diff --git a/backend/tests/fixtures/association_counts.py b/backend/tests/fixtures/association_counts.py index 7196670ef..6f692a883 100644 --- a/backend/tests/fixtures/association_counts.py +++ b/backend/tests/fixtures/association_counts.py @@ -7,12 +7,10 @@ def association_counts(): "items": [ { "label": "Phenotype to Disease", - "count": 3941, + "count": 3959, "category": "biolink:DiseaseToPhenotypicFeatureAssociation", }, {"label": "Causal Gene", "count": 126, "category": "biolink:CausalGeneToDiseaseAssociation"}, {"label": "Correlated Gene", "count": 146, "category": "biolink:CorrelatedGeneToDiseaseAssociation"}, - {"label": "Variant to Disease", "count": 1, "category": "biolink:VariantToDiseaseAssociation"}, - {"label": "Disease Model", "count": 243, "category": "biolink:GenotypeToDiseaseAssociation"}, ] } diff --git a/backend/tests/fixtures/association_counts_response.py b/backend/tests/fixtures/association_counts_response.py index 496297d21..c47468773 100644 --- a/backend/tests/fixtures/association_counts_response.py +++ b/backend/tests/fixtures/association_counts_response.py @@ -5,7 +5,7 @@ def association_counts_response(): return { "responseHeader": { - "QTime": 1, + "QTime": 4, "params": { "facet.query": [ '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")', @@ -20,10 +20,6 @@ def association_counts_response(): '(category:"biolink:MacromolecularMachineToBiologicalProcessAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")', '(category:"biolink:CausalGeneToDiseaseAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")', '(category:"biolink:CorrelatedGeneToDiseaseAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")', - '(category:"biolink:VariantToGeneAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")', - '(category:"biolink:VariantToDiseaseAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")', - '(category:"biolink:GenotypeToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")', - '(category:"biolink:GenotypeToDiseaseAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")', '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")', '(category:"biolink:GeneToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")', '(category:"biolink:PairwiseGeneToGeneInteraction") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")', @@ -36,10 +32,6 @@ def association_counts_response(): '(category:"biolink:MacromolecularMachineToBiologicalProcessAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")', '(category:"biolink:CausalGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")', '(category:"biolink:CorrelatedGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")', - '(category:"biolink:VariantToGeneAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")', - '(category:"biolink:VariantToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")', - '(category:"biolink:GenotypeToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")', - '(category:"biolink:GenotypeToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")', ], "mm": "100%", "q": "*:*", @@ -53,1667 +45,2253 @@ def association_counts_response(): }, }, "response": { - "num_found": 4944, + "num_found": 4965, "start": 0, "docs": [ { - "id": "uuid:95070ff6-25dd-11ef-abb5-e629eea977bb", - "original_subject": "MESH:D000077185", - "predicate": "biolink:treats_or_applied_or_studied_to_treat", - "original_object": "MESH:D020388", - "category": "biolink:ChemicalToDiseaseOrPhenotypicFeatureAssociation", + "id": "uuid:4dc189ff-38d8-11ef-8dc1-0579903a0a12", + "original_subject": "NCBIGene:84197", + "predicate": "biolink:causes", + "original_object": "OMIM:615249", + "category": "biolink:CausalGeneToDiseaseAssociation", "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:ctd", - "publications": ["PMID:26930420"], - "provided_by": "ctd_chemical_to_disease_edges", - "subject": "CHEBI:27881", - "object": "MONDO:0010679", - "subject_label": "resveratrol", - "subject_category": "biolink:MolecularEntity", - "subject_namespace": "CHEBI", - "subject_closure": [ - "CHEBI:78840", - "CHEBI:33608", - "CHEBI:33572", - "CHEBI:37577", - "CHEBI:23367", - "CHEBI:50860", - "CHEBI:25806", - "CHEBI:72695", - "CHEBI:26776", - "CHEBI:36357", - "CHEBI:33675", - "CHEBI:33822", - "CHEBI:24431", - "CHEBI:33674", - "BFO:0000004", - "CHEBI:36027", - "CHEBI:33595", - "CHEBI:33832", - "CHEBI:24651", - "CHEBI:33853", - "CHEBI:25367", - "BFO:0000001", - "BFO:0000040", - "CHEBI:27881", - "CHEBI:33659", - "CHEBI:26195", - "BFO:0000002", - "CHEBI:33570", - "CHEBI:33304", - "CHEBI:33582", - "CHEBI:33655", - "CHEBI:33579", - ], - "subject_closure_label": [ - "benzenediols", - "chalcogen molecular entity", - "carbon group molecular entity", - "resorcinols", - "stilbenoid", - "p-block molecular entity", - "organic hydroxy compound", - "resveratrol", - "phenols", - "molecule", - "continuant", - "organic molecule", - "molecular entity", - "entity", - "chemical entity", - "aromatic compound", - "polyatomic entity", - "olefinic compound", - "hydrogen molecular entity", - "stilbenol", - "cyclic compound", - "organic cyclic compound", - "heteroatomic molecular entity", - "material entity", - "hydroxides", - "organic aromatic compound", - "s-block molecular entity", - "independent continuant", - "main group molecular entity", - "organic molecular entity", - "oxygen molecular entity", - "polyphenol", - ], - "object_label": "Duchenne muscular dystrophy", + "primary_knowledge_source": "infores:omim", + "provided_by": "hpoa_gene_to_disease_edges", + "subject": "HGNC:26267", + "object": "MONDO:0014101", + "subject_label": "POMK", + "subject_category": "biolink:Gene", + "subject_namespace": "HGNC", + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", "object_category": "biolink:Disease", "object_namespace": "MONDO", "object_closure": [ - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", - "BFO:0000017", - "MONDO:0005071", - "MONDO:0700096", "MONDO:0020121", - "BFO:0000001", - "MONDO:0005336", - "MONDO:0100545", - "BFO:0000020", - "BFO:0000002", - "BFO:0000016", - "MONDO:0000001", - "MONDO:0010679", - "MONDO:0100546", + "BFO:0000017", "OGMS:0000031", "MONDO:0020120", "MONDO:0019056", + "MONDO:0005071", + "MONDO:0100546", + "MONDO:0000001", + "BFO:0000002", + "MONDO:0018276", + "MONDO:0000171", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "MONDO:0014101", + "MONDO:0002320", + "BFO:0000001", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0019950", + "MONDO:0003847", + "MONDO:0700096", ], "object_closure_label": [ "hereditary neuromuscular disease", + "disposition", "hereditary disease", + "nervous system disorder", + "continuant", "muscle tissue disorder", - "realizable entity", - "human disease", - "disease", - "disease", - "Duchenne muscular dystrophy", "muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "continuant", - "musculoskeletal system disorder", - "specifically dependent continuant", + "disease", + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", + "hereditary skeletal muscle disorder", "skeletal muscle disorder", "neuromuscular disease", - "hereditary skeletal muscle disorder", + "congenital nervous system disorder", "entity", - "nervous system disorder", - "disposition", + "muscular dystrophy-dystroglycanopathy", + "specifically dependent continuant", + "disease", + "muscular dystrophy-dystroglycanopathy, type A", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital muscular dystrophy", + "realizable entity", + "human disease", + "myopathy", ], - "evidence_count": 1, - "grouping_key": "CHEBI:27881||biolink:treats_or_applied_or_studied_to_treat|MONDO:0010679", + "evidence_count": 0, + "grouping_key": "HGNC:26267||biolink:causes|MONDO:0014101", }, { - "id": "uuid:9649ee06-25dd-11ef-abb5-e629eea977bb", - "original_subject": "MESH:D013654", - "predicate": "biolink:treats_or_applied_or_studied_to_treat", - "original_object": "MESH:D020388", - "category": "biolink:ChemicalToDiseaseOrPhenotypicFeatureAssociation", + "id": "uuid:4dc18a55-38d8-11ef-8dc1-0579903a0a12", + "original_subject": "NCBIGene:6442", + "predicate": "biolink:causes", + "original_object": "OMIM:608099", + "category": "biolink:CausalGeneToDiseaseAssociation", "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:ctd", - "publications": ["PMID:26930420"], - "provided_by": "ctd_chemical_to_disease_edges", - "subject": "CHEBI:15891", - "object": "MONDO:0010679", - "subject_label": "taurine", - "subject_category": "biolink:MolecularEntity", - "subject_namespace": "CHEBI", - "subject_closure": [ - "CHEBI:15891", - "CHEBI:33241", - "CHEBI:35352", - "CHEBI:37577", - "CHEBI:26835", - "CHEBI:33302", - "CHEBI:23367", - "CHEBI:64709", - "CHEBI:50860", - "CHEBI:33285", - "CHEBI:36357", - "CHEBI:33675", - "CHEBI:33582", - "CHEBI:24431", - "CHEBI:51143", - "BFO:0000004", - "BFO:0000001", - "CHEBI:33261", - "CHEBI:36962", - "BFO:0000040", - "CHEBI:33552", - "CHEBI:50047", - "BFO:0000002", - "CHEBI:33424", - "CHEBI:37793", - "CHEBI:33304", - "CHEBI:33551", - "CHEBI:33579", - ], - "subject_closure_label": [ - "chalcogen molecular entity", - "organonitrogen compound", - "organosulfonic acid", - "amino sulfonic acid", - "p-block molecular entity", - "organochalcogen compound", - "organic acid", - "organosulfur compound", - "continuant", - "heteroorganic entity", - "molecular entity", - "carbon group molecular entity", - "chemical entity", - "nitrogen molecular entity", - "oxoacid derivative", - "polyatomic entity", - "taurine", - "heteroatomic molecular entity", - "sulfur molecular entity", - "pnictogen molecular entity", - "material entity", - "sulfonic acid derivative", - "independent continuant", - "entity", - "main group molecular entity", - "organic molecular entity", - "sulfur oxoacid derivative", - "organic amino compound", - ], - "object_label": "Duchenne muscular dystrophy", + "primary_knowledge_source": "infores:omim", + "provided_by": "hpoa_gene_to_disease_edges", + "subject": "HGNC:10805", + "object": "MONDO:0011968", + "subject_label": "SGCA", + "subject_category": "biolink:Gene", + "subject_namespace": "HGNC", + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", "object_category": "biolink:Disease", "object_namespace": "MONDO", "object_closure": [ + "MONDO:0020121", + "MONDO:0004995", + "MONDO:0016140", + "BFO:0000017", + "OGMS:0000031", + "MONDO:0005021", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0005071", + "MONDO:0005267", + "MONDO:0011968", + "MONDO:0100546", + "MONDO:0004994", + "MONDO:0016333", + "MONDO:0000001", + "MONDO:0016106", + "MONDO:0000591", + "BFO:0000002", + "MONDO:0005217", + "MONDO:0015152", + "MONDO:0000429", + "BFO:0000016", + "MONDO:0003939", "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "MONDO:0006025", + "MONDO:0100545", "MONDO:0002081", + "MONDO:0016141", "MONDO:0003847", - 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"Duchenne muscular dystrophy", - "muscular dystrophy", - "myopathy", "hereditary neurological disease", - "continuant", "musculoskeletal system disorder", - "specifically dependent continuant", - "skeletal muscle disorder", - "neuromuscular disease", - "hereditary skeletal muscle disorder", + "qualitative or quantitative defects of alpha-sarcoglycan", + "realizable entity", + "familial dilated cardiomyopathy", + "autosomal genetic disease", + "cardiogenetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", "entity", - "nervous system disorder", - "disposition", + "myopathy", ], - "evidence_count": 1, - "grouping_key": "CHEBI:15891||biolink:treats_or_applied_or_studied_to_treat|MONDO:0010679", + "evidence_count": 0, + "grouping_key": "HGNC:10805||biolink:causes|MONDO:0011968", }, { - "id": "903d8dab-26a1-11ef-b56c-bd1693b88861", - "predicate": "biolink:model_of", - "original_object": "DOID:0050588", - "category": "biolink:GenotypeToDiseaseAssociation", + "id": "uuid:4dc18a8f-38d8-11ef-8dc1-0579903a0a12", + "original_subject": "NCBIGene:5339", + "predicate": "biolink:causes", + "original_object": "OMIM:226670", + "category": "biolink:CausalGeneToDiseaseAssociation", "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"], + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:mgi", - "provided_by": "alliance_disease_edges", - "subject": "MGI:7264454", - "object": "MONDO:0013159", - "subject_label": "Large1m1Btlr/Large1m1Btlr [background:] C57BL/6J-Large1m1Btlr", - "subject_category": "biolink:Genotype", - "subject_namespace": "MGI", - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "object_label": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", + "primary_knowledge_source": "infores:omim", + "provided_by": "hpoa_gene_to_disease_edges", + "subject": "HGNC:9069", + "object": "MONDO:0009181", + "subject_label": "PLEC", + "subject_category": "biolink:Gene", + "subject_namespace": "HGNC", + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "object_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", "object_category": "biolink:Disease", "object_namespace": "MONDO", "object_closure": [ - "MONDO:0000172", - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0700070", - "MONDO:0003847", - "MONDO:0003939", - "MONDO:0045010", - "MONDO:0013159", + "MONDO:0020121", "BFO:0000017", - "MONDO:0005066", - "MONDO:0005071", + "MONDO:0019268", "BFO:0000002", - "MONDO:0700096", - "MONDO:0020121", - "MONDO:0019950", - "MONDO:0016155", - "MONDO:0018276", - "MONDO:0024322", - "BFO:0000020", - "MONDO:0017741", - "MONDO:0005336", - "MONDO:0100545", - "MONDO:0019052", - "MONDO:0015286", - "MONDO:0002320", - "BFO:0000016", + "MONDO:0020120", + "MONDO:0019056", "BFO:0000001", - "MONDO:0018282", - "MONDO:0000001", + "MONDO:0005071", "MONDO:0100546", - "MONDO:0016139", "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0002254", + "MONDO:0000001", + "MONDO:0016106", + "MONDO:0002051", + "MONDO:0100118", + "MONDO:0009181", + "MONDO:0019276", + "MONDO:0005093", + "MONDO:0006617", + "MONDO:0015152", + "MONDO:0000429", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "MONDO:0006541", + "BFO:0000020", + "MONDO:0017610", + "MONDO:0006025", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0016198", + "MONDO:0003847", + "MONDO:0016971", + "MONDO:0016139", + "MONDO:0700096", ], "object_closure_label": [ "hereditary neuromuscular disease", - "qualitative or quantitative protein defects in neuromuscular diseases", - "myopathy caused by variation in POMT1", + "skin disorder", + "limb-girdle muscular dystrophy", + "disposition", "hereditary disease", + "nervous system disorder", "muscle tissue disorder", - "disorder of protein O-glycosylation", - "realizable entity", - "human disease", + "muscular dystrophy", + "epidermal disease", + "hereditary skeletal muscle disorder", + "hereditary skin disorder", + "specifically dependent continuant", + "epidermolysis bullosa simplex", + "autosomal recessive disease", "disease", - "qualitative or quantitative defects of alpha-dystroglycan", + "continuant", + "skeletal muscle disorder", + "neuromuscular disease", + "progressive muscular dystrophy", + "integumentary system disorder", + "autosomal recessive limb-girdle muscular dystrophy", "disease", - "muscular dystrophy", - "metabolic disease", - "muscular dystrophy-dystroglycanopathy", - "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", - "myopathy", + "vesiculobullous skin disease", + "epidermolysis bullosa simplex 5B, with muscular dystrophy", + "inherited epidermolysis bullosa", "hereditary neurological disease", - "inborn errors of metabolism", - "disorder of glycosylation", "musculoskeletal system disorder", - "skeletal muscle disorder", - "neuromuscular disease", - "muscular dystrophy-dystroglycanopathy, type B", - "hereditary skeletal muscle disorder", - "specifically dependent continuant", + "qualitative or quantitative defects of plectin", + "realizable entity", + "syndromic disease", + "autosomal genetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "myopathy", + "epidermolysis bullosa", "entity", - "congenital muscular dystrophy", - "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan", - "glycoprotein metabolism disease", - "nervous system disorder", - "continuant", - "disposition", - "congenital disorder of glycosylation", - "congenital nervous system disorder", ], "evidence_count": 0, - "grouping_key": "MGI:7264454||biolink:model_of|MONDO:0013159", + "grouping_key": "HGNC:9069||biolink:causes|MONDO:0009181", }, { - "id": "903d8dcc-26a1-11ef-b56c-bd1693b88861", - "predicate": "biolink:model_of", - "original_object": "DOID:0050558", - "category": "biolink:GenotypeToDiseaseAssociation", + "id": "uuid:4dc18ac0-38d8-11ef-8dc1-0579903a0a12", + "original_subject": "NCBIGene:11155", + "predicate": "biolink:causes", + "original_object": "OMIM:609452", + "category": "biolink:CausalGeneToDiseaseAssociation", "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"], + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:mgi", - "provided_by": "alliance_disease_edges", - "subject": "MGI:5565211", - "object": "MONDO:0000355", - "subject_label": "Col6a3tm2.1Chu/Col6a3+ [background:] B6.129(Cg)-Col6a3tm2.1Chu", - "subject_category": "biolink:Genotype", - "subject_namespace": "MGI", - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "object_label": "Ullrich congenital muscular dystrophy", + "primary_knowledge_source": "infores:omim", + "provided_by": "hpoa_gene_to_disease_edges", + "subject": "HGNC:15710", + "object": "MONDO:0012277", + "subject_label": "LDB3", + "subject_category": "biolink:Gene", + "subject_namespace": "HGNC", + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "object_label": "myofibrillar myopathy 4", "object_category": "biolink:Disease", "object_namespace": "MONDO", "object_closure": [ - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", + "MONDO:0020121", + "MONDO:0018943", "MONDO:0019952", + "MONDO:0016190", "BFO:0000017", - "MONDO:0000355", + "MONDO:0016186", + "BFO:0000002", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0005071", - "MONDO:0700096", - "MONDO:0020121", - "MONDO:0019950", - "BFO:0000020", - 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disorder", - "skeletal muscle disorder", - "neuromuscular disease", "hereditary skeletal muscle disorder", + "continuant", + "skeletal muscle disorder", "specifically dependent continuant", - "congenital muscular dystrophy", + "disease", + "musculoskeletal system disorder", + "congenital myopathy", + "realizable entity", + "human disease", + "myopathy", "entity", - "nervous system disorder", - "continuant", - "disposition", - "congenital nervous system disorder", ], "evidence_count": 0, - "grouping_key": "MGI:3832643||biolink:model_of|MONDO:0000171", + "grouping_key": "MONDO:0008409||biolink:subclass_of|MONDO:0019952", }, ], }, "facet_counts": { "facet_fields": {}, "facet_queries": { - '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 3941, + '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 3959, '(category:"biolink:GeneToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0, '(category:"biolink:PairwiseGeneToGeneInteraction") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0, '(category:"biolink:GeneToPathwayAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0, @@ -1725,10 +2303,6 @@ def association_counts_response(): '(category:"biolink:MacromolecularMachineToBiologicalProcessAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0, '(category:"biolink:CausalGeneToDiseaseAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0, '(category:"biolink:CorrelatedGeneToDiseaseAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0, - '(category:"biolink:VariantToGeneAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0, - '(category:"biolink:VariantToDiseaseAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0, - '(category:"biolink:GenotypeToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0, - '(category:"biolink:GenotypeToDiseaseAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 0, '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0, '(category:"biolink:GeneToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0, '(category:"biolink:PairwiseGeneToGeneInteraction") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0, @@ -1741,10 +2315,6 @@ def association_counts_response(): '(category:"biolink:MacromolecularMachineToBiologicalProcessAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0, '(category:"biolink:CausalGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 126, '(category:"biolink:CorrelatedGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 146, - '(category:"biolink:VariantToGeneAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0, - '(category:"biolink:VariantToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 1, - '(category:"biolink:GenotypeToPhenotypicFeatureAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 0, - '(category:"biolink:GenotypeToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 243, }, }, } diff --git a/backend/tests/fixtures/association_response.py b/backend/tests/fixtures/association_response.py index 4b65ebd9b..65fc60ead 100644 --- a/backend/tests/fixtures/association_response.py +++ b/backend/tests/fixtures/association_response.py @@ -19,1660 +19,2246 @@ def association_response(): }, }, "response": { - "num_found": 4944, + "num_found": 4965, "start": 0, "docs": [ { - "id": "uuid:95070ff6-25dd-11ef-abb5-e629eea977bb", - "original_subject": "MESH:D000077185", - "predicate": "biolink:treats_or_applied_or_studied_to_treat", - "original_object": "MESH:D020388", - "category": "biolink:ChemicalToDiseaseOrPhenotypicFeatureAssociation", + "id": "uuid:4dc189ff-38d8-11ef-8dc1-0579903a0a12", + "original_subject": "NCBIGene:84197", + "predicate": "biolink:causes", + "original_object": "OMIM:615249", + "category": "biolink:CausalGeneToDiseaseAssociation", "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:ctd", - "publications": ["PMID:26930420"], - "provided_by": "ctd_chemical_to_disease_edges", - "subject": "CHEBI:27881", - "object": "MONDO:0010679", - "subject_label": "resveratrol", - "subject_category": 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- "grouping_key": "MGI:3798606||biolink:model_of|MONDO:0010679", + "grouping_key": "MONDO:0008409||biolink:subclass_of|MONDO:0016195", }, { - "id": "90492f35-26a1-11ef-b56c-bd1693b88861", - "predicate": "biolink:model_of", - "original_object": "DOID:11723", - "category": "biolink:GenotypeToDiseaseAssociation", - "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"], - "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:mgi", - "provided_by": "alliance_disease_edges", - "subject": "MGI:4936865", - "object": "MONDO:0010679", - "subject_label": "Dmdmdx/Y Terctm1Rdp/Terctm1Rdp [background:] involves: 129/Sv * C57BL/6J * C57BL/10ScSn * SJL", - "subject_category": "biolink:Genotype", - "subject_namespace": "MGI", - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "object_label": "Duchenne muscular dystrophy", - "object_category": "biolink:Disease", - "object_namespace": "MONDO", - "object_closure": [ + "id": "urn:uuid:45eda7c7-f0d0-441b-9fb4-e09cb00fba8b", + "predicate": "biolink:subclass_of", + "category": "biolink:Association", + "agent_type": "not_provided", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"], + "knowledge_level": "not_provided", + "primary_knowledge_source": "infores:mondo", + "provided_by": "phenio_edges", + "subject": "MONDO:0008409", + "object": "MONDO:0019952", + "subject_label": "congenital myopathy 7A, myosin storage, autosomal dominant", + "subject_category": "biolink:Disease", + "subject_namespace": "MONDO", + "subject_closure": [ + "MONDO:0020121", + "MONDO:0004995", + "MONDO:0019952", + "BFO:0000017", + "OGMS:0000031", + "MONDO:0005021", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0005071", + "MONDO:0005267", + "MONDO:0100546", + "MONDO:0004994", + "MONDO:0016333", + "MONDO:0000001", + "MONDO:0000727", + "MONDO:0016106", + "MONDO:0000591", + "BFO:0000002", + "MONDO:0005217", + "MONDO:0008409", + "BFO:0000016", + "MONDO:0003939", "MONDO:0700223", + "MONDO:0005336", + "MONDO:0016830", + "BFO:0000020", + "MONDO:0002320", + "MONDO:0100545", "MONDO:0002081", + "MONDO:0016195", "MONDO:0003847", - "MONDO:0003939", - "BFO:0000017", - "MONDO:0005071", + "MONDO:0100547", + "MONDO:0016139", "MONDO:0700096", - "MONDO:0020121", "BFO:0000001", - "MONDO:0005336", - "MONDO:0100545", - "BFO:0000020", - "BFO:0000002", - "BFO:0000016", - "MONDO:0000001", - "MONDO:0010679", - "MONDO:0100546", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", ], - "object_closure_label": [ + "subject_closure_label": [ "hereditary neuromuscular disease", + "congenital myopathy 7A, myosin storage, autosomal dominant", + "disposition", "hereditary disease", + "nervous system disorder", + "heart disorder", + "continuant", "muscle tissue disorder", - "realizable entity", - "human disease", - "disease", - "disease", - "Duchenne muscular dystrophy", "muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "continuant", - "musculoskeletal system disorder", + "cardiovascular disorder", + "familial cardiomyopathy", + "disease", + "dilated cardiomyopathy", + "cardiomyopathy", + "Emery-Dreifuss muscular dystrophy", + "hereditary skeletal muscle disorder", + "intrinsic cardiomyopathy", "specifically dependent continuant", "skeletal muscle disorder", "neuromuscular disease", - "hereditary skeletal muscle disorder", + "congenital nervous system disorder", + "scapuloperoneal myopathy", + "progressive muscular dystrophy", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital myopathy", + "realizable entity", + "familial dilated cardiomyopathy", + "cardiogenetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", "entity", - "nervous system disorder", - "disposition", + "myopathy", + "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)", ], - "evidence_count": 0, - "grouping_key": "MGI:4936865||biolink:model_of|MONDO:0010679", - }, - { - "id": "90492fad-26a1-11ef-b56c-bd1693b88861", - "predicate": "biolink:model_of", - "original_object": "DOID:0050560", - "category": "biolink:GenotypeToDiseaseAssociation", - "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"], - "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:mgi", - "provided_by": "alliance_disease_edges", - "subject": "MGI:3832643", - "object": "MONDO:0000171", - "subject_label": "Pomgnt1tm1Stk/Pomgnt1tm1Stk [background:] involves: 129S/SvEv", - "subject_category": "biolink:Genotype", - "subject_namespace": "MGI", - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "object_label": "muscular dystrophy-dystroglycanopathy, type A", + "object_label": "congenital myopathy", "object_category": "biolink:Disease", "object_namespace": "MONDO", "object_closure": [ - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", - "MONDO:0000171", + "MONDO:0019952", "BFO:0000017", - "MONDO:0005071", + "OGMS:0000031", "BFO:0000002", - "MONDO:0700096", - "MONDO:0020121", + "MONDO:0020120", "BFO:0000001", - "MONDO:0019950", - "MONDO:0018276", - "BFO:0000020", - "MONDO:0005336", - "MONDO:0100545", - "MONDO:0002320", - "BFO:0000016", "MONDO:0000001", - "MONDO:0100546", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "MONDO:0002081", + "MONDO:0003847", + "MONDO:0700096", ], "object_closure_label": [ - "hereditary neuromuscular disease", + "disposition", "hereditary disease", "muscle tissue disorder", - "muscular dystrophy-dystroglycanopathy, type A", - "realizable entity", - "human disease", - "disease", "disease", - "muscular dystrophy", - "muscular dystrophy-dystroglycanopathy", - "myopathy", - "hereditary neurological disease", - "musculoskeletal system disorder", - "skeletal muscle disorder", - "neuromuscular disease", "hereditary skeletal muscle disorder", + "continuant", + "skeletal muscle disorder", "specifically dependent continuant", - "congenital muscular dystrophy", + "disease", + "musculoskeletal system disorder", + "congenital myopathy", + "realizable entity", + "human disease", + "myopathy", "entity", - "nervous system disorder", - "continuant", - "disposition", - "congenital nervous system disorder", ], "evidence_count": 0, - "grouping_key": "MGI:3832643||biolink:model_of|MONDO:0000171", + "grouping_key": "MONDO:0008409||biolink:subclass_of|MONDO:0019952", }, ], }, diff --git a/backend/tests/fixtures/association_table.py b/backend/tests/fixtures/association_table.py index e1f48980b..00a2e3dd9 100644 --- a/backend/tests/fixtures/association_table.py +++ b/backend/tests/fixtures/association_table.py @@ -6,257 +6,159 @@ def association_table(): return { "limit": 5, "offset": 0, - "total": 3941, + "total": 3959, "items": [ { - "id": "uuid:2d23fd60-25e0-11ef-abb5-e629eea977bb", + "id": "uuid:0f88c0b8-38d8-11ef-8dc1-0579903a0a12", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0013049", - "original_subject": "OMIM:612937", + "subject": "MONDO:0958233", + "original_subject": "OMIM:620725", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", + "MONDO:0020121", + "MONDO:0019952", "BFO:0000017", - "MONDO:0005500", - "MONDO:0005066", + "OGMS:0000031", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0005071", + "MONDO:0100546", + "MONDO:0008029", + "MONDO:0000001", + "MONDO:0016106", "BFO:0000002", - "MONDO:0700096", - "MONDO:0020121", - "MONDO:0017749", - "MONDO:0019950", - "MONDO:0018276", - "MONDO:0024322", - "BFO:0000020", + "MONDO:0958233", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", "MONDO:0005336", - "MONDO:0100545", - "MONDO:0019052", - "MONDO:0015286", + "BFO:0000020", "MONDO:0002320", - "MONDO:0013049", - "BFO:0000016", "BFO:0000001", - "MONDO:0000001", - "MONDO:0100546", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0019950", + "MONDO:0003847", + "MONDO:0700096", ], - "subject_label": "DPM3-congenital disorder of glycosylation", + "subject_label": "Bethlem myopathy 1B", "subject_closure_label": [ - "DPM3-congenital disorder of glycosylation", "hereditary neuromuscular disease", + "disposition", "hereditary disease", + "nervous system disorder", + "continuant", "muscle tissue disorder", - "realizable entity", - "human disease", - "disease", - "disease", "muscular dystrophy", - "congenital disorder of glycosylation type I", - "metabolic disease", - "muscular dystrophy-dystroglycanopathy", - "myopathy", - "hereditary neurological disease", - "inborn errors of metabolism", - "disorder of glycosylation", - "musculoskeletal system disorder", + "disease", + "Bethlem myopathy", + "hereditary skeletal muscle disorder", "skeletal muscle disorder", "neuromuscular disease", - "hereditary skeletal muscle disorder", - "specifically dependent continuant", + "congenital nervous system disorder", "entity", + "specifically dependent continuant", + "progressive muscular dystrophy", + "disease", + "Bethlem myopathy 1B", + "hereditary neurological disease", + "musculoskeletal system disorder", "congenital muscular dystrophy", - "disorder of multiple glycosylation", - "nervous system disorder", - "continuant", - "disposition", - "congenital disorder of glycosylation", - "congenital nervous system disorder", + "congenital myopathy", + "realizable entity", + "human disease", + "myopathy", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0003236", + "object": "HP:0003701", "original_object": None, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0051763", - "HP:0040081", - "UPHENO:0001003", - "BFO:0000040", - "CHEBI:33579", - "UBERON:0000468", - "CHEBI:33302", - "CHEBI:33304", - "GO:0002185", - "CHEBI:16541", - "HP:0001871", - "UPHENO:0077821", - "UPHENO:0002536", - "HP:0032180", - "HP:0033405", - "HP:0003236", - "BFO:0000015", - "BFO:0000004", - "UBERON:0010000", - "UBERON:0000467", - "GO:0061695", - "CHEBI:15841", + "UPHENO:0001001", "BFO:0000002", - "UPHENO:0046284", - "HP:0010876", - "GO:0032991", - "CHEBI:23367", - "UBERON:0000061", - "UBERON:0000463", - "UBERON:0002390", - "UBERON:0000179", - "CHEBI:33582", - "CHEBI:51143", - "CHEBI:25806", - "CHEBI:36962", + "UPHENO:0002332", + "BFO:0000001", + "UPHENO:0002816", + "PATO:0000001", "HP:0000001", - "HP:0011021", - "UPHENO:0001002", "HP:0000118", - "HP:0001939", - "UPHENO:0051612", - "UPHENO:0051804", - "UBERON:0004120", - "UBERON:0006314", - "HP:0430071", - "BFO:0000020", - "UPHENO:0081547", - "UPHENO:0077826", - "UBERON:0001062", - "CHEBI:16670", - "UPHENO:0076286", - "GO:0008152", - "CHEBI:50860", - "CHEBI:50047", - "CHEBI:37622", - "CHEBI:33256", - "UPHENO:0076289", - "BFO:0000001", - "GO:0008150", - "CHEBI:33675", - "UBERON:0002193", - "UPHENO:0051668", - "UPHENO:0004459", + "UBERON:0000062", + "UPHENO:0082875", + "UPHENO:0080555", + "HP:0011804", + "UBERON:0000467", + "UBERON:0005090", "BFO:0000001", - "UBERON:0000178", - "GO:1990234", - "CHEBI:33839", - "CHEBI:35352", - "CHEBI:32988", - "CHEBI:36963", - "CHEBI:33285", - "HP:0004364", - "UPHENO:0051801", - "PATO:0000001", - "UPHENO:0001001", - "UPHENO:0001005", - "BFO:0000003", + "UBERON:0000061", + "UBERON:0000468", + "UBERON:0011216", + "HP:0003011", + "UPHENO:0002536", + "UBERON:0000383", + "UBERON:0001015", "BFO:0000002", - "GO:0005575", - "CHEBI:24431", + "UPHENO:0001005", + "UPHENO:0001002", + "BFO:0000040", + "UBERON:0001062", + "UBERON:0010000", + "UBERON:0001630", + "UPHENO:0075696", + "BFO:0000020", + "BFO:0000004", + "HP:0001324", + "HP:0033127", + "UPHENO:0001003", + "UPHENO:0002320", + "HP:0003701", + "UPHENO:0080556", "UBERON:0000465", - "PR:000050567", - "GO:1902494", - "CHEBI:36357", ], - "object_label": "Elevated circulating creatine kinase concentration", + "object_label": "Proximal muscle weakness", "object_closure_label": [ - "abnormal independent continuant chemical entity level", - "abnormal independent continuant protein polypeptide chain level", - "multicellular organism", - "abnormal phenotype by ontology source", - "Abnormality of blood and blood-forming tissues", - "abnormal independent continuant nitrogen molecular entity level", - "Abnormal circulating protein concentration", - "quality", - "material entity", - "catalytic complex", - "polyatomic entity", - "creatine kinase complex", - "protein polypeptide chain", - "organonitrogen compound", - "amide", - "organooxygen compound", - "heteroorganic entity", - "Abnormal circulating nitrogen compound concentration", - "Elevated circulating creatine kinase concentration", - "main group molecular entity", - "macromolecule", - "transferase complex", - "organic molecular entity", - "Abnormal circulating organic compound concentration", - "abnormal role blood level", - "abnormal role bodily fluid level", - "abnormal blood nitrogen molecular entity level", - "occurrent", - "continuant", + "phenotype", + "abnormal musculature", + "abnormality of muscle organ physiology", "multicellular anatomical structure", - "anatomical system", - "organic amino compound", - "carboxamide", - "primary amide", - "abnormal role independent continuant level", - "Phenotypic abnormality", - "abnormal chemical entity level", - "abnormal anatomical entity", - "anatomical structure", - "organism substance", - "transferase complex, transferring phosphorus-containing groups", - "polypeptide", - "Abnormal circulating creatine kinase concentration", - "phenotype by ontology source", - "Abnormal circulating metabolite concentration", - "Abnormal circulating organic amino compound concentration", - "entity", - "process", + "muscle organ", + "Abnormality of the musculature", "independent continuant", - "nitrogen molecular entity", - "oxygen molecular entity", - "organochalcogen compound", "All", - "Abnormality of circulating enzyme level", + "entity", + "abnormal phenotype by ontology source", "Phenotypic abnormality", - "cellular_component", - "chemical entity", - "material anatomical entity", - "protein-containing material entity", - "p-block molecular entity", - "hemolymphoid system", - "abnormal multicellular organism chemical entity level", + "Abnormal muscle physiology", + "abnormal anatomical entity", "specifically dependent continuant", - "entity", - "abnormal blood protein polypeptide chain level", - "abnormal blood chemical entity level", - "protein-containing complex", - "molecular entity", - "carbon group molecular entity", - "peptide", - "Abnormality of metabolism/homeostasis", - "biological_process", - "metabolic process", - "mesoderm-derived structure", - "bodily fluid", - "pnictogen molecular entity", - "chalcogen molecular entity", - "phenotype", "continuant", - "abnormal hematopoietic system", + "abnormality of anatomical entity physiology", + "continuant", + "decreased anatomical entity strength", + "abnormal anatomical entity", + "multicellular organism", + "organ system subdivision", + "abnormality of anatomical entity physiology", + "material entity", "anatomical entity", - "blood", - "hematopoietic system", - "haemolymphatic fluid", + "Muscle weakness", + "Abnormality of the musculoskeletal system", + "phenotype by ontology source", + "organ", + "musculature of body", + "musculature", + "quality", + "Phenotypic abnormality", + "decreased muscle organ strength", + "anatomical structure", + "Proximal muscle weakness", + "material anatomical entity", + "entity", + "anatomical system", + "muscle structure", ], "object_taxon": None, "object_taxon_label": None, @@ -269,20 +171,20 @@ def association_table(): "agent_type": "manual_agent", "has_evidence": ["ECO:0000269"], "has_evidence_links": [{"id": "ECO:0000269", "url": "http://purl.obolibrary.org/obo/ECO_0000269"}], - "has_count": 2, - "has_total": 2, + "has_count": 11, + "has_total": 11, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0013049||biolink:has_phenotype|HP:0003236", + "grouping_key": "MONDO:0958233||biolink:has_phenotype|HP:0003701", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": ["PMID:19576565", "PMID:28803818"], + "publications": ["PMID:11865138", "PMID:17886299"], "publications_links": [ - {"id": "PMID:19576565", "url": "http://identifiers.org/pubmed/19576565"}, - {"id": "PMID:28803818", "url": "http://identifiers.org/pubmed/28803818"}, + {"id": "PMID:11865138", "url": "http://identifiers.org/pubmed/11865138"}, + {"id": "PMID:17886299", "url": "http://identifiers.org/pubmed/17886299"}, ], "frequency_qualifier": None, "onset_qualifier": None, @@ -326,160 +228,254 @@ def association_table(): "has_percentage_sortable_float": [100.0], }, { - "id": "uuid:2e779d52-25e0-11ef-abb5-e629eea977bb", + "id": "uuid:0b39d5c5-38d8-11ef-8dc1-0579903a0a12", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0009676", - "original_subject": "OMIM:253601", + "subject": "MONDO:0013049", + "original_subject": "OMIM:612937", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0700223", - "MONDO:0016106", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", - "MONDO:0016145", - "BFO:0000017", - "MONDO:0005071", - "BFO:0000002", - "MONDO:0700096", "MONDO:0020121", - "MONDO:0000429", - "BFO:0000020", - "MONDO:0016971", - "MONDO:0006025", - "MONDO:0005336", - "MONDO:0100545", - "MONDO:0009676", - "MONDO:0015152", - "BFO:0000016", - "BFO:0000001", - "MONDO:0000001", - "MONDO:0100546", - "MONDO:0016139", + "BFO:0000017", "OGMS:0000031", + "BFO:0000002", "MONDO:0020120", "MONDO:0019056", + "MONDO:0005071", + "MONDO:0100546", + "MONDO:0000001", + "MONDO:0005500", + "MONDO:0005066", + "MONDO:0013049", + "MONDO:0018276", + "MONDO:0015286", + "MONDO:0024322", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "MONDO:0017749", + "MONDO:0002320", + "BFO:0000001", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0019950", + "MONDO:0003847", + "MONDO:0700096", + "MONDO:0019052", ], - "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2B", + "subject_label": "DPM3-congenital disorder of glycosylation", "subject_closure_label": [ "hereditary neuromuscular disease", - "qualitative or quantitative protein defects in neuromuscular diseases", + "disorder of glycosylation", + "disposition", "hereditary disease", + "nervous system disorder", "muscle tissue disorder", - "limb-girdle muscular dystrophy", - "realizable entity", - "human disease", - "disease", - "disease", "muscular dystrophy", - "autosomal genetic disease", - "progressive muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "musculoskeletal system disorder", + "disease", + "disorder of multiple glycosylation", + "hereditary skeletal muscle disorder", + "congenital disorder of glycosylation type I", + "metabolic disease", + "DPM3-congenital disorder of glycosylation", + "continuant", "skeletal muscle disorder", "neuromuscular disease", - "hereditary skeletal muscle disorder", - "specifically dependent continuant", + "congenital nervous system disorder", "entity", - "qualitative or quantitative defects of dysferlin", - "autosomal recessive disease", - "nervous system disorder", - "continuant", - "disposition", - "autosomal recessive limb-girdle muscular dystrophy type 2B", - "autosomal recessive limb-girdle muscular dystrophy", + "muscular dystrophy-dystroglycanopathy", + "specifically dependent continuant", + "congenital disorder of glycosylation", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital muscular dystrophy", + "realizable entity", + "human disease", + "inborn errors of metabolism", + "myopathy", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0003701", + "object": "HP:0003236", "original_object": None, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "HP:0033127", + "UPHENO:0077821", + "CHEBI:33302", + "CHEBI:33304", + "BFO:0000002", + "PR:000050567", + "CHEBI:33582", + "CHEBI:16670", + "HP:0000001", + "HP:0011021", + "HP:0000118", "UPHENO:0001003", - "BFO:0000040", - "UBERON:0001062", + "UBERON:0000178", + "HP:0004364", + "HP:0010876", + "HP:0003236", + "GO:0008152", "UBERON:0000467", - "UBERON:0005090", + "CHEBI:33579", + "UPHENO:0051668", + "GO:0032991", + "CHEBI:23367", "UBERON:0000468", - "UBERON:0011216", - "HP:0003701", + "UPHENO:0001001", + "UPHENO:0046284", + "BFO:0000001", + "HP:0001871", "UPHENO:0002536", - "HP:0011804", - "BFO:0000004", - "UBERON:0010000", + "CHEBI:50860", + "HP:0430071", + "UPHENO:0004459", + "BFO:0000003", "BFO:0000002", - "HP:0003011", - "UPHENO:0002816", - "UBERON:0000061", - "HP:0000001", - "HP:0001324", - "HP:0000118", + "UBERON:0002390", + "UBERON:0000179", + "GO:0002185", + "CHEBI:16541", "UPHENO:0001002", + "UPHENO:0081547", + "UPHENO:0077826", + "HP:0032180", + "HP:0033405", + "UBERON:0001062", + "CHEBI:51143", + "CHEBI:25806", + "CHEBI:36962", + "UPHENO:0001005", "BFO:0000020", - "UPHENO:0002320", - "UPHENO:0080555", - "UBERON:0000383", - "UBERON:0001015", - "UPHENO:0075696", - "BFO:0000001", - "UBERON:0001630", + "CHEBI:35352", + "CHEBI:32988", + "CHEBI:36963", + "CHEBI:33285", + "UPHENO:0051763", + "UPHENO:0051804", + "GO:0008150", + "BFO:0000040", + "UBERON:0010000", + "CHEBI:33675", + "UBERON:0002193", + "UPHENO:0076289", + "HP:0001939", "BFO:0000001", - "UPHENO:0082875", - "UPHENO:0080556", + "BFO:0000015", + "BFO:0000004", + "GO:1902494", + "CHEBI:36357", + "GO:0061695", + "CHEBI:15841", + "UPHENO:0076286", + "HP:0040081", "PATO:0000001", - "UBERON:0000062", - "UPHENO:0001001", - "UPHENO:0001005", - "UPHENO:0002332", - "BFO:0000002", + "UPHENO:0051612", + "UBERON:0000061", + "UBERON:0000463", + "GO:1990234", + "CHEBI:33839", + "CHEBI:50047", + "CHEBI:37622", + "CHEBI:33256", + "UBERON:0004120", + "UBERON:0006314", + "UPHENO:0051801", + "GO:0005575", + "CHEBI:24431", "UBERON:0000465", ], - "object_label": "Proximal muscle weakness", + "object_label": "Elevated circulating creatine kinase concentration", "object_closure_label": [ - "decreased muscle organ strength", - "multicellular organism", - "organ system subdivision", - "abnormality of muscle organ physiology", - "abnormal phenotype by ontology source", - "quality", + "entity", + "carbon group molecular entity", + "peptide", + "abnormal hematopoietic system", + "biological_process", "material entity", - "anatomical entity", - "musculature of body", - "musculature", - "abnormality of anatomical entity physiology", - "Abnormal muscle physiology", - "anatomical system", - "muscle structure", - "Proximal muscle weakness", - "continuant", "multicellular anatomical structure", - "abnormal anatomical entity", - "Muscle weakness", - "Abnormality of the musculature", - "abnormal musculature", - "abnormal anatomical entity", - "Phenotypic abnormality", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "entity", + "creatine kinase complex", + "protein polypeptide chain", + "p-block molecular entity", + "hemolymphoid system", + "abnormal chemical entity level", + "process", "independent continuant", "All", + "Abnormality of circulating enzyme level", + "pnictogen molecular entity", + "chalcogen molecular entity", "Phenotypic abnormality", - "abnormality of anatomical entity physiology", - "material anatomical entity", - "muscle organ", - "specifically dependent continuant", - "entity", + "Abnormal circulating protein concentration", + "Elevated circulating creatine kinase concentration", + "metabolic process", + "mesoderm-derived structure", + "bodily fluid", + "abnormal role independent continuant level", + "abnormal blood chemical entity level", "anatomical structure", - "decreased anatomical entity strength", - "organ", - "phenotype", + "organism substance", + "abnormal independent continuant chemical entity level", + "continuant", + "entity", + "occurrent", "continuant", + "hematopoietic system", + "haemolymphatic fluid", + "specifically dependent continuant", + "catalytic complex", + "polyatomic entity", + "organic molecular entity", + "abnormal phenotype by ontology source", + "abnormal anatomical entity", + "protein-containing material entity", + "multicellular organism", + "Abnormal circulating nitrogen compound concentration", + "Abnormality of blood and blood-forming tissues", + "anatomical entity", + "phenotype", + "abnormal role blood level", + "Abnormal circulating creatine kinase concentration", + "quality", + "abnormal blood protein polypeptide chain level", + "blood", + "organonitrogen compound", + "amide", + "organooxygen compound", + "heteroorganic entity", + "abnormal independent continuant nitrogen molecular entity level", + "phenotype by ontology source", + "transferase complex, transferring phosphorus-containing groups", + "polypeptide", + "nitrogen molecular entity", + "oxygen molecular entity", + "organochalcogen compound", + "Abnormal circulating organic compound concentration", + "Phenotypic abnormality", + "abnormal independent continuant protein polypeptide chain level", + "protein-containing complex", + "molecular entity", + "transferase complex", + "macromolecule", + "carboxamide", + "organic amino compound", + "primary amide", + "abnormal role bodily fluid level", + "abnormal blood nitrogen molecular entity level", + "Abnormal circulating metabolite concentration", + "Abnormal circulating organic amino compound concentration", + "cellular_component", + "chemical entity", + "material anatomical entity", + "abnormal multicellular organism chemical entity level", + "Abnormality of metabolism/homeostasis", + "anatomical system", + "main group molecular entity", ], "object_taxon": None, "object_taxon_label": None, @@ -492,20 +488,20 @@ def association_table(): "agent_type": "manual_agent", "has_evidence": ["ECO:0000269"], "has_evidence_links": [{"id": "ECO:0000269", "url": "http://purl.obolibrary.org/obo/ECO_0000269"}], - "has_count": 32, - "has_total": 32, + "has_count": 2, + "has_total": 2, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0009676||biolink:has_phenotype|HP:0003701", + "grouping_key": "MONDO:0013049||biolink:has_phenotype|HP:0003236", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": ["PMID:9731527", "PMID:9009996"], + "publications": ["PMID:19576565", "PMID:28803818"], "publications_links": [ - {"id": "PMID:9731527", "url": "http://identifiers.org/pubmed/9731527"}, - {"id": "PMID:9009996", "url": "http://identifiers.org/pubmed/9009996"}, + {"id": "PMID:19576565", "url": "http://identifiers.org/pubmed/19576565"}, + {"id": "PMID:28803818", "url": "http://identifiers.org/pubmed/28803818"}, ], "frequency_qualifier": None, "onset_qualifier": None, @@ -549,290 +545,160 @@ def association_table(): "has_percentage_sortable_float": [100.0], }, { - "id": "uuid:2c1c7500-25e0-11ef-abb5-e629eea977bb", + "id": "uuid:0dc5ac14-38d8-11ef-8dc1-0579903a0a12", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0011968", - "original_subject": "OMIM:608099", + "subject": "MONDO:0009676", + "original_subject": "OMIM:253601", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0004995", - "MONDO:0016140", - "MONDO:0700223", - "MONDO:0016106", - "MONDO:0002081", - "MONDO:0016141", - "MONDO:0003847", - "MONDO:0003939", + "MONDO:0020121", "BFO:0000017", + "OGMS:0000031", + "BFO:0000002", + "MONDO:0020120", + "MONDO:0019056", + "BFO:0000001", "MONDO:0005071", - "MONDO:0005267", - "MONDO:0005217", - "MONDO:0700096", - "MONDO:0000591", - "MONDO:0004994", - "MONDO:0020121", - "MONDO:0016333", + "MONDO:0100546", + "MONDO:0000001", + "MONDO:0016106", + "MONDO:0009676", + "MONDO:0016145", + "MONDO:0015152", "MONDO:0000429", - "MONDO:0016971", - "MONDO:0006025", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", "MONDO:0005336", - "MONDO:0100545", - "MONDO:0005021", - "BFO:0000001", "BFO:0000020", - "MONDO:0015152", - "BFO:0000002", - "BFO:0000016", - "MONDO:0000001", - "MONDO:0011968", - "MONDO:0100546", - "MONDO:0100547", + "MONDO:0006025", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0003847", + "MONDO:0016971", "MONDO:0016139", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0700096", ], - "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", + "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2B", "subject_closure_label": [ - "autosomal recessive limb-girdle muscular dystrophy type 2D", "hereditary neuromuscular disease", - "cardiogenetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", + "limb-girdle muscular dystrophy", + "disposition", "hereditary disease", + "nervous system disorder", "muscle tissue disorder", - "limb-girdle muscular dystrophy", - "realizable entity", - "human disease", - "intrinsic cardiomyopathy", - "disease", - "disease", "muscular dystrophy", - "autosomal genetic disease", - "progressive muscular dystrophy", - "myopathy", - "hereditary neurological disease", + "disease", + "hereditary skeletal muscle disorder", + "autosomal recessive disease", "continuant", - "familial cardiomyopathy", - "entity", - "musculoskeletal system disorder", - "qualitative or quantitative defects of alpha-sarcoglycan", - "cardiomyopathy", - "specifically dependent continuant", "skeletal muscle disorder", "neuromuscular disease", - "cardiovascular disorder", - "sarcoglycanopathy", - "hereditary skeletal muscle disorder", - "familial dilated cardiomyopathy", - "dilated cardiomyopathy", - "autosomal recessive disease", - "nervous system disorder", - "heart disorder", - "disposition", + "qualitative or quantitative defects of dysferlin", + "specifically dependent continuant", + "progressive muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy", + "disease", + "autosomal recessive limb-girdle muscular dystrophy type 2B", + "hereditary neurological disease", + "musculoskeletal system disorder", + "realizable entity", + "autosomal genetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "myopathy", + "entity", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0008981", + "object": "HP:0003701", "original_object": None, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "HP:0008981", - "UPHENO:0065599", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0002647", - "BFO:0000001", - "BFO:0000040", - "UBERON:0001062", - "UBERON:0005090", - "UBERON:0018254", - "UBERON:0011216", - "UBERON:0014892", - "UPHENO:0075777", - "UPHENO:0002536", - "UPHENO:0076710", - "UPHENO:0084489", - "UBERON:0010000", - "UBERON:0000467", - "UBERON:0010709", - "UBERON:0006058", + "UPHENO:0001001", "BFO:0000002", - "HP:0003011", + "UPHENO:0002332", + "BFO:0000001", "UPHENO:0002816", - "UPHENO:0020584", - "HP:0008968", - "BFO:0000002", - "UBERON:0000061", - "UBERON:0002103", - "UBERON:0010538", - "UBERON:0007271", - "UBERON:0014792", - "UBERON:0003823", - "UBERON:0004256", - "UBERON:0006067", + "PATO:0000001", "HP:0000001", - "UPHENO:0002644", "HP:0000118", + "UBERON:0000062", + "UPHENO:0082875", + "UPHENO:0080555", + "HP:0011804", + "UBERON:0000467", + "UBERON:0005090", "BFO:0000001", - "UPHENO:0002830", - "UBERON:0002101", - "UBERON:0004709", - "UPHENO:0084535", - "HP:0011805", - "HP:0003712", - "UPHENO:0001002", - "BFO:0000020", - "UBERON:0004466", - "HP:0002814", - "HP:0001430", - "UPHENO:0001072", - "UPHENO:0003070", + "UBERON:0000061", + "UBERON:0000468", + "UBERON:0011216", + "HP:0003011", + "UPHENO:0002536", "UBERON:0000383", "UBERON:0001015", - "UBERON:0010890", - "UBERON:0003661", - "UBERON:0008784", - "UBERON:0002471", - "UBERON:0004482", - "UBERON:0001383", - "HP:0002981", - "UPHENO:0084763", - "UPHENO:0075195", - "HP:0030236", - "UPHENO:0084715", - "UPHENO:0084767", - "HP:0040064", - "PR:000050567", + "BFO:0000002", + "UPHENO:0001005", + "UPHENO:0001002", + "BFO:0000040", + "UBERON:0001062", + "UBERON:0010000", "UBERON:0001630", - "UBERON:0010758", "UPHENO:0075696", - "UPHENO:0075952", + "BFO:0000020", "BFO:0000004", - "UBERON:0004708", - "UBERON:0010707", - "UBERON:0000978", - "UBERON:0002529", - "UBERON:0007270", - "UBERON:0004480", - "UBERON:0014795", - "UBERON:0003663", - "UPHENO:0015280", - "UPHENO:0076692", - "PATO:0000001", - "UBERON:0000475", - "UBERON:0000062", - "UBERON:0000468", - "UBERON:0000026", - "UBERON:0000154", - "UPHENO:0001001", - "UPHENO:0001005", - "HP:0009127", - "HP:0001437", + "HP:0001324", + "HP:0033127", + "UPHENO:0001003", + "UPHENO:0002320", + "HP:0003701", + "UPHENO:0080556", "UBERON:0000465", - "RO:0002577", - "UBERON:0015212", ], - "object_label": "Calf muscle hypertrophy", + "object_label": "Proximal muscle weakness", "object_closure_label": [ - "abnormal hindlimb zeugopod", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal musculature of limb", - "organ system subdivision", - "Abnormality of the lower limb", - "abnormal phenotype by ontology source", - "Abnormality of the musculature of the limbs", - "abnormal anatomical entity morphology", - "quality", - "material entity", - "anatomical entity", - "lateral structure", - "musculature of body", - "musculature", - "leg", - "limb segment", - "pelvic appendage musculature", - "musculature of limb", - "pelvic appendage muscle", - "hindlimb muscle", - "Abnormality of the calf musculature", - "abnormal size of anatomical entity", - "Abnormality of the musculature of the lower limbs", - "hypertrophic multicellular anatomical structure", - "protein-containing material entity", - "muscle structure", - "skeletal musculature", - "appendage girdle complex", - "pelvic complex muscle", - "limb muscle", - "hypertrophic pelvic complex muscle", - "abnormal hindlimb zeugopod muscle", - "increased size of the anatomical entity", - "entity", + "phenotype", + "abnormal musculature", + "abnormality of muscle organ physiology", "multicellular anatomical structure", - "anatomical system", - "lower limb segment", - "zeugopod", - "musculature of lower limb", - "muscle of leg", - "Abnormality of the calf", + "muscle organ", "Abnormality of the musculature", - "abnormal musculature", - "abnormal anatomical entity", "independent continuant", - "anatomical structure", - "pelvic complex", - "abnormal anatomical entity", - "Abnormal skeletal muscle morphology", - "Skeletal muscle hypertrophy", - "Phenotypic abnormality", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "abnormal muscle organ morphology", - "paired limb/fin segment", - "appendage musculature", - "musculature of pelvic complex", - "hindlimb zeugopod", - "hindlimb zeugopod muscle", - "musculature of hindlimb zeugopod", "All", - "abnormal musculature of lower limb", - "abnormal anatomical entity morphology in the appendage girdle complex", + "entity", + "abnormal phenotype by ontology source", "Phenotypic abnormality", - "abnormal anatomical entity morphology", - "Muscle hypertrophy of the lower extremities", - "material anatomical entity", - "system", - "muscle organ", - "appendage", - "posterior region of body", - "increased size of the anatomical entity in independent continuant", + "Abnormal muscle physiology", + "abnormal anatomical entity", "specifically dependent continuant", - "abnormal leg", - "abnormal limb", - "multi-limb segment region", - "musculature of leg", - "Calf muscle hypertrophy", - "entity", - "limb", - "pelvic appendage", - "organism subdivision", - "organ", - "multicellular organism", - "skeletal muscle organ, vertebrate", - "phenotype", "continuant", - "Abnormality of muscle size", - "abnormally increased volume of anatomical entity", - "abnormal anatomical entity morphology in the pelvic complex", - "Abnormality of limbs", + "abnormality of anatomical entity physiology", "continuant", - "paired limb/fin", - "hindlimb", - "subdivision of organism along appendicular axis", + "decreased anatomical entity strength", + "abnormal anatomical entity", + "multicellular organism", + "organ system subdivision", + "abnormality of anatomical entity physiology", + "material entity", + "anatomical entity", + "Muscle weakness", + "Abnormality of the musculoskeletal system", + "phenotype by ontology source", + "organ", + "musculature of body", + "musculature", + "quality", + "Phenotypic abnormality", + "decreased muscle organ strength", + "anatomical structure", + "Proximal muscle weakness", + "material anatomical entity", + "entity", + "anatomical system", + "muscle structure", ], "object_taxon": None, "object_taxon_label": None, @@ -845,20 +711,20 @@ def association_table(): "agent_type": "manual_agent", "has_evidence": ["ECO:0000269"], "has_evidence_links": [{"id": "ECO:0000269", "url": "http://purl.obolibrary.org/obo/ECO_0000269"}], - "has_count": 5, - "has_total": 5, + "has_count": 32, + "has_total": 32, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0008981", + "grouping_key": "MONDO:0009676||biolink:has_phenotype|HP:0003701", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": ["PMID:8069911", "PMID:8538707"], + "publications": ["PMID:9731527", "PMID:9009996"], "publications_links": [ - {"id": "PMID:8069911", "url": "http://identifiers.org/pubmed/8069911"}, - {"id": "PMID:8538707", "url": "http://identifiers.org/pubmed/8538707"}, + {"id": "PMID:9731527", "url": "http://identifiers.org/pubmed/9731527"}, + {"id": "PMID:9009996", "url": "http://identifiers.org/pubmed/9009996"}, ], "frequency_qualifier": None, "onset_qualifier": None, @@ -902,268 +768,290 @@ def association_table(): "has_percentage_sortable_float": [100.0], }, { - "id": "uuid:2c1c6614-25e0-11ef-abb5-e629eea977bb", + "id": "uuid:093061ab-38d8-11ef-8dc1-0579903a0a12", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "subject": "MONDO:0011968", "original_subject": "OMIM:608099", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ + "MONDO:0020121", "MONDO:0004995", "MONDO:0016140", - "MONDO:0700223", - "MONDO:0016106", - "MONDO:0002081", - "MONDO:0016141", - "MONDO:0003847", - "MONDO:0003939", "BFO:0000017", + "OGMS:0000031", + "MONDO:0005021", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0005071", "MONDO:0005267", - "MONDO:0005217", - "MONDO:0700096", - "MONDO:0000591", + "MONDO:0011968", + "MONDO:0100546", "MONDO:0004994", - "MONDO:0020121", "MONDO:0016333", + "MONDO:0000001", + "MONDO:0016106", + "MONDO:0000591", + "BFO:0000002", + "MONDO:0005217", + "MONDO:0015152", "MONDO:0000429", - "MONDO:0016971", - "MONDO:0006025", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", "MONDO:0005336", - "MONDO:0100545", - "MONDO:0005021", - "BFO:0000001", "BFO:0000020", - "MONDO:0015152", - "BFO:0000002", - "BFO:0000016", - "MONDO:0000001", - "MONDO:0011968", - "MONDO:0100546", + "MONDO:0006025", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0016141", + "MONDO:0003847", + "MONDO:0016971", "MONDO:0100547", "MONDO:0016139", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0700096", + "BFO:0000001", ], "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", "subject_closure_label": [ "autosomal recessive limb-girdle muscular dystrophy type 2D", "hereditary neuromuscular disease", - "cardiogenetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", + "limb-girdle muscular dystrophy", + "disposition", "hereditary disease", + "nervous system disorder", + "heart disorder", + "continuant", "muscle tissue disorder", - "limb-girdle muscular dystrophy", - "realizable entity", - "human disease", - "intrinsic cardiomyopathy", - "disease", - "disease", "muscular dystrophy", - "autosomal genetic disease", - "progressive muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "continuant", - "familial cardiomyopathy", - "entity", - "musculoskeletal system disorder", - "qualitative or quantitative defects of alpha-sarcoglycan", - "cardiomyopathy", - "specifically dependent continuant", - "skeletal muscle disorder", - "neuromuscular disease", "cardiovascular disorder", "sarcoglycanopathy", - "hereditary skeletal muscle disorder", - "familial dilated cardiomyopathy", + "familial cardiomyopathy", + "disease", "dilated cardiomyopathy", + "cardiomyopathy", + "hereditary skeletal muscle disorder", + "intrinsic cardiomyopathy", "autosomal recessive disease", - "nervous system disorder", - "heart disorder", - "disposition", + "skeletal muscle disorder", + "neuromuscular disease", + "specifically dependent continuant", + "progressive muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "qualitative or quantitative defects of alpha-sarcoglycan", + "realizable entity", + "familial dilated cardiomyopathy", + "autosomal genetic disease", + "cardiogenetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "entity", + "myopathy", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0003236", + "object": "HP:0008981", "original_object": None, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0051763", - "HP:0040081", - "UPHENO:0001003", - "BFO:0000040", - "CHEBI:33579", - "UBERON:0000468", - "CHEBI:33302", - "CHEBI:33304", - "GO:0002185", - "CHEBI:16541", - "HP:0001871", - "UPHENO:0077821", - "UPHENO:0002536", - "HP:0032180", - "HP:0033405", - "HP:0003236", - "BFO:0000015", - "BFO:0000004", - "UBERON:0010000", - "UBERON:0000467", - "GO:0061695", - "CHEBI:15841", + "UPHENO:0065599", + "UPHENO:0015280", + "UPHENO:0076692", "BFO:0000002", - "UPHENO:0046284", - "HP:0010876", - "GO:0032991", - "CHEBI:23367", - "UBERON:0000061", - "UBERON:0000463", - "UBERON:0002390", - "UBERON:0000179", - "CHEBI:33582", - "CHEBI:51143", - "CHEBI:25806", - "CHEBI:36962", + "HP:0002814", + "BFO:0000002", + "BFO:0000001", + "RO:0002577", + "PR:000050567", + "UBERON:0014892", + "UBERON:0004466", + "UBERON:0003823", + "UBERON:0004256", + "UBERON:0006067", + "UPHENO:0002816", + "UBERON:0000026", "HP:0000001", - "HP:0011021", - "UPHENO:0001002", + "UPHENO:0002644", "HP:0000118", - "HP:0001939", - "UPHENO:0051612", - "UPHENO:0051804", - "UBERON:0004120", - "UBERON:0006314", - "HP:0430071", - "BFO:0000020", - "UPHENO:0081547", - "UPHENO:0077826", - "UBERON:0001062", - "CHEBI:16670", - "UPHENO:0076286", - "GO:0008152", - "CHEBI:50860", - "CHEBI:50047", - "CHEBI:37622", - "CHEBI:33256", - "UPHENO:0076289", - "BFO:0000001", - "GO:0008150", - "CHEBI:33675", - "UBERON:0002193", - "UPHENO:0051668", - "UPHENO:0004459", + "UBERON:0000475", + "UBERON:0000062", + "UPHENO:0084489", + "UBERON:0000467", + "UBERON:0005090", + "UBERON:0018254", + "UPHENO:0075952", + "HP:0030236", + "UPHENO:0084715", "BFO:0000001", - "UBERON:0000178", - "GO:1990234", - "CHEBI:33839", - "CHEBI:35352", - "CHEBI:32988", - "CHEBI:36963", - "CHEBI:33285", - "HP:0004364", - "UPHENO:0051801", + "UBERON:0000061", + "UBERON:0000468", + "UBERON:0011216", + "UPHENO:0001001", + "HP:0008981", + "HP:0003011", + "HP:0001437", + "UPHENO:0002536", + "HP:0040064", + "UBERON:0000383", + "UBERON:0001015", + "UBERON:0010890", + "UBERON:0003661", + "UPHENO:0084535", + "UPHENO:0075777", + "HP:0011805", + "HP:0003712", + "UPHENO:0002647", + "UBERON:0002103", + "UPHENO:0001002", + "UPHENO:0076710", + "UBERON:0001062", + "UBERON:0010538", + "UBERON:0007271", + "UBERON:0014792", + "UPHENO:0001005", + "HP:0009127", + "UPHENO:0084763", + "BFO:0000020", + "UPHENO:0020584", + "HP:0008968", + "UBERON:0000978", + "UBERON:0002529", + "UBERON:0007270", + "UBERON:0004480", + "UBERON:0014795", + "UBERON:0003663", + "UPHENO:0084767", + "BFO:0000040", + "UBERON:0010000", + "UBERON:0001630", + "HP:0002981", + "UBERON:0015212", + "UBERON:0010709", + "UBERON:0006058", + "HP:0001430", + "UPHENO:0001072", + "HP:0033127", + "UPHENO:0001003", "PATO:0000001", - "UPHENO:0001001", - "UPHENO:0001005", - "BFO:0000003", - "BFO:0000002", - "GO:0005575", - "CHEBI:24431", + "UPHENO:0002830", + "UBERON:0004708", + "UBERON:0010707", + "UBERON:0000154", + "UBERON:0010758", + "UBERON:0008784", + "UBERON:0002471", + "UBERON:0004482", + "UBERON:0001383", + "UPHENO:0075696", + "UPHENO:0075195", + "UPHENO:0003070", + "BFO:0000004", + "UBERON:0002101", + "UBERON:0004709", "UBERON:0000465", - "PR:000050567", - "GO:1902494", - "CHEBI:36357", ], - "object_label": "Elevated circulating creatine kinase concentration", + "object_label": "Calf muscle hypertrophy", "object_closure_label": [ - "abnormal independent continuant chemical entity level", - "abnormal independent continuant protein polypeptide chain level", - "multicellular organism", - "abnormal phenotype by ontology source", - "Abnormality of blood and blood-forming tissues", - "abnormal independent continuant nitrogen molecular entity level", - "Abnormal circulating protein concentration", - "quality", + "Abnormality of the lower limb", + "abnormal musculature", + "Abnormality of the musculature of the lower limbs", + "skeletal muscle organ, vertebrate", + "musculature of leg", + "hindlimb zeugopod", + "hindlimb zeugopod muscle", + "musculature of hindlimb zeugopod", + "abnormal hindlimb zeugopod muscle", + "Abnormal skeletal muscle morphology", + "Skeletal muscle hypertrophy", + "abnormal leg", "material entity", - "catalytic complex", - "polyatomic entity", - "creatine kinase complex", - "protein polypeptide chain", - "organonitrogen compound", - "amide", - "organooxygen compound", - "heteroorganic entity", - "Abnormal circulating nitrogen compound concentration", - "Elevated circulating creatine kinase concentration", - "main group molecular entity", - "macromolecule", - "transferase complex", - "organic molecular entity", - "Abnormal circulating organic compound concentration", - "abnormal role blood level", - "abnormal role bodily fluid level", - "abnormal blood nitrogen molecular entity level", - "occurrent", - "continuant", "multicellular anatomical structure", - "anatomical system", - "organic amino compound", - "carboxamide", - "primary amide", - "abnormal role independent continuant level", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal musculature of limb", + "continuant", + "muscle organ", + "increased size of the anatomical entity in independent continuant", + "Abnormality of the musculature", + "abnormal anatomical entity morphology", + "appendage", + "All", + "abnormal musculature of lower limb", + "abnormal anatomical entity morphology in the pelvic complex", + "entity", "Phenotypic abnormality", - "abnormal chemical entity level", + "hypertrophic multicellular anatomical structure", + "limb", + "pelvic appendage", + "multi-limb segment region", + "Abnormality of the calf", + "paired limb/fin", + "posterior region of body", + "subdivision of organism along appendicular axis", + "abnormal hindlimb zeugopod", + "continuant", + "hindlimb", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "Muscle hypertrophy of the lower extremities", + "lateral structure", + "pelvic complex muscle", + "limb muscle", + "abnormal phenotype by ontology source", + "Abnormality of the musculature of the limbs", + "abnormal anatomical entity morphology in the appendage girdle complex", "abnormal anatomical entity", - "anatomical structure", - "organism substance", - "transferase complex, transferring phosphorus-containing groups", - "polypeptide", - "Abnormal circulating creatine kinase concentration", + "Abnormality of limbs", + "system", + "protein-containing material entity", + "multicellular organism", + "organ system subdivision", + "Abnormality of muscle size", + "abnormally increased volume of anatomical entity", + "anatomical entity", + "phenotype", + "Calf muscle hypertrophy", + "Abnormality of the calf musculature", + "increased size of the anatomical entity", + "Abnormality of the musculoskeletal system", "phenotype by ontology source", - "Abnormal circulating metabolite concentration", - "Abnormal circulating organic amino compound concentration", - "entity", - "process", - "independent continuant", - "nitrogen molecular entity", - "oxygen molecular entity", - "organochalcogen compound", - "All", - "Abnormality of circulating enzyme level", + "quality", + "abnormal limb", + "organism subdivision", + "organ", + "musculature of body", + "musculature", + "leg", + "limb segment", + "pelvic appendage musculature", + "musculature of limb", + "pelvic appendage muscle", + "hindlimb muscle", + "abnormal anatomical entity", + "pelvic complex", + "paired limb/fin segment", + "appendage musculature", + "musculature of pelvic complex", + "hypertrophic pelvic complex muscle", "Phenotypic abnormality", - "cellular_component", - "chemical entity", + "anatomical structure", + "appendage girdle complex", + "lower limb segment", + "zeugopod", + "musculature of lower limb", + "muscle of leg", + "abnormal muscle organ morphology", "material anatomical entity", - "protein-containing material entity", - "p-block molecular entity", - "hemolymphoid system", - "abnormal multicellular organism chemical entity level", - "specifically dependent continuant", + "abnormal size of anatomical entity", "entity", - "abnormal blood protein polypeptide chain level", - "abnormal blood chemical entity level", - "protein-containing complex", - "molecular entity", - "carbon group molecular entity", - "peptide", - "Abnormality of metabolism/homeostasis", - "biological_process", - "metabolic process", - "mesoderm-derived structure", - "bodily fluid", - "pnictogen molecular entity", - "chalcogen molecular entity", - "phenotype", - "continuant", - "abnormal hematopoietic system", - "anatomical entity", - "blood", - "hematopoietic system", - "haemolymphatic fluid", + "independent continuant", + "anatomical system", + "muscle structure", + "skeletal musculature", ], "object_taxon": None, "object_taxon_label": None, @@ -1180,7 +1068,7 @@ def association_table(): "has_total": 5, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0003236", + "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0008981", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", @@ -1233,150 +1121,268 @@ def association_table(): "has_percentage_sortable_float": [100.0], }, { - "id": "uuid:2e2c0c2a-25e0-11ef-abb5-e629eea977bb", + "id": "uuid:093061a4-38d8-11ef-8dc1-0579903a0a12", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0013178", - "original_subject": "OMIM:613205", + "subject": "MONDO:0011968", + "original_subject": "OMIM:608099", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ + "MONDO:0020121", + "MONDO:0004995", + "MONDO:0016140", + "BFO:0000017", + "OGMS:0000031", + "MONDO:0005021", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0005071", + "MONDO:0005267", + "MONDO:0011968", + "MONDO:0100546", + "MONDO:0004994", + "MONDO:0016333", + "MONDO:0000001", + "MONDO:0016106", + "MONDO:0000591", + "BFO:0000002", + "MONDO:0005217", + "MONDO:0015152", + "MONDO:0000429", + "BFO:0000016", + "MONDO:0003939", "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "MONDO:0006025", + "MONDO:0100545", "MONDO:0002081", + "MONDO:0016141", "MONDO:0003847", - "MONDO:0003939", - "BFO:0000017", - "MONDO:0005071", + "MONDO:0016971", + "MONDO:0100547", + "MONDO:0016139", "MONDO:0700096", - "MONDO:0020121", "BFO:0000001", - "MONDO:0019950", - "BFO:0000020", - "MONDO:0005336", - "MONDO:0100545", - "MONDO:0013178", - "MONDO:0002320", - "BFO:0000002", - "BFO:0000016", - "MONDO:0000001", - "MONDO:0100546", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", ], - "subject_label": "congenital muscular dystrophy due to LMNA mutation", + "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", "subject_closure_label": [ + "autosomal recessive limb-girdle muscular dystrophy type 2D", "hereditary neuromuscular disease", + "limb-girdle muscular dystrophy", + "disposition", "hereditary disease", + "nervous system disorder", + "heart disorder", + "continuant", "muscle tissue disorder", - "realizable entity", - "human disease", - "disease", - "disease", "muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "continuant", - "musculoskeletal system disorder", + "cardiovascular disorder", + "sarcoglycanopathy", + "familial cardiomyopathy", + "disease", + "dilated cardiomyopathy", + "cardiomyopathy", + "hereditary skeletal muscle disorder", + "intrinsic cardiomyopathy", + "autosomal recessive disease", "skeletal muscle disorder", "neuromuscular disease", - "hereditary skeletal muscle disorder", "specifically dependent continuant", - "congenital muscular dystrophy", + "progressive muscular dystrophy", + "autosomal recessive limb-girdle muscular dystrophy", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "qualitative or quantitative defects of alpha-sarcoglycan", + "realizable entity", + "familial dilated cardiomyopathy", + "autosomal genetic disease", + "cardiogenetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", "entity", - "nervous system disorder", - "disposition", - "congenital muscular dystrophy due to LMNA mutation", - "congenital nervous system disorder", + "myopathy", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0001252", + "object": "HP:0003236", "original_object": None, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0001001", - "HP:0003808", - "HP:0033127", - "BFO:0000040", - "UBERON:0005090", - "UBERON:0000468", - "UBERON:0011216", - "UPHENO:0002536", - "HP:0011804", - "UBERON:0010000", - "UBERON:0000467", - "UPHENO:0082555", - "HP:0003011", - "UPHENO:0002816", - "UBERON:0000061", + "UPHENO:0077821", + "CHEBI:33302", + "CHEBI:33304", + "BFO:0000002", + "PR:000050567", + "CHEBI:33582", + "CHEBI:16670", "HP:0000001", + "HP:0011021", "HP:0000118", "UPHENO:0001003", - "UPHENO:0001002", - "BFO:0000020", - "UBERON:0001062", - "UPHENO:0002320", - "UBERON:0000383", - "UBERON:0001015", - "UPHENO:0075696", + "UBERON:0000178", + "HP:0004364", + "HP:0010876", + "HP:0003236", + "GO:0008152", + "UBERON:0000467", + "CHEBI:33579", + "UPHENO:0051668", + "GO:0032991", + "CHEBI:23367", + "UBERON:0000468", + "UPHENO:0001001", + "UPHENO:0046284", "BFO:0000001", - "UBERON:0001630", + "HP:0001871", + "UPHENO:0002536", + "CHEBI:50860", + "HP:0430071", + "UPHENO:0004459", + "BFO:0000003", "BFO:0000002", - "UPHENO:0082557", + "UBERON:0002390", + "UBERON:0000179", + "GO:0002185", + "CHEBI:16541", + "UPHENO:0001002", + "UPHENO:0081547", + "UPHENO:0077826", + "HP:0032180", + "HP:0033405", + "UBERON:0001062", + "CHEBI:51143", + "CHEBI:25806", + "CHEBI:36962", + "UPHENO:0001005", + "BFO:0000020", + "CHEBI:35352", + "CHEBI:32988", + "CHEBI:36963", + "CHEBI:33285", + "UPHENO:0051763", + "UPHENO:0051804", + "GO:0008150", + "BFO:0000040", + "UBERON:0010000", + "CHEBI:33675", + "UBERON:0002193", + "UPHENO:0076289", + "HP:0001939", "BFO:0000001", + "BFO:0000015", "BFO:0000004", - "UPHENO:0082875", + "GO:1902494", + "CHEBI:36357", + "GO:0061695", + "CHEBI:15841", + "UPHENO:0076286", + "HP:0040081", "PATO:0000001", - "UBERON:0000062", - "UPHENO:0001005", - "UPHENO:0002332", - "HP:0001252", - "BFO:0000002", + "UPHENO:0051612", + "UBERON:0000061", + "UBERON:0000463", + "GO:1990234", + "CHEBI:33839", + "CHEBI:50047", + "CHEBI:37622", + "CHEBI:33256", + "UBERON:0004120", + "UBERON:0006314", + "UPHENO:0051801", + "GO:0005575", + "CHEBI:24431", "UBERON:0000465", ], - "object_label": "Hypotonia", + "object_label": "Elevated circulating creatine kinase concentration", "object_closure_label": [ - "multicellular organism", - "organ system subdivision", - "abnormality of muscle organ physiology", - "abnormal phenotype by ontology source", - "quality", + "entity", + "carbon group molecular entity", + "peptide", + "abnormal hematopoietic system", + "biological_process", "material entity", - "musculature of body", - "musculature", - "abnormality of anatomical entity physiology", - "Abnormal muscle physiology", - "muscle structure", - "continuant", "multicellular anatomical structure", - "anatomical system", - "abnormal anatomical entity", - "continuant", - "Abnormality of the musculature", - "abnormal musculature", - "abnormal anatomical entity", + "creatine kinase complex", + "protein polypeptide chain", + "p-block molecular entity", + "hemolymphoid system", + "abnormal chemical entity level", + "process", "independent continuant", - "anatomical structure", - "Phenotypic abnormality", - "Abnormality of the musculoskeletal system", - "entity", "All", + "Abnormality of circulating enzyme level", + "pnictogen molecular entity", + "chalcogen molecular entity", "Phenotypic abnormality", - "abnormality of anatomical entity physiology", - "Hypotonia", - "material anatomical entity", - "muscle organ", - "Abnormal muscle tone", - "specifically dependent continuant", - "phenotype by ontology source", - "decreased muscle organ tone", + "Abnormal circulating protein concentration", + "Elevated circulating creatine kinase concentration", + "metabolic process", + "mesoderm-derived structure", + "bodily fluid", + "abnormal role independent continuant level", + "abnormal blood chemical entity level", + "anatomical structure", + "organism substance", + "abnormal independent continuant chemical entity level", + "continuant", "entity", - "phenotype", - "organ", - "decreased anatomical entity tone", + "occurrent", + "continuant", + "hematopoietic system", + "haemolymphatic fluid", + "specifically dependent continuant", + "catalytic complex", + "polyatomic entity", + "organic molecular entity", + "abnormal phenotype by ontology source", + "abnormal anatomical entity", + "protein-containing material entity", + "multicellular organism", + "Abnormal circulating nitrogen compound concentration", + "Abnormality of blood and blood-forming tissues", "anatomical entity", + "phenotype", + "abnormal role blood level", + "Abnormal circulating creatine kinase concentration", + "quality", + "abnormal blood protein polypeptide chain level", + "blood", + "organonitrogen compound", + "amide", + "organooxygen compound", + "heteroorganic entity", + "abnormal independent continuant nitrogen molecular entity level", + "phenotype by ontology source", + "transferase complex, transferring phosphorus-containing groups", + "polypeptide", + "nitrogen molecular entity", + "oxygen molecular entity", + "organochalcogen compound", + "Abnormal circulating organic compound concentration", + "Phenotypic abnormality", + "abnormal independent continuant protein polypeptide chain level", + "protein-containing complex", + "molecular entity", + "transferase complex", + "macromolecule", + "carboxamide", + "organic amino compound", + "primary amide", + "abnormal role bodily fluid level", + "abnormal blood nitrogen molecular entity level", + "Abnormal circulating metabolite concentration", + "Abnormal circulating organic amino compound concentration", + "cellular_component", + "chemical entity", + "material anatomical entity", + "abnormal multicellular organism chemical entity level", + "Abnormality of metabolism/homeostasis", + "anatomical system", + "main group molecular entity", ], "object_taxon": None, "object_taxon_label": None, @@ -1389,20 +1395,20 @@ def association_table(): "agent_type": "manual_agent", "has_evidence": ["ECO:0000269"], "has_evidence_links": [{"id": "ECO:0000269", "url": "http://purl.obolibrary.org/obo/ECO_0000269"}], - "has_count": 21, - "has_total": 21, + "has_count": 5, + "has_total": 5, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0013178||biolink:has_phenotype|HP:0001252", + "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0003236", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": ["PMID:15148145", "PMID:18551513"], + "publications": ["PMID:8069911", "PMID:8538707"], "publications_links": [ - {"id": "PMID:15148145", "url": "http://identifiers.org/pubmed/15148145"}, - {"id": "PMID:18551513", "url": "http://identifiers.org/pubmed/18551513"}, + {"id": "PMID:8069911", "url": "http://identifiers.org/pubmed/8069911"}, + {"id": "PMID:8538707", "url": "http://identifiers.org/pubmed/8538707"}, ], "frequency_qualifier": None, "onset_qualifier": None, diff --git a/backend/tests/fixtures/association_table_response.py b/backend/tests/fixtures/association_table_response.py index b53a17bb3..87cd27bb1 100644 --- a/backend/tests/fixtures/association_table_response.py +++ b/backend/tests/fixtures/association_table_response.py @@ -5,7 +5,7 @@ def association_table_response(): return { "responseHeader": { - "QTime": 0, + "QTime": 2, "params": { "mm": "100%", "q": "*:*", @@ -23,11 +23,177 @@ def association_table_response(): }, }, "response": { - "num_found": 3941, + "num_found": 3959, "start": 0, "docs": [ { - "id": "uuid:2d23fd60-25e0-11ef-abb5-e629eea977bb", + "id": "uuid:0f88c0b8-38d8-11ef-8dc1-0579903a0a12", + "original_subject": "OMIM:620725", + "predicate": "biolink:has_phenotype", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "agent_type": "manual_agent", + "aggregator_knowledge_source": ["infores:monarchinitiative"], + "knowledge_level": "knowledge_assertion", + "primary_knowledge_source": "infores:hpo-annotations", + "publications": ["PMID:11865138", "PMID:17886299"], + "provided_by": "hpoa_disease_to_phenotype_edges", + "has_evidence": ["ECO:0000269"], + "has_count": 11, + "has_percentage": 100.0, + "has_quotient": 1.0, + "has_total": 11, + "subject": "MONDO:0958233", + "object": "HP:0003701", + "subject_label": "Bethlem myopathy 1B", + "subject_category": "biolink:Disease", + "subject_namespace": "MONDO", + "subject_closure": [ + "MONDO:0020121", + "MONDO:0019952", + "BFO:0000017", + "OGMS:0000031", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0005071", + "MONDO:0100546", + "MONDO:0008029", + "MONDO:0000001", + "MONDO:0016106", + "BFO:0000002", + "MONDO:0958233", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "MONDO:0002320", + "BFO:0000001", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0019950", + "MONDO:0003847", + "MONDO:0700096", + ], + "subject_closure_label": [ + "hereditary neuromuscular disease", + "disposition", + "hereditary disease", + "nervous system disorder", + "continuant", + "muscle tissue disorder", + "muscular dystrophy", + "disease", + "Bethlem myopathy", + "hereditary skeletal muscle disorder", + "skeletal muscle disorder", + "neuromuscular disease", + "congenital nervous system disorder", + "entity", + "specifically dependent continuant", + "progressive muscular dystrophy", + "disease", + "Bethlem myopathy 1B", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital muscular dystrophy", + "congenital myopathy", + "realizable entity", + "human disease", + "myopathy", + ], + "object_label": "Proximal muscle weakness", + "object_category": "biolink:PhenotypicFeature", + "object_namespace": "HP", + "object_closure": [ + "UPHENO:0001001", + "BFO:0000002", + "UPHENO:0002332", + "BFO:0000001", + "UPHENO:0002816", + "PATO:0000001", + "HP:0000001", + "HP:0000118", + "UBERON:0000062", + "UPHENO:0082875", + "UPHENO:0080555", + "HP:0011804", + "UBERON:0000467", + "UBERON:0005090", + "BFO:0000001", + "UBERON:0000061", + "UBERON:0000468", + "UBERON:0011216", + "HP:0003011", + "UPHENO:0002536", + "UBERON:0000383", + "UBERON:0001015", + "BFO:0000002", + "UPHENO:0001005", + "UPHENO:0001002", + "BFO:0000040", + "UBERON:0001062", + "UBERON:0010000", + "UBERON:0001630", + "UPHENO:0075696", + "BFO:0000020", + "BFO:0000004", + "HP:0001324", + "HP:0033127", + "UPHENO:0001003", + "UPHENO:0002320", + "HP:0003701", + "UPHENO:0080556", + "UBERON:0000465", + ], + "object_closure_label": [ + "phenotype", + "abnormal musculature", + "abnormality of muscle organ physiology", + "multicellular anatomical structure", + "muscle organ", + "Abnormality of the musculature", + "independent continuant", + "All", + "entity", + "abnormal phenotype by ontology source", + "Phenotypic abnormality", + "Abnormal muscle physiology", + "abnormal anatomical entity", + "specifically dependent continuant", + "continuant", + "abnormality of anatomical entity physiology", + "continuant", + "decreased anatomical entity strength", + "abnormal anatomical entity", + "multicellular organism", + "organ system subdivision", + "abnormality of anatomical entity physiology", + "material entity", + "anatomical entity", + "Muscle weakness", + "Abnormality of the musculoskeletal system", + "phenotype by ontology source", + "organ", + "musculature of body", + "musculature", + "quality", + "Phenotypic abnormality", + "decreased muscle organ strength", + "anatomical structure", + "Proximal muscle weakness", + "material anatomical entity", + "entity", + "anatomical system", + "muscle structure", + ], + "evidence_count": 3, + "grouping_key": "MONDO:0958233||biolink:has_phenotype|HP:0003701", + "frequency_computed_sortable_float": [1.0], + "has_quotient_sortable_float": [1.0], + "has_percentage_sortable_float": [100.0], + }, + { + "id": "uuid:0b39d5c5-38d8-11ef-8dc1-0579903a0a12", "original_subject": "OMIM:612937", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", @@ -48,241 +214,241 @@ def association_table_response(): "subject_category": "biolink:Disease", "subject_namespace": "MONDO", "subject_closure": [ - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", + "MONDO:0020121", "BFO:0000017", + "OGMS:0000031", + "BFO:0000002", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0005071", + "MONDO:0100546", + "MONDO:0000001", "MONDO:0005500", "MONDO:0005066", - "MONDO:0005071", - "BFO:0000002", - "MONDO:0700096", - "MONDO:0020121", - "MONDO:0017749", - "MONDO:0019950", + "MONDO:0013049", "MONDO:0018276", + "MONDO:0015286", "MONDO:0024322", - "BFO:0000020", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", "MONDO:0005336", - "MONDO:0100545", - "MONDO:0019052", - "MONDO:0015286", + "BFO:0000020", + "MONDO:0017749", "MONDO:0002320", - "MONDO:0013049", - "BFO:0000016", "BFO:0000001", - "MONDO:0000001", - "MONDO:0100546", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0019950", + "MONDO:0003847", + "MONDO:0700096", + "MONDO:0019052", ], "subject_closure_label": [ - "DPM3-congenital disorder of glycosylation", "hereditary neuromuscular disease", + "disorder of glycosylation", + "disposition", "hereditary disease", + "nervous system disorder", "muscle tissue disorder", - "realizable entity", - "human disease", - "disease", - "disease", "muscular dystrophy", + "disease", + "disorder of multiple glycosylation", + "hereditary skeletal muscle disorder", "congenital disorder of glycosylation type I", "metabolic disease", - "muscular dystrophy-dystroglycanopathy", - "myopathy", - "hereditary neurological disease", - "inborn errors of metabolism", - "disorder of glycosylation", - "musculoskeletal system disorder", + "DPM3-congenital disorder of glycosylation", + "continuant", "skeletal muscle disorder", "neuromuscular disease", - "hereditary skeletal muscle disorder", - "specifically dependent continuant", + "congenital nervous system disorder", "entity", - "congenital muscular dystrophy", - "disorder of multiple glycosylation", - "nervous system disorder", - "continuant", - "disposition", + "muscular dystrophy-dystroglycanopathy", + "specifically dependent continuant", "congenital disorder of glycosylation", - "congenital nervous system disorder", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital muscular dystrophy", + "realizable entity", + "human disease", + "inborn errors of metabolism", + "myopathy", ], "object_label": "Elevated circulating creatine kinase concentration", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "UPHENO:0051763", - "HP:0040081", - "UPHENO:0001003", - "BFO:0000040", - "CHEBI:33579", - "UBERON:0000468", + "UPHENO:0077821", "CHEBI:33302", "CHEBI:33304", - "GO:0002185", - "CHEBI:16541", - "HP:0001871", - "UPHENO:0077821", - "UPHENO:0002536", - "HP:0032180", - "HP:0033405", - "HP:0003236", - "BFO:0000015", - "BFO:0000004", - "UBERON:0010000", - "UBERON:0000467", - "GO:0061695", - "CHEBI:15841", "BFO:0000002", - "UPHENO:0046284", - "HP:0010876", - "GO:0032991", - "CHEBI:23367", - "UBERON:0000061", - "UBERON:0000463", - "UBERON:0002390", - "UBERON:0000179", + "PR:000050567", "CHEBI:33582", - "CHEBI:51143", - "CHEBI:25806", - "CHEBI:36962", + "CHEBI:16670", "HP:0000001", "HP:0011021", - "UPHENO:0001002", "HP:0000118", - "HP:0001939", - "UPHENO:0051612", - "UPHENO:0051804", - "UBERON:0004120", - "UBERON:0006314", + "UPHENO:0001003", + "UBERON:0000178", + "HP:0004364", + "HP:0010876", + "HP:0003236", + "GO:0008152", + "UBERON:0000467", + "CHEBI:33579", + "UPHENO:0051668", + "GO:0032991", + "CHEBI:23367", + "UBERON:0000468", + "UPHENO:0001001", + "UPHENO:0046284", + "BFO:0000001", + "HP:0001871", + "UPHENO:0002536", + "CHEBI:50860", "HP:0430071", - "BFO:0000020", + "UPHENO:0004459", + "BFO:0000003", + "BFO:0000002", + "UBERON:0002390", + "UBERON:0000179", + "GO:0002185", + "CHEBI:16541", + "UPHENO:0001002", "UPHENO:0081547", "UPHENO:0077826", + "HP:0032180", + "HP:0033405", "UBERON:0001062", - "CHEBI:16670", - "UPHENO:0076286", - "GO:0008152", - "CHEBI:50860", - "CHEBI:50047", - "CHEBI:37622", - "CHEBI:33256", - "UPHENO:0076289", - "BFO:0000001", + "CHEBI:51143", + "CHEBI:25806", + "CHEBI:36962", + "UPHENO:0001005", + "BFO:0000020", + "CHEBI:35352", + "CHEBI:32988", + "CHEBI:36963", + "CHEBI:33285", + "UPHENO:0051763", + "UPHENO:0051804", "GO:0008150", + "BFO:0000040", + "UBERON:0010000", "CHEBI:33675", "UBERON:0002193", - "UPHENO:0051668", - "UPHENO:0004459", + "UPHENO:0076289", + "HP:0001939", "BFO:0000001", - "UBERON:0000178", + "BFO:0000015", + "BFO:0000004", + "GO:1902494", + "CHEBI:36357", + "GO:0061695", + "CHEBI:15841", + "UPHENO:0076286", + "HP:0040081", + "PATO:0000001", + "UPHENO:0051612", + "UBERON:0000061", + "UBERON:0000463", "GO:1990234", "CHEBI:33839", - "CHEBI:35352", - "CHEBI:32988", - "CHEBI:36963", - "CHEBI:33285", - "HP:0004364", + "CHEBI:50047", + "CHEBI:37622", + "CHEBI:33256", + "UBERON:0004120", + "UBERON:0006314", "UPHENO:0051801", - "PATO:0000001", - "UPHENO:0001001", - "UPHENO:0001005", - "BFO:0000003", - "BFO:0000002", "GO:0005575", "CHEBI:24431", "UBERON:0000465", - "PR:000050567", - "GO:1902494", - "CHEBI:36357", ], "object_closure_label": [ + "entity", + "carbon group molecular entity", + "peptide", + "abnormal hematopoietic system", + "biological_process", + "material entity", + "multicellular anatomical structure", + "creatine kinase complex", + "protein polypeptide chain", + "p-block molecular entity", + "hemolymphoid system", + "abnormal chemical entity level", + "process", + "independent continuant", + "All", + "Abnormality of circulating enzyme level", + "pnictogen molecular entity", + "chalcogen molecular entity", + "Phenotypic abnormality", + "Abnormal circulating protein concentration", + "Elevated circulating creatine kinase concentration", + "metabolic process", + "mesoderm-derived structure", + "bodily fluid", + "abnormal role independent continuant level", + "abnormal blood chemical entity level", + "anatomical structure", + "organism substance", "abnormal independent continuant chemical entity level", - "abnormal independent continuant protein polypeptide chain level", - "multicellular organism", + "continuant", + "entity", + "occurrent", + "continuant", + "hematopoietic system", + "haemolymphatic fluid", + "specifically dependent continuant", + "catalytic complex", + "polyatomic entity", + "organic molecular entity", "abnormal phenotype by ontology source", + "abnormal anatomical entity", + "protein-containing material entity", + "multicellular organism", + "Abnormal circulating nitrogen compound concentration", "Abnormality of blood and blood-forming tissues", - "abnormal independent continuant nitrogen molecular entity level", - "Abnormal circulating protein concentration", + "anatomical entity", + "phenotype", + "abnormal role blood level", + "Abnormal circulating creatine kinase concentration", "quality", - "material entity", - "catalytic complex", - "polyatomic entity", - "creatine kinase complex", - "protein polypeptide chain", + "abnormal blood protein polypeptide chain level", + "blood", "organonitrogen compound", "amide", "organooxygen compound", "heteroorganic entity", - "Abnormal circulating nitrogen compound concentration", - "Elevated circulating creatine kinase concentration", - "main group molecular entity", - "macromolecule", - "transferase complex", - "organic molecular entity", - "Abnormal circulating organic compound concentration", - "abnormal role blood level", - "abnormal role bodily fluid level", - "abnormal blood nitrogen molecular entity level", - "occurrent", - "continuant", - "multicellular anatomical structure", - "anatomical system", - "organic amino compound", - "carboxamide", - "primary amide", - "abnormal role independent continuant level", - "Phenotypic abnormality", - "abnormal chemical entity level", - "abnormal anatomical entity", - "anatomical structure", - "organism substance", + "abnormal independent continuant nitrogen molecular entity level", + "phenotype by ontology source", "transferase complex, transferring phosphorus-containing groups", "polypeptide", - "Abnormal circulating creatine kinase concentration", - "phenotype by ontology source", - "Abnormal circulating metabolite concentration", - "Abnormal circulating organic amino compound concentration", - "entity", - "process", - "independent continuant", "nitrogen molecular entity", "oxygen molecular entity", "organochalcogen compound", - "All", - "Abnormality of circulating enzyme level", + "Abnormal circulating organic compound concentration", "Phenotypic abnormality", + "abnormal independent continuant protein polypeptide chain level", + "protein-containing complex", + "molecular entity", + "transferase complex", + "macromolecule", + "carboxamide", + "organic amino compound", + "primary amide", + "abnormal role bodily fluid level", + "abnormal blood nitrogen molecular entity level", + "Abnormal circulating metabolite concentration", + "Abnormal circulating organic amino compound concentration", "cellular_component", "chemical entity", "material anatomical entity", - "protein-containing material entity", - "p-block molecular entity", - "hemolymphoid system", "abnormal multicellular organism chemical entity level", - "specifically dependent continuant", - "entity", - "abnormal blood protein polypeptide chain level", - "abnormal blood chemical entity level", - "protein-containing complex", - "molecular entity", - "carbon group molecular entity", - "peptide", "Abnormality of metabolism/homeostasis", - "biological_process", - "metabolic process", - "mesoderm-derived structure", - "bodily fluid", - "pnictogen molecular entity", - "chalcogen molecular entity", - "phenotype", - "continuant", - "abnormal hematopoietic system", - "anatomical entity", - "blood", - "hematopoietic system", - "haemolymphatic fluid", + "anatomical system", + "main group molecular entity", ], "evidence_count": 3, "grouping_key": "MONDO:0013049||biolink:has_phenotype|HP:0003236", @@ -291,7 +457,7 @@ def association_table_response(): "has_percentage_sortable_float": [100.0], }, { - "id": "uuid:2e779d52-25e0-11ef-abb5-e629eea977bb", + "id": "uuid:0dc5ac14-38d8-11ef-8dc1-0579903a0a12", "original_subject": "OMIM:253601", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", @@ -312,147 +478,147 @@ def association_table_response(): "subject_category": "biolink:Disease", "subject_namespace": "MONDO", "subject_closure": [ - "MONDO:0700223", - "MONDO:0016106", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", - "MONDO:0016145", + "MONDO:0020121", "BFO:0000017", - "MONDO:0005071", + "OGMS:0000031", "BFO:0000002", - "MONDO:0700096", - "MONDO:0020121", - "MONDO:0000429", - "BFO:0000020", - "MONDO:0016971", - "MONDO:0006025", - "MONDO:0005336", - "MONDO:0100545", - "MONDO:0009676", - "MONDO:0015152", - "BFO:0000016", + "MONDO:0020120", + "MONDO:0019056", "BFO:0000001", - "MONDO:0000001", + "MONDO:0005071", "MONDO:0100546", + "MONDO:0000001", + "MONDO:0016106", + "MONDO:0009676", + "MONDO:0016145", + "MONDO:0015152", + "MONDO:0000429", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "MONDO:0006025", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0003847", + "MONDO:0016971", "MONDO:0016139", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0700096", ], "subject_closure_label": [ "hereditary neuromuscular disease", - "qualitative or quantitative protein defects in neuromuscular diseases", + "limb-girdle muscular dystrophy", + "disposition", "hereditary disease", + "nervous system disorder", "muscle tissue disorder", - "limb-girdle muscular dystrophy", - "realizable entity", - "human disease", - "disease", - "disease", "muscular dystrophy", - "autosomal genetic disease", - "progressive muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "musculoskeletal system disorder", - "skeletal muscle disorder", - "neuromuscular disease", + "disease", "hereditary skeletal muscle disorder", - "specifically dependent continuant", - "entity", - "qualitative or quantitative defects of dysferlin", "autosomal recessive disease", - "nervous system disorder", "continuant", - "disposition", - "autosomal recessive limb-girdle muscular dystrophy type 2B", + "skeletal muscle disorder", + "neuromuscular disease", + "qualitative or quantitative defects of dysferlin", + "specifically dependent continuant", + "progressive muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy", + "disease", + "autosomal recessive limb-girdle muscular dystrophy type 2B", + "hereditary neurological disease", + "musculoskeletal system disorder", + "realizable entity", + "autosomal genetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "myopathy", + "entity", ], "object_label": "Proximal muscle weakness", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "HP:0033127", - "UPHENO:0001003", - "BFO:0000040", - "UBERON:0001062", + "UPHENO:0001001", + "BFO:0000002", + "UPHENO:0002332", + "BFO:0000001", + "UPHENO:0002816", + "PATO:0000001", + "HP:0000001", + "HP:0000118", + "UBERON:0000062", + "UPHENO:0082875", + "UPHENO:0080555", + "HP:0011804", "UBERON:0000467", "UBERON:0005090", + "BFO:0000001", + "UBERON:0000061", "UBERON:0000468", "UBERON:0011216", - "HP:0003701", + "HP:0003011", "UPHENO:0002536", - "HP:0011804", - "BFO:0000004", - "UBERON:0010000", + "UBERON:0000383", + "UBERON:0001015", "BFO:0000002", - "HP:0003011", - "UPHENO:0002816", - "UBERON:0000061", - "HP:0000001", - "HP:0001324", - "HP:0000118", + "UPHENO:0001005", "UPHENO:0001002", + "BFO:0000040", + "UBERON:0001062", + "UBERON:0010000", + "UBERON:0001630", + "UPHENO:0075696", "BFO:0000020", + "BFO:0000004", + "HP:0001324", + "HP:0033127", + "UPHENO:0001003", "UPHENO:0002320", - "UPHENO:0080555", - "UBERON:0000383", - "UBERON:0001015", - "UPHENO:0075696", - "BFO:0000001", - "UBERON:0001630", - "BFO:0000001", - "UPHENO:0082875", + "HP:0003701", "UPHENO:0080556", - "PATO:0000001", - "UBERON:0000062", - "UPHENO:0001001", - "UPHENO:0001005", - "UPHENO:0002332", - "BFO:0000002", "UBERON:0000465", ], "object_closure_label": [ - "decreased muscle organ strength", - "multicellular organism", - "organ system subdivision", + "phenotype", + "abnormal musculature", "abnormality of muscle organ physiology", + "multicellular anatomical structure", + "muscle organ", + "Abnormality of the musculature", + "independent continuant", + "All", + "entity", "abnormal phenotype by ontology source", - "quality", - "material entity", - "anatomical entity", - "musculature of body", - "musculature", - "abnormality of anatomical entity physiology", + "Phenotypic abnormality", "Abnormal muscle physiology", - "anatomical system", - "muscle structure", - "Proximal muscle weakness", + "abnormal anatomical entity", + "specifically dependent continuant", "continuant", - "multicellular anatomical structure", + "abnormality of anatomical entity physiology", + "continuant", + "decreased anatomical entity strength", "abnormal anatomical entity", + "multicellular organism", + "organ system subdivision", + "abnormality of anatomical entity physiology", + "material entity", + "anatomical entity", "Muscle weakness", - "Abnormality of the musculature", - "abnormal musculature", - "abnormal anatomical entity", - "Phenotypic abnormality", "Abnormality of the musculoskeletal system", "phenotype by ontology source", - "entity", - "independent continuant", - "All", + "organ", + "musculature of body", + "musculature", + "quality", "Phenotypic abnormality", - "abnormality of anatomical entity physiology", + "decreased muscle organ strength", + "anatomical structure", + "Proximal muscle weakness", "material anatomical entity", - "muscle organ", - "specifically dependent continuant", "entity", - "anatomical structure", - "decreased anatomical entity strength", - "organ", - "phenotype", - "continuant", + "anatomical system", + "muscle structure", ], "evidence_count": 3, "grouping_key": "MONDO:0009676||biolink:has_phenotype|HP:0003701", @@ -461,7 +627,7 @@ def association_table_response(): "has_percentage_sortable_float": [100.0], }, { - "id": "uuid:2c1c7500-25e0-11ef-abb5-e629eea977bb", + "id": "uuid:093061ab-38d8-11ef-8dc1-0579903a0a12", "original_subject": "OMIM:608099", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", @@ -482,194 +648,248 @@ def association_table_response(): "subject_category": "biolink:Disease", "subject_namespace": "MONDO", "subject_closure": [ + "MONDO:0020121", "MONDO:0004995", "MONDO:0016140", - "MONDO:0700223", - "MONDO:0016106", - "MONDO:0002081", - "MONDO:0016141", - "MONDO:0003847", - "MONDO:0003939", "BFO:0000017", + "OGMS:0000031", + "MONDO:0005021", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0005071", "MONDO:0005267", - "MONDO:0005217", - "MONDO:0700096", - "MONDO:0000591", + "MONDO:0011968", + "MONDO:0100546", "MONDO:0004994", - "MONDO:0020121", "MONDO:0016333", + "MONDO:0000001", + "MONDO:0016106", + "MONDO:0000591", + "BFO:0000002", + "MONDO:0005217", + "MONDO:0015152", "MONDO:0000429", - "MONDO:0016971", - "MONDO:0006025", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", "MONDO:0005336", - "MONDO:0100545", - "MONDO:0005021", - "BFO:0000001", "BFO:0000020", - "MONDO:0015152", - "BFO:0000002", - "BFO:0000016", - "MONDO:0000001", - "MONDO:0011968", - "MONDO:0100546", + "MONDO:0006025", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0016141", + "MONDO:0003847", + "MONDO:0016971", "MONDO:0100547", "MONDO:0016139", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0700096", + "BFO:0000001", ], "subject_closure_label": [ "autosomal recessive limb-girdle muscular dystrophy type 2D", "hereditary neuromuscular disease", - "cardiogenetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", + "limb-girdle muscular dystrophy", + "disposition", "hereditary disease", + "nervous system disorder", + "heart disorder", + "continuant", "muscle tissue disorder", - "limb-girdle muscular dystrophy", - "realizable entity", - "human disease", - "intrinsic cardiomyopathy", - "disease", - "disease", "muscular dystrophy", - "autosomal genetic disease", - "progressive muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "continuant", - "familial cardiomyopathy", - "entity", - "musculoskeletal system disorder", - "qualitative or quantitative defects of alpha-sarcoglycan", - "cardiomyopathy", - "specifically dependent continuant", - "skeletal muscle disorder", - "neuromuscular disease", "cardiovascular disorder", "sarcoglycanopathy", - "hereditary skeletal muscle disorder", - "familial dilated cardiomyopathy", + "familial cardiomyopathy", + "disease", "dilated cardiomyopathy", + "cardiomyopathy", + "hereditary skeletal muscle disorder", + "intrinsic cardiomyopathy", "autosomal recessive disease", - "nervous system disorder", - "heart disorder", - "disposition", - "autosomal recessive limb-girdle muscular dystrophy", - ], + "skeletal muscle disorder", + "neuromuscular disease", + "specifically dependent continuant", + "progressive muscular dystrophy", + "autosomal recessive limb-girdle muscular dystrophy", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "qualitative or quantitative defects of alpha-sarcoglycan", + "realizable entity", + "familial dilated cardiomyopathy", + "autosomal genetic disease", + "cardiogenetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "entity", + "myopathy", + ], "object_label": "Calf muscle hypertrophy", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "HP:0008981", "UPHENO:0065599", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0002647", - "BFO:0000001", - "BFO:0000040", - "UBERON:0001062", - "UBERON:0005090", - "UBERON:0018254", - "UBERON:0011216", - "UBERON:0014892", - "UPHENO:0075777", - "UPHENO:0002536", - "UPHENO:0076710", - "UPHENO:0084489", - "UBERON:0010000", - "UBERON:0000467", - "UBERON:0010709", - "UBERON:0006058", + "UPHENO:0015280", + "UPHENO:0076692", "BFO:0000002", - "HP:0003011", - "UPHENO:0002816", - "UPHENO:0020584", - "HP:0008968", + "HP:0002814", "BFO:0000002", - "UBERON:0000061", - "UBERON:0002103", - "UBERON:0010538", - "UBERON:0007271", - "UBERON:0014792", + "BFO:0000001", + "RO:0002577", + "PR:000050567", + "UBERON:0014892", + "UBERON:0004466", "UBERON:0003823", "UBERON:0004256", "UBERON:0006067", + "UPHENO:0002816", + "UBERON:0000026", "HP:0000001", "UPHENO:0002644", "HP:0000118", + "UBERON:0000475", + "UBERON:0000062", + "UPHENO:0084489", + "UBERON:0000467", + "UBERON:0005090", + "UBERON:0018254", + "UPHENO:0075952", + "HP:0030236", + "UPHENO:0084715", "BFO:0000001", - "UPHENO:0002830", - "UBERON:0002101", - "UBERON:0004709", - "UPHENO:0084535", - "HP:0011805", - "HP:0003712", - "UPHENO:0001002", - "BFO:0000020", - "UBERON:0004466", - "HP:0002814", - "HP:0001430", - "UPHENO:0001072", - "UPHENO:0003070", + "UBERON:0000061", + "UBERON:0000468", + "UBERON:0011216", + "UPHENO:0001001", + "HP:0008981", + "HP:0003011", + "HP:0001437", + "UPHENO:0002536", + "HP:0040064", "UBERON:0000383", "UBERON:0001015", "UBERON:0010890", "UBERON:0003661", - "UBERON:0008784", - "UBERON:0002471", - "UBERON:0004482", - "UBERON:0001383", - "HP:0002981", + "UPHENO:0084535", + "UPHENO:0075777", + "HP:0011805", + "HP:0003712", + "UPHENO:0002647", + "UBERON:0002103", + "UPHENO:0001002", + "UPHENO:0076710", + "UBERON:0001062", + "UBERON:0010538", + "UBERON:0007271", + "UBERON:0014792", + "UPHENO:0001005", + "HP:0009127", "UPHENO:0084763", - "UPHENO:0075195", - "HP:0030236", - "UPHENO:0084715", - "UPHENO:0084767", - "HP:0040064", - "PR:000050567", - "UBERON:0001630", - "UBERON:0010758", - "UPHENO:0075696", - "UPHENO:0075952", - "BFO:0000004", - "UBERON:0004708", - "UBERON:0010707", + "BFO:0000020", + "UPHENO:0020584", + "HP:0008968", "UBERON:0000978", "UBERON:0002529", "UBERON:0007270", "UBERON:0004480", "UBERON:0014795", "UBERON:0003663", - "UPHENO:0015280", - "UPHENO:0076692", + "UPHENO:0084767", + "BFO:0000040", + "UBERON:0010000", + "UBERON:0001630", + "HP:0002981", + "UBERON:0015212", + "UBERON:0010709", + "UBERON:0006058", + "HP:0001430", + "UPHENO:0001072", + "HP:0033127", + "UPHENO:0001003", "PATO:0000001", - "UBERON:0000475", - "UBERON:0000062", - "UBERON:0000468", - "UBERON:0000026", + "UPHENO:0002830", + "UBERON:0004708", + "UBERON:0010707", "UBERON:0000154", - "UPHENO:0001001", - "UPHENO:0001005", - "HP:0009127", - "HP:0001437", + "UBERON:0010758", + "UBERON:0008784", + "UBERON:0002471", + "UBERON:0004482", + "UBERON:0001383", + "UPHENO:0075696", + "UPHENO:0075195", + "UPHENO:0003070", + "BFO:0000004", + "UBERON:0002101", + "UBERON:0004709", "UBERON:0000465", - "RO:0002577", - "UBERON:0015212", ], "object_closure_label": [ - "abnormal hindlimb zeugopod", + "Abnormality of the lower limb", + "abnormal musculature", + "Abnormality of the musculature of the lower limbs", + "skeletal muscle organ, vertebrate", + "musculature of leg", + "hindlimb zeugopod", + "hindlimb zeugopod muscle", + "musculature of hindlimb zeugopod", + "abnormal hindlimb zeugopod muscle", + "Abnormal skeletal muscle morphology", + "Skeletal muscle hypertrophy", + "abnormal leg", + "material entity", + "multicellular anatomical structure", "abnormal anatomical entity morphology in the independent continuant", "abnormal musculature of limb", - "organ system subdivision", - "Abnormality of the lower limb", + "continuant", + "muscle organ", + "increased size of the anatomical entity in independent continuant", + "Abnormality of the musculature", + "abnormal anatomical entity morphology", + "appendage", + "All", + "abnormal musculature of lower limb", + "abnormal anatomical entity morphology in the pelvic complex", + "entity", + "Phenotypic abnormality", + "hypertrophic multicellular anatomical structure", + "limb", + "pelvic appendage", + "multi-limb segment region", + "Abnormality of the calf", + "paired limb/fin", + "posterior region of body", + "subdivision of organism along appendicular axis", + "abnormal hindlimb zeugopod", + "continuant", + "hindlimb", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "Muscle hypertrophy of the lower extremities", + "lateral structure", + "pelvic complex muscle", + "limb muscle", "abnormal phenotype by ontology source", "Abnormality of the musculature of the limbs", - "abnormal anatomical entity morphology", - "quality", - "material entity", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal anatomical entity", + "Abnormality of limbs", + "system", + "protein-containing material entity", + "multicellular organism", + "organ system subdivision", + "Abnormality of muscle size", + "abnormally increased volume of anatomical entity", "anatomical entity", - "lateral structure", + "phenotype", + "Calf muscle hypertrophy", + "Abnormality of the calf musculature", + "increased size of the anatomical entity", + "Abnormality of the musculoskeletal system", + "phenotype by ontology source", + "quality", + "abnormal limb", + "organism subdivision", + "organ", "musculature of body", "musculature", "leg", @@ -678,81 +898,27 @@ def association_table_response(): "musculature of limb", "pelvic appendage muscle", "hindlimb muscle", - "Abnormality of the calf musculature", - "abnormal size of anatomical entity", - "Abnormality of the musculature of the lower limbs", - "hypertrophic multicellular anatomical structure", - "protein-containing material entity", - "muscle structure", - "skeletal musculature", - "appendage girdle complex", - "pelvic complex muscle", - "limb muscle", + "abnormal anatomical entity", + "pelvic complex", + "paired limb/fin segment", + "appendage musculature", + "musculature of pelvic complex", "hypertrophic pelvic complex muscle", - "abnormal hindlimb zeugopod muscle", - "increased size of the anatomical entity", - "entity", - "multicellular anatomical structure", - "anatomical system", + "Phenotypic abnormality", + "anatomical structure", + "appendage girdle complex", "lower limb segment", "zeugopod", "musculature of lower limb", "muscle of leg", - "Abnormality of the calf", - "Abnormality of the musculature", - "abnormal musculature", - "abnormal anatomical entity", - "independent continuant", - "anatomical structure", - "pelvic complex", - "abnormal anatomical entity", - "Abnormal skeletal muscle morphology", - "Skeletal muscle hypertrophy", - "Phenotypic abnormality", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", "abnormal muscle organ morphology", - "paired limb/fin segment", - "appendage musculature", - "musculature of pelvic complex", - "hindlimb zeugopod", - "hindlimb zeugopod muscle", - "musculature of hindlimb zeugopod", - "All", - "abnormal musculature of lower limb", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Phenotypic abnormality", - "abnormal anatomical entity morphology", - "Muscle hypertrophy of the lower extremities", "material anatomical entity", - "system", - "muscle organ", - "appendage", - "posterior region of body", - "increased size of the anatomical entity in independent continuant", - "specifically dependent continuant", - "abnormal leg", - "abnormal limb", - "multi-limb segment region", - "musculature of leg", - "Calf muscle hypertrophy", + "abnormal size of anatomical entity", "entity", - "limb", - "pelvic appendage", - "organism subdivision", - "organ", - "multicellular organism", - "skeletal muscle organ, vertebrate", - "phenotype", - "continuant", - "Abnormality of muscle size", - "abnormally increased volume of anatomical entity", - "abnormal anatomical entity morphology in the pelvic complex", - "Abnormality of limbs", - "continuant", - "paired limb/fin", - "hindlimb", - "subdivision of organism along appendicular axis", + "independent continuant", + "anatomical system", + "muscle structure", + "skeletal musculature", ], "evidence_count": 3, "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0008981", @@ -761,7 +927,7 @@ def association_table_response(): "has_percentage_sortable_float": [100.0], }, { - "id": "uuid:2c1c6614-25e0-11ef-abb5-e629eea977bb", + "id": "uuid:093061a4-38d8-11ef-8dc1-0579903a0a12", "original_subject": "OMIM:608099", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", @@ -782,418 +948,258 @@ def association_table_response(): "subject_category": "biolink:Disease", "subject_namespace": "MONDO", "subject_closure": [ + "MONDO:0020121", "MONDO:0004995", "MONDO:0016140", - "MONDO:0700223", - "MONDO:0016106", - "MONDO:0002081", - "MONDO:0016141", - "MONDO:0003847", - "MONDO:0003939", "BFO:0000017", + "OGMS:0000031", + "MONDO:0005021", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0005071", "MONDO:0005267", - "MONDO:0005217", - "MONDO:0700096", - "MONDO:0000591", + "MONDO:0011968", + "MONDO:0100546", "MONDO:0004994", - "MONDO:0020121", "MONDO:0016333", + "MONDO:0000001", + "MONDO:0016106", + "MONDO:0000591", + "BFO:0000002", + "MONDO:0005217", + "MONDO:0015152", "MONDO:0000429", - "MONDO:0016971", - "MONDO:0006025", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", "MONDO:0005336", - "MONDO:0100545", - "MONDO:0005021", - "BFO:0000001", "BFO:0000020", - "MONDO:0015152", - "BFO:0000002", - "BFO:0000016", - "MONDO:0000001", - "MONDO:0011968", - "MONDO:0100546", + "MONDO:0006025", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0016141", + "MONDO:0003847", + "MONDO:0016971", "MONDO:0100547", "MONDO:0016139", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0700096", + "BFO:0000001", ], "subject_closure_label": [ "autosomal recessive limb-girdle muscular dystrophy type 2D", "hereditary neuromuscular disease", - "cardiogenetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", + "limb-girdle muscular dystrophy", + "disposition", "hereditary disease", + "nervous system disorder", + "heart disorder", + "continuant", "muscle tissue disorder", - "limb-girdle muscular dystrophy", - "realizable entity", - "human disease", - "intrinsic cardiomyopathy", - "disease", - "disease", "muscular dystrophy", - "autosomal genetic disease", - "progressive muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "continuant", - "familial cardiomyopathy", - "entity", - "musculoskeletal system disorder", - "qualitative or quantitative defects of alpha-sarcoglycan", - "cardiomyopathy", - "specifically dependent continuant", - "skeletal muscle disorder", - "neuromuscular disease", "cardiovascular disorder", "sarcoglycanopathy", - "hereditary skeletal muscle disorder", - "familial dilated cardiomyopathy", + "familial cardiomyopathy", + "disease", "dilated cardiomyopathy", + "cardiomyopathy", + "hereditary skeletal muscle disorder", + "intrinsic cardiomyopathy", "autosomal recessive disease", - "nervous system disorder", - "heart disorder", - "disposition", + "skeletal muscle disorder", + "neuromuscular disease", + "specifically dependent continuant", + "progressive muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "qualitative or quantitative defects of alpha-sarcoglycan", + "realizable entity", + "familial dilated cardiomyopathy", + "autosomal genetic disease", + "cardiogenetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "entity", + "myopathy", ], "object_label": "Elevated circulating creatine kinase concentration", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "UPHENO:0051763", - "HP:0040081", - "UPHENO:0001003", - "BFO:0000040", - "CHEBI:33579", - "UBERON:0000468", + "UPHENO:0077821", "CHEBI:33302", "CHEBI:33304", - "GO:0002185", - "CHEBI:16541", - "HP:0001871", - "UPHENO:0077821", - "UPHENO:0002536", - "HP:0032180", - "HP:0033405", - "HP:0003236", - "BFO:0000015", - "BFO:0000004", - "UBERON:0010000", - "UBERON:0000467", - "GO:0061695", - "CHEBI:15841", "BFO:0000002", - "UPHENO:0046284", + "PR:000050567", + "CHEBI:33582", + "CHEBI:16670", + "HP:0000001", + "HP:0011021", + "HP:0000118", + "UPHENO:0001003", + "UBERON:0000178", + "HP:0004364", "HP:0010876", + "HP:0003236", + "GO:0008152", + "UBERON:0000467", + "CHEBI:33579", + "UPHENO:0051668", "GO:0032991", "CHEBI:23367", - "UBERON:0000061", - "UBERON:0000463", + "UBERON:0000468", + "UPHENO:0001001", + "UPHENO:0046284", + "BFO:0000001", + "HP:0001871", + "UPHENO:0002536", + "CHEBI:50860", + "HP:0430071", + "UPHENO:0004459", + "BFO:0000003", + "BFO:0000002", "UBERON:0002390", "UBERON:0000179", - "CHEBI:33582", - "CHEBI:51143", - "CHEBI:25806", - "CHEBI:36962", - "HP:0000001", - "HP:0011021", + "GO:0002185", + "CHEBI:16541", "UPHENO:0001002", - "HP:0000118", - "HP:0001939", - "UPHENO:0051612", - "UPHENO:0051804", - "UBERON:0004120", - "UBERON:0006314", - "HP:0430071", - "BFO:0000020", "UPHENO:0081547", "UPHENO:0077826", + "HP:0032180", + "HP:0033405", "UBERON:0001062", - "CHEBI:16670", - "UPHENO:0076286", - "GO:0008152", - "CHEBI:50860", - "CHEBI:50047", - "CHEBI:37622", - "CHEBI:33256", - "UPHENO:0076289", - "BFO:0000001", - "GO:0008150", - "CHEBI:33675", - "UBERON:0002193", - "UPHENO:0051668", - "UPHENO:0004459", - "BFO:0000001", - "UBERON:0000178", - "GO:1990234", - "CHEBI:33839", + "CHEBI:51143", + "CHEBI:25806", + "CHEBI:36962", + "UPHENO:0001005", + "BFO:0000020", "CHEBI:35352", "CHEBI:32988", "CHEBI:36963", "CHEBI:33285", - "HP:0004364", - "UPHENO:0051801", - "PATO:0000001", - "UPHENO:0001001", - "UPHENO:0001005", - "BFO:0000003", - "BFO:0000002", - "GO:0005575", - "CHEBI:24431", - "UBERON:0000465", - "PR:000050567", - "GO:1902494", - "CHEBI:36357", - ], + "UPHENO:0051763", + "UPHENO:0051804", + "GO:0008150", + "BFO:0000040", + "UBERON:0010000", + "CHEBI:33675", + "UBERON:0002193", + "UPHENO:0076289", + "HP:0001939", + "BFO:0000001", + "BFO:0000015", + "BFO:0000004", + "GO:1902494", + "CHEBI:36357", + "GO:0061695", + "CHEBI:15841", + "UPHENO:0076286", + "HP:0040081", + "PATO:0000001", + "UPHENO:0051612", + "UBERON:0000061", + "UBERON:0000463", + "GO:1990234", + "CHEBI:33839", + "CHEBI:50047", + "CHEBI:37622", + "CHEBI:33256", + "UBERON:0004120", + "UBERON:0006314", + "UPHENO:0051801", + "GO:0005575", + "CHEBI:24431", + "UBERON:0000465", + ], "object_closure_label": [ - "abnormal independent continuant chemical entity level", - "abnormal independent continuant protein polypeptide chain level", - "multicellular organism", - "abnormal phenotype by ontology source", - "Abnormality of blood and blood-forming tissues", - "abnormal independent continuant nitrogen molecular entity level", - "Abnormal circulating protein concentration", - "quality", + "entity", + "carbon group molecular entity", + "peptide", + "abnormal hematopoietic system", + "biological_process", "material entity", - "catalytic complex", - "polyatomic entity", + "multicellular anatomical structure", "creatine kinase complex", "protein polypeptide chain", - "organonitrogen compound", - "amide", - "organooxygen compound", - "heteroorganic entity", - "Abnormal circulating nitrogen compound concentration", - "Elevated circulating creatine kinase concentration", - "main group molecular entity", - "macromolecule", - "transferase complex", - "organic molecular entity", - "Abnormal circulating organic compound concentration", - "abnormal role blood level", - "abnormal role bodily fluid level", - "abnormal blood nitrogen molecular entity level", - "occurrent", - "continuant", - "multicellular anatomical structure", - "anatomical system", - "organic amino compound", - "carboxamide", - "primary amide", - "abnormal role independent continuant level", - "Phenotypic abnormality", + "p-block molecular entity", + "hemolymphoid system", "abnormal chemical entity level", - "abnormal anatomical entity", - "anatomical structure", - "organism substance", - "transferase complex, transferring phosphorus-containing groups", - "polypeptide", - "Abnormal circulating creatine kinase concentration", - "phenotype by ontology source", - "Abnormal circulating metabolite concentration", - "Abnormal circulating organic amino compound concentration", - "entity", "process", "independent continuant", - "nitrogen molecular entity", - "oxygen molecular entity", - "organochalcogen compound", "All", "Abnormality of circulating enzyme level", + "pnictogen molecular entity", + "chalcogen molecular entity", "Phenotypic abnormality", - "cellular_component", - "chemical entity", - "material anatomical entity", - "protein-containing material entity", - "p-block molecular entity", - "hemolymphoid system", - "abnormal multicellular organism chemical entity level", - "specifically dependent continuant", - "entity", - "abnormal blood protein polypeptide chain level", - "abnormal blood chemical entity level", - "protein-containing complex", - "molecular entity", - "carbon group molecular entity", - "peptide", - "Abnormality of metabolism/homeostasis", - "biological_process", + "Abnormal circulating protein concentration", + "Elevated circulating creatine kinase concentration", "metabolic process", "mesoderm-derived structure", "bodily fluid", - "pnictogen molecular entity", - "chalcogen molecular entity", - "phenotype", + "abnormal role independent continuant level", + "abnormal blood chemical entity level", + "anatomical structure", + "organism substance", + "abnormal independent continuant chemical entity level", + "continuant", + "entity", + "occurrent", "continuant", - "abnormal hematopoietic system", - "anatomical entity", - "blood", "hematopoietic system", "haemolymphatic fluid", - ], - "evidence_count": 3, - "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0003236", - "frequency_computed_sortable_float": [1.0], - "has_quotient_sortable_float": [1.0], - "has_percentage_sortable_float": [100.0], - }, - { - "id": "uuid:2e2c0c2a-25e0-11ef-abb5-e629eea977bb", - "original_subject": "OMIM:613205", - "predicate": "biolink:has_phenotype", - "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:hpo-annotations", - "publications": ["PMID:15148145", "PMID:18551513"], - "provided_by": "hpoa_disease_to_phenotype_edges", - "has_evidence": ["ECO:0000269"], - "has_count": 21, - "has_percentage": 100.0, - "has_quotient": 1.0, - "has_total": 21, - "subject": "MONDO:0013178", - "object": "HP:0001252", - "subject_label": "congenital muscular dystrophy due to LMNA mutation", - "subject_category": "biolink:Disease", - "subject_namespace": "MONDO", - "subject_closure": [ - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", - "BFO:0000017", - "MONDO:0005071", - "MONDO:0700096", - "MONDO:0020121", - "BFO:0000001", - "MONDO:0019950", - "BFO:0000020", - "MONDO:0005336", - "MONDO:0100545", - "MONDO:0013178", - "MONDO:0002320", - "BFO:0000002", - "BFO:0000016", - "MONDO:0000001", - "MONDO:0100546", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", - ], - "subject_closure_label": [ - "hereditary neuromuscular disease", - "hereditary disease", - "muscle tissue disorder", - "realizable entity", - "human disease", - "disease", - "disease", - "muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "continuant", - "musculoskeletal system disorder", - "skeletal muscle disorder", - "neuromuscular disease", - "hereditary skeletal muscle disorder", "specifically dependent continuant", - "congenital muscular dystrophy", - "entity", - "nervous system disorder", - "disposition", - "congenital muscular dystrophy due to LMNA mutation", - "congenital nervous system disorder", - ], - "object_label": "Hypotonia", - "object_category": "biolink:PhenotypicFeature", - "object_namespace": "HP", - "object_closure": [ - "UPHENO:0001001", - "HP:0003808", - "HP:0033127", - "BFO:0000040", - "UBERON:0005090", - "UBERON:0000468", - "UBERON:0011216", - "UPHENO:0002536", - "HP:0011804", - "UBERON:0010000", - "UBERON:0000467", - "UPHENO:0082555", - "HP:0003011", - "UPHENO:0002816", - "UBERON:0000061", - "HP:0000001", - "HP:0000118", - "UPHENO:0001003", - "UPHENO:0001002", - "BFO:0000020", - "UBERON:0001062", - "UPHENO:0002320", - "UBERON:0000383", - "UBERON:0001015", - "UPHENO:0075696", - "BFO:0000001", - "UBERON:0001630", - "BFO:0000002", - "UPHENO:0082557", - "BFO:0000001", - "BFO:0000004", - "UPHENO:0082875", - "PATO:0000001", - "UBERON:0000062", - "UPHENO:0001005", - "UPHENO:0002332", - "HP:0001252", - "BFO:0000002", - "UBERON:0000465", - ], - "object_closure_label": [ - "multicellular organism", - "organ system subdivision", - "abnormality of muscle organ physiology", + "catalytic complex", + "polyatomic entity", + "organic molecular entity", "abnormal phenotype by ontology source", - "quality", - "material entity", - "musculature of body", - "musculature", - "abnormality of anatomical entity physiology", - "Abnormal muscle physiology", - "muscle structure", - "continuant", - "multicellular anatomical structure", - "anatomical system", - "abnormal anatomical entity", - "continuant", - "Abnormality of the musculature", - "abnormal musculature", "abnormal anatomical entity", - "independent continuant", - "anatomical structure", - "Phenotypic abnormality", - "Abnormality of the musculoskeletal system", - "entity", - "All", + "protein-containing material entity", + "multicellular organism", + "Abnormal circulating nitrogen compound concentration", + "Abnormality of blood and blood-forming tissues", + "anatomical entity", + "phenotype", + "abnormal role blood level", + "Abnormal circulating creatine kinase concentration", + "quality", + "abnormal blood protein polypeptide chain level", + "blood", + "organonitrogen compound", + "amide", + "organooxygen compound", + "heteroorganic entity", + "abnormal independent continuant nitrogen molecular entity level", + "phenotype by ontology source", + "transferase complex, transferring phosphorus-containing groups", + "polypeptide", + "nitrogen molecular entity", + "oxygen molecular entity", + "organochalcogen compound", + "Abnormal circulating organic compound concentration", "Phenotypic abnormality", - "abnormality of anatomical entity physiology", - "Hypotonia", + "abnormal independent continuant protein polypeptide chain level", + "protein-containing complex", + "molecular entity", + "transferase complex", + "macromolecule", + "carboxamide", + "organic amino compound", + "primary amide", + "abnormal role bodily fluid level", + "abnormal blood nitrogen molecular entity level", + "Abnormal circulating metabolite concentration", + "Abnormal circulating organic amino compound concentration", + "cellular_component", + "chemical entity", "material anatomical entity", - "muscle organ", - "Abnormal muscle tone", - "specifically dependent continuant", - "phenotype by ontology source", - "decreased muscle organ tone", - "entity", - "phenotype", - "organ", - "decreased anatomical entity tone", - "anatomical entity", + "abnormal multicellular organism chemical entity level", + "Abnormality of metabolism/homeostasis", + "anatomical system", + "main group molecular entity", ], "evidence_count": 3, - "grouping_key": "MONDO:0013178||biolink:has_phenotype|HP:0001252", + "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0003236", "frequency_computed_sortable_float": [1.0], "has_quotient_sortable_float": [1.0], "has_percentage_sortable_float": [100.0], diff --git a/backend/tests/fixtures/associations.py b/backend/tests/fixtures/associations.py index b081d2770..b83629827 100644 --- a/backend/tests/fixtures/associations.py +++ b/backend/tests/fixtures/associations.py @@ -6,143 +6,85 @@ def associations(): return { "limit": 20, "offset": 0, - "total": 4944, + "total": 4965, "items": [ { - "id": "uuid:95070ff6-25dd-11ef-abb5-e629eea977bb", - "category": "biolink:ChemicalToDiseaseOrPhenotypicFeatureAssociation", - "subject": "CHEBI:27881", - "original_subject": "MESH:D000077185", - "subject_namespace": "CHEBI", - "subject_category": "biolink:MolecularEntity", - "subject_closure": [ - "CHEBI:78840", - "CHEBI:33608", - "CHEBI:33572", - "CHEBI:37577", - "CHEBI:23367", - "CHEBI:50860", - "CHEBI:25806", - "CHEBI:72695", - "CHEBI:26776", - "CHEBI:36357", - "CHEBI:33675", - "CHEBI:33822", - "CHEBI:24431", - "CHEBI:33674", - "BFO:0000004", - "CHEBI:36027", - "CHEBI:33595", - "CHEBI:33832", - "CHEBI:24651", - "CHEBI:33853", - "CHEBI:25367", - "BFO:0000001", - "BFO:0000040", - "CHEBI:27881", - "CHEBI:33659", - "CHEBI:26195", - "BFO:0000002", - "CHEBI:33570", - "CHEBI:33304", - "CHEBI:33582", - "CHEBI:33655", - "CHEBI:33579", - ], - "subject_label": "resveratrol", - "subject_closure_label": [ - "benzenediols", - "chalcogen molecular entity", - "carbon group molecular entity", - "resorcinols", - "stilbenoid", - "p-block molecular entity", - "organic hydroxy compound", - "resveratrol", - "phenols", - "molecule", - "continuant", - "organic molecule", - "molecular entity", - "entity", - "chemical entity", - "aromatic compound", - "polyatomic entity", - "olefinic compound", - "hydrogen molecular entity", - "stilbenol", - "cyclic compound", - "organic cyclic compound", - "heteroatomic molecular entity", - "material entity", - "hydroxides", - "organic aromatic compound", - "s-block molecular entity", - "independent continuant", - "main group molecular entity", - "organic molecular entity", - "oxygen molecular entity", - "polyphenol", - ], - "subject_taxon": None, - "subject_taxon_label": None, - "predicate": "biolink:treats_or_applied_or_studied_to_treat", - "object": "MONDO:0010679", - "original_object": "MESH:D020388", + "id": "uuid:4dc189ff-38d8-11ef-8dc1-0579903a0a12", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:26267", + "original_subject": "NCBIGene:84197", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "POMK", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0014101", + "original_object": "OMIM:615249", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", - "BFO:0000017", - "MONDO:0005071", - "MONDO:0700096", "MONDO:0020121", - "BFO:0000001", - "MONDO:0005336", - "MONDO:0100545", - "BFO:0000020", - "BFO:0000002", - "BFO:0000016", - "MONDO:0000001", - "MONDO:0010679", - "MONDO:0100546", + "BFO:0000017", "OGMS:0000031", "MONDO:0020120", "MONDO:0019056", + "MONDO:0005071", + "MONDO:0100546", + "MONDO:0000001", + "BFO:0000002", + "MONDO:0018276", + "MONDO:0000171", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "MONDO:0014101", + "MONDO:0002320", + "BFO:0000001", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0019950", + "MONDO:0003847", + "MONDO:0700096", ], - "object_label": "Duchenne muscular dystrophy", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", "object_closure_label": [ "hereditary neuromuscular disease", + "disposition", "hereditary disease", + "nervous system disorder", + "continuant", "muscle tissue disorder", - "realizable entity", - "human disease", - "disease", - "disease", - "Duchenne muscular dystrophy", "muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "continuant", - "musculoskeletal system disorder", - "specifically dependent continuant", + "disease", + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", + "hereditary skeletal muscle disorder", "skeletal muscle disorder", "neuromuscular disease", - "hereditary skeletal muscle disorder", + "congenital nervous system disorder", "entity", - "nervous system disorder", - "disposition", + "muscular dystrophy-dystroglycanopathy", + "specifically dependent continuant", + "disease", + "muscular dystrophy-dystroglycanopathy, type A", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital muscular dystrophy", + "realizable entity", + "human disease", + "myopathy", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:ctd", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, - "evidence_count": 1, + "evidence_count": 0, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", "has_evidence": [], @@ -151,14 +93,14 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "CHEBI:27881||biolink:treats_or_applied_or_studied_to_treat|MONDO:0010679", - "provided_by": "ctd_chemical_to_disease_edges", + "grouping_key": "HGNC:26267||biolink:causes|MONDO:0014101", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "ctd_chemical_to_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/ctd/#chemical_to_disease", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, - "publications": ["PMID:26930420"], - "publications_links": [{"id": "PMID:26930420", "url": "http://identifiers.org/pubmed/26930420"}], + "publications": [], + "publications_links": [], "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, @@ -197,132 +139,106 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:9649ee06-25dd-11ef-abb5-e629eea977bb", - "category": "biolink:ChemicalToDiseaseOrPhenotypicFeatureAssociation", - "subject": "CHEBI:15891", - "original_subject": "MESH:D013654", - "subject_namespace": "CHEBI", - "subject_category": "biolink:MolecularEntity", - "subject_closure": [ - "CHEBI:15891", - "CHEBI:33241", - "CHEBI:35352", - "CHEBI:37577", - "CHEBI:26835", - "CHEBI:33302", - "CHEBI:23367", - "CHEBI:64709", - "CHEBI:50860", - "CHEBI:33285", - "CHEBI:36357", - "CHEBI:33675", - "CHEBI:33582", - "CHEBI:24431", - "CHEBI:51143", - "BFO:0000004", - "BFO:0000001", - "CHEBI:33261", - "CHEBI:36962", - "BFO:0000040", - "CHEBI:33552", - "CHEBI:50047", - "BFO:0000002", - "CHEBI:33424", - "CHEBI:37793", - "CHEBI:33304", - "CHEBI:33551", - "CHEBI:33579", - ], - "subject_label": "taurine", - "subject_closure_label": [ - "chalcogen molecular entity", - "organonitrogen compound", - "organosulfonic acid", - "amino sulfonic acid", - "p-block molecular entity", - "organochalcogen compound", - "organic acid", - "organosulfur compound", - "continuant", - "heteroorganic entity", - "molecular entity", - "carbon group molecular entity", - "chemical entity", - "nitrogen molecular entity", - "oxoacid derivative", - "polyatomic entity", - "taurine", - "heteroatomic molecular entity", - "sulfur molecular entity", - "pnictogen molecular entity", - "material entity", - "sulfonic acid derivative", - "independent continuant", - "entity", - "main group molecular entity", - "organic molecular entity", - "sulfur oxoacid derivative", - "organic amino compound", - ], - "subject_taxon": None, - "subject_taxon_label": None, - "predicate": "biolink:treats_or_applied_or_studied_to_treat", - "object": "MONDO:0010679", - "original_object": "MESH:D020388", + "id": "uuid:4dc18a55-38d8-11ef-8dc1-0579903a0a12", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:10805", + "original_subject": "NCBIGene:6442", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "SGCA", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0011968", + "original_object": "OMIM:608099", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ + "MONDO:0020121", + "MONDO:0004995", + "MONDO:0016140", + "BFO:0000017", + "OGMS:0000031", + "MONDO:0005021", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0005071", + "MONDO:0005267", + "MONDO:0011968", + "MONDO:0100546", + "MONDO:0004994", + "MONDO:0016333", + "MONDO:0000001", + "MONDO:0016106", + "MONDO:0000591", + "BFO:0000002", + "MONDO:0005217", + "MONDO:0015152", + "MONDO:0000429", + "BFO:0000016", + "MONDO:0003939", "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "MONDO:0006025", + "MONDO:0100545", "MONDO:0002081", + "MONDO:0016141", "MONDO:0003847", - "MONDO:0003939", - "BFO:0000017", - "MONDO:0005071", + "MONDO:0016971", + "MONDO:0100547", + "MONDO:0016139", "MONDO:0700096", - "MONDO:0020121", "BFO:0000001", - "MONDO:0005336", - "MONDO:0100545", - "BFO:0000020", - "BFO:0000002", - "BFO:0000016", - "MONDO:0000001", - "MONDO:0010679", - "MONDO:0100546", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", ], - "object_label": "Duchenne muscular dystrophy", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", "object_closure_label": [ + "autosomal recessive limb-girdle muscular dystrophy type 2D", "hereditary neuromuscular disease", + "limb-girdle muscular dystrophy", + "disposition", "hereditary disease", + "nervous system disorder", + "heart disorder", + "continuant", "muscle tissue disorder", - "realizable entity", - "human disease", + "muscular dystrophy", + "cardiovascular disorder", + "sarcoglycanopathy", + "familial cardiomyopathy", "disease", + "dilated cardiomyopathy", + "cardiomyopathy", + "hereditary skeletal muscle disorder", + "intrinsic cardiomyopathy", + "autosomal recessive disease", + "skeletal muscle disorder", + "neuromuscular disease", + "specifically dependent continuant", + "progressive muscular dystrophy", + "autosomal recessive limb-girdle muscular dystrophy", "disease", - "Duchenne muscular dystrophy", - "muscular dystrophy", - "myopathy", "hereditary neurological disease", - "continuant", "musculoskeletal system disorder", - "specifically dependent continuant", - "skeletal muscle disorder", - "neuromuscular disease", - "hereditary skeletal muscle disorder", + "qualitative or quantitative defects of alpha-sarcoglycan", + "realizable entity", + "familial dilated cardiomyopathy", + "autosomal genetic disease", + "cardiogenetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", "entity", - "nervous system disorder", - "disposition", + "myopathy", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:ctd", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, - "evidence_count": 1, + "evidence_count": 0, "knowledge_level": "knowledge_assertion", "agent_type": "manual_agent", "has_evidence": [], @@ -331,14 +247,14 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "CHEBI:15891||biolink:treats_or_applied_or_studied_to_treat|MONDO:0010679", - "provided_by": "ctd_chemical_to_disease_edges", + "grouping_key": "HGNC:10805||biolink:causes|MONDO:0011968", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "ctd_chemical_to_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/ctd/#chemical_to_disease", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, - "publications": ["PMID:26930420"], - "publications_links": [{"id": "PMID:26930420", "url": "http://identifiers.org/pubmed/26930420"}], + "publications": [], + "publications_links": [], "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, @@ -377,99 +293,103 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "903d8dab-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:7264454", - "original_subject": None, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", + "id": "uuid:4dc18a8f-38d8-11ef-8dc1-0579903a0a12", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:9069", + "original_subject": "NCBIGene:5339", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "Large1m1Btlr/Large1m1Btlr [background:] C57BL/6J-Large1m1Btlr", + "subject_label": "PLEC", "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0013159", - "original_object": "DOID:0050588", + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0009181", + "original_object": "OMIM:226670", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0000172", - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0700070", - "MONDO:0003847", - "MONDO:0003939", - "MONDO:0045010", - "MONDO:0013159", + "MONDO:0020121", "BFO:0000017", - "MONDO:0005066", - "MONDO:0005071", + "MONDO:0019268", "BFO:0000002", - "MONDO:0700096", - "MONDO:0020121", - "MONDO:0019950", - "MONDO:0016155", - "MONDO:0018276", - "MONDO:0024322", - "BFO:0000020", - "MONDO:0017741", - "MONDO:0005336", - "MONDO:0100545", - "MONDO:0019052", - "MONDO:0015286", - "MONDO:0002320", - "BFO:0000016", + "MONDO:0020120", + "MONDO:0019056", "BFO:0000001", - "MONDO:0018282", - "MONDO:0000001", + "MONDO:0005071", "MONDO:0100546", - "MONDO:0016139", "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0002254", + "MONDO:0000001", + "MONDO:0016106", + "MONDO:0002051", + "MONDO:0100118", + "MONDO:0009181", + "MONDO:0019276", + "MONDO:0005093", + "MONDO:0006617", + "MONDO:0015152", + "MONDO:0000429", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "MONDO:0006541", + "BFO:0000020", + "MONDO:0017610", + "MONDO:0006025", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0016198", + "MONDO:0003847", + "MONDO:0016971", + "MONDO:0016139", + "MONDO:0700096", ], - "object_label": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", + "object_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", "object_closure_label": [ "hereditary neuromuscular disease", - "qualitative or quantitative protein defects in neuromuscular diseases", - "myopathy caused by variation in POMT1", + "skin disorder", + "limb-girdle muscular dystrophy", + "disposition", "hereditary disease", + "nervous system disorder", "muscle tissue disorder", - "disorder of protein O-glycosylation", - "realizable entity", - "human disease", + "muscular dystrophy", + "epidermal disease", + "hereditary skeletal muscle disorder", + "hereditary skin disorder", + "specifically dependent continuant", + "epidermolysis bullosa simplex", + "autosomal recessive disease", "disease", - "qualitative or quantitative defects of alpha-dystroglycan", + "continuant", + "skeletal muscle disorder", + "neuromuscular disease", + "progressive muscular dystrophy", + "integumentary system disorder", + "autosomal recessive limb-girdle muscular dystrophy", "disease", - "muscular dystrophy", - "metabolic disease", - "muscular dystrophy-dystroglycanopathy", - "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", - "myopathy", + "vesiculobullous skin disease", + "epidermolysis bullosa simplex 5B, with muscular dystrophy", + "inherited epidermolysis bullosa", "hereditary neurological disease", - "inborn errors of metabolism", - "disorder of glycosylation", "musculoskeletal system disorder", - "skeletal muscle disorder", - "neuromuscular disease", - "muscular dystrophy-dystroglycanopathy, type B", - "hereditary skeletal muscle disorder", - "specifically dependent continuant", + "qualitative or quantitative defects of plectin", + "realizable entity", + "syndromic disease", + "autosomal genetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "myopathy", + "epidermolysis bullosa", "entity", - "congenital muscular dystrophy", - "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan", - "glycoprotein metabolism disease", - "nervous system disorder", - "continuant", - "disposition", - "congenital disorder of glycosylation", - "congenital nervous system disorder", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mgi", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, "evidence_count": 0, @@ -481,11 +401,11 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "MGI:7264454||biolink:model_of|MONDO:0013159", - "provided_by": "alliance_disease_edges", + "grouping_key": "HGNC:9069||biolink:causes|MONDO:0009181", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, "publications": [], "publications_links": [], @@ -527,77 +447,93 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "903d8dcc-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:5565211", - "original_subject": None, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", + "id": "uuid:4dc18ac0-38d8-11ef-8dc1-0579903a0a12", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:15710", + "original_subject": "NCBIGene:11155", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "Col6a3tm2.1Chu/Col6a3+ [background:] B6.129(Cg)-Col6a3tm2.1Chu", + "subject_label": "LDB3", "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0000355", - "original_object": "DOID:0050558", + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0012277", + "original_object": "OMIM:609452", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", + "MONDO:0020121", + "MONDO:0018943", "MONDO:0019952", + "MONDO:0016190", "BFO:0000017", - "MONDO:0000355", - "MONDO:0005071", - "MONDO:0700096", - "MONDO:0020121", - "MONDO:0019950", - "BFO:0000020", - "MONDO:0005336", - "MONDO:0100545", - "BFO:0000001", - "MONDO:0002320", + "MONDO:0016186", "BFO:0000002", - "BFO:0000016", - "MONDO:0000001", - "MONDO:0100546", - "OGMS:0000031", "MONDO:0020120", "MONDO:0019056", + "MONDO:0005071", + "MONDO:0100546", + "OGMS:0000031", + "MONDO:0016108", + "MONDO:0000001", + "MONDO:0002921", + "MONDO:0000429", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "MONDO:0012277", + "MONDO:0000426", + "MONDO:0018949", + "BFO:0000020", + "MONDO:0002320", + "BFO:0000001", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0003847", + "MONDO:0016139", + "MONDO:0700096", ], - "object_label": "Ullrich congenital muscular dystrophy", + "object_label": "myofibrillar myopathy 4", "object_closure_label": [ + "qualitative or quantitative defects of myofibrillar proteins", "hereditary neuromuscular disease", + "disposition", "hereditary disease", + "nervous system disorder", "muscle tissue disorder", - "congenital myopathy", - "realizable entity", - "human disease", - "disease", - "disease", "muscular dystrophy", - "Ullrich congenital muscular dystrophy", - "myopathy", - "hereditary neurological disease", + "myofibrillar myopathy", + "autosomal dominant disease", + "hereditary skeletal muscle disorder", + "congenital structural myopathy", + "specifically dependent continuant", + "disease", + "distal myopathy", "continuant", - "entity", - "musculoskeletal system disorder", "skeletal muscle disorder", "neuromuscular disease", - "hereditary skeletal muscle disorder", - "specifically dependent continuant", - "congenital muscular dystrophy", - "nervous system disorder", - "disposition", "congenital nervous system disorder", + "entity", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital myopathy", + "qualitative or quantitative defects of protein ZASP", + "realizable entity", + "autosomal dominant distal myopathy", + "autosomal genetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "myopathy", + "myofibrillar myopathy 4", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mgi", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, "evidence_count": 0, @@ -609,11 +545,11 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "MGI:5565211||biolink:model_of|MONDO:0000355", - "provided_by": "alliance_disease_edges", + "grouping_key": "HGNC:15710||biolink:causes|MONDO:0012277", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, "publications": [], "publications_links": [], @@ -655,71 +591,93 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "903d8dd1-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:2661118", - "original_subject": None, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", + "id": "uuid:4dc18b2b-38d8-11ef-8dc1-0579903a0a12", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:6636", + "original_subject": "NCBIGene:4000", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "Dysftm1Kcam/Dysftm1Kcam [background:] involves: 129S1/Sv * 129X1/SvJ * C57BL/6", + "subject_label": "LMNA", "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0018949", - "original_object": "DOID:11720", + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0014676", + "original_object": "OMIM:616516", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", - "BFO:0000017", - "MONDO:0005071", - "MONDO:0700096", "MONDO:0020121", + "MONDO:0004995", + "BFO:0000017", + "MONDO:0005021", + "MONDO:0020120", + "MONDO:0019056", "BFO:0000001", - "BFO:0000020", - "MONDO:0005336", - "MONDO:0100545", - "BFO:0000002", - "BFO:0000016", - "MONDO:0000001", + "MONDO:0005071", + "MONDO:0005267", "MONDO:0100546", "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", - "MONDO:0018949", + "MONDO:0004994", + "BFO:0000002", + "MONDO:0016333", + "MONDO:0000001", + "MONDO:0016106", + "MONDO:0000591", + "MONDO:0014676", + "MONDO:0005217", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "MONDO:0016830", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0021106", + "MONDO:0003847", + "MONDO:0100547", + "MONDO:0700096", ], - "object_label": "distal myopathy", + "object_label": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "object_closure_label": [ "hereditary neuromuscular disease", + "disposition", + "laminopathy", "hereditary disease", + "nervous system disorder", + "heart disorder", "muscle tissue disorder", - "realizable entity", - "human disease", - "disease", - "disease", "muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "continuant", - "musculoskeletal system disorder", + "cardiovascular disorder", + "familial cardiomyopathy", + "dilated cardiomyopathy", + "cardiomyopathy", + "Emery-Dreifuss muscular dystrophy", + "hereditary skeletal muscle disorder", + "intrinsic cardiomyopathy", + "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", + "disease", "skeletal muscle disorder", "neuromuscular disease", - "hereditary skeletal muscle disorder", "specifically dependent continuant", + "progressive muscular dystrophy", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "realizable entity", + "familial dilated cardiomyopathy", + "continuant", + "cardiogenetic disease", + "human disease", + "myopathy", "entity", - "distal myopathy", - "nervous system disorder", - "disposition", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mgi", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, "evidence_count": 0, @@ -731,11 +689,11 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "MGI:2661118||biolink:model_of|MONDO:0018949", - "provided_by": "alliance_disease_edges", + "grouping_key": "HGNC:6636||biolink:causes|MONDO:0014676", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, "publications": [], "publications_links": [], @@ -777,71 +735,79 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "903d8e37-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:5779562", - "original_subject": None, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", + "id": "uuid:4dc18a2f-38d8-11ef-8dc1-0579903a0a12", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:15685", + "original_subject": "NCBIGene:11041", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "Tg(ACTA1-Ctss)1Jmol/? [background:] FVB/N-Tg(ACTA1-Ctss)1Jmol", + "subject_label": "B4GAT1", "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0010679", - "original_object": "DOID:11723", + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0014120", + "original_object": "OMIM:615287", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", + "MONDO:0020121", "BFO:0000017", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0005071", - "MONDO:0700096", - "MONDO:0020121", - "BFO:0000001", - "MONDO:0005336", - "MONDO:0100545", - "BFO:0000020", - "BFO:0000002", - "BFO:0000016", - "MONDO:0000001", - "MONDO:0010679", "MONDO:0100546", "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0000001", + "BFO:0000002", + "MONDO:0014120", + "MONDO:0018276", + "MONDO:0000171", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "MONDO:0002320", + "BFO:0000001", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0019950", + "MONDO:0003847", + "MONDO:0700096", ], - "object_label": "Duchenne muscular dystrophy", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13", "object_closure_label": [ "hereditary neuromuscular disease", + "disposition", "hereditary disease", + "nervous system disorder", + "continuant", "muscle tissue disorder", - "realizable entity", - "human disease", - "disease", - "disease", - "Duchenne muscular dystrophy", "muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "continuant", - "musculoskeletal system disorder", - "specifically dependent continuant", + "hereditary skeletal muscle disorder", + "disease", "skeletal muscle disorder", "neuromuscular disease", - "hereditary skeletal muscle disorder", + "congenital nervous system disorder", "entity", - "nervous system disorder", - "disposition", + "muscular dystrophy-dystroglycanopathy", + "specifically dependent continuant", + "disease", + "muscular dystrophy-dystroglycanopathy, type A", + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital muscular dystrophy", + "realizable entity", + "human disease", + "myopathy", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mgi", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, "evidence_count": 0, @@ -853,11 +819,11 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "MGI:5779562||biolink:model_of|MONDO:0010679", - "provided_by": "alliance_disease_edges", + "grouping_key": "HGNC:15685||biolink:causes|MONDO:0014120", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, "publications": [], "publications_links": [], @@ -899,103 +865,79 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "903d8e71-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:7278768", - "original_subject": None, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", + "id": "uuid:4dc18b47-38d8-11ef-8dc1-0579903a0a12", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2666", + "original_subject": "NCBIGene:1605", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "Sgcatm2Kcam/Sgcatm2Kcam [background:] B6.129S6-Sgcatm2Kcam/J", + "subject_label": "DAG1", "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0011968", - "original_object": "DOID:0110278", + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0014683", + "original_object": "OMIM:616538", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0004995", - "MONDO:0016140", - "MONDO:0700223", - "MONDO:0016106", - "MONDO:0002081", - "MONDO:0016141", - "MONDO:0003847", - "MONDO:0003939", - "BFO:0000017", - "MONDO:0005071", - "MONDO:0005267", - "MONDO:0005217", - "MONDO:0700096", - "MONDO:0000591", - "MONDO:0004994", "MONDO:0020121", - "MONDO:0016333", - "MONDO:0000429", - "MONDO:0016971", - "MONDO:0006025", - "MONDO:0005336", - "MONDO:0100545", - "MONDO:0005021", - "BFO:0000001", - "BFO:0000020", - "MONDO:0015152", - "BFO:0000002", - "BFO:0000016", - "MONDO:0000001", - "MONDO:0011968", - "MONDO:0100546", - "MONDO:0100547", - "MONDO:0016139", + "BFO:0000017", "OGMS:0000031", "MONDO:0020120", + "MONDO:0014683", "MONDO:0019056", - ], - "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", - "object_closure_label": [ - "autosomal recessive limb-girdle muscular dystrophy type 2D", - "hereditary neuromuscular disease", - "cardiogenetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", - "hereditary disease", - "muscle tissue disorder", - "limb-girdle muscular dystrophy", - "realizable entity", - "human disease", - "intrinsic cardiomyopathy", - "disease", - "disease", - "muscular dystrophy", - "autosomal genetic disease", - "progressive muscular dystrophy", - "myopathy", - "hereditary neurological disease", + "BFO:0000001", + "MONDO:0005071", + "MONDO:0100546", + "MONDO:0000001", + "BFO:0000002", + "MONDO:0018276", + "MONDO:0000171", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "MONDO:0002320", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0019950", + "MONDO:0003847", + "MONDO:0700096", + ], + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9", + "object_closure_label": [ + "hereditary neuromuscular disease", + "disposition", + "hereditary disease", + "nervous system disorder", "continuant", - "familial cardiomyopathy", - "entity", - "musculoskeletal system disorder", - "qualitative or quantitative defects of alpha-sarcoglycan", - "cardiomyopathy", + "muscle tissue disorder", + "muscular dystrophy", + "disease", + "hereditary skeletal muscle disorder", "specifically dependent continuant", "skeletal muscle disorder", + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9", "neuromuscular disease", - "cardiovascular disorder", - "sarcoglycanopathy", - "hereditary skeletal muscle disorder", - "familial dilated cardiomyopathy", - "dilated cardiomyopathy", - "autosomal recessive disease", - "nervous system disorder", - "heart disorder", - "disposition", - "autosomal recessive limb-girdle muscular dystrophy", + "congenital nervous system disorder", + "muscular dystrophy-dystroglycanopathy", + "disease", + "muscular dystrophy-dystroglycanopathy, type A", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital muscular dystrophy", + "realizable entity", + "human disease", + "myopathy", + "entity", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mgi", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, "evidence_count": 0, @@ -1007,11 +949,11 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "MGI:7278768||biolink:model_of|MONDO:0011968", - "provided_by": "alliance_disease_edges", + "grouping_key": "HGNC:2666||biolink:causes|MONDO:0014683", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, "publications": [], "publications_links": [], @@ -1053,81 +995,89 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "903d8eba-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:5767290", - "original_subject": None, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", + "id": "uuid:4dc18b98-38d8-11ef-8dc1-0579903a0a12", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2188", + "original_subject": "NCBIGene:1303", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "Tg(Ckm-DNAJB6_ib*F93L)#Ccwe/0 [background:] B6.Cg-Tg(Ckm-DNAJB6_ib*F93L)#Ccwe", + "subject_label": "COL12A1", "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0021018", - "original_object": "DOID:0110305", + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0034022", + "original_object": "OMIM:616471", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0700223", - "MONDO:0016106", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", - "BFO:0000017", - "MONDO:0021018", - "MONDO:0005071", - "MONDO:0700096", "MONDO:0020121", - "BFO:0000001", - "MONDO:0000429", - "BFO:0000020", - "MONDO:0000426", - "MONDO:0016971", - "MONDO:0005336", - "MONDO:0100545", - "BFO:0000002", - "BFO:0000016", - "MONDO:0000001", - "MONDO:0100546", - "MONDO:0015151", + "MONDO:0019952", + "BFO:0000017", "OGMS:0000031", "MONDO:0020120", "MONDO:0019056", + "MONDO:0005071", + "MONDO:0100546", + "MONDO:0008029", + "MONDO:0002254", + "MONDO:0000001", + "MONDO:0016106", + "BFO:0000002", + "MONDO:0019755", + "MONDO:0034022", + "MONDO:0020066", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "MONDO:0021147", + "MONDO:0002320", + "BFO:0000001", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0019950", + "MONDO:0003847", + "MONDO:0700096", ], - "object_label": "autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)", + "object_label": "Bethlem myopathy 2", "object_closure_label": [ - "autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)", "hereditary neuromuscular disease", - "muscular dystrophy, limb-girdle, autosomal dominant", + "developmental defect during embryogenesis", + "disposition", "hereditary disease", + "nervous system disorder", + "continuant", "muscle tissue disorder", - "limb-girdle muscular dystrophy", - "realizable entity", - "human disease", - "disease", - "disease", "muscular dystrophy", - "autosomal dominant disease", - "autosomal genetic disease", - "progressive muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "continuant", - "musculoskeletal system disorder", + "disease", + "Bethlem myopathy", + "disorder of development or morphogenesis", + "hereditary skeletal muscle disorder", "skeletal muscle disorder", "neuromuscular disease", - "hereditary skeletal muscle disorder", - "specifically dependent continuant", + "congenital nervous system disorder", "entity", - "nervous system disorder", - "disposition", + "Bethlem myopathy 2", + "specifically dependent continuant", + "progressive muscular dystrophy", + "Ehlers-Danlos syndrome", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital muscular dystrophy", + "congenital myopathy", + "realizable entity", + "syndromic disease", + "human disease", + "myopathy", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mgi", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, "evidence_count": 0, @@ -1139,11 +1089,11 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "MGI:5767290||biolink:model_of|MONDO:0021018", - "provided_by": "alliance_disease_edges", + "grouping_key": "HGNC:2188||biolink:causes|MONDO:0034022", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, "publications": [], "publications_links": [], @@ -1185,71 +1135,79 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "903d8ed7-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:5688354", - "original_subject": None, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", + "id": "uuid:4dc18b99-38d8-11ef-8dc1-0579903a0a12", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2188", + "original_subject": "NCBIGene:1303", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "Dmdmdx/Dmdmdx [background:] D2.B10-Dmdmdx", + "subject_label": "COL12A1", "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0010679", - "original_object": "DOID:11723", + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0014654", + "original_object": "OMIM:616470", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", - "BFO:0000017", - "MONDO:0005071", - "MONDO:0700096", "MONDO:0020121", - "BFO:0000001", - "MONDO:0005336", - "MONDO:0100545", - "BFO:0000020", - "BFO:0000002", - "BFO:0000016", - "MONDO:0000001", - "MONDO:0010679", - "MONDO:0100546", + "MONDO:0019952", + "BFO:0000017", "OGMS:0000031", "MONDO:0020120", "MONDO:0019056", + "MONDO:0005071", + "MONDO:0100546", + "MONDO:0000001", + "BFO:0000002", + "BFO:0000016", + "MONDO:0014654", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "MONDO:0002320", + "BFO:0000001", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0019950", + "MONDO:0003847", + "MONDO:0700096", + "MONDO:0000355", ], - "object_label": "Duchenne muscular dystrophy", + "object_label": "Ullrich congenital muscular dystrophy 2", "object_closure_label": [ "hereditary neuromuscular disease", + "disposition", + "Ullrich congenital muscular dystrophy 2", "hereditary disease", + "nervous system disorder", + "continuant", "muscle tissue disorder", - "realizable entity", - "human disease", - "disease", - "disease", - "Duchenne muscular dystrophy", "muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "continuant", - "musculoskeletal system disorder", + "disease", + "hereditary skeletal muscle disorder", "specifically dependent continuant", "skeletal muscle disorder", "neuromuscular disease", - "hereditary skeletal muscle disorder", + "congenital nervous system disorder", "entity", - "nervous system disorder", - "disposition", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital muscular dystrophy", + "congenital myopathy", + "realizable entity", + "human disease", + "Ullrich congenital muscular dystrophy", + "myopathy", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mgi", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, "evidence_count": 0, @@ -1261,11 +1219,11 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "MGI:5688354||biolink:model_of|MONDO:0010679", - "provided_by": "alliance_disease_edges", + "grouping_key": "HGNC:2188||biolink:causes|MONDO:0014654", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, "publications": [], "publications_links": [], @@ -1307,229 +1265,135 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "903d8ef3-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:5298009", + "id": "urn:uuid:b9924b51-6ea7-4d7c-81ed-c84aa27260aa", + "category": "biolink:Association", + "subject": "MONDO:0001347", "original_subject": None, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", - "subject_closure": [], - "subject_label": "Selenontm1.2Mred/Selenontm1.2Mred [background:] involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0011271", - "original_object": "DOID:0110633", - "object_namespace": "MONDO", - "object_category": "biolink:Disease", - "object_closure": [ - "MONDO:0018948", - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0016187", - "MONDO:0100100", - "MONDO:0003939", - "MONDO:0019952", - "BFO:0000017", - "MONDO:0005071", - "MONDO:0016197", - "MONDO:0700096", + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ "MONDO:0020121", - "MONDO:0019950", - "BFO:0000020", - "MONDO:0016186", - "MONDO:0005336", - "MONDO:0100545", - "BFO:0000001", - "MONDO:0002320", - "BFO:0000002", - "BFO:0000016", - "MONDO:0000001", - "MONDO:0100546", - "MONDO:0019951", - "MONDO:0016139", + "BFO:0000017", "OGMS:0000031", "MONDO:0020120", - "MONDO:0011271", "MONDO:0019056", + "MONDO:0005071", + "MONDO:0100137", + "MONDO:0100546", + "MONDO:0000001", + "MONDO:0016106", + "BFO:0000002", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "MONDO:0001347", + "BFO:0000020", + "MONDO:0019303", + "BFO:0000001", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0003847", + "MONDO:0700096", ], - "object_label": "rigid spine muscular dystrophy 1", - "object_closure_label": [ + "subject_label": "facioscapulohumeral muscular dystrophy", + "subject_closure_label": [ + "telomere syndrome", "hereditary neuromuscular disease", - "rigid spine syndrome", - "qualitative or quantitative protein defects in neuromuscular diseases", + "disposition", "hereditary disease", - "qualitative or quantitative defects of desmin", - "SELENON-related myopathy", + "nervous system disorder", + "continuant", "muscle tissue disorder", - "qualitative or quantitative defects of myofibrillar proteins", - "congenital myopathy", - "realizable entity", - "human disease", - "disease", - "disease", "muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "continuant", - "entity", - "musculoskeletal system disorder", + "disease", + "hereditary skeletal muscle disorder", "skeletal muscle disorder", - "rigid spine muscular dystrophy 1", "neuromuscular disease", - "multiminicore myopathy", - "hereditary skeletal muscle disorder", + "entity", "specifically dependent continuant", - "congenital muscular dystrophy", - "nervous system disorder", - "qualitative or quantitative defects of selenoprotein N1", - "disposition", - "congenital nervous system disorder", + "progressive muscular dystrophy", + "facioscapulohumeral muscular dystrophy", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "realizable entity", + "human disease", + "myopathy", + "premature aging syndrome", ], - "object_taxon": None, - "object_taxon_label": None, - "primary_knowledge_source": "infores:mgi", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"], - "negated": None, - "pathway": None, - "evidence_count": 0, - "knowledge_level": "knowledge_assertion", - "agent_type": "manual_agent", - "has_evidence": [], - "has_evidence_links": [], - "has_count": None, - "has_total": None, - "has_percentage": None, - "has_quotient": None, - "grouping_key": "MGI:5298009||biolink:model_of|MONDO:0011271", - "provided_by": "alliance_disease_edges", - "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease", - }, - "publications": [], - "publications_links": [], - "frequency_qualifier": None, - "onset_qualifier": None, - "sex_qualifier": None, - "stage_qualifier": None, - "qualifiers": [], - "qualifiers_label": None, - "qualifiers_namespace": None, - "qualifiers_category": None, - "qualifiers_closure": [], - "qualifiers_closure_label": [], - "qualifier": [], - "qualifier_label": None, - "qualifier_namespace": None, - "qualifier_category": None, - "qualifier_closure": [], - "qualifier_closure_label": [], - "frequency_qualifier_label": None, - "frequency_qualifier_namespace": None, - "frequency_qualifier_category": None, - "frequency_qualifier_closure": [], - "frequency_qualifier_closure_label": [], - "onset_qualifier_label": None, - "onset_qualifier_namespace": None, - "onset_qualifier_category": None, - "onset_qualifier_closure": [], - "onset_qualifier_closure_label": [], - "sex_qualifier_label": None, - "sex_qualifier_namespace": None, - "sex_qualifier_category": None, - "sex_qualifier_closure": [], - "sex_qualifier_closure_label": [], - "stage_qualifier_label": None, - "stage_qualifier_namespace": None, - "stage_qualifier_category": None, - "stage_qualifier_closure": [], - "stage_qualifier_closure_label": [], - }, - { - "id": "903d8f84-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:5795669", - "original_subject": None, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", - "subject_closure": [], - "subject_label": "Dmdmdx/Y Utrntm1Jrs/Utrn+ [background:] involves: 129S1/Sv * 129X1/SvJ * C57BL/10ScSn", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0010679", - "original_object": "DOID:11723", + "subject_taxon": None, + "subject_taxon_label": None, + "predicate": "biolink:subclass_of", + "object": "MONDO:0016106", + "original_object": None, "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", - "BFO:0000017", - "MONDO:0005071", - "MONDO:0700096", "MONDO:0020121", - "BFO:0000001", - "MONDO:0005336", - "MONDO:0100545", - "BFO:0000020", + "BFO:0000017", "BFO:0000002", - "BFO:0000016", - "MONDO:0000001", - "MONDO:0010679", - "MONDO:0100546", - "OGMS:0000031", "MONDO:0020120", "MONDO:0019056", + "MONDO:0005071", + "MONDO:0100546", + "OGMS:0000031", + "MONDO:0000001", + "MONDO:0016106", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "BFO:0000001", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0003847", + "MONDO:0700096", ], - "object_label": "Duchenne muscular dystrophy", + "object_label": "progressive muscular dystrophy", "object_closure_label": [ "hereditary neuromuscular disease", + "disposition", "hereditary disease", + "nervous system disorder", "muscle tissue disorder", - "realizable entity", - "human disease", - "disease", - "disease", - "Duchenne muscular dystrophy", "muscular dystrophy", - "myopathy", - "hereditary neurological disease", + "hereditary skeletal muscle disorder", + "disease", "continuant", - "musculoskeletal system disorder", - "specifically dependent continuant", "skeletal muscle disorder", "neuromuscular disease", - "hereditary skeletal muscle disorder", "entity", - "nervous system disorder", - "disposition", + "specifically dependent continuant", + "progressive muscular dystrophy", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "realizable entity", + "human disease", + "myopathy", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mgi", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"], + "primary_knowledge_source": "infores:mondo", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"], "negated": None, "pathway": None, "evidence_count": 0, - "knowledge_level": "knowledge_assertion", - "agent_type": "manual_agent", + "knowledge_level": "not_provided", + "agent_type": "not_provided", "has_evidence": [], "has_evidence_links": [], "has_count": None, "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "MGI:5795669||biolink:model_of|MONDO:0010679", - "provided_by": "alliance_disease_edges", + "grouping_key": "MONDO:0001347||biolink:subclass_of|MONDO:0016106", + "provided_by": "phenio_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease", + "id": "phenio", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", }, "publications": [], "publications_links": [], @@ -1571,111 +1435,115 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "903d9050-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:3763920", + "id": "urn:uuid:661c1f3a-f279-4b25-b480-2c951d121616", + "category": "biolink:Association", + "subject": "MONDO:0001347", "original_subject": None, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", - "subject_closure": [], - "subject_label": "Tg(HSA*LR)20aCath/? [background:] involves: FVB/N", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0008056", - "original_object": "DOID:11722", - "object_namespace": "MONDO", - "object_category": "biolink:Disease", - "object_closure": [ - "MONDO:0005045", - "MONDO:0004995", - "MONDO:0700223", - "MONDO:0016106", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", - "BFO:0000017", - "MONDO:0008056", - "MONDO:0016120", - "MONDO:0016107", - "MONDO:0005071", - "MONDO:0005267", - "MONDO:0005217", - "MONDO:0700096", - "MONDO:0000591", - "MONDO:0004994", + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ "MONDO:0020121", - "MONDO:0002254", - "BFO:0000001", - "MONDO:0005336", - "MONDO:0100545", - "BFO:0000020", - "BFO:0000002", - "MONDO:0024573", - "BFO:0000016", - "MONDO:0000001", - "MONDO:0100546", - "MONDO:0100547", + "BFO:0000017", "OGMS:0000031", "MONDO:0020120", "MONDO:0019056", + "MONDO:0005071", + "MONDO:0100137", + "MONDO:0100546", + "MONDO:0000001", + "MONDO:0016106", + "BFO:0000002", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "MONDO:0001347", + "BFO:0000020", + "MONDO:0019303", + "BFO:0000001", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0003847", + "MONDO:0700096", ], - "object_label": "myotonic dystrophy type 1", - "object_closure_label": [ + "subject_label": "facioscapulohumeral muscular dystrophy", + "subject_closure_label": [ + "telomere syndrome", "hereditary neuromuscular disease", - "cardiogenetic disease", + "disposition", "hereditary disease", + "nervous system disorder", + "continuant", "muscle tissue disorder", - "realizable entity", - "human disease", - "intrinsic cardiomyopathy", - "disease", - "disease", "muscular dystrophy", + "disease", + "hereditary skeletal muscle disorder", + "skeletal muscle disorder", + "neuromuscular disease", + "entity", + "specifically dependent continuant", "progressive muscular dystrophy", - "myotonic dystrophy type 1", - "myopathy", + "facioscapulohumeral muscular dystrophy", + "disease", "hereditary neurological disease", - "continuant", - "familial cardiomyopathy", "musculoskeletal system disorder", - "myotonic syndrome", - "cardiomyopathy", + "realizable entity", + "human disease", + "myopathy", + "premature aging syndrome", + ], + "subject_taxon": None, + "subject_taxon_label": None, + "predicate": "biolink:subclass_of", + "object": "MONDO:0100137", + "original_object": None, + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ + "BFO:0000017", + "OGMS:0000031", + "MONDO:0100137", + "MONDO:0000001", + "BFO:0000002", + "BFO:0000016", + "BFO:0000020", + "MONDO:0019303", + "MONDO:0700096", + "BFO:0000001", + ], + "object_label": "telomere syndrome", + "object_closure_label": [ + "telomere syndrome", + "disposition", + "continuant", + "disease", "specifically dependent continuant", - "skeletal muscle disorder", - "neuromuscular disease", - "hypertrophic cardiomyopathy", - "cardiovascular disorder", - "hereditary skeletal muscle disorder", - "syndromic disease", + "disease", + "realizable entity", + "human disease", "entity", - "myotonic dystrophy", - "nervous system disorder", - "heart disorder", - "familial hypertrophic cardiomyopathy", - "disposition", + "premature aging syndrome", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mgi", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"], + "primary_knowledge_source": "infores:mondo", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"], "negated": None, "pathway": None, "evidence_count": 0, - "knowledge_level": "knowledge_assertion", - "agent_type": "manual_agent", + "knowledge_level": "not_provided", + "agent_type": "not_provided", "has_evidence": [], "has_evidence_links": [], "has_count": None, "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "MGI:3763920||biolink:model_of|MONDO:0008056", - "provided_by": "alliance_disease_edges", + "grouping_key": "MONDO:0001347||biolink:subclass_of|MONDO:0100137", + "provided_by": "phenio_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease", + "id": "phenio", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", }, "publications": [], "publications_links": [], @@ -1717,111 +1585,137 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "903d90f2-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:3763917", + "id": "urn:uuid:ee30e06f-959f-4f3b-a360-f751f23d04e5", + "category": "biolink:Association", + "subject": "MONDO:0009181", "original_subject": None, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", - "subject_closure": [], - "subject_label": "Tg(HSA*LR)20bCath/? [background:] involves: FVB/N", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0008056", - "original_object": "DOID:11722", - "object_namespace": "MONDO", - "object_category": "biolink:Disease", - "object_closure": [ - "MONDO:0005045", - "MONDO:0004995", - "MONDO:0700223", - "MONDO:0016106", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ + "MONDO:0020121", "BFO:0000017", - "MONDO:0008056", - "MONDO:0016120", - "MONDO:0016107", + "MONDO:0019268", + "BFO:0000002", + "MONDO:0020120", + "MONDO:0019056", + "BFO:0000001", "MONDO:0005071", - "MONDO:0005267", - "MONDO:0005217", - "MONDO:0700096", - "MONDO:0000591", - "MONDO:0004994", - "MONDO:0020121", + "MONDO:0100546", + "OGMS:0000031", "MONDO:0002254", - "BFO:0000001", + "MONDO:0000001", + "MONDO:0016106", + "MONDO:0002051", + "MONDO:0100118", + "MONDO:0009181", + "MONDO:0019276", + "MONDO:0005093", + "MONDO:0006617", + "MONDO:0015152", + "MONDO:0000429", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", "MONDO:0005336", - "MONDO:0100545", + "MONDO:0006541", "BFO:0000020", - "BFO:0000002", - "MONDO:0024573", - "BFO:0000016", - "MONDO:0000001", - "MONDO:0100546", - "MONDO:0100547", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0017610", + "MONDO:0006025", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0016198", + "MONDO:0003847", + "MONDO:0016971", + "MONDO:0016139", + "MONDO:0700096", ], - "object_label": "myotonic dystrophy type 1", - "object_closure_label": [ + "subject_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", + "subject_closure_label": [ "hereditary neuromuscular disease", - "cardiogenetic disease", + "skin disorder", + "limb-girdle muscular dystrophy", + "disposition", "hereditary disease", + "nervous system disorder", "muscle tissue disorder", - "realizable entity", - "human disease", - "intrinsic cardiomyopathy", - "disease", - "disease", "muscular dystrophy", - "progressive muscular dystrophy", - "myotonic dystrophy type 1", - "myopathy", - "hereditary neurological disease", - "continuant", - "familial cardiomyopathy", - "musculoskeletal system disorder", - "myotonic syndrome", - "cardiomyopathy", + "epidermal disease", + "hereditary skeletal muscle disorder", + "hereditary skin disorder", "specifically dependent continuant", + "epidermolysis bullosa simplex", + "autosomal recessive disease", + "disease", + "continuant", "skeletal muscle disorder", "neuromuscular disease", - "hypertrophic cardiomyopathy", - "cardiovascular disorder", - "hereditary skeletal muscle disorder", + "progressive muscular dystrophy", + "integumentary system disorder", + "autosomal recessive limb-girdle muscular dystrophy", + "disease", + "vesiculobullous skin disease", + "epidermolysis bullosa simplex 5B, with muscular dystrophy", + "inherited epidermolysis bullosa", + "hereditary neurological disease", + "musculoskeletal system disorder", + "qualitative or quantitative defects of plectin", + "realizable entity", "syndromic disease", + "autosomal genetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "myopathy", + "epidermolysis bullosa", "entity", - "myotonic dystrophy", - "nervous system disorder", - "heart disorder", - "familial hypertrophic cardiomyopathy", + ], + "subject_taxon": None, + "subject_taxon_label": None, + "predicate": "biolink:subclass_of", + "object": "MONDO:0002254", + "original_object": None, + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ + "BFO:0000017", + "MONDO:0002254", + "MONDO:0000001", + "BFO:0000002", + "BFO:0000016", + "BFO:0000020", + "BFO:0000001", + "MONDO:0700096", + ], + "object_label": "syndromic disease", + "object_closure_label": [ "disposition", + "continuant", + "entity", + "specifically dependent continuant", + "disease", + "realizable entity", + "syndromic disease", + "human disease", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mgi", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"], + "primary_knowledge_source": "infores:mondo", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"], "negated": None, "pathway": None, "evidence_count": 0, - "knowledge_level": "knowledge_assertion", - "agent_type": "manual_agent", + "knowledge_level": "not_provided", + "agent_type": "not_provided", "has_evidence": [], "has_evidence_links": [], "has_count": None, "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "MGI:3763917||biolink:model_of|MONDO:0008056", - "provided_by": "alliance_disease_edges", + "grouping_key": "MONDO:0009181||biolink:subclass_of|MONDO:0002254", + "provided_by": "phenio_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease", + "id": "phenio", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", }, "publications": [], "publications_links": [], @@ -1863,93 +1757,169 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "903d9151-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:3789197", + "id": "urn:uuid:92e4af9c-868d-498d-845b-22b84bab28df", + "category": "biolink:Association", + "subject": "MONDO:0009181", "original_subject": None, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", - "subject_closure": [], - "subject_label": "Lama2tm1Stk/Lama2tm1Stk [background:] involves: 129/Sv * 129P2/OlaHsd * BALB/c * ICR", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0011925", - "original_object": "DOID:0110636", - "object_namespace": "MONDO", - "object_category": "biolink:Disease", - "object_closure": [ + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ + "MONDO:0020121", + "BFO:0000017", + "MONDO:0019268", + "BFO:0000002", + "MONDO:0020120", + "MONDO:0019056", + "BFO:0000001", + "MONDO:0005071", + "MONDO:0100546", + "OGMS:0000031", + "MONDO:0002254", + "MONDO:0000001", + "MONDO:0016106", + "MONDO:0002051", + "MONDO:0100118", + "MONDO:0009181", + "MONDO:0019276", + "MONDO:0005093", + "MONDO:0006617", + "MONDO:0015152", + "MONDO:0000429", + "BFO:0000016", + "MONDO:0003939", "MONDO:0700223", + "MONDO:0005336", + "MONDO:0006541", + "BFO:0000020", + "MONDO:0017610", + "MONDO:0006025", + "MONDO:0100545", "MONDO:0002081", + "MONDO:0016198", "MONDO:0003847", - "MONDO:0003939", - "BFO:0000017", - "MONDO:0005071", - "BFO:0000002", + "MONDO:0016971", + "MONDO:0016139", "MONDO:0700096", + ], + "subject_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", + "subject_closure_label": [ + "hereditary neuromuscular disease", + "skin disorder", + "limb-girdle muscular dystrophy", + "disposition", + "hereditary disease", + "nervous system disorder", + "muscle tissue disorder", + "muscular dystrophy", + "epidermal disease", + "hereditary skeletal muscle disorder", + "hereditary skin disorder", + "specifically dependent continuant", + "epidermolysis bullosa simplex", + "autosomal recessive disease", + "disease", + "continuant", + "skeletal muscle disorder", + "neuromuscular disease", + "progressive muscular dystrophy", + "integumentary system disorder", + "autosomal recessive limb-girdle muscular dystrophy", + "disease", + "vesiculobullous skin disease", + "epidermolysis bullosa simplex 5B, with muscular dystrophy", + "inherited epidermolysis bullosa", + "hereditary neurological disease", + "musculoskeletal system disorder", + "qualitative or quantitative defects of plectin", + "realizable entity", + "syndromic disease", + "autosomal genetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "myopathy", + "epidermolysis bullosa", + "entity", + ], + "subject_taxon": None, + "subject_taxon_label": None, + "predicate": "biolink:subclass_of", + "object": "MONDO:0015152", + "original_object": None, + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ "MONDO:0020121", + "BFO:0000017", + "BFO:0000002", + "MONDO:0020120", + "MONDO:0019056", "BFO:0000001", - "MONDO:0019950", - "MONDO:0100228", - "BFO:0000020", - "MONDO:0005336", - "MONDO:0100545", - "MONDO:0011925", - "MONDO:0002320", - "BFO:0000016", - "MONDO:0000001", + "MONDO:0005071", "MONDO:0100546", "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0000001", + "MONDO:0016106", + "MONDO:0015152", + "MONDO:0000429", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "MONDO:0006025", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0003847", + "MONDO:0016971", + "MONDO:0700096", ], - "object_label": "congenital merosin-deficient muscular dystrophy 1A", + "object_label": "autosomal recessive limb-girdle muscular dystrophy", "object_closure_label": [ "hereditary neuromuscular disease", + "limb-girdle muscular dystrophy", + "disposition", "hereditary disease", + "nervous system disorder", "muscle tissue disorder", - "realizable entity", - "human disease", + "muscular dystrophy", + "hereditary skeletal muscle disorder", + "specifically dependent continuant", + "autosomal recessive disease", "disease", + "continuant", + "skeletal muscle disorder", + "neuromuscular disease", + "progressive muscular dystrophy", + "autosomal recessive limb-girdle muscular dystrophy", "disease", - "muscular dystrophy", - "LAMA2-related muscular dystrophy", - "myopathy", "hereditary neurological disease", "musculoskeletal system disorder", - "congenital merosin-deficient muscular dystrophy 1A", - "skeletal muscle disorder", - "neuromuscular disease", - "hereditary skeletal muscle disorder", - "specifically dependent continuant", - "congenital muscular dystrophy", + "realizable entity", + "autosomal genetic disease", + "human disease", + "myopathy", "entity", - "nervous system disorder", - "continuant", - "disposition", - "congenital nervous system disorder", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mgi", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"], + "primary_knowledge_source": "infores:mondo", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"], "negated": None, "pathway": None, "evidence_count": 0, - "knowledge_level": "knowledge_assertion", - "agent_type": "manual_agent", + "knowledge_level": "not_provided", + "agent_type": "not_provided", "has_evidence": [], "has_evidence_links": [], "has_count": None, "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "MGI:3789197||biolink:model_of|MONDO:0011925", - "provided_by": "alliance_disease_edges", + "grouping_key": "MONDO:0009181||biolink:subclass_of|MONDO:0015152", + "provided_by": "phenio_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease", + "id": "phenio", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", }, "publications": [], "publications_links": [], @@ -1991,93 +1961,147 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "903d9152-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:3789197", + "id": "urn:uuid:3813ba53-1bd5-4456-bb6c-10ac0a46fb31", + "category": "biolink:Association", + "subject": "MONDO:0009181", "original_subject": None, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", - "subject_closure": [], - "subject_label": "Lama2tm1Stk/Lama2tm1Stk [background:] involves: 129/Sv * 129P2/OlaHsd * BALB/c * ICR", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0011925", - "original_object": "DOID:0110636", - "object_namespace": "MONDO", - "object_category": "biolink:Disease", - "object_closure": [ - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ + "MONDO:0020121", "BFO:0000017", - "MONDO:0005071", + "MONDO:0019268", "BFO:0000002", - "MONDO:0700096", - "MONDO:0020121", + "MONDO:0020120", + "MONDO:0019056", "BFO:0000001", - "MONDO:0019950", - "MONDO:0100228", - "BFO:0000020", - "MONDO:0005336", - "MONDO:0100545", - "MONDO:0011925", - "MONDO:0002320", - "BFO:0000016", - "MONDO:0000001", + "MONDO:0005071", "MONDO:0100546", "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", - ], - "object_label": "congenital merosin-deficient muscular dystrophy 1A", - "object_closure_label": [ - "hereditary neuromuscular disease", - "hereditary disease", - "muscle tissue disorder", - "realizable entity", - "human disease", - "disease", - "disease", - "muscular dystrophy", - "LAMA2-related muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "musculoskeletal system disorder", - "congenital merosin-deficient muscular dystrophy 1A", - "skeletal muscle disorder", - "neuromuscular disease", + "MONDO:0002254", + "MONDO:0000001", + "MONDO:0016106", + "MONDO:0002051", + "MONDO:0100118", + "MONDO:0009181", + "MONDO:0019276", + "MONDO:0005093", + "MONDO:0006617", + "MONDO:0015152", + "MONDO:0000429", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "MONDO:0006541", + "BFO:0000020", + "MONDO:0017610", + "MONDO:0006025", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0016198", + "MONDO:0003847", + "MONDO:0016971", + "MONDO:0016139", + "MONDO:0700096", + ], + "subject_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", + "subject_closure_label": [ + "hereditary neuromuscular disease", + "skin disorder", + "limb-girdle muscular dystrophy", + "disposition", + "hereditary disease", + "nervous system disorder", + "muscle tissue disorder", + "muscular dystrophy", + "epidermal disease", "hereditary skeletal muscle disorder", + "hereditary skin disorder", "specifically dependent continuant", - "congenital muscular dystrophy", + "epidermolysis bullosa simplex", + "autosomal recessive disease", + "disease", + "continuant", + "skeletal muscle disorder", + "neuromuscular disease", + "progressive muscular dystrophy", + "integumentary system disorder", + "autosomal recessive limb-girdle muscular dystrophy", + "disease", + "vesiculobullous skin disease", + "epidermolysis bullosa simplex 5B, with muscular dystrophy", + "inherited epidermolysis bullosa", + "hereditary neurological disease", + "musculoskeletal system disorder", + "qualitative or quantitative defects of plectin", + "realizable entity", + "syndromic disease", + "autosomal genetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "myopathy", + "epidermolysis bullosa", "entity", + ], + "subject_taxon": None, + "subject_taxon_label": None, + "predicate": "biolink:subclass_of", + "object": "MONDO:0016198", + "original_object": None, + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ + "BFO:0000017", + "OGMS:0000031", + "MONDO:0005071", + "MONDO:0000001", + "BFO:0000002", + "BFO:0000016", + "BFO:0000020", + "MONDO:0100545", + "MONDO:0016198", + "MONDO:0003847", + "MONDO:0016139", + "MONDO:0700096", + "BFO:0000001", + ], + "object_label": "qualitative or quantitative defects of plectin", + "object_closure_label": [ + "disposition", + "hereditary disease", "nervous system disorder", "continuant", - "disposition", - "congenital nervous system disorder", + "disease", + "specifically dependent continuant", + "disease", + "hereditary neurological disease", + "qualitative or quantitative defects of plectin", + "realizable entity", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "entity", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mgi", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"], + "primary_knowledge_source": "infores:mondo", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"], "negated": None, "pathway": None, "evidence_count": 0, - "knowledge_level": "knowledge_assertion", - "agent_type": "manual_agent", + "knowledge_level": "not_provided", + "agent_type": "not_provided", "has_evidence": [], "has_evidence_links": [], "has_count": None, "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "MGI:3789197||biolink:model_of|MONDO:0011925", - "provided_by": "alliance_disease_edges", + "grouping_key": "MONDO:0009181||biolink:subclass_of|MONDO:0016198", + "provided_by": "phenio_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease", + "id": "phenio", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", }, "publications": [], "publications_links": [], @@ -2119,109 +2143,155 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "903d9154-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:2651647", + "id": "urn:uuid:08fa632e-5424-4d36-a178-76151d323505", + "category": "biolink:Association", + "subject": "MONDO:0009181", "original_subject": None, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", - "subject_closure": [], - "subject_label": "Ttntm1Her/Ttntm1Her Tg(Ckmm-cre)5Khn/0 [background:] Not Specified", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0012127", - "original_object": "DOID:0110283", - "object_namespace": "MONDO", - "object_category": "biolink:Disease", - "object_closure": [ - "MONDO:0012127", - "MONDO:0100175", - "MONDO:0700223", - "MONDO:0016106", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", - "MONDO:0019952", + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ + "MONDO:0020121", "BFO:0000017", - "MONDO:0005071", + "MONDO:0019268", "BFO:0000002", - "MONDO:0700096", - "MONDO:0020121", + "MONDO:0020120", + "MONDO:0019056", + "BFO:0000001", + "MONDO:0005071", + "MONDO:0100546", + "OGMS:0000031", + "MONDO:0002254", + "MONDO:0000001", + "MONDO:0016106", + "MONDO:0002051", + "MONDO:0100118", + "MONDO:0009181", + "MONDO:0019276", + "MONDO:0005093", + "MONDO:0006617", + "MONDO:0015152", "MONDO:0000429", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "MONDO:0006541", "BFO:0000020", - "MONDO:0016971", - "MONDO:0100493", + "MONDO:0017610", "MONDO:0006025", - "MONDO:0005336", "MONDO:0100545", - "MONDO:0015152", - "MONDO:0002320", - "MONDO:0016191", - "BFO:0000016", - "BFO:0000001", - "MONDO:0000001", - "MONDO:0100546", + "MONDO:0002081", + "MONDO:0016198", + "MONDO:0003847", + "MONDO:0016971", "MONDO:0016139", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0700096", ], - "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2J", - "object_closure_label": [ + "subject_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", + "subject_closure_label": [ "hereditary neuromuscular disease", - "qualitative or quantitative protein defects in neuromuscular diseases", + "skin disorder", + "limb-girdle muscular dystrophy", + "disposition", "hereditary disease", + "nervous system disorder", "muscle tissue disorder", - "limb-girdle muscular dystrophy", - "autosomal recessive titinopathy", - "congenital myopathy", - "realizable entity", - "human disease", - "disease", - "disease", "muscular dystrophy", - "autosomal genetic disease", - "progressive muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "musculoskeletal system disorder", - "skeletal muscle disorder", - "neuromuscular disease", - "TTN-related myopathy", + "epidermal disease", "hereditary skeletal muscle disorder", + "hereditary skin disorder", "specifically dependent continuant", - "entity", - "autosomal recessive limb-girdle muscular dystrophy type 2J", + "epidermolysis bullosa simplex", "autosomal recessive disease", - "nervous system disorder", + "disease", "continuant", - "qualitative or quantitative defects of titin", - "disposition", + "skeletal muscle disorder", + "neuromuscular disease", + "progressive muscular dystrophy", + "integumentary system disorder", "autosomal recessive limb-girdle muscular dystrophy", - "congenital nervous system disorder", + "disease", + "vesiculobullous skin disease", + "epidermolysis bullosa simplex 5B, with muscular dystrophy", + "inherited epidermolysis bullosa", + "hereditary neurological disease", + "musculoskeletal system disorder", + "qualitative or quantitative defects of plectin", + "realizable entity", + "syndromic disease", + "autosomal genetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "myopathy", + "epidermolysis bullosa", + "entity", + ], + "subject_taxon": None, + "subject_taxon_label": None, + "predicate": "biolink:subclass_of", + "object": "MONDO:0017610", + "original_object": None, + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ + "BFO:0000017", + "MONDO:0019268", + "BFO:0000001", + "OGMS:0000031", + "BFO:0000002", + "MONDO:0000001", + "MONDO:0002051", + "MONDO:0100118", + "MONDO:0019276", + "MONDO:0005093", + "MONDO:0006617", + "BFO:0000016", + "MONDO:0006541", + "BFO:0000020", + "MONDO:0017610", + "MONDO:0003847", + "MONDO:0700096", + ], + "object_label": "epidermolysis bullosa simplex", + "object_closure_label": [ + "skin disorder", + "disposition", + "hereditary disease", + "epidermal disease", + "hereditary skin disorder", + "specifically dependent continuant", + "epidermolysis bullosa simplex", + "disease", + "integumentary system disorder", + "disease", + "vesiculobullous skin disease", + "inherited epidermolysis bullosa", + "realizable entity", + "continuant", + "human disease", + "epidermolysis bullosa", + "entity", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mgi", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"], + "primary_knowledge_source": "infores:mondo", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"], "negated": None, "pathway": None, "evidence_count": 0, - "knowledge_level": "knowledge_assertion", - "agent_type": "manual_agent", + "knowledge_level": "not_provided", + "agent_type": "not_provided", "has_evidence": [], "has_evidence_links": [], "has_count": None, "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "MGI:2651647||biolink:model_of|MONDO:0012127", - "provided_by": "alliance_disease_edges", + "grouping_key": "MONDO:0009181||biolink:subclass_of|MONDO:0017610", + "provided_by": "phenio_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease", + "id": "phenio", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", }, "publications": [], "publications_links": [], @@ -2263,87 +2333,139 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "90492df4-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:3798788", + "id": "urn:uuid:f565c914-5f8c-4f5c-8a3d-587411e16d9a", + "category": "biolink:Association", + "subject": "MONDO:0008409", "original_subject": None, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", - "subject_closure": [], - "subject_label": "Dmdmdx-5Cv/Dmdmdx-5Cv [background:] B6Ros.Cg-Dmdmdx-5Cv/J", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0010679", - "original_object": "DOID:11723", - "object_namespace": "MONDO", - "object_category": "biolink:Disease", - "object_closure": [ + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ + "MONDO:0020121", + "MONDO:0004995", + "MONDO:0019952", + "BFO:0000017", + "OGMS:0000031", + "MONDO:0005021", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0005071", + "MONDO:0005267", + "MONDO:0100546", + "MONDO:0004994", + "MONDO:0016333", + "MONDO:0000001", + "MONDO:0000727", + "MONDO:0016106", + "MONDO:0000591", + "BFO:0000002", + "MONDO:0005217", + "MONDO:0008409", + "BFO:0000016", + "MONDO:0003939", "MONDO:0700223", + "MONDO:0005336", + "MONDO:0016830", + "BFO:0000020", + "MONDO:0002320", + "MONDO:0100545", "MONDO:0002081", + "MONDO:0016195", "MONDO:0003847", - "MONDO:0003939", - "BFO:0000017", - "MONDO:0005071", + "MONDO:0100547", + "MONDO:0016139", "MONDO:0700096", - "MONDO:0020121", "BFO:0000001", - "MONDO:0005336", - "MONDO:0100545", - "BFO:0000020", - "BFO:0000002", - "BFO:0000016", - "MONDO:0000001", - "MONDO:0010679", - "MONDO:0100546", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", ], - "object_label": "Duchenne muscular dystrophy", - "object_closure_label": [ + "subject_label": "congenital myopathy 7A, myosin storage, autosomal dominant", + "subject_closure_label": [ "hereditary neuromuscular disease", + "congenital myopathy 7A, myosin storage, autosomal dominant", + "disposition", "hereditary disease", + "nervous system disorder", + "heart disorder", + "continuant", "muscle tissue disorder", - "realizable entity", - "human disease", - "disease", - "disease", - "Duchenne muscular dystrophy", "muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "continuant", - "musculoskeletal system disorder", + "cardiovascular disorder", + "familial cardiomyopathy", + "disease", + "dilated cardiomyopathy", + "cardiomyopathy", + "Emery-Dreifuss muscular dystrophy", + "hereditary skeletal muscle disorder", + "intrinsic cardiomyopathy", "specifically dependent continuant", "skeletal muscle disorder", "neuromuscular disease", - "hereditary skeletal muscle disorder", - "entity", - "nervous system disorder", + "congenital nervous system disorder", + "scapuloperoneal myopathy", + "progressive muscular dystrophy", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital myopathy", + "realizable entity", + "familial dilated cardiomyopathy", + "cardiogenetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "entity", + "myopathy", + "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)", + ], + "subject_taxon": None, + "subject_taxon_label": None, + "predicate": "biolink:subclass_of", + "object": "MONDO:0002320", + "original_object": None, + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ + "BFO:0000017", + "BFO:0000002", + "MONDO:0005071", + "OGMS:0000031", + "MONDO:0000001", + "BFO:0000016", + "BFO:0000020", + "MONDO:0002320", + "BFO:0000001", + "MONDO:0700096", + ], + "object_label": "congenital nervous system disorder", + "object_closure_label": [ "disposition", + "nervous system disorder", + "specifically dependent continuant", + "disease", + "continuant", + "congenital nervous system disorder", + "entity", + "disease", + "realizable entity", + "human disease", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mgi", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"], + "primary_knowledge_source": "infores:mondo", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"], "negated": None, "pathway": None, "evidence_count": 0, - "knowledge_level": "knowledge_assertion", - "agent_type": "manual_agent", + "knowledge_level": "not_provided", + "agent_type": "not_provided", "has_evidence": [], "has_evidence_links": [], "has_count": None, "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "MGI:3798788||biolink:model_of|MONDO:0010679", - "provided_by": "alliance_disease_edges", + "grouping_key": "MONDO:0008409||biolink:subclass_of|MONDO:0002320", + "provided_by": "phenio_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease", + "id": "phenio", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", }, "publications": [], "publications_links": [], @@ -2385,87 +2507,443 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "90492e3e-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:3798606", + "id": "urn:uuid:abdf756e-4ab2-4892-a92e-d7700c001683", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0008409", "original_subject": None, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", - "subject_closure": [], - "subject_label": "Dmdmdx-3Cv/Y [background:] involves: C3H/HeHa * C57BL/6Ros * C57BL/10Sn * M. m. castaneus * M. m. musculus", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0010679", - "original_object": "DOID:11723", - "object_namespace": "MONDO", - "object_category": "biolink:Disease", - "object_closure": [ + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ + "MONDO:0020121", + "MONDO:0004995", + "MONDO:0019952", + "BFO:0000017", + "OGMS:0000031", + "MONDO:0005021", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0005071", + "MONDO:0005267", + "MONDO:0100546", + "MONDO:0004994", + "MONDO:0016333", + "MONDO:0000001", + "MONDO:0000727", + "MONDO:0016106", + "MONDO:0000591", + "BFO:0000002", + "MONDO:0005217", + "MONDO:0008409", + "BFO:0000016", + "MONDO:0003939", "MONDO:0700223", + "MONDO:0005336", + "MONDO:0016830", + "BFO:0000020", + "MONDO:0002320", + "MONDO:0100545", "MONDO:0002081", + "MONDO:0016195", "MONDO:0003847", - "MONDO:0003939", - "BFO:0000017", - "MONDO:0005071", + "MONDO:0100547", + "MONDO:0016139", "MONDO:0700096", - "MONDO:0020121", "BFO:0000001", - "MONDO:0005336", - "MONDO:0100545", + ], + "subject_label": "congenital myopathy 7A, myosin storage, autosomal dominant", + "subject_closure_label": [ + "hereditary neuromuscular disease", + "congenital myopathy 7A, myosin storage, autosomal dominant", + "disposition", + "hereditary disease", + "nervous system disorder", + "heart disorder", + "continuant", + "muscle tissue disorder", + "muscular dystrophy", + "cardiovascular disorder", + "familial cardiomyopathy", + "disease", + "dilated cardiomyopathy", + "cardiomyopathy", + "Emery-Dreifuss muscular dystrophy", + "hereditary skeletal muscle disorder", + "intrinsic cardiomyopathy", + "specifically dependent continuant", + "skeletal muscle disorder", + "neuromuscular disease", + "congenital nervous system disorder", + "scapuloperoneal myopathy", + "progressive muscular dystrophy", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital myopathy", + "realizable entity", + "familial dilated cardiomyopathy", + "cardiogenetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "entity", + "myopathy", + "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)", + ], + "subject_taxon": None, + "subject_taxon_label": None, + "predicate": "biolink:has_phenotype", + "object": "HP:0100306", + "original_object": None, + "object_namespace": "HP", + "object_category": "biolink:PhenotypicFeature", + "object_closure": [ + "UPHENO:0076692", + "BFO:0000002", + "UPHENO:0001001", + "RO:0002577", + "UBERON:0014892", + "UBERON:0002036", + "UPHENO:0002816", + "PATO:0000001", + "HP:0000001", + "HP:0004303", + "HP:0000118", + "UPHENO:0001003", + "HP:0100306", + "UBERON:0000479", + "UBERON:0000062", + "UPHENO:0086172", + "HP:0100299", + "HP:0100303", + "UBERON:0000467", + "CL:0000000", + "UBERON:0005090", + "UBERON:0018254", + "UBERON:0004120", + "BFO:0000002", + "BFO:0000001", + "GO:0110165", + "UBERON:0000061", + "UBERON:0000468", + "UBERON:0011216", + "HP:0003011", + "UPHENO:0002536", + "UBERON:0000383", + "UBERON:0001015", + "UBERON:0001134", + "HP:0011805", + "UPHENO:0001002", + "UPHENO:0076710", + "BFO:0000040", + "UBERON:0001062", + "UPHENO:0001005", "BFO:0000020", + "HP:0025354", + "UPHENO:0088180", + "UBERON:0010000", + "CL:0000188", + "UBERON:0001630", + "UBERON:0002385", + "GO:0005622", + "HP:0033127", + "GO:0016234", + "BFO:0000004", + "UPHENO:0087047", + "BFO:0000001", + "GO:0005575", + "UBERON:0000465", + ], + "object_label": "Muscle fiber hyaline bodies", + "object_closure_label": [ + "phenotype", + "abnormal musculature", + "skeletal muscle organ, vertebrate", + "striated muscle tissue", + "Abnormal skeletal muscle morphology", + "multicellular anatomical structure", + "continuant", + "continuant", + "cell of skeletal muscle", + "muscle organ", + "muscle tissue", + "Abnormality of the musculature", + "abnormal anatomical entity morphology", + "All", + "Abnormal muscle fiber morphology", + "Abnormal cellular phenotype", + "abnormal cell of skeletal muscle morphology", + "entity", + "Phenotypic abnormality", + "Muscle fiber cytoplasmatic inclusion bodies", + "specifically dependent continuant", + "intracellular anatomical structure", + "skeletal muscle tissue", + "abnormal phenotype by ontology source", + "abnormal anatomical entity", + "system", + "multicellular organism", + "organ system subdivision", + "abnormal cell", + "Muscle fiber inclusion bodies", + "material entity", + "anatomical entity", + "Abnormality of the musculoskeletal system", + "tissue", + "organ", + "musculature of body", + "musculature", + "phenotype by ontology source", + "Muscle fiber hyaline bodies", + "quality", + "Phenotypic abnormality", + "entity", + "cellular anatomical entity", + "anatomical structure", + "inclusion body", + "abnormal skeletal muscle tissue morphology", + "abnormal muscle organ morphology", + "cellular_component", + "material anatomical entity", + "independent continuant", + "anatomical system", + "cell", + "muscle structure", + "skeletal musculature", + "mesoderm-derived structure", + ], + "object_taxon": None, + "object_taxon_label": None, + "primary_knowledge_source": "infores:mondo", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"], + "negated": None, + "pathway": None, + "evidence_count": 0, + "knowledge_level": "not_provided", + "agent_type": "not_provided", + "has_evidence": [], + "has_evidence_links": [], + "has_count": None, + "has_total": None, + "has_percentage": None, + "has_quotient": None, + "grouping_key": "MONDO:0008409||biolink:has_phenotype|HP:0100306", + "provided_by": "phenio_edges", + "provided_by_link": { + "id": "phenio", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", + }, + "publications": [], + "publications_links": [], + "frequency_qualifier": None, + "onset_qualifier": None, + "sex_qualifier": None, + "stage_qualifier": None, + "qualifiers": [], + "qualifiers_label": None, + "qualifiers_namespace": None, + "qualifiers_category": None, + "qualifiers_closure": [], + "qualifiers_closure_label": [], + "qualifier": [], + "qualifier_label": None, + "qualifier_namespace": None, + "qualifier_category": None, + "qualifier_closure": [], + "qualifier_closure_label": [], + "frequency_qualifier_label": None, + "frequency_qualifier_namespace": None, + "frequency_qualifier_category": None, + "frequency_qualifier_closure": [], + "frequency_qualifier_closure_label": [], + "onset_qualifier_label": None, + "onset_qualifier_namespace": None, + "onset_qualifier_category": None, + "onset_qualifier_closure": [], + "onset_qualifier_closure_label": [], + "sex_qualifier_label": None, + "sex_qualifier_namespace": None, + "sex_qualifier_category": None, + "sex_qualifier_closure": [], + "sex_qualifier_closure_label": [], + "stage_qualifier_label": None, + "stage_qualifier_namespace": None, + "stage_qualifier_category": None, + "stage_qualifier_closure": [], + "stage_qualifier_closure_label": [], + }, + { + "id": "urn:uuid:c5e240ac-891c-4817-8967-afa1761b2cd9", + "category": "biolink:Association", + "subject": "MONDO:0008409", + "original_subject": None, + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ + "MONDO:0020121", + "MONDO:0004995", + "MONDO:0019952", + "BFO:0000017", + "OGMS:0000031", + "MONDO:0005021", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0005071", + "MONDO:0005267", + "MONDO:0100546", + "MONDO:0004994", + "MONDO:0016333", + "MONDO:0000001", + "MONDO:0000727", + "MONDO:0016106", + "MONDO:0000591", "BFO:0000002", + "MONDO:0005217", + "MONDO:0008409", "BFO:0000016", - "MONDO:0000001", - "MONDO:0010679", - "MONDO:0100546", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "MONDO:0016830", + "BFO:0000020", + "MONDO:0002320", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0016195", + "MONDO:0003847", + "MONDO:0100547", + "MONDO:0016139", + "MONDO:0700096", + "BFO:0000001", + ], + "subject_label": "congenital myopathy 7A, myosin storage, autosomal dominant", + "subject_closure_label": [ + "hereditary neuromuscular disease", + "congenital myopathy 7A, myosin storage, autosomal dominant", + "disposition", + "hereditary disease", + "nervous system disorder", + "heart disorder", + "continuant", + "muscle tissue disorder", + "muscular dystrophy", + "cardiovascular disorder", + "familial cardiomyopathy", + "disease", + "dilated cardiomyopathy", + "cardiomyopathy", + "Emery-Dreifuss muscular dystrophy", + "hereditary skeletal muscle disorder", + "intrinsic cardiomyopathy", + "specifically dependent continuant", + "skeletal muscle disorder", + "neuromuscular disease", + "congenital nervous system disorder", + "scapuloperoneal myopathy", + "progressive muscular dystrophy", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital myopathy", + "realizable entity", + "familial dilated cardiomyopathy", + "cardiogenetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "entity", + "myopathy", + "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)", + ], + "subject_taxon": None, + "subject_taxon_label": None, + "predicate": "biolink:subclass_of", + "object": "MONDO:0000727", + "original_object": None, + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ + "MONDO:0020121", + "MONDO:0004995", + "BFO:0000017", "OGMS:0000031", + "MONDO:0005021", + "BFO:0000002", "MONDO:0020120", "MONDO:0019056", + "BFO:0000001", + "MONDO:0005071", + "MONDO:0005267", + "MONDO:0100546", + "MONDO:0004994", + "MONDO:0016333", + "MONDO:0000001", + "MONDO:0000727", + "MONDO:0016106", + "MONDO:0000591", + "MONDO:0005217", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "MONDO:0016830", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0003847", + "MONDO:0100547", + "MONDO:0700096", ], - "object_label": "Duchenne muscular dystrophy", + "object_label": "scapuloperoneal myopathy", "object_closure_label": [ "hereditary neuromuscular disease", + "disposition", "hereditary disease", + "nervous system disorder", + "heart disorder", "muscle tissue disorder", - "realizable entity", - "human disease", + "muscular dystrophy", + "cardiovascular disorder", + "familial cardiomyopathy", "disease", + "dilated cardiomyopathy", + "cardiomyopathy", + "Emery-Dreifuss muscular dystrophy", + "hereditary skeletal muscle disorder", + "intrinsic cardiomyopathy", + "continuant", + "skeletal muscle disorder", + "neuromuscular disease", + "specifically dependent continuant", + "scapuloperoneal myopathy", + "progressive muscular dystrophy", "disease", - "Duchenne muscular dystrophy", - "muscular dystrophy", - "myopathy", "hereditary neurological disease", - "continuant", "musculoskeletal system disorder", - "specifically dependent continuant", - "skeletal muscle disorder", - "neuromuscular disease", - "hereditary skeletal muscle disorder", + "realizable entity", + "familial dilated cardiomyopathy", + "cardiogenetic disease", + "human disease", + "myopathy", "entity", - "nervous system disorder", - "disposition", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mgi", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"], + "primary_knowledge_source": "infores:mondo", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"], "negated": None, "pathway": None, "evidence_count": 0, - "knowledge_level": "knowledge_assertion", - "agent_type": "manual_agent", + "knowledge_level": "not_provided", + "agent_type": "not_provided", "has_evidence": [], "has_evidence_links": [], "has_count": None, "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "MGI:3798606||biolink:model_of|MONDO:0010679", - "provided_by": "alliance_disease_edges", + "grouping_key": "MONDO:0008409||biolink:subclass_of|MONDO:0000727", + "provided_by": "phenio_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease", + "id": "phenio", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", }, "publications": [], "publications_links": [], @@ -2507,87 +2985,145 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "90492f35-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:4936865", + "id": "urn:uuid:d3b50567-68b8-4aef-aea3-8d9d26d88d19", + "category": "biolink:Association", + "subject": "MONDO:0008409", "original_subject": None, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", - "subject_closure": [], - "subject_label": "Dmdmdx/Y Terctm1Rdp/Terctm1Rdp [background:] involves: 129/Sv * C57BL/6J * C57BL/10ScSn * SJL", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0010679", - "original_object": "DOID:11723", - "object_namespace": "MONDO", - "object_category": "biolink:Disease", - "object_closure": [ + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ + "MONDO:0020121", + "MONDO:0004995", + "MONDO:0019952", + "BFO:0000017", + "OGMS:0000031", + "MONDO:0005021", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0005071", + "MONDO:0005267", + "MONDO:0100546", + "MONDO:0004994", + "MONDO:0016333", + "MONDO:0000001", + "MONDO:0000727", + "MONDO:0016106", + "MONDO:0000591", + "BFO:0000002", + "MONDO:0005217", + "MONDO:0008409", + "BFO:0000016", + "MONDO:0003939", "MONDO:0700223", + "MONDO:0005336", + "MONDO:0016830", + "BFO:0000020", + "MONDO:0002320", + "MONDO:0100545", "MONDO:0002081", + "MONDO:0016195", "MONDO:0003847", - "MONDO:0003939", - "BFO:0000017", - "MONDO:0005071", + "MONDO:0100547", + "MONDO:0016139", "MONDO:0700096", - "MONDO:0020121", "BFO:0000001", - "MONDO:0005336", - "MONDO:0100545", - "BFO:0000020", - "BFO:0000002", - "BFO:0000016", - "MONDO:0000001", - "MONDO:0010679", - "MONDO:0100546", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", ], - "object_label": "Duchenne muscular dystrophy", - "object_closure_label": [ + "subject_label": "congenital myopathy 7A, myosin storage, autosomal dominant", + "subject_closure_label": [ "hereditary neuromuscular disease", + "congenital myopathy 7A, myosin storage, autosomal dominant", + "disposition", "hereditary disease", + "nervous system disorder", + "heart disorder", + "continuant", "muscle tissue disorder", - "realizable entity", - "human disease", - "disease", - "disease", - "Duchenne muscular dystrophy", "muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "continuant", - "musculoskeletal system disorder", + "cardiovascular disorder", + "familial cardiomyopathy", + "disease", + "dilated cardiomyopathy", + "cardiomyopathy", + "Emery-Dreifuss muscular dystrophy", + "hereditary skeletal muscle disorder", + "intrinsic cardiomyopathy", "specifically dependent continuant", "skeletal muscle disorder", "neuromuscular disease", - "hereditary skeletal muscle disorder", + "congenital nervous system disorder", + "scapuloperoneal myopathy", + "progressive muscular dystrophy", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital myopathy", + "realizable entity", + "familial dilated cardiomyopathy", + "cardiogenetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", "entity", - "nervous system disorder", + "myopathy", + "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)", + ], + "subject_taxon": None, + "subject_taxon_label": None, + "predicate": "biolink:subclass_of", + "object": "MONDO:0016195", + "original_object": None, + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ + "BFO:0000017", + "OGMS:0000031", + "BFO:0000001", + "MONDO:0005071", + "MONDO:0000001", + "BFO:0000002", + "BFO:0000016", + "BFO:0000020", + "MONDO:0100545", + "MONDO:0016195", + "MONDO:0003847", + "MONDO:0016139", + "MONDO:0700096", + ], + "object_label": "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)", + "object_closure_label": [ "disposition", + "hereditary disease", + "nervous system disorder", + "continuant", + "disease", + "specifically dependent continuant", + "disease", + "hereditary neurological disease", + "realizable entity", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)", + "entity", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mgi", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"], + "primary_knowledge_source": "infores:mondo", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"], "negated": None, "pathway": None, "evidence_count": 0, - "knowledge_level": "knowledge_assertion", - "agent_type": "manual_agent", + "knowledge_level": "not_provided", + "agent_type": "not_provided", "has_evidence": [], "has_evidence_links": [], "has_count": None, "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "MGI:4936865||biolink:model_of|MONDO:0010679", - "provided_by": "alliance_disease_edges", + "grouping_key": "MONDO:0008409||biolink:subclass_of|MONDO:0016195", + "provided_by": "phenio_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease", + "id": "phenio", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", }, "publications": [], "publications_links": [], @@ -2629,93 +3165,149 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "90492fad-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:3832643", + "id": "urn:uuid:45eda7c7-f0d0-441b-9fb4-e09cb00fba8b", + "category": "biolink:Association", + "subject": "MONDO:0008409", "original_subject": None, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", - "subject_closure": [], - "subject_label": "Pomgnt1tm1Stk/Pomgnt1tm1Stk [background:] involves: 129S/SvEv", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0000171", - "original_object": "DOID:0050560", - "object_namespace": "MONDO", - "object_category": "biolink:Disease", - "object_closure": [ - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", - "MONDO:0000171", + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ + "MONDO:0020121", + "MONDO:0004995", + "MONDO:0019952", "BFO:0000017", + "OGMS:0000031", + "MONDO:0005021", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0005071", + "MONDO:0005267", + "MONDO:0100546", + "MONDO:0004994", + "MONDO:0016333", + "MONDO:0000001", + "MONDO:0000727", + "MONDO:0016106", + "MONDO:0000591", "BFO:0000002", - "MONDO:0700096", - "MONDO:0020121", - "BFO:0000001", - "MONDO:0019950", - "MONDO:0018276", - "BFO:0000020", + "MONDO:0005217", + "MONDO:0008409", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", "MONDO:0005336", - "MONDO:0100545", + "MONDO:0016830", + "BFO:0000020", "MONDO:0002320", - "BFO:0000016", - "MONDO:0000001", - "MONDO:0100546", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0016195", + "MONDO:0003847", + "MONDO:0100547", + "MONDO:0016139", + "MONDO:0700096", + "BFO:0000001", ], - "object_label": "muscular dystrophy-dystroglycanopathy, type A", - "object_closure_label": [ + "subject_label": "congenital myopathy 7A, myosin storage, autosomal dominant", + "subject_closure_label": [ "hereditary neuromuscular disease", + "congenital myopathy 7A, myosin storage, autosomal dominant", + "disposition", "hereditary disease", + "nervous system disorder", + "heart disorder", + "continuant", "muscle tissue disorder", - "muscular dystrophy-dystroglycanopathy, type A", - "realizable entity", - "human disease", + "muscular dystrophy", + "cardiovascular disorder", + "familial cardiomyopathy", "disease", + "dilated cardiomyopathy", + "cardiomyopathy", + "Emery-Dreifuss muscular dystrophy", + "hereditary skeletal muscle disorder", + "intrinsic cardiomyopathy", + "specifically dependent continuant", + "skeletal muscle disorder", + "neuromuscular disease", + "congenital nervous system disorder", + "scapuloperoneal myopathy", + "progressive muscular dystrophy", "disease", - "muscular dystrophy", - "muscular dystrophy-dystroglycanopathy", - "myopathy", "hereditary neurological disease", "musculoskeletal system disorder", - "skeletal muscle disorder", - "neuromuscular disease", + "congenital myopathy", + "realizable entity", + "familial dilated cardiomyopathy", + "cardiogenetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "entity", + "myopathy", + "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)", + ], + "subject_taxon": None, + "subject_taxon_label": None, + "predicate": "biolink:subclass_of", + "object": "MONDO:0019952", + "original_object": None, + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ + "MONDO:0019952", + "BFO:0000017", + "OGMS:0000031", + "BFO:0000002", + "MONDO:0020120", + "BFO:0000001", + "MONDO:0000001", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "MONDO:0002081", + "MONDO:0003847", + "MONDO:0700096", + ], + "object_label": "congenital myopathy", + "object_closure_label": [ + "disposition", + "hereditary disease", + "muscle tissue disorder", + "disease", "hereditary skeletal muscle disorder", + "continuant", + "skeletal muscle disorder", "specifically dependent continuant", - "congenital muscular dystrophy", + "disease", + "musculoskeletal system disorder", + "congenital myopathy", + "realizable entity", + "human disease", + "myopathy", "entity", - "nervous system disorder", - "continuant", - "disposition", - "congenital nervous system disorder", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:mgi", - "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:agrkb"], + "primary_knowledge_source": "infores:mondo", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"], "negated": None, "pathway": None, "evidence_count": 0, - "knowledge_level": "knowledge_assertion", - "agent_type": "manual_agent", + "knowledge_level": "not_provided", + "agent_type": "not_provided", "has_evidence": [], "has_evidence_links": [], "has_count": None, "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "MGI:3832643||biolink:model_of|MONDO:0000171", - "provided_by": "alliance_disease_edges", + "grouping_key": "MONDO:0008409||biolink:subclass_of|MONDO:0019952", + "provided_by": "phenio_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease", + "id": "phenio", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", }, "publications": [], "publications_links": [], diff --git a/backend/tests/fixtures/associations_compact.py b/backend/tests/fixtures/associations_compact.py index eae10a8bb..7851080ac 100644 --- a/backend/tests/fixtures/associations_compact.py +++ b/backend/tests/fixtures/associations_compact.py @@ -6,186 +6,186 @@ def associations_compact(): return { "limit": 20, "offset": 0, - "total": 4944, + "total": 4965, "items": [ { - "category": "biolink:ChemicalToDiseaseOrPhenotypicFeatureAssociation", - "subject": "CHEBI:27881", - "subject_label": "resveratrol", - "predicate": "biolink:treats_or_applied_or_studied_to_treat", - "object": "MONDO:0010679", - "object_label": "Duchenne muscular dystrophy", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:26267", + "subject_label": "POMK", + "predicate": "biolink:causes", + "object": "MONDO:0014101", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", "negated": None, }, { - "category": "biolink:ChemicalToDiseaseOrPhenotypicFeatureAssociation", - "subject": "CHEBI:15891", - "subject_label": "taurine", - "predicate": "biolink:treats_or_applied_or_studied_to_treat", - "object": "MONDO:0010679", - "object_label": "Duchenne muscular dystrophy", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:10805", + "subject_label": "SGCA", + "predicate": "biolink:causes", + "object": "MONDO:0011968", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", "negated": None, }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:7264454", - "subject_label": "Large1m1Btlr/Large1m1Btlr [background:] C57BL/6J-Large1m1Btlr", - "predicate": "biolink:model_of", - "object": "MONDO:0013159", - "object_label": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:9069", + "subject_label": "PLEC", + "predicate": "biolink:causes", + "object": "MONDO:0009181", + "object_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", "negated": None, }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:5565211", - "subject_label": "Col6a3tm2.1Chu/Col6a3+ [background:] B6.129(Cg)-Col6a3tm2.1Chu", - "predicate": "biolink:model_of", - "object": "MONDO:0000355", - "object_label": "Ullrich congenital muscular dystrophy", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:15710", + "subject_label": "LDB3", + "predicate": "biolink:causes", + "object": "MONDO:0012277", + "object_label": "myofibrillar myopathy 4", "negated": None, }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:2661118", - "subject_label": "Dysftm1Kcam/Dysftm1Kcam [background:] involves: 129S1/Sv * 129X1/SvJ * C57BL/6", - "predicate": "biolink:model_of", - "object": "MONDO:0018949", - "object_label": "distal myopathy", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:6636", + "subject_label": "LMNA", + "predicate": "biolink:causes", + "object": "MONDO:0014676", + "object_label": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "negated": None, }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:5779562", - "subject_label": "Tg(ACTA1-Ctss)1Jmol/? [background:] FVB/N-Tg(ACTA1-Ctss)1Jmol", - "predicate": "biolink:model_of", - "object": "MONDO:0010679", - "object_label": "Duchenne muscular dystrophy", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:15685", + "subject_label": "B4GAT1", + "predicate": "biolink:causes", + "object": "MONDO:0014120", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13", "negated": None, }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:7278768", - "subject_label": "Sgcatm2Kcam/Sgcatm2Kcam [background:] B6.129S6-Sgcatm2Kcam/J", - "predicate": "biolink:model_of", - "object": "MONDO:0011968", - "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2666", + "subject_label": "DAG1", + "predicate": "biolink:causes", + "object": "MONDO:0014683", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9", "negated": None, }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:5767290", - "subject_label": "Tg(Ckm-DNAJB6_ib*F93L)#Ccwe/0 [background:] B6.Cg-Tg(Ckm-DNAJB6_ib*F93L)#Ccwe", - "predicate": "biolink:model_of", - "object": "MONDO:0021018", - "object_label": "autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2188", + "subject_label": "COL12A1", + "predicate": "biolink:causes", + "object": "MONDO:0034022", + "object_label": "Bethlem myopathy 2", "negated": None, }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:5688354", - "subject_label": "Dmdmdx/Dmdmdx [background:] D2.B10-Dmdmdx", - "predicate": "biolink:model_of", - "object": "MONDO:0010679", - "object_label": "Duchenne muscular dystrophy", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2188", + "subject_label": "COL12A1", + "predicate": "biolink:causes", + "object": "MONDO:0014654", + "object_label": "Ullrich congenital muscular dystrophy 2", "negated": None, }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:5298009", - "subject_label": "Selenontm1.2Mred/Selenontm1.2Mred [background:] involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL", - "predicate": "biolink:model_of", - "object": "MONDO:0011271", - "object_label": "rigid spine muscular dystrophy 1", + "category": "biolink:Association", + "subject": "MONDO:0001347", + "subject_label": "facioscapulohumeral muscular dystrophy", + "predicate": "biolink:subclass_of", + "object": "MONDO:0016106", + "object_label": "progressive muscular dystrophy", "negated": None, }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:5795669", - "subject_label": "Dmdmdx/Y Utrntm1Jrs/Utrn+ [background:] involves: 129S1/Sv * 129X1/SvJ * C57BL/10ScSn", - "predicate": "biolink:model_of", - "object": "MONDO:0010679", - "object_label": "Duchenne muscular dystrophy", + "category": "biolink:Association", + "subject": "MONDO:0001347", + "subject_label": "facioscapulohumeral muscular dystrophy", + "predicate": "biolink:subclass_of", + "object": "MONDO:0100137", + "object_label": "telomere syndrome", "negated": None, }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:3763920", - "subject_label": "Tg(HSA*LR)20aCath/? [background:] involves: FVB/N", - "predicate": "biolink:model_of", - "object": "MONDO:0008056", - "object_label": "myotonic dystrophy type 1", + "category": "biolink:Association", + "subject": "MONDO:0009181", + "subject_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", + "predicate": "biolink:subclass_of", + "object": "MONDO:0002254", + "object_label": "syndromic disease", "negated": None, }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:3763917", - "subject_label": "Tg(HSA*LR)20bCath/? [background:] involves: FVB/N", - "predicate": "biolink:model_of", - "object": "MONDO:0008056", - "object_label": "myotonic dystrophy type 1", + "category": "biolink:Association", + "subject": "MONDO:0009181", + "subject_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", + "predicate": "biolink:subclass_of", + "object": "MONDO:0015152", + "object_label": "autosomal recessive limb-girdle muscular dystrophy", "negated": None, }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:3789197", - "subject_label": "Lama2tm1Stk/Lama2tm1Stk [background:] involves: 129/Sv * 129P2/OlaHsd * BALB/c * ICR", - "predicate": "biolink:model_of", - "object": "MONDO:0011925", - "object_label": "congenital merosin-deficient muscular dystrophy 1A", + "category": "biolink:Association", + "subject": "MONDO:0009181", + "subject_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", + "predicate": "biolink:subclass_of", + "object": "MONDO:0016198", + "object_label": "qualitative or quantitative defects of plectin", "negated": None, }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:3789197", - "subject_label": "Lama2tm1Stk/Lama2tm1Stk [background:] involves: 129/Sv * 129P2/OlaHsd * BALB/c * ICR", - "predicate": "biolink:model_of", - "object": "MONDO:0011925", - "object_label": "congenital merosin-deficient muscular dystrophy 1A", + "category": "biolink:Association", + "subject": "MONDO:0009181", + "subject_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", + "predicate": "biolink:subclass_of", + "object": "MONDO:0017610", + "object_label": "epidermolysis bullosa simplex", "negated": None, }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:2651647", - "subject_label": "Ttntm1Her/Ttntm1Her Tg(Ckmm-cre)5Khn/0 [background:] Not Specified", - "predicate": "biolink:model_of", - "object": "MONDO:0012127", - "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2J", + "category": "biolink:Association", + "subject": "MONDO:0008409", + "subject_label": "congenital myopathy 7A, myosin storage, autosomal dominant", + "predicate": "biolink:subclass_of", + "object": "MONDO:0002320", + "object_label": "congenital nervous system disorder", "negated": None, }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:3798788", - "subject_label": "Dmdmdx-5Cv/Dmdmdx-5Cv [background:] B6Ros.Cg-Dmdmdx-5Cv/J", - "predicate": "biolink:model_of", - "object": "MONDO:0010679", - "object_label": "Duchenne muscular dystrophy", + "category": "biolink:DiseaseToPhenotypicFeatureAssociation", + "subject": "MONDO:0008409", + "subject_label": "congenital myopathy 7A, myosin storage, autosomal dominant", + "predicate": "biolink:has_phenotype", + "object": "HP:0100306", + "object_label": "Muscle fiber hyaline bodies", "negated": None, }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:3798606", - "subject_label": "Dmdmdx-3Cv/Y [background:] involves: C3H/HeHa * C57BL/6Ros * C57BL/10Sn * M. m. castaneus * M. m. musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0010679", - "object_label": "Duchenne muscular dystrophy", + "category": "biolink:Association", + "subject": "MONDO:0008409", + "subject_label": "congenital myopathy 7A, myosin storage, autosomal dominant", + "predicate": "biolink:subclass_of", + "object": "MONDO:0000727", + "object_label": "scapuloperoneal myopathy", "negated": None, }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:4936865", - "subject_label": "Dmdmdx/Y Terctm1Rdp/Terctm1Rdp [background:] involves: 129/Sv * C57BL/6J * C57BL/10ScSn * SJL", - "predicate": "biolink:model_of", - "object": "MONDO:0010679", - "object_label": "Duchenne muscular dystrophy", + "category": "biolink:Association", + "subject": "MONDO:0008409", + "subject_label": "congenital myopathy 7A, myosin storage, autosomal dominant", + "predicate": "biolink:subclass_of", + "object": "MONDO:0016195", + "object_label": "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)", "negated": None, }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:3832643", - "subject_label": "Pomgnt1tm1Stk/Pomgnt1tm1Stk [background:] involves: 129S/SvEv", - "predicate": "biolink:model_of", - "object": "MONDO:0000171", - "object_label": "muscular dystrophy-dystroglycanopathy, type A", + "category": "biolink:Association", + "subject": "MONDO:0008409", + "subject_label": "congenital myopathy 7A, myosin storage, autosomal dominant", + "predicate": "biolink:subclass_of", + "object": "MONDO:0019952", + "object_label": "congenital myopathy", "negated": None, }, ], diff --git a/backend/tests/fixtures/autocomplete.py b/backend/tests/fixtures/autocomplete.py index 375d12bb1..98ce12c35 100644 --- a/backend/tests/fixtures/autocomplete.py +++ b/backend/tests/fixtures/autocomplete.py @@ -6,7 +6,7 @@ def autocomplete(): return { "limit": 10, "offset": 0, - "total": 319, + "total": 320, "items": [ { "id": "MONDO:0009215", @@ -42,16 +42,14 @@ def autocomplete(): "iri": None, "namespace": "MONDO", "has_phenotype": [ + "HP:0000086", "HP:0001875", + "HP:0009777", "HP:0001249", - "HP:0000086", - "HP:0001000", "HP:0000252", - "HP:0000081", - "HP:0003214", - "HP:0003251", + "HP:0001627", + "HP:0000957", "HP:0000815", - "HP:0009777", "HP:0001017", "HP:0000104", "HP:0003974", @@ -63,31 +61,31 @@ def autocomplete(): "HP:0000568", "HP:0001518", "HP:0003221", + "HP:0001000", "HP:0009943", - "HP:0001627", "HP:0000978", "HP:0030680", "HP:0001903", - "HP:0000957", "HP:0001909", "HP:0012210", + "HP:0000081", "HP:0000085", "HP:0004322", "HP:0000486", "HP:0000365", + "HP:0003214", "HP:0003213", + "HP:0003251", ], "has_phenotype_label": [ + "Ectopic kidney", "Neutropenia", + "Absent thumb", "Intellectual disability", - "Ectopic kidney", - "Abnormality of skin pigmentation", "Microcephaly", - "Duplicated collecting system", - "Prolonged G2 phase of cell cycle", - "Male infertility", + "Abnormal heart morphology", + "Cafe-au-lait spot", "Hypergonadotropic hypogonadism", - "Absent thumb", "Anemic pallor", "Renal agenesis", "Absent radius", @@ -99,1589 +97,1591 @@ def autocomplete(): "Microphthalmia", "Small for gestational age", "Chromosomal breakage induced by crosslinking agents", + "Abnormality of skin pigmentation", "Complete duplication of thumb phalanx", - "Abnormal heart morphology", "Bruising susceptibility", "Abnormality of cardiovascular system morphology", "Anemia", - "Cafe-au-lait spot", "Leukemia", "Abnormal renal morphology", + "Duplicated collecting system", "Horseshoe kidney", "Short stature", "Strabismus", "Hearing impairment", + "Prolonged G2 phase of cell cycle", "Deficient excision of UV-induced pyrimidine dimers in DNA", + "Male infertility", ], "has_phenotype_closure": [ "HP:0003254", + "HP:0003213", + "UPHENO:0049964", + "UPHENO:0051124", "GO:0051716", - "UPHENO:0049671", - "GO:0006974", + "GO:0006950", + "GO:0051319", + "GO:0007049", + "GO:0050954", + "HP:0000598", + "GO:0007605", + "UPHENO:0050625", "HP:0000364", + "UPHENO:0005518", "UPHENO:0052970", "UBERON:0002105", - "UPHENO:0005518", - "UPHENO:0002240", - "UBERON:0000015", + "NBO:0000338", "UPHENO:0049586", - "HP:0000496", + "HP:0000708", + "UPHENO:0049622", + "GO:0007610", + "HP:0000486", + "UBERON:0006800", "BFO:0000141", - "NBO:0000001", - "NBO:0000338", + "HP:0000549", + "HP:0000496", + "NBO:0000444", + "UBERON:0010222", "UPHENO:0079828", + "UPHENO:0080585", + "GO:0050896", + "HP:0011018", + "UBERON:0000015", + "UBERON:0000466", + "UPHENO:0081424", + "UPHENO:0000543", + "UPHENO:0081423", "UPHENO:0080351", "UPHENO:0075159", - "UPHENO:0080352", + "UPHENO:0041226", + "HP:0000085", + "UPHENO:0082444", + "GO:0007600", "UPHENO:0041075", - "UPHENO:0041465", "UPHENO:0082129", "UPHENO:0041629", - "UPHENO:0079826", - "UPHENO:0080300", - "HP:0002664", - "HP:0011793", + "UPHENO:0041465", + "HP:0000081", + "UPHENO:0075787", + "HP:0001909", "HP:0004377", - "UPHENO:0059829", - "HP:0001510", - "HP:0011355", - "HP:0000953", - "HP:0007400", - "HP:0012733", - "UPHENO:0081424", - "UPHENO:0074572", - "HP:0000957", - "UPHENO:0074575", - "UPHENO:0060026", - "GO:0003013", + "HP:0011793", + "HP:0002664", "UBERON:0000477", - "UBERON:0002049", "GO:0008015", + "HP:0001892", + "HP:0011029", + "HP:0002597", + "UPHENO:0002678", + "GO:0003013", + "HP:0000978", "UPHENO:0051097", "HP:0001933", - "UPHENO:0002678", - "UBERON:0005178", - "UBERON:0015410", - "UPHENO:0076776", - "UPHENO:0080362", - "UPHENO:0080221", - "UBERON:0002075", - "UBERON:0005181", - "UPHENO:0076810", - "HP:0011029", - "HP:0030680", - "UPHENO:0021800", - "HP:0001034", - "HP:0009997", - "UPHENO:0080662", - "UBERON:0001436", - "HP:0009942", - "UBERON:0012150", - "UBERON:0012358", + "UBERON:0007798", + "UPHENO:0084447", + "HP:0009602", + "UBERON:0003221", + "UBERON:0012357", + "HP:0011314", + "HP:0009943", + "UBERON:0015023", "UBERON:0015024", "UBERON:5101463", - "UPHENO:0020041", + "UPHENO:0087369", + "HP:0009942", + "UPHENO:0021800", + "GO:0022403", "UBERON:0004249", - "UBERON:0003620", + "UBERON:5106048", "UBERON:5102389", "UBERON:0010688", - "UBERON:0012151", - "HP:0004275", - "GO:0010558", - "GO:0019222", - "GO:0006139", - "GO:0007605", - "GO:0046483", - "GO:0006725", - "GO:0034641", - "HP:0040012", - "UPHENO:0050845", - "UPHENO:0049990", - "UPHENO:0049873", - "GO:0031049", - "UBERON:0010543", - "GO:0065007", - "UPHENO:0049748", - "UPHENO:0049700", - "GO:0071840", - "UBERON:0010222", "GO:0010556", - "GO:0016043", + "GO:0031326", "GO:0009890", + "HP:0011276", + "UBERON:0005897", "GO:0010605", + "GO:0031324", + "GO:0006259", + "GO:0071824", + "GO:0065007", + "UPHENO:0080581", + "UPHENO:0050021", + "GO:0010629", + "GO:0051325", "GO:0060255", - "UPHENO:0054970", - "GO:0048523", + "GO:0009889", + "GO:0031323", + "UBERON:0004100", + "GO:0009892", + "UBERON:0012150", "GO:0090304", - "GO:0006996", - "GO:0043933", + "UPHENO:0050116", + "HP:0003221", + "UPHENO:0049990", + "UPHENO:0050121", + "GO:0005623", + "UPHENO:0049700", + "UPHENO:0000541", + "UBERON:0001436", + "GO:0010468", + "NBO:0000313", + "GO:0010558", + "GO:0031327", + "GO:0006325", + "GO:0019222", + "HP:0011354", + "GO:0006139", + "GO:0046483", + "HP:0001939", + "UPHENO:0050845", + "HP:0003220", "GO:0050789", "GO:0044238", + "HP:0031704", "GO:0006807", "GO:0071704", - "HP:0004322", - "HP:0001627", - "GO:0010629", + "UPHENO:0049873", + "GO:0008152", + "HP:0000365", + "GO:0009987", + "UPHENO:0050113", + "GO:0031052", + "GO:0040007", + "UPHENO:0049874", + "UBERON:0010543", + "HP:0001507", "UPHENO:0082794", - "UBERON:0015228", - "HP:0001518", "UPHENO:0010763", - "GO:0040007", - "HP:0004325", - "HP:0005918", "UPHENO:0054299", - "UBERON:0001444", + "GO:0006974", + "HP:0004323", + "UPHENO:0010795", + "UPHENO:0020041", + "HP:0000271", + "UPHENO:0069523", + "UBERON:0000020", + "UPHENO:0087472", + "GO:0033554", + "UBERON:0000970", + "UBERON:0001456", + "UBERON:0004088", + "HP:0000568", + "UBERON:0004456", + "UPHENO:0075219", + "UBERON:0000047", + "UBERON:0010230", "UBERON:0000019", "HP:0008056", "UPHENO:0087924", - "GO:0050954", - "UBERON:0004456", + "HP:0100887", + "HP:0000478", + "UPHENO:0002910", + "HP:0011025", + "HP:0000315", "UPHENO:0080209", - "HP:0000568", - "UBERON:0001032", - "UPHENO:0075219", - "UPHENO:0080585", - "UPHENO:0075997", - "HP:0001626", - "UBERON:0004088", - "UPHENO:0049622", - "UPHENO:0088148", - "UPHENO:0085263", - "HP:0004323", - "HP:0009381", - "HP:0011927", - "UPHENO:0012541", - "UPHENO:0046624", - "UPHENO:0046411", - "UPHENO:0088186", - "UBERON:0005897", - "UPHENO:0085873", - "UPHENO:0080382", - "HP:0008669", - "GO:0007283", - "GO:0007276", - "UPHENO:0020950", - "UPHENO:0050108", - "UPHENO:0041821", - "UPHENO:0002595", - "CL:0000019", - "UPHENO:0049985", - "UPHENO:0012274", - "UPHENO:0087547", - "UPHENO:0021474", - "HP:0000811", - "UBERON:0004053", - "UPHENO:0049970", - "UBERON:0000473", - "CL:0000039", - "CL:0000413", - "UPHENO:0086023", - "HP:0012243", - "UPHENO:0049964", - "GO:0031326", - "CL:0000558", - "HP:0000035", - "UPHENO:0086198", - "UPHENO:0085875", - "CL:0000015", - "UBERON:0003101", - "GO:0032502", - "GO:0022414", - "GO:0000003", - "UPHENO:0052231", - "GO:0032504", - "HP:0009778", - "HP:0000812", + "HP:0001896", "HP:0004312", - "UPHENO:0050101", - "UPHENO:0005016", - "UPHENO:0078729", - "UPHENO:0087369", - "UPHENO:0021561", - "HP:0000598", - "CL:0000586", - "GO:0006281", - "GO:0048232", - "GO:0003006", - "HP:0009602", - "GO:0048609", - "HP:0000025", - "UPHENO:0085194", - "UPHENO:0002371", - "GO:0007600", - "HP:0012874", - "UBERON:0003135", - "UBERON:0000079", - "UPHENO:0002597", - "GO:0010468", - "HP:0010461", - "UPHENO:0087973", - "UPHENO:0085070", - "CL:0001035", - "UPHENO:0080581", - "UPHENO:0002598", - "CL:0000151", - "HP:0012145", - "UPHENO:0084987", - "GO:0006950", - "GO:0031327", - "HP:0001872", - "UBERON:0000479", - "GO:0031324", - "UPHENO:0086173", - "HP:0005561", - "CL:0000458", - "UBERON:0015063", - "UPHENO:0086049", - "HP:0011875", - "HP:0001873", - "GO:1901360", - "HP:0011873", - "HP:0001876", - "HP:0000315", - "CL:0002092", + "UPHENO:0086002", + "UPHENO:0049588", + "CL:0000558", + "UPHENO:0046505", + "HP:0009381", + "UPHENO:0012541", + "UPHENO:0002433", "CL:0000233", - "HP:0003953", - "UBERON:0003460", - "UBERON:0001423", - "UPHENO:0025945", - "UPHENO:0080377", - "UPHENO:0085874", - "UBERON:0002495", - "UPHENO:0080187", - "UPHENO:0081511", - "UPHENO:0052778", - "UPHENO:0079872", - "UPHENO:0078452", - "UBERON:0003466", - "UBERON:0008962", - "HP:0002597", - "UBERON:0003606", - "UPHENO:0076941", - "UBERON:0015001", - "UBERON:0002386", - "UPHENO:0002751", - "UPHENO:0026128", - "HP:0003974", - "HP:0040072", - "UBERON:5102544", - "UBERON:0002113", - "UBERON:0015021", - "UBERON:0011584", - "HP:0002973", - "UBERON:0000948", - "GO:0048519", - "UBERON:0002090", - "UBERON:0000991", - "HP:0040070", - "HP:0006503", - "HP:0003214", - "UPHENO:0087501", - "UPHENO:0086633", - "UPHENO:0087510", - "UBERON:0004765", - "UPHENO:0026980", - "UPHENO:0008593", + "GO:0008150", + "UPHENO:0020888", + "UBERON:0015061", "UBERON:0003129", - "UPHENO:0025211", - "CL:0000408", - "CL:0000329", - "GO:0019953", - "CL:0000764", - "HP:0012373", - "CL:0000232", - "UBERON:0004054", + "UPHENO:0026506", + "UPHENO:0080325", + "UPHENO:0002642", + "UBERON:0015203", + "NCBITaxon:2759", + "UPHENO:0084448", + "UBERON:0012139", + "UPHENO:0082761", + "CL:0000738", + "HP:0000027", + "NBO:0000001", + "UBERON:0034925", + "UPHENO:0088176", + "UPHENO:0026183", + "UPHENO:0002905", + "UPHENO:0076723", + "UBERON:0010363", + "HP:0002977", + "HP:0009777", + "UBERON:0010708", + "UBERON:0002204", "UPHENO:0086700", - "UPHENO:0078606", - "HP:0011991", - "UPHENO:0002896", + "UPHENO:0086019", + "UBERON:0019221", + "GO:0044848", + "UBERON:0001460", + "UBERON:0002513", + "UBERON:0011138", + "GO:0022414", + "UPHENO:0076727", + "HP:0005927", + "UBERON:0003101", "HP:0045060", - "UBERON:0010707", - "CL:0000457", - "UBERON:0004708", - "CL:0000988", + "UPHENO:0086633", + "UBERON:0006717", + "UPHENO:0001003", + "UPHENO:0076810", + "HP:0009815", + "UPHENO:0080352", + "UBERON:0000075", + "CL:0000775", + "UPHENO:0088186", + "UBERON:0011582", + "GO:0006996", + "HP:0008678", + "UPHENO:0085263", + "UPHENO:0052178", + "CL:0000225", + "UBERON:0001440", + "HP:0009380", + "UPHENO:0060026", + "UPHENO:0002378", + "GO:0003008", + "UBERON:0010538", "HP:0001167", - "UBERON:0010740", - "UBERON:5001463", - "HP:0009998", - "HP:0100887", - "UBERON:0005177", - "UBERON:0002529", "HP:0040064", - "HP:0009380", - "UPHENO:0009341", - "UPHENO:0084448", - "HP:0009115", - "HP:0002817", - "UBERON:0010363", - "UPHENO:0076740", - "UPHENO:0049587", - "UBERON:0002470", - "UPHENO:0051124", - "UPHENO:0069254", - "UBERON:0004710", - "UBERON:0008785", - "HP:0001892", - "UBERON:0001440", - "UPHENO:0002905", - "HP:0003251", - "UPHENO:0080325", - "UBERON:0004381", + "UPHENO:0008523", + "UPHENO:0087518", + "OBI:0100026", + "UPHENO:0080300", + "UPHENO:0009382", + "UBERON:0004708", + "UPHENO:0085068", + "UPHENO:0021474", + "UBERON:5001463", "UBERON:0012140", - "UPHENO:0086635", - "UPHENO:0026183", - "UBERON:0011676", - "UPHENO:0084766", - "UBERON:0002097", - "HP:0007364", - "UPHENO:0002830", - "UPHENO:0002880", - "HP:0000240", - "HP:0001172", - "UBERON:0002091", - "UBERON:0004176", - "UBERON:0002428", - "UBERON:0007272", - "UPHENO:0005651", - "UPHENO:0053588", - "UBERON:0002102", - "UPHENO:0050021", - "UPHENO:0002964", - "UBERON:0002544", - "UPHENO:0085144", - "UPHENO:0086956", - "HP:0002977", - "UBERON:5002389", - "UPHENO:0018390", - "UBERON:0010708", - "HP:0000002", - "HP:0011842", - "HP:0001017", - "UPHENO:0088321", - "UPHENO:0076724", - "HP:0000478", - "UPHENO:0026028", - "HP:0001155", - "UPHENO:0049940", - "NCBITaxon:1", - "UPHENO:0008523", - "UPHENO:0087006", + "UBERON:0005451", + "UBERON:0019231", + "UPHENO:0002844", + "BFO:0000015", + "UPHENO:0049587", + "UBERON:0000026", + "UPHENO:0049952", + "HP:0040068", + "UPHENO:0002708", + "UBERON:0012141", + "HP:0012759", + "UBERON:0002097", + "UBERON:0003135", + "HP:0009822", + "UBERON:0002428", + "UPHENO:0054957", + "UBERON:0007272", + "GO:0050890", + "UBERON:0000073", + "GO:0034641", + "HP:0000929", + "HP:0010461", + "UBERON:0000153", + "GO:0043933", + "UPHENO:0002896", + "UBERON:0001434", + "UPHENO:0050008", + "HP:0006496", + "HP:0009778", + "UPHENO:0081435", + "PATO:0000001", + "UPHENO:0002832", + "GO:0032502", + "HP:0032251", + "HP:0012638", + "UPHENO:0049367", + "UPHENO:0075997", "UBERON:0002371", - "HP:0000077", - "UPHENO:0080114", - "UBERON:0001474", - "CL:0000255", - "HP:0000818", - "UPHENO:0050625", - "UPHENO:0074589", - "UPHENO:0066927", - "UPHENO:0082761", - "HP:0000144", - "UBERON:0000990", - "GO:0007610", - "UBERON:0002199", - "UBERON:5002544", - "UPHENO:0000541", - "UPHENO:0087339", - "UPHENO:0075220", - "UPHENO:0003055", - "PR:000050567", - "HP:0000080", - "UBERON:0006800", - "GO:0006325", - "CL:0002242", - "HP:0000078", - "UPHENO:0053644", + "UPHENO:0049671", "HP:0009601", - "GO:0051319", - "GO:0051325", - "GO:0044848", - "UPHENO:0000543", - "UPHENO:0050116", - "UBERON:0002471", - "UBERON:0010323", - "UPHENO:0076718", - "GO:0009987", - "HP:0011018", - "UBERON:0010000", - "GO:0007049", - "UPHENO:0050121", - "HP:0025461", - "UPHENO:0004523", - "GO:0005623", - "HP:0004742", - "UBERON:0001456", - "UPHENO:0075787", - "NCBITaxon:33208", - "UPHENO:0085302", - "UBERON:0010314", - "GO:0006259", - "OBI:0100026", - "UPHENO:0086589", - "HP:0011028", - "UBERON:0011250", - "UPHENO:0049367", - "UPHENO:0022529", - "UBERON:0012139", - "UBERON:0010703", - "UBERON:0015023", - "UPHENO:0010795", - "UBERON:0003607", - "UPHENO:0087518", - "UPHENO:0076805", + "HP:0012373", + "HP:0100542", + "UBERON:0000916", "UPHENO:0084763", - "UPHENO:0088166", "HP:0010935", - "UBERON:0002398", - "GO:0033554", - "UPHENO:0009382", - "UBERON:0004100", - "HP:0000234", - "UPHENO:0085356", - "HP:0000980", - "HP:0100547", - "NCBITaxon:6072", - "UBERON:0007811", - "HP:0011121", - "HP:0008373", - "UBERON:0002204", - "UPHENO:0002910", - "HP:0002011", - "HP:0009121", - "UPHENO:0075195", - "UPHENO:0002764", - "UPHENO:0009399", + "UPHENO:0088148", + "UPHENO:0049940", + "UPHENO:0085984", + "UBERON:0005173", + "UBERON:0005177", + "UBERON:0002049", + "UBERON:0001016", + "HP:0011446", + "UPHENO:0084766", + "UBERON:0015212", + "BFO:0000040", + "BFO:0000004", + "UBERON:8450002", + "UPHENO:0053644", + "UPHENO:0085195", + "UBERON:0010000", + "UBERON:0002390", + "UBERON:0011250", + "UPHENO:0086176", "UBERON:0010758", - "UBERON:0000075", - "UBERON:0000020", - "UPHENO:0076799", - "UBERON:0012141", - "UPHENO:0080126", - "UBERON:0005172", - "HP:0000252", + "UPHENO:0087846", + "UBERON:5006048", + "UBERON:0003133", + "UBERON:0003103", + "HP:0020047", + "GO:0007276", + "HP:0005561", + "HP:0010987", + "HP:0011893", + "HP:0000001", + "UPHENO:0074584", + "UBERON:0001442", + "GO:0032501", + "UBERON:0013701", + "HP:0009998", + "GO:0016043", + "UPHENO:0015280", + "UPHENO:0075902", "HP:0001881", - "HP:0000079", - "RO:0002577", - "HP:0006265", + "UBERON:0001008", + "UBERON:0011249", + "HP:0001874", + "UPHENO:0076692", + "UPHENO:0002536", + "UBERON:0012151", + "HP:0011017", + "NCBITaxon:33208", + "CL:0000081", + "UPHENO:0002598", + "UPHENO:0063722", + "UBERON:0002398", + "UBERON:0009569", + "UPHENO:0088335", + "HP:0000924", "UBERON:0004121", - "UBERON:0000955", - "UBERON:0015025", - "CL:0000300", - "HP:0008678", - "HP:0000708", - "UBERON:0001968", + "GO:0043170", + "HP:0011961", + "UPHENO:0077426", + "HP:0009997", + "HP:0001875", + "UPHENO:0076724", "UPHENO:0081451", - "UPHENO:0046505", - "UPHENO:0020888", - "UPHENO:0081435", - "HP:0002060", - "UPHENO:0008668", - "UBERON:0003221", - "UPHENO:0066972", - "UBERON:0005944", - "UBERON:0034925", - "UPHENO:0081466", - "UPHENO:0076703", - "NCBITaxon:33154", - "UBERON:0012475", - "UBERON:0000915", - "UPHENO:0088318", - 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"UPHENO:0086005", + "UBERON:0004053", + "UPHENO:0008668", + "UPHENO:0068971", + "UPHENO:0046411", + "HP:0004325", + "UPHENO:0031839", + ], + "has_phenotype_closure_label": [ + "Decreased fertility in males", + "Decreased fertility", + "DNA repair", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "abnormal response to stress", + "abnormal cellular response to stress", "abnormal DNA repair", + "response to stress", + "cell cycle phase", + "Abnormality of the cell cycle", + "G2 phase", + "decreased qualitatively sensory perception of mechanical stimulus", + "decreased sensory perception of sound", + "abnormal ear", + "abnormal sensory perception", "Hearing abnormality", - "non-material anatomical boundary", - "abnormal behavior", - "response to stimulus", - "eye movement", + "ear", + "sensory perception of sound", + "body part movement", "anatomical line", + "immaterial anatomical entity", + "Strabismus", "abnormal response to stimulus", - "Abnormality of eye movement", - "Abnormal eye physiology", - "abnormality of camera-type eye physiology", - "abnormal behavior process", - "abnormal size of multicellular organism", - "decreased height of the anatomical entity", - "decreased size of the multicellular organism", - "abnormality of anatomical entity height", - "delayed growth", - "Growth delay", + "response to stimulus", + "behavior process", + "abnormal eye movement", + "eye movement", + "behavior", + "delayed biological_process", + "Short stature", "Abnormality of body height", + "abnormal DNA damage response", + "delayed growth", + "abnormal size of multicellular organism", "decreased height of the multicellular organism", "abnormality of multicellular organism height", - "abnormal shape of continuant", + "Abnormality of eye movement", "concave 3-D shape anatomical entity", + "shape anatomical entity", "Horseshoe kidney", "3-D shape anatomical entity", - "shape anatomical entity in independent continuant", - "ear", - "Neoplasm by anatomical site", - "delayed biological_process", - "Irregular hyperpigmentation", - "Hypermelanotic macule", - "increased pigmentation in independent continuant", - "Hyperpigmentation of the skin", - "increased qualitatively biological_process in independent continuant", - "abnormal response to stress", - "Cafe-au-lait spot", - "abnormal biological_process in independent continuant", - "increased qualitatively biological_process", - "Localized skin lesion", - "vasculature", + "U-shaped anatomical entity", + "Neoplasm", + "Hematological neoplasm", + "Generalized abnormality of skin", "Internal hemorrhage", - "abnormality of cardiovascular system physiology", "Abnormality of the vasculature", - "Abnormal cardiovascular system physiology", - "circulatory system process", - "cardiovascular system", - "Strabismus", - "circulatory organ", - "thoracic segment organ", + "blood circulation", + "Vascular skin abnormality", + "Abnormality of blood circulation", + "vasculature", + "abnormality of cardiovascular system physiology", + "Abnormal bleeding", + "Bruising susceptibility", + "Subcutaneous hemorrhage", "vascular system", - "thoracic segment of trunk", - "heart plus pericardium", - "Abnormality of cardiovascular system morphology", - "abnormal cardiovascular system", - "primary circulatory organ", - "Complete duplication of phalanx of hand", - "Duplication of hand bones", - "manual digit digitopodial skeleton", - "skeleton of manual acropodium", - "Abnormal long bone morphology", + "abnormal anatomical entity morphology in the skeleton of manus", "Abnormality of thumb phalanx", - "Abnormal finger phalanx morphology", - "sensory perception of sound", - "abnormal phalanx of manus morphology", + "manual digitopodium bone", + "Duplication of bones involving the upper extremities", "phalanx", - "digitopodium bone", - "U-shaped anatomical entity", - "manual digit 1 phalanx endochondral element", + "phalanx endochondral element", + "manual digit phalanx endochondral element", + "abnormal phalanx morphology", + "abnormal phalanx of manus morphology", "Duplication of phalanx of hand", - "individual digit of digitopodial skeleton", - "Duplication of thumb phalanx", - "biological regulation", + "acropodial skeleton", + "manual digit bone", + "digit 1 digitopodial skeleton", + "manual digit digitopodial skeleton", + "digitopodium bone", + "skeleton of manual acropodium", "abnormal primary metabolic process", - "Leukemia", + "Abnormality of metabolism/homeostasis", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "vestibulo-auditory system", + "protein-DNA complex organization", + "Abnormality of DNA repair", + "abnormal organelle organization", + "regulation of biosynthetic process", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process", + "protein-containing complex organization", + "regulation of biological process", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", + "abnormal cellular component organization", + "Chromosome breakage", + "negative regulation of gene expression", + "abnormal metabolic process", + "cellular response to stimulus", "Chromosomal breakage induced by crosslinking agents", - "organic substance metabolic process", + "metabolic process", + "cellular process", + "abnormal DNA metabolic process", + "decreased height of the anatomical entity", "regulation of cellular process", - "regulation of metabolic process", - "Vascular skin abnormality", "negative regulation of biological process", - "Generalized abnormality of skin", "nucleobase-containing compound metabolic process", "organic cyclic compound metabolic process", + "Duplicated collecting system", + "macromolecule metabolic process", "obsolete heterocycle metabolic process", - "immaterial entity", "obsolete cellular aromatic compound metabolic process", "obsolete cellular nitrogen compound metabolic process", - "response to stress", "cellular component organization", - "regulation of biosynthetic process", - "regulation of cellular metabolic process", - "negative regulation of cellular process", - "organelle organization", - "regulation of gene expression", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", "negative regulation of macromolecule biosynthetic process", "negative regulation of cellular biosynthetic process", - "programmed DNA elimination", - "cellular metabolic process", - "negative regulation of gene expression", - "Chromosome breakage", - "regulation of cellular biosynthetic process", - "negative regulation of biosynthetic process", - "negative regulation of macromolecule metabolic process", - "negative regulation of cellular metabolic process", - "DNA metabolic process", - "decreased multicellular organism mass", - "growth", - "increased biological_process in skin of body", + "chromatin organization", + "abnormal chromatin organization", "abnormal growth", - "Hearing impairment", - "Decreased body weight", - "Small for gestational age", "Decreased multicellular organism mass", - "visual system", - "manual digit 1 phalanx", - "chromatin organization", + "abnormality of multicellular organism mass", + "abnormal cell cycle", + "Duplication of thumb phalanx", + "abnormality of anatomical entity mass", + "decreased anatomical entity mass", + "abnormal size of eyeball of camera-type eye", + "abnormal face morphology", + "Abnormal eye morphology", + "abnormal orbital region", + "Abnormality of the face", + "simple eye", "sensory system", - "eye", - "face", - "orbital region", - "Aplasia/Hypoplasia affecting the eye", - "Microphthalmia", - "subdivision of head", - "entire sense organ system", - "abnormal pigmentation in independent continuant", - "abnormal eyeball of camera-type eye", - "changed biological_process rate in independent continuant", + "Abnormality of the eye", + "abnormal face", + "sense organ", "eyeball of camera-type eye", "camera-type eye", - "negative regulation of metabolic process", + "Microphthalmia", + "orbital region", + "Abnormality of the orbital region", + "abnormal eyeball of camera-type eye", "abnormal camera-type eye morphology", - "Abnormality of globe size", - "Abnormality of the eye", - "primary metabolic process", - "abnormal enucleated reticulocyte morphology", - "abnormal vasculature", - "Abnormal reticulocyte morphology", - "Complete duplication of thumb phalanx", - "abnormal number of anatomical enitites of type reticulocyte", - "anatomical line between pupils", + "decreased size of the eyeball of camera-type eye", + "visual system", "abnormally decreased number of reticulocyte", - "Short finger", - "decreased size of the anatomical entity in the pectoral complex", - "decreased size of the anatomical entity in the independent continuant", - "decreased length of manual digit", - "sensory perception", - "decreased length of anatomical entity", - "decreased length of manual digit 1", - "Short digit", - "autopod endochondral element", - "autopod bone", - "phalanx of manus", - "decreased length of anatomical entity in independent continuant", - "decreased length of digit", - "decreased size of the anatomical entity", - "abnormal number of anatomical enitites of type sperm", - "abnormality of male reproductive system physiology", - "gamete", - "semen", - "developmental process", - "abnormal pigmentation", - "reproductive process", - "Abnormal internal genitalia", - "Abnormal testis morphology", - "developmental process involved in reproduction", + "reticulocyte", "multicellular organismal reproductive process", - "abnormal reproductive process", - "decreased qualitatively developmental process", - "absent anatomical entity in the semen", - "gamete generation", - "abnormal male reproductive system morphology", - "spermatogenesis", - "absent sperm", - "abnormally localised testis", - "abnormal multicellular organismal reproductive process", - "absent gamete", - "manual digit bone", - "decreased spermatogenesis", - "abnormal male reproductive system", - "abnormal metabolic process", - "changed biological_process rate", - "decreased qualitatively sensory perception of sound", - "absent sperm in the semen", - "obsolete multicellular organism reproduction", - "Azoospermia", - "Abnormality of the male genitalia", - "sperm", - "external genitalia", - "anatomical cluster", - "internal genitalia", - "abnormal reproductive system morphology", - "decreased qualitatively biological_process", - "Abnormal spermatogenesis", - "abnormal internal genitalia", - "external male genitalia", - "abnormal external male genitalia", - "decreased qualitatively reproductive process", - "decreased developmental process", - "abnormal developmental process", - "abnormality of internal male genitalia physiology", - "abnormal gamete generation", - "abnormal heart morphology", - "abnormal external genitalia", - "abnormal developmental process involved in reproduction", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "abnormal orbital region", - "bone marrow cell", - "obsolete nitrogen compound metabolic process", - "platelet", - "biogenic amine secreting cell", - "Short thumb", - "germ line cell", - "bone cell", - "sexual reproduction", - "anucleate cell", - "abnormal male reproductive organ morphology", - "bone marrow", - "secretory cell", - "manual digit phalanx endochondral element", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", - "abnormal bone marrow cell morphology", - "Abnormality of bone marrow cell morphology", - "decreased biological_process", - "serotonin secreting cell", - "Abnormal platelet morphology", - "abnormally decreased number of platelet", - "tissue", - "abnormal platelet", + "Non-obstructive azoospermia", + "axial skeleton plus cranial skeleton", + "abnormality of anatomical entity physiology", "abnormal hematopoietic system morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal blood cell morphology", - "male gamete generation", - "zeugopodial skeleton", - "aplastic forelimb zeugopod bone", - "absent forelimb zeugopod bone", - "sensory perception of mechanical stimulus", - "Aplasia involving forearm bones", - "abnormal limb long bone morphology", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "vestibulo-auditory system", - "absent germ cell", - "forelimb endochondral element", - "abnormal forelimb zeugopod bone", - "body part movement", - "absent radius bone in the forelimb", - "manual digit 1 digitopodial skeleton", - "abnormal forelimb zeugopod morphology", - "abnormal long bone morphology", - "Abnormal forearm bone morphology", - "behavior process", - "Aplasia/hypoplasia involving forearm bones", - "enucleated reticulocyte", - "quality", - "forelimb zeugopod bone", - "Atypical behavior", + "Abnormality of mental function", + "abnormal cardiovascular system morphology", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "Duplication of hand bones", + "abnormal nitrogen compound metabolic process", + "nervous system process", + "system process", + "Male infertility", + "abnormal limb morphology", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "organ", + "cellular response to stress", + "appendicular skeleton", + "upper limb segment", + "appendicular skeletal system", + "arm", + "endochondral bone", + "subdivision of skeleton", + "Abnormal cardiovascular system physiology", "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "abnormally decreased number of myeloid cell in the independent continuant", - "limb long bone", - "radius bone", - "long bone", - "abnormal blood circulation", - "bone of free limb or fin", - "Abnormal morphology of the radius", - "Absent forearm bone", - "shape kidney", - "abnormally decreased number of anatomical entity", - "Hypogonadism", - "Abnormal forearm morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "absent kidney in the renal system", - "absent kidney", - "Anemia", - "abnormal erythroid lineage cell morphology", - "nucleic acid metabolic process", - "Absent radius", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "abnormal DNA metabolic process", - "abnormal chromatin organization", - "forelimb", - "abnormal anatomical entity morphology in the skeleton of manus", + "entity", + "negative regulation of cellular process", + "abnormal limb", + "manus", + "head", + "abnormal digit", + "thoracic segment of trunk", + "Abnormal appendicular skeleton morphology", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "system", + "aplasia or hypoplasia of manual digit 1", + "bone of appendage girdle complex", + "Abnormal finger phalanx morphology", + "pigmentation", + "genitourinary system", + "decreased qualitatively reproductive process", + "abnormal limb bone morphology", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal number of anatomical enitites of type granulocyte", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", "autopodial skeleton", - "abnormal anatomical entity", - "motile cell", + "occurrent", + "abnormal male reproductive organ morphology", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "abnormal autopod region morphology", + "Absent thumb", + "paired limb/fin skeleton", + "Neurodevelopmental abnormality", + "subdivision of organism along appendicular axis", + "Abnormal male reproductive system physiology", + "digit plus metapodial segment", + "Cognitive impairment", + "abnormal male reproductive system", "paired limb/fin", - "abnormal anatomical entity morphology in the manus", - "pectoral appendage", - "abnormal anatomical entity morphology in the pectoral complex", - "central nervous system", - "absent anatomical entity", + "anatomical collection", + "All", + "increased qualitatively biological_process", + "Aplasia involving bones of the extremities", + "forelimb", + "Abnormal forebrain morphology", + "abnormal digit morphology", "abnormal manus", - "Finger aplasia", - "digitopodium region", "multi-limb segment region", - "abnormal immune system morphology", - "radius endochondral element", - "trunk", + "endochondral element", + "bone element", + "Abnormality of the ear", + "abnormally decreased number of leukocyte", + "digit", + "Hyperpigmentation of the skin", + "manual digit plus metapodial segment", + "abnormal skeletal system", "digit 1 plus metapodial segment", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "male reproductive system", - "abnormal cell morphology", - "limb bone", - "abnormal arm", - "Abnormality of skull size", + "limb", + "Neoplasm by anatomical site", + "Decreased anatomical entity mass", + "Abnormality of the upper limb", + "cell", + "absent anatomical entity in the renal system", + "skeleton", + "male gamete generation", + "absent anatomical entity", + "regulation of metabolic process", + "Decreased body weight", + "autopodial extension", + "manual digit 1", + "abnormal immune system morphology", + "skeletal system", + "motile cell", + "Abnormality of limbs", + "Abnormality of limb bone morphology", "Abnormal digit morphology", + "multicellular organismal process", + "Aplasia/hypoplasia involving forearm bones", + "segment of manus", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal cellular metabolic process", + "musculoskeletal system", + "abnormal upper urinary tract", + "abnormally decreased number of myeloid cell", + "aplastic anatomical entity", + "face", "aplasia or hypoplasia of manual digit", - "Abnormal platelet count", - "absent anatomical entity in the skeletal system", - "abnormal forelimb morphology", - "autopodial extension", - "abnormal platelet morphology", - "Abnormality of reproductive system physiology", - "digit plus metapodial segment", - "erythrocyte", - "abnormal limb bone morphology", - "Aplasia/hypoplasia involving bones of the hand", - "G2 phase", - "manual digitopodium region", - "skeleton of digitopodium", - "skeleton of pectoral complex", - "abnormal appendicular skeleton morphology", - "Eumetazoa", - "segment of autopod", - "Abnormality of thrombocytes", - "forelimb bone", - "shape anatomical entity", - "Subcutaneous hemorrhage", - "regional part of nervous system", - "abnormal head", - "digit 1", - "Abnormal erythroid lineage cell morphology", - "male reproductive organ", - "reproductive structure", - "cell cycle", - "abnormal reproductive system", - "manual digit 1 or 5", - "Aplasia involving bones of the upper limbs", - "system", - "subdivision of organism along main body axis", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the hand", - "Abnormal hand morphology", - "abnormal manual digit morphology in the independent continuant", - "aplasia or hypoplasia of skeleton", + "Aplasia/hypoplasia of the extremities", "forelimb skeleton", - "Intellectual disability", - "absent manual digit", - "digit 1 or 5", - "arm", - "Short stature", - "Abnormality of limb bone", - "abnormal size of eyeball of camera-type eye", - "abnormal face", - "aplastic anatomical entity", - "abnormal eye movement", - "subdivision of organism along appendicular axis", - "cellular response to stress", - "absent anatomical entity in the independent continuant", - "agenesis of anatomical entity", - "bone of appendage girdle complex", - "manual digit", - "Abnormality of limb bone morphology", - "glandular system", - "skull", "endocrine system", - "abnormal endocrine system", - "Abnormality of the cell cycle", - "Abnormal appendicular skeleton morphology", - "renal system", + "abnormally decreased functionality of the anatomical entity", + "agenesis of anatomical entity", + "abnormal anatomical entity morphology in the manus", + "cardiovascular system", + "acropodium region", + "Intellectual disability", + "bone marrow", + "skeleton of manus", + "skeleton of limb", + "Abnormality of skin pigmentation", + "Aplasia involving forearm bones", + "anatomical system", + "material anatomical entity", "Hypergonadotropic hypogonadism", - "reproductive organ", - "increased pigmentation", - "decreased anatomical entity mass", - "anatomical entity dysfunction in independent continuant", - "Male infertility", - "endochondral bone", - "abnormal limb bone", - "abnormally decreased functionality of the gonad", - "Infertility", - "digit 1 digitopodial skeleton", - "gonad", - "regional part of brain", - "abnormality of reproductive system physiology", - "heart", - "upper limb segment", - "Abnormality of the genital system", - "increased pigmentation in skin of body", - "manual digit 1", - "cellular process", - "Abnormality of metabolism/homeostasis", - "Bruising susceptibility", - "cellular component organization or biogenesis", - "Abnormality of the face", - "Phenotypic abnormality", - "abnormal digit morphology", - "Abnormality of the genitourinary system", - "cell cycle phase", - "decreased size of the eyeball of camera-type eye", - "appendage girdle complex", + "abnormal enucleated reticulocyte morphology", + "nucleate cell", + "decreased qualitatively sensory perception of sound", "abnormal anatomical entity topology in independent continuant", - "limb segment", + "sexual reproduction", + "organ system subdivision", + "abnormal blood cell", + "erythrocyte", "Macule", - "Abnormality of the cardiovascular system", - "abnormal biological_process", - "skin of body", - "multi-tissue structure", - "Abnormal cellular physiology", - "Aplasia/hypoplasia of the extremities", - "biological phase", - "obsolete cell", - "interphase", - "Prolonged G2 phase of cell cycle", - "upper urinary tract", - "skeletal system", - "abnormally decreased functionality of the anatomical entity", - "abnormal ear", - "abdominal segment element", - "abnormal cell cycle", - "Abnormality of the upper limb", - "absent anatomical entity in the limb", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "DNA repair", - "Abnormality of the skeletal system", - "digit", - "abdominal segment of trunk", - "abnormal renal collecting system", - "Abnormal cellular immune system morphology", - "Duplicated collecting system", - "testis", - "craniocervical region", - "abnormal cellular process", - "abnormal programmed DNA elimination by chromosome breakage", - "Abnormal leukocyte morphology", - "Abnormality of brain morphology", - "Abnormal upper limb bone morphology", - "abnormally decreased number of leukocyte", - "skeletal element", - "Abnormality of mental function", - "Abnormality of the head", - "Abnormal reproductive system morphology", - "Pancytopenia", - "Morphological central nervous system abnormality", - "manus bone", - "Absent thumb", - "skeleton", - "zeugopod", - "abnormal anatomical entity morphology in the brain", + "renal system", + "abnormal kidney morphology", + "main body axis", + "decreased spermatogenesis", + "quality", + "abnormal manus morphology", + "abnormally decreased number of hematopoietic cell", + "phenotype by ontology source", + "excretory system", + "bone marrow cell", + "circulatory system", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "abnormal myeloid cell morphology", + "increased biological_process", + "Abnormality of the nervous system", + "abnormality of internal male genitalia physiology", + "absent digit", + "phenotype", + "Abnormal cell morphology", + "abnormal arm", + "Atypical behavior", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormal renal system", + "Abnormality of the upper urinary tract", + "hemolymphoid system", + "Aplasia/hypoplasia involving the skeleton", + "abdomen element", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "DNA damage response", + "lateral structure", + "abnormal vasculature", "abnormal genitourinary system", - "abnormal axial skeleton plus cranial skeleton morphology", - "Abnormality of body weight", - "abnormal telencephalon morphology", - "abnormal brain morphology", - "aplasia or hypoplasia of telencephalon", - "abnormal autopod region morphology", - "absent radius bone", - "compound organ", - "autopod region", - "abnormally localised anatomical entity in independent continuant", - "musculoskeletal system", - "organism", - "postcranial axial skeletal system", - "paired limb/fin skeleton", + "changed developmental process rate", "Abnormal cerebral morphology", - "Non-obstructive azoospermia", + "abnormal blood circulation", + "arm bone", + "Short thumb", + "enucleated reticulocyte", + "Abnormality of the kidney", + "abnormal anatomical entity", + "Small for gestational age", + "Abnormal forearm morphology", + "abnormal immune system", + "abnormality of anatomical entity height", + "subdivision of organism along main body axis", + "abnormal leukocyte morphology", + "anatomical line between pupils", + "independent continuant", + "abnormal renal system morphology", + "abnormal forelimb morphology", + "abnormal location of anatomical entity", + "absent kidney in the renal system", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "reproduction", + "trunk region element", + "cell cycle", + "pectoral complex", + "Anemic pallor", "absent anatomical entity in the multicellular organism", - "anterior region of body", - "Abnormality of the integument", - "paired limb/fin segment", - "abnormally decreased number of neutrophil", - "granulocyte", - "abnormally decreased number of hematopoietic cell", - "Eukaryota", - "forebrain", - "Abnormality of multiple cell lineages in the bone marrow", - "anatomical collection", - "abnormal skull morphology", - "appendicular skeleton", - "Abnormal axial skeleton morphology", - "behavior", - "blood cell", - "erythroid lineage cell", - "abnormal size of anatomical entity", "hematopoietic system", - "abnormal forebrain morphology", - "haploid cell", - "Abnormal renal morphology", - "Abnormality of limbs", + "thoracic cavity element", + "Abnormal cellular immune system morphology", + "Abnormal nervous system physiology", + "Abnormality of the immune system", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "skeletal element", + "zeugopod", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "external genitalia", + "renal collecting system", + "Ectopic kidney", + "subdivision of head", + "appendage girdle complex", + "Renal hypoplasia/aplasia", + "abnormality of ear physiology", + "absent anatomical entity in the forelimb", "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "root", - "Abnormal neutrophil count", - "increased biological_process", - "reticulocyte", - "abnormal central nervous system morphology", - "abnormal organelle organization", - "abnormal head morphology", - "head", - "abnormally decreased number of granulocyte", - "abnormal sensory perception", - "Neurodevelopmental abnormality", + "cellular metabolic process", + "Abnormality of neutrophils", + "leukocyte", + "abnormal gamete generation", + "decreased multicellular organism mass", + "Aplasia/Hypoplasia involving the central nervous system", + "continuant", + "abnormal neutrophil", + "ectoderm-derived structure", + "structure with developmental contribution from neural crest", + "phalanx of manus", + "negative regulation of biosynthetic process", + "material entity", + "long bone", + "regional part of nervous system", "Abnormal conjugate eye movement", - "process", - "organ system subdivision", - "Abnormal skull morphology", - "Neoplasm", - "abnormal bone marrow cell", - "system process", - "Abnormal granulocyte morphology", + "forelimb bone", + "non-connected functional system", + "abdominal segment element", + "abnormal reproductive system morphology", + "abnormal hematopoietic system", + "Renal agenesis", "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", + "gamete generation", + "Aplasia/Hypoplasia of the thumb", + "bone cell", "biological_process", - "subdivision of skeleton", - "circulatory system", - "sense organ", - "subdivision of skeletal system", - "aplasia or hypoplasia of radius bone", - "main body axis", - "cellular organisms", - "telencephalon", - "manual digit 1 plus metapodial segment", - "Duplication of bones involving the upper extremities", - "abnormal postcranial axial skeleton morphology", - "Thrombocytopenia", - "abnormal craniocervical region morphology", - "abnormal skin of body", - "absent anatomical entity in the forelimb", - "All", - "Abnormal heart morphology", - "Renal hypoplasia/aplasia", - "abnormal number of anatomical enitites of type anatomical entity", - "Decreased fertility", - "integument", - "viscus", - "integumental system", - "multicellular organismal process", - "Decreased anatomical entity mass", - "Abnormality of skin morphology", - "Abnormality of the skin", - "male gamete", - "ectoderm-derived structure", - "organism substance", - "Aplasia/Hypoplasia involving the central nervous system", - "protein-DNA complex organization", - "organ", - "programmed DNA elimination by chromosome breakage", - "abnormal bone marrow morphology", + "myeloid leukocyte", + "entire sense organ system", + "absent radius bone in the independent continuant", + "Abnormal localization of kidney", + "biological regulation", + "abdominal segment of trunk", + "abnormal central nervous system morphology", + "abnormal renal collecting system", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal phenotype by ontology source", + "Abnormal thumb morphology", + "subdivision of trunk", + "absent manual digit", + "manual digit 1 digitopodial skeleton", + "regulation of gene expression", + "pectoral appendage", + "body proper", + "cognition", + "appendage", + "root", + "abnormally localised anatomical entity in independent continuant", + "abnormality of nervous system physiology", "organism subdivision", - "abnormal gamete", - "Abnormal nervous system physiology", - "thoracic cavity element", - "Abnormality of the kidney", - "Cryptorchidism", - "abnormal leukocyte morphology", + "abnormally decreased number of myeloid cell in the independent continuant", + "cranial skeletal system", + "Abnormal eye physiology", + "segment of autopod", + "reproductive system", + "aplastic manual digit 1", + "skeleton of pectoral complex", "abnormally localised anatomical entity", - "non-connected functional system", - "cavitated compound organ", - "Abnormality of the musculoskeletal system", - "abnormal size of skull", - "abnormal limb", - "trunk region element", - "pectoral complex", - "abnormal hematopoietic system", - "Anemic pallor", - "absent anatomical entity in the renal system", - "abdomen", - "acropodial skeleton", - "abnormal kidney", - "nervous system process", - "body proper", - "forelimb zeugopod", + "hematopoietic cell", + "abnormally decreased number of granulocyte", + "abnormal hematopoietic cell morphology", + "viscus", + "Abnormal granulocyte morphology", + "Abnormal cellular phenotype", + "abnormal limb bone", "Abnormal nervous system morphology", - "genitourinary system", - "abnormality of anatomical entity mass", - "abnormal cell", - "bone element", + "Complete duplication of phalanx of hand", + "limb bone", + "granulocyte", + "abnormal number of anatomical enitites of type anatomical entity", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "paired limb/fin segment", + "abnormality of camera-type eye physiology", + "immune system", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal manual digit 1 morphology", + "Absent forearm bone", + "Leukemia", + "abnormal cell morphology", "abnormal nervous system morphology", - "abnormal cardiovascular system morphology", - "Abnormal eye morphology", - "Abnormality of head or neck", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/hypoplasia involving bones of the extremities", - "skeleton of manual digitopodium", - "axial skeletal system", - "abnormality of nervous system physiology", - "Abnormality of the upper urinary tract", - "regulation of biological process", - "Abnormal thumb morphology", - "oxygen accumulating cell", - "Abnormal localization of kidney", - "subdivision of trunk", - "abdomen element", - "Abnormal renal collecting system morphology", - "male germ cell", - "limb", - "lateral structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "phenotype", - "abnormal renal system", - "postcranial axial skeleton", - "abnormally localised kidney", - "absent digit", - "Abnormality of blood and blood-forming tissues", - "anatomical structure", - "Abnormality of the urinary system", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "blood cell", + "Abnormality of the genitourinary system", + "forebrain", + "Abnormality of the cardiovascular system", "Abnormal myeloid cell morphology", - "manual digitopodium bone", - "abnormal skeletal system morphology", - "absent sperm in the independent continuant", + "U-shaped kidney", + "digit 1 or 5", + "skeleton of manual digitopodium", + "primary circulatory organ", + "neutrophil", + "Complete duplication of thumb phalanx", + "manual digit 1 phalanx", + "abnormal forelimb zeugopod bone", + "Abnormal myeloid leukocyte morphology", + "Pancytopenia", + "abnormal head", + "organism", + "programmed DNA elimination", + "obsolete cell", "internal male genitalia", - "occurrent", - "Metazoa", - "Cognitive impairment", - "abnormal integument", - "abnormal nervous system", - "abnormal cellular component organization", - "appendicular skeletal system", - "Abnormality of the nervous system", - "abnormal cellular metabolic process", - "acropodium region", - "pectoral appendage skeleton", - "nucleate cell", - "Abnormality of the orbital region", - "Abnormal cellular phenotype", - "entity", - "abnormal number of anatomical enitites of type hematopoietic cell", - "pigmentation", - "myeloid leukocyte", - "germ cell", - "abnormal spermatogenesis", - "segment of manus", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "absent kidney in the independent continuant", - "manual digit plus metapodial segment", - "phalanx endochondral element", - "limb skeleton subdivision", - "abnormal craniocervical region", - "Microcephaly", - "immune system", - "abnormal neutrophil", - "abnormal blood cell", - "increased biological_process in independent continuant", + "Abnormal granulocyte count", + "eye", + "compound organ", + "zeugopodial skeleton", + "limb long bone", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "abnormal anatomical entity morphology in the pectoral complex", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "abnormal developmental process involved in reproduction", "Functional abnormality of male internal genitalia", - "abnormally decreased number of cell in the independent continuant", + "circulatory system process", + "cavitated compound organ", + "Abnormal leukocyte count", + "manual digit 1 plus metapodial segment", + "abdomen", + "limb endochondral element", "abnormally decreased number of cell", - "cranial skeletal system", - "abnormal bone of pectoral complex morphology", - "Hematological neoplasm", - "Aplasia/Hypoplasia of fingers", - "leukocyte", + "abnormal myeloid leukocyte morphology", + "increased qualitatively biological_process in independent continuant", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "abnormal nervous system", + "biological phase", + "autopod bone", "mesoderm-derived structure", - "macromolecule metabolic process", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "gonad", + "multi-tissue structure", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "abnormally decreased number of granulocyte in the independent continuant", + "Abnormal skull morphology", + "abnormal craniocervical region morphology", + "immaterial entity", + "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", + "Abnormality of body weight", + "aplasia or hypoplasia of telencephalon", + "limb skeleton subdivision", + "skull", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "absent sperm in the semen", "bone of pectoral complex", - "abnormal upper urinary tract", - "specifically dependent continuant", - "abnormal anatomical entity length", - "abnormal number of anatomical enitites of type cell", - "abnormal digit", - "abnormal number of anatomical enitites of type neutrophil", - "abnormality of anatomical entity physiology", - "Puberty and gonadal disorders", - "Abnormal immune system morphology", - "abnormal nitrogen compound metabolic process", - "abnormal immune system", - "abnormally decreased number of myeloid cell", - "Abnormality of blood circulation", - "excretory system", - "skeleton of limb", + "decreased length of anatomical entity", + "autopod endochondral element", + "Abnormality of limb bone", + "central nervous system", + "regional part of brain", + "craniocervical region", + "Abnormality of head or neck", + "abnormal kidney", + "abnormal reproductive system", + "abnormal head morphology", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "spermatogenesis", + "abnormal telencephalon morphology", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "manual digit 1 phalanx endochondral element", + "tissue", + "absent anatomical entity in the semen", + "Abnormality of brain morphology", "nervous system", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "protein-containing complex organization", - "abnormal granulocyte morphology", - "Decreased head circumference", - "hematopoietic cell", - "regulation of macromolecule metabolic process", - "continuant", - "aplastic manual digit 1", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal myeloid leukocyte morphology", - "abnormal manual digit morphology in the manus", - "Ectopic kidney", - "hemolymphoid system", - "forelimb long bone", - "abnormal manus morphology", - "cell", - "phenotype by ontology source", - "metabolic process", - "abnormal phalanx morphology", - "myeloid cell", - "Neutropenia", - "abnormal skeletal system", - "disconnected anatomical group", - "abnormal number of anatomical enitites of type granulocyte", - "changed developmental process rate", - "neutrophil", - "abnormal cellular response to stress", - "independent continuant", - "Aplasia/hypoplasia involving the skeleton", - "Abnormal granulocyte count", - "abnormal hematopoietic cell morphology", - "abnormal limb morphology", - "brain", - "Abnormal external genitalia", - "Abnormal leukocyte count", - "Renal agenesis", - "Pallor", + "forelimb zeugopod bone", + "kinesthetic behavior", + "Eumetazoa", + "Infertility", + "negative regulation of cellular metabolic process", + "Eukaryota", + "decreased length of manual digit", + "abnormal forebrain morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "telencephalon", "Growth abnormality", - "abnormal renal system morphology", - "arm bone", - "abnormal anatomical entity morphology", - "Abnormality of the immune system", - "Aplasia involving bones of the extremities", - "aplasia or hypoplasia of anatomical entity", - "3-D shape anatomical entity in independent continuant", - "anatomical system", - "Abnormality of the endocrine system", - "abnormal kidney morphology", - "immaterial anatomical entity", - "Abnormal bleeding", - "blood circulation", - "endochondral element", - "Abnormality of neutrophils", - "structure with developmental contribution from neural crest", - "renal collecting system", - "Abnormality of skin pigmentation", - "abnormally decreased number of granulocyte in the independent continuant", - "simple eye", + "axial skeletal system", + "abnormal skull morphology", + "reproductive organ", + "abnormal number of anatomical enitites of type reticulocyte", + "decreased developmental process", + "postcranial axial skeleton", + "Abnormal renal collecting system morphology", + "decreased qualitatively developmental process", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "changed biological_process rate in independent continuant", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "Decreased head circumference", + "abnormal size of anatomical entity", + "Abnormality of thrombocytes", + "Abnormal renal morphology", + "abnormal external genitalia", + "Abnormal axial skeleton morphology", + "non-material anatomical boundary", + "erythroid lineage cell", + "Abnormal reproductive system morphology", + "abnormal cardiovascular system", + "thoracic segment organ", + "Abnormal finger morphology", + "Abnormal erythrocyte morphology", + "circulatory organ", + "heart plus pericardium", + "Cryptorchidism", + "Abnormality of cardiovascular system morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "abnormal heart morphology", + "abnormal integument", + "Cafe-au-lait spot", "abnormally decreased number of anatomical entity in the independent continuant", - "axial skeleton plus cranial skeleton", - "Abnormal skeletal morphology", - "limb endochondral element", - "anatomical entity", + "abnormal anatomical entity morphology", + "increased pigmentation", + "Neutropenia", + "reproductive structure", + "changed biological_process rate", + "increased biological_process in skin of body", + "absent germ cell", + "decreased size of the anatomical entity", + "abnormal biological_process in independent continuant", + "abnormal skin of body", + "Abnormality of the integument", + "Abnormality of bone marrow cell morphology", + "Growth delay", + "kidney", + "abnormal biological_process", + "Abnormality of skin morphology", + "integumental system", + "integument", + "absent radius bone in the forelimb", + "increased biological_process in independent continuant", "abnormal skin of body morphology", - "absent radius bone in the independent continuant", - "abnormality of multicellular organism mass", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "primary metabolic process", + "forelimb endochondral element", + "Abnormality of the skin", + "germ line cell", + "abnormal pigmentation in independent continuant", + "Abnormal forearm bone morphology", + "increased pigmentation in independent continuant", + "organic substance metabolic process", + "Abnormality of the head", + "heart", + "abnormal pigmentation", + "Abnormal heart morphology", + "abnormality of reproductive system physiology", + "limb segment", + "absent sperm", + "Abnormality of the genital system", + "Abnormality of reproductive system physiology", + "gamete", + "Abnormality of the endocrine system", + "abnormal endocrine system", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "Puberty and gonadal disorders", + "glandular system", + "male gamete", + "abnormally decreased functionality of the gonad", + "oxygen accumulating cell", + "abnormal erythrocyte morphology", + "manus bone", + "radius bone", + "Abnormality of the hand", + "Anemia", + "abnormal shape of continuant", + "trunk", + "abnormal bone marrow cell", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", + "absent kidney", + "subdivision of skeletal system", + "abnormally decreased number of neutrophil", + "absent kidney in the independent continuant", + "forelimb zeugopod skeleton", + "forelimb zeugopod", + "abnormal testis morphology", + "Aplasia involving bones of the upper limbs", "eukaryotic cell", - "appendage", - "U-shaped kidney", - "material anatomical entity", - "material entity", - "reproduction", - "Decreased fertility in males", - "kinesthetic behavior", - "abnormal number of anatomical enitites of type myeloid cell", - "multicellular organism", - "kidney", + "abnormal limb long bone morphology", + "absent forelimb zeugopod bone", + "Pallor", + "abnormal bone of pectoral complex morphology", + "absent radius bone", + "abnormal behavior", + "radius endochondral element", + "abnormal radius bone morphology", + "Absent radius", + "aplastic forelimb zeugopod bone", + "abnormal size of skull", + "forelimb long bone", + "sensory perception of mechanical stimulus", + "abnormally decreased number of anatomical entity", + "skin of body", + "Abnormal upper limb bone morphology", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "3-D shape anatomical entity in independent continuant", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "abnormal cellular process", + "secretory cell", + "decreased size of the anatomical entity in the independent continuant", + "anucleate cell", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "Prolonged G2 phase of cell cycle", + "pectoral appendage skeleton", + "abnormal blood cell morphology", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "abnormal brain morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal programmed DNA elimination by chromosome breakage", + "specifically dependent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + "cellular organisms", + "Abnormal neutrophil count", + "obsolete multicellular organism reproduction", + "digit 1", + "abnormal platelet morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "Abnormality of globe size", + "abnormally decreased number of platelet", + "Abnormal platelet count", + "sensory perception", + "abnormal developmental process", + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "organelle organization", + "postcranial axial skeletal system", + "abnormal spermatogenesis", + "germ cell", + "abnormal internal genitalia", + "abnormal cell", + "disconnected anatomical group", + "male reproductive organ", + "internal genitalia", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "abnormal external male genitalia", + "haploid cell", + "abnormal gamete", "Reticulocytopenia", - "Opisthokonta", - "Abnormal myeloid leukocyte morphology", - "abnormal phenotype by ontology source", - "abnormal sensory perception of sound", - "abnormal testis morphology", - "reproductive system", - "abnormal location of anatomical entity", - "abnormal myeloid cell morphology", - "cognition", - "manus", + "interphase", + "semen", + "organism substance", + "Abnormal external genitalia", + "platelet", + "absent sperm in the independent continuant", + "male germ cell", + "abnormal granulocyte morphology", + "Azoospermia", + "male reproductive system", + "abnormal number of anatomical enitites of type sperm", + "manual digit", + "abnormal multicellular organismal reproductive process", + "anatomical entity", + "decreased qualitatively biological_process", + "testis", + "external male genitalia", + "regulation of macromolecule metabolic process", + "abnormal reproductive process", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", "male organism", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal forebrain morphology", - "Abnormal cell morphology", - "abnormally decreased number of leukocyte in the independent continuant", + "sperm", + "absent gamete", + "developmental process involved in reproduction", + "Abnormality of male external genitalia", + "abnormal male reproductive system morphology", + "Abnormal testis morphology", + "absent anatomical entity in the independent continuant", + "abnormally localised testis", + "reproductive process", + "shape kidney", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "developmental process", + "abnormal manual digit morphology in the manus", + "Abnormal internal genitalia", + "Abnormal reticulocyte morphology", + "decreased length of anatomical entity in independent continuant", + "manual digitopodium region", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "decreased length of digit", + "Short finger", + "skeleton of digitopodium", + "Short digit", + "anterior region of body", + "decreased length of manual digit 1", ], "has_phenotype_count": 34, "highlight": None, @@ -1716,21 +1716,24 @@ def autocomplete(): "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0000470", - "HP:0002575", - "HP:0040012", "HP:0007018", + "HP:0040012", "HP:0008551", + "HP:0000470", "HP:0009777", "HP:0004590", + "HP:0002575", "HP:0000238", - "HP:0000316", + "HP:0000369", + "HP:0000465", + "HP:0000957", + "HP:0002023", + "HP:0000582", "HP:0001510", + "HP:0000316", "HP:0001776", - "HP:0000369", "HP:0000347", "HP:0003974", - "HP:0000465", "HP:0001511", "HP:0009892", "HP:0000151", @@ -1743,32 +1746,32 @@ def autocomplete(): "HP:0000054", "HP:0000437", "HP:0001903", - "HP:0000957", "HP:0000122", - "HP:0002023", "HP:0002188", - "HP:0000582", "HP:0000568", "HP:0000431", "HP:0005528", "HP:0000089", ], "has_phenotype_label": [ - "Short neck", - "Tracheoesophageal fistula", - "Chromosome breakage", "Attention deficit hyperactivity disorder", + "Chromosome breakage", "Microtia", + "Short neck", "Absent thumb", "Hypoplastic sacrum", + "Tracheoesophageal fistula", "Hydrocephalus", - "Hypertelorism", + "Low-set ears", + "Webbed neck", + "Cafe-au-lait spot", + "Anal atresia", + "Upslanted palpebral fissure", "Growth delay", + "Hypertelorism", "Bilateral talipes equinovarus", - "Low-set ears", "Micrognathia", "Absent radius", - "Webbed neck", "Intrauterine growth retardation", "Anotia", "Aplasia of the uterus", @@ -1781,1801 +1784,1798 @@ def autocomplete(): "Micropenis", "Depressed nasal tip", "Anemia", - "Cafe-au-lait spot", "Unilateral renal agenesis", - "Anal atresia", "Delayed CNS myelination", - "Upslanted palpebral fissure", "Microphthalmia", "Wide nasal bridge", "Bone marrow hypocellularity", "Renal hypoplasia", ], "has_phenotype_closure": [ - "HP:0000089", - "UPHENO:0069110", "UPHENO:0081210", - "UPHENO:0075182", - "CL:0001035", - "HP:0012145", + "UPHENO:0085195", "UPHENO:0087123", - "UBERON:0002405", - "UBERON:0002371", - "UPHENO:0002948", - "CL:0002092", - "HP:0000431", + "HP:0012145", + "HP:0005528", + "UBERON:0000479", + "HP:0005561", + "UPHENO:0087355", + "HP:0002715", + "UBERON:0008340", "UPHENO:0006161", - "HP:0000422", "UPHENO:0087278", + "UPHENO:0006147", + "UPHENO:0081800", + "HP:0000431", + "HP:0000568", "HP:0008056", "HP:0100887", - "UPHENO:0080209", - "HP:0000568", - "UPHENO:0075219", - "UPHENO:0069523", - "UPHENO:0076761", - "HP:0030669", - "UBERON:0035639", - "UBERON:0001711", - "UPHENO:0085195", - "HP:0000492", - "UBERON:0034921", - "HP:0200006", - "UPHENO:0021791", - "HP:0000582", - "GO:0008366", - "GO:0030154", - "GO:0048468", - "UPHENO:0050372", - "UPHENO:0062515", - "UPHENO:0061854", - "UPHENO:0084012", - "UPHENO:0084007", - "UPHENO:0050406", - "GO:0007272", - "HP:0002188", - "GO:0022010", - "GO:0048869", "GO:0048709", - "GO:0014003", - "GO:0007417", "GO:0007399", + "GO:0032291", + "GO:0022008", "GO:0010001", - "GO:0021782", - "UPHENO:0083951", - "UPHENO:0000553", - "UPHENO:0062527", - "HP:0011400", "HP:0012448", - "UPHENO:0083952", - "HP:0032039", - "HP:0034915", - "UBERON:0001245", - "UBERON:0000161", - "HP:0004378", - "HP:0002023", - "UPHENO:0063599", - "HP:0000079", + "GO:0048869", + "UPHENO:0000552", + "UPHENO:0050372", + "UPHENO:0076779", + "UPHENO:0087427", + "GO:0030154", "UBERON:0002113", "UBERON:0011143", + "UBERON:0000916", + "UPHENO:0083952", "UBERON:8450002", - "UPHENO:0087427", - "UPHENO:0025100", + "HP:0000122", "UPHENO:0026980", - "HP:0000104", - "UBERON:0003100", - "HP:0001317", - "UPHENO:0002803", - "UPHENO:0075902", - "HP:0002032", - "HP:0008678", - "UBERON:0001008", - "UPHENO:0088047", - "GO:0060255", - "HP:0001000", - "UBERON:0002386", - "UPHENO:0080662", - "HP:0007400", - "HP:0000951", - "UBERON:0034925", - "GO:0032502", - "HP:0001034", - "UPHENO:0076739", - "HP:0011121", - "UPHENO:0002839", - "GO:0065007", - "HP:0000957", - "UPHENO:0074589", - "UBERON:0002471", - "UPHENO:0088162", - "UPHENO:0085118", - "UBERON:0004381", + "UPHENO:0008593", + "GO:0014003", + "HP:0001877", + "HP:0012130", + "UBERON:0002390", + "UPHENO:0004459", "HP:0001903", - "UPHENO:0088170", - "UBERON:0010538", - "CL:0000764", - "UBERON:0002193", - "UPHENO:0084928", - "HP:0005607", - "UPHENO:0085068", + "UPHENO:0085118", + "HP:0020047", "CL:0000232", - "UPHENO:0082129", - "CL:0000081", - "HP:0000436", - "UPHENO:0041098", + "CL:0000763", + "UPHENO:0082467", + "UPHENO:0041458", "UPHENO:0041203", - "UBERON:0007827", - "UPHENO:0087950", + "UBERON:0000004", "UBERON:0002268", - "UPHENO:0087563", - "NBO:0000313", - "UPHENO:0041041", + "UPHENO:0087430", + "HP:0000366", + "UPHENO:0082454", + "UPHENO:0081585", "UPHENO:0082356", - "UPHENO:0021517", + "UPHENO:0041080", + "UPHENO:0075219", + "HP:0005105", + "HP:0000436", + "UPHENO:0080209", + "UPHENO:0068843", + "UBERON:0004053", + "UBERON:0008811", + "HP:0010935", "UPHENO:0002907", - "HP:0000366", - "UPHENO:0087430", - "UPHENO:0082467", - "UPHENO:0002595", "HP:0003241", - "UBERON:0003101", - "UPHENO:0081095", + "HP:0000032", "HP:0008736", - "UPHENO:0005016", + "UBERON:0001008", "UPHENO:0081320", - "UPHENO:0068843", - "UBERON:0003462", - "UPHENO:0060026", - "HP:0000050", - "UBERON:0003135", - "NCBITaxon:2759", + "UPHENO:0002948", + "UPHENO:0087643", + "UBERON:0000989", + "UBERON:0003101", + "UPHENO:0050406", + "HP:0000811", + "HP:0010461", + "HP:0000054", + "HP:0001871", "UBERON:0000079", - "UPHENO:0002597", - "HP:0009122", - "UPHENO:0076760", - "HP:0000175", - "GO:0043473", - "HP:0000315", - "HP:0011355", + "UPHENO:0087802", + "UPHENO:0075655", + "UBERON:0004089", + "UBERON:0001716", + "HP:0000202", "UBERON:0001709", - "UBERON:0000464", - "UPHENO:0086824", - "UPHENO:0033635", - "UBERON:0002428", + "UBERON:0002553", "UPHENO:0076786", - "UBERON:0001017", - "HP:5201015", - "UBERON:0012141", - "UBERON:0006983", - "UPHENO:0076785", - "UBERON:0000167", - "UBERON:0003606", - "HP:0000202", - "UBERON:0002416", - "CL:0000988", - "HP:0000953", - "HP:0000309", - "UBERON:0006717", - "CL:0000763", - "HP:0000163", - "NCBITaxon:131567", + "UPHENO:0033635", + "UBERON:0000464", + "HP:0000175", "UPHENO:0020013", - "UBERON:0011158", - "UBERON:0004733", - "UPHENO:0006147", - "UPHENO:0087585", - "HP:0011282", - "HP:0011283", - "UBERON:0002616", - "UPHENO:0080089", - "GO:0046483", + "NCBITaxon:6072", + "NCBITaxon:2759", + "UPHENO:0081601", "UBERON:0002028", - "HP:0006496", + "UBERON:0002037", + "UBERON:0001895", "NCBITaxon:33154", - "UPHENO:0087355", - "UBERON:0000481", - "HP:0011458", - "UPHENO:0041458", - "GO:0031052", - "HP:0000008", - "UPHENO:0087806", - "UBERON:0000020", - "UPHENO:0087547", - "UBERON:0004122", + "NCBITaxon:131567", + "UPHENO:0080089", + "HP:0002977", + "GO:0007417", + "UBERON:0004176", + "UBERON:0004733", + "UBERON:0004732", + "UPHENO:0076720", + "NCBITaxon:1", + "HP:0011283", + "UBERON:0000063", + "UBERON:0000073", + "HP:0011968", + "UPHENO:0063603", + "HP:0002589", + "HP:0003221", + "HP:0001263", + "UPHENO:0002642", + "HP:0000151", + "UPHENO:0020950", "UBERON:0000990", - "HP:0012243", - "UPHENO:0002598", + "UPHENO:0025875", + "UBERON:0003134", + "UBERON:0000995", + "UPHENO:0087547", "HP:0000130", - "HP:0000001", - "UPHENO:0081119", - "UBERON:0005156", - "HP:0001939", - "HP:0000812", - "UBERON:0000062", - "UBERON:0002398", - "NCBITaxon:33208", + "UPHENO:0003053", + "UBERON:0003100", + "HP:0010460", "UPHENO:0005170", - "HP:0001511", - "UBERON:0000993", 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"GO:0071840", - "UBERON:0000154", - "UBERON:0011582", - "UBERON:0010913", - "GO:0016043", - "HP:0025031", - "UBERON:0006077", - "GO:0009890", - "GO:0071704", - "UBERON:0001555", - "UPHENO:0049622", - "GO:0010605", - "HP:0000925", - "GO:0031323", - "OBI:0100026", - "GO:0006259", - "GO:0043933", - "GO:0042552", - "GO:0090304", - "UBERON:0011159", - "UBERON:0011216", - "HP:0002575", - "GO:0044238", - "UPHENO:0084763", - "UBERON:0002529", - "HP:0010935", - "UBERON:0000974", - "HP:0000151", - "UPHENO:0080079", + "UBERON:0004086", + "UBERON:0000153", + "UPHENO:0069249", + "UPHENO:0076692", + "UPHENO:0081435", + "HP:0001760", + "UPHENO:0041041", + "UPHENO:0049587", "BFO:0000015", - "UPHENO:0076702", - "UBERON:0007779", - "GO:0010629", - "UPHENO:0063565", - "HP:0011793", - "UPHENO:0081141", - "HP:0025033", - "GO:0032291", - "HP:0002031", - "UPHENO:0081328", - "HP:0002664", - "UPHENO:0008668", - "HP:0008050", - "HP:0002795", - "GO:0031324", - "UBERON:0001359", - "HP:0007360", - "UBERON:0005172", - "UPHENO:0076723", - "UBERON:0007375", - "HP:0011968", - "CL:0000000", - "UPHENO:0082875", - "GO:0009987", - "UBERON:0000117", - "HP:0025354", - "UBERON:0007196", + "HP:0000736", + "BFO:0000002", + "HP:0012639", + "UBERON:0006800", "UPHENO:0080110", - "UPHENO:0000552", - "HP:0000118", - "UPHENO:0002725", - "UBERON:0002199", - "UPHENO:0074228", - "UBERON:5002544", - "UBERON:0001005", - "UPHENO:0085144", - "UBERON:0000025", - "UPHENO:0002642", - "GO:0071824", - "UPHENO:0086700", - "UPHENO:0076692", - "HP:5200044", - "HP:0005105", - "UBERON:0000072", - "UPHENO:0021304", - "UPHENO:0081585", - "HP:0020047", - "UPHENO:0086172", - "HP:0003220", - "UPHENO:0075878", - "GO:0031326", - "UBERON:0000026", - "UBERON:0000475", - "UPHENO:0076779", - "GO:0050896", - "HP:0000153", - "HP:0008518", - "UBERON:0001716", - "UBERON:0004119", - "UPHENO:0054957", - "UPHENO:0080158", - "UPHENO:0001005", - "HP:0012252", - "UBERON:0001456", - "UBERON:0004921", - "UBERON:0004111", - "UBERON:0001043", - "UBERON:0001558", - "UPHENO:0087374", + "PATO:0000001", + "UPHENO:0084928", + "UPHENO:0063565", + "UPHENO:0026028", + "GO:0042552", "UPHENO:0049700", - "UPHENO:0059829", - "UPHENO:0009396", - "UPHENO:0002764", - "UBERON:0012477", - "UBERON:0000065", - "UBERON:0007842", - "UBERON:0004456", - "UBERON:0000989", - "HP:0000707", - "UBERON:0002470", - "UPHENO:0049587", - "UPHENO:0001002", - "UPHENO:0080221", - "UBERON:0002075", - "HP:0012372", "HP:0005927", + "UPHENO:0052178", + "HP:0008551", + "HP:0005922", + "HP:0001317", + "UBERON:0004175", + "HP:0011024", + "UBERON:0011216", + "UBERON:0006333", + "UBERON:0005178", + "GO:0007610", + "UPHENO:0002332", "UBERON:0002100", + "HP:5200044", + "UPHENO:0004523", + "HP:0009115", "GO:0031049", - "UPHENO:0076752", - "UBERON:0001007", - "UPHENO:0087548", - "UBERON:0000465", - "UBERON:0004247", - "UBERON:0013765", - "UPHENO:0050008", + "UBERON:0002075", + "GO:0090304", + "UBERON:0000060", + "GO:0009890", + "HP:0012210", + "UBERON:0008962", + "UBERON:0008907", + "UBERON:0001463", + "UPHENO:0002595", + "UBERON:0004122", + "UPHENO:0079826", + "HP:0000089", + "UBERON:0001444", + "UPHENO:0018390", + "HP:0000077", + "UBERON:0002199", + "UBERON:0003113", + "HP:0002778", + "UPHENO:0025708", + "HP:0000929", + "GO:0034641", + "HP:0002973", + "HP:0001172", + "UBERON:0011676", "HP:0011446", - "UBERON:0015007", - "UPHENO:0031839", - "HP:0011024", - "UBERON:0013701", - "UBERON:0010709", - "UPHENO:0086699", - "UBERON:0004708", - "UBERON:0001137", - "HP:0000470", - "UPHENO:0046571", - "UPHENO:0087924", - "HP:0011842", - "HP:0012718", - "HP:0025032", - "UPHENO:0086589", - "HP:0009825", + "UBERON:0004119", + "UPHENO:0082682", + "UBERON:0001016", + "UBERON:0004111", + "UBERON:0011137", + "UPHENO:0080377", + "GO:0005623", + "UBERON:0012141", + "NCBITaxon:33208", + "HP:0011017", + "GO:0065007", + "UPHENO:0086172", + "UBERON:0012477", + "HP:0012638", + "HP:0000356", + "UPHENO:0069110", + "UPHENO:0014240", + "HP:0001939", + "UPHENO:0050845", + "UPHENO:0087846", + "UBERON:0001555", + "UPHENO:0059829", + "BFO:0000040", + "UBERON:0001442", + "UPHENO:0074584", + "UPHENO:0049622", + "HP:0003220", + "UPHENO:0001001", + "HP:0002817", + "UPHENO:0075902", "UPHENO:0015280", - "UPHENO:0050121", - "UBERON:0013515", - "UPHENO:0076718", - "UBERON:0010323", - "UBERON:0000479", - "UPHENO:0000543", - "UPHENO:0050116", - "UBERON:0000064", - "UPHENO:0081435", - "HP:0005107", - "GO:0009892", - "UBERON:5006048", + "GO:0016043", + "HP:0012758", + "HP:0002011", + "UPHENO:0074575", + "GO:0008152", "GO:0019222", - "UPHENO:0033572", - "UBERON:0005473", - "HP:0000437", - "HP:0025668", - "HP:0003221", - "UBERON:0003458", - "UBERON:0001004", - "UBERON:0011138", + "UPHENO:0063639", + "GO:0006325", + "GO:0048731", + "GO:0031327", + "HP:0000707", "UPHENO:0049748", - "HP:0002778", - "UPHENO:0072195", - "UBERON:0005174", - "HP:0000054", - "UBERON:0007811", - "CL:0000329", - "HP:0003319", - "HP:0012210", - "UPHENO:0005986", - "BFO:0000001", - "HP:0002814", - "UBERON:0003463", - "GO:0050789", - "HP:0011297", - "UPHENO:0075696", + "UPHENO:0026183", + "UPHENO:0056072", + "UPHENO:0050116", + "HP:0000174", + "UPHENO:0002896", + "GO:0043933", + "HP:0000079", + "UPHENO:0026128", + "GO:0048523", + "GO:0010629", + "UPHENO:0050021", + "GO:0071824", + "GO:0031324", + "UBERON:0011584", + "UBERON:0004923", + "UPHENO:0080382", + "HP:0001000", + "UPHENO:0008668", + "UPHENO:0068971", + "UBERON:0001690", + "UPHENO:0009396", + "UPHENO:0076752", + "UBERON:0002105", + "UBERON:0013701", + "GO:0032501", + "UPHENO:0026506", + "UBERON:0011595", + "UBERON:0004288", + "UPHENO:0002830", + "BFO:0000141", + "CL:0002092", + "UPHENO:0081466", + "UPHENO:0081783", + "UPHENO:0002903", + "UBERON:0000062", + "UPHENO:0081099", + "UPHENO:0049586", + "UPHENO:0081790", + "UPHENO:0082129", + "HP:0001511", "UPHENO:0074572", - "UPHENO:0020748", - "UPHENO:0087846", - "UPHENO:0049367", - "UBERON:0001434", - "HP:0011844", - "HP:0001877", - "UPHENO:0011498", - "UBERON:0010000", - "UPHENO:0081598", - "UBERON:0012139", - "UPHENO:0004459", - "UPHENO:0056333", - "UBERON:0001819", - "UPHENO:0087349", - "UPHENO:0050113", - "UBERON:0001130", - "UPHENO:0056212", - "GO:0010556", - "HP:0033127", - "HP:5200045", - "UPHENO:0080187", - "UBERON:0005181", - "UPHENO:0003074", + "UBERON:0002417", "HP:0000152", - "UBERON:0004709", - "UBERON:0005944", + "UPHENO:0005986", + "GO:0009987", + "UBERON:0034929", + "UPHENO:0087907", + "UPHENO:0076730", + "UPHENO:0081119", + "HP:0000078", + "UBERON:0003690", + "UPHENO:0018426", + "UBERON:0011158", + "UBERON:0000974", + "UPHENO:0086628", + "UBERON:0002428", + "UPHENO:0054957", + "GO:0008366", + "HP:0000752", + "HP:0009892", + "GO:0009892", + "UPHENO:0076785", + "UBERON:0001456", + "GO:0010468", + "UPHENO:0000541", + "HP:0002032", + "UPHENO:0086633", + "UPHENO:0087974", + "HP:0045060", + "UBERON:0010538", + "UBERON:0011249", + "UBERON:0010712", + "UBERON:0002091", + "UPHENO:0076727", + "UBERON:0001460", + "GO:0040007", + "UBERON:0019221", + "UBERON:0004381", + "UPHENO:0011498", + "UBERON:0013765", + "HP:0040068", + "UPHENO:0002708", + "UBERON:0010708", + "UPHENO:0026628", + "UBERON:0000019", + "UBERON:0003133", + "UBERON:5006048", + "UPHENO:0021791", + "UBERON:5002389", + "GO:0048519", + "HP:0008772", "UBERON:0006058", - "GO:0006996", - "UBERON:0006333", - "UBERON:0002513", - "UPHENO:0014240", - "UBERON:0006314", - "UBERON:0000153", - "HP:0002589", - "UPHENO:0080099", - "UPHENO:0087089", - "UBERON:0010313", - "HP:0040064", - "UBERON:0004451", - "HP:0009815", - "UBERON:0011137", + "UPHENO:0076723", + "UPHENO:0055730", + "UPHENO:0002905", + "UBERON:0012475", + "UPHENO:0002880", + "UPHENO:0085068", + "UBERON:0004708", + "HP:0040012", "UPHENO:0022529", - "UBERON:0001690", - "UBERON:0008811", - "UBERON:0000061", - "UPHENO:0002934", + "UBERON:0010707", + "UPHENO:0087510", + "UBERON:5002544", + "UBERON:0001062", + "UBERON:0005881", "UBERON:0010758", - "PR:000050567", - "UPHENO:0002448", - "UPHENO:0020584", - "UBERON:0004086", - "UBERON:0002101", - "UPHENO:0068984", - "UBERON:0006800", + "UBERON:0002193", + "UPHENO:0056237", + "UBERON:0007827", + "UBERON:0002470", + "UBERON:0012139", + "UPHENO:0087349", + "UBERON:0000468", + "UBERON:0002389", + "UPHENO:0085144", + "HP:0000238", + "UPHENO:0087006", + "UPHENO:0076724", + "UPHENO:0081451", + "HP:0005107", + "UPHENO:0081436", + "UPHENO:0081328", + "UPHENO:0075182", + "HP:0009122", + "UBERON:0002398", "UBERON:0009569", - "HP:0001574", - "GO:0044237", - "UPHENO:0009341", + "UPHENO:0083951", + "UPHENO:0087374", + "UPHENO:0088170", + "UBERON:0010740", + "UPHENO:0081792", + "HP:0008517", + "UBERON:0006314", + "UPHENO:0002536", + "HP:0004590", + "HP:0030669", + "HP:0008678", + "GO:0006996", + "UBERON:0005179", + "UBERON:0003828", + "GO:0060255", + "UBERON:0006075", + "UPHENO:0087501", + "GO:0006725", + "UPHENO:0076800", + "UPHENO:0076695", + "UBERON:0005173", + "UBERON:0003463", + "UBERON:0005177", + "UPHENO:0049990", + "UPHENO:0020659", + "HP:0012243", + "HP:0008518", + "CL:0000081", + "UBERON:0000064", + "GO:0031326", + "UPHENO:0065599", + "UPHENO:0079876", + "UBERON:0001007", + "UBERON:0001710", + "UBERON:0013522", + "UPHENO:0021517", + "UPHENO:0081784", + "UPHENO:0000543", + "UBERON:0001558", + "UPHENO:0076735", + "UBERON:0000463", + "UBERON:0004247", + "UBERON:0000117", + "HP:0011793", + "HP:0002575", + "UBERON:0001005", + "UBERON:0000072", "UPHENO:0084448", - "UBERON:0001463", - "UBERON:0000468", + "UBERON:0001245", + "UBERON:0012140", + "UBERON:0005473", + "UBERON:0000065", + "UBERON:0007811", + "HP:0012252", + "UPHENO:0081786", + "UBERON:0010913", + "UBERON:0001043", + "HP:0009777", + "UBERON:0004921", + "UPHENO:0080662", + "UPHENO:0075696", + "UBERON:0004908", + "HP:0005607", + "HP:0025031", + "HP:0000347", + "UBERON:0005409", + "UPHENO:0086700", + "UPHENO:0020748", + "UBERON:0003126", "HP:0000464", - "UBERON:0000467", - "HP:0002692", - "HP:0000357", - "UPHENO:0076803", - "UPHENO:0049874", - "PATO:0000001", - "BFO:0000040", - "UPHENO:0081466", - "UPHENO:0076703", - "UPHENO:0046505", - "UPHENO:0026628", - "UPHENO:0081314", - "HP:0040012", - "UBERON:0008907", - "UPHENO:0008593", - "UPHENO:0081786", - "RO:0002577", + "UBERON:0000915", + "UBERON:0005181", + "UBERON:0005944", + "UPHENO:0003020", + "UBERON:0004768", + "UPHENO:0081141", + "UPHENO:0069523", + "UPHENO:0002725", + "HP:0012718", + "UPHENO:0076766", + "UPHENO:0080300", + "UPHENO:0009382", + "UPHENO:0088047", + "UPHENO:0025945", + "UBERON:0006048", + "UPHENO:0021304", + "HP:0001574", + "HP:0000153", + "UBERON:0001359", + "HP:0000104", + "UPHENO:0082875", + "HP:0011355", + "UPHENO:0056212", + "UPHENO:0081598", + "UBERON:0000993", + "UBERON:0002102", + "UPHENO:0003811", + "UPHENO:0025211", + "UPHENO:0087548", + "UBERON:0000061", + "UBERON:0035639", + "GO:1901360", + "UPHENO:0056333", + "UBERON:0002616", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0001032", + "HP:0012443", + "UPHENO:0088185", + "UBERON:0002544", + "UBERON:0007779", + "GO:0021782", + "UPHENO:0087433", + "UBERON:0005358", + "UPHENO:0005597", + "UBERON:0005282", + "UPHENO:0069391", + "UBERON:0001017", + "UBERON:0001270", + "UBERON:0005281", + "UBERON:0000154", + "UPHENO:0088168", + "UBERON:0004451", + "UPHENO:0076805", + "UBERON:0000047", + "GO:0007275", "HP:0000924", - "UPHENO:0087643", - "UBERON:0001062", + "UBERON:0004121", + "UBERON:0000475", + "UPHENO:0076702", + "HP:0012759", + "HP:0007018", + "HP:0002118", + "HP:0006503", + "UBERON:0002104", + "UPHENO:0049367", + "HP:0000369", + "HP:0000118", + "UBERON:0000978", + "HP:0000465", + "UPHENO:0080221", + "BFO:0000001", + "UPHENO:0002635", + "HP:0001034", + "HP:0033127", + "HP:0007400", + "UBERON:0002416", + "UBERON:0000481", + "HP:0000957", + "HP:0011121", + "UPHENO:0076740", + "HP:0000953", + "UPHENO:0074589", + "UBERON:0003460", + "UPHENO:0080087", + "HP:0012733", + "HP:0000050", + "UPHENO:0054970", + "UPHENO:0026954", + "GO:0043473", + "HP:0004378", + "HP:0003319", + "UPHENO:0046505", + "UPHENO:0086644", + "UPHENO:0062527", + "UPHENO:0086824", + "UBERON:0000161", + "HP:0009380", + "UPHENO:0074228", + "GO:0006807", + "UPHENO:0002839", + "UPHENO:0087339", + "HP:0034915", + "HP:0006265", + "UPHENO:0078606", + "HP:0002023", + "UPHENO:0025100", + "HP:0000492", + "UPHENO:0076760", + "UBERON:0001691", + "UPHENO:0086595", + "UBERON:0034921", + "UBERON:0001004", + "HP:0000315", + "UPHENO:0002910", + "HP:0032039", + "HP:0000422", + "UPHENO:0086932", + "UPHENO:0086699", + "UBERON:0001819", + "HP:0010938", + "GO:0043170", + "HP:0008050", + "UPHENO:0003058", + "UBERON:0000025", + "UBERON:0004088", + "UBERON:0000970", + "UPHENO:0087472", + "UPHENO:0076761", + "HP:0000271", + "HP:0001510", + "HP:0001507", + "UPHENO:0049874", + "UBERON:5001463", + "UPHENO:0021474", + "UBERON:0000466", + "HP:0000478", + "UPHENO:0080158", + "UPHENO:0080196", + "UPHENO:0063599", + "UBERON:0010222", + "UPHENO:0087816", + "HP:0001762", + "UBERON:0010230", + "UPHENO:0002598", + "HP:0100886", + "HP:0011400", + "HP:0012372", + "OBI:0100026", + "UPHENO:0001072", + "UPHENO:0072195", + "HP:0002814", + "HP:0001776", + "HP:0005656", + "UPHENO:0081575", + "UBERON:0010709", + "HP:0000925", + "UBERON:0008784", + "UPHENO:0050008", + "HP:0006496", + "UPHENO:0003070", + "HP:0011458", + "HP:0002818", + "GO:0071840", + "HP:0002813", + "HP:0002921", + "HP:0000277", + "BFO:0000020", + "UBERON:0012354", + "UPHENO:0081566", ], "has_phenotype_closure_label": [ - "abnormal size of kidney", "decreased size of the kidney", + "tissue", + "Bone marrow hypocellularity", "bone marrow", - "Abnormality of multiple cell lineages in the bone marrow", - "bone marrow cell", - "abnormal bone marrow cell", "abnormal immune system", - "abnormal bone marrow cell morphology", - "Abnormality of the immune system", - "abnormal hematopoietic system morphology", - "increased width of anatomical entity", - "increased width of the anatomical entity in independent continuant", + "Abnormality of bone marrow cell morphology", + "bone cell", + "abnormal immune system morphology", "abnormal snout morphology", - "nasal bridge", - "abnormal size of eyeball of camera-type eye", - "Aplasia/Hypoplasia affecting the eye", + "increased width of nasal bridge", + "snout", + "increased width of the anatomical entity in independent continuant", + "abnormal nasal bridge morphology", + "increased width of anatomical entity", "Abnormality of globe size", - "Abnormal ocular adnexa morphology", - "Abnormality of the palpebral fissures", - "Upslanted palpebral fissure", - "Abnormality of the ocular adnexa", - "Slanting of the palpebral fissure", - "abnormal ocular adnexa morphology", - "palpebral fissure", - "multi organ part structure", + "Aplasia/Hypoplasia affecting the eye", + "abnormal biological_process in central nervous system", + "central nervous system myelination", + "gliogenesis", + "decreased size of the eyeball of camera-type eye", + "oligodendrocyte differentiation", + "oligodendrocyte development", + "nervous system development", + "glial cell differentiation", + "cellular developmental process", + "abnormal myelination in independent continuant", "abnormal central nervous system myelination in independent continuant", - "Delayed myelination", - "ocular adnexa", + "delayed central nervous system myelination", + "Abnormal myelination", + "abnormal hematopoietic system morphology", "system development", "axon ensheathment", - "cell development", - "Abnormal myelination", - "myelination", - "glial cell differentiation", - "glial cell development", - "abnormal myelination in independent continuant", - "ensheathment of neurons", - "cellular developmental process", - "delayed biological_process in independent continuant", - "delayed biological_process in central nervous system", - "snout", - "abnormal myelination", - "Abnormal CNS myelination", - "oligodendrocyte differentiation", - "abnormal central nervous system myelination", - "abnormal anus morphology", - "abnormal anus", - "Anal atresia", - "anus atresia", - "renal system", - "cavitated compound organ", - "Intrauterine growth retardation", - "abdomen", - "abnormal kidney", - "excretory system", + "abnormal axon ensheathment in central nervous system in independent continuant", + "absent anatomical entity in the renal system", + "abnormal kidney morphology", + "cavitated compound organ", "abnormal renal system", - "Cleft palate", + "abdomen element", + "Abnormality of the kidney", "Abnormality of the upper urinary tract", - "respiratory airway", - "kidney", + "renal system", "absent kidney", - "abnormal kidney morphology", - "integument", - "Esophageal atresia", - "pigmentation", - "Bone marrow hypocellularity", - "Hypermelanotic macule", - "lower respiratory tract", - "abnormal pigmentation", - "increased pigmentation in independent continuant", - "increased biological_process in independent continuant", - "Cafe-au-lait spot", - "abnormal craniocervical region morphology", - "abnormal integument", - "intromittent organ", - "Abnormality of skin pigmentation", - "Abnormal oral morphology", - "abnormal skin of body morphology", - "hemolymphoid system", - "Localized skin lesion", - "erythroid lineage cell", + "excretory system", + "abnormal upper urinary tract", + "abnormal cell morphology", "hematopoietic system", - "Abnormal respiratory system physiology", - "absent anatomical entity in the renal system", - "increased pigmentation", - "abnormal hematopoietic system", - "nervous system", - "Abnormal myeloid cell morphology", + "abnormal myeloid cell morphology", + "Abnormal erythroid lineage cell morphology", "myeloid cell", + "abnormal erythrocyte morphology", "oxygen accumulating cell", "hematopoietic cell", - "Anemia", - "abnormal erythroid lineage cell morphology", - "thoracic cavity element", - "Abnormal cell morphology", - "abnormal bone marrow morphology", - "Abnormal axial skeleton morphology", - "external nose", - "Abnormality of blood and blood-forming tissues", - "flat anatomical entity in independent continuant", - "pectoral appendage", - "abnormal incomplete closing of the anatomical entity", - "Depressed nasal tip", - "abnormal nose morphology", - "Abnormal external nose morphology", + "abnormal hematopoietic system", + "olfactory organ", "curvature anatomical entity", - "Abnormal morphology of female internal genitalia", - "curvature anatomical entity in independent continuant", - "flat anatomical entity", - "orifice", + "abnormal size of eyeball of camera-type eye", + "nose tip", "Abnormality of the nose", - "abnormal penis", + "flattened anatomical entity in independent continuant", + "nose", + "flat nose tip", + "Abnormal external nose morphology", + "abnormal nose morphology", + "Abnormal nasal tip morphology", + "Hypoplasia of penis", "abnormal male reproductive system morphology", - "Micropenis", + "Abnormality of male external genitalia", "External genital hypoplasia", - "abnormal male reproductive system", - "decreased size of the penis", - "abnormal palpebral fissure", - "Abnormality of the male genitalia", - "external genitalia", - "male organism", - "abnormal male reproductive organ morphology", - "external male genitalia hypoplasia", + "Abnormal penis morphology", "external male genitalia", + "Abnormal external genitalia", + "abnormal penis", + "male reproductive system", + "Abnormal renal morphology", "abnormal external genitalia", - "Abnormality of the genitourinary system", - "nose", - "Abnormality of the kidney", - "limb segment", - "Abnormality of male external genitalia", - "absent anatomical entity", - "roof of mouth", + "decreased size of the external male genitalia", "Orofacial cleft", - "abnormal roof of mouth morphology", "Abnormal oral cavity morphology", - "abnormal location of anatomical entity", "abnormal oral cavity morphology", - "penis", - "Abnormal midface morphology", - "Abnormal metencephalon morphology", + "abnormal midface morphology", + "anatomical cavity", + "Craniofacial cleft", + "abnormal incomplete closing of the secondary palate", + "abnormal roof of mouth morphology", "root", + "abnormal cerebellum morphology", + "segmental subdivision of nervous system", "hindbrain", - "Abnormality of the anus", + "external genitalia", + "cerebellum", "metencephalon", - "Opisthokonta", + "delayed myelination", + "abnormal hindbrain morphology", + "abnormal metencephalon morphology", + "Eumetazoa", + "Abnormal metencephalon morphology", "regional part of brain", - "paired limb/fin", + "cerebellum hypoplasia", + "Abnormal midface morphology", + "regional part of nervous system", + "abnormal external male genitalia", + "abnormal anatomical entity morphology in the brain", "Cerebellar hypoplasia", - "Abnormal cerebellum morphology", - "abnormal cerebellum morphology", - "absent radius bone in the independent continuant", - "Eukaryota", - "Abnormality of the skin", - "abnormal face morphology", - "abnormal metencephalon morphology", - "abnormal hindbrain morphology", "Feeding difficulties", "abnormality of digestive system physiology", - "Abnormality of digestive system physiology", - "manual digit 1 plus metapodial segment", - "Hydrocephalus", - "Unilateral renal agenesis", - "anatomical entity atresia", + "Esophageal atresia", "esophagus atresia", - "organ subunit", - "neurogenesis", - "subdivision of trunk", "Chromosomal breakage induced by crosslinking agents", - "anatomical point", - "leg", - "Global developmental delay", - "female reproductive system", - "abnormal ear morphology", - "Abnormal internal genitalia", - "abnormal anatomical entity morphology in the brain", - "abnormal internal female genitalia morphology", + "Neurodevelopmental abnormality", + "abnormal kidney", + "abnormal reproductive system", + "Aplasia of the uterus", + "female organism", + "reproductive structure", "aplasia or hypoplasia of uterus", - "absent anatomical entity in the reproductive system", - "absent uterus", - "genitourinary system", - "Abnormality of the uterus", - "abnormal programmed DNA elimination by chromosome breakage", - "organism substance", - "reproductive organ", + "bone marrow cell", + "internal female genitalia", + "Abdominal symptom", + "Abnormal reproductive system morphology", + "Wide nasal bridge", + "abnormal internal female genitalia morphology", + "abnormal female reproductive system", + "female reproductive system", + "Abnormal morphology of female internal genitalia", + "oviduct", + "erythrocyte", "subdivision of oviduct", + "abnormal uterus", + "genitourinary system", "internal genitalia", - "female organism", - "Abnormality of brain morphology", - "Hypoplasia of penis", + "aplasia or hypoplasia of eyeball of camera-type eye", + "uterus", "abnormal reproductive system morphology", - "Micrognathia", - "abnormal internal genitalia", - "Abnormality of the genital system", + "Abnormality of the uterus", + "abnormal biological_process in nervous system", "absent anatomical entity in the ear", - "Renal agenesis", - "agenesis of anatomical entity", "absent external ear in the head", "absent external ear", "Anotia", - "thoracic segment organ", - "limb bone", - "visual system", "absent anatomical entity in the head", - "absent external ear in the independent continuant", - "decreased embryo development", - "decreased biological_process", - "Abnormal external genitalia", - "absent manual digit", - "changed embryo development rate", - "oligodendrocyte development", - "developmental process", - "abnormal embryo development", + "Hypoplastic male external genitalia", "anatomical structure development", - "abnormal anatomical entity morphology", + "decreased developmental process", + "decreased qualitatively developmental process", + "decreased embryo development", + "abnormal genitourinary system", "changed developmental process rate", + "abnormal embryo development", + "Intrauterine growth retardation", + "changed embryo development rate", "multicellular organism development", - "decreased qualitatively biological_process", - "decreased developmental process", - "negative regulation of macromolecule biosynthetic process", - "ear", - "Webbed neck", + "abnormal secondary palate morphology", + "abnormal developmental process", + "Aplasia/Hypoplasia of the radius", + "Aplasia/hypoplasia involving forearm bones", + "zeugopod", + "abnormal forelimb zeugopod bone", + "absent radius bone in the forelimb", + "arm bone", + "forelimb long bone", "aplastic forelimb zeugopod bone", - "absent forelimb zeugopod bone", + "abnormal erythroid lineage cell morphology", + "Abnormal morphology of the radius", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "embryo development", + "abnormal radius bone morphology", + "Aplasia involving forearm bones", + "Aplasia involving bones of the extremities", + "limb long bone", "abnormal limb long bone morphology", - "abnormal forelimb zeugopod bone", - "non-connected functional system", + "Abnormality of the female genitalia", "abnormal forelimb zeugopod morphology", - "paired limb/fin skeleton", - "abnormal long bone morphology", + "delayed biological_process in central nervous system", "Abnormal forearm bone morphology", - "absent anatomical entity in the forelimb", - "absent radius bone", - "forelimb bone", - "limb long bone", - "Abnormal morphology of the radius", - "abnormal respiratory tube morphology", - "radius endochondral element", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal nervous system morphology", - "Abnormal hindbrain morphology", - "Abnormal upper limb bone morphology", - "increased biological_process", - "arm bone", - "Aplasia involving bones of the extremities", - "abnormal nose", - "long bone", - "Abnormal forearm morphology", - "bone element hypoplasia in face", - "abnormal mandible morphology", + "absent forelimb zeugopod bone", + "Aplasia involving bones of the upper limbs", + "Aplasia/Hypoplasia of the cerebellum", + "forelimb zeugopod", + "forelimb zeugopod skeleton", + "abnormal facial skeleton morphology", + "abnormal nose", + "Aplasia/Hypoplasia of the mandible", + "abnormal jaw skeleton morphology", + "blood cell", + "Abnormality of the genitourinary system", + "head bone", + "Hypoplastic facial bones", "primary subdivision of skull", - "forelimb long bone", + "abnormal hematopoietic cell morphology", "primary subdivision of cranial skeletal system", - "aplasia or hypoplasia of external ear", - "Abnormal skull morphology", - "ventricle of nervous system", - "abnormal biological_process in independent continuant", - "Abnormal penis morphology", - "Abnormality of the mouth", - "anatomical entity hypoplasia in face", + "cranial skeletal system", + "dermal bone", "jaw skeleton", - "abnormal digit", + "facial skeleton", + "immune system", "facial bone", - "zeugopodial skeleton", "mandible", - "face", - "decreased size of the external male genitalia", - "absent kidney in the independent continuant", - "abnormal renal system morphology", - "abnormal skull morphology", - "facial bone hypoplasia", - "regulation of macromolecule biosynthetic process", - "anatomical space", - "abnormal respiratory system", - "oral cavity", - "aplasia or hypoplasia of mandible", - "Abnormality of the skeletal system", - "head bone", - "dermal skeletal element", + "anatomical entity hypoplasia in face", + "Abnormality of the genital system", + "intramembranous bone", + "Aplasia/Hypoplasia involving bones of the skull", "aplasia or hypoplasia of skull", - "jaw region", - "neural crest-derived structure", - "facial skeleton", - "skull", - "Abnormal facial skeleton morphology", - "bone of craniocervical region", - "abnormal face", - "Hypoplastic male external genitalia", - "abnormal incomplete closing of the secondary palate", - "organ", - "bone of jaw", - "membrane bone", + "Renal hypoplasia", "bone of lower jaw", - "abnormal secondary palate morphology", - "Aplasia/Hypoplasia of facial bones", - "Macule", - "abnormal reproductive system", - "Hypoplastic facial bones", - "negative regulation of cellular metabolic process", - "Decreased anatomical entity position", - "cell differentiation", - "abnormal location of ear", - "Abnormal location of ears", + "mandible hypoplasia", + "flat anatomical entity in independent continuant", + "mouth", + "abnormal mandible morphology", + "abnormal mouth", + "abnormal bone marrow cell morphology", + "bone of free limb or fin", + "Absent thumb", + "abnormal autopod region morphology", + "subdivision of organism along appendicular axis", + "paired limb/fin", + "skeleton of lower jaw", + "abnormal digit morphology", + "multi-limb segment region", + "Abnormality of digestive system physiology", + "absent anatomical entity", + "Aplasia/hypoplasia involving bones of the extremities", + "Abnormality of limb bone morphology", + "regulation of cellular metabolic process", + "appendage", + "Abnormal digit morphology", + "cellular process", + "Aplasia/Hypoplasia of fingers", + "delayed biological_process in independent continuant", + "digitopodium region", + "Anemia", + "radius bone", + "Abnormality of the hand", + "decreased size of the external ear", + "agenesis of anatomical entity", + "cell development", + "skeleton of manus", + "Hypertelorism", + "pectoral appendage skeleton", + "abnormal manus morphology", + "Hyperactivity", + "digit 1", + "abnormal vertebral column", + "abnormal size of kidney", + "Renal hypoplasia/aplasia", + "trunk or cervical vertebra", + "abnormal female reproductive system morphology", + "digit 1 plus metapodial segment", + "abnormal skeletal system", + "skeleton of limb", + "Delayed myelination", + "Abnormality of skin pigmentation", + "shape nose tip", + "Abnormality of globe location", + "Aplasia/Hypoplasia involving the central nervous system", + "Short neck", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", + "abnormal DNA metabolic process", + "postcranial axial skeleton", + "vertebral column", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "paired limb/fin skeleton", + "cervical vertebra", + "organ system subdivision", + "Abnormality of the anus", + "system", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "skeletal element", + "anatomical collection", + "All", + "increased qualitatively biological_process", + "membrane bone", + "abnormal cervical vertebra", "dentary", - "abnormal location of external ear", - "hindlimb", - "central nervous system myelination", - "digit 1 or 5", - "Talipes equinovarus", - "abnormal head bone morphology", - "abnormal leg", + "bone of dorsum", + "external soft tissue zone", + "digit plus metapodial segment", + "bone element", + "skeleton", + "skeletal system", "cervical vertebra endochondral element", - "posterior region of body", - "pes", - "pelvic complex", - "decreased qualitatively developmental process", - "abnormal hindlimb morphology", - "Talipes", - "limb endochondral element", - "zeugopod", - "lower limb segment", - "gliogenesis", - "Abnormal jaw morphology", - "abnormal camera-type eye morphology", - "Bilateral talipes equinovarus", - "All", - "organism", - "Microtia", + "decreased length of neck", + "Abnormality of the eye", "abnormal pes morphology", - "Positional foot deformity", - "growth", - "Growth abnormality", - "delayed growth", - "Irregular hyperpigmentation", - "skeletal system", - "delayed biological_process", - "anatomical line between pupils", - "Aplasia/Hypoplasia involving the central nervous system", - "eye", - "orbital region", - "oviduct", + "Abnormality of the musculoskeletal system", + "abnormal skeletal system morphology", + "segment of manus", + "protein-containing material entity", + "dorsum", + "cervical region", + "Abnormality of the vertebral column", + "Macule", + "decreased length of anatomical entity in independent continuant", + "abnormal size of anatomical entity", + "abnormal bone marrow cell", "trunk", - "Abnormality of globe location", - "ventricular system of brain", - "Hypertelorism", - "Aplasia/Hypoplasia of the thumb", - "abnormal radius bone morphology", - "bone of appendage girdle complex", - "skeleton of lower jaw", - "increased length of the anatomical line between pupils", - "digit 1", - "upper jaw region", - "forelimb zeugopod skeleton", - "aplasia or hypoplasia of ear", - "anatomical line", - "abnormal mouth", - "abnormal pigmentation in independent continuant", - "abnormal eyeball of camera-type eye", - "changed biological_process rate in independent continuant", - "eyeball of camera-type eye", - "increased size of the anatomical entity", - "pelvic appendage", - "increased anatomical entity length in independent continuant", - "negative regulation of gene expression", - "Growth delay", - "abnormal location of eyeball of camera-type eye", - "Abnormality of the upper limb", - "embryo development", - "camera-type eye", - "abnormal forelimb morphology", - "simple eye", - "Abnormality of the eye", - "abnormal orbital region", - "Abnormal reproductive system morphology", - "Morphological central nervous system abnormality", - "organ component layer", - "forelimb zeugopod", - "abnormal brain ventricle morphology", - "cerebrospinal fluid", - "Abnormal cerebrospinal fluid morphology", + "abnormal shape of continuant", + "nasal bridge", + "bone of pectoral complex", + "decreased length of anatomical entity", + "zeugopodial skeleton", + "abnormal cerebrospinal fluid morphology", + "Abnormal ear morphology", + "aplasia or hypoplasia of skeleton", + "organ", + "abnormal male reproductive organ morphology", + "occurrent", + "abnormal myelination", + "abnormal anatomical entity morphology in the pectoral complex", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "abnormal neck morphology", + "external male genitalia hypoplasia", + "brain ventricle/choroid plexus", + "external ear", "Aplasia/Hypoplasia of the ear", - "brain ventricle", - "decreased size of the cerebellum", - "acropodium region", - "ventricular system of central nervous system", - "Abnormality of skin morphology", - "brain ventricle/choroid plexus", - "abnormal brain ventricle/choroid plexus morphology", - "abnormal upper urinary tract", - "Aplasia/Hypoplasia of the sacrum", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "axon ensheathment in central nervous system", - "aplasia or hypoplasia of fused sacrum", - "multicellular organism", - "abnormal limb morphology", - "abnormal fused sacrum morphology", - "abnormal esophagus morphology", - "sacral region", - "abnormal immune system morphology", - "decreased size of the mandible", - "abnormal biological_process in central nervous system", - "abnormal DNA metabolic process", - "abnormal chromatin organization", + "sensory system", + "Abnormality of the outer ear", + "multi-tissue structure", + "bodily fluid", + "manual digit", + "Abnormal eye morphology", + "abnormal head morphology", + "Abnormality of head or neck", + "Abnormality of the neck", + "abnormal external male genitalia morphology", + "abnormal vertebral column morphology", + "Microtia", + "absent digit", + "Abnormal cellular phenotype", + "radius endochondral element", + "abnormal behavior", + "obsolete cellular aromatic compound metabolic process", + "multicellular organismal process", + "Abnormal forearm morphology", + "vertebra", + "Abnormal skeletal morphology", "forelimb", "autopodial skeleton", - "postcranial axial skeletal system", - "continuant", - "pectoral complex", - "anatomical entity", - "regulation of macromolecule metabolic process", - "subdivision of digestive tract", - "aplastic manual digit 1", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the manus", - "biological regulation", - "Aplasia/hypoplasia involving the skeleton", - "mesoderm-derived structure", - "bodily fluid", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal cellular physiology", - "Aplasia/hypoplasia of the uterus", - "central nervous system", - "abnormal cellular metabolic process", - "Finger aplasia", - "Abnormality of the vertebral column", - "digitopodium region", - "anatomical wall", - "abnormal ear", - "digit 1 plus metapodial segment", - "regulation of biological process", - "digit", - "abdominal segment of trunk", - "abnormal limb", - "abnormal arm", - "skeleton", - "anatomical cavity", - "Absent thumb", - "abnormal female reproductive system morphology", - "Abnormal digit morphology", - "abnormal axon ensheathment in central nervous system in independent continuant", - "tube", - "Decreased external ear position", - "Neoplasm by anatomical site", + "Abnormal facial skeleton morphology", + "material anatomical entity", + "abnormal metabolic process", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "Eukaryota", + "negative regulation of cellular metabolic process", "aplasia or hypoplasia of manual digit", - "appendicular skeletal system", - "Abnormality of the hand", - "absent anatomical entity in the skeletal system", - "abnormal midface morphology", - "abnormal appendicular skeleton morphology", - "Abnormal foot morphology", - "aplasia or hypoplasia of vertebral column", - "eyelid", - "delayed myelination", + "face", + "abnormal orbital region", + "Reduced impulse control", + "abnormal location of external ear", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "craniocervical region", + "Abnormality of the gastrointestinal tract", + "Talipes", + "Webbed neck", + "quality", + "behavior process", + "aplasia or hypoplasia of ear", + "absent external ear in the independent continuant", + "regulation of cellular biosynthetic process", + "proximo-distal subdivision of respiratory tract", + "glial cell development", + "anatomical space", + "Abnormal hindbrain morphology", + "phenotype", + "manual digit 1", + "regulation of metabolic process", "autopodial extension", - "digit plus metapodial segment", - "erythrocyte", - "abnormal opening of the anatomical entity", - "abnormal limb bone morphology", - "abnormal metabolic process", - "abnormal brain morphology", - "Phenotypic abnormality", - "flat nose tip", - "abnormal limb bone", - "brain", + "abnormal face", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", "manual digitopodium region", - "manus", - "skeleton of pectoral complex", - "Abnormality of the integument", - "paired limb/fin segment", - "Renal hypoplasia/aplasia", - "abnormal cervical vertebra", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormal thumb morphology", - "Eumetazoa", + "Abnormal respiratory system morphology", + "cervical region of vertebral column", + "pelvic region element", + "protein-containing complex organization", + "Abnormality of the palpebral fissures", + "organic cyclic compound metabolic process", "segment of autopod", - "flattened anatomical entity", - "upper limb segment", - "regional part of nervous system", - "shape anatomical entity", - "organelle organization", - "abnormal head", - "Abnormality of the nervous system", - "respiratory tract", - "abnormal myeloid cell morphology", - "sacral region of vertebral column", - "obsolete cell", - "male reproductive organ", - "reproductive structure", - "manual digit 1 or 5", - "abnormal cerebrospinal fluid morphology", - "upper digestive tract", - "abnormal trachea morphology", - "abnormal hematopoietic cell morphology", - "bone element hypoplasia in independent continuant", - "Aplasia/hypoplasia of the extremities", - "internal female genitalia", - "aplasia or hypoplasia of skeleton", - "forelimb skeleton", - "arm", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "aplastic anatomical entity", - "subdivision of organism along appendicular axis", - "increased size of the anatomical entity in independent continuant", - "absent anatomical entity in the independent continuant", - "Abnormal palate morphology", - "Abnormality of limb bone morphology", + "anatomical line between pupils", + "independent continuant", + "pelvic complex", + "abnormal growth", + "abnormal anatomical entity", + "abnormal external nose morphology", + "absent radius bone in the independent continuant", + "neck bone", + "entire sense organ system", + "continuant", + "Abnormality of the immune system", + "Abnormal nervous system physiology", + "Abnormal axial skeleton morphology", + "obsolete heterocycle metabolic process", + "abnormal chromatin organization", + "Chromosome breakage", + "process", + "nucleic acid metabolic process", + "Abnormal myeloid cell morphology", + "leg", + "Atypical behavior", + "cellular metabolic process", + "simple eye", + "endochondral element", + "abnormal neck", + "abnormal brain ventricle morphology", + "subdivision of skeleton", + "endochondral bone", "female reproductive organ", + "long bone", + "material entity", + "negative regulation of biosynthetic process", + "decreased size of the penis", + "Abnormality of the lower limb", + "forelimb zeugopod bone", + "nervous system", + "negative regulation of biological process", + "biological_process", + "absent kidney in the independent continuant", + "subdivision of skeletal system", + "entity", + "abnormal nitrogen compound metabolic process", "abdominal segment element", - "absent digit", - "absent anatomical entity in the limb", - "male reproductive system", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", + "ensheathment of neurons", + "regulation of cellular process", + "posterior region of body", + "pes", + "aplasia or hypoplasia of external ear", + "Abnormal tracheobronchial morphology", + "Abnormal neck morphology", + "negative regulation of gene expression", "response to stimulus", - "forelimb endochondral element", - "organism subdivision", - "vestibulo-auditory system", - "Metazoa", - "Abnormal ear morphology", - "anatomical entity hypoplasia", - "Aplasia/hypoplasia involving bones of the hand", - "Hyperpigmentation of the skin", - "decreased size of the external ear", - "Abnormal hand morphology", - "abnormal external ear", - "Aplasia/Hypoplasia of fingers", - "abnormal uterus", - "abnormal shape of continuant", - "abnormal manual digit morphology in the manus", - "abnormal autopod region morphology", - "postcranial axial skeleton", - "abnormal erythrocyte morphology", - "trunk bone", - "subdivision of head", - "entire sense organ system", - "pelvic region of trunk", - "Abnormality of the outer ear", - "abnormal external ear morphology", - "abnormal biological_process in nervous system", - "abnormal cell morphology", - "secondary palate", - "absent radius bone in the forelimb", - "Aplasia/Hypoplasia of the external ear", - "delayed central nervous system myelination", - "disconnected anatomical group", - "increased qualitatively biological_process in independent continuant", - "Abnormal pinna morphology", - "external ear hypoplasia", - "absent kidney in the renal system", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormal nasal tip morphology", - "Abnormality of the face", - "cellular component organization or biogenesis", - "anus", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal digit morphology", - "structure with developmental contribution from neural crest", - "limb", - "lateral structure", - "quality", - "abnormal digestive system morphology", - "Abdominal symptom", - "increased length of the anatomical entity", - "shape anatomical entity in independent continuant", - "flattened anatomical entity in independent continuant", - "anatomical entity hypoplasia in independent continuant", - "organic substance metabolic process", - "segment of manus", - "intramembranous bone", - "skeleton of limb", - "abnormal facial skeleton morphology", - "abnormal response to stimulus", - "blood cell", - "anatomical conduit", + "regulation of macromolecule metabolic process", + "Abnormality of the digestive system", + "abnormal nervous system", + "chromatin organization", + "Reduced attention regulation", + "abnormal shape of external ear", + "abnormal limb bone morphology", + "abnormality of nervous system physiology", + "absent anatomical entity in the skeletal system", + "Abnormal cellular physiology", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "absent anatomical entity in the limb", + "Abnormal mandible morphology", + "trachea", + "Abnormality of the skeletal system", + "upper jaw region", + "Abnormality of the ocular adnexa", + "Micrognathia", + "Attention deficit hyperactivity disorder", + "abnormal leg", + "Cleft palate", "behavior", - "phenotype", - "Abnormality of the head", - "tissue", + "Abnormal appendicular skeleton morphology", + "Depressed nasal tip", "Abnormality of mental function", - "manual digit plus metapodial segment", + "intromittent organ", "obsolete cellular nitrogen compound metabolic process", - "abnormal nervous system", - "abnormality of anatomical entity physiology", - "Reduced impulse control", - "uterus", - "digestive system", - "Reduced attention regulation", - "abnormal head morphology", - "abnormal organelle organization", - "head", - "abnormal behavior process", - "changed biological_process rate", - "tracheobronchial tree", - "protein-containing material entity", - "subdivision of skeleton", - "bone cell", - "nervous system development", - "biological_process", - "abnormal craniocervical region", - "pelvic region element", - "subdivision of organism along main body axis", - "abnormal respiratory system morphology", - "abnormal eyelid morphology", - "regulation of gene expression", - "Craniofacial cleft", - "Abnormality of the female genitalia", + "postcranial axial skeletal system", + "organelle organization", + "metabolic process", + "Abnormal nasal bridge morphology", + "erythroid lineage cell", + "non-material anatomical boundary", + "midface", + "abnormal cellular component organization", + "abnormal trachea morphology", + "abnormal opening of the anatomical entity", + "dorsal region element", + "body proper", "abnormal primary metabolic process", + "neck", + "decreased size of the cerebellum", + "abnormal phenotype by ontology source", + "subdivision of vertebral column", + "decreased size of the mandible", + "absent manual digit", + "abnormal development of anatomical entity", + "Abnormal thumb morphology", + "subdivision of trunk", + "abnormal limb bone", + "sense organ", + "Abnormal nervous system morphology", + "limb", + "increased size of the anatomical entity", + "absent anatomical entity in the reproductive system", + "abnormal number of anatomical enitites of type anatomical entity", + "limb bone", + "negative regulation of macromolecule biosynthetic process", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "lateral structure", + "regulation of biological process", + "decreased qualitatively biological_process", + "anatomical entity", + "abnormal head bone morphology", + "Abnormal pinna morphology", + "dorsal part of neck", + "abnormal cellular process", + "acropodium region", + "abnormally increased number of brain ventricle in the independent continuant", + "Abnormal anus morphology", + "male reproductive organ", + "disconnected anatomical group", + "abnormal cell", + "secondary palate", + "organism", + "irregular bone", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "Renal agenesis", + "abnormal respiratory system", + "decreased size of the anatomical entity in the independent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + "specifically dependent continuant", + "abnormal programmed DNA elimination by chromosome breakage", + "programmed DNA elimination by chromosome breakage", + "cellular component organization or biogenesis", "kidney hypoplasia", - "Abnormality of the neck", - "abnormal female reproductive organ morphology", - "Abnormality of metabolism/homeostasis", - "regulation of metabolic process", - "abnormality of nervous system physiology", - "Aplasia/hypoplasia involving forearm bones", - "behavior process", - "non-material anatomical boundary", - "Abnormality of digestive system morphology", - "negative regulation of biological process", - "organic cyclic compound metabolic process", - "cranial skeletal system", - "Renal hypoplasia", - "abnormal vertebral column morphology", - "abnormal developmental process", - "bone of pectoral complex", - "macromolecule metabolic process", - "obsolete heterocycle metabolic process", - "Abnormal sacrum morphology", - "dermal skeleton", - "immaterial entity", - "obsolete cellular aromatic compound metabolic process", - "aplasia or hypoplasia of manual digit 1", - "mandible hypoplasia", - "abnormal shape of external ear", - "skeleton of manus", - "abnormal neck", + "abnormal craniocervical region morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "abnormal renal system morphology", + "alimentary part of gastrointestinal system", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", "obsolete nitrogen compound metabolic process", - "olfactory organ", - "abnormal ocular adnexa", - "abnormal cellular process", + "aplastic manual digit 1", + "Abnormal sacrum morphology", + "cellular component organization", + "neurogenesis", "regulation of biosynthetic process", - "penis hypoplasia", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "regulation of cellular metabolic process", - "irregular bone", - "nucleobase-containing compound metabolic process", - "negative regulation of metabolic process", - "abnormal genitourinary system", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal closing of the anatomical entity", - "protein-containing complex organization", - "Attention deficit hyperactivity disorder", + "absent anatomical entity in the independent continuant", + "digit", + "anterior region of body", + "aplastic anatomical entity", + "Abnormal nasal morphology", + "absent anatomical entity in the multicellular organism", + "thoracic cavity element", + "Growth abnormality", + "axial skeletal system", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "anatomical system", + "upper digestive tract", + "abnormal bone of pectoral complex morphology", + "absent radius bone", + "orifice", + "multicellular organism", + "regulation of macromolecule biosynthetic process", + "Abnormality of metabolism/homeostasis", + "abnormal ear morphology", + "cellular organisms", + "Decreased anatomical entity position", + "main body axis", + "Absent forearm bone", + "abnormal manual digit 1 morphology", + "eyelid", + "Abnormality of the ear", + "orbital region", + "protein-DNA complex organization", + "vestibulo-auditory system", + "non-connected functional system", + "Aplasia/hypoplasia of the extremities", + "forelimb bone", + "anatomical entity hypoplasia", + "head", + "abnormal eyelid morphology", + "manus", + "curvature anatomical entity in independent continuant", "negative regulation of cellular process", - "abnormal cellular component organization", - "programmed DNA elimination", + "abnormal limb", + "Abnormality of digestive system morphology", + "ear", + "organism subdivision", + "shape anatomical entity", + "ventricular system of brain", + "anatomical entity hypoplasia in independent continuant", + "abnormal central nervous system myelination", + "organ subunit", + "negative regulation of cellular biosynthetic process", "appendage girdle complex", - "abnormal anatomical entity topology in independent continuant", - "skin of body", - "multi-tissue structure", - "Aplasia/Hypoplasia of the mandible", - "abnormal biological_process", - "abnormal nitrogen compound metabolic process", - "radius bone", - "bone of dorsum", - "central nervous system development", - "bone element", - "abnormal cell", - "Aplasia of the uterus", - "Abnormal eyelid morphology", - "organ system subdivision", - "process", - "Abnormality of chromosome stability", - "abnormal neck morphology", + "subdivision of head", + "Abnormality of brain morphology", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "forelimb skeleton", + "abnormal anatomical entity morphology in the appendage girdle complex", + "pigmentation", + "dermal skeleton", + "aplasia or hypoplasia of manual digit 1", "Abnormality of limbs", - "regulation of cellular biosynthetic process", - "DNA metabolic process", - "abnormal jaw skeleton morphology", - "immaterial anatomical entity", - "endochondral element", - "negative regulation of macromolecule metabolic process", - "abnormal penis morphology", - "Neurodevelopmental abnormality", - "respiratory tube", - "pectoral appendage skeleton", - "abdomen element", - "Abnormality of the orbital region", - "vertebral column", - "Abnormal cellular phenotype", - "subdivision of tube", - "fused sacrum hypoplasia", - "ectoderm-derived structure", - "abnormality of respiratory system physiology", - "Abnormal anus morphology", - "sense organ", - "Abnormality of limb bone", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Aplasia/hypoplasia involving the skeleton", + "abnormal anatomical entity morphology in the manus", + "Finger aplasia", + "abdomen", + "manual digit 1 plus metapodial segment", + "trunk bone", + "bone of appendage girdle complex", + "anatomical wall", + "lower jaw region", + "abnormal digit", "thoracic segment of trunk", - "Aplasia/Hypoplasia involving the vertebral column", - "absent anatomical entity in the multicellular organism", - "increased biological_process in skin of body", - "abnormal growth", - "respiratory system", - "Aplasia/Hypoplasia of the radius", - "Atypical behavior", - "Abnormal eye morphology", - "Abnormality of head or neck", - "trachea", - "mouth", - "decreased size of the eyeball of camera-type eye", - "Abnormality of the digestive system", - "immune system", - "organ part", - "abnormal external male genitalia", - "digestive tract", - "decreased length of anatomical entity", - "Gastrointestinal atresia", - "abnormal tracheobronchial tree morphology", - "abnormal alimentary part of gastrointestinal system", - "midface", - "segmental subdivision of hindbrain", - "Abnormal tracheal morphology", - "Abnormality of the urinary system", - "Low-set ears", - "aplasia or hypoplasia of cerebellum", - "Abnormal nasal bridge morphology", - "Short attention span", - "aplasia or hypoplasia of eyeball of camera-type eye", - "independent continuant", + "abnormal arm", + "arm", + "limb segment", + "increased qualitatively biological_process in independent continuant", + "Aplasia/Hypoplasia of the thumb", + "dermatocranium", + "pectoral complex", + "paired limb/fin segment", + "axon ensheathment in central nervous system", + "compound organ", + "eye", + "cell differentiation", + "appendicular skeletal system", + "Abnormal palate morphology", + "skeleton of pectoral complex", + "appendicular skeleton", + "Unilateral renal agenesis", + "Abnormal cerebellum morphology", + "upper limb segment", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "developmental process", + "negative regulation of metabolic process", "abdominal segment bone", - "endoderm-derived structure", - "Abnormal respiratory system morphology", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Abnormal erythroid lineage cell morphology", + "manual digit 1 or 5", + "autopod region", + "Micropenis", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "Abnormality of chromosome stability", + "immaterial entity", + "anatomical conduit", + "abnormal limb morphology", + "mesoderm-derived structure", + "nucleobase-containing compound metabolic process", + "Short attention span", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "abnormal internal genitalia", + "aplasia or hypoplasia of vertebral column", + "reproductive system", + "sacral region", + "fused sacrum hypoplasia", + "abnormal fused sacrum morphology", + "Global developmental delay", + "biological regulation", + "abdominal segment of trunk", + "macromolecule metabolic process", + "pelvic region of trunk", + "palpebral fissure", + "bone element hypoplasia in independent continuant", + "abnormal penis morphology", + "hindlimb", + "aplasia or hypoplasia of fused sacrum", + "Aplasia/Hypoplasia of the sacrum", "Delayed CNS myelination", - "transudate", + "fused sacrum", + "abnormal craniocervical region", + "sacral region of vertebral column", + "Abnormal upper limb bone morphology", + "skin of body", + "bony pelvis", + "skull", + "limb skeleton subdivision", + "Aplasia/Hypoplasia involving the vertebral column", + "Aplasia/Hypoplasia of facial bones", + "musculoskeletal system", + "abnormal cellular metabolic process", + "Hypoplastic sacrum", + "abnormal organelle organization", + "abnormal respiratory system morphology", + "vertebral element", + "viscus", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "Neoplasm", "Tracheoesophageal fistula", - "Abnormality of the gastrointestinal tract", - "esophagus", - "Aplasia/Hypoplasia involving bones of the skull", - "abnormal digestive system", - "abnormal manus", - "anterior region of body", - "abnormal skeletal system", + "Abnormal jaw morphology", + "abnormal ear", + "Low-set ears", + "abnormal esophagus morphology", + "abnormal bone marrow morphology", + "flat anatomical entity", + "lower respiratory tract", + "abnormality of respiratory system physiology", + "abnormal pigmentation in independent continuant", + "abnormal respiratory tube morphology", + "Abnormal tracheal morphology", + "organ part", + "regulation of gene expression", + "pectoral appendage", + "respiratory system", + "obsolete cell", + "programmed DNA elimination", + "digestive system", + "subdivision of tube", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", "Abnormality of the respiratory system", - "dermal bone", - "proximo-distal subdivision of respiratory tract", - "reproductive system", + "Aplasia/Hypoplasia of the external ear", + "trunk region element", + "endoderm-derived structure", + "abnormal female reproductive organ morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "tracheobronchial tree", + "pelvic appendage", + "thoracic segment organ", "Abnormal esophagus morphology", - "increased pigmentation in skin of body", - "manual digit 1", - "cellular process", - "abnormal nasal bridge morphology", - "dorsal part of neck", - "integumental system", - "viscus", - "abnormal manual digit morphology in the independent continuant", + "abnormal tracheobronchial tree morphology", + "abnormal forelimb morphology", + "abnormal digestive system morphology", + "penis", "digestive system element", - "trunk or cervical vertebra", - "abnormal central nervous system morphology", - "increased width of nasal bridge", - "Abnormal renal morphology", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "increased qualitatively biological_process", - "Wide nasal bridge", - "abnormal alimentary part of gastrointestinal system morphology", - "Abnormal cerebral ventricle morphology", - "abnormal nervous system morphology", - "abnormal female reproductive system", + "kidney", + "abnormal biological_process", + "Growth delay", + "abnormal nose tip morphology", + "alimentary part of gastrointestinal system atresia", + "respiratory tract", + "respiratory tube", + "forelimb endochondral element", + "primary metabolic process", + "Abnormality of the skin", + "abnormal alimentary part of gastrointestinal system", + "oral cavity", "Morphological abnormality of the gastrointestinal tract", - "anatomical structure", - "abnormally increased number of anatomical entity in the independent continuant", - "external ear", - "occurrent", - "abnormal skeletal system morphology", - "anatomical collection", - "cerebellum", - "dorsal region element", - "nose tip", - "skeletal element", - "abnormal external male genitalia morphology", - "Abnormality of bone marrow cell morphology", - "Abnormality of the cervical spine", - "body proper", - "external soft tissue zone", - "Abnormal skeletal morphology", - "vertebra", - "axial skeleton plus cranial skeleton", - "main body axis", - "manual digit", - "Abnormal erythrocyte morphology", - "Chromosome breakage", - "Abnormal neck morphology", - "lower jaw region", - "multi-limb segment region", - "abnormal vertebral column", - "abnormal anatomical entity", - "abnormal behavior", - "Aplasia/Hypoplasia of the cerebellum", - "primary metabolic process", - "multicellular organismal process", - "cellular component organization", - "shape nose tip", - "craniocervical region", - "programmed DNA elimination by chromosome breakage", - "neck", - "abnormal nose tip morphology", - "dorsum", - "Neoplasm", - "appendicular skeleton", - "abnormal skin of body", - "Microphthalmia", - "segmental subdivision of nervous system", - "autopod region", - "compound organ", - "abnormal bone of pectoral complex morphology", - "protein-DNA complex organization", - "fused sacrum", - "alimentary part of gastrointestinal system", - "Abnormality of the lower limb", - "bony pelvis", - "sensory system", - "chromatin organization", - "Hypoplastic sacrum", - "cervical vertebra", - "alimentary part of gastrointestinal system atresia", - "Abnormal mandible morphology", + "Abnormal respiratory system physiology", + "tube", + "respiratory airway", + "digestive tract", + "central nervous system development", + "hemolymphoid system", + "esophagus", + "Abnormal location of ears", + "subdivision of digestive tract", + "delayed biological_process", + "Abnormality of the cervical spine", + "abnormal digestive system", + "cerebrospinal fluid", + "Abnormality of the head", + "organic substance metabolic process", + "abnormal pigmentation", + "Hydrocephalus", + "male organism", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "Abnormal cell morphology", + "lower limb segment", + "abnormal brain morphology", + "aplasia or hypoplasia of cerebellum", + "abnormally increased number of anatomical entity in the independent continuant", + "Abnormality of the urinary system", + "abnormal anus morphology", + "Morphological central nervous system abnormality", + "organ component layer", + "organism substance", + "Abnormality of limb bone", + "central nervous system", + "ventricular system of central nervous system", "abnormally increased number of anatomical entity", - "Aplasia/hypoplasia involving bones of the extremities", - "axial skeletal system", - "entity", - "Abnormal tracheobronchial morphology", - "specifically dependent continuant", - "abnormal development of anatomical entity", - "trunk region element", - "Abnormality of the musculoskeletal system", - "Abnormal nasal morphology", - "abnormal anatomical entity length", - "abnormal mouth morphology", - "decreased length of neck", - "negative regulation of cellular biosynthetic process", - "aplasia or hypoplasia of anatomical entity", - "forelimb zeugopod bone", - "anatomical system", - "bone of free limb or fin", + "abnormal central nervous system morphology", + "transudate", + "Cafe-au-lait spot", + "increased length of the anatomical entity", + "Absent radius", + "Abnormal cerebrospinal fluid morphology", + "myelination", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "abnormal nervous system morphology", + "bone of craniocervical region", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "Microphthalmia", + "abnormal external ear morphology", + "Positional foot deformity", + "external ear hypoplasia", + "abnormal brain ventricle/choroid plexus morphology", + "anatomical point", + "ventricle of nervous system", + "subdivision of organism along main body axis", + "dermal skeletal element", + "Gastrointestinal atresia", + "abnormal location of anatomical entity", + "abnormal location of ear", + "abnormal ocular adnexa", + "Decreased external ear position", + "abnormal anatomical entity topology in independent continuant", + "abnormal integument", + "brain ventricle", + "eyeball of camera-type eye", + "abnormal anatomical entity morphology", + "increased pigmentation", + "external nose", + "changed biological_process rate", + "increased biological_process in skin of body", + "abnormal external ear", + "increased biological_process", + "decreased size of the anatomical entity", + "abnormal biological_process in independent continuant", "Neurodevelopmental delay", - "decreased size of the anatomical entity in the independent continuant", - "Abnormal nervous system physiology", - "metabolic process", - "Hyperactivity", - "Aplasia involving forearm bones", - "cerebellum hypoplasia", - "Short neck", - "abnormal phenotype by ontology source", + "abnormal skin of body", + "increased size of the anatomical entity in independent continuant", + "Abnormality of the integument", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", + "integumental system", + "integument", + "changed biological_process rate in independent continuant", + "increased biological_process in independent continuant", + "abnormal skin of body morphology", + "neural crest-derived structure", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "abnormal hindlimb morphology", + "increased pigmentation in independent continuant", + "Abnormal oral morphology", + "abnormal response to stimulus", + "abnormal closing of the anatomical entity", + "abnormal anus", + "Abnormal CNS myelination", + "immaterial anatomical entity", + "penis hypoplasia", + "limb endochondral element", + "Anal atresia", + "visual system", + "Abnormal eyelid morphology", + "absent uterus", + "ectoderm-derived structure", + "Slanting of the palpebral fissure", + "increased length of the anatomical line between pupils", + "multi organ part structure", + "roof of mouth", + "Abnormality of the orbital region", + "camera-type eye", + "reproductive organ", + "abnormal skull morphology", + "anus atresia", + "abnormal palpebral fissure", + "Abnormal ocular adnexa morphology", + "manual digit plus metapodial segment", + "Upslanted palpebral fissure", + "ocular adnexa", + "Abnormality of the face", + "abnormal face morphology", "phenotype by ontology source", + "abnormal ocular adnexa morphology", + "delayed growth", + "increased anatomical entity length in independent continuant", + "abnormal eyeball of camera-type eye", + "anatomical line", + "abnormal location of eyeball of camera-type eye", + "absent kidney in the renal system", + "Hypermelanotic macule", + "Abnormal foot morphology", + "Talipes equinovarus", + "Aplasia/hypoplasia of the uterus", + "Hyperpigmentation of the skin", + "Bilateral talipes equinovarus", + "flattened anatomical entity", + "abnormal manus", + "bone element hypoplasia in face", + "segmental subdivision of hindbrain", + "digit 1 or 5", + "bone of jaw", + "facial bone hypoplasia", "cell", - "cellular metabolic process", - "dermatocranium", - "abnormal size of anatomical entity", - "appendage", - "subdivision of vertebral column", - "upper urinary tract", - "abnormally increased number of brain ventricle in the independent continuant", - "decreased length of anatomical entity in independent continuant", - "endochondral bone", - "cervical region of vertebral column", - "regulation of cellular process", - "decreased size of the anatomical entity", - "musculoskeletal system", - "material entity", - "subdivision of skeletal system", - "Absent radius", - "nucleic acid metabolic process", - "abnormal external nose morphology", - "abnormal postcranial axial skeleton morphology", - "vertebral element", - "Absent forearm bone", - "material anatomical entity", - "cervical region", - "Aplasia involving bones of the upper limbs", - "system", - "limb skeleton subdivision", - "abnormal manus morphology", - "neck bone", - "Abnormality of the ear", - "negative regulation of biosynthetic process", - "cellular organisms", - "aplasia or hypoplasia of radius bone", + "Abnormality of the mouth", + "anus", + "Abnormal skull morphology", + "aplasia or hypoplasia of mandible", + "abnormal head", + "jaw region", + "abnormal male reproductive system", + "abnormal mouth morphology", ], "has_phenotype_count": 36, "highlight": None, @@ -3610,15 +3610,14 @@ def autocomplete(): "iri": None, "namespace": "MONDO", "has_phenotype": [ + "HP:0000086", "HP:0001875", + "HP:0009777", "HP:0001249", - "HP:0000086", "HP:0000252", - "HP:0000953", - "HP:0000081", - "HP:0003214", + "HP:0001627", + "HP:0000957", "HP:0000815", - "HP:0009777", "HP:0000104", "HP:0001017", "HP:0001876", @@ -3633,26 +3632,26 @@ def autocomplete(): "HP:0003221", "HP:0009943", "HP:0000978", - "HP:0001627", - "HP:0000957", + "HP:0000953", "HP:0001903", "HP:0001909", + "HP:0000081", "HP:0004322", "HP:0000486", "HP:0000365", + "HP:0003214", "HP:0003213", "HP:0000085", ], "has_phenotype_label": [ + "Ectopic kidney", "Neutropenia", + "Absent thumb", "Intellectual disability", - "Ectopic kidney", "Microcephaly", - "Hyperpigmentation of the skin", - "Duplicated collecting system", - "Prolonged G2 phase of cell cycle", + "Abnormal heart morphology", + "Cafe-au-lait spot", "Hypergonadotropic hypogonadism", - "Absent thumb", "Renal agenesis", "Anemic pallor", "Pancytopenia", @@ -3667,1606 +3666,1607 @@ def autocomplete(): "Chromosomal breakage induced by crosslinking agents", "Complete duplication of thumb phalanx", "Bruising susceptibility", - "Abnormal heart morphology", - "Cafe-au-lait spot", + "Hyperpigmentation of the skin", "Anemia", "Leukemia", + "Duplicated collecting system", "Short stature", "Strabismus", "Hearing impairment", + "Prolonged G2 phase of cell cycle", "Deficient excision of UV-induced pyrimidine dimers in DNA", "Horseshoe kidney", ], "has_phenotype_closure": [ - "UPHENO:0041075", - "UPHENO:0041465", + "UPHENO:0041226", + "HP:0000085", + "UPHENO:0082444", "UPHENO:0082129", "UPHENO:0041629", + "UPHENO:0041465", "HP:0003254", + "HP:0003213", + "UPHENO:0049964", + "UPHENO:0051124", "GO:0051716", - "UPHENO:0049671", - "GO:0006974", + "GO:0006950", + "GO:0051319", + "GO:0007049", + "GO:0050954", + "UPHENO:0041075", + "GO:0007600", + "HP:0000598", + "GO:0007605", + "UPHENO:0050625", "HP:0000364", + "UPHENO:0005518", "UPHENO:0052970", "UBERON:0002105", - "UPHENO:0005518", - "UPHENO:0002240", - "UBERON:0000015", - "UPHENO:0080300", - "UPHENO:0079826", + "NBO:0000338", "UPHENO:0049586", - "HP:0000496", + "HP:0000708", + "UPHENO:0049622", + "GO:0007610", + "HP:0000486", + "UBERON:0006800", "BFO:0000141", - "NBO:0000001", - "NBO:0000338", + "HP:0000549", + "HP:0000496", + "NBO:0000444", + "UBERON:0010222", "UPHENO:0079828", + "UPHENO:0080585", + "GO:0050896", + "HP:0011018", + "UBERON:0000015", + "UBERON:0000466", + "UPHENO:0081424", + "UPHENO:0000543", + "UPHENO:0081423", "UPHENO:0080351", "UPHENO:0075159", - "UPHENO:0080352", - "HP:0002664", - "HP:0011793", + "HP:0000081", + "UPHENO:0075787", + "HP:0001909", "HP:0004377", - "HP:0001510", - "HP:0011355", - "HP:0007400", - "HP:0012733", - "HP:0000957", - "UBERON:0005178", - "UBERON:0015410", - "UPHENO:0076776", - "UBERON:0005181", - "UPHENO:0076810", - "GO:0003013", + "HP:0011793", + "HP:0002664", "UBERON:0000477", - "UPHENO:0080362", - "UBERON:0002049", "GO:0008015", - "UPHENO:0051097", - "HP:0001933", - "HP:0030680", + "HP:0001892", "HP:0011029", + "HP:0002597", "UPHENO:0002678", - "UPHENO:0021800", - "HP:0001034", - "HP:0009997", - "HP:0009942", - "UBERON:0012150", - "UBERON:0012358", + "GO:0003013", + "HP:0000978", + "UPHENO:0051097", + "HP:0001933", + "UBERON:0007798", + "UPHENO:0084447", + "HP:0009602", + "UBERON:0003221", + "UBERON:0012357", + "HP:0011314", + "HP:0009943", + "UBERON:0015023", "UBERON:0015024", "UBERON:5101463", - "UPHENO:0020041", + "UPHENO:0087369", + "HP:0009942", + "UPHENO:0021800", + "GO:0022403", "UBERON:0004249", - "UBERON:0003620", + "UBERON:5106048", "UBERON:5102389", "UBERON:0010688", - "UBERON:0012151", - "HP:0004275", - "GO:0010558", - "GO:0019222", - "GO:0006139", - "GO:0007605", - "GO:0046483", - "GO:0006725", - "HP:0040012", - "UPHENO:0050845", - "UPHENO:0049990", - "UPHENO:0049873", - "GO:0031049", - "UBERON:0010543", - "GO:0065007", - "UPHENO:0049748", - "UPHENO:0049700", - "GO:0071840", - "UPHENO:0050113", - "UBERON:0010222", "GO:0010556", - "GO:0016043", + "GO:0031326", "GO:0009890", + "HP:0011276", + "UBERON:0005897", "GO:0010605", + "GO:0031324", + "GO:0006259", + "GO:0071824", + "GO:0065007", + "UPHENO:0080581", + "UPHENO:0050021", + "GO:0010629", + "GO:0051325", "GO:0060255", + "GO:0009889", + "GO:0031323", + "UBERON:0004100", + "GO:0009892", + "UBERON:0012150", "GO:0090304", - "GO:0006996", - "GO:0043933", + "UPHENO:0050116", + "HP:0003221", + "UPHENO:0049990", + "UPHENO:0050121", + "GO:0005623", + "UPHENO:0049700", + "UPHENO:0000541", + "UBERON:0001436", + "GO:0010468", + "NBO:0000313", + "GO:0010558", + "GO:0031327", + "GO:0006325", + "GO:0019222", + "HP:0011354", + "GO:0006139", + "GO:0046483", + "HP:0001939", + "UPHENO:0050845", + "HP:0003220", "GO:0050789", "GO:0044238", + "HP:0031704", 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- "UPHENO:0015280", - "UPHENO:0000543", - "UPHENO:0050116", - "UBERON:0002471", - "UPHENO:0076718", - "UBERON:0010323", - "UPHENO:0002219", - "NCBITaxon:131567", - "UPHENO:0087123", - "UPHENO:0085042", - "UPHENO:0085354", - "UPHENO:0081423", - "HP:0001909", - "UPHENO:0003020", - "UBERON:0010712", - "GO:0022403", - "UPHENO:0085118", + "HP:0001626", + "UBERON:0001009", + "UBERON:0000948", + "UPHENO:0005016", + "UBERON:0007100", "NCBITaxon:6072", + "UPHENO:0076776", + "UBERON:0000915", + "UBERON:0005181", + "HP:0030680", + "UPHENO:0080221", + "HP:0001034", + "HP:0004275", + "UBERON:0010314", + "HP:0001873", + "UPHENO:0080662", + "UBERON:0002417", + "UPHENO:0074572", + "UPHENO:0082682", + "HP:0033127", + "HP:0007400", + "UBERON:0002416", + "UBERON:0002102", + "UPHENO:0003811", + "UBERON:0000481", + "HP:0000957", + "HP:0009823", + "HP:0011121", + "HP:0000002", + "UPHENO:0076740", + "HP:0000953", + "UBERON:0004710", + "UPHENO:0088162", + "UPHENO:0074589", "GO:0050794", - "HP:0000104", - "GO:0050890", - "HP:0000486", - "UPHENO:0004459", + "UPHENO:0085875", + "UBERON:0003460", + "HP:0012733", + "UPHENO:0026023", + "HP:0001574", + "RO:0002577", + "HP:0000951", + "UPHENO:0085076", + "GO:0043473", + "HP:0011028", + "UBERON:0010712", + "HP:0000080", + "UPHENO:0003055", + "UBERON:0005156", + "UPHENO:0080126", + "UBERON:0015204", + "UPHENO:0003020", + "UBERON:0005944", + "UBERON:0000991", "HP:0001903", - "UPHENO:0076779", - "UBERON:0003133", - "UBERON:0001016", - "HP:0005922", - "GO:0050877", - "HP:0000081", - "HP:0000271", - "UPHENO:0085371", - "UBERON:0006058", - "GO:0009889", - "CL:0000219", - "UPHENO:0087355", - "UPHENO:0084928", - "UBERON:0002193", - "HP:0032309", - "UPHENO:0086019", - "UBERON:0001017", - "HP:0031704", - "UPHENO:0085189", - "UBERON:0002101", - "UPHENO:0049952", - "UBERON:0009569", - "UBERON:0007798", - "UPHENO:0077426", - "HP:0032251", - "UBERON:0002204", - "UBERON:0011143", - "UBERON:0013701", - "HP:0010987", - "UPHENO:0086045", - "UPHENO:0002406", - "BFO:0000001", - "UPHENO:0060026", + "UPHENO:0004459", + "UPHENO:0003116", + "UPHENO:0066972", + "HP:0000818", + "UBERON:0000990", + "HP:0008373", "HP:0000118", - "UBERON:0001690", - "UPHENO:0063722", - "HP:0011297", - "UPHENO:0075696", - "UPHENO:0076692", - "HP:0000085", - "UBERON:0019221", - "HP:0000135", - "UPHENO:0087472", - "BFO:0000020", - "HP:0003213", - "HP:0002715", - "HP:0010974", - "HP:0009142", - "UPHENO:0001002", - "CL:0000775", - "UBERON:0001442", - "UPHENO:0002803", - "HP:0009822", - "UBERON:0010538", - "CL:0000233", - "HP:0000028", - "UBERON:0015212", - "CL:0000738", - "UPHENO:0035025", - "HP:0025354", - "UPHENO:0006910", - "UBERON:0000970", - "UPHENO:0088338", - "UBERON:0004120", - "UPHENO:0001001", - "UPHENO:0088176", - "CL:0002422", - "UBERON:0001062", - "UPHENO:0082444", + "HP:0001876", + "UPHENO:0024906", + "HP:0000078", + "UPHENO:0082875", + "HP:0011355", + "HP:0000104", + "UPHENO:0008593", + "UPHENO:0026980", + "GO:1901360", + "HP:0000980", + "UBERON:0000061", + "UPHENO:0025211", + "HP:0025461", + "UPHENO:0009399", + "CL:0000232", + "UBERON:0004375", + "HP:0011873", "UPHENO:0054261", - "UPHENO:0086016", - "HP:0000978", - "UBERON:0002405", - "UPHENO:0020584", - "NBO:0000444", - "HP:0009777", - "HP:0001939", - "CL:0000763", - "UPHENO:0086005", - "HP:0000707", - "HP:0001911", - "UPHENO:0059829", - "UPHENO:0087802", - "UBERON:0000489", - "UBERON:0000153", + "NCBITaxon:131567", + "HP:0001017", + "UPHENO:0087089", + "CL:0000764", + "UBERON:0001474", + "CL:0000329", + "UBERON:0001690", + "UBERON:0015410", + "UPHENO:0086173", + "CL:0000457", + "UPHENO:0086045", + "HP:0011875", + "UPHENO:0087355", + "UPHENO:0087339", + "UBERON:0011584", + "UPHENO:0084987", + "UPHENO:0085042", + "HP:0012145", "UPHENO:0084761", - "UPHENO:0052178", - "NCBITaxon:2759", - "UBERON:0000468", - "UBERON:0010741", - "HP:0000815", - "CL:0000094", - "HP:0011314", - "UPHENO:0085984", - "HP:0001507", + "HP:0001872", + "CL:0000458", + "CL:0000151", + "UPHENO:0081755", + "UBERON:0002471", + "UPHENO:0026028", + "UPHENO:0084928", + "UPHENO:0085302", + "GO:0048519", + "UBERON:0006058", + "UPHENO:0085874", "HP:0001871", - "UBERON:5106048", - "UBERON:0001463", - "GO:0043170", - "UPHENO:0002433", - "UBERON:0000061", - "UBERON:0015203", - "UBERON:0007100", - "UPHENO:0085330", - "UPHENO:0085344", - "UBERON:0002389", - "GO:0009892", - "UPHENO:0088335", + "UBERON:0000079", "UPHENO:0086201", - "UBERON:0002513", - "GO:0050896", - "UBERON:0000475", - "UBERON:0000467", - "UBERON:0015204", - "UPHENO:0024906", - "HP:0002818", - "HP:0012759", - "UBERON:0006048", - "GO:0008152", - "UBERON:0000073", - "HP:0003221", - "BFO:0000004", - "UBERON:0000047", - "UPHENO:0026023", - "HP:0000929", - "UPHENO:0085068", - "GO:0043473", - "BFO:0000040", - "CL:0000081", - "UBERON:0019231", - "GO:0031323", - "UPHENO:0086002", - "UBERON:0011249", - "UPHENO:0085076", - "UPHENO:0080099", - "HP:0000953", - "UPHENO:0087089", - "HP:0000032", - "UBERON:0004288", - "UBERON:0012354", - "UPHENO:0088162", + "HP:0001000", + "UPHENO:0080382", + "GO:0003006", + "HP:0004742", + "UBERON:0003620", + "HP:0012130", + "CL:0000300", "UPHENO:0005597", - "UPHENO:0002378", - "UPHENO:0082875", - "UPHENO:0076723", - "UBERON:0005156", - "UPHENO:0085195", - "CL:0000000", - "UBERON:0000465", - "HP:0003220", - "UBERON:0000026", + "CL:0000586", + "UPHENO:0052231", + "HP:0000028", + "HP:0001627", + "UPHENO:0049970", + "GO:0000003", + "HP:0000811", + "HP:0005918", + "HP:0012243", + "UPHENO:0085356", + "GO:0019953", + "HP:0001172", + "UBERON:0011676", + "HP:0002973", + "HP:0000025", + "HP:0001510", + "UPHENO:0086023", + "UBERON:0004288", + "UPHENO:0002830", + "UBERON:0015228", + "CL:0000015", + "UPHENO:0076941", + "UPHENO:0002764", + "UPHENO:0002597", + "UBERON:0011216", + "UBERON:0004175", + "UBERON:0004176", + "UPHENO:0076799", + "HP:0000119", + "UPHENO:0081511", + "HP:0008669", + "HP:0000035", + "HP:0004322", + "UPHENO:0087973", + "UPHENO:0086198", + "UPHENO:0079826", + "UBERON:0004122", + "UPHENO:0002595", + "CL:0000413", + "CL:0000039", + "UPHENO:0086635", + "HP:0000240", + "HP:0000812", + "UBERON:0015021", + "UBERON:0002386", + "UPHENO:0002332", + "HP:0012874", + "UPHENO:0041821", + "HP:0009825", + "UPHENO:0052778", + "GO:0050877", + "HP:0011927", + "UBERON:0015063", + "UPHENO:0078729", "UBERON:0000463", - "CL:0000225", - "UPHENO:0001003", + "UPHENO:0078452", + "UPHENO:0053298", + "HP:0001249", + "UBERON:0001968", + "GO:0048609", + "HP:0003953", + "UBERON:0000473", + "UPHENO:0086005", + "UBERON:0004053", + "UBERON:0000955", + "UBERON:0010703", + "UBERON:0010912", + "CL:0000094", + "HP:0040072", + "UPHENO:0086956", + "GO:0071840", + "HP:0002813", + "HP:0002818", + "UPHENO:0079872", + "UPHENO:0009341", + "GO:0006725", + "UPHENO:0087501", + "UBERON:0013702", + "UPHENO:0080187", + "UBERON:0002405", + "UPHENO:0021561", + "UBERON:0003606", + "UBERON:0002104", + "HP:0006503", + "HP:0009142", + "UBERON:0004535", + "UPHENO:0002751", + "UBERON:0002495", + "UBERON:0001423", + "UBERON:0010741", + "UPHENO:0069254", + "UBERON:0000949", + "UBERON:0003466", + "HP:0001911", + "UBERON:0006048", + "UPHENO:0025945", + "UPHENO:0005651", + "UPHENO:0076718", + "HP:0040070", + "UPHENO:0008668", + "UPHENO:0068971", + "UPHENO:0046411", + "HP:0004325", + "UPHENO:0031839", ], "has_phenotype_closure_label": [ - "abnormal shape of continuant", - "concave 3-D shape anatomical entity", + "shape anatomical entity", "Horseshoe kidney", "3-D shape anatomical entity", - "shape anatomical entity in independent continuant", - "abnormal DNA damage response", - "DNA damage response", + "U-shaped anatomical entity", + "DNA repair", "Deficient excision of UV-induced pyrimidine dimers in DNA", - "cellular response to stimulus", - "Abnormality of DNA repair", - "decreased sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "Abnormal ear physiology", - "Abnormality of the ear", - "abnormality of ear physiology", + "abnormal response to stress", + "abnormal cellular response to stress", "abnormal DNA repair", + "response to stress", + "cell cycle phase", + "Abnormality of the cell cycle", + "G2 phase", + "decreased qualitatively sensory perception of mechanical stimulus", + "decreased sensory perception of sound", + "abnormal ear", + "abnormal sensory perception", "Hearing abnormality", - "non-material anatomical boundary", - "abnormal behavior", - "response to stimulus", - "eye movement", + "ear", + "sensory perception of sound", + "body part movement", + "concave 3-D shape anatomical entity", + "Abnormality of eye movement", "anatomical line", + "immaterial anatomical entity", + "Strabismus", "abnormal response to stimulus", - "Abnormality of eye movement", - "Abnormal eye physiology", - "abnormality of camera-type eye physiology", - "abnormal behavior process", - "abnormal size of multicellular organism", - "decreased height of the anatomical entity", - "decreased size of the multicellular organism", - "abnormality of anatomical entity height", - "delayed growth", - "Growth delay", + "response to stimulus", + "behavior process", + "abnormal eye movement", + "eye movement", + "behavior", + "delayed biological_process", + "Short stature", "Abnormality of body height", + "abnormal DNA damage response", + "delayed growth", + "abnormal size of multicellular organism", "decreased height of the multicellular organism", "abnormality of multicellular organism height", - "ear", - "Neoplasm by anatomical site", - "delayed biological_process", - "Irregular hyperpigmentation", - "Hypermelanotic macule", - "abnormal response to stress", - "Cafe-au-lait spot", - "Localized skin lesion", - "Strabismus", - "circulatory organ", - "thoracic segment organ", - "heart plus pericardium", - "Abnormality of cardiovascular system morphology", - "primary circulatory organ", - "vasculature", - "cardiovascular system", + "Neoplasm", + "Hematological neoplasm", + "Generalized abnormality of skin", "Internal hemorrhage", - "thoracic segment of trunk", - "vascular system", - "abnormality of cardiovascular system physiology", "Abnormality of the vasculature", - "Abnormal cardiovascular system physiology", - "abnormal cardiovascular system", - "circulatory system process", - "Complete duplication of phalanx of hand", - "Duplication of hand bones", - "manual digit digitopodial skeleton", - "skeleton of manual acropodium", - "Abnormal long bone morphology", + "blood circulation", + "Vascular skin abnormality", + "Abnormality of blood circulation", + "vasculature", + "abnormality of cardiovascular system physiology", + "Abnormal bleeding", + "Bruising susceptibility", + "Subcutaneous hemorrhage", + "vascular system", + "abnormal anatomical entity morphology in the skeleton of manus", "Abnormality of thumb phalanx", - "Abnormal finger phalanx morphology", - "sensory perception of sound", - "abnormal phalanx of manus morphology", + "manual digitopodium bone", + "Duplication of bones involving the upper extremities", "phalanx", - "digitopodium bone", - "U-shaped anatomical entity", - "manual digit 1 phalanx endochondral element", + "phalanx endochondral element", + "manual digit phalanx endochondral element", + "abnormal phalanx morphology", + "abnormal phalanx of manus morphology", "Duplication of phalanx of hand", - "individual digit of digitopodial skeleton", - "Duplication of thumb phalanx", - "biological regulation", - "abnormal primary metabolic process", - "Leukemia", + "acropodial skeleton", + "manual digit bone", + "digit 1 digitopodial skeleton", + "manual digit digitopodial skeleton", + "digitopodium bone", + "skeleton of manual acropodium", + "abnormal primary metabolic process", + "Abnormality of metabolism/homeostasis", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "vestibulo-auditory system", + "protein-DNA complex organization", + "Abnormality of DNA repair", + "abnormal organelle organization", + "regulation of biosynthetic process", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process", + "protein-containing complex organization", + "regulation of biological process", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", + "abnormal cellular component organization", + "Chromosome breakage", + "negative regulation of gene expression", + "abnormal metabolic process", + "cellular response to stimulus", "Chromosomal breakage induced by crosslinking agents", - "organic substance metabolic process", + "metabolic process", + "cellular process", + "abnormal DNA metabolic process", + "decreased height of the anatomical entity", "regulation of cellular process", - "regulation of metabolic process", - "Vascular skin abnormality", "negative regulation of biological process", - "Generalized abnormality of skin", "nucleobase-containing compound metabolic process", "organic cyclic compound metabolic process", + "Duplicated collecting system", + "macromolecule metabolic process", "obsolete heterocycle metabolic process", - "immaterial entity", "obsolete cellular aromatic compound metabolic process", "obsolete cellular nitrogen compound metabolic process", - "response to stress", "cellular component organization", - "regulation of biosynthetic process", - "regulation of cellular metabolic process", - "negative regulation of cellular process", - "organelle organization", - "regulation of gene expression", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", "negative regulation of macromolecule biosynthetic process", "negative regulation of cellular biosynthetic process", - "programmed DNA elimination", - "cellular metabolic process", - "negative regulation of gene expression", - "Chromosome breakage", - "regulation of cellular biosynthetic process", - "negative regulation of biosynthetic process", - "negative regulation of macromolecule metabolic process", - "negative regulation of cellular metabolic process", - "DNA metabolic process", - "decreased multicellular organism mass", - "growth", - "Hearing impairment", - "Decreased body weight", - "Small for gestational age", - "Decreased multicellular organism mass", - "visual system", - "manual digit 1 phalanx", "chromatin organization", + "abnormal chromatin organization", + "abnormal growth", + "Decreased multicellular organism mass", + "abnormality of multicellular organism mass", + "abnormal cell cycle", + "Duplication of thumb phalanx", + "abnormality of anatomical entity mass", + "decreased anatomical entity mass", + "abnormal size of eyeball of camera-type eye", + "abnormal face morphology", + "Abnormal eye morphology", + "abnormal orbital region", + "Abnormality of the face", + "simple eye", "sensory system", - "eye", - "face", - "orbital region", - "Aplasia/Hypoplasia affecting the eye", - "Microphthalmia", - "subdivision of head", - "entire sense organ system", + "Abnormality of the eye", + "abnormal face", + "sense organ", + "eyeball of camera-type eye", "camera-type eye", - "negative regulation of metabolic process", + "Microphthalmia", + "orbital region", + "Abnormality of the orbital region", + "abnormal eyeball of camera-type eye", "abnormal camera-type eye morphology", - "Abnormality of globe size", - "Abnormality of the eye", - "primary metabolic process", - "abnormal enucleated reticulocyte morphology", - "abnormal vasculature", - "Abnormal reticulocyte morphology", - "Complete duplication of thumb phalanx", - "abnormal number of anatomical enitites of type reticulocyte", - "anatomical line between pupils", + "decreased size of the eyeball of camera-type eye", + "visual system", "abnormally decreased number of reticulocyte", - "Short finger", - "decreased size of the anatomical entity in the pectoral complex", - "Neurodevelopmental delay", - "decreased size of the anatomical entity in the independent continuant", - "decreased length of manual digit", - "sensory perception", - "decreased length of anatomical entity", - "decreased length of manual digit 1", - "Short digit", - "autopod endochondral element", - "autopod bone", - "phalanx of manus", - "decreased length of anatomical entity in independent continuant", - "decreased length of digit", - "decreased size of the anatomical entity", - "aplastic forelimb zeugopod bone", - "absent forelimb zeugopod bone", - "sensory perception of mechanical stimulus", - "Aplasia involving forearm bones", - "abnormal limb long bone morphology", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "abnormal forelimb zeugopod bone", - "body part movement", - "absent radius bone in the forelimb", - "manual digit 1 digitopodial skeleton", - "abnormal forelimb zeugopod morphology", - "abnormal long bone morphology", - "Abnormal forearm bone morphology", - "behavior process", - "Aplasia/hypoplasia involving forearm bones", - "absent radius bone in the independent continuant", - "absent radius bone", - "zeugopod", - "macromolecule metabolic process", - "bone of pectoral complex", - "Atypical behavior", - "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "abnormal bone of pectoral complex morphology", - "Abnormal upper limb bone morphology", - "arm bone", - "forelimb long bone", - "radius bone", - "Aplasia involving bones of the extremities", - "long bone", - "Absent forearm bone", - "abnormal number of anatomical enitites of type sperm", - "abnormality of male reproductive system physiology", - "gamete", - "semen", - "developmental process", - "reproduction", - "Abnormal internal genitalia", - "Abnormal testis morphology", - "developmental process involved in reproduction", + "reticulocyte", "multicellular organismal reproductive process", - "abnormal reproductive process", - "decreased qualitatively developmental process", - "absent anatomical entity in the semen", - "gamete generation", - "abnormal male reproductive system morphology", - "spermatogenesis", - "absent sperm", - "zeugopodial skeleton", - "male gamete generation", - "abnormally localised testis", - "Global developmental delay", - "abnormal multicellular organismal reproductive process", - "absent gamete", - "manual digit bone", - "decreased spermatogenesis", - "abnormal male reproductive system", - "decreased qualitatively sensory perception of sound", - "absent sperm in the semen", - "obsolete multicellular organism reproduction", - "Azoospermia", - "Abnormality of the male genitalia", - "sperm", - "external genitalia", - "anatomical cluster", - "internal genitalia", - "abnormal reproductive system morphology", - "decreased qualitatively biological_process", - "Abnormal spermatogenesis", - "vestibulo-auditory system", - "forelimb endochondral element", - "absent germ cell", - "abnormal internal genitalia", - "external male genitalia", - "abnormal external male genitalia", + "Non-obstructive azoospermia", + "axial skeleton plus cranial skeleton", + "abnormality of anatomical entity physiology", + "abnormal hematopoietic system morphology", + "Abnormality of mental function", + "abnormal cardiovascular system morphology", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "Duplication of hand bones", + "abnormal nitrogen compound metabolic process", + "nervous system process", + "system process", + "abnormal limb morphology", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "organ", + "cellular response to stress", + "appendicular skeleton", + "upper limb segment", + "appendicular skeletal system", + "arm", + "endochondral bone", + "subdivision of skeleton", + "Abnormal cardiovascular system physiology", + "Aplasia/Hypoplasia of the radius", + "entity", + "negative regulation of cellular process", + "abnormal limb", + "manus", + "head", + "abnormal digit", + "thoracic segment of trunk", + "Abnormal appendicular skeleton morphology", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "system", + "aplasia or hypoplasia of manual digit 1", + "bone of appendage girdle complex", + "Abnormal finger phalanx morphology", + "pigmentation", + "genitourinary system", "decreased qualitatively reproductive process", - "decreased developmental process", - "abnormal developmental process", - "abnormality of internal male genitalia physiology", - "abnormal gamete generation", - "abnormal heart morphology", - "abnormal external genitalia", - "abnormal developmental process involved in reproduction", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "abnormal orbital region", - "bone marrow cell", - "obsolete nitrogen compound metabolic process", - "platelet", - "biogenic amine secreting cell", - "Short thumb", - "germ line cell", - "bone cell", - "sexual reproduction", - "anucleate cell", - "abnormal male reproductive organ morphology", - "bone marrow", - "secretory cell", - "manual digit phalanx endochondral element", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", - "abnormal bone marrow cell morphology", - "Abnormality of bone marrow cell morphology", - "decreased biological_process", - "serotonin secreting cell", - "forelimb bone", - "Abnormality of thrombocytes", - "abnormal platelet", - "Anemia", - "tissue", - "abnormal erythroid lineage cell morphology", - "nucleic acid metabolic process", - "Absent radius", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "absent kidney in the renal system", - "absent kidney", - "abnormal DNA metabolic process", - "abnormal chromatin organization", - "forelimb", - "abnormal anatomical entity morphology in the skeleton of manus", + "abnormal limb bone morphology", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal number of anatomical enitites of type granulocyte", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", "autopodial skeleton", - "abnormal blood circulation", - "Abnormal morphology of the radius", - "bone of free limb or fin", - "abnormal anatomical entity", - "motile cell", + "occurrent", + "abnormal male reproductive organ morphology", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "abnormal autopod region morphology", + "Absent thumb", + "paired limb/fin skeleton", + "Neurodevelopmental abnormality", + "subdivision of organism along appendicular axis", + "Abnormal male reproductive system physiology", + "digit plus metapodial segment", + "Cognitive impairment", + "abnormal male reproductive system", "paired limb/fin", - "abnormal anatomical entity morphology in the manus", - "pectoral appendage", - "abnormal anatomical entity morphology in the pectoral complex", - "central nervous system", - "absent anatomical entity", + "anatomical collection", + "All", + "increased qualitatively biological_process", + "Aplasia involving bones of the extremities", + "forelimb", + "Abnormal forebrain morphology", + "abnormal digit morphology", "abnormal manus", - "Finger aplasia", - "digitopodium region", "multi-limb segment region", - "trunk", + "endochondral element", + "bone element", + "Abnormality of the ear", + "abnormally decreased number of leukocyte", + "digit", + "Hyperpigmentation of the skin", + "manual digit plus metapodial segment", + "abnormal skeletal system", "digit 1 plus metapodial segment", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "male reproductive system", - "abnormal cell morphology", - "limb bone", - "abnormal arm", - "Abnormality of skull size", + "limb", + "Neoplasm by anatomical site", + "Decreased anatomical entity mass", + "Abnormality of the upper limb", + "cell", + "absent anatomical entity in the renal system", + "skeleton", + "male gamete generation", + "absent anatomical entity", + "regulation of metabolic process", + "Decreased body weight", + "autopodial extension", + "manual digit 1", + "abnormal immune system morphology", + "skeletal system", + "motile cell", + "Abnormality of limbs", + "Abnormality of limb bone morphology", "Abnormal digit morphology", + "multicellular organismal process", + "Aplasia/hypoplasia involving forearm bones", + "segment of manus", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal cellular metabolic process", + "musculoskeletal system", + "abnormal upper urinary tract", + "abnormally decreased number of myeloid cell", + "aplastic anatomical entity", + "face", "aplasia or hypoplasia of manual digit", - "absent anatomical entity in the skeletal system", - "Abnormal platelet count", - "abnormal forelimb morphology", - "autopodial extension", - "abnormal platelet morphology", - "Abnormality of reproductive system physiology", - "digit plus metapodial segment", - "erythrocyte", - "abnormal limb bone morphology", - "Aplasia/hypoplasia involving bones of the hand", - "G2 phase", - "manual digitopodium region", - "skeleton of digitopodium", - "skeleton of pectoral complex", - "abnormal appendicular skeleton morphology", - "Eumetazoa", - "segment of autopod", - "shape anatomical entity", - "Subcutaneous hemorrhage", - "regional part of nervous system", - "abnormal head", - "digit 1", - "Abnormal erythroid lineage cell morphology", - "male reproductive organ", - "reproductive structure", - "cell cycle", - "abnormal reproductive system", - "manual digit 1 or 5", - "Abnormal platelet morphology", - "abnormally decreased number of platelet", - "Aplasia involving bones of the upper limbs", - "system", - "subdivision of organism along main body axis", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the hand", - "Abnormal hand morphology", - "abnormal manual digit morphology in the independent continuant", - "aplasia or hypoplasia of skeleton", + "Aplasia/hypoplasia of the extremities", "forelimb skeleton", - "Intellectual disability", - "absent manual digit", - "digit 1 or 5", - "arm", - "Short stature", - "Abnormality of limb bone", - "abnormal size of eyeball of camera-type eye", - "abnormal face", - "aplastic anatomical entity", - "abnormal eye movement", - "subdivision of organism along appendicular axis", - "cellular response to stress", - "absent anatomical entity in the independent continuant", - "agenesis of anatomical entity", - "bone of appendage girdle complex", - "manual digit", - "Abnormality of limb bone morphology", - "glandular system", - "skull", "endocrine system", - "abnormal endocrine system", - "Abnormality of the cell cycle", - "Abnormal appendicular skeleton morphology", - "renal system", + "abnormally decreased functionality of the anatomical entity", + "agenesis of anatomical entity", + "abnormal anatomical entity morphology in the manus", + "cardiovascular system", + "acropodium region", + "Intellectual disability", + "bone marrow", + "skeleton of manus", + "skeleton of limb", + "Abnormality of skin pigmentation", + "Aplasia involving forearm bones", + "anatomical system", + "material anatomical entity", "Hypergonadotropic hypogonadism", - "reproductive organ", - "shape kidney", - "Abnormal forearm morphology", - "abnormally decreased number of anatomical entity", - "Hypogonadism", - "endochondral bone", - "abnormal limb bone", - "abnormally decreased functionality of the gonad", - "regional part of brain", - "abnormality of reproductive system physiology", - "digit 1 digitopodial skeleton", - "gonad", - "heart", - "upper limb segment", - "Abnormality of the genital system", - "decreased anatomical entity mass", - "increased pigmentation", - "anatomical entity dysfunction in independent continuant", - "increased pigmentation in skin of body", - "manual digit 1", - "cellular process", - "Abnormality of metabolism/homeostasis", - "Bruising susceptibility", - "cellular component organization or biogenesis", - "Abnormality of the face", - "Phenotypic abnormality", - "abnormal digit morphology", - "Abnormality of the genitourinary system", - "cell cycle phase", - "decreased size of the eyeball of camera-type eye", - "appendage girdle complex", + "abnormal enucleated reticulocyte morphology", + "nucleate cell", + "decreased qualitatively sensory perception of sound", "abnormal anatomical entity topology in independent continuant", - "limb segment", + "sexual reproduction", + "organ system subdivision", + "abnormal blood cell", + "erythrocyte", "Macule", - "Abnormality of the cardiovascular system", - "skin of body", - "abnormal biological_process", - "multi-tissue structure", - "Abnormal cellular physiology", - "Aplasia/hypoplasia of the extremities", - "biological phase", - "obsolete cell", - "interphase", - "Prolonged G2 phase of cell cycle", - "upper urinary tract", - "skeletal system", - "abnormally decreased functionality of the anatomical entity", - "abnormal ear", - "abdominal segment element", - "abnormal cell cycle", - "Abnormality of the upper limb", - "absent anatomical entity in the limb", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "DNA repair", - "Abnormality of the skeletal system", - "digit", - "abdominal segment of trunk", - "abnormal renal collecting system", - "Abnormal cellular immune system morphology", - "Duplicated collecting system", - "viscus", - "integumental system", - "reproductive process", - "abnormal pigmentation", - "Hyperpigmentation of the skin", - "increased qualitatively biological_process in independent continuant", - "reticulocyte", - "abnormal central nervous system morphology", - "increased biological_process", - "abnormal metabolic process", - "changed biological_process rate", - "abnormal integument", - "abnormal growth", - "increased biological_process in skin of body", - "abnormal eyeball of camera-type eye", - "abnormal pigmentation in independent continuant", - "abnormal biological_process in independent continuant", - "abnormal skin of body morphology", - "abnormal sensory perception of sound", - "abnormal testis morphology", - "reproductive system", - "absent anatomical entity in the forelimb", - "abnormal skin of body", - "testis", - "craniocervical region", - "abnormal cellular process", - "abnormal programmed DNA elimination by chromosome breakage", - "Abnormal leukocyte morphology", - "Abnormality of brain morphology", - "abnormally decreased number of leukocyte", - "skeletal element", - "Abnormality of mental function", - "Abnormality of the head", - "Abnormal reproductive system morphology", - "Pancytopenia", - "Morphological central nervous system abnormality", - "manus bone", - "Absent thumb", - "skeleton", - "abnormal anatomical entity morphology in the brain", - "Abnormality of body weight", - "abnormal telencephalon morphology", - "Abnormal conjugate eye movement", - "organ system subdivision", - "process", - "aplasia or hypoplasia of radius bone", + "renal system", + "abnormal kidney morphology", "main body axis", - "cellular organisms", - "organism", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "absent kidney in the independent continuant", - "manual digit plus metapodial segment", - "phalanx endochondral element", - "limb skeleton subdivision", - "Microcephaly", - "immune system", - "abnormal craniocervical region", - "postcranial axial skeletal system", - "paired limb/fin skeleton", + "decreased spermatogenesis", + "quality", + "abnormal manus morphology", + "abnormally decreased number of hematopoietic cell", + "phenotype by ontology source", + "excretory system", + "bone marrow cell", + "circulatory system", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "abnormal myeloid cell morphology", + "increased biological_process", + "Abnormality of the nervous system", + "abnormality of internal male genitalia physiology", + "absent digit", + "phenotype", + "Abnormal cell morphology", + "abnormal arm", + "Atypical behavior", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormal renal system", + "Abnormality of the upper urinary tract", + "hemolymphoid system", + "Aplasia/hypoplasia involving the skeleton", + "abdomen element", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "DNA damage response", + "lateral structure", + "abnormal vasculature", + "abnormal genitourinary system", + "changed developmental process rate", "Abnormal cerebral morphology", - "Non-obstructive azoospermia", + "abnormal blood circulation", + "arm bone", + "Short thumb", + "enucleated reticulocyte", + "Abnormality of the kidney", + "abnormal anatomical entity", + "Small for gestational age", + "Abnormal forearm morphology", + "abnormal immune system", + "abnormality of anatomical entity height", + "subdivision of organism along main body axis", + "abnormal leukocyte morphology", + "anatomical line between pupils", + "independent continuant", + "abnormal renal system morphology", + "abnormal forelimb morphology", + "abnormal location of anatomical entity", + "absent kidney in the renal system", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "reproduction", + "trunk region element", + "cell cycle", + "pectoral complex", + "Anemic pallor", "absent anatomical entity in the multicellular organism", - "anterior region of body", - "Abnormality of the integument", - "paired limb/fin segment", - "abnormally decreased number of neutrophil", - "granulocyte", - "abnormally decreased number of hematopoietic cell", - "Eukaryota", - "forebrain", - "Abnormality of multiple cell lineages in the bone marrow", - "anatomical collection", - "abnormal skull morphology", - "musculoskeletal system", - "abnormally localised anatomical entity in independent continuant", - "appendicular skeleton", - "Abnormal axial skeleton morphology", - "abnormal autopod region morphology", - "behavior", - "blood cell", - "erythroid lineage cell", - "abnormal size of anatomical entity", - "abnormal number of anatomical enitites of type platelet", "hematopoietic system", - "abnormal forebrain morphology", - "haploid cell", - "Abnormal renal morphology", - "Abnormality of limbs", + "thoracic cavity element", + "Abnormal cellular immune system morphology", + "Abnormal nervous system physiology", + "Abnormality of the immune system", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "skeletal element", + "zeugopod", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "external genitalia", + "renal collecting system", + "Ectopic kidney", + "subdivision of head", + "appendage girdle complex", + "Renal hypoplasia/aplasia", + "abnormality of ear physiology", + "absent anatomical entity in the forelimb", "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "root", - "Abnormal neutrophil count", - "abnormal organelle organization", - "abnormal head morphology", - "head", - "abnormally decreased number of granulocyte", - "abnormal sensory perception", - "Neurodevelopmental abnormality", - "Abnormal skull morphology", - "Neoplasm", - "abnormal bone marrow cell", - "system process", - "Abnormal granulocyte morphology", + "cellular metabolic process", + "Abnormality of neutrophils", + "leukocyte", + "abnormal gamete generation", + "decreased multicellular organism mass", + "Aplasia/Hypoplasia involving the central nervous system", + "continuant", + "abnormal neutrophil", + "ectoderm-derived structure", + "structure with developmental contribution from neural crest", + "phalanx of manus", + "negative regulation of biosynthetic process", + "material entity", + "long bone", + "regional part of nervous system", + "Abnormal conjugate eye movement", + "forelimb bone", + "non-connected functional system", + "abdominal segment element", + "abnormal reproductive system morphology", + "abnormal hematopoietic system", + "Renal agenesis", "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", + "gamete generation", + "Aplasia/Hypoplasia of the thumb", + "bone cell", "biological_process", - "subdivision of skeleton", - "circulatory system", - "sense organ", - "subdivision of skeletal system", - "male gamete", - "ectoderm-derived structure", - "telencephalon", - "manual digit 1 plus metapodial segment", - "Duplication of bones involving the upper extremities", - "abnormal postcranial axial skeleton morphology", - "eyeball of camera-type eye", - "changed biological_process rate in independent continuant", - "Thrombocytopenia", - "abnormal craniocervical region morphology", - "All", - "organism substance", - "Aplasia/Hypoplasia involving the central nervous system", - "protein-DNA complex organization", - "organ", - "programmed DNA elimination by chromosome breakage", - "abnormal bone marrow morphology", + "myeloid leukocyte", + "entire sense organ system", + "absent radius bone in the independent continuant", + "Abnormal localization of kidney", + "biological regulation", + "Global developmental delay", + "abdominal segment of trunk", + "abnormal central nervous system morphology", + "abnormal renal collecting system", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal phenotype by ontology source", + "Abnormal thumb morphology", + "subdivision of trunk", + "absent manual digit", + "manual digit 1 digitopodial skeleton", + "regulation of gene expression", + "pectoral appendage", + "body proper", + "cognition", + "appendage", + "root", + "abnormally localised anatomical entity in independent continuant", + "abnormality of nervous system physiology", "organism subdivision", - "abnormal gamete", - "Abnormal nervous system physiology", - "thoracic cavity element", - "Abnormality of the kidney", - "cavitated compound organ", - "Abnormality of the musculoskeletal system", - "abnormal size of skull", - "abnormal limb", - "trunk region element", - "pectoral complex", - "abnormal hematopoietic system", - "Anemic pallor", - "absent anatomical entity in the renal system", - "abdomen", - "acropodial skeleton", - "abnormal kidney", - "nervous system process", - "body proper", - "forelimb zeugopod", + "abnormally decreased number of myeloid cell in the independent continuant", + "cranial skeletal system", + "Abnormal eye physiology", + "segment of autopod", + "reproductive system", + "aplastic manual digit 1", + "skeleton of pectoral complex", + "abnormally localised anatomical entity", + "hematopoietic cell", + "abnormally decreased number of granulocyte", + "abnormal hematopoietic cell morphology", + "viscus", + "Abnormal granulocyte morphology", + "Abnormal cellular phenotype", + "abnormal limb bone", "Abnormal nervous system morphology", - "genitourinary system", - "abnormality of anatomical entity mass", - "abnormal cell", - "bone element", + "Complete duplication of phalanx of hand", + "limb bone", + "granulocyte", + "abnormal number of anatomical enitites of type anatomical entity", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "paired limb/fin segment", + "abnormality of camera-type eye physiology", + "immune system", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal manual digit 1 morphology", + "Absent forearm bone", + "Leukemia", + "abnormal cell morphology", "abnormal nervous system morphology", - "abnormal cardiovascular system morphology", - "Abnormal eye morphology", - "Abnormality of head or neck", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/hypoplasia involving bones of the extremities", - "skeleton of manual digitopodium", - "axial skeletal system", - "abnormality of nervous system physiology", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal genitourinary system", - "Abnormality of the upper urinary tract", - "enucleated reticulocyte", - "forelimb zeugopod bone", - "quality", - "aplasia or hypoplasia of anatomical entity", - "regulation of biological process", - "Abnormal thumb morphology", - "oxygen accumulating cell", - "Abnormal localization of kidney", - "subdivision of trunk", - "abdomen element", - "autopod region", - "compound organ", - "Abnormal renal collecting system morphology", - "male germ cell", - "limb", - "lateral structure", - "Cryptorchidism", - "non-connected functional system", - "abnormal leukocyte morphology", - "abnormally localised anatomical entity", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "phenotype", - "abnormal renal system", - "postcranial axial skeleton", - "abnormally localised kidney", - "absent digit", - "Abnormality of blood and blood-forming tissues", - "anatomical structure", - "Abnormality of the urinary system", - "Decreased anatomical entity mass", - "Abnormality of skin morphology", - "multicellular organismal process", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "blood cell", + "Abnormality of the genitourinary system", + "forebrain", + "Abnormality of the cardiovascular system", "Abnormal myeloid cell morphology", - "increased pigmentation in independent continuant", - "manual digitopodium bone", - "abnormal skeletal system morphology", - "absent sperm in the independent continuant", + "U-shaped kidney", + "digit 1 or 5", + "skeleton of manual digitopodium", + "primary circulatory organ", + "neutrophil", + "Complete duplication of thumb phalanx", + "manual digit 1 phalanx", + "abnormal forelimb zeugopod bone", + "Abnormal myeloid leukocyte morphology", + "Pancytopenia", + "abnormal head", + "organism", + "programmed DNA elimination", + "obsolete cell", "internal male genitalia", - "occurrent", - "Metazoa", - "Cognitive impairment", - "abnormal nervous system", - "abnormal cellular component organization", - "appendicular skeletal system", - "Abnormality of the nervous system", - "abnormal cellular metabolic process", - "acropodium region", - "pectoral appendage skeleton", - "nucleate cell", - "Abnormality of the orbital region", - "Abnormal cellular phenotype", - "entity", - "abnormal number of anatomical enitites of type hematopoietic cell", - "pigmentation", - "myeloid leukocyte", - "germ cell", - "abnormal spermatogenesis", - "segment of manus", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal neutrophil", - "abnormal blood cell", + "Abnormal granulocyte count", + "eye", + "compound organ", + "zeugopodial skeleton", + "limb long bone", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "abnormal anatomical entity morphology in the pectoral complex", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "abnormal developmental process involved in reproduction", "Functional abnormality of male internal genitalia", - "increased biological_process in independent continuant", - "abnormally decreased number of cell in the independent continuant", + "circulatory system process", + "cavitated compound organ", + "Abnormal leukocyte count", + "manual digit 1 plus metapodial segment", + "abdomen", + "limb endochondral element", "abnormally decreased number of cell", - "cranial skeletal system", - "Hematological neoplasm", - "Aplasia/Hypoplasia of fingers", - "radius endochondral element", - "abnormal immune system morphology", - "leukocyte", - "mesoderm-derived structure", - "abnormal upper urinary tract", - "specifically dependent continuant", - "increased qualitatively biological_process", - "abnormal anatomical entity length", - "abnormal number of anatomical enitites of type cell", - "abnormal digit", - "abnormal number of anatomical enitites of type neutrophil", - "abnormality of anatomical entity physiology", - "Puberty and gonadal disorders", - "Abnormal immune system morphology", - "abnormal nitrogen compound metabolic process", - "abnormal immune system", - "abnormally decreased number of myeloid cell", - "Abnormality of blood circulation", - "excretory system", - "skeleton of limb", - "nervous system", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "protein-containing complex organization", - "abnormal granulocyte morphology", - "Decreased head circumference", - "hematopoietic cell", - "regulation of macromolecule metabolic process", - "continuant", - "aplastic manual digit 1", - "abnormal number of anatomical enitites of type leukocyte", "abnormal myeloid leukocyte morphology", - "abnormal manual digit morphology in the manus", - "Ectopic kidney", - "hemolymphoid system", - "Abnormal heart morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Renal hypoplasia/aplasia", - "abnormal manus morphology", - "cell", - "phenotype by ontology source", - "integument", - "metabolic process", - "abnormal phalanx morphology", - "myeloid cell", - "Neutropenia", - "abnormal skeletal system", - "disconnected anatomical group", - "abnormal number of anatomical enitites of type granulocyte", - "changed developmental process rate", - "neutrophil", - "abnormal cellular response to stress", - "independent continuant", - "abnormal hematopoietic system morphology", - "Aplasia/hypoplasia involving the skeleton", - "Abnormal granulocyte count", - "abnormal hematopoietic cell morphology", - "abnormal limb morphology", + "increased qualitatively biological_process in independent continuant", + "abnormal anatomical entity morphology in the independent continuant", "brain", - "Abnormal external genitalia", - "Abnormal leukocyte count", - "Pallor", - "Renal agenesis", - "Growth abnormality", - "abnormal renal system morphology", - "abnormal brain morphology", - "aplasia or hypoplasia of telencephalon", - "abnormal anatomical entity morphology", - "Abnormality of the immune system", - "Abnormality of the skin", - "3-D shape anatomical entity in independent continuant", - "anatomical system", - "Abnormality of the endocrine system", - "abnormal kidney morphology", - "immaterial anatomical entity", - "Abnormal bleeding", - "blood circulation", - "endochondral element", - "Abnormality of neutrophils", - "structure with developmental contribution from neural crest", - "renal collecting system", - "Abnormality of skin pigmentation", + "abnormal nervous system", + "biological phase", + "autopod bone", + "mesoderm-derived structure", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "gonad", + "multi-tissue structure", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", "abnormally decreased number of granulocyte in the independent continuant", - "simple eye", - "abnormally decreased number of anatomical entity in the independent continuant", - "axial skeleton plus cranial skeleton", - "Abnormal skeletal morphology", - "limb endochondral element", - "anatomical entity", - "abnormality of multicellular organism mass", - "eukaryotic cell", - "appendage", - "U-shaped kidney", - "material anatomical entity", - "abnormal blood cell morphology", - "material entity", - "limb long bone", - "abnormally decreased number of myeloid cell in the independent continuant", + "Abnormal skull morphology", + "abnormal craniocervical region morphology", + "immaterial entity", + "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", + "Abnormality of body weight", + "aplasia or hypoplasia of telencephalon", + "limb skeleton subdivision", + "skull", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "absent sperm in the semen", + "bone of pectoral complex", + "decreased length of anatomical entity", + "autopod endochondral element", + "Abnormality of limb bone", + "central nervous system", + "regional part of brain", + "craniocervical region", + "Abnormality of head or neck", + "abnormal kidney", + "abnormal reproductive system", + "abnormal head morphology", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "spermatogenesis", + "abnormal telencephalon morphology", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "manual digit 1 phalanx endochondral element", + "tissue", + "absent anatomical entity in the semen", + "Abnormality of brain morphology", + "nervous system", + "forelimb zeugopod bone", "kinesthetic behavior", - "abnormal number of anatomical enitites of type myeloid cell", - "multicellular organism", + "Eumetazoa", + "negative regulation of cellular metabolic process", + "Eukaryota", + "decreased length of manual digit", + "abnormal forebrain morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "telencephalon", + "Growth abnormality", + "axial skeletal system", + "abnormal skull morphology", + "reproductive organ", + "abnormal number of anatomical enitites of type reticulocyte", + "decreased developmental process", + "postcranial axial skeleton", + "Abnormal renal collecting system morphology", + "decreased qualitatively developmental process", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "changed biological_process rate in independent continuant", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "Decreased head circumference", + "abnormal size of anatomical entity", + "Abnormality of thrombocytes", + "Abnormal renal morphology", + "abnormal external genitalia", + "Abnormal axial skeleton morphology", + "non-material anatomical boundary", + "erythroid lineage cell", + "Abnormal reproductive system morphology", + "abnormal cardiovascular system", + "thoracic segment organ", + "Abnormal finger morphology", + "Abnormal erythrocyte morphology", + "circulatory organ", + "heart plus pericardium", + "Cryptorchidism", + "Abnormality of cardiovascular system morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "abnormal heart morphology", + "abnormal integument", + "Cafe-au-lait spot", + "abnormally decreased number of anatomical entity in the independent continuant", + "abnormal anatomical entity morphology", + "increased pigmentation", + "Neutropenia", + "reproductive structure", + "changed biological_process rate", + "increased biological_process in skin of body", + "absent germ cell", + "decreased size of the anatomical entity", + "abnormal biological_process in independent continuant", + "Neurodevelopmental delay", + "abnormal skin of body", + "Abnormality of the integument", + "Abnormality of bone marrow cell morphology", + "Growth delay", "kidney", + "abnormal biological_process", + "Abnormality of skin morphology", + "integumental system", + "integument", + "absent radius bone in the forelimb", + "increased biological_process in independent continuant", + "abnormal skin of body morphology", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "primary metabolic process", + "forelimb endochondral element", + "Abnormality of the skin", + "germ line cell", + "abnormal pigmentation in independent continuant", + "Abnormal forearm bone morphology", + "increased pigmentation in independent continuant", + "organic substance metabolic process", + "Abnormality of the head", + "heart", + "abnormal pigmentation", + "Abnormal heart morphology", + "abnormality of reproductive system physiology", + "limb segment", + "absent sperm", + "Abnormality of the genital system", + "Abnormality of reproductive system physiology", + "gamete", + "Abnormality of the endocrine system", + "abnormal endocrine system", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "Puberty and gonadal disorders", + "glandular system", + "male gamete", + "abnormally decreased functionality of the gonad", + "absent kidney", + "subdivision of skeletal system", + "abnormally decreased number of neutrophil", + "absent kidney in the independent continuant", + "oxygen accumulating cell", + "abnormal erythrocyte morphology", + "manus bone", + "radius bone", + "Abnormality of the hand", + "Anemia", + "abnormal shape of continuant", + "trunk", + "abnormal bone marrow cell", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "abnormal cellular process", + "secretory cell", + "decreased size of the anatomical entity in the independent continuant", + "anucleate cell", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "Prolonged G2 phase of cell cycle", + "pectoral appendage skeleton", + "abnormal blood cell morphology", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "abnormal brain morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal programmed DNA elimination by chromosome breakage", + "specifically dependent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + "cellular organisms", + "Abnormal neutrophil count", + "obsolete multicellular organism reproduction", + "digit 1", + "abnormal platelet morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "Abnormality of globe size", + "abnormally decreased number of platelet", + "Abnormal platelet count", + "sensory perception", + "abnormal developmental process", + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "organelle organization", + "postcranial axial skeletal system", + "abnormal spermatogenesis", + "germ cell", + "abnormal internal genitalia", + "abnormal cell", + "disconnected anatomical group", + "male reproductive organ", + "internal genitalia", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "abnormal external male genitalia", + "haploid cell", + "abnormal gamete", "Reticulocytopenia", - "Opisthokonta", - "Abnormal myeloid leukocyte morphology", - "abnormal phenotype by ontology source", - "abnormal location of anatomical entity", - "abnormal myeloid cell morphology", - "cognition", - "manus", + "abnormal testis morphology", + "forelimb zeugopod", + "interphase", + "semen", + "organism substance", + "Abnormal external genitalia", + "platelet", + "absent sperm in the independent continuant", + "male germ cell", + "abnormal granulocyte morphology", + "Azoospermia", + "male reproductive system", + "abnormal number of anatomical enitites of type sperm", + "manual digit", + "abnormal multicellular organismal reproductive process", + "anatomical entity", + "decreased qualitatively biological_process", + "testis", + "external male genitalia", + "regulation of macromolecule metabolic process", + "abnormal reproductive process", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", "male organism", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal forebrain morphology", - "Abnormal cell morphology", - "abnormally decreased number of leukocyte in the independent continuant", - ], - "has_phenotype_count": 32, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0001083", - "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome", - "full_name": None, - "deprecated": None, - "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.", - "xref": [ - "DOID:1062", - "GARD:9120", - "MESH:D005198", - "NANDO:2100027", - "NANDO:2200187", - "NCIT:C3034", - "SCTID:40488004", - "UMLS:C0015624", - ], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, + "sperm", + "absent gamete", + "developmental process involved in reproduction", + "Abnormality of male external genitalia", + "abnormal male reproductive system morphology", + "Abnormal testis morphology", + "absent anatomical entity in the independent continuant", + "abnormally localised testis", + "reproductive process", + "shape kidney", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "developmental process", + "abnormal manual digit morphology in the manus", + "Abnormal internal genitalia", + "forelimb zeugopod skeleton", + "Aplasia involving bones of the upper limbs", + "eukaryotic cell", + "abnormal limb long bone morphology", + "absent forelimb zeugopod bone", + "Pallor", + "abnormal bone of pectoral complex morphology", + "absent radius bone", + "abnormal behavior", + "radius endochondral element", + "abnormal radius bone morphology", + "Absent radius", + "aplastic forelimb zeugopod bone", + "abnormal size of skull", + "forelimb long bone", + "sensory perception of mechanical stimulus", + "abnormally decreased number of anatomical entity", + "skin of body", + "Abnormal upper limb bone morphology", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "3-D shape anatomical entity in independent continuant", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "Abnormal reticulocyte morphology", + "decreased length of anatomical entity in independent continuant", + "manual digitopodium region", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "decreased length of digit", + "Short finger", + "skeleton of digitopodium", + "Short digit", + "anterior region of body", + "decreased length of manual digit 1", + ], + "has_phenotype_count": 32, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0001083", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome", + "full_name": None, + "deprecated": None, + "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.", + "xref": [ + "DOID:1062", + "GARD:9120", + "MESH:D005198", + "NANDO:2100027", + "NANDO:2200187", + "NCIT:C3034", + "SCTID:40488004", + "UMLS:C0015624", + ], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, "symbol": None, "synonym": [ "De toni-Fanconi syndrome", @@ -5334,40 +5334,46 @@ def autocomplete(): "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0002863", + "HP:0010469", + "HP:0000377", "HP:0002575", "HP:0000483", + "HP:0000238", "HP:0001249", "HP:0100587", + "HP:0100026", "HP:0040071", + "HP:0012639", + "HP:0008053", "HP:0006824", "HP:0005344", "HP:0002414", - "HP:0001199", + "HP:0002245", + "HP:0002023", + "HP:0001824", + "HP:0001646", + "HP:0000582", "HP:0000518", "HP:0000508", - "HP:0000010", + "HP:0000453", + "HP:0000047", + "HP:0007874", + "HP:0002650", "HP:0000252", - "HP:0001000", - "HP:0010469", - "HP:0000377", + "HP:0001882", + "HP:0002863", "HP:0002119", + "HP:0001510", "HP:0001392", "HP:0000864", "HP:0000316", - "HP:0000238", "HP:0000027", - "HP:0001562", - "HP:0001510", "HP:0100867", "HP:0100760", "HP:0100542", - "HP:0100026", - "HP:0012639", "HP:0012041", "HP:0010293", "HP:0008678", - "HP:0008053", "HP:0007565", "HP:0006265", "HP:0006101", @@ -5377,25 +5383,22 @@ def autocomplete(): "HP:0002827", "HP:0002823", "HP:0002251", - "HP:0002245", - "HP:0002023", "HP:0002007", - "HP:0001824", "HP:0001770", "HP:0001763", "HP:0001760", "HP:0001679", - "HP:0001646", "HP:0001643", "HP:0001639", "HP:0001636", "HP:0001631", + "HP:0001562", "HP:0001537", "HP:0001511", "HP:0001347", + "HP:0001199", "HP:0000813", "HP:0000639", - "HP:0000582", "HP:0000568", "HP:0000520", "HP:0000505", @@ -5403,7 +5406,6 @@ def autocomplete(): "HP:0000492", "HP:0000486", "HP:0000478", - "HP:0000453", "HP:0000365", "HP:0000364", "HP:0000347", @@ -5417,14 +5419,12 @@ def autocomplete(): "HP:0000130", "HP:0000083", "HP:0000072", - "HP:0000047", "HP:0000035", "HP:0000028", + "HP:0000010", "HP:0012745", "HP:0012210", - "HP:0007874", "HP:0002664", - "HP:0002650", "HP:0001671", "HP:0001263", "HP:0000079", @@ -5435,47 +5435,53 @@ def autocomplete(): "HP:0003220", "HP:0002817", "HP:0001903", - "HP:0001882", "HP:0001873", "HP:0001871", "HP:0001172", "HP:0001053", + "HP:0001000", ], "has_phenotype_label": [ - "Myelodysplasia", + "Absent testis", + "Abnormal pinna morphology", "Tracheoesophageal fistula", "Astigmatism", + "Hydrocephalus", "Intellectual disability", "Abnormal preputium morphology", + "Arteriovenous malformation", "Abnormal morphology of ulna", + "Abnormal nervous system morphology", + "Aplasia/Hypoplasia of the iris", "Cranial nerve paralysis", "Abnormal carotid artery morphology", "Spina bifida", - "Triphalangeal thumb", + "Meckel diverticulum", + "Anal atresia", + "Weight loss", + "Abnormal aortic valve morphology", + "Upslanted palpebral fissure", "Cataract", "Ptosis", - "Recurrent urinary tract infections", + "Choanal atresia", + "Hypospadias", + "Almond-shaped palpebral fissure", + "Scoliosis", "Microcephaly", - "Abnormality of skin pigmentation", - "Absent testis", - "Abnormal pinna morphology", + "Leukopenia", + "Myelodysplasia", "Ventriculomegaly", + "Growth delay", "Abnormality of the liver", "Abnormality of the hypothalamus-pituitary axis", "Hypertelorism", - "Hydrocephalus", "Azoospermia", - "Oligohydramnios", - "Growth delay", "Duodenal stenosis", "Clubbing of toes", "Abnormal localization of kidney", - "Arteriovenous malformation", - "Abnormal nervous system morphology", "Decreased fertility in males", "Aplasia/Hypoplasia of the uvula", "Renal hypoplasia/aplasia", - "Aplasia/Hypoplasia of the iris", "Multiple cafe-au-lait spots", "Aplasia/Hypoplasia of fingers", "Finger syndactyly", @@ -5485,25 +5491,22 @@ def autocomplete(): "Hip dislocation", "Abnormality of femur morphology", "Aganglionic megacolon", - "Meckel diverticulum", - "Anal atresia", "Frontal bossing", - "Weight loss", "Toe syndactyly", "Pes planus", "Abnormal foot morphology", "Abnormal aortic morphology", - "Abnormal aortic valve morphology", "Patent ductus arteriosus", "Hypertrophic cardiomyopathy", "Tetralogy of Fallot", "Atrial septal defect", + "Oligohydramnios", "Umbilical hernia", "Intrauterine growth retardation", "Hyperreflexia", + "Triphalangeal thumb", "Bicornuate uterus", "Nystagmus", - "Upslanted palpebral fissure", "Microphthalmia", "Proptosis", "Visual impairment", @@ -5511,7 +5514,6 @@ def autocomplete(): "Abnormal eyelid morphology", "Strabismus", "Abnormality of the eye", - "Choanal atresia", "Hearing impairment", "Hearing abnormality", "Micrognathia", @@ -5525,14 +5527,12 @@ def autocomplete(): "Abnormality of the uterus", "Renal insufficiency", "Hydroureter", - "Hypospadias", "Abnormal testis morphology", "Cryptorchidism", + "Recurrent urinary tract infections", "Short palpebral fissure", "Abnormal renal morphology", - "Almond-shaped palpebral fissure", "Neoplasm", - "Scoliosis", "Abnormal cardiac septum morphology", "Global developmental delay", "Abnormality of the urinary system", @@ -5543,5807 +5543,5807 @@ def autocomplete(): "Abnormality of chromosome stability", "Abnormality of the upper limb", "Anemia", - "Leukopenia", "Thrombocytopenia", "Abnormality of blood and blood-forming tissues", "Abnormal thumb morphology", "Hypopigmented skin patches", + "Abnormality of skin pigmentation", ], "has_phenotype_closure": [ - "UPHENO:0077872", - "UPHENO:0077874", - "HP:0001053", "HP:0001010", "UPHENO:0085070", - "CL:0000225", - "UPHENO:0084987", + "CL:0000458", + "HP:0001873", + "UPHENO:0085344", "UPHENO:0085189", - "HP:0001872", - "UPHENO:0086005", - "HP:0011873", + "UPHENO:0084987", + "UPHENO:0086049", + "HP:0011875", "CL:0000233", - "UPHENO:0088337", - "UBERON:0000178", - "CL:0002242", - "UPHENO:0088338", - "HP:0032251", - "UPHENO:0063722", - "UPHENO:0035147", - "GO:0005623", - "GO:0034101", - "GO:0048468", - "UPHENO:0085118", + "CL:0000457", + "UPHENO:0086173", + "HP:0001939", + "HP:0003220", + "GO:0008152", + "HP:0000002", + "UPHENO:0080351", + "UPHENO:0075159", + "GO:0030218", "HP:0010972", + "GO:0030099", + "UPHENO:0077892", + "GO:0030097", + "HP:0001877", "HP:0025461", - "GO:0048869", + "UPHENO:0084928", + "CL:0000329", + "UPHENO:0088162", "GO:0048871", - "HP:0012130", - "GO:0030099", + "CL:0000764", + "GO:0048872", + "UPHENO:0088170", + "GO:0048869", + "GO:0002376", + "GO:0009987", + "GO:0042592", + "HP:0005522", "HP:0020047", - "HP:0002818", - "CL:0000738", - "UBERON:0001423", + "CL:0000232", + "UBERON:0015001", "UPHENO:0080187", - "HP:0001263", - "HP:0010674", - "HP:0002650", - "UPHENO:0046753", + "HP:0002818", "UPHENO:0075198", - "UPHENO:0081755", - "UPHENO:0053580", - "HP:0100627", - "HP:0010936", - "UBERON:0035651", + "HP:0012745", + "HP:0000010", + "UPHENO:0002263", + "UPHENO:0053644", + "HP:0000028", + "UPHENO:0002806", + "UBERON:0000056", + "UBERON:0006555", "UBERON:0036295", - "UPHENO:0076780", - "HP:0000072", - "HP:0007874", - "HP:0000069", + "HP:0025633", + "UPHENO:0002442", "UPHENO:0086132", - "UPHENO:0086128", - "CL:0000255", "HP:0000083", + "UPHENO:0002411", + "HP:0012211", "HP:0000135", - "HP:0000175", - "UPHENO:0033635", + "HP:5201015", + "UPHENO:0081423", + "UPHENO:0034110", "UPHENO:0063513", "HP:0000268", - "UPHENO:0075148", - "UPHENO:0088170", - "UBERON:0012180", + "UPHENO:0001208", "UBERON:0013766", + "UPHENO:0072402", + "UBERON:0001084", "UBERON:1000021", - "HP:0000286", - "UPHENO:0085344", - "UPHENO:0075159", + "UPHENO:0087928", + "UPHENO:0087058", + "HP:0000324", "UPHENO:0084734", - "UPHENO:0020809", - "UPHENO:0041151", + "HP:0001999", + "HP:0001263", + "UPHENO:0005982", + "UPHENO:0041084", + "UPHENO:0041083", "UPHENO:0076704", - "UPHENO:0081314", - "UBERON:0001710", - "UPHENO:0081786", - "HP:0001882", "UBERON:0004768", - "UPHENO:0084457", - "UPHENO:0083646", + "UPHENO:0069249", + "UPHENO:0081786", + "HP:0009116", "UBERON:0001708", "UBERON:0011156", + "UBERON:0003278", + "UBERON:0001684", + "UPHENO:0084457", + "HP:0000286", + "HP:0009118", + "UPHENO:0088116", + "UBERON:0001710", + "UPHENO:0083646", + "UPHENO:0081314", + "HP:0004322", "HP:0030791", + "CL:0000081", + "UBERON:0012360", + "HP:0011873", + "UPHENO:0081788", + "UPHENO:0081141", + "HP:0000347", "UPHENO:0080087", - "UPHENO:0088116", - "UPHENO:0035025", - "HP:0000364", - "UPHENO:0052970", + "HP:0009122", + "HP:0000277", "GO:0050954", - "UPHENO:0052231", - "HP:0000453", - "UPHENO:0087894", - "UBERON:0004771", - "UBERON:0005725", - "UBERON:0000004", - "UPHENO:0087950", - "UPHENO:0003048", - "UBERON:0002268", - "HP:0001999", - "UPHENO:0021517", - "UPHENO:0063595", + "HP:0000365", + "UPHENO:0005518", + "UPHENO:0052970", "HP:0000486", - "GO:0007601", - "UPHENO:0063527", + "HP:0000549", + "GO:0050953", "UPHENO:0050236", + "GO:0034101", + "UPHENO:0050622", "UPHENO:0052164", - "GO:0050953", - "GO:0007600", - "HP:0000520", "UPHENO:0085881", + "HP:0000520", "HP:0000568", - "HP:0000582", - "HP:0001751", - "UPHENO:0078736", - "UPHENO:0076675", - "UPHENO:0080601", - "NBO:0000411", + "UPHENO:0075219", + "HP:0100887", + "HP:0007670", + "UPHENO:0079837", + "HP:0000359", "HP:0000496", - "HP:0000639", - "NBO:0000417", - "UPHENO:0079839", - "UPHENO:0041395", - "HP:0000008", + "UPHENO:0080602", + "UPHENO:0003044", + "UPHENO:0066972", + "UPHENO:0080581", + "HP:0011821", + "HP:0012547", + "HP:0031704", + "UPHENO:0079828", + "UPHENO:0002240", "UBERON:0003975", - "UPHENO:0041664", - "CL:0000457", + "HP:0000008", + "UPHENO:0041033", "HP:0000130", "UPHENO:0003053", - "HP:0031105", - "UPHENO:0005170", + "UBERON:0003100", + "HP:0002719", + "UPHENO:0076766", "HP:0010460", + "UPHENO:0005170", + "UBERON:0000993", "UBERON:0013515", - "UPHENO:0076766", - "UBERON:0003134", - "UPHENO:0087928", - "UBERON:0000995", - "UPHENO:0087974", - "UPHENO:0050606", - "GO:0050882", - "UPHENO:0049622", - "UPHENO:0041033", - "HP:0031826", + "UBERON:0012358", + "GO:0002262", + "UBERON:0003620", + "UBERON:0006048", + "UBERON:5006048", + "UBERON:0015025", + "HP:0001172", + "UBERON:0015024", + "UPHENO:0076724", + "UPHENO:0021800", + "UBERON:5102389", + "NBO:0000403", + "NBO:0000001", "NBO:0000389", - "UPHENO:0079833", + "GO:0050905", + "NBO:0000338", + "UPHENO:0041151", + "UPHENO:0078622", + "HP:0000708", + "HP:0001347", + "UPHENO:0049622", + "GO:0007610", + "UPHENO:0083263", + "UBERON:0004742", + "NBO:0000388", + "UPHENO:0050620", + "GO:0060004", + "UPHENO:0050613", + "UPHENO:0080585", + "GO:0050896", + "UPHENO:0050079", + "UPHENO:0050606", + "HP:0100022", + "UPHENO:0080393", + "UPHENO:0076794", + "HP:0001551", + "HP:0001537", + "UBERON:0003697", "HP:0004299", "UPHENO:0002712", - "UPHENO:0087123", - "HP:0010866", - "HP:0004298", "HP:0003549", - "UPHENO:0075684", - "UPHENO:0075843", - "HP:0001631", - "HP:0011994", - "UBERON:0002081", - "UPHENO:0015303", - "UPHENO:0086855", + "HP:0004298", + "UBERON:0007118", + "UPHENO:0086122", + "UBERON:0000474", + "HP:0010866", + "UBERON:0000173", + "HP:0001562", + "HP:0001560", + "UBERON:0000323", + "HP:0001197", + "UPHENO:0075949", + "UPHENO:0086128", + "UPHENO:0015329", + "UPHENO:0069254", + "UBERON:0002085", + "UPHENO:0086857", "UPHENO:0019890", - "HP:0001629", - "UPHENO:0086864", - "HP:0000028", + "GO:0007600", + "HP:0001671", + "UPHENO:0019886", + "UBERON:0002094", + "UBERON:0003037", + "HP:0031654", + "HP:0011563", + "UPHENO:0042775", + "UBERON:0002099", "UPHENO:0084482", + "HP:0000218", + "UBERON:0002146", + "HP:0001714", + "UPHENO:0086864", + "UPHENO:0086863", + "HP:0001707", + "HP:0002623", + "UPHENO:0086854", "UPHENO:0084715", - "UPHENO:0033604", - "HP:0010438", - "UPHENO:0000996", - "HP:0001641", - "HP:0003220", - "HP:0011563", - "HP:0031654", - "UPHENO:0076732", + "UPHENO:0084489", "HP:0001636", + "HP:0001641", + "HP:0011025", + "UBERON:0010688", + "UPHENO:0086855", "HP:0011545", - "HP:0031653", - "UPHENO:0086854", - "UPHENO:0066927", - "UBERON:0000383", - "UPHENO:0076781", + "UPHENO:0024906", + "UPHENO:0077800", + "HP:0001637", 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"UBERON:0006555", - "BFO:0000001", - "GO:0016331", - "CL:0000232", - "HP:0002623", - "UPHENO:0004508", - ], - "has_phenotype_closure_label": [ - "decreased biological_process in skin of body", - "decreased biological_process in independent continuant", - "abnormal platelet morphology", - "Abnormal platelet morphology", - "abnormally decreased number of myeloid cell", - "serotonin secreting cell", - "Thrombocytopenia", - "abnormally decreased number of platelet", - "blood", - "abnormally decreased number of cell in the independent continuant", - "haemolymphatic fluid", - "abnormally decreased number of leukocyte in the blood", - "motile cell", - "Leukopenia", - "Abnormal immune system morphology", - "Abnormal cellular immune system morphology", - "Abnormal leukocyte morphology", - "abnormally decreased number of anatomical entity", - "Abnormal leukocyte count", - "abnormal number of anatomical enitites of type leukocyte", - "metabolic process", - "Abnormal cellular physiology", - "decreased size of the multicellular organism", - "Short stature", - "decreased height of the multicellular organism", - "myeloid cell", - "myeloid cell homeostasis", - "oxygen accumulating cell", - "hematopoietic cell", - "cell differentiation", - "cell development", - "Pyridoxine-responsive sideroblastic anemia", - "myeloid cell differentiation", - "Anemia", - "abnormal erythroid lineage cell morphology", - "abnormal hematopoietic cell morphology", - "anucleate cell", - "Abnormal erythrocyte morphology", - "Aplasia/Hypoplasia of the radius", - "radius bone", - "Almond-shaped palpebral fissure", - "Abnormal shape of the palpebral fissure", - "abnormal size of palpebral fissure", - "Short palpebral fissure", - "abnormally localised testis", - "abnormally localised anatomical entity", - "Abnormality of the lower urinary tract", - "lower urinary tract", - "renal pelvis/ureter", - "abnormal ureter morphology", - "Abnormality of the ureter", - "ureter", - "Abnormal ureter morphology", - "aplasia or hypoplasia of radius bone", - "Abnormal renal physiology", - "Renal insufficiency", - "non-functional anatomical entity", - "Puberty and gonadal disorders", - "abnormal incomplete closing of the secondary palate", - "High palate", - "increased height of the secondary palate", - "increased size of the head", - "skin of head", - "Epicanthus", - "abnormal skin of face morphology", - "increased length of the epicanthal fold", - "head or neck skin", - "epicanthal fold", - "abnormal skin of head morphology", - "Facial asymmetry", - "sloped anatomical entity", - "abnormal shape of forehead", - "sloped forehead", - "abnormal facial skeleton morphology", - "abnormal shape of palpebral fissure", - "Aplasia/Hypoplasia of the mandible", - "abnormal jaw skeleton morphology", - "abnormal mandible morphology", - "homeostatic process", - "Abnormal mandible morphology", - "Abnormal jaw morphology", - "anatomical entity hypoplasia in face", - "jaw skeleton", - "Dolichocephaly", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "facial bone hypoplasia", - "aplasia or hypoplasia of mandible", - "dentary", - "mandible hypoplasia", - "bone of lower jaw", - "abnormal immune system morphology", - "decreased size of the mandible", - "Aplasia/Hypoplasia of facial bones", - "abnormal asymmetry of anatomical entity", - "decreased sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal radius bone morphology", - "Hearing abnormality", - "chemosensory system", - "abnormal nose morphology", - "abnormal asymmetry of face", - "internal naris atresia", - "abnormal number of anatomical enitites of type hematopoietic cell", - "naris", - "olfactory organ", - "abnormal nose", - "olfactory system", - "Abnormal nasal morphology", - "abnormal posterior nasal aperture morphology", - "Abnormality of the choanae", - "abnormal lower urinary tract", - "posterior nasal aperture atresia", - "Strabismus", - "Abnormality of vision", - "Hypopigmentation of the skin", - "sensory perception", - "visual perception", - "Visual impairment", - "abnormal urethra", - "abnormal sensory perception", - "sensory perception of light stimulus", - "decreased qualitatively visual perception", - "Proptosis", - "abnormal size of eyeball of camera-type eye", - "Microphthalmia", - "Abnormality of globe size", - "Abnormality of the palpebral fissures", - "Slanting of the palpebral fissure", - "abnormality of internal ear physiology", - "vestibulo-ocular reflex", - "Nystagmus", - "physiologic nystagmus", - "eye movement", - "abnormal eye movement", - "Functional abnormality of the inner ear", - "abnormal internal ear", - "abnormality of ear physiology", - "internal ear", - "female reproductive system", - "abnormal internal female genitalia morphology", - "Abnormality of metabolism/homeostasis", - "abnormal female reproductive organ morphology", - "shape uterus", - "Abnormality of the uterus", - "decreased qualitatively sensory perception of sound", - "subdivision of oviduct", - "bicornuate uterus", - "abnormal female reproductive system morphology", - "abnormal uterus", - "Bicornuate uterus", - "sensory perception of sound", - "female reproductive organ", - "uterus", - "female organism", - "skin of eyelid", - "bicornuate anatomical entity", - "internal female genitalia", - "decreased qualitatively pigmentation in independent continuant", - "abnormal behavior", - "neuromuscular process", - "voluntary musculoskeletal movement", - "abnormal response to external stimulus", - "response to external stimulus", - "Abnormal reflex", - "Abnormality of movement", - "voluntary movement behavior", - "body part movement", - "behavior process", - "reflex", - "abnormal voluntary movement behavior", - "decreased qualitatively biological_process in independent continuant", - "abnormal behavior process", - "decreased embryo development", - "Hypogonadism", - "abnormal umbilicus morphology", - "Abnormal umbilicus morphology", - "biogenic amine secreting cell", - "changed embryo development rate", - "abdominal wall", - "Hernia", - "connective tissue", - "abnormal incomplete closing of the abdominal wall", - "herniated anatomical entity", - "abnormal voluntary musculoskeletal movement", - "Abnormality of the abdominal wall", - "abnormal cardiac atrium morphology", - "cardiac atrium", - "abnormal cardiac atrium morphology in the independent continuant", - "interatrial septum", - "abnormal interatrial septum morphology", - "eukaryotic cell", - "Abnormal cardiac atrium morphology", - "Atrial septal defect", - "abnormally increased volume of anatomical entity", - "abnormal internal naris", - "hypertrophic cardiac ventricle", - "Overriding aorta", - "erythrocyte differentiation", - "Abdominal wall defect", - "Pulmonic stenosis", - "abnormal pulmonary valve morphology", - "aplasia or hypoplasia of skull", - "Abnormal cardiac septum morphology", - "Abnormal right ventricle morphology", - "cardiac septum", - "Abnormal facial skeleton morphology", - "right cardiac chamber", - "abnormal size of heart right ventricle", - "Abnormal ventriculoarterial connection", - "Abnormal ventricular septum morphology", - "abnormal cardiac septum morphology", - "Abnormal connection of the cardiac segments", - "Ventricular hypertrophy", - "hypertrophic heart right ventricle", - "abnormally decreased functionality of the anatomical entity", - "abnormally decreased number of leukocyte in the independent continuant", - "myocardium", - "abnormal myocardium morphology", - "abnormally decreased functionality of the myocardium", - "anatomical entity dysfunction in independent continuant", - "abnormal sensory perception of sound", - "Abnormal myocardium morphology", - "Patent ductus arteriosus", - "Abnormal male urethral meatus morphology", - "vasculature of trunk", - "heart blood vessel", - "embryonic cardiovascular system", - "Abnormal conjugate eye movement", - "Congenital malformation of the great arteries", - "conceptus", - "abnormal coronary vessel morphology", - "abnormal artery morphology in the independent continuant", - "abnormal incomplete closing of the ductus arteriosus", - "abnormal ductus arteriosus morphology", - "outflow tract", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal cardiac ventricle morphology in the heart", - "lower jaw region", - "abnormal uterus morphology", - "valve", - "semi-lunar valve", - "cardiac ventricle", - "outflow tract of ventricle", - "abnormal cardiac valve morphology in the heart", - "abnormal heart left ventricle morphology", - "glans", - "abnormal cardiac ventricle morphology", - "Abnormal aortic valve morphology", - "abnormal cardiac valve morphology in the independent continuant", - "outflow part of left ventricle", - "abnormal cardiac valve morphology", - "primary circulatory organ", - "Abnormal heart valve morphology", - "abnormal embryo development", - "abnormal abdominal wall", - "Abnormal cardiac ventricle morphology", - "thoracic cavity blood vessel", - "abnormal aorta morphology", - "Abnormal morphology of the great vessels", - "cellular developmental process", - "Abnormal aortic morphology", - "aortic system", - "flat anatomical entity in independent continuant", - "Increased head circumference", - "flat longitudinal arch of pes", - "flattened anatomical entity", - "flat anatomical entity", - "Pes planus", - "abnormally fused pedal digit and pedal digit", - "decreased multicellular organism mass", - "Weight loss", - "abnormality of anatomical entity mass", - "abnormality of multicellular organism mass", - "Decreased body weight", - "Decreased multicellular organism mass", - "decreased anatomical entity mass", - "frontal cortex", - "abnormal cerebral cortex morphology", - "prominent anatomical entity", - "cerebral hemisphere gray matter", - "forehead", - "prominent forehead", - "abnormally localised anatomical entity in independent continuant", - "Hypospadias", - "abnormal cranium morphology", - "abnormal shape of frontal cortex", - "cortex of cerebral lobe", - "abnormal neocortex morphology", - "dermal skeleton", - "primary subdivision of cranial skeletal system", - "cranium", - "central nervous system gray matter layer", - "dermal bone", - "non-functional kidney", - "pallium", - "Abnormal uterus morphology", - "central nervous system cell part cluster", - "dermal skeletal element", - "lobe of cerebral hemisphere", - "Abnormality of the forehead", - "cerebral hemisphere", - "great vessel of heart", - "Abnormal shape of the frontal region", - "Hypopigmented skin patches", - "neurocranium", - "dermatocranium", - "cranial bone", - "secretory cell", - "bone of craniocervical region", - "abnormal frontal cortex morphology", - "abnormal neurocranium morphology", - "heart layer", - "intramembranous bone", - "membrane bone", - "abnormal tetrapod frontal bone morphology", - "abnormal forehead", - "abnormal anus", - "Anal atresia", - "anus atresia", - "heart plus pericardium", - "Abnormality of the anus", - "Abnormal ileum morphology", - "abnormal ileum morphology", - "ganglion of peripheral nervous system", - "decreased pigmentation in independent continuant", - "neocortex", - "parasympathetic ganglion", - "decreased length of palpebral fissure", - "abnormal parasympathetic ganglion morphology", - "abnormal enteric ganglion morphology", - "involuntary movement behavior", - "abnormal enteric nervous system morphology", - "abnormal parasympathetic nervous system morphology", - "decreased height of the anatomical entity", - "Abnormality of the autonomic nervous system", - "abnormal autonomic nervous system", - "platelet", - "enteric ganglion", - "autonomic nervous system", - "abnormal ganglion of peripheral nervous system morphology", - "nucleate cell", - "Scoliosis", - "Abnormal peripheral nervous system ganglion morphology", - "abnormal autonomic nervous system morphology", - "Abnormality of femur morphology", - "hindlimb stylopod", - "abnormal hindlimb stylopod morphology", - "abnormal femur morphology", - "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "bone of hip region", - "pelvic girdle skeleton", - "articulation", - "Abnormality of the nose", - "orifice", - "zone of organ", - "Abnormal hip bone morphology", - "trunk bone", - "sensory perception of mechanical stimulus", - "hip", - "appendage girdle region", - "excretory tube", - "hip joint", - "zone of bone organ", - "girdle skeleton", - "Abnormality of lower limb joint", - "anatomical entity dislocation", - "girdle bone/zone", - "hip dislocation", - "Abnormal hip joint morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "skeletal joint", - "abnormal hindlimb joint", - "synovial joint", - "pelvic region element", - "pelvic region of trunk", - "abnormal skeletal joint morphology", - "abnormal joint of girdle morphology", - "Right ventricular hypertrophy", - "abnormal hip joint morphology", - "abnormal synovial joint of pelvic girdle morphology", - "Forearm undergrowth", - "decreased size of the anatomical entity in the independent continuant", - "heart", - "Aplasia/Hypoplasia of the ulna", - "decreased length of forelimb zeugopod bone", - "decreased length of anatomical entity", - "Abnormality of the urethra", - "forelimb zeugopod bone hypoplasia", - "ulna hypoplasia", - "decreased length of anatomical entity in independent continuant", - "interventricular septum", - "Upper limb undergrowth", - "decreased size of the anatomical entity", - "decreased length of long bone", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Lower extremity joint dislocation", - "Limb undergrowth", - "decreased size of the ulna", - "Hypoplasia of the ulna", - "aplasia or hypoplasia of ulna", - "bone element hypoplasia in independent continuant", - "vault of skull", - "abnormal spatial pattern of anatomical entity", - "aorta", - "manual digit 5", - "abnormality of kidney physiology", - "Hyperreflexia", - "anatomical entity atresia", - "enteric nervous system", - "Abnormal 5th finger morphology", - "Deviation of finger", - "Clinodactyly of the 5th finger", - "Deviation of the 5th finger", - "deviation of manual digit 5 towards the middle", - "Finger clinodactyly", - "deviation of anatomical entity towards the middle", - "deviation of anatomical entity", - "Decreased bone element mass density", - "Decreased anatomical entity mass density", - "ossification", - "Abnormality of bone mineral density", - "Syndactyly", - "Finger syndactyly", - "abnormally fused manual digit and manual digit", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "Aplasia/hypoplasia involving the skeleton", - "Aplasia/hypoplasia involving bones of the upper limbs", - "anatomical entity hypoplasia", - "Aplasia/hypoplasia involving bones of the hand", - "Aplasia/Hypoplasia of fingers", - "aplasia or hypoplasia of skeleton", - "Hypermelanotic macule", - "increased pigmentation in skin of body", - "increased pigmentation in independent continuant", - "increased qualitatively biological_process in independent continuant", - "Cafe-au-lait spot", - "deviation of manual digit 5", - "increased qualitatively biological_process", - "abnormally formed anatomical entity", - "Abnormal uvea morphology", - "abnormal iris morphology", - "Aplasia/Hypoplasia affecting the eye", - "joint of girdle", - "abnormal uvea morphology", - "anterior chamber of eyeball", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "chamber of eyeball", - "abnormal number of anatomical enitites of type platelet", - "uvea", - "Abnormal anterior chamber morphology", - "Abnormality iris morphology", - "Ocular anterior segment dysgenesis", - "abnormally formed anterior chamber of eyeball", - "iris", - "Renal hypoplasia/aplasia", - "zone of skin", - "abnormal palatine uvula morphology", - "Abnormal uvula morphology", - "midface", - "Abnormal oral cavity morphology", - "secondary palate", - "soft palate", - "anatomical cavity", - "Aplasia/Hypoplasia of the uvula", - "abnormal response to stimulus", - "morphological feature", - "abnormal blood cell", - "ganglion", - "abnormal pigmentation in independent continuant", - "abnormal anterior chamber of eyeball morphology", - "abnormal mouth", - "Abnormal soft palate morphology", - "abnormal size of multicellular organism", - "Abnormality of the abdominal organs", - "abnormal mouth morphology", - "Abnormality of the inner ear", - "abnormal vein morphology", - "Abnormal venous morphology", - "Cleft palate", - "abnormal anatomical entity morphology in the pelvic complex", - "Abnormality of the upper urinary tract", - "abnormal physiologic nystagmus", - "skeleton of pelvic complex", - "respiratory airway", - "kidney", - "oviduct", - "Abnormal localization of kidney", - "Sloping forehead", - "anterior uvea", - "abnormal kidney morphology", - "Abnormality of the cardiovascular system", - "hindlimb", - "Clubbing of toes", - "Orofacial cleft", - "Abnormal toe morphology", - "leukocyte", - "clavate anatomical entity", - "abnormal bone of pelvic complex morphology", - "abnormal skin of body", - "concave 3-D shape anatomical entity", - "posterior region of body", - "abnormal embryo morphology", - "abnormal upper urinary tract", - "Abnormal autonomic nervous system morphology", - "Abnormal midface morphology", - "abnormal pedal digit morphology", - "abdominal segment bone", - "3-D shape anatomical entity", - "longitudinal arch of pes", - "pedal digitopodium region", - "Cryptorchidism", - "synovial joint of pelvic girdle", - "pes", - "sensory system", - "pedal digit bone", - "Abnormal lower limb bone morphology", - "anatomical system", - "pedal digitopodium bone", - "primary subdivision of skull", - "Aplasia/Hypoplasia of the iris", - "pedal digit phalanx endochondral element", - "Irregular hyperpigmentation", - "hindlimb bone", - "hindlimb long bone", - "Global developmental delay", - "decreased size of the anatomical entity in the pectoral complex", - "leg", - "small intestine", - "Small intestinal stenosis", - "anatomical space", - "intestine", - "internal genitalia", - "pes bone", - "duodenum", - "Abnormal intestine morphology", - "frontal lobe", - "abnormal biological_process in independent continuant", - "ventricle of nervous system", - "pedal digit plus metapodial segment", - "Clinodactyly", - "growth", - "abnormal skull morphology", - "abnormal renal system morphology", - "hindlimb skeleton", - "Growth abnormality", - "delayed growth", - "Abnormal cardiovascular system physiology", - "hindlimb joint", - "cavitated compound organ", - "abnormal late embryo", - "abnormal ocular surface region morphology", - "abnormal hindlimb morphology", - "amniotic fluid", - "Abnormality of the amniotic fluid", - "Arteriovenous malformation", - "abnormal anus morphology", - "Abnormality of prenatal development or birth", - "shape forehead", - "abnormal soft palate morphology", - "Oligohydramnios", - "abnormally protruding eyeball of camera-type eye", - "cerebrospinal fluid", - "Aplasia/Hypoplasia affecting the uvea", - "Abnormal cerebrospinal fluid morphology", - "Abnormal erythroid lineage cell morphology", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "abnormal trachea morphology", - "upper digestive tract", - "abnormal cerebrospinal fluid morphology", - "immaterial entity", - "Toe syndactyly", - "trunk", - "pedal digit", - "Abnormality of globe location", - "musculature of body", - "ventricular system of brain", - "Hypertelorism", - "abnormal visual perception", - "increased length of the anatomical line between pupils", - "male germ cell", - "anatomical line", - "pelvic appendage", - "increased anatomical entity length in independent continuant", - "Cardiomyopathy", - "abnormal oral cavity morphology", - "abnormal location of anatomical entity", - "hypothalamus-pituitary axis", - "abnormal hypothalamus-pituitary axis", - "nervous system process", - "exocrine system", - "kinesthetic behavior", - "flattened anatomical entity in independent continuant", - "anatomical entity hypoplasia in independent continuant", - "blood vessel", - "hepatobiliary system", - "Intrauterine growth retardation", - "abdomen", - "liver", - "Abnormality of the endocrine system", - "abnormal brain ventricle morphology", - "Displacement of the urethral meatus", - "abnormal size of brain ventricle", - "Ventriculomegaly", - "Abnormal cerebral ventricle morphology", - "increased size of the anatomical entity", - "multi cell part structure", - "abnormality of internal male genitalia physiology", - "abnormal brain ventricle/choroid plexus morphology", - "hemopoiesis", - "Abnormal vestibulo-ocular reflex", - "femur", - "Metazoa", - "opaque lens of camera-type eye", - "Abnormal ear morphology", - "abnormal external ear", - "Abnormality of the outer ear", - "abnormal number of anatomical entities of type anatomical entity in blood", - "skeleton of pedal acropodium", - "abnormal external ear morphology", - "Abnormality of the ear", - "Abnormal pinna morphology", - "Abnormal frontal bone morphology", - "abdominal segment element", - "digit 1 plus metapodial segment", - "abnormal ear", - "external ear", - "abnormal number of anatomical enitites of type sperm", - "decreased biological_process", - "Cataract", - "semen", - "reproductive process", - "bony vertebral centrum", - "Decreased fertility in males", - "reproduction", - "abnormal ear morphology", - "Abnormal internal genitalia", - "brain ventricle", - "abnormal closing of the anatomical entity", - "Abnormal testis morphology", - "subdivision of skeleton", - "abnormal anatomical entity, curved", - "sexual reproduction", - "developmental process involved in reproduction", - "segment of pes", - "multicellular organismal reproductive process", - "skeleton of pedal digitopodium", - "abnormal reproductive process", - "skin of face", - "decreased qualitatively developmental process", - "multicellular organismal movement", - "Abnormal atrial septum morphology", - "absent anatomical entity in the semen", - "abnormal anatomical entity length", - "abnormal number of anatomical enitites of type cell", - "germ line cell", - "cardiac chamber", - "abnormal anatomical entity morphology", - "changed developmental process rate", - "Hip dislocation", - "malformed anatomical entity", - "Abnormal peripheral nervous system morphology", - "root", - "abnormal multicellular organismal reproductive process", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormally fused anatomical entity and anatomical entity", - "aplasia or hypoplasia of palatine uvula", - "absent gamete", - "digit 5", - "venous blood vessel", - "Functional abnormality of male internal genitalia", - "anatomical wall", - "absent sperm in the semen", - "Abnormality of the liver", - "obsolete multicellular organism reproduction", - "Azoospermia", - "decreased pigmentation in multicellular organism", - "Sideroblastic anemia", - "Non-obstructive azoospermia", - "increased biological_process in skin of body", - "abnormal cornea, asymmetrically curved", - "absent anatomical entity in the multicellular organism", - "Abnormal heart morphology", - "Multiple cafe-au-lait spots", - "pelvic complex", - "sperm", - "deviation of digit towards the middle", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "increased size of the anatomical entity in independent continuant", - "absent anatomical entity in the independent continuant", - "decreased qualitatively biological_process", - "specifically dependent continuant", - "Abnormal spermatogenesis", - "Micrognathia", - "abnormal internal genitalia", - "Abnormality of the face", - "decreased qualitatively reproductive process", - "abnormal heart right ventricle morphology", - "Abnormal toe phalanx morphology", - "Abnormal ganglion morphology", - "abnormal anatomical entity mass density", - "male gamete generation", - "decreased developmental process", - "abnormal gamete generation", - "abnormal developmental process involved in reproduction", - "abnormal interventricular septum morphology", - "abnormal anatomical entity morphology in the heart", - "prepuce", - "Decreased fertility", - "integument", - "pigmentation", - "brain ventricle/choroid plexus", - "abnormal vault of skull", - "Abnormality of skin morphology", - "Abnormality of the skin", - "abnormal craniocervical region morphology", - "abnormal integument", - "Abnormal oral morphology", - "abnormal skin of body morphology", - "Abnormality of brain morphology", - "erythrocyte homeostasis", - "abnormal arch of centrum of vertebra", - "venous system", - "Abnormal forebrain morphology", - "abnormal anatomical entity morphology in the brain", - "abnormal telencephalon morphology", - "Abnormal involuntary eye movements", - "aplasia or hypoplasia of anatomical entity", - "abnormal pes morphology", - "All", - "organism", - "increased size of the heart right ventricle", - "Abnormal skull morphology", - "embryonic tissue", - "Opisthokonta", - "reproductive organ", - "digitopodium bone", - "organism substance", - "eye", - "Aplasia/Hypoplasia of the testes", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormality of reproductive system physiology", - "regional part of brain", - "Microcephaly", - "increased qualitatively response to stimulus", - "endocrine system", - "skull", - "abnormal size of anatomical entity", - "aplasia or hypoplasia of telencephalon", - "abnormal leukocyte morphology", - "abnormal brain morphology", - "skeleton of pes", - "stylopod", - "organ part", - "immune system", - "renal system", - "esophagus", - "Abnormality of the urinary system physiology", - "skeleton of lower jaw", - "bone of appendage girdle complex", - "Unusual infection", - "excretory system", - "abnormal renal system", - "Abnormality of the immune system", - "palpebral fissure", - "abnormally fused pedal digit and anatomical entity", - "autonomic ganglion", - "deviation of manual digit towards the middle", - "Recurrent urinary tract infections", - "Abnormality of the urinary system", - "Ptosis", - "Craniofacial cleft", - "ductus arteriosus", - "neuron projection bundle", - "abnormal eyelid morphology", - "intromittent organ", - "Abnormality of skin pigmentation", - "autopodial extension", - "eyelid", - "abnormal camera-type eye morphology", - "Abnormal male reproductive system physiology", - "drooping eyelid", - "organ system subdivision", - "Abnormal eyelid morphology", - "anatomical line between pupils", - "system development", - "ocular adnexa", - "tissue morphogenesis", - "abnormal manus morphology", - "Abnormality of immune system physiology", - "multi organ part structure", - "Meckel diverticulum", - "transparent eye structure", - "Abnormal lens morphology", - "lens of camera-type eye", - "abnormal immune system", - "neural tube", - "opaque anatomical entity", - "abnormal anatomical entity morphology in the manus", - "Abnormality of skull size", - "abnormal manus", - "ventricular system of central nervous system", - "acropodium region", - "neural tube closure", - "manual digit 1", - "abnormal nervous system", - "manual digit plus metapodial segment", - "abnormal shape of external ear", - "skeleton of manus", - "gonad", - "abnormal zone of skin morphology", - "postcranial axial skeletal system", - "digit 1 digitopodial skeleton", - "asymmetrically curved anatomical entity", - "forelimb zeugopod bone", - "manual digit digitopodial skeleton", - "skeleton of manual acropodium", - "Abnormal digit morphology", - "abnormal manual digit morphology in the manus", - "Hernia of the abdominal wall", - "femur endochondral element", - "Abnormality of head or neck", - "Abnormality of reproductive system physiology", - "digit plus metapodial segment", - "abnormal kidney", - "trunk blood vessel", - "bone of pelvic complex", - "Abnormal bone structure", - "acropodial skeleton", - "abnormal bone element mass density", - "brain", - "manual digitopodium region", - "Hypertrophic cardiomyopathy", - "manus", - "cardiac valve", - "decreased spermatogenesis", - "abnormal prepuce of penis morphology", - "abnormal endocrine system", - "limb long bone", - "manual digit bone", - "Abnormal thumb morphology", - "Eumetazoa", - "segment of autopod", - "jaw region", - "manual digit phalanx endochondral element", - "abnormal manual digit morphology in the independent continuant", - "vein", - "internal male genitalia", - "Abnormal ocular adnexa morphology", - "Abnormal pulmonary valve physiology", - "Abnormality of thumb phalanx", - "Abnormal finger phalanx morphology", - "arterial system", - "abnormal phalanx of manus morphology", - "septum", - "autopodial skeleton", - "coronary vessel", - "abnormal anatomical entity, asymmetrically curved", - "abnormal anatomical entity morphology in the skeleton of manus", - "facial bone", - "Hearing impairment", - "abnormal digit", - "abnormally fused anatomical entity and manual digit", - "digestive system gland", - "abnormal ganglion morphology", - "phalanx", - "manual digit 1 phalanx endochondral element", - "autopod endochondral element", - "autopod bone", - "phalanx of manus", - "main body axis", - "manual digit", - "tetrapod frontal bone", - "limb joint", - "abnormal phalanx morphology", - "male reproductive system", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "future central nervous system", - "abnormally fused digit and anatomical entity", - "Growth delay", - "abnormal location of eyeball of camera-type eye", - "digitopodium region", - "Abnormality of the vertebral column", - "ecto-epithelium", - "embryonic structure", - "skeletal joint dislocation", - "developmental process", - "manual digit 1 digitopodial skeleton", - "abnormal vertebral column", - "abnormality of camera-type eye physiology", - "cranial nerve", - "embryonic epithelial tube formation", - "Abnormality of the peripheral nervous system", - "Hypoplastic facial bones", - "abnormal semi-lunar valve morphology", - "Reduced bone mineral density", - "Macule", - "abnormal reproductive system", - "anatomical structure formation involved in morphogenesis", - "Choanal atresia", - "Abnormal cerebral cortex morphology", - "anatomical structure development", - "male urethra", - "Abnormal vascular morphology", - "embryonic morphogenesis", - "Abnormal eye physiology", - "Abnormality of the lower limb", - "abnormal erythrocyte morphology", - "postcranial axial skeleton", - "Abnormal cellular phenotype", - "vertebral column", - "abnormal long bone morphology", - "paired limb/fin skeleton", - "morphogenesis of an epithelium", - "articular system", - "neural tube development", - "tube morphogenesis", - "innominate bone", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormally increased number of anatomical entity", - "abnormal blood cell morphology", - "subdivision of organism along appendicular axis", - "abnormal embryonic tissue morphology", - "abnormal myeloid cell morphology", - "Abnormality of the nervous system", - "respiratory tract", - "abnormal cell morphology", - "primary neural tube formation", - "neural tube formation", - "Abnormal small intestine morphology", - "abnormal secondary palate morphology", - "digestive system", - "abnormal neural tube closure", - "erythrocyte", - "telencephalon", - "Hydrocephalus", - "manual digit 1 plus metapodial segment", - "Abnormal vertebral morphology", - "Spina bifida", - "Abnormality of mental function", - "tissue", - "abnormally decreased number of cell", - "abnormal intestine morphology", - "abnormal vertebra morphology", - "abnormal anatomical entity topology in independent continuant", - "Abnormal myeloid cell morphology", - "palatine uvula", - "nervous system", - "morphogenesis of embryonic epithelium", - "Abnormality of the kidney", - "Abnormality of male external genitalia", - "limb segment", - "cerebral cortex", - "gray matter of forebrain", - "abnormal incomplete closing of the arch of centrum of vertebra", - "dorsum", - "roof of mouth", - "absent anatomical entity", - "central nervous system", - "circulatory organ", - "abnormal outflow part of left ventricle morphology", - "abnormality of male reproductive system physiology", - "glandular system", - "reflexive behavior", - "abnormal tube formation", - "Abnormality of chromosome stability", - "Abnormal blood vessel morphology", - "spinal cord", - "abnormal limb bone morphology", - "abnormal opening of the anatomical entity", - "abnormal number of anatomical enitites of type myeloid cell", - "Vertebral arch anomaly", - "Frontal bossing", - "axial skeleton plus cranial skeleton", - "gray matter of telencephalon", - "parasympathetic nervous system", - "prepuce of penis", - "vertebra", - "abnormality of anatomical entity physiology", - "artery", - "vasculature", - "Abnormal anus morphology", - "Abnormality of limb bone", - "Decreased head circumference", - "sense organ", - "subdivision of skeletal system", - "circulatory system", - "abnormally decreased number of anatomical entity in the multicellular organism", - "cardiovascular system", - "process", - "epithelium", - "abnormal neural tube morphology", - "Abnormal respiratory system physiology", - "abnormal bone of pectoral complex morphology", - "urethral opening", - "camera-type eye", - "shape longitudinal arch of pes", - "Abnormality of the upper limb", - "embryo development", - "anatomical projection", - "Abnormal reproductive system morphology", - "systemic arterial system", - "viscus", - "arterial blood vessel", - "Abnormal eye morphology", - "abnormal cardiovascular system morphology", - "abnormally formed anatomical entity in independent continuant", - "abnormal anterior segment of eyeball morphology", - "thoracic segment of trunk", - "umbilicus", - "vascular system", - "dorsal region element", - "Abnormality of the vasculature", - "abnormal cerebral hemisphere morphology", - "common carotid artery plus branches", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal cardiovascular system", - "abnormal common carotid artery plus branches morphology", - "quality", - "epithelial tube", - "abnormal digestive system morphology", - "Abnormal systemic arterial morphology", - "abnormal duodenum morphology", - "Abnormal cranial nerve physiology", - "nerve", - "peripheral nervous system", - "Abnormal neural tube morphology", - "paralysed anatomical entity", - "Abnormal pelvic girdle bone morphology", - "Clubbing", - "Upslanted palpebral fissure", - "forebrain", - "Eukaryota", - "ileum", - "abnormal synovial joint morphology", - "abnormal peripheral nervous system", - "aplasia or hypoplasia of uvea", - "future nervous system", - "increased reflex", - "forelimb", - "transudate", - "shape cornea", - "bone of free limb or fin", - "abnormal olfactory system morphology", - "Abnormal appendicular skeleton morphology", - "abnormal incomplete closing of the anatomical entity", - "pectoral appendage", - "bodily fluid", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormal limb long bone morphology", - "cranial nerve related reflex", - "Abnormal upper limb bone morphology", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal nervous system morphology", - "abnormal incomplete closing of the interatrial septum", - "forelimb zeugopod", - "multi-limb segment region", - "bone of jaw", - "organ", - "Abnormal cornea morphology", - "abnormal female reproductive system", - "abnormal nervous system morphology", - "vasculature of organ", - "Cranial nerve paralysis", - "abnormal cell", - "abnormal innominate bone morphology", - "bone element", - "digit 1", - "upper jaw region", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "left cardiac chamber", - "abnormal vascular system morphology", - "Abnormal foot morphology", - "visual system", - "thoracic segment organ", - "limb bone", - "cranial skeletal system", - "abnormal vertebral column morphology", - "organism subdivision", - "vestibulo-auditory system", - "absent germ cell", - "paired limb/fin", - "Recurrent infections", - "response to stimulus", - "brain gray matter", - "forelimb endochondral element", - "Abnormal curvature of the vertebral column", - "pectoral appendage skeleton", - "Conotruncal defect", - "abnormal limb", - "abnormal peripheral nervous system morphology", - "simple eye", - "abnormal forelimb morphology", - "Abnormal carotid artery morphology", - "skeletal element", - "abnormal bony vertebral centrum morphology", - "internal naris", - "non-connected functional system", - "abnormal forelimb zeugopod morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormality of multicellular organism height", - "Abnormal forearm bone morphology", - "abnormal forehead morphology", - "Abnormal form of the vertebral bodies", - "Aplasia/hypoplasia of the extremities", - "skeleton of digitopodium", - "skeleton of pectoral complex", - "abnormal systemic artery morphology", - "abnormal manual digit 5 morphology", - "Abnormality of the integument", - "vertebral centrum element", - "urethra", - "paired limb/fin segment", - "external soft tissue zone", - "Abnormal skeletal morphology", - "Tetralogy of Fallot", - "abnormal size of skull", - "Abnormality of the musculoskeletal system", - "abnormal development of anatomical entity", - "ulna", - "trunk region element", - "anatomical entity", - "pectoral complex", - "abnormal great vessel of heart morphology", - "abnormal midface morphology", - "abnormal appendicular skeleton morphology", - "immune system process", - "tunica fibrosa of eyeball", - "abnormal developmental process", - "bone of pectoral complex", - "forelimb skeleton", - "abdominal segment of trunk", - "digit", - "endoderm-derived structure", - "Abnormal respiratory system morphology", - "Abnormal morphology of ulna", - "urethral meatus", - "layer of muscle tissue", - "head bone", - "Abnormality of the skeletal system", - "increased biological_process", - "arm bone", - "appendage girdle complex", - "abnormally fused manual digit and anatomical entity", - "endochondral bone", - "abnormally decreased number of leukocyte", - "irregular bone", - "abnormal ulna morphology", - "arch of centrum of vertebra", - "abnormal musculoskeletal movement", - "Abnormality of the respiratory system", - "abnormal skeletal system", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "Abnormal pulmonary valve morphology", - "Abnormal hand morphology", - "abnormal aortic valve morphology", - "Tracheoesophageal fistula", - "abnormality of cranial nerve physiology", - "Abnormality of body height", - "Abnormal palate morphology", - "Abnormality of limb bone morphology", - "phalanx of pes", - "biological_process", - "nervous system development", - "abnormal heart layer morphology", - "Abnormal forearm morphology", - "Abnormality of the hypothalamus-pituitary axis", - "penis", - "abnormal phalanx of pes morphology", - "Morphological central nervous system abnormality", - "phalanx endochondral element", - "limb skeleton subdivision", - "decreased qualitatively pigmentation", - "abnormal ocular adnexa", - "Hydroureter", - "posterior nasal aperture", - "abnormally fused anatomical entity and digit", - "Neurodevelopmental abnormality", - "abnormal penis morphology", - "male urethral meatus", - "Abnormality of the female genitalia", - "abnormal testis morphology", - "Abnormal esophagus morphology", - "abnormal anterior uvea morphology", - "reproductive system", - "abnormal sensory perception of light stimulus", - "exocrine gland", - "abnormal male reproductive system morphology", - "entity", - "Abnormality of the curvature of the cornea", - "abnormally decreased functionality of the gonad", - "skeleton of manual digitopodium", - "axial skeletal system", - "decreased biological_process in multicellular organism", - "hypertrophic multicellular anatomical structure", - "Abnormal joint morphology", - "spermatogenesis", - "absent sperm", - "abnormal liver", - "abnormally fused anatomical entity and pedal digit", - "Aplasia/hypoplasia involving forearm bones", - "abnormality of nervous system physiology", - "abnormality of anatomical entity height", - "abnormal genitourinary system", - "Abnormality of connective tissue", - "aplasia or hypoplasia of eyeball of camera-type eye", - "independent continuant", - "abnormal orbital region", - "shape digit", - "curved anatomical entity", - "long bone", - "Abnormal spinal cord morphology", - "abnormal male reproductive system", - "Hyperpigmentation of the skin", - "epithelium development", - "manual digit 1 or 5", - "reproductive structure", - "obsolete cell", - "male reproductive organ", - "Umbilical hernia", - "abnormal reproductive system morphology", - "thoracic segment blood vessel", - "Abnormality of the gastrointestinal tract", - "Cognitive impairment", - "abnormal external genitalia", - "abnormal cornea morphology", - "Abnormal external genitalia", - "anterior region of body", - "Triphalangeal thumb", - "epithelial tube formation", - "abnormal pelvic girdle bone/zone morphology", - "skeleton of limb", - "multicellular organismal-level homeostasis", - "manus bone", - "nervous system cell part layer", - "skeleton", - "pelvic girdle region", - "individual digit of digitopodial skeleton", - "developing anatomical structure", - "Abnormal preputium morphology", - "integumental system", - "abnormal gamete", - "Abnormal nervous system physiology", - "anatomical structure", - "abnormally increased number of anatomical entity in the independent continuant", - "Morphological abnormality of the gastrointestinal tract", - "upper leg bone", - "Abnormality of the mouth", - "Abnormal penis morphology", - "lateral structure", - "limb", - "Abnormality of the hand", - "appendicular skeletal system", - "increased height of anatomical entity in independent continuant", - "germ cell", - "abnormality of cardiovascular system physiology", - "multicellular organism development", - "abnormal spermatogenesis", - "segment of manus", - "Joint dislocation", - "body proper", - "cellular process", - "Abnormal anterior eye segment morphology", - "abnormal connective tissue", - "aortic valve", - "abnormal eyeball of camera-type eye", - "testis", - "shape eyelid", - "craniocervical region", - "Abnormality of the genital system", - "Deviation of the hand or of fingers of the hand", - "paralysed cranial nerve", - "abnormal vasculature", - "nerve of head region", - "upper urinary tract", - "hindlimb endochondral element", - "abnormally increased number of brain ventricle in the independent continuant", - "delayed biological_process", - "skeletal system", - "Neoplasm", - "system process", - "manual digit 1 phalanx", - "Abnormal calvaria morphology", - "abnormal forelimb zeugopod bone", - "increased height of the anatomical entity", - "external male genitalia", - "upper eyelid", - "Abnormal ear physiology", - "Astigmatism", - "abnormal arm", - "decreased pigmentation in skin of body", - "abnormal small intestine morphology", - "Abnormal cerebral morphology", - "organ subunit", - "organ component layer", - "Ventricular septal defect", - "abnormality of immune system physiology", - "genitourinary system", - "multicellular organismal process", - "anterior segment of eyeball", - "cognition", - "subdivision of head", - "abnormal central nervous system morphology", - "Abnormal renal morphology", - "continuant", - "haploid cell", - "Abnormality of limbs", - "Abnormality of eye movement", - "abnormal alimentary part of gastrointestinal system morphology", - "material entity", - "Abnormal platelet count", - "abnormal head", - "asymmetrically curved cornea", - "face", - "abnormal craniocervical region", - "entire sense organ system", - "pelvic appendage skeleton", - "upper limb segment", - "Abnormal duodenum morphology", - "neural crest-derived structure", - "abdomen element", - "Abnormality of the orbital region", - "cranial neuron projection bundle", - "curvature anatomical entity", - "heart vasculature", - "arm", - "respiratory tube", - "ocular surface region", - "Abnormality of enteric ganglion morphology", - "disconnected anatomical group", - "drooping anatomical entity", - "presumptive structure", - "abnormal limb morphology", - "Abnormal facial shape", - "eyeball of camera-type eye", - "curved anatomical entity in independent continuant", - "Duodenal stenosis", - "musculoskeletal system", - "abnormal nerve", - "Abnormality of refraction", - "appendage", - "homeostasis of number of cells", - "embryo", - "Aganglionic megacolon", - "changed biological_process rate", - "blood cell", - "abnormal spinal cord morphology", - "Atypical behavior", - "Neural tube defect", - "abnormally decreased number of hematopoietic cell", - "tracheobronchial tree", - "protein-containing material entity", - "abnormal autopod region morphology", - "abnormal shape of cornea", - "radius endochondral element", - "Abnormal morphology of the radius", - "abnormal respiratory tube morphology", - "epithelial tube morphogenesis", - "alimentary part of gastrointestinal system", - "abnormal platelet", - "anatomical cluster", - "Abnormality of corneal shape", - "appendicular skeleton", - "Abnormality of blood and blood-forming tissues", - "Abnormal axial skeleton morphology", - "Abnormality of thrombocytes", - "facial skeleton", - "Aplasia/Hypoplasia of the cerebrum", - "abnormal male reproductive organ morphology", - "male organism", - "regional part of nervous system", - "shape anatomical entity", - "digit 5 plus metapodial segment", - "tube closure", - "Abnormal heart valve physiology", - "forelimb bone", - "Abnormal vestibular function", - "abnormal head morphology", - "head", - "oral cavity", - "abnormal respiratory system", - "herniated abdominal wall", - "male gamete", - "Abnormal size of the palpebral fissures", - "abnormality of respiratory system physiology", - "ectoderm-derived structure", - "Abnormal long bone morphology", - "systemic artery", - "abnormal size of head", - "manual digit 5 plus metapodial segment", - "structure with developmental contribution from neural crest", - "anatomical structure morphogenesis", - "orbital region", - "trachea", - "mouth", - "decreased size of the eyeball of camera-type eye", - "Abnormality of the digestive system", - "abnormal cornea, curved", - "abnormal tracheobronchial tree morphology", - "proximo-distal subdivision of respiratory tract", - "chordate embryonic development", - "Short long bone", - "immaterial anatomical entity", - "endochondral element", - "abnormal amniotic fluid", - "Abnormality of the head", - "phenotype", - "anus", - "abnormal digit morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal forebrain morphology", - "erythroid lineage cell", - "pulmonary valve", - "flat bone", - "hematopoietic system", - "Abnormality of body weight", - "subdivision of tube", - "skin of body", - "multi-tissue structure", - "abnormal biological_process", - "abnormal pigmentation", - "lower respiratory tract", - "abnormality of renal system physiology", - "gray matter", - "abnormal ocular adnexa morphology", - "Abnormality of the eye", - "abnormal growth", - "respiratory system", - "changed biological_process rate in independent continuant", - "gamete", - "Neurodevelopmental delay", - "late embryo", - "abnormal external male genitalia", - "digestive tract", - "abnormal ureter", - "abnormal palpebral fissure", - "Abnormality of the male genitalia", - "gland", - "abnormal cardiac atrium morphology in the heart", - "abnormal postcranial axial skeleton morphology", - "abnormal systemic arterial system morphology", - "abnormal shape of continuant", - "neurocranium bone", - "pelvic girdle bone/zone", - "Abnormal peripheral nerve morphology by anatomical site", - "lower limb segment", - "limb endochondral element", - "zeugopod", - "abnormal esophagus morphology", - "behavior", - "anatomical conduit", - "bone element hypoplasia in face", - "blood vasculature", - "cornea", - "increased pigmentation", - "abnormal hematopoietic system", - "anatomical collection", - "embryo development ending in birth or egg hatching", - "subdivision of organism along main body axis", - "glans penis", - "abnormal respiratory system morphology", - "subdivision of trunk", - "abnormally decreased number of anatomical entity in the blood", - "Abnormal morphology of female internal genitalia", - "curvature anatomical entity in independent continuant", - "Phenotypic abnormality", - "heart right ventricle", - "cellular organisms", - "Abnormality of the testis size", - "increased length of the anatomical entity", - "shape anatomical entity in independent continuant", - "Absent testis", - "system", - "Aplasia/Hypoplasia involving bones of the skull", - "abnormal digestive system", - "subdivision of digestive tract", - "abnormal heart morphology", - "tube development", - "heart left ventricle", - "aplasia or hypoplasia of manual digit", - "Neoplasm by anatomical site", - "tube", - "mandible", - "zeugopodial skeleton", - "pedal digit digitopodial skeleton", - "abnormal anatomical entity", - "abnormal limb bone", - "abnormal blood vessel morphology", - "non-material anatomical boundary", - "leg bone", - "Abnormality of digestive system morphology", - "abnormal head bone morphology", - "abnormal leg", - "abnormal artery morphology", - "musculoskeletal movement", - "digit 1 or 5", - "Intellectual disability", - "abnormal vestibulo-ocular reflex", - "Decreased anatomical entity mass", - "abnormal small intestine", - "abnormal penis", - "Abnormal cell morphology", - "thoracic cavity element", - "abnormal phenotype by ontology source", - "multicellular anatomical structure", - "increased biological_process in independent continuant", - "manual digitopodium bone", - "abnormal skeletal system morphology", - "abnormally protruding anatomical entity", - "absent sperm in the independent continuant", - "occurrent", - "clavate digit", - "endocrine gland", - "abnormal incomplete closing of the interventricular septum", - "Abnormal bone ossification", - "Abnormal tracheobronchial morphology", - "Abnormal tracheal morphology", - "abnormal alimentary part of gastrointestinal system", - "tube formation", - "ulna endochondral element", - "autopod region", - "compound organ", - "nose", - "Abnormality of the genitourinary system", - "deviation of manual digit", - "3-D shape anatomical entity in independent continuant", - "digestive system element", - "ear", - "aplasia or hypoplasia of iris", - "Abnormality of the ocular adnexa", - "vessel", - "forelimb long bone", - "cell", - "Spinal dysraphism", - "phenotype by ontology source", - "Abnormality of enteric nervous system morphology", - "gamete generation", - "shape palpebral fissure", - "tissue development", - "Localized skin lesion", - "hemolymphoid system", - "material anatomical entity", - "Short forearm", - "Abnormality of cardiovascular system morphology", - "Hematological neoplasm", - "abnormally fused digit and digit", - "external genitalia", - "abnormal roof of mouth morphology", - "abnormal lens of camera-type eye morphology", - "abnormal face", - "vertebral element", - "Myelodysplasia", - "mesoderm-derived structure", - "increased size of the brain ventricle", - "Anemia of inadequate production", - "multicellular organism", - ], - "has_phenotype_count": 106, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0013248", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group O", - "full_name": None, - "deprecated": None, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.", - "xref": ["DOID:0111096", "GARD:15656", "OMIM:613390", "UMLS:C3150653"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": [ - "FANCO", - "Fanconi Anemia, complementation group type O", - "Fanconi anaemia caused by mutation in RAD51C", - "Fanconi anaemia caused by mutation in Rad51C", - "Fanconi anaemia complementation group type O", - "Fanconi anemia caused by mutation in RAD51C", - "Fanconi anemia caused by mutation in Rad51C", - "Fanconi anemia complementation group type O", - "Fanconi anemia, complementation group O", - "RAD51C Fanconi anaemia", - "RAD51C Fanconi anemia", - "Rad51C Fanconi anaemia", - "Rad51C Fanconi anemia", - ], - "uri": None, - "iri": None, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0040012", - "HP:0000107", - "HP:0001245", - "HP:0025023", - "HP:0002984", - "HP:0009777", - "HP:0000126", - "HP:0000028", - "HP:0009778", - "HP:0009623", - "HP:0001627", - "HP:0003241", - "HP:0004322", - "HP:0002023", - "HP:0003774", - ], - "has_phenotype_label": [ - "Chromosome breakage", - "Renal cyst", - "Small thenar eminence", - "Rectal atresia", - "Hypoplasia of the radius", - "Absent thumb", - "Hydronephrosis", - "Cryptorchidism", - "Short thumb", - "Proximal placement of thumb", - "Abnormal heart morphology", - "External genital hypoplasia", - "Short stature", - "Anal atresia", - "Stage 5 chronic kidney disease", - ], - "has_phenotype_closure": [ - "UPHENO:0086132", - "UPHENO:0002411", - "UPHENO:0002442", - "UBERON:0004121", - "UBERON:0000161", - "UPHENO:0086644", - "UPHENO:0080351", - "HP:0001507", - "GO:0040007", - "UPHENO:0075159", - "HP:0001510", - "UPHENO:0080352", - "UPHENO:0081424", - "HP:0003241", - "UBERON:0010314", - "UBERON:0007100", - "UBERON:0005178", - "UPHENO:0076776", - "UPHENO:0080362", - "UBERON:0015228", - "UBERON:0002075", - "UPHENO:0076810", - "HP:0030680", - "HP:0001626", - "UPHENO:0084834", - "HP:0004097", - "UPHENO:0084829", - "UPHENO:0084841", - "HP:0009381", - "HP:0011927", - "UPHENO:0046624", - "UPHENO:0046411", - "UPHENO:0081755", - "UPHENO:0080382", - "GO:0007276", - "UPHENO:0053580", - "UPHENO:0050108", - "UPHENO:0002595", - "UPHENO:0082875", - "UPHENO:0049985", - "HP:0000811", - "UBERON:0004053", - "UPHENO:0049970", - "UBERON:0000473", - "CL:0000039", - "CL:0000413", - "UBERON:0000990", - "UPHENO:0086023", - "HP:0012243", - "UPHENO:0049367", - "HP:0003774", - "UPHENO:0085875", - "CL:0000015", - "UBERON:0003101", - "GO:0032502", - "GO:0022414", - "GO:0000003", - "UPHENO:0002598", - "UBERON:0005156", - "GO:0032504", - "UPHENO:0050101", - "UPHENO:0000541", - "UPHENO:0003055", - "UPHENO:0005016", - "UPHENO:0078729", - "UPHENO:0021561", - "CL:0000586", - "GO:0019953", - "HP:0009484", - "GO:0003006", - "GO:0048609", - "HP:0000025", - "UPHENO:0085194", - "UPHENO:0002371", - "HP:0009603", - "HP:0012874", - "UBERON:0003133", - "HP:0011961", - "UBERON:0004175", - "CL:0000300", - "UBERON:0000079", - "UPHENO:0002597", - "UPHENO:0049701", - "UPHENO:0011498", - "UPHENO:0086682", - "UPHENO:0053298", - "UPHENO:0077426", - "HP:0011425", - "UPHENO:0086128", - "GO:0006139", - "HP:0010944", - "UPHENO:0087973", - "UPHENO:0088186", - "UBERON:0000025", - "UPHENO:0001072", - "HP:0034242", - "UBERON:0000323", - "UPHENO:0001478", - "UPHENO:0065599", - "UBERON:5002544", - "UPHENO:0008668", - "HP:0001167", - "UBERON:5001463", - "UPHENO:0081790", - "HP:0009777", - "HP:0002589", - "UPHENO:0080099", - "UBERON:0001224", - "UPHENO:0080325", - "UBERON:0012354", - "UBERON:0004381", - "UBERON:0012140", - "UBERON:0001463", - "UBERON:0004481", - "UPHENO:0026183", - "UBERON:0011676", - "UPHENO:0084766", - "UPHENO:0001002", - "HP:0034058", - "HP:0001172", - "HP:0001446", - "UPHENO:0006910", - "UBERON:0001968", - "UPHENO:0081451", - "UPHENO:0086956", - "UBERON:5002389", - "UPHENO:0076724", - "UPHENO:0026028", - "HP:0033127", - "UPHENO:0087349", - "HP:0009824", - "HP:0045060", - "UBERON:0003460", - "UBERON:0003607", - "UPHENO:0046505", - "UPHENO:0080377", - "UPHENO:0085874", - "UBERON:0002495", - "HP:0011277", - "UBERON:0010740", - "HP:0009115", - "UPHENO:0076735", - "UBERON:0010363", - "UPHENO:0076740", - "UPHENO:0078452", - "UBERON:0003466", - "NCBITaxon:33208", - "UPHENO:0075893", - "UBERON:0010741", - "UBERON:0008962", - "UPHENO:0050021", - "UPHENO:0002964", - "UBERON:0002544", - "UBERON:0015001", - "HP:0011844", - "UPHENO:0002714", - "UBERON:0010912", - "HP:0000924", - "UBERON:0004176", - "UBERON:0002428", - "UPHENO:0046538", - "GO:0006259", - "OBI:0100026", - "HP:0009826", - "HP:0040068", - "GO:0010468", - "HP:0010461", - "HP:0004378", - "HP:0000002", - "HP:0011842", - "HP:0000032", - "UBERON:0004288", - "UBERON:0000160", - "UBERON:0004120", - "UPHENO:0020041", - "UPHENO:0002751", - "UBERON:0002204", - "HP:0040072", - "UBERON:0002091", - "UBERON:0019231", - "GO:0031323", - "UBERON:0011249", - "UBERON:0010703", - "UBERON:0002113", - "UBERON:0015021", - "UBERON:0007272", - "UPHENO:0079876", - "UBERON:0034923", - "GO:0008150", - "UBERON:0015061", - "UBERON:0034925", - "UPHENO:0081313", - "HP:0003026", - "HP:0002973", - "UPHENO:0080114", - "HP:0000077", - "UBERON:0001474", - "UBERON:0000948", - "UBERON:0000991", - "GO:0048519", - "UBERON:0034929", - "HP:0040070", - "HP:0012211", - "HP:0001227", - "HP:0006503", - "UBERON:0002386", - "HP:0009778", - "HP:0000812", - "HP:0002984", - "UPHENO:0086633", - "UPHENO:0087510", - "HP:0002664", - "UPHENO:0080187", - "UPHENO:0087501", - "GO:0007283", - "UBERON:0001353", - "UBERON:0000075", - "HP:0034057", - "HP:0002242", - "HP:0010945", - "UPHENO:0053644", - "HP:0009601", - "HP:0005773", - "UBERON:0006866", - "UBERON:0001442", - "UBERON:0001052", - "UPHENO:0063565", - "HP:0011793", - "UPHENO:0046540", - "UBERON:0013765", - "UBERON:0005409", - "UPHENO:0074228", - "HP:0002034", - "UPHENO:0046707", - "UPHENO:0026506", - "UBERON:0001555", - "UPHENO:0076803", - "NCBITaxon:33154", - "UBERON:0014793", - "NCBITaxon:131567", - "UPHENO:0049940", - "UPHENO:0008523", - "NCBITaxon:1", - "HP:0025033", - "UPHENO:0076773", - "HP:0009380", - "HP:0008669", - "UBERON:0000059", - "UBERON:0001007", - "UBERON:0000064", - "HP:0002023", - "UBERON:0005181", - "UPHENO:0080369", - "HP:0011100", - "UBERON:0010707", - "UPHENO:0002833", - "HP:0011024", - "NCBITaxon:6072", - "UBERON:0001062", - "UPHENO:0084124", - "CL:0000408", - "UBERON:0013522", - "HP:0010935", - "UBERON:0002398", - "UBERON:0000922", - "UPHENO:0081091", - "UBERON:0015410", - "HP:0025023", - "UBERON:0011584", - "HP:0004322", - "HP:0001627", - "GO:0010629", - "GO:0006807", - "GO:0044238", - "UBERON:0000383", - "UPHENO:0015280", - "UPHENO:0002649", - "UBERON:0000915", - "UBERON:0012361", - "HP:0001245", - "UBERON:0019221", - "BFO:0000020", - "UBERON:0007269", - "UBERON:0004765", - "GO:0006725", - "UPHENO:0002816", - "UBERON:0005177", - "UBERON:0002529", - "UPHENO:0069294", - "UBERON:0001630", - "HP:0000080", - "PR:000050567", - "HP:0040064", - "UPHENO:0002905", - "UBERON:0004480", - "UPHENO:0063639", - "UPHENO:0084448", - "UPHENO:0009382", - "GO:0071704", - "UPHENO:0084763", - "UBERON:0012139", - "UBERON:0005090", - "UPHENO:0049587", - "UBERON:0002470", - "GO:0032501", - "HP:0000126", - "UBERON:0005451", - "HP:0009623", - "UPHENO:0002655", - "UBERON:0002389", - "UBERON:0006717", - "UPHENO:0002708", - "UPHENO:0000543", - "UPHENO:0076718", - "UBERON:0002471", - "UPHENO:0050116", - "UBERON:0003103", - "UPHENO:0068971", - "GO:0031049", - "UBERON:0003135", - "UBERON:0008878", - "HP:0002817", - "UPHENO:0081423", - "UBERON:0010712", - "UPHENO:0084771", - "UBERON:0017716", - "UPHENO:0076692", - "UPHENO:0069254", - "UBERON:0008785", - "UBERON:0004710", - "HP:0000107", - "UPHENO:0002786", - "UPHENO:0076710", - "UPHENO:0002830", - "UPHENO:0076723", - "CL:0000000", - "UBERON:0007271", - "HP:0034915", - "UBERON:0010538", - "UPHENO:0005651", - "UBERON:0002102", - "UPHENO:0086635", - "UPHENO:0018390", - "UBERON:0010708", - "HP:0001155", - "UPHENO:0088142", - "UBERON:0003606", - "UPHENO:0087006", - "HP:0006265", - "HP:0000079", - "RO:0002577", - "HP:0005922", - "UPHENO:0078606", - "UPHENO:0002896", - "UPHENO:0085873", - "UPHENO:0002647", - "HP:0009815", + "HP:0200005", + "UPHENO:0065599", + "HP:0000252", + "HP:0003272", + "UBERON:0002472", + "HP:0002977", + "UPHENO:0080200", + "HP:0100886", + "UPHENO:0020888", + "UBERON:0001893", + "UPHENO:0087518", "UPHENO:0075195", - "UBERON:0010758", - "BFO:0000040", - "UBERON:0001245", - "UPHENO:0081341", - "UPHENO:0087346", - "HP:0000028", - "UBERON:0015212", - "GO:0031052", - "UBERON:0013702", - "UBERON:0002101", - "HP:0000078", - "GO:0006325", - "UPHENO:0002839", - "UBERON:0009569", - "UBERON:0013701", - "UBERON:0011143", - "UBERON:0001009", - "UPHENO:0002832", - "HP:0010946", - "HP:0012210", - "UBERON:0004054", - "UPHENO:0086700", - "UBERON:0004375", - "GO:0005623", - "GO:0009889", - "UPHENO:0031839", - "GO:0071824", - "UPHENO:0002642", - 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"GO:0016043", - "HP:0025031", - "HP:0012718", - "UPHENO:0002378", - "UPHENO:0005597", - "HP:0003011", - "UPHENO:0020950", - "UBERON:0008837", - "UBERON:0000153", - "UPHENO:0084761", - "UPHENO:0052178", - "NCBITaxon:2759", - "UBERON:0000468", - "UBERON:0004907", - "UPHENO:0087802", - "UBERON:0000489", - "HP:0001197", - "HP:0002818", - "HP:0002250", + "HP:0000818", + "UPHENO:0084767", "UBERON:0000916", - "UBERON:0010000", - "HP:0001939", - "UBERON:0004489", + "UBERON:0002417", + "NBO:0000417", + "HP:0000924", + "UPHENO:0074572", + "UBERON:0006925", + "UBERON:0002368", + "CL:0000408", + "UBERON:0005173", + "HP:0002624", + "UBERON:0002530", + "UPHENO:0002844", + "UPHENO:0075995", + "UBERON:0004092", + "UBERON:0000466", + "UBERON:0008785", + "UBERON:0000015", + "UPHENO:0052675", + "HP:0000316", + "UPHENO:0042834", + "UPHENO:0072195", + "HP:0002814", + "UBERON:0006800", + "UPHENO:0049367", + "UPHENO:0052231", + "UPHENO:0081594", + "NCBITaxon:1", + "UPHENO:0021474", + "UPHENO:0087597", + "UBERON:0002114", + "UPHENO:0076748", + "UBERON:0012152", + "UPHENO:0078375", + "UBERON:0010696", + "NBO:0000444", + "UPHENO:0081344", + "UBERON:0000063", + "HP:0008056", + "UBERON:0007273", + "HP:0002270", + "UBERON:0015022", + "UPHENO:0086866", + "UBERON:0001445", + "HP:0011297", + "UBERON:0004248", + "GO:0043473", + "UBERON:0012142", + "UBERON:0010758", + "UBERON:0001890", + "UPHENO:0081091", + "HP:0010674", + "HP:0001217", + "UPHENO:0078125", + "UPHENO:0087369", + "UPHENO:0082444", + "HP:0001639", + "UPHENO:0002896", + "UPHENO:0076806", + "HP:0040072", + "UBERON:0004053", + "UBERON:0001441", + "UBERON:0015023", + "UPHENO:0081575", + "UBERON:0001711", + "UBERON:0003221", + "UPHENO:0002964", + "UPHENO:0088140", + "UBERON:0006314", + "UPHENO:0041821", + "HP:0100760", + "UBERON:0010709", + "UBERON:0005440", + "HP:0001882", + "UPHENO:0002905", + "UPHENO:0084654", + "UBERON:0001769", + "UBERON:5002544", + "UBERON:0000154", + "HP:0031653", "UBERON:0004122", - "HP:0000001", - "UPHENO:0076783", - "UPHENO:0075902", - "HP:0012732", - "UPHENO:0002725", - "GO:0050794", - "HP:0012622", - "UBERON:0011216", - "UPHENO:0063632", - "HP:0000083", - "GO:0031327", - "HP:0009127", - "UBERON:0000465", - "UPHENO:0087547", - "UPHENO:0012274", - "UBERON:0000062", - "UPHENO:0026181", - "BFO:0000003", - "HP:0005927", - "HP:0006496", - "UBERON:0002100", - "UPHENO:0050113", - "UPHENO:0001001", - "UPHENO:0049700", - "HP:0006501", - "GO:1901360", + "HP:0009826", + "UPHENO:0033616", + "HP:0001384", + "CL:0000763", + "UPHENO:0049586", + "UBERON:0010742", + "HP:0004349", + "HP:0040068", + "UBERON:0002470", + "UBERON:0012139", + "HP:0001824", + "UBERON:0004709", + "UPHENO:0033603", + "UBERON:0001466", + "UBERON:0000978", + "UPHENO:0087123", + "HP:0000077", + "UBERON:0002199", + "UBERON:0002137", + "UBERON:0011143", + "UBERON:0007842", + "UBERON:0002113", + "HP:0001199", + "UPHENO:0000996", + "UBERON:0005881", "UPHENO:0076779", - "UBERON:0004921", - "UBERON:5006048", - "UBERON:0001008", - "GO:0043933", - "GO:0010556", - "UPHENO:0081792", - "UPHENO:0087427", - "GO:0043170", - "UBERON:0012141", - "UPHENO:0080126", - "UBERON:0005172", - "GO:0046483", - "UBERON:0001440", - "GO:0034641", - "UBERON:0012475", - "UBERON:0000481", - "HP:0011314", - "UBERON:0005173", - "UPHENO:0049874", - "PATO:0000001", + "UBERON:0001846", + "UBERON:0002217", + "UBERON:0007375", + "UBERON:0034768", + "UPHENO:0081570", + "UPHENO:0076786", + "UBERON:0001703", + "UPHENO:0078215", + "UBERON:0002553", + "HP:0031816", + "UPHENO:0075843", + "HP:0000172", + "UBERON:0012240", + "UBERON:0001734", + "UBERON:0005944", + "UBERON:0000079", + "UBERON:0001716", + "UBERON:0004089", + "UPHENO:0088088", + "HP:0008678", + "HP:0012372", + "UBERON:0005179", + "UPHENO:0080221", + "HP:0001034", + "HP:0012210", + "UPHENO:0059829", + "UPHENO:0074575", + "HP:0000309", + "UPHENO:0082682", + "UBERON:0001359", + "UPHENO:0074584", + "UBERON:0000167", + "UBERON:0001442", + "UPHENO:0078736", + "HP:0031105", + "UBERON:0002416", + "HP:0008053", + "UPHENO:0022529", + "UPHENO:0054957", + "UPHENO:0084511", + "UPHENO:0066927", + "UBERON:0010000", + "UBERON:0010230", + "HP:0011121", + "UPHENO:0080601", "UPHENO:0086172", - "BFO:0000004", - "UPHENO:0052778", - "UPHENO:0079872", - "UBERON:0002417", - "HP:0025354", - "UPHENO:0049873", - "UPHENO:0049748", - "GO:0065007", - "UBERON:0001423", - "UPHENO:0086201", - "UBERON:0002513", - "UBERON:0000475", - "UBERON:0006058", - "GO:0006996", - "UBERON:0000477", - "UPHENO:0081433", - "HP:0001421", - "UPHENO:0081466", - "UPHENO:0076703", - "GO:0019222", - "UBERON:0001015", - "UPHENO:0001005", - "UPHENO:0086198", - "UBERON:0036295", - "UBERON:0005881", - "GO:0048232", - "UPHENO:0081204", - "HP:0011297", - "UPHENO:0075696", - "GO:0050789", - "UPHENO:0050121", - "HP:0000118", - "HP:0002813", - "UBERON:0000463", - "UPHENO:0001003", - "HP:0003220", - "UBERON:0000026", - "UPHENO:0050845", - "HP:0011017", - "GO:0071840", - "HP:0011805", - "GO:0044237", - "HP:0000035", - "GO:0031326", - "UBERON:0006048", - "UPHENO:0005433", - "BFO:0000002", - "GO:0008152", - "GO:0010605", - "UBERON:0001460", - "GO:0031324", - "UBERON:8450002", - "GO:0010558", - "UBERON:0004708", - "CL:0000019", - "HP:0009821", - "UPHENO:0012541", - "GO:0009892", - "BFO:0000015", - "UPHENO:0080079", - "UBERON:0011582", - "UPHENO:0063599", - "UPHENO:0087846", - "UBERON:0001434", - "UPHENO:0002536", - "GO:0009987", - "GO:0090304", - "UBERON:0004535", - "HP:0000119", - "UBERON:0004111", - "HP:0100871", - "UBERON:0000061", - "GO:0060255", - "UPHENO:0049990", - "BFO:0000001", - "UPHENO:0020584", - "UPHENO:0084132", - "UPHENO:0002880", - "UBERON:0000467", - "HP:0040012", - "GO:0048523", + "UPHENO:0074589", + "CL:0000225", + "UPHENO:0054970", + "UPHENO:0049940", + "UPHENO:0084761", + "UBERON:0002384", + "UBERON:0012141", + "CL:0000151", + "HP:0001510", + "HP:0001167", + "UPHENO:0085302", + "UPHENO:0080114", + "UPHENO:0084766", + "UPHENO:0080201", + "UBERON:0003101", + "HP:0001155", + "HP:0045060", + "HP:0008373", + "HP:0005927", + "UPHENO:0085371", + "UPHENO:0076723", + "UPHENO:0084653", + "UBERON:0005451", + "HP:0005922", + "UPHENO:0082671", + "UPHENO:0078179", + "HP:0011849", + "HP:0010469", + "UBERON:0008202", + "UPHENO:0082834", + "HP:0004209", + "UPHENO:0087203", + "UPHENO:0082835", + "UBERON:0002412", + "GO:0001503", + "HP:0011446", + "HP:0030084", + "HP:0000377", + "HP:0004097", + "UBERON:0012357", + "UPHENO:0084842", + "HP:0009824", + "UPHENO:0080369", + "UPHENO:0084829", + "HP:0000864", + "UPHENO:0086150", + "UPHENO:0076736", + "HP:0009179", + "UBERON:5003625", + "UBERON:0012180", + "UPHENO:0068971", + "UPHENO:0081790", + "HP:0200007", + "HP:0009821", + "UPHENO:0012274", + "UPHENO:0012541", + "UPHENO:0053580", + "HP:0040019", + "UPHENO:0069293", + "UBERON:0010425", + "UBERON:0007823", + "UPHENO:0001001", + "UPHENO:0087892", + "UPHENO:0060026", + "HP:0001367", + "HP:0000504", + "UPHENO:0002813", + "UPHENO:0087980", + "UBERON:0001457", + "UBERON:0008907", + "UPHENO:0079871", + "NBO:0000313", + "HP:0002827", + "UBERON:0000982", + "UBERON:0005913", + "UBERON:0001271", + "UBERON:0003828", + "UPHENO:0075945", + "UBERON:0003463", + "UPHENO:0086088", + "HP:0001903", + "UPHENO:0076767", + "UBERON:0001464", + "UBERON:0008114", + "UBERON:0007828", + "UBERON:0003840", + "UPHENO:0087974", + "UBERON:0004770", + "HP:0002644", + "UBERON:5002389", + "UPHENO:0087558", + "HP:0000271", + "UBERON:0005893", + "UBERON:0001712", + "UBERON:0001950", + "UBERON:0003826", + "UBERON:0016526", + "UPHENO:0010795", + "UBERON:0001805", + "HP:0002251", + "UBERON:0004121", + "HP:0000525", + "UPHENO:0088183", + "UPHENO:0020258", + "UPHENO:0087121", + "UBERON:0002410", ], "has_phenotype_closure_label": [ - "Abnormal renal physiology", - "Abnormality of the urinary system physiology", - "Stage 5 chronic kidney disease", - "Chronic kidney disease", - "non-functional anatomical entity", - "abnormal anus morphology", - "abnormal anus", - "anus", - "Abnormality of the anus", - "orifice", - "Abnormal anus morphology", - "abnormal size of multicellular organism", - "growth", - "decreased height of the anatomical entity", + "decreased biological_process in multicellular organism", + "decreased qualitatively pigmentation in independent continuant", + "Hypopigmentation of the skin", + "decreased qualitatively biological_process in independent continuant", + "decreased biological_process in skin of body", + "decreased biological_process in independent continuant", + "Thrombocytopenia", + "Abnormal platelet count", + "abnormally decreased number of platelet", + "abnormally decreased number of myeloid cell", + "abnormal blood cell", + "abnormal platelet", + "anucleate cell", + "secretory cell", + "obsolete cell", + "Abnormality of chromosome stability", + "Abnormal cellular physiology", "decreased size of the multicellular organism", - "abnormality of anatomical entity height", - "delayed growth", - "Growth delay", "Abnormality of body height", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "delayed biological_process", - "External genital hypoplasia", - "cardiovascular system", - "abnormal cardiovascular system morphology", - "circulatory organ", - "viscus", - "thoracic segment organ", - "thoracic segment of trunk", - "heart plus pericardium", - "Abnormality of cardiovascular system morphology", - "abnormal cardiovascular system", - "primary circulatory organ", - "structure with developmental contribution from neural crest", - "Deviation of finger", - "Deviation of the hand or of fingers of the hand", - "Short finger", - "decreased length of manual digit", - "decreased length of manual digit 1", - "Short digit", - "decreased length of digit", - "Abnormal reproductive system morphology", - "abnormality of kidney physiology", - "decreased biological_process", - "abnormality of male reproductive system physiology", - "semen", - "developmental process", - "reproduction", - "multicellular organismal process", - "Abnormal testis morphology", - "sexual reproduction", - "developmental process involved in reproduction", - "multicellular organismal reproductive process", - "abnormal reproductive process", - "decreased qualitatively developmental process", - "absent anatomical entity in the semen", - "Short thumb", - "germ line cell", - "gamete generation", - "changed developmental process rate", - "spermatogenesis", - "absent sperm", + "serotonin secreting cell", + "abnormal size of multicellular organism", + "erythrocyte differentiation", + "myeloid cell differentiation", + "hemopoiesis", + "cellular developmental process", + "abnormal erythroid lineage cell morphology", + "erythroid lineage cell", + "Sideroblastic anemia", + "Abnormal myeloid cell morphology", + "immune system process", + "cellular process", + "homeostatic process", + "abnormal myeloid cell morphology", + "erythrocyte", + "myeloid cell", + "blood cell", + "abnormal erythrocyte morphology", + "Pyridoxine-responsive sideroblastic anemia", + "erythrocyte homeostasis", + "homeostasis of number of cells", + "oxygen accumulating cell", + "Anemia of inadequate production", + "radius bone", + "Abnormal morphology of the radius", + "aplasia or hypoplasia of radius bone", + "abnormal radius bone morphology", + "Neurodevelopmental delay", + "abnormal size of palpebral fissure", + "decreased length of palpebral fissure", + "Abnormal size of the palpebral fissures", + "Abnormality of immune system physiology", + "abnormality of immune system physiology", "abnormally localised testis", - "abnormal multicellular organismal reproductive process", - "absent gamete", - "reproductive organ", - "organism substance", - "Functional abnormality of male internal genitalia", - "decreased spermatogenesis", - "abnormal male reproductive system", - "absent sperm in the semen", - "obsolete multicellular organism reproduction", - "Azoospermia", - "Abnormality of the male genitalia", - "ectoderm-derived structure", - "male gamete", - "abnormality of reproductive system physiology", - "abnormality of anatomical entity physiology", - "sperm", - "external genitalia", - "gonad", - "male organism", - "abnormal reproductive system morphology", - "abnormal male reproductive organ morphology", - "decreased qualitatively biological_process", - "Abnormal spermatogenesis", - "abnormal internal genitalia", - "external male genitalia", - "testis", - "Abnormality of the genital system", - "decreased qualitatively reproductive process", + "abnormally localised anatomical entity in independent continuant", "Cryptorchidism", - "abnormally localised anatomical entity", - "decreased developmental process", - "abnormal heart morphology", - "abnormal external genitalia", - "abnormal male reproductive system morphology", - "renal pelvis/ureter", - "Abnormal renal pelvis morphology", - "reproductive process", - "Small thenar eminence", - "Fetal anomaly", - "biological_process", - "protein-containing material entity", - "subdivision of skeleton", - "increased size of the anatomical entity in independent continuant", - "appendage musculature", + "ureter", + "Abnormal ureter morphology", + "Abnormality of the ureter", + "abnormal ureter morphology", + "Abnormal renal physiology", + "Hypopigmented skin patches", + "Abnormality of the urinary system physiology", + "abnormally decreased functionality of the gonad", + "Cleft palate", + "Craniofacial cleft", + "increased height of the anatomical entity", + "increased height of anatomical entity in independent continuant", + "High palate", + "Increased head circumference", + "increased size of the head", + "increased length of the epicanthal fold", + "upper eyelid", + "zone of skin", + "Epicanthus", + "skin of head", + "head or neck skin", + "abnormal skin of face morphology", + "skin of face", + "abnormal asymmetry of anatomical entity", + "abnormal shape of forehead", + "sloped anatomical entity", + "abnormal facial skeleton morphology", + "Hypoplastic facial bones", + "facial skeleton", + "facial bone", + "mandible", + "anatomical entity hypoplasia in face", + "bone of lower jaw", + "mandible hypoplasia", + "abnormal mandible morphology", + "Abnormal mandible morphology", + "lower jaw region", + "facial bone hypoplasia", + "decreased size of the mandible", + "bone element hypoplasia in face", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "decreased qualitatively sensory perception of mechanical stimulus", + "sloped forehead", + "sensory perception of mechanical stimulus", + "decreased sensory perception of sound", + "abnormal sensory perception of sound", + "Hearing abnormality", + "sensory perception of sound", + "decreased qualitatively sensory perception of sound", + "Abnormal conjugate eye movement", + "Strabismus", + "sensory perception of light stimulus", + "abnormal sensory perception of light stimulus", + "abnormal sensory perception", + "decreased qualitatively visual perception", + "visual perception", + "abnormally protruding eyeball of camera-type eye", + "cell development", + "abnormal size of eyeball of camera-type eye", + "Abnormality of globe size", + "Abnormality of eye movement", + "cranial nerve related reflex", + "Abnormal vestibulo-ocular reflex", + "Abnormal vestibular function", + "abnormality of ear physiology", + "abnormal eye movement", + "abnormal physiologic nystagmus", + "eye movement", + "abnormal vestibulo-ocular reflex", + "shape uterus", + "abnormal uterus", + "female organism", + "internal female genitalia", + "abnormal internal female genitalia morphology", + "Abnormality of the female genitalia", + "Aplasia/Hypoplasia of facial bones", + "bicornuate uterus", + "abnormal female reproductive system", + "oviduct", + "bicornuate anatomical entity", + "uterus", + "Abnormality of the uterus", + "abnormal anatomical entity morphology in the skeleton of manus", + "Abnormality of thumb phalanx", + "manual digitopodium bone", + "manual digit 1 phalanx", "digit 1", - "abnormally dilated anatomical entity", - "increased size of the anatomical entity", - "Proximal placement of thumb", - "abnormal renal pelvis", - "anterior region of body", - "renal pelvis", - "autopodial skeleton", - "cellular component organization or biogenesis", - "Phenotypic abnormality", - "abnormal digit morphology", - "Abnormal large intestine morphology", - "abnormally dilated renal pelvis", - "absent anatomical entity", - "abnormal cellular metabolic process", - "rectum", - "acropodium region", - "Finger aplasia", - "digitopodium region", - "skeleton", - "Absent thumb", - "Abnormal digit morphology", - "aplasia or hypoplasia of manual digit", - "autopodial extension", - "Abnormality of reproductive system physiology", - "digit plus metapodial segment", + "Abnormal finger phalanx morphology", + "manus bone", + "excretory tube", + "manual digit 1 phalanx endochondral element", + "abnormal incomplete closing of the secondary palate", + "phalanx of manus", + "manual digit 1 digitopodial skeleton", + "abnormal visual perception", + "abnormal phalanx of manus morphology", + "abnormal manual digit 1 morphology", + "Triphalangeal thumb", + "manual digit 1", + "abnormal female reproductive system morphology", + "digit 1 digitopodial skeleton", + "skeleton of manual acropodium", + "skeleton of manual digitopodium", + "Bicornuate uterus", + "abnormal behavior", + "body part movement", + "neuromuscular process", + "voluntary musculoskeletal movement", + "kinesthetic behavior", + "increased qualitatively response to stimulus", + "abnormal voluntary musculoskeletal movement", + "Hyperreflexia", + "reflex", + "Abnormality of movement", + "Recurrent urinary tract infections", + "involuntary movement behavior", + "multicellular organismal movement", + "abnormal response to external stimulus", + "decreased embryo development", + "abnormal embryo development", + "Abnormal umbilicus morphology", + "Hernia", + "Hernia of the abdominal wall", + "Abnormality of connective tissue", + "abnormal umbilicus morphology", + "abnormal incomplete closing of the abdominal wall", + "Abnormality of the abdominal wall", + "umbilicus", + "connective tissue", + "herniated anatomical entity", + "herniated abdominal wall", + "response to external stimulus", + "Abnormality of the amniotic fluid", + "abnormal amniotic fluid", + "Abnormality of prenatal development or birth", "Renal insufficiency", - "manual digitopodium region", - "Abnormal heart morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Forearm undergrowth", - "Aplasia/Hypoplasia of fingers", - "abnormal reproductive system", - "reproductive structure", - "male reproductive organ", - "Abnormal rectum morphology", - "manual digit 1 or 5", - "digit 1 or 5", - "absent manual digit", - "abnormal digit", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "aplastic anatomical entity", - "agenesis of anatomical entity", - "manual digit", - "rectum atresia", - "Abnormal fetal genitourinary system morphology", - "manual digit 1 plus metapodial segment", - "paired limb/fin skeleton", - "Abnormal appendicular skeleton morphology", - "radius bone hypoplasia", - "Aplasia/hypoplasia involving the skeleton", - "palmar/plantar part of autopod", - "Abnormality of male external genitalia", - "Short long bone", - "mesoderm-derived structure", - "phenotype", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "continuant", - "regulation of macromolecule metabolic process", - "aplastic manual digit 1", - "abnormal rectum", - "abnormal limb long bone morphology", - "endochondral element", - "abnormal cell", - "bone element", - "skeleton of limb", - "forelimb zeugopod skeleton", - "male reproductive system", - "limb bone", - "abnormal forelimb zeugopod bone", - "abnormal limb bone morphology", - "abnormal forelimb zeugopod morphology", - "abnormal limb bone", - "Aplasia/hypoplasia of the extremities", - "decreased length of forelimb zeugopod bone", - "Abnormal long bone morphology", - "skeleton of pectoral complex", - "abnormal cellular component organization", - "appendicular skeletal system", - "Aplasia/hypoplasia involving forearm bones", - "external soft tissue zone", - "Abnormal skeletal morphology", - "musculature of upper limb", - "anatomical collection", - "zeugopod", - "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "abnormal bone of pectoral complex morphology", - "aplasia or hypoplasia of skeleton", - "forelimb bone", - "limb long bone", - "trunk", - "digit 1 plus metapodial segment", - "radius endochondral element", - "Deviation of the thumb", - "skeletal element", + "late embryo", + "Oligohydramnios", + "amniotic fluid", + "interatrial septum", + "abnormal cardiac atrium morphology in the independent continuant", + "Abnormal atrial septum morphology", + "abnormal cardiac atrium morphology", + "abnormal interatrial septum morphology", + "Abnormal ventricular septum morphology", + "metabolic process", + "Abnormal cardiac septum morphology", + "increased size of the heart right ventricle", + "interventricular septum", + "abnormal hematopoietic cell morphology", + "Abnormal connection of the cardiac segments", + "abnormally increased volume of anatomical entity", + "Ventricular hypertrophy", + "abnormal pulmonary valve morphology", + "Global developmental delay", + "reflexive behavior", + "Right ventricular hypertrophy", + "cardiac septum", + "Abnormal pulmonary valve physiology", + "abnormality of cardiovascular system physiology", + "skin of eyelid", + "Aplasia/Hypoplasia of the mandible", + "abnormal size of heart right ventricle", + "abnormal cardiac septum morphology", + "hypertrophic cardiac ventricle", + "hypertrophic heart right ventricle", + "Abnormal myocardium morphology", + "layer of muscle tissue", + "abnormal myocardium morphology", + "heart layer", + "abnormal abdominal wall", + "embryonic cardiovascular system", + "heart vasculature", + "response to stimulus", + "ductus arteriosus", + "abnormal coronary vessel morphology", + "abnormal number of anatomical enitites of type myeloid cell", + "thoracic segment blood vessel", + "coronary vessel", + "Patent ductus arteriosus", + "decreased pigmentation in multicellular organism", + "Congenital malformation of the great arteries", + "aplasia or hypoplasia of mandible", + "trunk blood vessel", + "abnormal incomplete closing of the ductus arteriosus", + "vasculature of organ", + "abnormal female reproductive organ morphology", + "abnormally decreased functionality of the anatomical entity", + "vasculature of trunk", + "heart blood vessel", + "bone of jaw", + "aortic system", + "aorta", + "great vessel of heart", + "Abnormal aortic morphology", + "flattened anatomical entity", + "longitudinal arch of pes", + "flattened anatomical entity in independent continuant", + "shape longitudinal arch of pes", + "Pes planus", + "flat anatomical entity", + "abnormally fused anatomical entity and pedal digit", + "Toe syndactyly", + "manual digit 1 plus metapodial segment", + "abnormal cerebral hemisphere morphology", + "neurocranium bone", + "vault of skull", + "female reproductive system", + "dermal skeleton", + "primary subdivision of skull", + "primary subdivision of cranial skeletal system", + "gray matter", + "dermal bone", + "aplasia or hypoplasia of skull", + "frontal lobe", + "pallium", + "neurocranium", + "cranial bone", + "bone of craniocervical region", + "intramembranous bone", + "membrane bone", + "Hearing impairment", + "abnormal neurocranium morphology", + "abnormal head bone morphology", + "abnormal shape of frontal cortex", + "abnormality of internal ear physiology", + "abnormal tetrapod frontal bone morphology", + "abnormal vault of skull", + "Puberty and gonadal disorders", + "central nervous system cell part cluster", + "lobe of cerebral hemisphere", + "cerebral hemisphere", + "forehead", + "abnormal great vessel of heart morphology", + "frontal cortex", + "abnormal response to stimulus", + "embryo development ending in birth or egg hatching", + "Abnormal form of the vertebral bodies", + "outflow part of left ventricle", + "vertebral column", + "vertebra", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "Abnormal heart valve morphology", + "abnormal neural tube morphology", + "anatomical structure formation involved in morphogenesis", + "abnormal aortic valve morphology", + "tube formation", + "neural tube", + "presumptive structure", + "Abnormality of the inner ear", + "abnormal vertebral column morphology", + "face", + "aplasia or hypoplasia of manual digit", + "Abnormality of the vasculature", + "non-functional anatomical entity", + "Abnormal vertebral morphology", + "Vertebral arch anomaly", + "epithelium development", + "abnormal head", + "arterial system", + "Decreased bone element mass density", + "abnormal systemic arterial system morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal common carotid artery plus branches morphology", + "jaw region", + "artery", + "abnormal anatomical entity mass density", + "Spinal dysraphism", + "decreased qualitatively pigmentation", + "decreased multicellular organism mass", + "innominate bone", + "gray matter of forebrain", + "heart plus pericardium", + "Pulmonic stenosis", + "Abnormal peripheral nervous system morphology", + "Atypical behavior", "Abnormal upper limb bone morphology", - "digit", - "abdominal segment of trunk", - "Abnormality of the skeletal system", - "bone of free limb or fin", - "Abnormal morphology of the radius", - "arm bone", - "radius bone", - "obsolete cellular nitrogen compound metabolic process", - "Abnormality of prenatal development or birth", - "decreased length of anatomical entity in independent continuant", - "endochondral bone", - "upper urinary tract", - "skeletal system", - "internal genitalia", - "anatomical cluster", - "circulatory system", - "subdivision of skeletal system", - "Hypoplasia of the radius", - "decreased length of long bone", - "Limb undergrowth", - "abnormal developmental process", - "Abnormality of limb bone morphology", - "Abnormal forearm morphology", - "abnormal large intestine morphology", - "abnormal growth", - "increased size of the renal pelvis", - "organism", - "Short stature", - "Rectal atresia", - "Abnormality of limb bone", - "Neoplasm by anatomical site", - "Aplasia/hypoplasia involving bones of the hand", - "Morphological abnormality of the gastrointestinal tract", - "large intestine", - "Abnormal male reproductive system physiology", - "gamete", - "organ part", - "Abnormality of the digestive system", - "Abnormal skeletal muscle morphology", - "Abnormality of the gastrointestinal tract", - "anal region", - "Intestinal atresia", - "alimentary part of gastrointestinal system", - "Neoplasm", - "abnormal location of anatomical entity", - "Abnormality of the musculature of the upper limbs", - "abnormal digestive system", - "subdivision of digestive tract", - "decreased length of anatomical entity", - "abnormal digestive system morphology", - "abnormal external male genitalia", - "late embryo", - "digestive tract", - "material entity", - "abnormal closing of the anatomical entity", - "long bone", - "Abnormal internal genitalia", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Eukaryota", - "Abnormal finger morphology", - "abnormal manual digit 1 morphology", - "abnormal alimentary part of gastrointestinal system", - "Anal atresia", - "abnormal gamete", - "Fetal ultrasound soft marker", - "forelimb zeugopod bone hypoplasia", - "tube", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", - "Abnormality of the cardiovascular system", - "Abnormal cellular physiology", - "abnormal biological_process", - "multi-tissue structure", - "biological regulation", - "organ system subdivision", - "process", - "main body axis", - "aplasia or hypoplasia of radius bone", - "cellular organisms", - "absent anatomical entity in the independent continuant", - "subdivision of organism along appendicular axis", - "male gamete generation", - "zeugopodial skeleton", - "abnormal anatomical entity", - "paired limb/fin", - "Gastrointestinal atresia", - "Metazoa", - "pectoral appendage", - "thenar eminence", - "Short forearm", - "abnormal intestine morphology", + "chemosensory system", + "abnormally decreased number of anatomical entity", + "Abnormality of the orbital region", + "roof of mouth", + "paralysed cranial nerve", + "Abnormal cranial nerve physiology", "male germ cell", - "lateral structure", - "limb", - "paired limb/fin segment", - "Hydronephrosis", - "abnormal manus", - "Dilatation of the renal pelvis", - "abnormal manual digit morphology in the independent continuant", - "anatomical entity atresia", - "abnormal arm", - "Abnormality of the musculature of the hand", - "decreased size of the anatomical entity in the pectoral complex", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "root", - "haploid cell", - "Abnormal renal morphology", - "Abnormality of limbs", - "abnormal alimentary part of gastrointestinal system morphology", - "multi-limb segment region", - "disconnected anatomical group", - "thenar eminence hypoplasia", - "Abnormal intestine morphology", - "abnormal forelimb morphology", - "organ", - "protein-DNA complex organization", - "trunk region element", - "pectoral complex", - "abnormal thenar eminence", - "abnormal musculature of manus", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormality of the thenar eminence", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the hand", - "subdivision of organism along main body axis", - "abnormal muscle organ morphology", - "Non-obstructive azoospermia", - "absent anatomical entity in the multicellular organism", - "abnormal number of anatomical enitites of type cell", - "abnormal anatomical entity length", - "Abnormality of the musculoskeletal system", - "abnormal rectum morphology", - "abnormally localised anatomical entity in independent continuant", - "musculoskeletal system", - "decreased size of the anatomical entity", - "compound organ", - "autopod region", - "abnormal spatial pattern of anatomical entity", - "abnormal limb", - "Abnormal hand morphology", - "forelimb long bone", - "cell", - "phenotype by ontology source", - "abnormal manus morphology", - "abnormal cellular process", - "regulation of biosynthetic process", - "abnormal musculature of upper limb", - "pectoral appendage musculature", - "digestive system", - "musculature", - "forelimb skeleton", - "musculature of body", - "bone of appendage girdle complex", - "muscle organ", - "anatomical entity hypoplasia in independent continuant", - "digestive system element", - "non-functional kidney", - "abnormal size of anatomical entity", - "Opisthokonta", - "abnormal palmar part of manus morphology", - "abnormal late embryo", - "manual digit 1", - "Abnormality of the musculature of the limbs", - "manual digit plus metapodial segment", + "Aplasia/Hypoplasia of the uvula", + "Ocular anterior segment dysgenesis", + "decreased height of the multicellular organism", + "abnormal anatomical entity morphology in the pelvic complex", + "abnormal neocortex morphology", + "decreased biological_process", + "Eukaryota", + "Eumetazoa", + "Aplasia/Hypoplasia affecting the uvea", + "anterior uvea", + "vestibulo-auditory system", + "Abnormal right ventricle morphology", + "Clinodactyly", + "cranial neuron projection bundle", + "Abdominal wall defect", + "Almond-shaped palpebral fissure", + "Clubbing", + "head bone", + "shape digit", + "multi-tissue structure", + "bodily fluid", + "abnormal peripheral nervous system morphology", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "appendage girdle complex", + "subdivision of head", + "Abnormal calvaria morphology", + "abnormal skeletal system", + "Abnormal morphology of ulna", + "Aplasia/Hypoplasia of the iris", + "mouth", + "spinal cord", + "appendicular skeleton", "limb skeleton subdivision", - "musculature of limb", - "abnormal musculature of limb", - "negative regulation of macromolecule biosynthetic process", - "Abnormality of the genitourinary system", + "Abnormal cell morphology", + "Abnormal palate morphology", + "forelimb long bone", + "abnormal size of skull", + "limb segment", + "abnormally formed anatomical entity", + "absent sperm", + "skeletal system", + "curved anatomical entity in independent continuant", + "hindlimb skeleton", + "endochondral bone", + "subdivision of skeleton", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "Abnormality of the skeletal system", + "Overriding aorta", + "trachea", + "Deviation of finger", + "Abnormality of limbs", + "Abnormal platelet morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "ulna endochondral element", + "abnormal shape of cornea", + "abnormal forebrain morphology", + "abnormal limb long bone morphology", + "eukaryotic cell", + "abnormal zone of skin morphology", + "pedal digitopodium bone", + "neural tube formation", + "anatomical conduit", + "abnormally formed anterior chamber of eyeball", + "Anal atresia", + "postcranial axial skeletal system", + "Clubbing of toes", + "Abnormal uvea morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal forelimb zeugopod morphology", + "zeugopod", + "skeletal element", + "paired limb/fin", + "abnormal semi-lunar valve morphology", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "bone element", + "pectoral appendage", + "deviation of manual digit 5 towards the middle", + "abnormal digestive system morphology", + "septum", + "Abnormality of limb bone morphology", + "Abnormal forearm bone morphology", + "root", + "Abnormal forebrain morphology", + "developing anatomical structure", + "skeleton of limb", + "forelimb zeugopod skeleton", + "prepuce", + "subdivision of oviduct", + "limb bone", + "pectoral appendage skeleton", + "Abnormal blood vessel morphology", + "cardiovascular system", + "blood vasculature", + "tube development", + "acropodium region", + "blood vessel", "germ cell", - "abnormal spermatogenesis", - "segment of manus", - "musculature of pectoral complex", - "abnormal anatomical entity morphology in the independent continuant", - "multicellular organism", - "abnormality of renal system physiology", - "programmed DNA elimination by chromosome breakage", - "Anorectal anomaly", - "organism subdivision", - "thoracic cavity element", - "Abnormality of the kidney", + "outflow tract", + "Umbilical hernia", + "Arteriovenous malformation", + "abnormal connective tissue", + "Abnormal eye morphology", + "Abnormal long bone morphology", + "absent sperm in the semen", + "vasculature", + "embryonic morphogenesis", + "abnormal liver", + "decreased pigmentation in independent continuant", + "tissue development", + "venous blood vessel", + "abnormal vasculature", + "abnormal genitourinary system", + "abnormal musculoskeletal movement", + "changed developmental process rate", + "abnormal cardiovascular system", + "Abnormal reproductive system morphology", + "abnormal blood vessel morphology", + "abnormal parasympathetic nervous system morphology", + "abnormal embryo morphology", + "Abnormal venous morphology", + "Aplasia/Hypoplasia affecting the eye", + "Functional abnormality of male internal genitalia", + "vein", + "multi cell part structure", + "abnormal prepuce of penis morphology", + "myocardium", + "external ear", + "abnormal telencephalon morphology", + "Abnormality of the forehead", + "intromittent organ", + "organism", + "secondary palate", + "penis", + "Orofacial cleft", + "digestive system element", + "autopod bone", + "Neurodevelopmental abnormality", + "manual digit phalanx endochondral element", + "Abnormality of the immune system", + "abnormal skin of head morphology", + "abnormal neural tube closure", + "abnormal cardiovascular system morphology", + "Abnormality of mental function", + "nervous system process", + "Abnormal toe phalanx morphology", + "arch of centrum of vertebra", + "Metazoa", + "abnormal parasympathetic ganglion morphology", "abnormality of internal male genitalia physiology", - "abnormal gamete generation", - "cavitated compound organ", - "abnormal kidney", - "body proper", - "aplasia or hypoplasia of anatomical entity", + "decreased length of forelimb zeugopod bone", + "limb endochondral element", + "abnormal brain ventricle/choroid plexus morphology", + "Abnormal cerebral ventricle morphology", + "structure with developmental contribution from neural crest", + "abnormal nervous system morphology", + "abnormal central nervous system morphology", + "Abnormal preputium morphology", + "Neural tube defect", + "organ system subdivision", + "Aplasia/Hypoplasia involving bones of the skull", + "tissue morphogenesis", + "abnormal brain ventricle morphology", + "skeletal joint", + "Abnormal cardiovascular system physiology", + "Abnormal cerebrospinal fluid morphology", + "forelimb bone", + "Abnormal uvula morphology", + "abnormally increased number of anatomical entity", + "ventricular system of central nervous system", + "Abnormal shape of the frontal region", + "central nervous system", + "abnormal arm", + "Abnormality of limb bone", + "autopod endochondral element", + "cognition", + "ventricular system of brain", + "shape anatomical entity", + "anatomical entity hypoplasia in independent continuant", + "Facial asymmetry", + "Abnormal leukocyte count", + "anatomical entity dysfunction in independent continuant", + "abnormal brain morphology", + "abnormal heart layer morphology", + "Abnormal frontal bone morphology", + "Abnormality of lower limb joint", + "Recurrent infections", + "Morphological central nervous system abnormality", + "organ component layer", + "Hydrocephalus", "forelimb zeugopod bone", - "quality", - "abdomen element", - "subdivision of trunk", - "genitourinary system", - "negative regulation of cellular biosynthetic process", - "anatomical system", - "palmar part of manus", - "abnormal anatomical entity morphology in the palmar part of manus", - "Aplasia/hypoplasia involving bones of the extremities", - "alimentary part of gastrointestinal system atresia", - "abnormal genitourinary system", - "Renal cyst", - "Abnormal forearm bone morphology", - "regulation of cellular metabolic process", - "regulation of biological process", - "Abnormal thumb morphology", - "arm", - "abnormal limb morphology", - "bone element hypoplasia in independent continuant", - "abnormal anatomical entity morphology", - "primary metabolic process", - "cellular component organization", - "abnormal kidney morphology", - "system", - "negative regulation of macromolecule metabolic process", - "organic substance metabolic process", - "abnormal DNA metabolic process", - "abnormal chromatin organization", - "forelimb", + "abnormal anus morphology", + "abnormally increased number of brain ventricle in the independent continuant", + "cerebrospinal fluid", + "abnormal nervous system", + "abnormally fused pedal digit and pedal digit", + "future central nervous system", + "nervous system development", + "abnormal manual digit morphology in the manus", + "material anatomical entity", + "abnormal internal naris", + "Cranial nerve paralysis", + "developmental process", + "abnormal ureter", + "absent anatomical entity in the independent continuant", + "manual digit 1 or 5", + "abdominal segment bone", + "abnormal forelimb morphology", + "abnormal autonomic nervous system", + "abnormal cornea, asymmetrically curved", + "Abnormal cellular immune system morphology", + "Abnormality of male external genitalia", + "abnormal forehead", + "abnormal voluntary movement behavior", + "tissue", + "abnormal behavior process", + "abnormal axial skeleton plus cranial skeleton morphology", + "absent anatomical entity in the semen", + "subdivision of organism along appendicular axis", + "Abnormal male reproductive system physiology", + "abnormal cerebrospinal fluid morphology", + "zeugopodial skeleton", + "Small intestinal stenosis", + "male gamete generation", + "sexual reproduction", + "abnormal synovial joint of pelvic girdle morphology", "embryo", - "appendage", - "musculature of manus", - "material anatomical entity", - "anus atresia", - "abdomen", - "changed biological_process rate", - "abnormal metabolic process", - "abnormal renal pelvis morphology", - "chromatin organization", - "abnormal renal system", - "abnormal musculature", - "abnormal appendicular skeleton morphology", - "Eumetazoa", - "segment of autopod", - "negative regulation of metabolic process", - "nucleobase-containing compound metabolic process", - "abnormal skeletal system morphology", - "obsolete cell", - "deviation of anatomical entity", - "absent sperm in the independent continuant", + "Absent testis", + "exocrine system", + "Abnormality of the genitourinary system", + "Abnormality of the outer ear", + "abnormal gamete", + "quality", + "phenotype by ontology source", + "Abnormality of the male genitalia", + "Abnormality of blood and blood-forming tissues", + "abnormality of multicellular organism height", + "abnormal limb morphology", + "upper urinary tract", + "right cardiac chamber", + "manual digitopodium region", + "abnormal enteric nervous system morphology", + "anterior region of body", + "Abnormality of the upper limb", + "entity", + "Decreased anatomical entity mass", + "anatomical system", + "upper digestive tract", + "dorsum", + "cranial nerve", + "testis", + "reproductive structure", + "abnormal ulna morphology", + "gonad", + "Decreased anatomical entity mass density", + "ganglion", + "abnormal shape of external ear", + "opaque lens of camera-type eye", + "epithelial tube", + "Finger clinodactyly", + "iris", + "absent gamete", + "naris", + "mesoderm-derived structure", + "abnormal male reproductive system morphology", + "Abnormality of the gastrointestinal tract", "internal male genitalia", + "digestive system", + "curved anatomical entity", + "decreased length of long bone", + "material entity", + "increased reflex", + "long bone", + "system development", + "abnormal multicellular organismal reproductive process", + "abnormal anatomical entity, asymmetrically curved", + "manual digit", + "abnormal reproductive process", + "abnormal shape of continuant", + "system process", + "male gamete", + "cell differentiation", + "abnormal cerebral cortex morphology", + "abnormal arch of centrum of vertebra", + "bone of appendage girdle complex", + "anatomical wall", + "abnormality of anatomical entity height", + "abnormal heart right ventricle morphology", + "neural crest-derived structure", + "epithelial tube formation", + "asymmetrically curved cornea", + "hindlimb", + "continuant", + "Intrauterine growth retardation", + "abnormal cornea morphology", + "entire sense organ system", + "lower urinary tract", + "Abnormality of globe location", + "Tracheoesophageal fistula", + "Abnormal cardiac atrium morphology", + "Neoplasm", + "Abnormal intestine morphology", + "organ", + "pedal digit plus metapodial segment", "occurrent", - "regulation of cellular process", - "regulation of gene expression", - "intestine atresia", - "abnormal nitrogen compound metabolic process", - "appendage girdle complex", - "abnormal anatomical entity topology in independent continuant", - "limb segment", - "cellular process", - "forelimb zeugopod", - "cellular metabolic process", - "abnormal skeletal system", - "Abnormal fetal morphology", - "macromolecule metabolic process", - "bone of pectoral complex", - "abnormal upper urinary tract", - "specifically dependent continuant", - "subdivision of tube", - "regulation of metabolic process", - "organic cyclic compound metabolic process", - "obsolete cellular aromatic compound metabolic process", - "abnormal anatomical entity morphology in the manus", - "kidney", - "absent anatomical entity in the forelimb", - "appendicular skeleton", + "abnormal male reproductive organ morphology", + "pedal digit phalanx endochondral element", + "integumental system", + "semen", + "abnormality of anatomical entity physiology", + "multicellular organismal reproductive process", + "Abnormality of the head", + "heart", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "sensory system", + "absent sperm in the independent continuant", + "pelvic region element", + "abnormal systemic artery morphology", + "male organism", + "abnormal hindlimb joint", + "reproduction", + "vessel", + "lateral structure", + "Microphthalmia", + "absent anatomical entity in the multicellular organism", + "Abnormal nasal morphology", + "postcranial axial skeleton", + "abnormal vein morphology", + "abnormal external ear morphology", + "decreased qualitatively developmental process", + "camera-type eye", "All", - "pectoral appendage skeleton", + "Abnormal bone structure", + "male reproductive organ", + "abnormal blood cell morphology", + "abnormal cell", + "disconnected anatomical group", + "upper limb segment", + "biological_process", + "Aplasia/Hypoplasia affecting the anterior segment of the eye", + "Abnormality of the genital system", + "Abnormal facial shape", + "tube morphogenesis", + "leukocyte", + "delayed biological_process", + "systemic artery", + "organism substance", + "Abnormal heart valve physiology", + "changed biological_process rate", + "absent germ cell", + "Abnormal erythroid lineage cell morphology", + "abnormal peripheral nervous system", + "ear", + "transudate", + "Abnormal joint morphology", + "forelimb endochondral element", + "abnormal duodenum morphology", + "abnormal leukocyte morphology", + "Abnormal respiratory system physiology", + "multicellular organismal process", + "bone of pelvic complex", + "organ part", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormal hip joint morphology", + "neuron projection bundle", + "Abnormal spinal cord morphology", + "external male genitalia", + "abnormality of cranial nerve physiology", + "abnormal pigmentation", + "independent continuant", + "anatomical line between pupils", + "abnormal number of anatomical enitites of type anatomical entity", + "forelimb skeleton", + "immune system", + "endocrine system", + "decreased qualitatively reproductive process", + "gamete generation", + "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Abnormal ganglion morphology", + "hepatobiliary system", + "subdivision of skeletal system", + "Abnormal external genitalia", + "pulmonary valve", + "cellular organisms", + "vertebral element", + "viscus", + "bone of free limb or fin", + "abnormal pedal digit morphology", + "abnormal ear", + "Abnormality of reproductive system physiology", + "abnormal size of head", + "abnormal external genitalia", + "radius endochondral element", + "Abnormal renal morphology", + "abnormal gamete generation", + "Abnormality of the curvature of the cornea", + "cell", + "abnormal interventricular septum morphology", + "Abnormality of the mouth", + "abnormal ductus arteriosus morphology", + "Finger syndactyly", + "limb", + "respiratory system", + "hip joint", + "abnormal ear morphology", + "abnormal number of anatomical enitites of type sperm", + "Abnormality of the cardiovascular system", + "dorsal region element", + "abnormal opening of the anatomical entity", + "Abnormal systemic arterial morphology", + "multicellular anatomical structure", + "hematopoietic system", + "spermatogenesis", + "abnormal shape of palpebral fissure", + "abnormal cardiac atrium morphology in the heart", + "morphogenesis of embryonic epithelium", + "haploid cell", + "conceptus", + "abnormal vertebra morphology", + "internal genitalia", + "aplasia or hypoplasia of iris", + "Abnormality of skin pigmentation", + "abnormality of respiratory system physiology", + "prepuce of penis", + "concave 3-D shape anatomical entity", + "abnormal heart left ventricle morphology", + "leg bone", + "abnormal tracheobronchial tree morphology", + "abnormal external male genitalia", + "abnormal anatomical entity morphology in the brain", + "Abnormal ear morphology", + "abnormal craniocervical region", + "manual digit digitopodial skeleton", + "flat anatomical entity in independent continuant", + "cardiac ventricle", + "abnormal internal genitalia", + "ocular surface region", + "platelet", + "Growth abnormality", + "hip", + "primary neural tube formation", + "renal pelvis/ureter", + "male urethral meatus", + "reproductive organ", + "anus atresia", + "abnormal skull morphology", + "Short long bone", + "abnormality of nervous system physiology", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "abnormal aorta morphology", + "increased pigmentation in skin of body", + "Abnormality of the testis size", + "hip dislocation", "Abnormal cellular phenotype", - "abnormal number of anatomical enitites of type sperm", - "Abnormality of the musculature", - "abnormal manual digit morphology in the manus", + "neural tube development", + "external genitalia", + "Hypertrophic cardiomyopathy", + "abnormal number of anatomical enitites of type cell", + "abnormal limb bone morphology", + "tunica fibrosa of eyeball", + "Abnormal appendicular skeleton morphology", "abnormal anatomical entity morphology in the pectoral complex", - "nucleic acid metabolic process", - "decreased size of the anatomical entity in the independent continuant", - "metabolic process", - "decreased size of the radius bone", - "abnormal phenotype by ontology source", - "negative regulation of cellular metabolic process", - "abnormal long bone morphology", - "entity", - "deviation of manual digit 1", - "internal anal region", - "protein-containing complex organization", - "Chromosome breakage", "Abnormality of the urinary system", - "anatomical structure", + "abnormality of reproductive system physiology", + "abnormally localised anatomical entity", + "abnormal anatomical entity morphology in the skeleton of pelvic complex", + "Abnormal heart morphology", + "Proptosis", + "changed embryo development rate", + "hindlimb stylopod", + "Abnormal esophagus morphology", + "Anemia", + "morphological feature", "Abnormality of metabolism/homeostasis", - "intestine", - "abnormal programmed DNA elimination by chromosome breakage", - "lower digestive tract", - "renal system", - "Upper limb undergrowth", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "anatomical conduit", - "deviation of manual digit", - "obsolete nitrogen compound metabolic process", - "Abnormality of the upper urinary tract", - "regulation of cellular biosynthetic process", - "independent continuant", - "abnormal organelle organization", - "excretory system", - "negative regulation of cellular process", - "anatomical entity hypoplasia", - "terminal part of digestive tract", - "Growth abnormality", - "abnormal renal system morphology", - "abnormal developmental process involved in reproduction", - "Abnormal external genitalia", - "muscle structure", - "programmed DNA elimination", - "heart", - "upper limb segment", - "limb endochondral element", - "anatomical entity", - "Abnormal palm morphology", - "abnormal autopod region morphology", - "absent germ cell", - "forelimb endochondral element", - "DNA metabolic process", - "manus", - "abnormal primary metabolic process", - "reproductive system", + "forelimb zeugopod", "abnormal testis morphology", - "Fetal pyelectasis", - "negative regulation of biosynthetic process", - "absent digit", - "abdominal segment element", - "obsolete heterocycle metabolic process", - "organelle organization", - "absent anatomical entity in the limb", - "Abnormality of the upper limb", - "Abnormality of digestive system morphology", - "negative regulation of biological process", - "negative regulation of gene expression", - ], - "has_phenotype_count": 15, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0013499", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group P", - "full_name": None, - "deprecated": None, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.", - "xref": ["DOID:0111092", "GARD:15731", "OMIM:613951"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": [ - "FANCP", - "Fanconi Anemia, complementation group type P", - "Fanconi anaemia caused by mutation in SLX4", - "Fanconi anaemia caused by mutation in Slx4", - "Fanconi anaemia complementation group type P", - "Fanconi anemia caused by mutation in SLX4", - "Fanconi anemia caused by mutation in Slx4", - "Fanconi anemia complementation group type P", - "Fanconi anemia, complementation group P", - "SLX4 Fanconi anaemia", - "SLX4 Fanconi anemia", - "Slx4 Fanconi anaemia", - "Slx4 Fanconi anemia", - ], - "uri": None, - "iri": None, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0000252", - "HP:0002860", - "HP:0002984", - "HP:0009777", - "HP:0000581", - "HP:0001510", - "HP:0001876", - "HP:0000347", - "HP:0009778", - "HP:0000414", - "HP:0000957", - "HP:0001903", - "HP:0012745", - "HP:0000085", - "HP:0003221", - "HP:0004322", - "HP:0000365", - "HP:0000028", - "HP:0000125", - "HP:0001045", - ], - "has_phenotype_label": [ - "Microcephaly", - "Squamous cell carcinoma", - "Hypoplasia of the radius", - "Absent thumb", - "Blepharophimosis", + "reproductive process", + "abnormally formed anatomical entity in independent continuant", + "body proper", + "abnormal respiratory tube morphology", + "Abnormal morphology of female internal genitalia", + "anatomical cluster", + "blood", + "phenotype", + "abnormal pigmentation in independent continuant", + "Abnormal involuntary eye movements", + "Abnormal tracheal morphology", + "process", + "subdivision of organism along main body axis", + "prominent forehead", + "abnormal incomplete closing of the arch of centrum of vertebra", + "segment of manus", + "Abnormality of the nose", + "developmental process involved in reproduction", + "Abnormal anterior chamber morphology", + "abnormal innominate bone morphology", + "aplasia or hypoplasia of anatomical entity", + "limb long bone", + "compound organ", + "eye", + "abnormal synovial joint morphology", + "reproductive system", + "multi-limb segment region", + "ventricle of nervous system", + "paralysed anatomical entity", + "pelvic appendage", + "abnormal eyeball of camera-type eye", + "abnormal anterior uvea morphology", + "decreased size of the eyeball of camera-type eye", + "absent anatomical entity", + "cerebral cortex", + "tracheobronchial tree", + "malformed anatomical entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "Abnormality of the peripheral nervous system", + "trunk region element", + "skeleton of pectoral complex", + "specifically dependent continuant", + "abnormal autonomic nervous system morphology", + "ganglion of peripheral nervous system", + "Abnormal reflex", + "hindlimb joint", + "abnormal anatomical entity morphology", + "abnormally decreased number of anatomical entity in the independent continuant", + "Short palpebral fissure", + "Abnormal skeletal morphology", + "increased pigmentation", + "decreased spermatogenesis", + "anatomical structure development", + "arterial blood vessel", + "abnormal bone element mass density", + "main body axis", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Sloping forehead", + "abnormal manual digit 5 morphology", + "non-connected functional system", + "external soft tissue zone", + "digit plus metapodial segment", + "head", + "Dolichocephaly", + "common carotid artery plus branches", + "drooping eyelid", + "Abnormal cardiac ventricle morphology", + "abnormal small intestine morphology", + "Abnormality of brain morphology", + "abnormal heart morphology", + "appendage girdle region", + "anatomical structure morphogenesis", + "abnormal limb bone", + "abnormal spinal cord morphology", + "Hypogonadism", + "arm bone", + "urethral opening", + "Aganglionic megacolon", + "Abnormal nervous system morphology", + "sense organ", + "abnormal reproductive system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "Abnormality of head or neck", + "abnormally fused manual digit and anatomical entity", + "abnormally decreased functionality of the myocardium", + "Abnormal peripheral nerve morphology by anatomical site", + "Syndactyly", + "abnormal head morphology", + "digestive tract", + "abnormality of camera-type eye physiology", + "organism subdivision", + "subdivision of digestive tract", + "Abnormal pinna morphology", + "abnormally protruding anatomical entity", + "abnormal respiratory system morphology", + "respiratory airway", + "abnormal secondary palate morphology", + "venous system", + "musculoskeletal movement", + "decreased qualitatively biological_process", + "anatomical entity", + "abnormal trachea morphology", + "abnormal phenotype by ontology source", + "subdivision of trunk", + "behavior process", + "anterior chamber of eyeball", + "abnormal development of anatomical entity", + "increased biological_process", + "abnormal postcranial axial skeleton morphology", + "Abnormal ventriculoarterial connection", + "alimentary part of gastrointestinal system", + "abnormal renal system morphology", + "abnormal biological_process", + "abnormal cardiac ventricle morphology in the heart", "Growth delay", - "Pancytopenia", - "Micrognathia", - "Short thumb", - "Bulbous nose", - "Cafe-au-lait spot", - "Anemia", - "Short palpebral fissure", - "Horseshoe kidney", - "Chromosomal breakage induced by crosslinking agents", + "kidney", + "embryo development", + "brain gray matter", + "Abnormal tracheobronchial morphology", + "subdivision of tube", + "Abnormal respiratory system morphology", + "Abnormal lens morphology", + "Multiple cafe-au-lait spots", + "system", + "transparent eye structure", + "Abnormality of the respiratory system", + "girdle skeleton", + "asymmetrically curved anatomical entity", + "Abnormal eye physiology", + "segment of autopod", + "thoracic segment of trunk", + "pes bone", + "abnormal bone of pelvic complex morphology", + "arm", "Short stature", - "Hearing impairment", - "Cryptorchidism", - "Pelvic kidney", - "Vitiligo", - ], - "has_phenotype_closure": [ - "HP:0001045", - "UPHENO:0081755", - "HP:0008669", - "GO:0007283", - "UPHENO:0053580", - "UPHENO:0050108", - "UPHENO:0049985", - "HP:0000811", - "UBERON:0004053", - "UPHENO:0049970", - "UBERON:0000473", - "CL:0000039", - "CL:0000413", - "UBERON:0000990", - "UPHENO:0086023", - "HP:0012243", - "UPHENO:0086198", - "UPHENO:0085875", - "CL:0000015", - "UBERON:0003101", - "GO:0032502", - "GO:0022414", - "GO:0000003", - "UBERON:0005156", - "UPHENO:0050101", - "UPHENO:0078729", - "UPHENO:0021561", - "GO:0003006", - "GO:0048609", - "HP:0000025", - "UPHENO:0085194", - "UPHENO:0002371", - "UBERON:0003133", - "UBERON:0003135", - "CL:0000300", - "UBERON:0000079", - "UPHENO:0002597", - "UPHENO:0087973", - "UPHENO:0082875", - "HP:0000364", - "UPHENO:0052970", - "UBERON:0002105", - "GO:0050877", - "UPHENO:0005518", - "CL:0000586", - "HP:0000598", - "GO:0003008", - "HP:0012874", - "GO:0007600", - "UPHENO:0002240", - "GO:0032504", - "UPHENO:0052231", - "UPHENO:0080351", - "UPHENO:0075159", - "HP:0010461", - "GO:0010468", - "GO:0010558", - "GO:0019222", - "GO:0006139", - "GO:0043170", - "GO:0007605", - "GO:0046483", - "GO:0006725", - "GO:0034641", - "UPHENO:0049990", - "UPHENO:0049873", - "GO:0031049", - "GO:0065007", - "GO:0008152", - "GO:0009987", - "UPHENO:0049748", - "UPHENO:0049700", - "GO:0071840", - "HP:0001939", - "UPHENO:0050113", - "UPHENO:0050121", - "GO:0010556", - "HP:0000035", - "GO:0031326", - "GO:0060255", - "GO:0009892", - "GO:0090304", - "GO:0006996", - "GO:0043933", - "GO:0050789", - "GO:0044238", - "GO:0006807", - "GO:0071704", - "HP:0004322", - "GO:0010629", - "UBERON:0009569", - "UBERON:0005172", - "UPHENO:0002832", - "HP:0000365", - "HP:0012210", - "UPHENO:0050620", - "UBERON:0004122", - "UBERON:8450002", - "UPHENO:0041075", - "UPHENO:0087427", - "GO:0071824", - "UPHENO:0002642", - "UPHENO:0002803", - "UPHENO:0082129", - "UPHENO:0082444", - "UPHENO:0075902", - "UPHENO:0041629", - "UBERON:0002417", - "UBERON:0002100", - "HP:0100542", - "UPHENO:0080300", - "UBERON:0001008", - "UPHENO:0002595", - "UPHENO:0041821", - "UPHENO:0088162", - "UPHENO:0076779", - "HP:0001903", - "UPHENO:0088170", - "UPHENO:0059829", - "HP:0000953", - "HP:0007400", - "GO:0048523", - "UPHENO:0054970", - "GO:0043473", - "HP:0001034", - "HP:0012733", - "UBERON:0004175", - "UPHENO:0074584", - "HP:0011121", - "UPHENO:0081424", - "UPHENO:0074572", - "HP:0000957", - "UPHENO:0074575", - "UPHENO:0060026", - "UPHENO:0076739", - "UPHENO:0080221", - "UPHENO:0050008", - "UPHENO:0050625", - "UPHENO:0074589", - "HP:0000436", - "UBERON:0006983", - "BFO:0000141", - "UPHENO:0087430", - "GO:0007276", - "UBERON:0007827", - "UPHENO:0087950", - "UPHENO:0085873", - "UBERON:0002268", - "UPHENO:0021517", - "UPHENO:0002907", - "HP:0000366", - "UBERON:0000916", - "HP:0010938", - "UPHENO:0065599", - "HP:0009381", - "HP:0011927", - "UPHENO:0046624", - "UPHENO:0046411", - "HP:0000277", + "Abnormality of the vertebral column", + "abnormal digestive system", + "Abnormality of the digestive system", + "decreased anatomical entity mass", + "Abnormal morphology of the great vessels", + "pectoral complex", + "flat longitudinal arch of pes", + "abnormal bone of pectoral complex morphology", + "orifice", + "craniocervical region", + "abnormal developmental process", + "Abnormality of cardiovascular system morphology", + "abnormal respiratory system", + "Abnormal penis morphology", + "Intellectual disability", + "abnormal ocular adnexa", + "embryonic structure", + "brain ventricle/choroid plexus", + "proximo-distal subdivision of respiratory tract", + "Cognitive impairment", + "abnormal male reproductive system", + "abnormal mouth morphology", + "organ subunit", + "Abnormal neural tube morphology", + "ectoderm-derived structure", + "Aplasia/Hypoplasia of the testes", + "left cardiac chamber", + "Slanting of the palpebral fissure", + "Hip dislocation", + "Morphological abnormality of the gastrointestinal tract", + "oral cavity", + "vestibulo-ocular reflex", + "neocortex", + "Abnormality of refraction", + "digit 5", + "abnormal long bone morphology", + "digitopodium bone", + "endoderm-derived structure", + "abnormal penis", + "germ line cell", + "bone element hypoplasia in independent continuant", + "abnormal artery morphology", + "respiratory tract", + "respiratory tube", + "glans", + "abnormality of male reproductive system physiology", + "tube", + "brain ventricle", + "future nervous system", + "skeleton", + "multicellular organism", + "thoracic cavity element", + "Nystagmus", + "esophagus", + "physiologic nystagmus", + "hemolymphoid system", + "Lower extremity joint dislocation", + "lower respiratory tract", + "visual system", + "abnormal camera-type eye morphology", + "cornea", + "abdominal wall", + "3-D shape anatomical entity", + "Abnormality of the ear", + "eyelid", + "abnormally decreased number of leukocyte", + "orbital region", + "multicellular organism development", + "Ventriculomegaly", + "Abnormal anterior eye segment morphology", + "abnormal anatomical entity", + "Abnormality of the upper urinary tract", + "abnormal bony vertebral centrum morphology", + "abnormal alimentary part of gastrointestinal system", + "Abnormal carotid artery morphology", + "Astigmatism", + "circulatory organ", + "uvea", + "shape cornea", + "paired limb/fin segment", + "pelvic girdle region", + "simple eye", + "abnormal posterior nasal aperture morphology", + "curvature anatomical entity", + "abnormal orbital region", + "morphogenesis of an epithelium", + "epithelial tube morphogenesis", + "abnormal palpebral fissure", + "abnormal tube formation", + "circulatory system", + "Spina bifida", + "Aplasia/hypoplasia involving bones of the extremities", + "multicellular organismal-level homeostasis", + "anterior segment of eyeball", + "chordate embryonic development", + "skeleton of digitopodium", + "embryonic epithelial tube formation", + "cranium", + "dermatocranium", + "Abnormal axial skeleton morphology", + "abnormal vertebral column", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "Abnormal ileum morphology", + "increased qualitatively biological_process in independent continuant", + "joint of girdle", + "neural tube closure", + "abnormal ileum morphology", + "abnormal eyelid morphology", + "manus", + "abnormal nose morphology", + "embryonic tissue", + "ileum", + "Ventricular septal defect", + "small intestine", + "Abnormal jaw morphology", + "irregular bone", + "Meckel diverticulum", + "trunk bone", + "Azoospermia", + "Abnormal small intestine morphology", + "skeleton of lower jaw", + "abnormal small intestine", + "anus", + "Abnormal skull morphology", + "Abnormal anus morphology", + "Abnormal ear physiology", + "ecto-epithelium", + "abnormal closing of the anatomical entity", + "abnormal anus", + "Abnormal spermatogenesis", + "anatomical entity atresia", + "abnormally fused manual digit and manual digit", + "sensory perception", + "Abnormality of corneal shape", + "abnormality of anatomical entity mass", + "abnormality of multicellular organism mass", + "Abnormality of body weight", + "Weight loss", + "Decreased body weight", + "autopodial extension", + "growth", + "cardiac valve", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal craniocervical region morphology", + "abnormal growth", + "pelvic complex", + "Abnormality of the skin", + "outflow tract of ventricle", + "Abnormality of the choanae", + "abnormal iris morphology", + "abnormal cardiac ventricle morphology in the independent continuant", + "abnormal forelimb zeugopod bone", + "valve", + "abnormal platelet morphology", + "abnormal anatomical entity morphology in the manus", + "increased length of the anatomical entity", + "Cafe-au-lait spot", + "thoracic cavity blood vessel", + "aortic valve", + "abnormal internal ear", + "abnormal outflow part of left ventricle morphology", + "abnormal anatomical entity morphology in the heart", + "curvature anatomical entity in independent continuant", + "hypothalamus-pituitary axis", + "endochondral element", + "anatomical entity hypoplasia", + "abnormal cardiac ventricle morphology", + "motile cell", + "abnormal leg", + "internal ear", + "heart left ventricle", + "epithelium", + "autopodial skeleton", + "abnormal cardiac valve morphology in the independent continuant", + "Opisthokonta", + "Abnormality of digestive system morphology", + "Abnormality of the ocular adnexa", + "gamete", + "upper jaw region", + "Abnormal eyelid morphology", + "Abnormal facial skeleton morphology", + "multi organ part structure", + "increased length of the anatomical line between pupils", + "palpebral fissure", + "Abnormal ocular adnexa morphology", + "Upslanted palpebral fissure", + "manual digit plus metapodial segment", + "Abnormal bone ossification", + "female reproductive organ", + "ocular adnexa", + "obsolete multicellular organism reproduction", + "decreased developmental process", + "Abnormality of the palpebral fissures", + "Abnormal testis morphology", + "deviation of anatomical entity towards the middle", + "opaque anatomical entity", + "heart right ventricle", + "increased size of the anatomical entity", + "lens of camera-type eye", + "Cataract", + "abnormal lens of camera-type eye morphology", + "Atrial septal defect", + "drooping anatomical entity", + "clavate digit", + "shape eyelid", + "Ptosis", + "Abnormal cornea morphology", + "gland", + "abnormal artery morphology in the independent continuant", + "Abnormality iris morphology", + "abnormal penis morphology", + "abnormal cranium morphology", + "myeloid cell homeostasis", + "glans penis", + "Neoplasm by anatomical site", + "olfactory system", + "Abnormality of the nervous system", + "pedal digit digitopodial skeleton", + "pelvic region of trunk", + "bony vertebral centrum", + "abnormal olfactory system morphology", + "abnormal nose", + "sperm", + "internal naris", + "olfactory organ", + "cranial skeletal system", + "nose", + "endocrine gland", + "posterior nasal aperture", + "decreased size of the anatomical entity in the pectoral complex", + "musculature of body", + "nerve of head region", + "internal naris atresia", + "Abnormal male urethral meatus morphology", + "male urethra", + "posterior nasal aperture atresia", + "Hypospadias", + "epicanthal fold", + "hindlimb long bone", + "excretory system", + "abnormal urethra", + "renal system", + "abnormal lower urinary tract", + "segment of pes", + "voluntary movement behavior", + "Renal hypoplasia/aplasia", + "thoracic segment organ", + "urethra", + "gray matter of telencephalon", + "urethral meatus", + "nervous system", + "abnormal face", + "Displacement of the urethral meatus", + "abnormally fused anatomical entity and manual digit", + "abnormal renal system", + "Abnormality of the urethra", + "abnormal limb", + "immaterial entity", + "Abnormality of the lower urinary tract", + "abnormal spermatogenesis", + "Abnormal shape of the palpebral fissure", + "Scoliosis", + "Abnormal curvature of the vertebral column", + "tube closure", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormality of the abdominal organs", + "autopod region", + "Abnormal forearm morphology", + "Abnormality of enteric nervous system morphology", + "regional part of nervous system", + "Abnormal midface morphology", + "Deviation of the 5th finger", + "regional part of brain", + "Visual impairment", + "ulna", + "abdomen", + "deviation of manual digit towards the middle", + "Abnormal vascular morphology", + "Abnormality of skull size", + "Abnormal pulmonary valve morphology", + "abnormal anterior chamber of eyeball morphology", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "telencephalon", + "Decreased head circumference", + "abnormality of renal system physiology", + "abnormal esophagus morphology", + "abnormal size of anatomical entity", + "Leukopenia", + "abnormal hematopoietic system", + "abnormal ocular adnexa morphology", + "abnormally decreased number of hematopoietic cell", + "semi-lunar valve", + "hematopoietic cell", + "nucleate cell", + "abnormal uvea morphology", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal number of anatomical enitites of type hematopoietic cell", + "digit 1 plus metapodial segment", + "synovial joint", + "Abnormality of the anus", + "abnormal immune system", + "pedal digitopodium region", + "abnormally decreased number of cell", + "Functional abnormality of the inner ear", + "pedal digit", + "haemolymphatic fluid", + "abnormally decreased number of leukocyte in the blood", + "axial skeleton plus cranial skeleton", + "Abnormal leukocyte morphology", + "abnormal number of anatomical entities of type anatomical entity in blood", + "abnormal kidney", + "abnormal number of anatomical enitites of type leukocyte", + "Abnormality of thrombocytes", + "Abnormal immune system morphology", + "abnormally decreased number of anatomical entity in the multicellular organism", + "digit 5 plus metapodial segment", + "Myelodysplasia", + "abnormal immune system morphology", + "Hematological neoplasm", + "Reduced bone mineral density", + "abnormal size of brain ventricle", + "nerve", + "Frontal bossing", + "zone of organ", + "increased size of the brain ventricle", + "Abnormality of vision", + "Non-obstructive azoospermia", + "increased size of the anatomical entity in independent continuant", + "central nervous system gray matter layer", + "chamber of eyeball", + "pedal digit bone", + "cardiac atrium", + "Abnormality of the integument", + "delayed growth", + "Abnormality of the endocrine system", + "forelimb", + "skeleton of pelvic complex", + "abnormal endocrine system", + "abdominal segment of trunk", + "Conotruncal defect", + "digestive system gland", + "musculoskeletal system", + "abdominal segment element", + "glandular system", + "jaw skeleton", + "abnormal uterus morphology", + "hindlimb bone", + "exocrine gland", + "Decreased fertility", + "behavior", + "abdomen element", + "Abnormality of the liver", + "liver", + "abnormal hypothalamus-pituitary axis", + "increased anatomical entity length in independent continuant", + "Hypertelorism", + "abnormally fused pedal digit and anatomical entity", + "abnormal location of anatomical entity", + "Cardiomyopathy", + "flat bone", + "immaterial anatomical entity", + "abnormal anatomical entity, curved", + "anatomical line", + "non-material anatomical boundary", + "abnormal anatomical entity topology in independent continuant", + "abnormal anatomical entity length", + "cavitated compound organ", + "Abnormal duodenum morphology", + "duodenum", + "Abnormality of the lower limb", + "skeleton of pedal digitopodium", + "skeleton of pedal acropodium", + "vertebral centrum element", + "pelvic appendage skeleton", + "hindlimb endochondral element", + "skeleton of pes", + "abnormal incomplete closing of the interventricular septum", + "Abnormal toe morphology", + "pes", + "abnormal phalanx morphology", + "Choanal atresia", + "acropodial skeleton", + "digitopodium region", + "3-D shape anatomical entity in independent continuant", + "Abnormal digit morphology", + "Duodenal stenosis", + "Abnormal foot morphology", + "Hypermelanotic macule", + "digit", + "abnormal hindlimb morphology", + "clavate anatomical entity", + "Hydroureter", + "Abnormal uterus morphology", + "Abnormal oral morphology", + "abnormal digit morphology", + "shape forehead", + "posterior region of body", + "individual digit of digitopodial skeleton", + "phalanx endochondral element", + "abnormal forehead morphology", + "Abnormal lower limb bone morphology", + "abnormal digit", + "leg", + "abnormally decreased number of anatomical entity in the blood", + "phalanx of pes", + "phalanx", + "abnormal skeletal system morphology", + "lower limb segment", + "abnormal autopod region morphology", + "nervous system cell part layer", + "aplasia or hypoplasia of uvea", + "abnormal pes morphology", + "abnormal phalanx of pes morphology", + "genitourinary system", + "Limb undergrowth", + "Abnormality of the kidney", + "abnormal kidney morphology", + "skull", + "femur", + "Decreased fertility in males", + "primary circulatory organ", + "aplasia or hypoplasia of palatine uvula", + "abnormal joint of girdle morphology", + "anatomical projection", + "Abnormal aortic valve morphology", + "midface", + "abnormal soft palate morphology", + "abnormal mouth", + "Abnormal soft palate morphology", + "shape palpebral fissure", + "abnormal palatine uvula morphology", + "anatomical cavity", + "abnormal midface morphology", + "palatine uvula", + "Abnormal erythrocyte morphology", + "soft palate", + "abnormal oral cavity morphology", + "Abnormal oral cavity morphology", + "abnormal asymmetry of face", + "abnormal integument", + "abnormal cardiac valve morphology", + "Localized skin lesion", + "Abnormal 5th finger morphology", + "Abnormal thumb morphology", + "aplasia or hypoplasia of ulna", + "manual digit bone", + "abnormal biological_process in independent continuant", + "non-functional kidney", + "decreased size of the anatomical entity", + "Abnormal cerebral cortex morphology", + "forebrain", + "increased qualitatively biological_process", + "abnormal cell morphology", + "anatomical collection", + "Macule", + "eyeball of camera-type eye", + "abnormal upper urinary tract", + "abnormal skin of body", + "abnormal nerve", + "abnormally increased number of anatomical entity in the independent continuant", + "limb joint", + "Hyperpigmentation of the skin", + "Abnormality of skin morphology", + "integument", + "abnormality of kidney physiology", + "changed biological_process rate in independent continuant", + "increased biological_process in independent continuant", + "ulna hypoplasia", + "increased biological_process in skin of body", + "abnormal cornea, curved", + "pigmentation", + "increased pigmentation in independent continuant", + "skeleton of manus", + "abnormal cardiac valve morphology in the heart", + "Abnormality of the hand", + "bone of hip region", + "Aplasia/hypoplasia of the extremities", + "Aplasia/Hypoplasia of fingers", + "abnormal manus", + "decreased pigmentation in skin of body", + "Abnormal finger morphology", + "Aplasia/hypoplasia involving bones of the hand", + "Aplasia/hypoplasia involving the skeleton", + "abnormal manus morphology", + "vascular system", + "abnormal anterior segment of eyeball morphology", + "aplasia or hypoplasia of skeleton", + "male reproductive system", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "Abnormal internal genitalia", + "abnormally fused anatomical entity and digit", + "abnormal developmental process involved in reproduction", + "abnormally fused digit and anatomical entity", + "appendage", + "abnormally fused digit and digit", + "Clinodactyly of the 5th finger", + "anatomical space", + "abnormally fused anatomical entity and anatomical entity", + "biogenic amine secreting cell", + "ossification", + "Abnormality of bone mineral density", + "manual digit 5", + "cardiac chamber", + "abnormal spatial pattern of anatomical entity", + "appendicular skeletal system", + "abnormal location of eyeball of camera-type eye", + "deviation of manual digit 5", + "trunk", + "manual digit 5 plus metapodial segment", + "digit 1 or 5", + "deviation of digit towards the middle", + "abnormal late embryo", + "Deviation of the hand or of fingers of the hand", + "Abnormality of the hypothalamus-pituitary axis", + "deviation of anatomical entity", + "deviation of manual digit", + "paired limb/fin skeleton", + "Abnormal nervous system physiology", + "Hypoplasia of the ulna", + "hypertrophic multicellular anatomical structure", + "dermal skeletal element", + "decreased length of anatomical entity in independent continuant", + "decreased height of the anatomical entity", + "Abnormality of the eye", + "decreased size of the ulna", + "forelimb zeugopod bone hypoplasia", + "Upper limb undergrowth", + "abnormal incomplete closing of the interatrial septum", + "intestine", + "Decreased multicellular organism mass", + "Aplasia/Hypoplasia of the ulna", + "aplasia or hypoplasia of telencephalon", + "decreased size of the anatomical entity in the independent continuant", + "Short forearm", + "increased height of the secondary palate", + "Tetralogy of Fallot", + "Forearm undergrowth", + "Aplasia/hypoplasia involving forearm bones", + "articulation", + "skeletal joint dislocation", + "articular system", + "peripheral nervous system", + "abnormal hip joint morphology", + "pelvic girdle skeleton", + "pelvic girdle bone/zone", + "systemic arterial system", + "Abnormal cerebral morphology", + "Joint dislocation", + "Micrognathia", + "anatomical entity dislocation", + "Abnormal localization of kidney", + "abnormal skeletal joint morphology", + "skin of body", + "cerebral hemisphere gray matter", + "abnormal pelvic girdle bone/zone morphology", + "abnormal embryonic tissue morphology", + "zone of bone organ", + "Abnormal hip bone morphology", + "Aplasia/Hypoplasia of the radius", + "Abnormal pelvic girdle bone morphology", + "abnormal external ear", + "girdle bone/zone", + "abnormal jaw skeleton morphology", + "Abnormality of the face", + "synovial joint of pelvic girdle", + "abnormal hindlimb stylopod morphology", + "Abnormality of femur morphology", + "abnormal femur morphology", + "dentary", + "femur endochondral element", + "stylopod", + "upper leg bone", + "Abnormality of enteric ganglion morphology", + "Unusual infection", + "abnormal enteric ganglion morphology", + "Abnormal autonomic nervous system morphology", + "abnormal skin of body morphology", + "Abnormal peripheral nervous system ganglion morphology", + "enteric ganglion", + "abnormal face morphology", + "axial skeletal system", + "abnormal intestine morphology", + "autonomic ganglion", + "parasympathetic nervous system", + "Abnormality of the autonomic nervous system", + "autonomic nervous system", + "Abnormal hand morphology", + "abnormal ganglion of peripheral nervous system morphology", + "parasympathetic ganglion", + "enteric nervous system", + "abnormal ocular surface region morphology", + "abnormal ganglion morphology", + "abnormal vascular system morphology", + "cortex of cerebral lobe", + "abnormal frontal cortex morphology", + "tetrapod frontal bone", + "abnormal roof of mouth morphology", + "prominent anatomical entity", + ], + "has_phenotype_count": 106, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0013248", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group O", + "full_name": None, + "deprecated": None, + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.", + "xref": ["DOID:0111096", "GARD:15656", "OMIM:613390", "UMLS:C3150653"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": [ + "FANCO", + "Fanconi Anemia, complementation group type O", + "Fanconi anaemia caused by mutation in RAD51C", + "Fanconi anaemia caused by mutation in Rad51C", + "Fanconi anaemia complementation group type O", + "Fanconi anemia caused by mutation in RAD51C", + "Fanconi anemia caused by mutation in Rad51C", + "Fanconi anemia complementation group type O", + "Fanconi anemia, complementation group O", + "RAD51C Fanconi anaemia", + "RAD51C Fanconi anemia", + "Rad51C Fanconi anaemia", + "Rad51C Fanconi anemia", + ], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": [ "HP:0040012", - "UPHENO:0081314", - "UPHENO:0020950", - "HP:0034261", - "HP:0031816", - "UPHENO:0080382", - "UBERON:0007914", - "UBERON:0011595", - "UPHENO:0002378", - "UPHENO:0005597", - "UBERON:0001710", - "UBERON:0004742", - "UPHENO:0081788", - "UPHENO:0076800", - "UBERON:0002514", - "UPHENO:0087802", - "UBERON:0000489", - "UPHENO:0080165", - "UBERON:0003457", - "UBERON:0013765", - "UPHENO:0088168", - "HP:0009116", - "UPHENO:0080352", - "UPHENO:0002828", - "UBERON:0004756", - "UPHENO:0076803", - "GO:0016043", - "GO:0009890", - "HP:0025031", - "HP:0000119", - "UPHENO:0084457", - "HP:0009118", - "GO:0050794", - "HP:0000153", - "UBERON:0010364", - "UBERON:0011158", - "UPHENO:0041465", - "UPHENO:0083646", - "HP:0009122", - "UPHENO:0081141", - "HP:0025033", - "UBERON:0001007", - "CL:0000408", - "CL:0000329", - "UBERON:0013522", - "UPHENO:0003055", - "UPHENO:0075220", - "UPHENO:0000541", - "UPHENO:0087339", - "UBERON:0002193", - "UPHENO:0084928", - "UPHENO:0087355", - "UBERON:0005173", - "HP:0011893", - "UPHENO:0004459", - "HP:0000078", - "GO:0006325", - "CL:0002242", - "GO:0009889", - "CL:0000219", - "UBERON:0000463", - "UPHENO:0001003", - "CL:0000225", - "HP:0001167", - "CL:0000988", - "HP:0020047", - "UPHENO:0086172", - "UPHENO:0081091", - "UPHENO:0084987", - "HP:0032251", - "HP:0000079", - "RO:0002577", - "HP:0001881", - "UBERON:0001690", - "UPHENO:0063722", - "GO:0031327", - "HP:0001872", - "GO:0031324", - "UPHENO:0086173", - "GO:0019953", - "CL:0000764", - "HP:0000077", - "UPHENO:0080114", - "UBERON:0001474", - "UBERON:0002371", - "HP:0011875", - "HP:0000271", - "UPHENO:0085371", - "GO:1901360", - "HP:0011873", - "HP:0011314", - "UPHENO:0085984", - "HP:0001507", - "HP:0001871", - "HP:0010935", - "UBERON:0002398", - "UPHENO:0088166", - "HP:0001876", - "UPHENO:0085344", - "UBERON:0002616", - "UPHENO:0076675", - "UPHENO:0075878", - "CL:0000232", - "CL:0000081", - "CL:0000738", - "UPHENO:0077426", - "GO:0040007", - "GO:0010605", - "HP:0032039", - "UPHENO:0076799", - "UBERON:0000020", - "GO:0050954", - "UBERON:0007842", - "UBERON:0004456", - "CL:0000458", - "HP:0030669", - "UBERON:0004708", - "CL:0000457", - "UPHENO:0084715", - "UBERON:0000161", - "HP:0005561", - "CL:0000763", - "UBERON:5006048", - "UPHENO:0054577", - "UBERON:0001711", - "HP:0011017", - "HP:0012745", - "UBERON:0001819", - "CL:0002092", - "HP:0000315", - "UPHENO:0034770", - "UPHENO:0075997", - "UPHENO:0046753", - "UBERON:0010707", - "UPHENO:0002833", - "UBERON:0001032", - "UPHENO:0075198", - "UBERON:0004054", - "UPHENO:0086700", - "UBERON:0002199", - "UBERON:5002544", - "UPHENO:0003085", + "HP:0002984", + "HP:0009777", + "HP:0001627", + "HP:0001245", + "HP:0002023", + "HP:0000126", + "HP:0000028", + "HP:0009778", + "HP:0009623", + "HP:0000107", + "HP:0003241", + "HP:0004322", + "HP:0003774", + "HP:0025023", + ], + "has_phenotype_label": [ + "Chromosome breakage", + "Hypoplasia of the radius", + "Absent thumb", + "Abnormal heart morphology", + "Small thenar eminence", + "Anal atresia", + "Hydronephrosis", + "Cryptorchidism", + "Short thumb", + "Proximal placement of thumb", + "Renal cyst", + "External genital hypoplasia", + "Short stature", + "Stage 5 chronic kidney disease", + "Rectal atresia", + ], + "has_phenotype_closure": [ + "NCBITaxon:33154", + "HP:0002242", + "UPHENO:0002714", + "UPHENO:0087006", + "NCBITaxon:2759", "UBERON:5001463", - "HP:0009380", - "UPHENO:0084448", - "UPHENO:0049587", - "UBERON:0002470", - "UPHENO:0084727", - "UBERON:0012360", - "UPHENO:0081790", - "HP:0009777", + "UPHENO:0009382", + "UBERON:0008837", "UPHENO:0002905", - "UPHENO:0080325", - "UPHENO:0079876", - "UBERON:0034923", - "UBERON:0002390", - "UBERON:0012354", - "UBERON:0004381", - "UBERON:0012140", - "GO:0032501", - "UBERON:0005451", - "UBERON:0004088", - "UBERON:0035639", - "UBERON:0001463", - "UPHENO:0041226", - "UPHENO:0046707", - "UBERON:0001555", - "UPHENO:0002635", + "HP:0000077", + "UBERON:0002544", + "UPHENO:0086700", "UPHENO:0026506", - "UBERON:0000004", - "UPHENO:0026183", - "UBERON:0001444", - "UBERON:0011676", + "UBERON:0019221", + "UPHENO:0081466", + "UBERON:0004765", + "UBERON:0000467", + "UBERON:0001015", + "UPHENO:0080114", + "HP:0001155", + "UBERON:0015001", + "UPHENO:0005433", + "UPHENO:0008523", + "UPHENO:0006910", + "UBERON:0005451", + "UBERON:0001442", + "HP:0000001", + "UPHENO:0018390", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0002101", + "UPHENO:0075195", + "UPHENO:0086132", + "HP:0006501", + "UBERON:0008785", + "GO:0010558", + "UPHENO:0002786", + "UBERON:0004710", + "UPHENO:0075893", + "UPHENO:0050108", + "HP:0000107", + "UBERON:0004708", + "UBERON:0000061", + "GO:1901360", + "GO:0032504", + "UPHENO:0075159", + "HP:0040070", + "HP:0033127", + "UBERON:0001630", + "HP:0011425", + "UBERON:0012140", + "UBERON:0010363", + "GO:0044237", + "UBERON:0001474", + "GO:0006259", + "UBERON:0002100", + "UPHENO:0082875", + "UBERON:0010708", "UPHENO:0084766", - "HP:0000240", - "HP:0001172", - "UPHENO:0086005", + "GO:0046483", + "UBERON:0015212", + "UBERON:0013765", + "UBERON:0012139", + "UPHENO:0012541", + "UBERON:0002204", + "UPHENO:0020041", + "UBERON:0003460", + "UPHENO:0001002", + "HP:0009601", + "UBERON:0003607", + "UBERON:0001423", + "HP:0009826", + "UBERON:0002529", + "UBERON:0006717", + "UPHENO:0001003", + "UPHENO:0076727", + "UPHENO:0084763", + "UPHENO:0020584", + "UBERON:0002091", + "UBERON:0010000", + "UPHENO:0020950", + "UPHENO:0002880", + "UBERON:0012475", + "HP:0009824", + "UPHENO:0088186", + "HP:0009815", + "HP:0006503", + "UBERON:0010758", + "UPHENO:0079872", + "GO:0019953", + "HP:0045060", + "UPHENO:0086633", + "UBERON:0005172", + "UPHENO:0002803", + "UBERON:0011584", + "UBERON:0000026", + "UBERON:0000075", + "UPHENO:0080352", + "UBERON:0015061", + "UPHENO:0002833", + "HP:0011842", + "UPHENO:0075696", + "HP:0000027", + "UPHENO:0069294", "UPHENO:0080126", + "UBERON:0001440", + "HP:0001167", + "HP:0040064", + "UBERON:0002513", + "GO:0031323", + "GO:0022414", + "UPHENO:0080325", + "UPHENO:0002642", + "UPHENO:0081091", + "UPHENO:0002378", + "UPHENO:0076710", + "BFO:0000040", + "UPHENO:0049990", + "UPHENO:0050121", + "HP:0011314", + "UPHENO:0012274", + "UBERON:0002113", + "PATO:0000001", + "GO:0005623", + "HP:0011961", + "GO:0043170", + "UPHENO:0076703", + "UPHENO:0049700", + "HP:0005927", + "UBERON:0003101", + "BFO:0000002", + "GO:0006996", + "UPHENO:0052778", + "HP:0011927", + "HP:0009821", + "UBERON:0005881", + "UBERON:0001062", + "UBERON:0010314", + "CL:0000000", + "HP:0002664", + "GO:0006139", + "UPHENO:0050113", + "UPHENO:0046540", + "UBERON:0000477", + "GO:0090304", "UBERON:0012141", - "UBERON:0002389", - "UPHENO:0002948", - "UPHENO:0002708", - "HP:0000086", - "UBERON:0006717", - "UBERON:0000970", - "UPHENO:0006910", - "UPHENO:0085144", - "UPHENO:0086956", - "HP:0002977", - "UBERON:5002389", + "UPHENO:0087510", + "UBERON:5002544", + "HP:0003220", + "HP:0000118", + "UPHENO:0001005", "UPHENO:0076724", - "HP:0030791", - "UPHENO:0026028", - "UPHENO:0053644", - "HP:0009601", - "HP:0001155", - "UBERON:0000165", - "UBERON:0003129", - "UBERON:0001708", - "UBERON:0000019", - "UBERON:0001016", - "HP:0005922", - "CL:0000233", - "HP:0000028", - "UBERON:0015212", - "UBERON:0002416", + "UPHENO:0081451", + "UBERON:0004120", + "HP:0040012", + "UBERON:0010707", + "UPHENO:0076723", + "NCBITaxon:131567", + "UPHENO:0049748", + "GO:0009987", + "UBERON:0010703", + "BFO:0000004", + "UBERON:0013702", + "UPHENO:0080187", + "UBERON:0002102", + "UPHENO:0081204", + "GO:0031052", + "UBERON:0000489", + "GO:0034641", + "GO:0009892", + "GO:0010605", + "UPHENO:0080079", "UPHENO:0031839", - "HP:0011355", - "HP:0001510", - "HP:0033127", - "UPHENO:0087349", - "UPHENO:0080087", - "UPHENO:0078606", - "UPHENO:0002896", - "HP:0009824", - "HP:0045060", - "HP:0000924", - "UBERON:0008907", - "UBERON:0012128", + "UBERON:0011249", + "UPHENO:0087846", + "UBERON:0001555", + "HP:0001939", + "UPHENO:0050845", + "BFO:0000001", + "UPHENO:0002371", + "HP:0006496", + "UPHENO:0081341", + "UBERON:0001434", + "HP:0009778", + "UPHENO:0049873", + "UBERON:0000153", + "UPHENO:0002647", + "HP:0011297", + "GO:0071704", + "GO:0009889", + "HP:0030680", + "UBERON:0000465", + "GO:0044238", + "UPHENO:0087547", + "GO:0008150", + "UBERON:0006866", + "UPHENO:0050116", + "GO:0050789", + "GO:0032501", + "UBERON:0013701", + "GO:0071840", + "HP:0002813", "HP:0002818", - "UBERON:0003460", - "UPHENO:0087510", - "UPHENO:0086633", - "UPHENO:0081792", - "UBERON:0003462", - "UBERON:0001423", + "HP:0040068", + "UPHENO:0002708", + "GO:0065007", + "GO:0008152", + "BFO:0000015", + "UPHENO:0049587", + "UBERON:0019231", + "UBERON:0002386", + "UBERON:0015021", + "UPHENO:0086635", + "HP:0000812", + "UPHENO:0002536", + "UPHENO:0076692", + "HP:0011017", + "NCBITaxon:33208", + "UPHENO:0080099", + "UBERON:0010741", + "HP:0006265", + "UPHENO:0078606", + "HP:0002023", + "HP:0034057", + "UPHENO:0081424", + "HP:0000079", + "GO:0048523", + "UBERON:0003135", "UPHENO:0084761", - "UBERON:0000153", - "UPHENO:0086201", - "UBERON:0002513", - "UPHENO:0085874", - "UPHENO:0080377", - "UBERON:0002495", - "UBERON:0010740", - "UBERON:0010758", - "UBERON:0010313", - "HP:0040064", - "UPHENO:0052778", - "UPHENO:0079872", - "UBERON:0010314", - "UPHENO:0085302", - "HP:0000347", - "UPHENO:0009382", - "UPHENO:0084763", - "UBERON:0002405", - "HP:0001000", - "UPHENO:0046540", - "UPHENO:0050845", - "UPHENO:0069249", - "UBERON:0010363", - "UPHENO:0076740", - "UPHENO:0069254", - "HP:0008069", - "UBERON:0004710", - "UBERON:0008785", - "UBERON:0001440", - "UPHENO:0049940", - "NCBITaxon:1", - "UPHENO:0008523", - "UPHENO:0087006", - "UBERON:0003606", + "UPHENO:0002649", + "UBERON:5006048", + "UBERON:0003133", + "CL:0000019", + "HP:0003026", + "GO:0060255", + "GO:0009890", + "GO:0010629", + "HP:0001626", "UPHENO:0050021", - "UPHENO:0002964", - "UBERON:0002544", - "UPHENO:0076941", - "UBERON:0015001", - "UBERON:0003103", + "GO:0071824", + "UBERON:0006058", + "GO:0048519", + "UPHENO:0085874", + "GO:0031324", + "UPHENO:0001001", + "HP:0002817", + "GO:0031327", + "HP:0002984", + "UBERON:0000062", + "UBERON:0001460", + "GO:0040007", + "UPHENO:0008668", "UPHENO:0068971", - "UBERON:0011156", - "UBERON:0004176", + "UBERON:0017716", + "GO:0019222", + "UPHENO:0076783", + "GO:0043933", + "UPHENO:0002896", + "RO:0002577", + "HP:0010461", + "UBERON:5002389", + "BFO:0000003", + "PR:000050567", + "GO:0010556", + "UBERON:0007272", + "UPHENO:0088142", + "BFO:0000020", + "UBERON:0012354", + "UPHENO:0087802", + "UPHENO:0086956", + "UBERON:0000475", + "UPHENO:0053644", + "UBERON:0002470", + "UPHENO:0081790", + "UBERON:0004375", + "UPHENO:0076810", + "HP:0005773", "UBERON:0002428", + "UBERON:0010740", + "UPHENO:0081792", + "HP:0000126", + "CL:0000300", + "HP:0000083", + "UPHENO:0005597", + "HP:0025354", + "UPHENO:0081433", + "UPHENO:0002442", + "UBERON:0002389", "UPHENO:0046538", + "UPHENO:0087349", + "UBERON:0000468", + "HP:0005922", + "UPHENO:0026183", + "UPHENO:0084771", + "UBERON:0005178", + "UPHENO:0049701", + "UPHENO:0081313", + "GO:0048232", + "UPHENO:0086172", + "UBERON:0000059", + "HP:0009115", + "GO:0031049", + "UBERON:0002075", + "GO:0006725", "UPHENO:0087501", - "UPHENO:0080187", - "UPHENO:0086045", - "UBERON:0001684", - "GO:0006259", - "OBI:0100026", - "HP:0009826", - "HP:0000812", - "HP:0009778", - "HP:0002984", - "UBERON:0002386", - "CL:0001035", - "UPHENO:0086635", - "HP:0040068", - "UPHENO:0087907", - "HP:0000581", - "HP:0000252", - "HP:0000414", - "HP:0045025", - "UBERON:0034921", - "UPHENO:0076692", - "UBERON:0004768", - "UBERON:0000073", - "HP:0002860", - "UBERON:0003278", - "UBERON:0002204", - "HP:0040072", - "UBERON:0002091", - "UPHENO:0087123", - "UBERON:0010538", - "UBERON:0003607", - "UPHENO:0087518", - "UPHENO:0076805", - "UBERON:0010703", - "UBERON:0011584", - "GO:0008150", - "UBERON:0015061", - "GO:0044237", - "HP:0001574", "UBERON:0011582", - "UPHENO:0081313", - "HP:0002973", - "UBERON:0006058", - "UPHENO:0018390", - "UBERON:0010708", - "HP:0006503", - "HP:0040195", - "HP:0009815", - "UBERON:0000479", - "UBERON:0004120", - "UPHENO:0050116", + "UPHENO:0052178", + "HP:0040072", + "UBERON:0010912", + "UPHENO:0026028", + "UPHENO:0063565", + "UPHENO:0080362", + "UPHENO:0086128", + "UBERON:0002398", + "UBERON:0009569", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0004535", + "UBERON:0003103", + "UBERON:0001009", + "UBERON:0000948", + "NCBITaxon:6072", + "UPHENO:0076776", + "UBERON:0000915", + "UBERON:0005181", + "UBERON:0015410", + "UPHENO:0076803", + "UPHENO:0002655", + "UBERON:0004489", "UBERON:0002471", - "UPHENO:0000543", - "UBERON:0010323", - "UPHENO:0076718", - "HP:0009115", - "HP:0002664", - "UPHENO:0020888", - "UPHENO:0046505", - "UPHENO:0076702", - "HP:0011961", - "UPHENO:0003811", - "HP:0000080", - "PR:000050567", - "HP:0011793", - "HP:0000951", - "HP:0002011", - "HP:0009121", - "UPHENO:0002910", - "NCBITaxon:33208", - "GO:0005623", - "HP:0025461", - "UPHENO:0004523", - "HP:0000085", - "UBERON:0019221", - "UPHENO:0087472", - "BFO:0000020", - "HP:0010987", + "UPHENO:0081755", + "UPHENO:0002816", "UBERON:0011143", - "UBERON:0013701", - "HP:0002817", + "UPHENO:0053580", + "GO:0006325", + "UPHENO:0063639", + "HP:0011844", + "HP:0001227", "UBERON:0034925", - "UPHENO:0049367", - "UPHENO:0022529", - "UPHENO:0086589", - "UPHENO:0015280", - "UBERON:0004111", - "UBERON:0000468", - "UPHENO:0052178", - "NCBITaxon:2759", - "UPHENO:0020041", - "HP:0031704", - "UPHENO:0085189", - "UBERON:0001017", - "UBERON:0002104", - "HP:0003221", - "BFO:0000004", - "UBERON:0000465", - "UBERON:0002097", - "HP:0007364", - "UPHENO:0002830", - "NCBITaxon:131567", - "UBERON:0015203", - "HP:0006501", - "HP:0100547", - "UPHENO:0053588", - "UPHENO:0005651", - "UBERON:0002102", - "HP:0000234", - "HP:0008050", + "HP:0001421", + "UPHENO:0002832", + "GO:0032502", + "UPHENO:0063632", + "HP:0003011", + "HP:0001446", + "UBERON:0000161", + "UPHENO:0084841", + "UBERON:0000383", "UBERON:0006048", - "UPHENO:0005433", - "UPHENO:0082682", - "BFO:0000002", - "NCBITaxon:6072", - "UPHENO:0085068", - "UPHENO:0087547", - "UPHENO:0012274", - "UBERON:0000062", - "UBERON:0007811", - "HP:0012145", - "GO:0031052", - "UBERON:0013702", - "UBERON:0007272", - "BFO:0000001", - "UPHENO:0075195", - "UPHENO:0002764", - "UBERON:0001442", + "UBERON:0007271", + "HP:0009127", + "UBERON:0007269", + "UBERON:0004480", + "UBERON:0004481", + "HP:0001245", + "HP:0004378", + "UPHENO:0046505", + "UPHENO:0086644", + "UPHENO:0079876", + "UBERON:0001007", + "HP:0011793", + "HP:0025033", + "HP:0011805", + "UPHENO:0086682", + "UBERON:0000025", + "UBERON:0034929", + "HP:0002250", + "HP:0009380", + "UPHENO:0074228", + "UBERON:0000990", + "UPHENO:0084448", + "UBERON:0001245", + "GO:0006807", + "UPHENO:0002839", + "HP:0025031", + "UBERON:0036295", + "UBERON:0004907", + "HP:0000924", + "UBERON:0004121", + "HP:0034915", + "UPHENO:0063599", + "GO:0031326", + "UPHENO:0065599", + "HP:0034058", + "UBERON:0000064", + "UBERON:0001008", + "UPHENO:0015280", + "GO:0016043", + "UPHENO:0075902", + "HP:0010946", + "UPHENO:0080382", + "GO:0048609", + "GO:0003006", + "UBERON:0001224", + "HP:0001197", + "UBERON:0000922", + "HP:0010945", + "UPHENO:0075949", "UPHENO:0002332", - "UPHENO:0002903", - "UPHENO:0076727", - "UBERON:0005177", - "UBERON:0002529", - "UBERON:0004765", - "UPHENO:0002598", - "CL:0000151", - "HP:0011297", - "UPHENO:0075696", - "UBERON:0010000", - "UPHENO:0088116", - "UBERON:0019231", - "GO:0031323", - "UBERON:0011249", - "UBERON:0012475", - "UBERON:0000481", - "UPHENO:0002536", - "UPHENO:0087846", - "UBERON:0001434", - "UPHENO:0049701", - "UPHENO:0053298", - "HP:0001877", - "UPHENO:0011498", - "HP:0011844", - "UBERON:0010912", - "HP:0012130", - "UBERON:0005881", - "GO:0048232", - "UPHENO:0081204", - "HP:0011821", - "HP:0003026", - "HP:0012443", - "HP:0012639", + "HP:0012874", + "UPHENO:0084132", + "UPHENO:0076718", + "UPHENO:0005651", + "HP:0003241", + "HP:0010935", + "UPHENO:0049940", + "HP:0000119", + "UBERON:0007100", "UPHENO:0005016", - "UPHENO:0076761", - "HP:0002692", - "HP:0000001", - "HP:0002813", - "UBERON:0001893", - "UPHENO:0076791", - "HP:0005927", - "HP:0006496", - "UBERON:0012139", - "UBERON:0003113", - "HP:0002715", - "UPHENO:0069294", - "UPHENO:0001002", - "UPHENO:0080662", - "UPHENO:0021791", - "UPHENO:0081786", - "HP:0006265", - "UBERON:0004121", - "UBERON:0000955", - "UBERON:0001968", - "UPHENO:0081451", - "PATO:0000001", - "UPHENO:0049874", - "CL:0000019", - "HP:0009821", - "UPHENO:0012541", - "UPHENO:0081435", - "UPHENO:0001001", - "UBERON:0000475", + "UBERON:0000323", + "UPHENO:0087427", + "HP:0034242", + "UBERON:8450002", + "UBERON:0000916", + "UBERON:0002417", + "UBERON:0005173", + "OBI:0100026", + "UPHENO:0001072", + "UBERON:0034923", + "UPHENO:0084834", + "UBERON:0004054", + "UBERON:0008962", + "UBERON:0001463", + "HP:0012210", + "UPHENO:0076779", + "UBERON:0010538", + "UPHENO:0001478", + "UBERON:0010712", + "HP:0000080", + "UPHENO:0077426", + "UBERON:0000079", + "UPHENO:0086201", + "UPHENO:0085873", + "CL:0000586", + "HP:0000028", + "UPHENO:0081423", + "UBERON:0008878", + "UBERON:0005409", + "HP:0001627", + "UPHENO:0049970", + "UPHENO:0003055", + "UBERON:0005156", + "GO:0000003", + "HP:0000811", + "HP:0012243", + "UPHENO:0085194", + "HP:0001172", + "HP:0002973", + "UBERON:0011676", + "HP:0000025", + "UPHENO:0049985", + "HP:0010944", + "HP:0001510", + "UPHENO:0086023", + "UPHENO:0080369", + "CL:0000408", + "GO:0007283", + "UBERON:0000481", + "UBERON:0004288", + "UPHENO:0002830", + "UBERON:0015228", + "CL:0000015", + "UPHENO:0002597", + "GO:0007276", + "UBERON:0000991", + "HP:0011024", + "UBERON:0011216", + "UBERON:0004175", + "UBERON:0004176", + "HP:0008669", + "UBERON:0003606", + "UPHENO:0021561", + "HP:0000035", + "HP:0004322", + "UPHENO:0087973", + "UPHENO:0086198", + "UBERON:0004122", + "UPHENO:0002595", + "CL:0000413", + "CL:0000039", + "GO:0050794", + "UPHENO:0085875", + "UBERON:0014793", + "HP:0009603", + "UBERON:0004111", + "UPHENO:0080377", + "HP:0000032", + "UPHENO:0078729", + "UBERON:0000463", + "UPHENO:0076735", "UPHENO:0078452", + "UPHENO:0053298", + "UBERON:0001052", + "UBERON:0005090", + "HP:0000078", + "HP:0012622", + "UBERON:0001968", + "UBERON:0005177", + "HP:0011277", + "UBERON:0000473", + "UBERON:0004053", + "UPHENO:0002598", + "UPHENO:0049367", + "UPHENO:0046411", + "UPHENO:0046707", + "HP:0009381", + "UPHENO:0011498", + "UBERON:0004381", + "UPHENO:0046624", + "HP:0009623", + "UBERON:0012361", + "HP:0004097", + "UPHENO:0050101", + "UBERON:0001353", + "HP:0009484", + "UPHENO:0084829", + "UPHENO:0080351", + "GO:0010468", + "UPHENO:0000541", "UBERON:0003466", - "UPHENO:0086049", - "UBERON:0002113", - "UBERON:0015021", - "UPHENO:0080099", - "UPHENO:0087089", - "HP:0000032", - "UBERON:0004288", - "HP:0002060", - "HP:0000118", - "UBERON:0000991", - "GO:0048519", - "UBERON:0034929", - "HP:0040070", - "UBERON:0002090", - "CL:0000000", - "UPHENO:0085195", - "UBERON:0011137", - "CL:0000255", - "UBERON:0010741", + "UPHENO:0069254", + "UPHENO:0076740", + "HP:0100871", "HP:0000002", - "HP:0011842", - "HP:0000929", - "UBERON:0000047", - "UBERON:0000061", - "HP:0005773", - "HP:0005105", - "UBERON:0004375", - "HP:0000707", - "BFO:0000003", - "UPHENO:0026181", - "UPHENO:0086595", - "HP:0200007", - "HP:0000152", - "UBERON:0001890", + "HP:0001507", + "UPHENO:0049874", + "UPHENO:0000543", + "UBERON:0013522", + "HP:0012211", + "UPHENO:0002411", + "HP:0003774", + "UPHENO:0076773", + "HP:0002589", + "UPHENO:0063629", + "HP:0011100", + "HP:0012732", + "NCBITaxon:1", + "UPHENO:0084124", + "UPHENO:0087346", + "HP:0009777", "UBERON:0004921", - "UBERON:0001456", - "UBERON:0011159", - "UBERON:0011216", - "UPHENO:0002844", - "NCBITaxon:33154", - "UPHENO:0002880", - "UBERON:0000467", - "UPHENO:0020584", - "UBERON:0001460", - "UBERON:0000466", - "UBERON:0000033", - "UPHENO:0080200", - "UBERON:0001062", - "HP:0025354", - "HP:0000027", - "UPHENO:0081566", - "BFO:0000015", - "UPHENO:0080079", - "UBERON:0000075", - "HP:0000492", - "UPHENO:0081466", - "UPHENO:0076703", - "HP:0001873", - "UPHENO:0076723", - "UBERON:0011138", - "UPHENO:0085070", - "UPHENO:0002751", - "UPHENO:0085118", - "UPHENO:0081423", - "UBERON:0010712", - "UPHENO:0054957", - "UPHENO:0001005", - "UBERON:0002101", - "UBERON:0000064", - "UPHENO:0001072", - "UBERON:0000025", - "UPHENO:0088186", - "UPHENO:0054567", - "BFO:0000040", - "UPHENO:0087924", - "HP:0003220", - "UBERON:0000026", - "UBERON:0008962", - "HP:0000125", - "UPHENO:0008668", - "UBERON:0005944", + "UBERON:0000160", + "HP:0002034", + "UPHENO:0002725", + "HP:0012718", + "HP:0025023", ], "has_phenotype_closure_label": [ - "Vitiligo", - "Ectopic kidney", - "abnormally localised kidney", + "rectum atresia", + "abnormal rectum", + "Abnormal intestine morphology", + "lower digestive tract", + "intestine", + "rectum", + "internal anal region", + "abnormal alimentary part of gastrointestinal system", + "Anorectal anomaly", + "Abnormality of the gastrointestinal tract", + "Morphological abnormality of the gastrointestinal tract", + "large intestine", + "subdivision of tube", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "Metazoa", + "Rectal atresia", + "abnormal alimentary part of gastrointestinal system morphology", + "Chronic kidney disease", + "Abnormal renal physiology", + "Renal insufficiency", + "Abnormality of the urinary system physiology", + "Intestinal atresia", + "non-functional kidney", + "growth", + "decreased height of the anatomical entity", + "digestive system element", + "Growth delay", + "decreased size of the multicellular organism", + "Abnormality of body height", + "Renal cyst", + "deviation of manual digit", + "intestine atresia", + "Proximal placement of thumb", + "Eukaryota", + "Eumetazoa", + "decreased length of manual digit", + "decreased length of manual digit 1", + "Short digit", + "Short finger", + "developmental process", + "reproductive process", + "abnormally localised testis", + "abnormal anatomical entity topology in independent continuant", + "abnormal male reproductive system morphology", + "Abnormality of male external genitalia", + "developmental process involved in reproduction", + "abnormally localised anatomical entity", + "abnormal reproductive system", + "absent gamete", + "sperm", + "male organism", + "reproductive structure", + "abnormal reproductive process", + "decreased qualitatively developmental process", + "testis", + "internal male genitalia", + "abnormal multicellular organismal reproductive process", "abnormal number of anatomical enitites of type sperm", + "Azoospermia", + "Abnormality of the male genitalia", + "male germ cell", + "abnormality of multicellular organism height", + "male gamete", + "abnormally localised anatomical entity in independent continuant", + "abnormal large intestine morphology", + "absent sperm in the independent continuant", + "organism substance", "semen", - "developmental process", + "abnormal male reproductive system", + "male reproductive system", "reproduction", - "Abnormal testis morphology", - "developmental process involved in reproduction", + "abnormal location of anatomical entity", + "abnormal developmental process involved in reproduction", + "decreased developmental process", + "reproductive organ", + "spermatogenesis", + "gamete generation", + "absent anatomical entity in the semen", + "abnormal gamete", + "abnormal number of anatomical enitites of type cell", + "external genitalia", + "internal genitalia", + "gonad", + "Abnormality of the genital system", + "abnormal internal genitalia", + "germ cell", + "Abnormality of reproductive system physiology", + "gamete", + "obsolete multicellular organism reproduction", + "absent sperm", + "abnormality of reproductive system physiology", + "abnormal spermatogenesis", + "changed biological_process rate", + "absent germ cell", + "abnormal renal system morphology", + "Abnormality of prenatal development or birth", + "multi-tissue structure", + "External genital hypoplasia", + "abnormally dilated anatomical entity", + "kidney", + "sexual reproduction", + "abnormal genitourinary system", + "increased size of the renal pelvis", + "late embryo", + "abnormal renal system", + "Abnormal renal morphology", + "embryo", + "renal pelvis", + "Abnormality of the kidney", + "renal pelvis/ureter", + "disconnected anatomical group", + "abdominal segment of trunk", + "abdomen", + "decreased length of digit", + "anatomical cluster", + "Abnormality of the upper urinary tract", + "renal system", + "Abnormal fetal genitourinary system morphology", + "organ part", + "increased size of the anatomical entity in independent continuant", + "Abnormal fetal morphology", + "Abnormal renal pelvis morphology", + "abnormally dilated renal pelvis", + "abnormal late embryo", + "Fetal pyelectasis", + "abnormal renal pelvis", + "abnormal renal pelvis morphology", + "abnormal external male genitalia", + "Fetal anomaly", + "upper urinary tract", + "Anal atresia", + "Dilatation of the renal pelvis", + "anus atresia", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "abnormal anus", + "abnormal closing of the anatomical entity", + "abnormal digestive system", + "deviation of manual digit 1", + "digestive tract", "multicellular organismal reproductive process", - "abnormal reproductive process", - "decreased qualitatively developmental process", - "absent anatomical entity in the semen", - "gamete generation", - "changed developmental process rate", - "abnormal male reproductive system morphology", - "spermatogenesis", - "absent sperm", - "abnormally localised testis", - "absent gamete", - "reproductive organ", - "abnormal gamete", - "decreased spermatogenesis", - "abnormal male reproductive system", - "obsolete multicellular organism reproduction", - "Azoospermia", - "Abnormality of the male genitalia", - "sperm", - "external genitalia", - "internal genitalia", - "gonad", - "abnormal reproductive system morphology", - "Abnormal spermatogenesis", - "abnormal internal genitalia", - "external male genitalia", - "Abnormality of the genital system", - "decreased qualitatively reproductive process", - "decreased developmental process", + "anatomical conduit", + "anus", + "abnormal digestive system morphology", + "Neoplasm by anatomical site", + "digestive system", + "abnormality of male reproductive system physiology", "abnormal developmental process", - "abnormality of internal male genitalia physiology", - "abnormal gamete generation", - "abnormal external genitalia", - "abnormal location of anatomical entity", - "abnormal developmental process involved in reproduction", + "tube", + "abnormal muscle organ morphology", + "musculature of upper limb", + "haploid cell", + "appendage musculature", + "musculature of body", + "Abnormality of the musculature of the upper limbs", + "cavitated compound organ", + "abnormal musculature of upper limb", + "Abnormality of the musculature of the limbs", + "Abnormality of the musculature of the hand", + "germ line cell", + "thenar eminence hypoplasia", + "Abnormal palm morphology", + "musculature", + "Abnormality of the thenar eminence", + "abnormal musculature of limb", + "Abnormal rectum morphology", + "Abnormal testis morphology", + "Abnormal skeletal muscle morphology", + "musculature of manus", + "abnormal musculature", + "abnormal heart morphology", + "Cryptorchidism", + "heart plus pericardium", + "Abnormal heart morphology", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "Fetal ultrasound soft marker", + "excretory system", + "circulatory system", + "body proper", + "abnormal cardiovascular system morphology", + "circulatory organ", + "viscus", + "Gastrointestinal atresia", + "trunk", + "limb endochondral element", + "subdivision of digestive tract", + "delayed biological_process", + "Short forearm", + "increased size of the anatomical entity", + "abnormal limb bone", + "limb bone", + "abnormal number of anatomical enitites of type anatomical entity", + "Deviation of the thumb", "Abnormal male reproductive system physiology", - "multicellular organismal process", - "decreased sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "Abnormal ear physiology", - "Hearing impairment", - "sensory perception of sound", - "Abnormality of the ear", - "abnormality of ear physiology", - "abnormality of anatomical entity physiology", - "abnormal sensory perception", - "Hearing abnormality", + "subdivision of organism along appendicular axis", + "radius bone hypoplasia", + "Functional abnormality of male internal genitalia", + "abnormal anatomical entity morphology in the pectoral complex", + "aplasia or hypoplasia of anatomical entity", + "abnormal appendicular skeleton morphology", + "endochondral element", + "pectoral appendage", + "Deviation of the hand or of fingers of the hand", + "abnormal primary metabolic process", + "Stage 5 chronic kidney disease", + "abnormal musculature of manus", + "mesoderm-derived structure", + "abnormal forelimb morphology", + "abnormal long bone morphology", + "forelimb zeugopod bone hypoplasia", + "anatomical entity hypoplasia in independent continuant", + "abnormality of internal male genitalia physiology", + "organism subdivision", + "Abnormality of the musculoskeletal system", + "Limb undergrowth", + "ectoderm-derived structure", + "structure with developmental contribution from neural crest", + "long bone", + "abnormal testis morphology", + "forelimb zeugopod", + "male reproductive organ", + "cellular component organization or biogenesis", + "multicellular anatomical structure", + "forelimb endochondral element", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "decreased length of anatomical entity in independent continuant", + "skeleton of pectoral complex", + "abnormal anus morphology", + "Abnormality of metabolism/homeostasis", + "musculature of limb", + "negative regulation of biosynthetic process", + "decreased length of forelimb zeugopod bone", + "orifice", + "DNA metabolic process", + "regulation of macromolecule biosynthetic process", + "alimentary part of gastrointestinal system", + "Abnormal reproductive system morphology", + "muscle organ", + "abnormal anatomical entity length", + "musculature of pectoral complex", + "thoracic cavity element", + "multicellular organism", + "absent anatomical entity in the multicellular organism", + "abnormal organelle organization", + "cellular organisms", + "Abnormality of the musculature", + "thoracic segment of trunk", + "abnormal digit", + "programmed DNA elimination", + "digit", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormality of anatomical entity height", + "bone of appendage girdle complex", + "metabolic process", + "multi-limb segment region", + "abnormal cellular process", + "root", + "appendage", + "Abnormal upper limb bone morphology", + "abnormality of kidney physiology", + "negative regulation of cellular biosynthetic process", + "Abnormal internal genitalia", + "regulation of cellular process", + "decreased height of the multicellular organism", + "Short long bone", + "male gamete generation", + "skeleton", + "Abnormal external genitalia", + "negative regulation of biological process", + "abnormal growth", + "independent continuant", + "abnormal intestine morphology", + "aplastic manual digit 1", + "reproductive system", + "organic cyclic compound metabolic process", + "segment of autopod", + "anal region", + "paired limb/fin skeleton", + "Growth abnormality", + "abnormal palmar part of manus morphology", + "programmed DNA elimination by chromosome breakage", + "regulation of gene expression", + "Small thenar eminence", + "obsolete cellular nitrogen compound metabolic process", + "organelle organization", + "Abnormal anus morphology", + "protein-DNA complex organization", + "arm", + "abnormal kidney", + "Abnormality of chromosome stability", + "abnormal manus", + "phenotype by ontology source", + "Abnormal thumb morphology", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "negative regulation of gene expression", + "Abnormality of the digestive system", + "regulation of macromolecule metabolic process", + "acropodium region", + "anatomical entity", + "palmar part of manus", + "Aplasia/hypoplasia involving the skeleton", + "Deviation of finger", + "negative regulation of metabolic process", + "alimentary part of gastrointestinal system atresia", + "cellular component organization", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abdominal segment element", + "abnormal thenar eminence", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "bone of pectoral complex", + "entity", + "subdivision of skeletal system", + "biological_process", + "Abnormal forearm bone morphology", + "Abnormality of the skeletal system", + "terminal part of digestive tract", + "absent anatomical entity in the limb", + "continuant", + "Abnormality of limbs", + "Short stature", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", + "anatomical entity hypoplasia", + "obsolete heterocycle metabolic process", + "non-functional anatomical entity", + "thoracic segment organ", + "aplasia or hypoplasia of radius bone", + "abnormal spatial pattern of anatomical entity", + "protein-containing complex organization", + "material entity", + "abdomen element", + "negative regulation of cellular metabolic process", + "appendicular skeletal system", + "anatomical structure", "decreased qualitatively biological_process", - "reproductive system", - "abnormal testis morphology", - "abnormal sensory perception of sound", - "sensory perception of mechanical stimulus", - "abnormal size of multicellular organism", - "decreased size of the multicellular organism", - "abnormality of anatomical entity height", - "Abnormality of body height", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", + "abnormal cellular component organization", + "upper limb segment", + "appendicular skeleton", + "subdivision of organism along main body axis", + "abnormal biological_process", + "abnormal cell", + "macromolecule metabolic process", + "appendage girdle complex", + "Abnormal long bone morphology", + "skeleton of limb", + "muscle structure", + "material anatomical entity", + "external male genitalia", + "chromatin organization", + "pectoral appendage musculature", + "abnormal metabolic process", + "abnormal forelimb zeugopod morphology", + "cellular metabolic process", + "Non-obstructive azoospermia", "biological regulation", - "metabolic process", - "cellular process", - "abnormal primary metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "primary metabolic process", - "organic substance metabolic process", - "regulation of cellular process", + "regulation of cellular biosynthetic process", + "forelimb zeugopod skeleton", + "abnormal limb morphology", "regulation of metabolic process", - "negative regulation of biological process", - "nucleobase-containing compound metabolic process", - "organic cyclic compound metabolic process", - "obsolete heterocycle metabolic process", - "cellular component organization", - "regulation of biosynthetic process", + "Abnormality of limb bone morphology", "regulation of cellular metabolic process", - "negative regulation of cellular process", - "protein-containing complex organization", - "regulation of gene expression", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "programmed DNA elimination", - "cellular metabolic process", - "obsolete cell", - "negative regulation of gene expression", + "abnormality of renal system physiology", + "quality", + "regulation of biological process", + "changed developmental process rate", + "lateral structure", + "abnormal anatomical entity morphology in the independent continuant", + "limb segment", + "abnormal anatomical entity morphology in the palmar part of manus", + "subdivision of trunk", + "abnormal phenotype by ontology source", + "absent manual digit", + "abnormal chromatin organization", "Chromosome breakage", - "regulation of cellular biosynthetic process", - "negative regulation of biosynthetic process", - "negative regulation of cellular metabolic process", - "DNA metabolic process", - "abnormal upper urinary tract", - "U-shaped anatomical entity", - "renal system", - "abnormal shape of continuant", - "Abnormality of the kidney", - "cavitated compound organ", - "abnormal ear", - "abdominal segment element", - "abdomen", - "abnormal kidney", - "concave 3-D shape anatomical entity", + "Hypoplasia of the radius", + "paired limb/fin", + "decreased size of the anatomical entity in the independent continuant", + "abnormal size of multicellular organism", + "bone element", + "All", + "anatomical collection", + "abnormal programmed DNA elimination by chromosome breakage", + "negative regulation of cellular process", + "decreased qualitatively reproductive process", "genitourinary system", - "excretory system", - "Horseshoe kidney", - "3-D shape anatomical entity", - "Abnormality of the genitourinary system", - "abnormal renal system", - "Abnormality of the upper urinary tract", - "kidney", - "Pelvic kidney", - "Abnormal localization of kidney", - "subdivision of trunk", - "abdomen element", - "shape anatomical entity in independent continuant", - "abnormal kidney morphology", - "Abnormality of the urinary system", - "Abnormal erythroid lineage cell morphology", - "abnormal erythroid lineage cell morphology", - "nucleic acid metabolic process", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "pigmentation", - "Hypermelanotic macule", - "reproductive process", - "abnormal pigmentation", - "increased pigmentation in independent continuant", - "Functional abnormality of male internal genitalia", - "increased biological_process in independent continuant", - "Hyperpigmentation of the skin", - "increased qualitatively biological_process in independent continuant", - "Abnormality of skin morphology", - "Cafe-au-lait spot", - "abnormal metabolic process", - "changed biological_process rate", - "abnormal pigmentation in independent continuant", - "increased qualitatively biological_process", - "abnormal skin of body morphology", - "changed biological_process rate in independent continuant", - "Localized skin lesion", - "abnormal multicellular organismal reproductive process", - "anatomical point", - "abnormally increased volume of anatomical entity", - "Bulbous nose", - "external nose", - "negative regulation of macromolecule metabolic process", - "abnormally increased volume of nose", - "abnormal nose morphology", - "Abnormal external nose morphology", - "abnormal cellular process", - "olfactory organ", - "Abnormality of male external genitalia", - "nose", - "increased size of the anatomical entity", - "abnormal nose tip morphology", - "Abnormality of the nose", - "Short finger", - "decreased length of manual digit", - "decreased length of manual digit 1", - "Short digit", - "decreased length of digit", - "bone element hypoplasia in face", - "subdivision of tube", - "digestive system", - "abnormal mandible morphology", - "obsolete cellular aromatic compound metabolic process", - "immaterial entity", - "dermal skeleton", - "primary subdivision of skull", - "abnormal external male genitalia", - "digestive tract", - "Abnormal jaw morphology", - "abnormal biological_process in independent continuant", - "Abnormality of the mouth", - "anatomical entity hypoplasia in face", - "organelle organization", - "dermal bone", - "jaw skeleton", - "facial bone", - "increased pigmentation", - "mandible", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "facial bone hypoplasia", - "Abnormality of digestive system morphology", - "aplasia or hypoplasia of mandible", - "head bone", - "dermal skeletal element", - "aplasia or hypoplasia of skull", - "subdivision of digestive tract", - "abnormal digestive system", - "jaw region", - "neural crest-derived structure", - "dentary", - "Abnormal facial skeleton morphology", "forelimb skeleton", - "abnormal head bone morphology", - "Abnormality of the digestive system", - "mouth", - "anatomical structure", - "Aplasia/Hypoplasia involving bones of the skull", - "dermatocranium", - "bone of jaw", - "skeleton of limb", - "intramembranous bone", - "bone of lower jaw", + "Abnormal cellular physiology", + "organic substance metabolic process", + "obsolete nitrogen compound metabolic process", + "abnormal upper urinary tract", + "musculoskeletal system", + "delayed growth", + "abnormal cardiovascular system", + "skeletal system", + "phenotype", + "nucleobase-containing compound metabolic process", + "absent digit", + "decreased length of long bone", + "primary metabolic process", + "skeletal element", + "zeugopod", "autopodial extension", - "Abnormal oral morphology", - "abnormal forebrain morphology", - "hematopoietic system", - "myeloid cell", - "erythroid lineage cell", - "blood cell", - "biogenic amine secreting cell", - "Blepharophimosis", - "leukocyte", - "abnormally decreased number of myeloid cell", - "system process", - "Neoplasm", - "abnormal bone marrow cell", - "Abnormal nasal morphology", - "abnormal anatomical entity length", - "abnormal number of anatomical enitites of type cell", - "cranial skeletal system", - "abnormally decreased number of cell", - "abnormal nitrogen compound metabolic process", - "abnormal immune system", - "oxygen accumulating cell", - "hemolymphoid system", - "Decreased head circumference", - "hematopoietic cell", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", - "abnormal bone marrow cell morphology", - "decreased biological_process", - "serotonin secreting cell", - "abnormal craniocervical region morphology", - "Thrombocytopenia", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type myeloid cell", - "tissue", - "Abnormality of the immune system", + "bone element hypoplasia in independent continuant", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "process", + "nucleic acid metabolic process", + "aplasia or hypoplasia of skeleton", + "forelimb", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal large intestine morphology", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "arm bone", + "abnormal rectum morphology", + "abnormal limb long bone morphology", + "manual digit plus metapodial segment", + "abnormal limb bone morphology", + "radius endochondral element", + "Abnormality of digestive system morphology", + "thenar eminence", + "manus", + "abnormal limb", + "compound organ", + "zeugopodial skeleton", + "obsolete cell", + "limb long bone", + "Abnormality of the urinary system", "forelimb bone", - "Abnormality of thrombocytes", - "obsolete cellular nitrogen compound metabolic process", - "Micrognathia", - "phenotype by ontology source", + "abnormal radius bone morphology", + "system", + "aplasia or hypoplasia of manual digit 1", + "Abnormality of the anus", + "organ system subdivision", + "abnormal gamete generation", + "Abnormal morphology of the radius", + "manual digit", + "Abnormal appendicular skeleton morphology", + "decreased size of the anatomical entity", + "Forearm undergrowth", + "palmar/plantar part of autopod", + "external soft tissue zone", + "Abnormality of limb bone", + "abnormal arm", + "absent anatomical entity in the forelimb", + "occurrent", + "organ", + "heart", + "abnormal manual digit morphology in the manus", + "abnormal DNA metabolic process", + "radius bone", + "deviation of anatomical entity", + "multicellular organismal process", + "obsolete cellular aromatic compound metabolic process", + "Aplasia/hypoplasia involving forearm bones", + "forelimb long bone", + "absent sperm in the semen", + "Hydronephrosis", + "decreased length of anatomical entity", + "Abnormality of cardiovascular system morphology", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "limb", "cell", - "Short long bone", - "abnormal blood cell", - "shape kidney", - "Abnormal forearm morphology", - "abnormally decreased number of anatomical entity", - "abnormal platelet", - "Abnormal external genitalia", - "Abnormal leukocyte count", - "male reproductive system", - "limb bone", - "abnormal cell morphology", - "growth", - "Abnormal myeloid cell morphology", - "increased size of the anatomical entity in independent continuant", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "abnormal forelimb zeugopod bone", + "Upper limb undergrowth", + "limb skeleton subdivision", + "trunk region element", + "pectoral complex", + "Opisthokonta", + "paired limb/fin segment", + "Abnormal cellular phenotype", + "decreased size of the radius bone", + "abnormal skeletal system", + "forelimb zeugopod bone", "subdivision of skeleton", - "protein-containing material entity", - "biological_process", + "endochondral bone", + "Aplasia/Hypoplasia of the radius", "abnormal anatomical entity", - "paired limb/fin", - "motile cell", - "visual system", - "abnormal mouth morphology", - "absent anatomical entity in the limb", - "Abnormality of the palpebral fissures", - "abnormal size of palpebral fissure", - "eye", - "orbital region", - "abnormality of male reproductive system physiology", - "abnormal ocular adnexa", - "ear", - "Abnormal nasal tip morphology", - "Neoplasm by anatomical site", - "Abnormality of the ocular adnexa", - "abnormal ocular adnexa morphology", - "subdivision of head", - "entire sense organ system", - "Abnormal cellular phenotype", - "Abnormality of the orbital region", - "bone of craniocervical region", - "abnormal eyelid morphology", - "disconnected anatomical group", - "absent anatomical entity in the forelimb", - "abnormal skin of body", - "palpebral fissure", - "decreased length of palpebral fissure", - "camera-type eye", - "Abnormal ocular adnexa morphology", - "Abnormal size of the palpebral fissures", - "bone of appendage girdle complex", - "Narrow palpebral fissure", - "aplastic anatomical entity", - "abnormal face", - "Abnormality of metabolism/homeostasis", - "decreased width of the anatomical entity in independent continuant", - "autopodial skeleton", - "Irregular hyperpigmentation", - "delayed biological_process", + "Abnormal forearm morphology", + "abnormal external genitalia", + "abnormal size of anatomical entity", + "anatomical system", + "digit 1", + "aplasia or hypoplasia of manual digit", + "organism", + "autopod region", + "skeleton of manus", + "cardiovascular system", + "manual digitopodium region", "abnormal anatomical entity morphology in the manus", - "abnormal limb bone morphology", - "erythrocyte", - "cellular component organization or biogenesis", - "Phenotypic abnormality", - "Abnormality of the face", - "abnormal digit morphology", - "central nervous system", + "agenesis of anatomical entity", + "Abnormality of the hand", + "abnormal autopod region morphology", + "bone of free limb or fin", + "Absent thumb", + "anterior region of body", + "aplastic anatomical entity", + "Aplasia/hypoplasia involving bones of the extremities", + "manual digit 1", + "protein-containing material entity", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "cellular process", + "Abnormal digit morphology", "absent anatomical entity", - "abnormal orbital region", - "orifice", - "bone marrow cell", - "abnormal manus", - "Cryptorchidism", - "abnormally localised anatomical entity", - "non-connected functional system", - "abnormal leukocyte morphology", - "abnormal cellular metabolic process", - "acropodium region", + "Short thumb", + "abnormal manual digit 1 morphology", + "digit 1 plus metapodial segment", + "abnormal digit morphology", + "digit plus metapodial segment", + "Abnormal finger morphology", + "abnormal male reproductive organ morphology", + "autopodial skeleton", "Finger aplasia", - "digitopodium region", - "Abnormal internal genitalia", - "decreased width of the palpebral fissure", - "germ cell", - "abnormal spermatogenesis", - "abnormal anatomical entity morphology in the independent continuant", - "segment of manus", - "increased pigmentation in skin of body", - "manual digit 1", - "anatomical conduit", - "Upper limb undergrowth", - "aplasia or hypoplasia of manual digit 1", - "mandible hypoplasia", - "skeleton of manus", - "abnormal programmed DNA elimination by chromosome breakage", - "Abnormality of brain morphology", - "Abnormal leukocyte morphology", - "skeleton", + "manual digit 1 plus metapodial segment", + "Neoplasm", + "manual digit 1 or 5", + "pectoral appendage skeleton", + "abnormal manus morphology", + "primary circulatory organ", + "digit 1 or 5", + "Aplasia/Hypoplasia of the thumb", + "regulation of biosynthetic process", + "absent anatomical entity in the independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Abnormal spermatogenesis", + "Abnormal hand morphology", + "decreased spermatogenesis", + "abnormal kidney morphology", + "main body axis", + ], + "has_phenotype_count": 15, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0013499", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group P", + "full_name": None, + "deprecated": None, + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.", + "xref": ["DOID:0111092", "GARD:15731", "OMIM:613951"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": [ + "FANCP", + "Fanconi Anemia, complementation group type P", + "Fanconi anaemia caused by mutation in SLX4", + "Fanconi anaemia caused by mutation in Slx4", + "Fanconi anaemia complementation group type P", + "Fanconi anemia caused by mutation in SLX4", + "Fanconi anemia caused by mutation in Slx4", + "Fanconi anemia complementation group type P", + "Fanconi anemia, complementation group P", + "SLX4 Fanconi anaemia", + "SLX4 Fanconi anemia", + "Slx4 Fanconi anaemia", + "Slx4 Fanconi anemia", + ], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0002984", + "HP:0009777", + "HP:0000957", + "HP:0000252", + "HP:0002860", + "HP:0001510", + "HP:0000581", + "HP:0001876", + "HP:0000347", + "HP:0009778", + "HP:0000414", + "HP:0001903", + "HP:0012745", + "HP:0000085", + "HP:0003221", + "HP:0004322", + "HP:0000365", + "HP:0000028", + "HP:0000125", + "HP:0001045", + ], + "has_phenotype_label": [ + "Hypoplasia of the radius", "Absent thumb", - "Abnormality of skull size", - "Abnormal digit morphology", - "bone element", - "abnormal cell", - "abnormal manual digit morphology in the manus", - "aplasia or hypoplasia of manual digit", - "ocular adnexa", - "Abnormality of reproductive system physiology", - "abnormal platelet morphology", - "digit plus metapodial segment", - "abnormally decreased number of platelet", - "Abnormal platelet morphology", - "Aplasia/hypoplasia involving bones of the hand", - "manual digitopodium region", - "radius endochondral element", - "abnormal immune system morphology", - "Forearm undergrowth", - "Aplasia/Hypoplasia of fingers", - "regulation of biological process", - "Abnormal thumb morphology", - "abnormal reproductive system", - "reproductive structure", - "male reproductive organ", - "manual digit 1 or 5", - "Abnormal hand morphology", - "abnormal manual digit morphology in the independent continuant", - "abnormal digit", - "absent manual digit", - "digit 1 or 5", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormality of the hand", - "subdivision of organism along main body axis", - "Aplasia/Hypoplasia of the thumb", - "agenesis of anatomical entity", - "absent digit", - "absent anatomical entity in the independent continuant", - "subdivision of organism along appendicular axis", - "abnormal DNA metabolic process", - "abnormal chromatin organization", - "decreased size of the mandible", - "forelimb", - "Aplasia/Hypoplasia of facial bones", + "Cafe-au-lait spot", + "Microcephaly", + "Squamous cell carcinoma", + "Growth delay", + "Blepharophimosis", + "Pancytopenia", + "Micrognathia", + "Short thumb", + "Bulbous nose", + "Anemia", + "Short palpebral fissure", + "Horseshoe kidney", + "Chromosomal breakage induced by crosslinking agents", + "Short stature", + "Hearing impairment", + "Cryptorchidism", + "Pelvic kidney", + "Vitiligo", + ], + "has_phenotype_closure": [ + "HP:0000086", + "GO:0022414", + "UPHENO:0053580", + "UPHENO:0005597", + "UPHENO:0049367", + "UPHENO:0002598", + "UBERON:0004054", + "UBERON:0000473", + 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"UBERON:0008907", + "HP:0012210", + "UPHENO:0087427", + "UPHENO:0050113", + "GO:0008152", + ], + "has_phenotype_closure_label": [ + "Pelvic kidney", + "Ectopic kidney", + "reproductive process", + "Abnormal testis morphology", + "abnormal male reproductive system morphology", + "Abnormality of male external genitalia", + "Abnormal male reproductive system physiology", "male gamete generation", - "zeugopodial skeleton", - "Abnormal appendicular skeleton morphology", - "decreased height of the anatomical entity", - "Hypoplastic facial bones", - "haploid cell", - "Abnormal renal morphology", - "Abnormality of limbs", - "increased biological_process", - "abnormal central nervous system morphology", - "root", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal nervous system", - "male germ cell", - "lateral structure", - "limb", - "multi-limb segment region", - "abnormal renal system morphology", - "Growth abnormality", - "abnormal facial skeleton morphology", - "nervous system", - "eukaryotic cell", - "increased biological_process in skin of body", - "abnormal growth", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "Abnormal nervous system morphology", - "forelimb zeugopod", - "Abnormal morphology of the radius", - "bone of free limb or fin", - "decreased size of the anatomical entity in the independent continuant", - "abnormal limb", "sexual reproduction", - "anucleate cell", - "abnormal limb morphology", - "bone element hypoplasia in independent continuant", - "abnormal hematopoietic cell morphology", + "developmental process involved in reproduction", + "multicellular organismal reproductive process", + "decreased developmental process", + "absent gamete", + "sperm", + "reproductive structure", + "decreased qualitatively developmental process", + "decreased spermatogenesis", + "external male genitalia", + "testis", + "Abnormal reproductive system morphology", + "Azoospermia", + "male germ cell", + "male gamete", + "abnormally localised anatomical entity in independent continuant", + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "Abnormal external genitalia", + "organism substance", + "semen", + "reproduction", + "abnormal testis morphology", + "abnormal number of anatomical enitites of type sperm", + "male reproductive system", + "abnormal location of anatomical entity", + "spermatogenesis", + "absent anatomical entity in the semen", + "abnormal developmental process involved in reproduction", + "Functional abnormality of male internal genitalia", + "abnormal gamete", + "Abnormality of reproductive system physiology", + "haploid cell", + "reproductive system", + "Cryptorchidism", + "external genitalia", + "internal genitalia", + "gonad", + "abnormal reproductive system morphology", + "abnormal internal genitalia", + "germ cell", + "gamete", + "abnormality of reproductive system physiology", "absent germ cell", + "decreased qualitatively sensory perception of mechanical stimulus", + "abnormal developmental process", + "sensory perception", + "decreased sensory perception of sound", + "abnormal sensory perception", + "Hearing abnormality", + "abnormality of anatomical entity physiology", + "ear", + "multicellular organismal process", + "sensory perception of sound", + "system process", + "abnormal anatomical entity topology in independent continuant", + "decreased qualitatively sensory perception of sound", + "Short stature", + "abnormal size of multicellular organism", + "decreased height of the multicellular organism", + "abnormality of multicellular organism height", + "abnormal primary metabolic process", + "Abnormality of metabolism/homeostasis", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", "vestibulo-auditory system", - "forelimb endochondral element", - "abnormal forelimb zeugopod bone", - "abnormal forelimb zeugopod morphology", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "Abnormality of the upper limb", - "abnormal number of anatomical enitites of type hematopoietic cell", - "entity", - "abnormal long bone morphology", - "abnormal myeloid cell morphology", - "Abnormal forearm bone morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "anatomical collection", - "Abnormality of multiple cell lineages in the bone marrow", - "skeleton of pectoral complex", - "Abnormality of the nervous system", + "protein-DNA complex organization", + "nervous system process", + "abnormal nitrogen compound metabolic process", + "abnormal organelle organization", + "abnormal reproductive process", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "regulation of cellular metabolic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process", + "protein-containing complex organization", + "regulation of biological process", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", + "cellular metabolic process", "abnormal cellular component organization", - "appendicular skeletal system", - "Aplasia/hypoplasia involving forearm bones", - "tube", - "sensory perception", - "abnormal digestive system morphology", - "decreased length of anatomical entity", - "forelimb zeugopod bone hypoplasia", - "Short palpebral fissure", - "abnormal anatomical entity morphology in the brain", - "zeugopod", - "Aplasia/Hypoplasia of the radius", - "Growth delay", - "simple eye", - "shape anatomical entity", - "abnormal head", + "Chromosome breakage", + "negative regulation of gene expression", + "abnormal metabolic process", + "Chromosomal breakage induced by crosslinking agents", + "metabolic process", + "cellular process", + "abnormal DNA metabolic process", + "Abnormality of head or neck", + "craniocervical region", + "regional part of brain", + "aplasia or hypoplasia of telencephalon", + "Aplasia/Hypoplasia involving the central nervous system", + "facial bone hypoplasia", + "abnormal external genitalia", + "Abnormal renal morphology", "regional part of nervous system", - "digit 1", - "trunk", - "digit 1 plus metapodial segment", - "nose tip", - "skeletal element", - "Abnormality of the head", - "Abnormal upper limb bone morphology", - "endochondral bone", - "abnormal mouth", - "decreased length of anatomical entity in independent continuant", + "abnormal external male genitalia", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "visual system", + "Abnormal skull morphology", + "Abnormal cellular immune system morphology", + "Abnormal cerebral morphology", "arm bone", + "main body axis", + "abnormal kidney morphology", + "Narrow palpebral fissure", + "renal system", + "multi-tissue structure", + "axial skeleton plus cranial skeleton", + "abnormality of internal male genitalia physiology", + "Abnormality of the nervous system", + "sensory system", + "abnormal nervous system", + "organic substance metabolic process", + "Abnormality of the head", + "abnormal pigmentation", + "pigmentation", + "decreased length of forelimb zeugopod bone", + "changed biological_process rate in independent continuant", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "Abnormality of skin pigmentation", + "skeleton of limb", + "neural crest-derived structure", + "aplasia or hypoplasia of skull", + "increased qualitatively biological_process", + "anatomical collection", + "All", + "increased biological_process in skin of body", + "abnormally increased volume of nose", + "increased biological_process", + "abnormal myeloid cell morphology", + "increased pigmentation in independent continuant", + "Abnormal oral morphology", + "abnormal anatomical entity morphology", + "increased pigmentation", + "increased qualitatively biological_process in independent continuant", + "absent sperm", + "limb segment", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "Cafe-au-lait spot", + "primary subdivision of skull", + "obsolete cellular nitrogen compound metabolic process", + "abnormal integument", + "biological_process", + "obsolete multicellular organism reproduction", + "cellular organisms", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "Abnormality of chromosome stability", + "immaterial entity", + "abnormally localised testis", + "absent anatomical entity in the independent continuant", + "Aplasia/Hypoplasia of the thumb", + "bone cell", + "Abnormal myeloid cell morphology", "abnormal manus morphology", - "primary subdivision of cranial skeletal system", - "forelimb long bone", - "quality", - "forelimb zeugopod bone", - "radius bone", - "radius bone hypoplasia", - "abnormal male reproductive organ morphology", + "Neoplasm", + "digit", + "Hyperpigmentation of the skin", + "abnormal manual digit 1 morphology", + "Short thumb", + "integumental system", + "absent anatomical entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "gamete generation", + "protein-containing material entity", + "abnormal skeletal system morphology", + "Abnormal digit morphology", + "abnormal immune system morphology", + "Absent thumb", + "abnormal autopod region morphology", + "agenesis of anatomical entity", + "ectoderm-derived structure", + "abnormal anatomical entity morphology in the manus", + "abnormal facial skeleton morphology", + "negative regulation of cellular process", + "abnormal limb", "bone marrow", - "secretory cell", - "arm", - "immune system", - "face", + "skeleton of manus", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "organism", + "Neoplasm of the skin", + "anatomical system", + "segment of autopod", + "organic cyclic compound metabolic process", + "aplastic manual digit 1", + "dentary", + "independent continuant", + "abnormal growth", + "abnormal leukocyte morphology", + "abnormal size of anatomical entity", + "material anatomical entity", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", "manual digit plus metapodial segment", - "Microcephaly", - "abnormal craniocervical region", - "limb skeleton subdivision", - "Short forearm", - "anatomical entity hypoplasia in independent continuant", - "Short stature", + "Abnormal forearm morphology", + "abnormal anatomical entity", + "decreased size of the anatomical entity in the independent continuant", + "abnormal cellular process", + "secretory cell", + "Abnormal nervous system morphology", + "abnormal limb bone", + "sense organ", + "bone element", + "anatomical conduit", + "abnormal limb morphology", + "forelimb zeugopod skeleton", + "facial skeleton", + "paired limb/fin", + "Hypoplasia of the radius", + "abnormal head morphology", + "abnormal multicellular organismal reproductive process", + "manual digit", + "U-shaped anatomical entity", + "multi-limb segment region", + "endochondral element", + "Forearm undergrowth", + "abnormal biological_process in independent continuant", + "decreased size of the anatomical entity", + "skeletal element", + "zeugopod", + "body proper", + "central nervous system", "Abnormality of limb bone", - "axial skeletal system", - "Abnormal mandible morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "negative regulation of metabolic process", + "head", + "digit plus metapodial segment", + "external soft tissue zone", + "abnormal skin of body morphology", + "increased biological_process in independent continuant", + "increased size of the anatomical entity", + "limb", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "trunk region element", + "Abnormality of skin morphology", "abnormal camera-type eye morphology", - "compound organ", - "autopod region", - "abnormally localised anatomical entity in independent continuant", - "musculoskeletal system", - "decreased size of the anatomical entity", - "Limb undergrowth", - "abnormal nose", - "long bone", - "Abnormal cellular physiology", + "zeugopodial skeleton", + "limb long bone", + "Short forearm", + "delayed biological_process", + "subdivision of digestive tract", + "limb endochondral element", "Macule", - "Aplasia/Hypoplasia of the mandible", - "abnormal biological_process", - "multi-tissue structure", - "skin of body", - "Eumetazoa", - "segment of autopod", - "abnormal appendicular skeleton morphology", + "negative regulation of biosynthetic process", + "long bone", + "material entity", + "decreased width of the palpebral fissure", + "Abnormal appendicular skeleton morphology", + "Abnormal skeletal morphology", + "Abnormal forebrain morphology", + "forelimb", + "decreased size of the anatomical entity in the pectoral complex", + "autopodial skeleton", + "Abnormal facial skeleton morphology", + "Aplasia/hypoplasia of the extremities", + "decreased qualitatively reproductive process", + "Hypoplastic facial bones", + "Aplasia/hypoplasia involving bones of the hand", + "negative regulation of macromolecule biosynthetic process", + "germ line cell", + "bone element hypoplasia in independent continuant", + "abnormal gamete generation", + "leukocyte", + "abnormal skin of body", + "Abnormality of bone marrow cell morphology", + "abnormal cellular metabolic process", + "Aplasia/Hypoplasia of facial bones", + "musculoskeletal system", + "absent digit", + "phenotype", + "Abnormal cell morphology", + "quality", + "anatomical entity hypoplasia", + "forelimb bone", + "Morphological central nervous system abnormality", + "Abnormality of the urinary system", + "forelimb skeleton", + "genitourinary system", + "primary metabolic process", + "Abnormality of the skin", + "forelimb endochondral element", "abnormal number of anatomical enitites of type anatomical entity", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "limb bone", + "abnormal craniocervical region morphology", + "continuant", + "lateral structure", "integument", - "integumental system", + "skeleton of pectoral complex", + "decreased length of anatomical entity in independent continuant", "paired limb/fin segment", - "Abnormality of the integument", - "immaterial anatomical entity", - "abnormal jaw skeleton morphology", - "endochondral element", + "compound organ", + "eye", + "skeleton", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "Abnormal finger morphology", + "Abnormal erythrocyte morphology", + "forelimb zeugopod", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "appendage", + "root", + "subdivision of skeleton", + "Aplasia/Hypoplasia of the radius", + "endochondral bone", + "paired limb/fin skeleton", + "abnormal spermatogenesis", + "organelle organization", + "postcranial axial skeletal system", + "abnormal digit morphology", "skeleton of lower jaw", - "abnormal radius bone morphology", - "manual digit", - "Neoplasm of the skin", - "abnormal number of anatomical enitites of type leukocyte", - "regulation of macromolecule metabolic process", - "continuant", - "aplastic manual digit 1", - "abnormal limb long bone morphology", - "abnormally decreased number of hematopoietic cell", - "absent sperm in the semen", - "decreased qualitatively sensory perception of sound", - "abnormal palpebral fissure", - "Eukaryota", - "forebrain", - "Abnormal skull morphology", - "process", - "organ system subdivision", - "testis", - "craniocervical region", - "Abnormal cell morphology", - "manus", - "Abnormal forebrain morphology", - "male organism", - "Aplasia/Hypoplasia of the cerebrum", - "abnormal skull morphology", - "Abnormal reproductive system morphology", - "Pancytopenia", - "Morphological central nervous system abnormality", - "facial skeleton", + "subdivision of organism along appendicular axis", "skull", - "decreased size of the radius bone", - "membrane bone", - "absent sperm in the independent continuant", - "internal male genitalia", - "occurrent", - "abnormal skeletal system morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "phenotype", - "decreased length of long bone", + "limb skeleton subdivision", + "abnormal forelimb zeugopod bone", + "Abnormal ocular adnexa morphology", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "decreased length of anatomical entity", + "bone of pectoral complex", + "entity", + "subdivision of skeletal system", + "nervous system", + "forelimb zeugopod bone", + "Abnormality of brain morphology", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", + "forelimb zeugopod bone hypoplasia", + "abnormal limb bone morphology", + "abnormal phenotype by ontology source", + "decreased size of the mandible", + "absent manual digit", + "abnormal radius bone morphology", + "organ system subdivision", + "decreased length of palpebral fissure", + "abnormal blood cell", + "erythrocyte", "Abnormality of limb bone morphology", - "external soft tissue zone", - "Abnormal skeletal morphology", - "axial skeleton plus cranial skeleton", - "decreased width of the anatomical entity", - "abnormal forelimb morphology", - "Abnormal platelet count", - "lower jaw region", - "limb endochondral element", + "Abnormality of limbs", + "membrane bone", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "system", + "bone marrow cell", + "appendicular skeletal system", + "Abnormal nasal morphology", + "absent anatomical entity in the multicellular organism", + "hematopoietic system", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively biological_process", "anatomical entity", + "bone of appendage girdle complex", + "abnormal anatomical entity morphology in the pectoral complex", + "decreased biological_process", + "radius bone hypoplasia", + "aplasia or hypoplasia of anatomical entity", + "absent sperm in the semen", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "Abnormal forearm bone morphology", + "abnormal pigmentation in independent continuant", + "Abnormality of the ocular adnexa", + "abnormally localised anatomical entity", + "Micrognathia", + "Microcephaly", + "Abnormality of the musculoskeletal system", + "abnormality of ear physiology", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "Abnormality of digestive system morphology", + "abnormal number of anatomical enitites of type myeloid cell", "abnormal arm", - "Abnormality of the skin", - "abnormal telencephalon morphology", - "main body axis", - "aplasia or hypoplasia of radius bone", - "cellular organisms", - "aplasia or hypoplasia of telencephalon", - "abnormal brain morphology", - "abnormal limb bone", - "abnormal anatomical entity morphology", - "digestive system element", - "abnormal size of anatomical entity", - "germ line cell", - "Short thumb", - "bone cell", - "abnormal autopod region morphology", - "programmed DNA elimination by chromosome breakage", + "radius endochondral element", + "Aplasia/hypoplasia involving forearm bones", + "abnormal nose tip morphology", + "obsolete cellular aromatic compound metabolic process", "organism subdivision", - "abnormal bone marrow morphology", + "organ", + "abnormal male reproductive organ morphology", + "occurrent", + "skeletal system", + "motile cell", + "upper limb segment", + "appendicular skeleton", + "abnormal upper urinary tract", + "Limb undergrowth", + "abnormal face morphology", + "arm", + "abnormal nose morphology", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "decreased size of the radius bone", + "Abnormal cellular phenotype", + "subdivision of trunk", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "bone of lower jaw", + "mandible hypoplasia", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "abnormal mouth", + "male organism", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "digit 1 plus metapodial segment", + "abnormal skeletal system", + "subdivision of head", + "appendage girdle complex", "macromolecule metabolic process", + "manual digit 1", + "regulation of metabolic process", + "autopodial extension", + "abnormal face", + "abnormal telencephalon morphology", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "tissue", + "forelimb long bone", + "abnormal size of skull", + "cell", + "Abnormality of the mouth", + "Eumetazoa", + "negative regulation of cellular metabolic process", + "Eukaryota", + "decreased length of manual digit", + "abnormal central nervous system morphology", + "abnormal reproductive system", + "abnormal kidney", + "abnormal forebrain morphology", + "abnormal nervous system morphology", + "abnormal cell morphology", + "telencephalon", + "forebrain", + "blood cell", + "head bone", + "Abnormality of the genitourinary system", + "cranial skeletal system", + "postcranial axial skeleton", + "Decreased head circumference", + "pectoral complex", + "dermatocranium", + "Abnormal axial skeleton morphology", + "erythroid lineage cell", + "obsolete heterocycle metabolic process", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", + "mesoderm-derived structure", "Squamous cell carcinoma", - "bone of pectoral complex", "delayed growth", - "organism", - "obsolete nitrogen compound metabolic process", - "platelet", - "abdominal segment of trunk", - "digit", - "Abnormality of the skeletal system", - "3-D shape anatomical entity in independent continuant", - "anatomical system", - "aplasia or hypoplasia of anatomical entity", - "Abnormality of bone marrow cell morphology", - "abnormal anatomical entity topology in independent continuant", - "limb segment", - "appendage girdle complex", - "Abnormal axial skeleton morphology", - "appendicular skeleton", - "All", - "organism substance", - "Aplasia/Hypoplasia involving the central nervous system", - "protein-DNA complex organization", - "organ", - "paired limb/fin skeleton", - "postcranial axial skeletal system", - "trunk region element", - "pectoral complex", - "abnormal size of skull", - "Abnormality of the musculoskeletal system", - "chromatin organization", - "sensory system", - "upper urinary tract", - "skeletal system", + "axial skeletal system", + "Growth abnormality", + "aplasia or hypoplasia of manual digit", + "face", + "abnormal orbital region", + "Abnormal localization of kidney", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", + "kidney", + "abnormal biological_process", + "Growth delay", + "digestive system element", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "decreased width of the anatomical entity", + "Abnormality of the upper urinary tract", + "Vitiligo", + "acropodium region", + "Short palpebral fissure", + "Abnormal eyelid morphology", "multi organ part structure", - "structure with developmental contribution from neural crest", - "Abnormal long bone morphology", - "Non-obstructive azoospermia", - "absent anatomical entity in the multicellular organism", - "anterior region of body", - "abnormal anatomical entity morphology in the pectoral complex", - "decreased length of forelimb zeugopod bone", - "Aplasia/hypoplasia of the extremities", - "Abnormal cellular immune system morphology", - "subdivision of skeletal system", - "sense organ", - "abnormal external nose morphology", - "telencephalon", - "manual digit 1 plus metapodial segment", - "abnormal postcranial axial skeleton morphology", - "abnormal number of anatomical enitites of type platelet", - "limb long bone", + "hemolymphoid system", + "organ part", + "Abnormality of the orbital region", + "Abnormal size of the palpebral fissures", + "non-connected functional system", + "orbital region", + "camera-type eye", + "Abnormality of the hand", + "radius bone", "Anemia", - "Hypoplasia of the radius", - "Opisthokonta", - "brain", - "upper limb segment", - "Abnormal cerebral morphology", - "postcranial axial skeleton", - "abnormal organelle organization", - "abnormal head morphology", - "head", - "abnormal integument", - "pectoral appendage", - "Metazoa", + "palpebral fissure", + "Abnormality of the ear", + "eyelid", + "Blepharophimosis", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "abdomen element", + "reproductive organ", + "Short long bone", + "abnormal skull morphology", + "abnormal palpebral fissure", + "Abnormal mandible morphology", + "abnormally decreased number of cell", + "abnormal size of palpebral fissure", + "Non-obstructive azoospermia", + "abnormal ocular adnexa", + "abnormal bone of pectoral complex morphology", + "orifice", + "ocular adnexa", + "simple eye", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "manus", + "abnormal eyelid morphology", + "decreased height of the anatomical entity", + "regulation of cellular process", + "Abnormality of the face", + "phenotype by ontology source", + "abnormal ocular adnexa morphology", + "Abnormality of the palpebral fissures", + "abnormal hematopoietic system", + "Abnormality of the immune system", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "abnormal limb long bone morphology", + "eukaryotic cell", + "hematopoietic cell", + "anucleate cell", + "changed biological_process rate", + "external nose", + "oxygen accumulating cell", "nucleate cell", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "abnormal number of anatomical enitites of type cell", + "sensory perception of mechanical stimulus", + "skin of body", + "Abnormal upper limb bone morphology", + "abnormally decreased number of anatomical entity", + "Abnormal immune system morphology", "pectoral appendage skeleton", + "abnormal blood cell morphology", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "absent sperm in the independent continuant", + "platelet", + "abnormal brain morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal immune system", "abnormal hematopoietic system morphology", - "Aplasia/hypoplasia involving the skeleton", - "abnormal hematopoietic system", - "Abnormal eyelid morphology", + "abnormal programmed DNA elimination by chromosome breakage", "specifically dependent continuant", - "Abnormality of blood and blood-forming tissues", - "abnormal bone of pectoral complex morphology", + "Abnormality of multiple cell lineages in the bone marrow", + "male reproductive organ", + "disconnected anatomical group", + "abnormal cell", + "cavitated compound organ", + "Abnormal leukocyte count", + "primary subdivision of cranial skeletal system", + "abnormal hematopoietic cell morphology", + "digit 1", + "abnormal platelet morphology", + "Abnormal platelet morphology", + "Abnormal leukocyte morphology", + "internal male genitalia", + "programmed DNA elimination", + "obsolete cell", + "decreased length of long bone", + "digestive system", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "abnormally decreased number of platelet", + "Abnormal platelet count", + "nucleobase-containing compound metabolic process", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "abnormal manus", + "bone element hypoplasia in face", + "digit 1 or 5", "U-shaped kidney", - "material anatomical entity", - "appendage", - "aplasia or hypoplasia of skeleton", - "Abnormality of skin pigmentation", - "eyelid", - "independent continuant", - "system", - "male gamete", - "ectoderm-derived structure", - "decreased size of the anatomical entity in the pectoral complex", - "abnormal nervous system morphology", - "nervous system process", - "body proper", - "abnormality of reproductive system physiology", - "regional part of brain", - "anatomical entity hypoplasia", - "abnormal blood cell morphology", - "material entity", - "multicellular organism", - "gamete", - "organ part", - "Abnormality of head or neck", + "bone of jaw", + "subdivision of tube", + "aplasia or hypoplasia of mandible", + "Abnormality of the digestive system", + "abnormal forelimb morphology", + "abnormal digestive system morphology", + "abnormal digit", + "lower jaw region", + "Pancytopenia", + "decreased width of the anatomical entity in independent continuant", + "abnormal head", + "jaw region", + "abnormality of anatomical entity height", + "subdivision of organism along main body axis", + "dermal skeletal element", + "Abnormality of the integument", + "increased size of the anatomical entity in independent continuant", + "abnormal male reproductive system", + "abnormal mouth morphology", + "mouth", + "abnormal mandible morphology", + "abnormal head bone morphology", + "Aplasia/Hypoplasia involving bones of the skull", + "Abnormality of body height", + "tube", + "Abnormality of the genital system", + "intramembranous bone", + "structure with developmental contribution from neural crest", + "bone of craniocervical region", + "anatomical entity hypoplasia in face", + "mandible", + "immune system", + "facial bone", + "Abnormality of thrombocytes", + "Upper limb undergrowth", + "jaw skeleton", + "dermal bone", + "negative regulation of biological process", + "digestive tract", + "aplasia or hypoplasia of manual digit 1", + "dermal skeleton", + "abnormal digestive system", + "abnormal ear", + "Abnormal jaw morphology", + "abnormal jaw skeleton morphology", + "Short finger", + "Short digit", + "anterior region of body", + "decreased length of manual digit 1", + "Abnormal nasal tip morphology", + "aplastic anatomical entity", + "Bulbous nose", + "Abnormal external nose morphology", + "entire sense organ system", + "abnormal external nose morphology", + "nose", + "immaterial anatomical entity", + "Abnormality of the nose", + "Aplasia/Hypoplasia of the mandible", + "abnormally decreased number of myeloid cell", + "abnormal nose", + "abnormally increased volume of anatomical entity", + "nose tip", + "anatomical point", + "olfactory organ", + "abnormal erythrocyte morphology", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", + "trunk", + "abnormal bone marrow cell", + "abnormal shape of continuant", + "excretory system", + "Abnormal cellular physiology", + "3-D shape anatomical entity in independent continuant", + "3-D shape anatomical entity", + "abnormal manual digit morphology in the independent continuant", + "shape anatomical entity in independent continuant", + "manual digit 1 plus metapodial segment", + "abdomen", + "biological regulation", + "abdominal segment of trunk", + "abdominal segment element", + "Abnormality of the kidney", + "Horseshoe kidney", + "developmental process", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "shape kidney", + "abnormal renal system", + "changed developmental process rate", "abnormal genitourinary system", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal phenotype by ontology source", - "abnormal skeletal system", - "mesoderm-derived structure", + "Abnormality of the male genitalia", + "manual digitopodium region", + "Abnormality of blood and blood-forming tissues", + "decreased length of digit", + "upper urinary tract", + "anatomical entity hypoplasia in independent continuant", + "shape anatomical entity", + "concave 3-D shape anatomical entity", + "abnormal renal system morphology", + "abnormal chromatin organization", + "chromatin organization", + "negative regulation of cellular biosynthetic process", + "pectoral appendage", + "regulation of gene expression", + "cellular component organization", ], "has_phenotype_count": 20, "highlight": None, @@ -11378,16 +11378,16 @@ def autocomplete(): "namespace": "MONDO", "has_phenotype": [ "HP:0002749", - "HP:0034359", + "HP:0001942", + "HP:0003648", "HP:0001324", "HP:0003155", - "HP:0001942", "HP:0002148", "HP:0000124", "HP:0003109", - "HP:0003648", "HP:0002900", "HP:0002748", + "HP:0034359", "HP:0003076", "HP:0003355", "HP:0004322", @@ -11396,16 +11396,16 @@ def autocomplete(): ], "has_phenotype_label": [ "Osteomalacia", - "Impaired renal tubular reabsorption of phosphate", + "Metabolic acidosis", + "Lacticaciduria", "Muscle weakness", "Elevated circulating alkaline phosphatase concentration", - "Metabolic acidosis", "Hypophosphatemia", "Renal tubular dysfunction", "Hyperphosphaturia", - "Lacticaciduria", "Hypokalemia", "Rickets", + "Impaired renal tubular reabsorption of phosphate", "Glycosuria", "Aminoaciduria", "Short stature", @@ -11413,707 +11413,707 @@ def autocomplete(): "Renal insufficiency", ], "has_phenotype_closure": [ - "UPHENO:0086132", - "UPHENO:0086128", - "UPHENO:0051801", - "HP:0003126", - "CHEBI:33256", - "CHEBI:37622", "UPHENO:0068565", - "CHEBI:16670", - "HP:0000093", + "CHEBI:37622", "CHEBI:15841", + "CHEBI:32988", "CHEBI:16541", - "HP:0000002", - "UPHENO:0015280", + "UPHENO:0068247", + "CHEBI:16670", + "GO:0040007", + "UPHENO:0081424", + "UPHENO:0086132", "UPHENO:0075195", - "UPHENO:0080351", + "UPHENO:0049874", "UPHENO:0020584", - "HP:0004322", - "HP:0001510", - "UPHENO:0081423", - "CHEBI:64709", - "CHEBI:25367", - "HP:0040156", + "UPHENO:0069254", + "UPHENO:0000541", + "UPHENO:0075159", + "UPHENO:0068169", "CHEBI:35605", - "CHEBI:36586", + "UPHENO:0068495", "CHEBI:33575", - "UPHENO:0068040", - "CHEBI:33709", - "UPHENO:0051930", - "UPHENO:0082542", - "UPHENO:0012541", - "UPHENO:0049874", - "UPHENO:0000543", - "UPHENO:0068491", "CHEBI:24651", - "CHEBI:72695", - "CHEBI:24833", + "UPHENO:0046286", "HP:0003355", - "UPHENO:0051670", - "UPHENO:0068538", - "CHEBI:18133", - "CHEBI:15693", - "UPHENO:0052116", - "CHEBI:33917", - "UPHENO:0051635", - "UPHENO:0078554", - "CHEBI:35381", - "CHEBI:36962", - "CHEBI:25806", - "UPHENO:0080659", - "HP:6000531", + "CHEBI:36587", + "UPHENO:0068091", + "HP:0031980", + "UPHENO:0051670", + "CHEBI:33709", + "UPHENO:0068040", + "CHEBI:33608", + "UPHENO:0068144", + "UPHENO:0068538", + "UPHENO:0080658", + "UPHENO:0000543", + "HP:0003076", + "HP:0000002", "HP:0033354", "UPHENO:0068054", - "CHEBI:33521", - "CHEBI:36914", - "CHEBI:33504", - "CHEBI:36916", - "CHEBI:29103", - "UPHENO:0000541", - "CHEBI:33674", - "HP:0020129", - "UPHENO:0081548", + "CHEBI:36962", + "CHEBI:25806", "CHEBI:17234", - "UPHENO:0076286", - "UPHENO:0051958", - "UPHENO:0051898", - "UPHENO:0051645", - "UPHENO:0034199", - "HP:0011042", - "GO:0055080", - "HP:0010929", - "CHEBI:33250", - "CHEBI:26216", - "HP:0002748", - "CHEBI:36915", - "CHEBI:60242", - "CHEBI:25213", - "CHEBI:25414", - "UPHENO:0068511", - "UPHENO:0051640", - "CHEBI:60911", - "UPHENO:0051739", - "UPHENO:0081544", - "HP:0003109", + "CHEBI:35381", + "CHEBI:18133", + "HP:0034359", + "UPHENO:0051191", + "CHEBI:33917", + "HP:0011038", + "GO:0003008", + "GO:0003014", + "UPHENO:0051280", + "HP:0011036", + "CHEBI:33504", + "CHEBI:33694", + "UPHENO:0077821", + "CHEBI:36357", + "PR:000018263", + "CHEBI:33675", + "HP:0004379", + "HP:0000079", + "CHEBI:35352", + "HP:0100529", + "UPHENO:0068971", + "CHEBI:33695", + "GO:0001503", + "CHEBI:50860", + "HP:0012379", + "BFO:0000020", + "UPHENO:0012541", + "UPHENO:0068491", + "CHEBI:36360", + "PR:000064867", + "UPHENO:0046362", + "UPHENO:0081777", + "UBERON:0009773", + "HP:6000531", "UPHENO:0068352", - "UPHENO:0051900", - "CHEBI:33304", - "HP:0012599", - "UBERON:0000174", + "CHEBI:23367", + "UPHENO:0076289", + "HP:0001324", + "UPHENO:0002442", + "PATO:0000001", + "UPHENO:0081423", + "UPHENO:0002642", + "UPHENO:0051801", + "CHEBI:60911", + "HP:0000001", + "GO:0070293", + "UBERON:0004111", + "UPHENO:0068511", + "BFO:0000002", + "CHEBI:60004", + "CHEBI:33302", + "UBERON:8450002", + "UPHENO:0082542", + "HP:0000119", + "UPHENO:0002964", "UBERON:0001088", - "UPHENO:0068292", - "CHEBI:33559", - "CHEBI:24870", - "CHEBI:33259", - "UPHENO:0034217", - "HP:0031980", - "UPHENO:0068110", - "HP:0100529", - "CHEBI:33238", - "CHEBI:24867", - "CHEBI:37577", - "UPHENO:0004459", - "GO:0040007", - "UPHENO:0050080", - "UPHENO:0051960", - "CHEBI:26079", - "HP:0002148", - "UPHENO:0034351", - "CHEBI:33608", - "UBERON:0010000", - "GO:0048878", - "UPHENO:0046348", - "UBERON:0000179", - "PR:000000001", - "UBERON:0002390", - "CHEBI:33241", - "UPHENO:0046286", - "UBERON:0001630", - "HP:0032180", + "BFO:0000004", "UPHENO:0080352", + "UBERON:0000179", + "UPHENO:0046284", + "HP:0012072", + "HP:0032943", + "CHEBI:36963", "UPHENO:0051186", - "CHEBI:28358", - "CHEBI:24431", - "UPHENO:0082543", + "UPHENO:0080555", + "UPHENO:0024906", + "HP:0001939", + "UPHENO:0001002", + "CHEBI:60242", + "BFO:0000003", + "CHEBI:59999", + "PR:000050567", + "UPHENO:0082835", + "CHEBI:64709", "UPHENO:0079536", - "UPHENO:0068064", - "UPHENO:0079822", - "UPHENO:0082539", - "UBERON:0000479", - "UBERON:0004120", - "HP:0012337", + "UBERON:0003914", "HP:0001942", - "UBERON:0000468", - "UPHENO:0081550", - "HP:0004360", - "UPHENO:0002536", + "UBERON:0011216", "UBERON:0001434", - "UPHENO:0051763", - "UPHENO:0068169", - "UBERON:0000178", - "UPHENO:0082538", + "UBERON:0005090", + "UBERON:0000468", + "UPHENO:0034253", + "HP:0000093", "GO:0055062", - "CHEBI:36357", - "UBERON:0000025", - "HP:0001871", - "HP:0010930", - "CHEBI:33285", - "HP:0000924", - "CHEBI:35352", - "UPHENO:0069254", - "CHEBI:36080", - "CHEBI:33839", - "UBERON:0011216", - "HP:0034684", - "CHEBI:33675", - "UPHENO:0068058", - "HP:0004379", - "UPHENO:0068091", - "UPHENO:0081546", - "UBERON:0004211", - "UPHENO:0046362", - "CHEBI:50047", - "CHEBI:78616", - "UPHENO:0034438", - "CHEBI:50860", - "CHEBI:26082", - "BFO:0000002", - "GO:0001503", + "UBERON:0002417", + "CHEBI:22314", "GO:0008152", - "HP:0003155", - "UPHENO:0076289", - "UPHENO:0048707", - "CHEBI:36360", - "CHEBI:33582", - "UPHENO:0051280", - "HP:0000001", - "UPHENO:0075902", - "PR:000003968", - "UPHENO:0068971", - "UPHENO:0034391", - "CHEBI:51143", - "HP:0001992", - "CHEBI:33694", - "UBERON:0002204", - "CHEBI:33695", - "UBERON:0005177", - "CHEBI:33579", - "UPHENO:0051668", - "HP:0003076", + "UPHENO:0086128", + "UPHENO:0049587", + "UPHENO:0051635", "UBERON:0000383", + "UPHENO:0001005", + "CHEBI:15693", + "UPHENO:0081544", + "HP:0020129", + "UPHENO:0046348", + "UPHENO:0066927", + "HP:0000083", + "HP:0011804", + "GO:0032501", + "GO:0050801", + "UBERON:0001015", + "CHEBI:37247", + "UPHENO:0051640", + "UPHENO:0081546", + "CHEBI:51143", + "HP:0004360", + "UPHENO:0034391", + "HP:0000118", + "UPHENO:0068094", + "UBERON:0000178", + "UPHENO:0002536", + "UPHENO:0076692", + "HP:0011849", + "UPHENO:0048707", + "UBERON:0001231", + "UPHENO:0068110", + "UBERON:0003103", "UPHENO:0002320", - "HP:0001324", - "UBERON:0004765", - "PR:000018263", - "UPHENO:0002816", + "UPHENO:0084653", + "UPHENO:0001001", + "UBERON:0000062", + "UPHENO:0084654", + "UPHENO:0034351", + "UPHENO:0068292", + "UBERON:0001474", + "UPHENO:0082875", + "UBERON:0002100", + "CHEBI:28358", + "UPHENO:0076703", + "UPHENO:0015280", + "UPHENO:0081548", + "UBERON:0002204", + "UPHENO:0082539", + "CHEBI:33582", + "UBERON:0000465", + "UPHENO:0082538", + "UBERON:0000489", + "BFO:0000001", + "CHEBI:24833", + "UBERON:0001008", + "UPHENO:0082834", + "BFO:0000040", + "HP:0004349", + "GO:0042592", "HP:0004348", - "UPHENO:0075666", - "HP:0003110", - "HP:0003330", - "UPHENO:0046284", - "HP:0011036", - "HP:0011804", - "UPHENO:0068089", - "UBERON:0015212", + "HP:0002749", + "CHEBI:23906", "HP:0003011", - "UPHENO:0081547", - "PR:000050567", - "UBERON:0009569", - "UBERON:0011676", - "UBERON:0001015", - "UBERON:0000463", - "CHEBI:33296", - "UBERON:0004111", - "GO:0042592", - "HP:0000079", - "UPHENO:0051937", + "HP:0012337", + "UBERON:0006314", + "CHEBI:36080", + "CHEBI:50047", + "UPHENO:0068089", + "BFO:0000015", + "UBERON:0000174", + "HP:0000924", + "HP:0003330", + "UPHENO:0078554", + "UPHENO:0002332", + "CHEBI:33259", + "HP:0011277", + "UPHENO:0046283", + "UBERON:0001630", + "HP:0033127", + "CHEBI:33285", + "UPHENO:0001003", + "HP:0003155", "UPHENO:0080556", "HP:0002900", - "UBERON:0001231", - "UBERON:8450002", - "UPHENO:0049587", - "UBERON:0001008", - "HP:0000083", - "UPHENO:0068495", - "HP:0000077", - "HP:0000124", - "CHEBI:22314", - "UPHENO:0082835", - "UBERON:0003103", - "CHEBI:24835", - "UPHENO:0002411", - "HP:0012211", "UBERON:0000467", - "HP:0011277", - "CHEBI:60004", - "UPHENO:0049628", - "CHEBI:23367", - "UBERON:0003914", - "UBERON:0000483", - "GO:0003014", - "GO:0003008", - "HP:0010935", - "UBERON:0004819", - "UPHENO:0082834", - "UPHENO:0002803", - "HP:0001941", - "UBERON:0005090", + "UBERON:0004765", + "UPHENO:0081550", + "UPHENO:0080659", + "UPHENO:0051668", + "CHEBI:33579", + "HP:0003110", + "CHEBI:36359", "GO:0008150", - "UBERON:0007684", + "UPHENO:0051763", + "HP:0011842", + "UPHENO:0075696", + "HP:0001871", + "UBERON:0001062", + "CHEBI:72695", + "UPHENO:0068064", + "CHEBI:26079", + "CHEBI:33839", + "UPHENO:0082943", + "UPHENO:0075666", + "UPHENO:0002411", + "UBERON:0004120", + "HP:0002148", + "CHEBI:33304", + "HP:0010930", + "UBERON:0013702", + "UPHENO:0050080", + "GO:0098771", + "UPHENO:0004459", + "UPHENO:0080351", + "UPHENO:0076286", + "CHEBI:33250", + "UBERON:0002113", + "HP:0032180", + "CHEBI:25367", + "HP:0011042", + "CHEBI:26082", + "UPHENO:0049904", "UPHENO:0066739", - "BFO:0000020", - "UPHENO:0081777", - "UBERON:0004122", - "UBERON:0000916", - "UBERON:0009773", + "UPHENO:0075902", + "GO:0048878", + "UPHENO:0051937", + "UBERON:0002193", + "UPHENO:0051960", + "CHEBI:24870", "UBERON:0000064", - "UPHENO:0068144", - "CHEBI:16646", + "CHEBI:33241", + "HP:0001507", + "CHEBI:37577", + "HP:0012591", + "HP:0001510", + "HP:0003109", + "HP:0034684", + "CHEBI:24867", + "CHEBI:33256", + "UBERON:0000025", + "UPHENO:0051739", "UPHENO:0079824", - "CHEBI:33302", - "UBERON:0013702", - "CHEBI:33318", - "UBERON:0006314", - "UPHENO:0066943", - "CHEBI:37247", - "UPHENO:0080555", - "UPHENO:0049904", - "CHEBI:26217", - "UBERON:0000489", + "UPHENO:0051900", + "UPHENO:0049628", + "CHEBI:33238", + "UPHENO:0052008", + "HP:0040156", + "UBERON:0000463", "CHEBI:26020", - "UPHENO:0049709", - "UPHENO:0051847", - "BFO:0000040", - "UPHENO:0001003", + "UPHENO:0034217", + "UBERON:0011676", "UBERON:0001285", - "HP:0034359", - "UPHENO:0024906", - "UBERON:0000465", - "UPHENO:0082943", - "UPHENO:0051191", - "UPHENO:0002642", - "CHEBI:36963", - "UPHENO:0051804", - "GO:0070293", - "HP:0011038", - "UBERON:0000062", - "BFO:0000003", - "HP:0001939", - "UPHENO:0001005", - "UPHENO:0081424", - "HP:0003648", - "UPHENO:0002332", - "UPHENO:0066927", - "HP:0001507", - "GO:0098771", - "HP:0012072", - "CHEBI:36359", - "HP:0003111", - "CHEBI:23906", - "HP:0012379", - "UPHENO:0001002", - "UPHENO:0075696", - "UPHENO:0077821", - "UPHENO:0002964", - "UPHENO:0052008", - "UBERON:0006555", - "CHEBI:32988", - "UBERON:0005173", - "HP:0002749", - "HP:0004349", - "UPHENO:0084653", - "BFO:0000001", - "UPHENO:0068247", - "GO:0050801", - "GO:0032501", - "HP:0012591", - "UBERON:0002100", - "UBERON:0001062", - "HP:0032943", - "HP:0033127", - "HP:0011849", - "UPHENO:0002442", - "CHEBI:59999", - "UBERON:0002193", - "HP:0011842", "UBERON:0013701", - "UPHENO:0075159", - "UPHENO:0076692", - "UPHENO:0068094", - "HP:0000118", - "UPHENO:0082875", + "UBERON:0009569", + "UPHENO:0082543", + "UBERON:0000483", + "CHEBI:24431", + "HP:0003111", + "CHEBI:33318", + "PR:000003968", + "UBERON:0000479", "UPHENO:0051686", - "UBERON:0000061", - "UBERON:0005172", - "CHEBI:36587", - "UPHENO:0084654", - "BFO:0000004", - "UPHENO:0080658", - "HP:0000119", + "CHEBI:36915", "UBERON:0000475", - "UPHENO:0046283", - "UPHENO:0001001", + "HP:0012211", + "UBERON:0015212", + "CHEBI:78616", + "HP:0000077", + "HP:0001992", + "UBERON:0010000", "UPHENO:0051709", - "BFO:0000015", - "PR:000064867", - "UPHENO:0034253", - "PATO:0000001", + "UBERON:0002390", + "UPHENO:0066943", + "UPHENO:0049709", + "HP:0004322", + "CHEBI:26216", + "UBERON:0004211", + "UBERON:0007684", + "UBERON:0004122", + "HP:0010935", + "UBERON:0005172", + "HP:0003126", + "HP:0002748", "UPHENO:0002832", - "UBERON:0002417", - "UPHENO:0076703", + "UPHENO:0002803", + "CHEBI:16646", + "HP:0000124", + "UBERON:0000916", + "UBERON:0005173", + "UPHENO:0051847", + "UBERON:0005177", + "UPHENO:0002816", "UBERON:0011143", - "UBERON:0002113", - "UBERON:0001474", + "UBERON:0004819", + "HP:0012599", + "CHEBI:33296", + "PR:000000001", + "UPHENO:0034199", + "UPHENO:0051898", + "UPHENO:0081547", + "CHEBI:25414", + "UPHENO:0068058", + "CHEBI:33674", + "UPHENO:0051930", + "CHEBI:33559", + "CHEBI:25213", + "CHEBI:26217", + "UPHENO:0051645", + "HP:0010929", + "UPHENO:0051958", + "UPHENO:0052116", + "CHEBI:24835", + "CHEBI:36586", + "CHEBI:33521", + "CHEBI:36914", + "UPHENO:0034438", + "UBERON:0006555", + "GO:0055080", + "UBERON:0000061", + "CHEBI:36916", + "UPHENO:0079822", + "HP:0003648", + "HP:0001941", + "UPHENO:0051804", + "CHEBI:29103", ], "has_phenotype_closure_label": [ - "peptide", - "Abnormal urine protein level", - "increased level of protein polypeptide chain in independent continuant", - "primary amide", - "amide", + "Renal insufficiency", + "non-functional kidney", + "non-functional anatomical entity", + "carboxamide", + "increased level of protein polypeptide chain in urine", "abnormal independent continuant protein polypeptide chain level", - "abnormal growth", + "Low-molecular-weight proteinuria", + "amide", + "increased level of protein polypeptide chain in independent continuant", + "Abnormal urine protein level", + "peptide", + "growth", + "Growth delay", "Abnormality of body height", - "delayed biological_process", + "decreased size of the anatomical entity in the independent continuant", + "Growth abnormality", "delayed growth", - "Abnormal urine carboxylic acid level", - "abnormal independent continuant carboxylic acid level", - "increased level of organic acid in urine", - "Aminoaciduria", - "increased level of nitrogen molecular entity in independent continuant", - "organic molecule", + "abnormal anatomical entity morphology in the independent continuant", + "decreased height of the multicellular organism", + "increased level of carboxylic acid in independent continuant", "carboxylic acid", "molecule", - "oxoacid", - "decreased height of the anatomical entity", - "organic oxo compound", - "abnormal independent continuant nitrogen molecular entity level", - "carbon oxoacid", "increased level of amino acid in urine", - "polypeptide", - "aldose", - "decreased size of the anatomical entity in the independent continuant", + "hydroxides", + "organic molecule", + "carbonyl compound", + "abnormal size of anatomical entity", + "abnormal amino acid level", + "Organic aciduria", + "abnormal urine amino acid level", + "increased level of organic acid in urine", + "increased level of nitrogen molecular entity in independent continuant", "amino acid", - "abnormal independent continuant carbohydrate level", - "increased level of monosaccharide in independent continuant", - "glucose", - "Glycosuria", - "abnormal independent continuant glucose level", + "Elevated urinary carboxylic acid", "increased level of organic acid in independent continuant", - "increased level of glucose in urine", - "oxygen molecular entity", - "increased level of monosaccharide in urine", "increased level of glucose in independent continuant", - "Abnormal urinary organic compound level", - "abnormal urine glucose level", - "abnormal independent continuant potassium atom level", - "decreased size of the multicellular organism", - "alkali metal molecular entity", - "Short stature", - "abnormal metabolite independent continuant level", - "abnormal independent continuant potassium(1+) level", "Abnormal urine metabolite level", - "atom", - "abnormal blood potassium atom level", - "potassium molecular entity", - "monoatomic cation homeostasis", + "carbohydrates and carbohydrate derivatives", + "increased level of monosaccharide in urine", + "oxygen molecular entity", "organooxygen compound", - "decreased level of potassium atom in blood", - "potassium atom", - "inorganic cation", - "decreased level of potassium atom in independent continuant", + "Abnormal urinary organic compound level", + "abnormal independent continuant glucose level", + "aldohexose", "increased level of organic molecular entity in independent continuant", - "abnormal potassium atom level", - "hydrogen molecular entity", - "Abnormal blood cation concentration", - "abnormal role blood level", - "inorganic ion", - "Rickets", - "monovalent inorganic cation", - "metal cation", - "monoatomic monocation", - "s-block element atom", + "glucose", + "aldose", + "hexose", + "abnormal urine glucose level", + "increased level of monosaccharide in independent continuant", + "abnormal independent continuant carbohydrate level", + "monosaccharide", + "abnormal renal system process", + "renal absorption", + "abnormal renal absorption", + "abnormal independent continuant amino acid level", + "renal system process", + "organic molecular entity", + "protein-containing molecular entity", + "Decreased anatomical entity mass density", + "decreased level of chemical entity in independent continuant", + "Abnormal blood ion concentration", + "increased level of alkaline phosphatase, tissue-nonspecific isozyme", "main group element atom", - "Elevated urinary carboxylic acid", - "Abnormal blood potassium concentration", - "metal atom", - "decreased height of the multicellular organism", - "inorganic molecular entity", - "Low-molecular-weight proteinuria", - "potassium(1+)", - "Abnormal blood monovalent inorganic cation concentration", - "decreased role independent continuant level", - "abnormal monoatomic cation homeostasis", - "Lacticaciduria", - "aldohexose", - "cation", + "pnictogen molecular entity", + "abnormality of muscle organ physiology", + "increased level of protein", + "increased level of glucose in urine", + "body proper", + "decreased muscle organ strength", + "polypeptide", + "Abnormality of bone mineral density", + "anatomical structure", + "anatomical conduit", + "abdominal segment of trunk", + "musculature of body", + "monoatomic cation", + "Abnormality of the upper urinary tract", "chemical substance", - "racemate", - "Aciduria", - "mixture", + "abnormal independent continuant potassium atom level", + "increased independent continuant base level", + "muscle organ", + "anatomical entity dysfunction in independent continuant", + "rac-lactic acid", "increased level of rac-lactic acid in urine", - "increased level of rac-lactic acid in independent continuant", - "Abnormality of urine homeostasis", - "Renal insufficiency", - "abnormal blood potassium(1+) level", "increased level of chemical entity in urine", - "excreta", - "Abnormal urine phosphate concentration", - "abnormal urine chemical entity level", - "Abnormal urinary electrolyte concentration", - "carboxamide", - "increased level of phosphate in independent continuant", - "increased level of phosphate in urine", - "haemolymphatic fluid", - "hematopoietic system", - "blood", - "Hypophosphatemia", - "carbohydrate", - "abnormal role urine level", - "homeostatic process", - "protein polypeptide chain", - "Abnormal blood ion concentration", - "increased independent continuant acid level", - "abnormal blood phosphate level", - "abnormal blood chemical entity level", - "alkali metal atom", - "abnormal homeostatic process", - "Proteinuria", - "phosphorus molecular entity", - "decreased role blood level", - "phosphate ion homeostasis", - "alkali metal cation", - "decreased level of phosphate in blood", - "decreased level of chemical entity in blood", - "increased level of protein polypeptide chain in urine", - "abnormality of multicellular organism height", - "anatomical system", - "abnormal independent continuant chemical entity level", - "abnormal blood monoatomic ion level", - "increased level of carboxylic acid in independent continuant", - "mesoderm-derived structure", "increased level of chemical entity in bodily fluid", - "phosphorus oxoacids and derivatives", + "decreased anatomical entity strength", + "mixture", + "epithelial tube", + "organic oxo compound", + "excreta", + "abnormal acid bodily fluid level", + "monoatomic monocation", + "Abnormality of the urinary system", + "Aciduria", + "abnormal blood potassium atom level", + "abnormality of anatomical entity height", + "metal atom", + "increased level of rac-lactic acid in independent continuant", + "skeletal element", + "cavitated compound organ", + "delayed biological_process", + "oxoacid", + "Osteomalacia", + "chemical entity", + "increased independent continuant acid level", + "Abnormality of alkaline phosphatase level", "increased independent continuant role level", - "monoatomic entity", + "increased bodily fluid acid level", + "abnormal blood monoatomic ion level", + "decreased level of potassium atom in blood", + "Metabolic acidosis", + "homeostatic process", + "protein", + "phenotype by ontology source", + "decreased level of chemical entity in blood", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "abnormal independent continuant nitrogen molecular entity level", + "Lacticaciduria", + "alkali metal molecular entity", + "entity", + "Phenotypic abnormality", + "Hyperphosphaturia", + "abnormal anatomical entity mass density", + "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", "epithelium", - "phosphorus oxoacid derivative", - "ion", - "abdomen", - "abnormal phosphate ion homeostasis", - "anatomical structure", - "Abnormality of the urinary system", - "Abnormality of blood and blood-forming tissues", - "phosphoric acid derivative", - "material entity", - "inorganic ion homeostasis", - "monosaccharide", - "Abnormal blood phosphate concentration", - "bodily fluid", - "abnormal multicellular organism chemical entity level", - "abnormal chemical homeostasis", - "abnormal acid independent continuant level", + "abnormality of anatomical entity physiology", + "abnormally decreased functionality of the nephron tubule", + "Abnormal urine pH", + "increased level of chemical entity in independent continuant", + "Abnormal bone structure", + "anatomical system", + "potassium(1+)", + "All", + "abnormal growth", + "independent continuant", + "abnormal anatomical entity", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "abnormal urine chemical entity level", + "monoatomic ion homeostasis", + "decreased height of the anatomical entity", + "abnormal metabolite independent continuant level", + "abnormal size of multicellular organism", + "bone element", + "Abnormal renal tubular resorption", + "anatomical entity", + "multicellular anatomical structure", + "heteroorganic entity", + "abnormal bone element mass density", + "decreased role independent continuant level", + "Muscle weakness", + "organ part", + "abnormal musculature", + "abnormal skeletal system", + "increased level of phosphate in independent continuant", + "abnormal potassium atom level", + "abnormal renal system", + "process", "Abnormality of acid-base homeostasis", - "abnormal role independent continuant level", - "information biomacromolecule", + "tube", + "potassium molecular entity", + "genitourinary system", + "atom", + "carbohydrate", "increased bodily fluid role level", - "Abnormality of metabolism/homeostasis", + "biological_process", + "renal tubule", "carbon group molecular entity", - "increased level of amino acid in independent continuant", + "Abnormality of renal excretion", + "abnormal independent continuant chemical entity level", + "protein polypeptide chain", + "continuant", + "nephron", + "amino acid chain", + "tissue", + "Abnormal circulating enzyme concentration or activity", + "organism subdivision", + "urine", + "material entity", + "organic amino compound", + "Acidosis", "increased level of chemical entity", - "increased level of protein", - "protein-containing molecular entity", - "molecular entity", - "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", - "abnormal anatomical entity morphology in the independent continuant", - "organochalcogen compound", + "inorganic cation", + "Glycosuria", + "information biomacromolecule", + "abdominal segment element", + "Abnormal bone ossification", + "decreased size of the anatomical entity", + "blood", + "racemate", + "phosphate ion homeostasis", + "inorganic ion", + "abnormal genitourinary system", + "Aminoaciduria", + "organ system subdivision", + "primary amide", + "elemental molecular entity", "nitrogen molecular entity", - "material anatomical entity", - "Abnormal enzyme concentration or activity", - "Growth abnormality", - "increased level of alkaline phosphatase, tissue-nonspecific isozyme", + "renal system", + "hydrogen molecular entity", + "nephron tubule", + "phenotype", + "Abnormality of the genitourinary system", + "Reduced bone mineral density", + "inorganic ion homeostasis", + "Impaired renal tubular reabsorption of phosphate", + "multicellular organism", + "hematopoietic system", + "abnormal monoatomic cation homeostasis", "alkaline phosphatase, tissue-nonspecific isozyme", - "decreased level of phosphate in independent continuant", - "biomacromolecule", - "protein", - "heteroorganic entity", - "organonitrogen compound", + "nephron epithelium", "polyatomic entity", - "increased level of carboxylic acid in urine", - "urine", - "organism substance", - "monoatomic ion homeostasis", - "Elevated circulating alkaline phosphatase concentration", - "decreased anatomical entity strength", - "Muscle weakness", - "abnormal monoatomic ion homeostasis", - "muscle structure", - "Hypokalemia", - "hemolymphoid system", + "increased level of amino acid in independent continuant", "Abnormality of the musculature", - "abnormality of kidney physiology", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "abnormal role urine level", + "abnormal chemical entity level", + "organochalcogen compound", "Abnormal muscle physiology", - "musculature", - "abnormal amino acid level", - "carbonyl compound", - "multicellular anatomical structure", - "trunk", - "Acidosis", - "nephron tubule", - "renal tubule", - "Abnormality of the skeletal system", - "uriniferous tubule", - "abnormal independent continuant monoatomic ion level", - "abnormal acid bodily fluid level", - "nephron epithelium", - "anatomical conduit", - "organic molecular entity", - "nephron", - "epithelial tube", - "Abnormal renal physiology", - "Abnormality of the kidney", - "chalcogen molecular entity", - "cavitated compound organ", - "skeletal system", - "system process", - "increased level of chemical entity in independent continuant", - "abnormal phenotype by ontology source", - "organic acid", - "heteroatomic molecular entity", - "Abnormality of alkaline phosphatase level", - "organ part", - "abnormal kidney", - "oxoacid derivative", - "Abnormal circulating enzyme concentration or activity", - "Abnormality of bone mineral density", - "abdominal segment of trunk", - "elemental molecular entity", - "subdivision of trunk", - "elemental potassium", - "main body axis", - "abdomen element", - "Decreased anatomical entity mass density", - "abnormal musculature", - "rac-lactic acid", - "subdivision of organism along main body axis", - "s-block molecular entity", - "genitourinary system", - "abnormal independent continuant phosphate level", - "protein-containing material entity", - "macromolecule", - "abnormality of anatomical entity physiology", - "kidney epithelium", - "abnormally decreased functionality of the anatomical entity", - "Organic aciduria", - "amino acid chain", - "monoatomic cation", - "renal absorption", - "increased independent continuant base level", "Abnormal homeostasis", + "Abnormal enzyme concentration or activity", + "p-block molecular entity", + "biomacromolecule", + "Abnormality of urine homeostasis", "upper urinary tract", - "excretory tube", - "main group molecular entity", - "abnormal genitourinary system", - "Phenotypic abnormality", + "occurrent", + "organ", + "skeletal system", + "Abnormality of the urinary system physiology", + "abnormal blood chemical entity level", + "macromolecule", + "material anatomical entity", + "muscle structure", "metabolic process", - "Renal tubular dysfunction", - "growth", - "hydroxides", - "Abnormality of the upper urinary tract", - "carbohydrates and carbohydrate derivatives", - "muscle organ", - "abnormal anatomical entity mass density", - "All", - "kidney", - "increased bodily fluid acid level", - "abnormality of renal system physiology", - "Hyperphosphaturia", - "compound organ", - "lateral structure", - "Abnormality of renal excretion", - "non-functional anatomical entity", - "abnormality of muscle organ physiology", - "abnormal independent continuant amino acid level", - "phenotype", - "abnormal renal system", - "renal system process", - "chemical entity", + "bodily fluid", + "abnormal urine phosphate level", + "Abnormality of metabolism/homeostasis", + "abnormal monoatomic ion homeostasis", + "abnormal role blood level", + "organism substance", + "abnormality of kidney physiology", + "Elevated circulating alkaline phosphatase concentration", + "main group molecular entity", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "chemical homeostasis", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "decreased level of potassium atom in independent continuant", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "Abnormality of the skeletal system", + "abnormal independent continuant phosphate level", + "abnormal chemical homeostasis", + "abnormal protein level", "Abnormality of the musculoskeletal system", - "abnormal size of anatomical entity", - "Impaired renal tubular reabsorption of phosphate", - "tissue", - "phosphate", - "hexose", - "Abnormal bone structure", - "abdominal segment element", - "pnictogen molecular entity", + "abnormal phosphate ion homeostasis", + "abdomen element", + "haemolymphatic fluid", + "ion", + "abnormal homeostatic process", "multicellular organismal process", - "skeletal element", - "entity", - "Osteomalacia", - "decreased muscle organ strength", - "abnormal renal absorption", - "Growth delay", - "musculature of body", - "occurrent", - "abnormal skeletal system morphology", + "abnormal blood phosphate level", + "Hypophosphatemia", + "monoatomic ion", "abnormal role bodily fluid level", - "Abnormality of the genitourinary system", - "quality", - "process", - "body proper", - "abnormal urine amino acid level", - "Abnormal urine pH", - "bone element", - "continuant", - "Decreased bone element mass density", - "abnormal anatomical entity morphology", "abnormal biological_process", + "potassium atom", + "Proteinuria", + "abnormal skeletal system morphology", + "protein-containing material entity", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "abnormality of renal system physiology", + "quality", + "phosphoric acid derivative", + "trunk", + "phosphorus molecular entity", + "heteroatomic molecular entity", + "abnormal acid independent continuant level", + "monoatomic entity", + "abnormal phenotype by ontology source", + "subdivision of trunk", + "organic acid", "ossification", - "abnormal upper urinary tract", - "specifically dependent continuant", - "abnormal bone element mass density", - "independent continuant", - "multicellular organism", - "Abnormal bone ossification", - "monoatomic ion", - "decreased level of chemical entity in independent continuant", - "anatomical entity", - "Abnormal skeletal morphology", - "Abnormality of the urinary system physiology", - "abnormal renal system process", - "decreased level of chemical entity", - "trunk region element", - "decreased size of the anatomical entity", - "musculoskeletal system", - "Metabolic acidosis", - "non-functional kidney", - "abnormally decreased functionality of the nephron tubule", - "biological_process", - "organic amino compound", - "abnormal chemical entity level", - "Reduced bone mineral density", "Abnormal circulating metabolite concentration", - "abnormality of anatomical entity height", + "main body axis", "excretory system", - "abnormal size of multicellular organism", - "renal system", - "abnormal skeletal system", - "phenotype by ontology source", - "abnormal protein level", - "Abnormal renal tubular resorption", - "chemical homeostasis", - "abnormal anatomical entity", - "abnormal urine phosphate level", - "abnormal hematopoietic system", - "p-block molecular entity", - "anatomical entity dysfunction in independent continuant", - "organism subdivision", - "organ", - "organ system subdivision", + "abnormal independent continuant monoatomic ion level", + "musculoskeletal system", + "abnormal upper urinary tract", + "uriniferous tubule", + "subdivision of organism along main body axis", + "phosphorus oxoacids and derivatives", + "Abnormal blood phosphate concentration", + "kidney epithelium", + "compound organ", + "abdomen", + "Renal tubular dysfunction", + "abnormal kidney", + "trunk region element", + "Abnormality of the kidney", + "lateral structure", + "chalcogen molecular entity", + "Abnormal renal physiology", + "Short stature", + "inorganic molecular entity", + "abnormally decreased functionality of the anatomical entity", + "excretory tube", + "kidney", + "oxoacid derivative", + "increased level of phosphate in urine", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "musculature", + "decreased role blood level", + "abnormal role independent continuant level", + "metal cation", + "monovalent inorganic cation", + "s-block molecular entity", + "s-block element atom", + "Abnormal blood cation concentration", + "organonitrogen compound", + "abnormal independent continuant potassium(1+) level", + "abnormal blood potassium(1+) level", + "carbon oxoacid", + "Abnormal blood potassium concentration", + "abnormal multicellular organism chemical entity level", + "phosphate", + "alkali metal cation", + "elemental potassium", + "Hypokalemia", + "Abnormal blood monovalent inorganic cation concentration", + "monoatomic cation homeostasis", + "cation", + "alkali metal atom", + "hemolymphoid system", + "Rickets", + "abnormality of multicellular organism height", + "Abnormal urine carboxylic acid level", + "decreased level of chemical entity", "abnormal phosphate level", - "tube", + "system process", ], "has_phenotype_count": 16, "highlight": None, @@ -12168,681 +12168,681 @@ def autocomplete(): "Short stature", ], "has_phenotype_closure": [ - "HP:0001507", "GO:0040007", - "UPHENO:0000541", - "HP:0004322", + "UPHENO:0081424", + "UPHENO:0000543", + "UPHENO:0049874", + "HP:0001507", + "UPHENO:0012541", + "HP:0000002", "HP:0001510", - "UPHENO:0081423", - "UPHENO:0080352", - "UPHENO:0088162", - "UPHENO:0088170", + "HP:0001877", + "CL:0000329", "HP:0012130", + "UPHENO:0088162", "CL:0000764", - "CL:0000232", - "GO:0010468", - "GO:0006325", - "GO:0043170", - "GO:0046483", - "GO:0034641", - "GO:0016043", - "HP:0040012", - "UPHENO:0049990", - "UPHENO:0049873", - "GO:0031049", - "GO:0009987", - "UPHENO:0050021", - "UPHENO:0049700", - "GO:0010558", - "HP:0003221", - "GO:0044237", - "GO:0071840", - "UPHENO:0050845", - "HP:0011017", - "UPHENO:0078606", - "UPHENO:0050121", - "GO:0010556", - "GO:0031326", - "CL:0000329", - "GO:0010605", - "GO:0006259", + "GO:0009890", + "GO:0031324", "GO:0071824", - "GO:0060255", - "GO:0009892", - "GO:0048523", - "GO:0050789", - "GO:0006807", - "GO:0044238", + "UPHENO:0050021", "GO:0010629", - "HP:0000002", + "GO:0031049", + "GO:0060255", "GO:0009889", - "GO:0005623", - "CHEBI:36357", - "UPHENO:0049748", - "UPHENO:0051936", - "UPHENO:0012541", - "UPHENO:0049874", - "UPHENO:0000543", - "HP:0004364", - "CHEBI:32988", - "UPHENO:0051668", - "GO:0048519", - "UPHENO:0077813", - "CHEBI:33675", - "UPHENO:0076289", - "HP:0003220", - "CHEBI:33256", - "CHEBI:50860", - "UPHENO:0076286", - "CHEBI:16670", - "UPHENO:0077826", - "UPHENO:0081547", - "HP:0430071", - "UBERON:0006314", - "CHEBI:36963", - "UPHENO:0051804", - "UPHENO:0051612", - "CHEBI:36962", - "CHEBI:25806", - "UPHENO:0068971", + "GO:0048523", + "GO:0043933", "UPHENO:0050116", - "CHEBI:51143", - "CHEBI:33582", - "HP:0045056", - "UPHENO:0046284", - "PR:000003809", - "CHEBI:33694", - "CHEBI:15841", + "HP:0003221", + "UPHENO:0049990", + "UPHENO:0050121", + "GO:0005623", + "UPHENO:0049748", + "GO:0010468", + "GO:0010558", + "GO:0031327", + "GO:0006325", + "GO:0050794", + "GO:0019222", + "GO:0048519", + "GO:0006139", + "GO:1901360", + "GO:0043170", + "GO:0046483", + "UPHENO:0050845", + "HP:0003220", + "GO:0071840", + "UPHENO:0078606", + "UPHENO:0050113", + "GO:0031052", + "CHEBI:24431", + "UPHENO:0051680", "HP:0006254", - "HP:0033405", - "HP:0032180", - "UPHENO:0046378", - "CHEBI:33304", - "CHEBI:33302", - "UBERON:0000463", - "UPHENO:0087339", - "CL:0001035", - "BFO:0000040", - "HP:0005528", - "UBERON:0004120", - "UBERON:0000479", - "UBERON:0002371", - "HP:0033127", - "CL:0002092", - "UPHENO:0086173", - "HP:0001872", - "CL:0000458", - "UPHENO:0086049", - "HP:0011873", - "CL:0000233", - "NCBITaxon:33208", - "UBERON:0001474", + "UBERON:0010323", + "UPHENO:0086045", + "HP:0000234", + "UPHENO:0088338", + "UPHENO:0087089", + "UPHENO:0087123", + "HP:0000252", + "GO:0031323", + "UBERON:0011138", + "UPHENO:0000541", + "HP:0001874", + "GO:0010605", + "GO:0009892", + "UPHENO:0080079", + "NCBITaxon:2759", + "UPHENO:0081566", + "UPHENO:0087907", + "HP:0000152", + "UBERON:0000475", + "HP:0000240", + "UBERON:0001434", + "UPHENO:0076805", + "HP:0025461", + "HP:0002060", + "CL:0000988", "UPHENO:0069254", - "CHEBI:36080", - "UPHENO:0077822", - "UPHENO:0085070", - "NCBITaxon:1", - "NCBITaxon:131567", - "GO:0050794", + "UPHENO:0075220", + "UPHENO:0051936", + "HP:0010987", + "UPHENO:0081435", + "HP:0000924", + "UPHENO:0081423", + "UBERON:0015203", + "UPHENO:0022529", + "UPHENO:0049587", + "UPHENO:0002844", + "UPHENO:0001002", + "BFO:0000004", + "UPHENO:0080352", + "UBERON:0002405", + "UBERON:0000179", "UBERON:0011676", - "UBERON:0000178", - "UBERON:0010314", - "UBERON:0000062", - "UPHENO:0076702", - "UPHENO:0076805", + "UBERON:0000061", + "UPHENO:0001003", + "GO:0050789", + "UBERON:0013701", + "HP:0001881", + "UPHENO:0085344", + "UPHENO:0063722", + "HP:0001872", + "HP:0032180", + "UPHENO:0075159", + "HP:0100547", "GO:0071704", - "CHEBI:16541", - "UPHENO:0085302", - "UPHENO:0075220", - "UBERON:0003129", - "UPHENO:0087907", - "UBERON:0000955", - "UBERON:0004121", - "UBERON:0001890", - "HP:0000152", - "UBERON:0007811", - "HP:0012145", - "UBERON:0013702", - "HP:0009121", - "CHEBI:24431", - "UPHENO:0002764", - "CHEBI:23367", + "CL:0000219", + "UBERON:0011137", + "BFO:0000020", + "HP:0011991", + "UPHENO:0076675", + "CHEBI:36962", + "UPHENO:0002948", + "CHEBI:33256", + "UBERON:0000062", + "UPHENO:0086019", "UPHENO:0011498", - "UBERON:0010912", - "GO:0090304", - "CHEBI:50047", - "UPHENO:0046362", + "UPHENO:0077822", + "UBERON:0011216", + "UPHENO:0076703", + "UBERON:0002193", + "CL:0001035", + "UPHENO:0085354", + "PR:000018263", "UPHENO:0076799", - "HP:0001939", - "CL:0000763", - "HP:0005561", - "HP:0010876", - "UPHENO:0075696", - "CL:0000151", - "CL:0000457", - "UPHENO:0080200", - "UPHENO:0075195", - "HP:0000252", + "UBERON:0000481", + "UPHENO:0020584", + "UPHENO:0087518", + "OBI:0100026", + "CL:0000766", + "UPHENO:0084928", + "UPHENO:0088318", + "HP:0000001", "HP:0011875", - "UPHENO:0020888", - "CHEBI:35352", - "HP:0000924", + "HP:0430071", + "UPHENO:0085042", + "HP:0025354", + "UPHENO:0082943", + "UPHENO:0085371", + "CL:0000457", "HP:0012443", - "HP:0012639", - "UPHENO:0081435", - "GO:0031324", - "HP:0002060", - "HP:0001875", - "UBERON:0011137", - "UPHENO:0085195", - "UBERON:0002090", - "UBERON:0005944", - "GO:0065007", - "GO:0031323", - "UBERON:0011138", - "UPHENO:0022529", - "UBERON:0034925", - "CHEBI:33579", - "HP:0002011", - "GO:0019222", - "UPHENO:0076703", + "HP:0032251", + "UPHENO:0004459", + "CL:0000233", + "UPHENO:0080351", + "UPHENO:0076286", + "UPHENO:0049700", + "HP:0001911", + "UPHENO:0085405", + "UPHENO:0002764", + "GO:0006807", + "UPHENO:0006910", + "CL:0002242", + "GO:0010556", + "PR:000050567", + "UPHENO:0085076", "BFO:0000003", - "UBERON:0002616", - "UPHENO:0086176", - "UBERON:0001893", - "NCBITaxon:33154", - "GO:0031327", - "UBERON:0001016", - "HP:0025461", - "UPHENO:0002536", - "UPHENO:0051763", - "UBERON:0001434", - "UPHENO:0088318", - "UBERON:0000481", - "UPHENO:0081566", - "HP:0001877", + "UPHENO:0085356", + "PATO:0000001", + "UBERON:0034923", + "HP:0040012", + "UPHENO:0086005", + "UBERON:0000467", + "UBERON:0004765", + "UPHENO:0085118", + "HP:0002715", + "GO:0090304", + "UPHENO:0015280", + "HP:0045056", "UPHENO:0004523", - "UBERON:0002193", + "UPHENO:0086176", + "GO:0065007", + "HP:0010974", + "UPHENO:0085070", + "CHEBI:36963", + "HP:0000118", + "UBERON:0000033", + "UBERON:0000178", "HP:0011842", - "PR:000050567", - "BFO:0000015", - "UPHENO:0002948", - "UPHENO:0080079", - "UBERON:0000075", - "PATO:0000001", - "UPHENO:0051801", + "UPHENO:0075696", + "HP:0001871", + "HP:0001875", + "UPHENO:0077426", + "GO:0034641", + "HP:0011893", + "PR:000064867", + "UPHENO:0085984", + "CHEBI:51143", + "CL:0000255", + "UPHENO:0085189", + "UPHENO:0051612", + "CL:0000738", + "CL:0000763", + "CL:0000458", + "UPHENO:0088170", + "GO:0044238", + "UPHENO:0001001", "UPHENO:0086589", - "CL:0000988", - "UPHENO:0015280", + "UPHENO:0076791", + "CHEBI:37622", + "HP:0004322", + "UBERON:0003129", + "UPHENO:0086016", + "CL:0000000", + "UPHENO:0088166", + "BFO:0000001", + "UBERON:0004120", + "CL:0000094", + "UPHENO:0046362", "HP:0007364", - "UBERON:0010323", - "UPHENO:0085042", - "UPHENO:0085354", - "OBI:0100026", - "UPHENO:0085118", - "UPHENO:0001005", - "UPHENO:0081424", - "HP:0011893", - "NCBITaxon:6072", - "UPHENO:0004459", - "HP:0000240", - "UPHENO:0085356", "UBERON:0000468", - "NCBITaxon:2759", - "HP:0011991", + "HP:0032309", + "UBERON:0004121", + "UPHENO:0088335", + "GO:0006996", + "HP:0001939", + "NCBITaxon:33208", + "UPHENO:0076692", + "UPHENO:0002536", + "UBERON:0010314", + "UBERON:0001062", + "UPHENO:0088321", + "CL:0000775", + "UBERON:0000075", + "UBERON:0010912", "CL:0000225", - "CL:0000000", + "UBERON:0010000", + "UBERON:0002390", + "CHEBI:15841", + "GO:0031326", + "UBERON:0002090", + "CHEBI:23367", + "UBERON:0000073", + "HP:0000929", + "UBERON:0000955", + "UPHENO:0001005", + "HP:0040195", + "GO:0016043", + "HP:0002011", + "HP:0012145", + "BFO:0000002", + "HP:0012639", + "UPHENO:0051804", + "UBERON:0002204", + "GO:0044237", + "HP:0002977", + "NCBITaxon:131567", + "NCBITaxon:33154", + "GO:0006725", + "UBERON:0001893", + "UPHENO:0080200", + "UBERON:0001890", + "HP:0033127", + "UPHENO:0076702", + "HP:0001903", + "UBERON:0005944", + "UPHENO:0088176", + "UBERON:0034925", + "BFO:0000040", + "HP:0033405", + "CHEBI:33304", + "UBERON:0013702", "HP:0001873", - "UPHENO:0088321", - "UPHENO:0085371", - "GO:0006996", - "UPHENO:0085144", - "HP:0001874", - "UPHENO:0084987", + "UBERON:0007811", + "UPHENO:0075195", + "HP:0009121", + "NCBITaxon:6072", + "UPHENO:0002964", "UPHENO:0086172", - "CHEBI:33285", - "CL:0002242", - "UPHENO:0080351", - "CL:0000219", + "HP:0000707", + "UPHENO:0086173", + "UPHENO:0086049", + "HP:0011017", + "PR:000000001", + "UPHENO:0084987", + "UPHENO:0048707", + "CL:0000232", + "HP:0011873", + "CL:0000151", + "UPHENO:0085302", + "UBERON:0004288", + "UPHENO:0085144", + "HP:0020047", + "CL:0002092", + "CHEBI:33579", + "UPHENO:0051668", "UPHENO:0087355", - "HP:0032309", - "CL:0000255", - "UPHENO:0086019", - "UBERON:0001017", - "UPHENO:0085189", - "HP:0001903", - "UPHENO:0077426", - "HP:0032251", - "CHEBI:33695", - "UBERON:0002204", - "UBERON:0013701", - "HP:0010987", - "UPHENO:0086045", - "BFO:0000001", - "HP:0001881", - "HP:0000118", - "GO:0009890", - "UPHENO:0063722", - "GO:0006725", - "PR:000018263", - "UBERON:0004765", - "UPHENO:0075159", - "UPHENO:0076692", - "BFO:0000020", - "UPHENO:0051680", - "HP:0002715", - "HP:0010974", - "UPHENO:0001002", - "CL:0000775", - "UPHENO:0087123", - "GO:0043933", - "CL:0000738", + "UPHENO:0049873", + "UBERON:0000153", + "HP:0005561", + "UPHENO:0087339", "UPHENO:0035025", - "UPHENO:0048707", - "HP:0025354", - "UPHENO:0006910", - "UPHENO:0088338", - "UPHENO:0088166", + "UBERON:0000479", + "HP:0005528", + "UBERON:0002371", + "GO:0006259", + "UBERON:0001474", + "UPHENO:0085195", + "UBERON:0001016", + "CHEBI:36357", "UPHENO:0077821", - "UPHENO:0002964", - "UPHENO:0085405", - "UPHENO:0088176", - "HP:0000234", - "UBERON:0001062", - "UPHENO:0086016", - "GO:0008150", - "UPHENO:0076791", - "HP:0000001", - "UBERON:0002405", - "UBERON:0000033", - "UPHENO:0020584", - "UPHENO:0049587", - "UPHENO:0086005", - "HP:0000707", - "HP:0001911", - "PR:000064867", - "CL:0000766", - "UBERON:0011216", - "UPHENO:0002844", - "HP:0100547", - "CL:0000094", - "UPHENO:0085984", - "HP:0001871", - "UBERON:0000061", - "CHEBI:33839", - "UPHENO:0084928", - "GO:1901360", - "UBERON:0015203", + "UBERON:0000463", + "NCBITaxon:1", + "UPHENO:0046378", + "CHEBI:33302", + "UBERON:0000465", + "CHEBI:33582", + "CHEBI:16670", + "HP:0004364", + "HP:0010876", "UPHENO:0085330", - "HP:0002977", - "HP:0040195", - "UPHENO:0085344", - "UBERON:0010000", - "UPHENO:0088335", - "UBERON:0000475", - "UBERON:0000153", - "GO:0006139", - "UPHENO:0050113", - "UPHENO:0001001", - "UBERON:0000467", - "BFO:0000004", - "UBERON:0000073", "GO:0008152", - "BFO:0000002", - "GO:0031052", - "CHEBI:37622", - "HP:0000929", - "UPHENO:0085068", - "UBERON:0034923", + "UBERON:0002616", "UPHENO:0048751", - "UPHENO:0076675", + "UPHENO:0046284", + "CHEBI:50860", + "CHEBI:16541", + "UPHENO:0068971", + "CHEBI:33695", + "UBERON:0001017", + "UPHENO:0081547", + "CHEBI:25806", "CL:0000081", - "UPHENO:0087518", - "UPHENO:0085076", - "UPHENO:0087089", - "UBERON:0004288", - "PR:000000001", - "UBERON:0000179", - "UBERON:0002390", - "UPHENO:0082943", - "UBERON:0000465", - "HP:0020047", - "UPHENO:0001003", + "CHEBI:35352", + "UPHENO:0085068", + "CHEBI:32988", + "GO:0009987", + "CHEBI:33285", + "UPHENO:0051763", + "UPHENO:0020888", + "UPHENO:0077813", + "GO:0008150", + "CHEBI:33675", + "UPHENO:0076289", + "UPHENO:0077826", + "PR:000003809", + "BFO:0000015", + "CHEBI:33694", + "CHEBI:33839", + "UBERON:0006314", + "CHEBI:36080", + "CHEBI:50047", + "UPHENO:0051801", ], "has_phenotype_closure_label": [ - "growth", + "delayed biological_process", + "Short stature", + "decreased height of the anatomical entity", + "Growth delay", "decreased size of the multicellular organism", - "decreased size of the anatomical entity in the independent continuant", + "Abnormality of body height", "abnormality of anatomical entity height", - "Growth delay", + "delayed growth", "decreased height of the multicellular organism", - "delayed biological_process", - "erythrocyte", - "Abnormal erythroid lineage cell morphology", - "oxygen accumulating cell", - "Anemia", + "abnormality of multicellular organism height", + "abnormal erythroid lineage cell morphology", "Abnormal erythrocyte morphology", "abnormal erythrocyte morphology", - "abnormal metabolic process", - "abnormal chromatin organization", - "cellular process", - "Chromosomal breakage induced by crosslinking agents", - "Abnormality of chromosome stability", + "abnormal primary metabolic process", + "negative regulation of biosynthetic process", + "protein-DNA complex organization", + "regulation of cellular biosynthetic process", + "biological regulation", + "abnormal organelle organization", + "programmed DNA elimination", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "nucleic acid metabolic process", + "protein-containing complex organization", + "regulation of biological process", + "primary metabolic process", "obsolete nitrogen compound metabolic process", - "organic substance metabolic process", - "decreased height of the anatomical entity", - "abnormal programmed DNA elimination by chromosome breakage", + "cellular component organization or biogenesis", + "abnormal cellular component organization", "abnormal cellular metabolic process", + "obsolete cell", + "abnormal metabolic process", + "cellular process", + "abnormal cellular process", + "regulation of cellular metabolic process", + "regulation of metabolic process", "regulation of cellular process", "negative regulation of biological process", + "nucleobase-containing compound metabolic process", "organic cyclic compound metabolic process", + "macromolecule metabolic process", + "obsolete cellular aromatic compound metabolic process", + "organelle organization", + "obsolete cellular nitrogen compound metabolic process", "cellular component organization", - "regulation of macromolecule metabolic process", + "Growth abnormality", + "programmed DNA elimination by chromosome breakage", "regulation of gene expression", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "programmed DNA elimination", - "Abnormal cellular physiology", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "Chromosome breakage", - "regulation of cellular biosynthetic process", - "negative regulation of biosynthetic process", - "DNA metabolic process", + "abnormal telencephalon morphology", + "anatomical entity", + "cellular organisms", + "polyatomic entity", + "Abnormality of head or neck", + "craniocervical region", "haemolymphatic fluid", - "blood", - "chalcogen molecular entity", - "pnictogen molecular entity", - "negative regulation of macromolecule metabolic process", - "bodily fluid", - "nucleobase-containing compound metabolic process", - "negative regulation of metabolic process", - "increased level of alpha-fetoprotein", - "peptide", - "amino acid chain", - "Abnormality of metabolism/homeostasis", - "carbon group molecular entity", - "regulation of biological process", - "abnormal blood chemical entity level", - "increased level of chemical entity", - "abnormal blood protein polypeptide chain level", - "increased level of protein", - "Abnormal circulating organic amino compound concentration", - "Abnormal circulating metabolite concentration", - "abnormal independent continuant alpha-fetoprotein level", - "organism substance", - "Abnormal circulating alpha-fetoprotein concentration", - "abnormal blood alpha-fetoprotein level", - "primary amide", - "carboxamide", - "abnormal primary metabolic process", - "organic amino compound", - "abnormal blood nitrogen molecular entity level", + "body proper", + "aplasia or hypoplasia of telencephalon", + "regional part of brain", + "abnormal craniocervical region morphology", + "regional part of nervous system", + "forebrain", + "abnormal anatomical entity morphology in the brain", + "Abnormal skull morphology", + "Abnormal leukocyte morphology", + "Morphological central nervous system abnormality", + "cell", + "neutrophil", + "anterior region of body", + "multi-tissue structure", + "abnormal biological_process", "abnormal role bodily fluid level", - "Abnormal circulating organic compound concentration", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormal skeletal morphology", + "erythroid lineage cell", "obsolete heterocycle metabolic process", - "organic molecular entity", - "protein", + "Abnormal axial skeleton morphology", + "Chromosome breakage", + "abnormal chromatin organization", + "mesoderm-derived structure", "macromolecule", - "main group molecular entity", - "abnormal protein level", - "organooxygen compound", - "amide", - "organonitrogen compound", - "protein polypeptide chain", - "molecular entity", - "disconnected anatomical group", - "protein-containing molecular entity", - "abnormal platelet", - "abnormal independent continuant protein polypeptide chain level", - "abnormality of multicellular organism height", "anatomical system", - "abnormal independent continuant chemical entity level", - "Abnormality of the head", - "skeletal element", - "abnormal head", - "bone cell", - "information biomacromolecule", - "abnormal bone marrow cell morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormality of bone marrow cell morphology", - "abnormal erythroid lineage cell morphology", - "tissue", - "abnormal role blood level", - "Abnormal granulocyte count", - "abnormal hematopoietic system morphology", - "obsolete cellular nitrogen compound metabolic process", - "subdivision of organism along main body axis", + "main body axis", + "immune system", + "myeloid cell", + "organonitrogen compound", + "root", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal nervous system", + "Abnormal neutrophil count", + "brain", + "abnormal anatomical entity morphology in the independent continuant", "abnormal bone marrow morphology", - "Abnormality of body height", - "Abnormal cellular immune system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal platelet morphology", - "polypeptide", - "biogenic amine secreting cell", - "macromolecule metabolic process", - "abnormal hematopoietic cell morphology", + "quality", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal myeloid leukocyte morphology", + "myeloid leukocyte", + "biological_process", + "phenotype by ontology source", "anucleate cell", - "secretory cell", - "serotonin secreting cell", - "abnormally decreased number of platelet", - "negative regulation of gene expression", - "abnormal forebrain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal nervous system morphology", - "bone element", - "body proper", - "regulation of biosynthetic process", - "abnormal cellular process", - "Abnormality of brain morphology", + "granulocyte", + "abnormal number of anatomical enitites of type myeloid cell", + "musculoskeletal system", "Abnormal cell morphology", - "Abnormal forebrain morphology", - "Aplasia/Hypoplasia of the cerebrum", - "material entity", - "abnormal blood cell morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "organ", - "organism subdivision", - "Abnormal nervous system morphology", - "protein-DNA complex organization", - "abnormal telencephalon morphology", - "quality", + "phenotype", + "Abnormal cellular phenotype", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal number of anatomical enitites of type anatomical entity", + "nervous system", + "anatomical collection", + "All", + "abnormal skull morphology", + "increased level of protein", + "abnormally decreased number of leukocyte in the independent continuant", "aplasia or hypoplasia of anatomical entity", - "biological regulation", - "regulation of macromolecule biosynthetic process", - "process", - "cellular organisms", - "multi-tissue structure", - "main body axis", - "delayed growth", - "organism", - "Microcephaly", - "immune system", - "abnormal craniocervical region", - "Abnormal cerebral morphology", - "Abnormality of the musculoskeletal system", - "anterior region of body", + "Abnormal leukocyte count", + "decreased size of the anatomical entity in the independent continuant", + "secretory cell", + "central nervous system", + "abnormal blood alpha-fetoprotein level", + "hemolymphoid system", + "material anatomical entity", + "abnormal platelet morphology", + "Abnormal platelet count", + "growth", + "abnormally decreased number of anatomical entity in the independent continuant", + "serotonin secreting cell", + "nucleate cell", + "postcranial axial skeletal system", + "abnormal phenotype by ontology source", + "hematopoietic cell", + "skeletal system", + "motile cell", + "abnormal growth", + "abnormal leukocyte morphology", + "independent continuant", + "abnormal immune system morphology", + "nitrogen molecular entity", + "chromatin organization", + "negative regulation of macromolecule biosynthetic process", + "abnormal number of anatomical enitites of type granulocyte", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "amino acid chain", + "tissue", + "abnormal axial skeleton plus cranial skeleton morphology", + "organic molecular entity", + "primary amide", + "eukaryotic cell", + "skull", + "abnormal head", + "Abnormal myeloid leukocyte morphology", + "Abnormality of brain morphology", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "information biomacromolecule", + "multicellular organism", + "hematopoietic system", "abnormally decreased number of neutrophil", + "Abnormal granulocyte count", + "Abnormality of the skeletal system", + "Abnormal granulocyte morphology", + "anatomical structure", + "regulation of macromolecule biosynthetic process", + "Abnormal circulating metabolite concentration", + "abnormally decreased number of granulocyte", + "structure with developmental contribution from neural crest", + "abnormal neutrophil", + "ectoderm-derived structure", "abnormally decreased number of hematopoietic cell", - "forebrain", - "negative regulation of cellular metabolic process", - "telencephalon", - "obsolete cell", - "occurrent", - "abnormal skeletal system morphology", + "pnictogen molecular entity", + "Abnormal nervous system morphology", + "abnormally decreased number of cell", "oxygen molecular entity", - "anatomical collection", - "Abnormality of skull size", - "abnormal skull morphology", + "abnormal cell", + "abnormal programmed DNA elimination by chromosome breakage", + "organochalcogen compound", + "oxygen accumulating cell", + "protein", + "organic amino compound", + "Abnormal erythroid lineage cell morphology", + "leukocyte", + "Abnormality of chromosome stability", + "abnormal central nervous system morphology", + "material entity", + "abnormal alpha-fetoprotein level", + "Aplasia/Hypoplasia involving the central nervous system", + "Microcephaly", + "abnormal DNA metabolic process", + "blood cell", "chemical entity", - "regional part of brain", - "decreased size of the anatomical entity", - "musculoskeletal system", + "abnormal myeloid cell morphology", + "Abnormal myeloid cell morphology", + "abnormal forebrain morphology", + "negative regulation of gene expression", + "Phenotypic abnormality", + "abnormal blood cell morphology", + "Neutropenia", + "abnormally decreased number of cell in the independent continuant", "multicellular anatomical structure", - "skull", + "Abnormality of neutrophils", + "Abnormality of skull size", + "subdivision of organism along main body axis", + "abnormal skeletal system morphology", + "protein-containing material entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "Abnormal immune system morphology", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of anatomical entity", + "Elevated circulating alpha-fetoprotein concentration", + "abnormally decreased number of granulocyte in the independent continuant", + "non-connected functional system", + "abnormal size of multicellular organism", + "bone element", + "abnormally decreased number of leukocyte", + "abnormal hematopoietic cell morphology", + "abnormal granulocyte morphology", + "Chromosomal breakage induced by crosslinking agents", + "Abnormal circulating organic compound concentration", + "protein-containing molecular entity", + "skeleton", "bone marrow", - "Eukaryota", - "abnormal nervous system", - "Abnormal circulating nitrogen compound concentration", - "Abnormal axial skeleton morphology", - "erythroid lineage cell", - "abnormal size of anatomical entity", - "root", - "Abnormal neutrophil count", - "abnormal central nervous system morphology", - "abnormal size of skull", - "head", - "abnormally decreased number of granulocyte", - "organ system subdivision", - "Abnormal skull morphology", - "Abnormal circulating protein concentration", - "skeletal system", - "abnormal role independent continuant level", - "regional part of nervous system", - "Abnormal granulocyte morphology", - "subdivision of skeleton", - "subdivision of skeletal system", - "ectoderm-derived structure", - "cellular component organization or biogenesis", + "abnormal hematopoietic system", + "disconnected anatomical group", "abnormal immune system", - "polyatomic entity", - "Bone marrow hypocellularity", - "Abnormality of the nervous system", + "abnormal anatomical entity", "abnormal independent continuant nitrogen molecular entity level", - "abnormal craniocervical region morphology", - "craniocervical region", - "Abnormal leukocyte morphology", + "Abnormality of the head", + "Abnormal forebrain morphology", + "Abnormality of the immune system", + "Thrombocytopenia", + "abnormal anatomical entity morphology", + "Abnormal cerebral morphology", + "specifically dependent continuant", + "erythrocyte", "abnormal blood cell", - "abnormally decreased number of cell in the independent continuant", - "abnormal cellular component organization", + "organ system subdivision", + "abnormal size of skull", + "abnormal postcranial axial skeleton morphology", + "abnormal cell morphology", + "abnormal nervous system morphology", + "organism subdivision", + "decreased size of the anatomical entity", + "blood", + "subdivision of skeleton", + "Opisthokonta", + "telencephalon", + "axial skeletal system", + "abnormally decreased number of myeloid cell in the independent continuant", "cranial skeletal system", - "abnormal neutrophil", - "abnormal multicellular organism chemical entity level", - "abnormal immune system morphology", - "biological_process", - "alpha-fetoprotein", - "Abnormal myeloid cell morphology", - "nucleate cell", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Abnormal cellular phenotype", - "negative regulation of cellular process", - "hematopoietic system", - "blood cell", - "postcranial axial skeletal system", - "All", + "postcranial axial skeleton", + "abnormal skeletal system", + "Metazoa", + "axial skeleton plus cranial skeleton", + "Abnormality of the nervous system", "Eumetazoa", - "leukocyte", - "skeleton", - "mesoderm-derived structure", - "abnormal leukocyte morphology", - "nucleic acid metabolic process", - "p-block molecular entity", - "abnormal hematopoietic system", + "Eukaryota", + "abnormal craniocervical region", + "organism", "Decreased head circumference", - "specifically dependent continuant", - "regulation of metabolic process", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "bone marrow cell", - "abnormally decreased number of myeloid cell", - "abnormal head morphology", - "Growth abnormality", - "nervous system", - "motile cell", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "organelle organization", - "abnormal granulocyte morphology", - "hematopoietic cell", - "abnormal chemical entity level", - "abnormal number of anatomical enitites of type leukocyte", - "protein-containing material entity", - "programmed DNA elimination by chromosome breakage", - "Neutropenia", - "abnormal skeletal system", - "abnormal cell", - "hemolymphoid system", - "abnormal anatomical entity morphology in the brain", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "phenotype by ontology source", - "abnormal independent continuant protein level", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal DNA metabolic process", - "metabolic process", - "Phenotypic abnormality", - "myeloid cell", - "abnormal number of anatomical enitites of type granulocyte", - "abnormally decreased number of cell", - "neutrophil", - "independent continuant", - "Abnormality of blood and blood-forming tissues", - "anatomical structure", - "entity", - "brain", - "abnormal myeloid leukocyte morphology", - "Abnormal leukocyte count", - "phenotype", - "Abnormality of the skeletal system", - "platelet", - "abnormally decreased number of leukocyte", - "continuant", - "aplasia or hypoplasia of telencephalon", - "abnormal biological_process", - "primary metabolic process", - "abnormal anatomical entity morphology", - "Abnormality of the immune system", - "anatomical entity", - "Abnormal platelet count", - "abnormal alpha-fetoprotein level", - "Abnormal platelet morphology", - "central nervous system", - "Abnormality of neutrophils", + "Abnormality of thrombocytes", + "abnormal size of anatomical entity", + "abnormal platelet", "cellular metabolic process", - "cell", - "structure with developmental contribution from neural crest", - "abnormally decreased number of granulocyte in the independent continuant", - "abnormally decreased number of anatomical entity in the independent continuant", - "axial skeleton plus cranial skeleton", - "Abnormal skeletal morphology", + "biogenic amine secreting cell", + "abnormal blood chemical entity level", + "abnormal number of anatomical enitites of type platelet", + "abnormally decreased number of platelet", + "bone marrow cell", + "abnormal blood protein polypeptide chain level", + "bone cell", + "Abnormality of bone marrow cell morphology", + "polypeptide", + "abnormal hematopoietic system morphology", + "Bone marrow hypocellularity", + "skeletal element", + "negative regulation of cellular metabolic process", + "abnormal bone marrow cell morphology", + "Anemia", "abnormal bone marrow cell", - "abnormal anatomical entity", - "axial skeletal system", - "abnormal growth", - "eukaryotic cell", - "material anatomical entity", - "Morphological central nervous system abnormality", - "abnormally decreased number of myeloid cell in the independent continuant", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of head or neck", - "Metazoa", - "granulocyte", - "multicellular organism", - "abnormal cell morphology", + "Abnormal circulating alpha-fetoprotein concentration", + "Abnormality of multiple cell lineages in the bone marrow", + "carbon group molecular entity", + "abnormal independent continuant chemical entity level", + "Abnormal circulating nitrogen compound concentration", + "peptide", + "continuant", + "protein polypeptide chain", + "abnormal chemical entity level", + "abnormal number of anatomical enitites of type hematopoietic cell", + "process", + "abnormal role independent continuant level", + "abnormal independent continuant protein level", + "chalcogen molecular entity", + "entity", + "subdivision of skeletal system", + "Abnormal circulating protein concentration", + "Abnormality of the musculoskeletal system", + "abnormally decreased number of myeloid cell", + "abnormal protein level", + "metabolic process", + "bodily fluid", + "organism substance", + "organ", + "occurrent", + "increased level of alpha-fetoprotein", + "abnormal role blood level", + "Abnormality of metabolism/homeostasis", + "organic substance metabolic process", + "Abnormal cellular physiology", + "increased level of chemical entity", + "head", + "amide", + "platelet", + "organooxygen compound", + "abnormal independent continuant alpha-fetoprotein level", + "p-block molecular entity", "biomacromolecule", - "Opisthokonta", - "abnormally decreased number of anatomical entity", - "Abnormality of thrombocytes", - "protein-containing complex organization", - "abnormal axial skeleton plus cranial skeleton morphology", - "Abnormal myeloid leukocyte morphology", - "Thrombocytopenia", - "Short stature", - "non-connected functional system", - "abnormal phenotype by ontology source", - "abnormal number of anatomical enitites of type neutrophil", - "regulation of cellular metabolic process", - "abnormal myeloid cell morphology", - "abnormal brain morphology", + "Abnormal platelet morphology", "heteroorganic entity", - "Elevated circulating alpha-fetoprotein concentration", - "postcranial axial skeleton", - "obsolete cellular aromatic compound metabolic process", - "abnormally decreased number of leukocyte in the independent continuant", - "organochalcogen compound", - "nitrogen molecular entity", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal size of multicellular organism", - "myeloid leukocyte", + "alpha-fetoprotein", + "abnormal head morphology", + "abnormal independent continuant protein polypeptide chain level", + "Abnormality of blood and blood-forming tissues", + "molecular entity", + "DNA metabolic process", + "carboxamide", + "abnormal blood nitrogen molecular entity level", + "Abnormal circulating organic amino compound concentration", + "abnormal multicellular organism chemical entity level", + "main group molecular entity", + "negative regulation of cellular biosynthetic process", ], "has_phenotype_count": 8, "highlight": None, @@ -12877,1115 +12877,1115 @@ def autocomplete(): "namespace": "MONDO", "has_phenotype": [ "HP:0001249", - "HP:0000252", "HP:0009777", "HP:0000238", + "HP:0006433", + "HP:0002650", + "HP:0002023", + "HP:0000252", "HP:0001510", "HP:0006349", "HP:0000125", "HP:0005528", - "HP:0006433", "HP:0000568", "HP:0007099", "HP:0001903", "HP:0003221", "HP:0031936", "HP:0002144", - "HP:0002650", - "HP:0002023", "HP:0003764", ], "has_phenotype_label": [ "Intellectual disability", - "Microcephaly", "Absent thumb", "Hydrocephalus", + "Radial dysplasia", + "Scoliosis", + "Anal atresia", + "Microcephaly", "Growth delay", "Agenesis of permanent teeth", "Pelvic kidney", "Bone marrow hypocellularity", - "Radial dysplasia", "Microphthalmia", "Chiari type I malformation", "Anemia", "Chromosomal breakage induced by crosslinking agents", "Delayed ability to walk", "Tethered cord", - "Scoliosis", - "Anal atresia", "Nevus", ], "has_phenotype_closure": [ - "UBERON:0002416", - "UPHENO:0003811", - "HP:0000951", + "HP:0001574", "HP:0011121", - "UPHENO:0076739", - "UBERON:0001245", - "UBERON:0000161", - "HP:0002023", - "HP:0000925", - "UPHENO:0002813", - "UPHENO:0074228", - "UBERON:0001130", - "HP:0010674", - "UBERON:0002240", + "UBERON:0002416", + "UPHENO:0002635", "UBERON:0005174", "HP:0002144", - "UPHENO:0087858", - "HP:0002143", - "HP:0031936", + "UBERON:0002240", + "HP:0012758", + "HP:0001270", + "HP:0002194", + "GO:0009890", + "GO:0031324", + "GO:0071824", + "UPHENO:0050021", + "GO:0010629", + "GO:0031049", + "GO:0060255", + "GO:0009889", + "GO:0048523", + "GO:0043933", + "UPHENO:0050116", + "GO:0006996", + "HP:0001939", + "HP:0003221", + "UPHENO:0049990", + "UPHENO:0050121", + "GO:0005623", + "UPHENO:0049748", "GO:0010468", - "GO:0010558", "GO:0031327", "GO:0006325", + "GO:0050794", "GO:0019222", "GO:0006139", - "GO:1901360", - "GO:0046483", - "GO:0006725", - "HP:0012758", - "GO:0034641", - "HP:0040012", + "GO:0043170", "UPHENO:0050845", - "HP:0031938", - "UPHENO:0049990", - "GO:0031049", - "GO:0065007", + "HP:0003220", + "GO:0071704", "GO:0008152", - "GO:0009987", - "UPHENO:0049748", - "UPHENO:0049700", - "HP:0001574", - "GO:0044237", - "GO:0071840", - "HP:0001939", "UPHENO:0050113", - "UPHENO:0050121", - "GO:0010556", - "GO:0031326", - "GO:0010605", - "GO:0031324", - "GO:0060255", - "GO:0009889", - "GO:0009892", - 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"UBERON:0004733", + "UPHENO:0056333", + "HP:0012443", + "UPHENO:0035147", + "UBERON:0005282", + "HP:0000929", + "UBERON:0000073", + "RO:0002577", + "UBERON:0000955", + "UBERON:0005281", + "GO:0016043", + "HP:0002011", + "UBERON:0000047", + "HP:0025461", + "UPHENO:0076805", + "GO:0031323", + "HP:0000079", + "UBERON:0002513", + "UBERON:0011138", + "UPHENO:0026183", + "HP:0040068", + "UPHENO:0056072", + "UBERON:0002028", "BFO:0000002", + "HP:0012639", + "UPHENO:0047299", + "UBERON:0004086", + "UPHENO:0076702", + "HP:0031938", + "UBERON:0000463", + "UBERON:0000161", + "HP:0025031", + "UBERON:0002104", + "HP:0002118", + "UPHENO:0081451", + "UPHENO:0087349", + "UBERON:0002386", + "UBERON:0015021", + "GO:0009987", + "UBERON:0010703", + "UPHENO:0086956", + "UPHENO:0079872", + "UPHENO:0002751", + "BFO:0000020", + "UBERON:0001555", "UBERON:0006048", - "HP:0040068", - "UPHENO:0087907", - "UBERON:0005451", - "GO:0032501", - "UPHENO:0086932", - "HP:0000234", - "HP:0100547", + "UPHENO:0087510", + "UPHENO:0080114", + "UBERON:0015001", + "UBERON:0004381", + "UBERON:0008962", "HP:0004378", - "HP:0011842", - "GO:0050877", - "UPHENO:0082875", - "HP:0100887", - "UBERON:0005177", - "UBERON:0002529", - "UBERON:0004765", - "HP:0100542", - "UBERON:0007272", - "BFO:0000001", - "UBERON:0019221", - "UPHENO:0087472", - "BFO:0000020", - "UPHENO:0081566", - "UBERON:0000047", - "HP:0000929", - "UPHENO:0088047", - "UBERON:0001062", - "HP:0009804", - "UBERON:0004375", - "HP:0025033", - "HP:0000707", - "UPHENO:0002880", - "UBERON:0000467", - "HP:0002060", - "UPHENO:0076723", - "UPHENO:0002839", - "UBERON:0009569", - "UBERON:0002101", - "HP:0005528", - "BFO:0000040", - "UPHENO:0001005", - "CL:0000763", - "HP:0000163", - "HP:0002817", - "UBERON:0001137", - "UBERON:0034925", - "UBERON:0007811", - "HP:0012638", - "UBERON:0010000", - "HP:0003220", - "UBERON:0000026", + "HP:0031936", + "GO:0048519", + "HP:0011314", + "UPHENO:0086644", + "UBERON:0004456", + "UBERON:0001423", + "UPHENO:0087924", "UPHENO:0001002", - "HP:0001249", + "UBERON:0003460", + "UBERON:0010741", + "UBERON:0003466", + "UPHENO:0076718", + "HP:0000925", + "GO:0031326", + "UBERON:0002090", + "UPHENO:0002813", + "HP:0006433", + "UBERON:0000025", + "UPHENO:0022529", + "HP:0009121", + "HP:0011793", + "UPHENO:0076786", + "HP:0002818", + "HP:0002023", + "HP:0025033", + "UBERON:0001245", + "HP:0006483", + "UBERON:0010912", + "UPHENO:0063565", ], "has_phenotype_closure_label": [ + "Abnormality of the skin", + "abnormal skin of body morphology", + "skin of body", "integument", "integumental system", - "abnormal integument", - "abnormal skin of body morphology", - "Localized skin lesion", - "abnormal anus morphology", - "anatomical entity atresia", - "anus", - "Abnormality of the anus", - "Abnormal anus morphology", - "Abnormality of the vertebral column", - "abnormal vertebral column", - "vertebral column", - "Abnormal curvature of the vertebral column", - "Scoliosis", - "dorsal region element", + "Nevus", "Abnormal spinal cord morphology", - "Tethered cord", - "dorsum", "spinal cord", - "Delayed gross motor development", - "abnormal spinal cord morphology", - "abnormal metabolic process", - "biological regulation", - "metabolic process", - "cellular process", + "Abnormal conus terminalis morphology", + "dorsum", "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "Chromosomal breakage induced by crosslinking agents", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "regulation of cellular process", - "regulation of metabolic process", - "negative regulation of biological process", - "nucleobase-containing compound metabolic process", - "organic cyclic compound metabolic process", - "obsolete heterocycle metabolic process", - "obsolete cellular nitrogen compound metabolic process", - "cellular component organization", - "regulation of biosynthetic process", - "regulation of cellular metabolic process", - "negative regulation of cellular process", - "organelle organization", - "protein-containing complex organization", - "abnormal cellular process", - "regulation of gene expression", - "negative regulation of macromolecule biosynthetic process", - "programmed DNA elimination", - "obsolete cell", - "regulation of cellular biosynthetic process", "negative regulation of biosynthetic process", - "negative regulation of macromolecule metabolic process", - "negative regulation of cellular metabolic process", - "DNA metabolic process", - "myeloid cell", - "oxygen accumulating cell", - "blood cell", - "erythroid lineage cell", - "Anemia", - "abnormal erythroid lineage cell morphology", - "abnormal myeloid cell morphology", - "nucleic acid metabolic process", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "Abnormal metencephalon morphology", - "abnormally formed cerebellum", - "Abnormal hindbrain morphology", - "hindbrain", - "organic substance metabolic process", - "cerebellum", - "metencephalon", - "Chiari type I malformation", - "Abnormal cerebellum morphology", - "abnormal cerebellum morphology", - "abnormally formed anatomical entity in independent continuant", - "segmental subdivision of hindbrain", - "Abnormality of the skin", - "abnormal metencephalon morphology", - "abnormal hindbrain morphology", - "visual system", - "chromatin organization", - "sensory system", - "eye", - "orbital region", - "Neurodevelopmental delay", - "decreased size of the anatomical entity in the independent continuant", - "entire sense organ system", - "Abnormal cellular phenotype", - "Abnormality of the orbital region", - "abnormal eyeball of camera-type eye", - "eyeball of camera-type eye", - "camera-type eye", - "appendage girdle complex", - "decreased size of the eyeball of camera-type eye", - "anatomical conduit", - "Abnormality of globe size", - "forelimb endochondral element", - "abnormal forelimb zeugopod morphology", - "abnormal radius bone morphology", - "abnormal bone of pectoral complex morphology", - "dysgenesis of the radius bone", - "limb long bone", - "bone of free limb or fin", - "Abnormal morphology of the radius", - "arm bone", - "radius bone", - "Radial dysplasia", - "long bone", - "abnormally decreased number of anatomical entity", - "Abnormal forearm morphology", - "abnormal forebrain morphology", - "hematopoietic system", - "abnormally localised anatomical entity", - "non-connected functional system", - "system process", - "Neoplasm", - "abnormal bone marrow cell", - "abnormal nitrogen compound metabolic process", - "abnormal immune system", - "hemolymphoid system", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", - "abnormal bone marrow cell morphology", - "phenotype", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormality of bone marrow cell morphology", - "disconnected anatomical group", - "tissue", - "Abnormality of the immune system", - "phenotype by ontology source", - "cell", - "limb bone", - "abnormal cell morphology", - "macromolecule metabolic process", - "bone of pectoral complex", - "abnormal upper urinary tract", - "renal system", - "cavitated compound organ", - "anus atresia", - "abdomen", - "excretory system", - "Abnormality of the genitourinary system", - "Abnormality of limbs", - "Abnormal renal morphology", - "Growth abnormality", - "abnormal renal system morphology", - "subdivision of trunk", - "abdomen element", - "pectoral complex", - "trunk region element", - "Abnormal nervous system morphology", - "forelimb zeugopod", - "Abnormal conus terminalis morphology", - "Abnormality of head or neck", - "Abnormal eye morphology", - "abnormal kidney morphology", - "aplastic secondary dentition", - "Abnormality of skin morphology", - "brain ventricle/choroid plexus", - "abnormal number of anatomical enitites of type secondary dentition", - "bone marrow", - "tooth-like structure", - "digestive system", - "subdivision of head", - "abnormal location of anatomical entity", - "oral cavity", - "anatomical space", - "abnormal digestive system", - "subdivision of digestive tract", - "abnormal digestive system morphology", - "digestive tract", - "Abnormality of digestive system morphology", - "abnormal oral cavity morphology", - "abnormal mouth", - "simple eye", - "abnormally decreased number of anatomical entity in the independent continuant", - "quality", - "forelimb zeugopod bone", - "Agenesis of permanent teeth", - "Abnormality of the digestive system", - "mouth", - "tube", - "autopodial extension", - "Abnormal oral morphology", - "abnormal mouth morphology", - "abnormal size of eyeball of camera-type eye", - "aplastic anatomical entity", - "abnormal face", - "Abnormality of the upper urinary tract", - "abnormal dentition", - "growth", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "abnormal growth", - "Pelvic kidney", - "Abnormal localization of kidney", - "Abnormal erythroid lineage cell morphology", - "transudate", - "skeletal system", - "upper urinary tract", - "abnormally increased number of brain ventricle in the independent continuant", - "trunk", - "digit 1 plus metapodial segment", - "anatomical wall", - "abnormal anatomical entity morphology in the pectoral complex", - "bodily fluid", - "autopod region", - "compound organ", - "abnormal brain ventricle morphology", - "cerebrospinal fluid", - "Abnormal cerebrospinal fluid morphology", - "zeugopodial skeleton", - "ventricle of nervous system", - "brain ventricle", - "Aplasia/Hypoplasia involving the central nervous system", - "organism substance", - "specifically dependent continuant", - "Hydrocephalus", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Abnormal forearm bone morphology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "calcareous tooth", - "ventricular system of central nervous system", - "abnormal forelimb zeugopod bone", - "kidney", - "negative regulation of gene expression", - "ventricular system of brain", - "Abnormal cerebral ventricle morphology", - "abnormally increased number of anatomical entity in the independent continuant", - "abnormal kidney", - "abnormal brain ventricle/choroid plexus morphology", - "abnormal DNA metabolic process", + "abnormal organelle organization", + "programmed DNA elimination", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "nucleic acid metabolic process", + "protein-containing complex organization", + "regulation of biological process", + "primary metabolic process", + "obsolete nitrogen compound metabolic process", + "cellular component organization or biogenesis", + "abnormal cellular component organization", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "Chromosomal breakage induced by crosslinking agents", + "metabolic process", + "abnormal cellular process", + "regulation of cellular process", + "negative regulation of biological process", + "organelle organization", + "obsolete cellular nitrogen compound metabolic process", + "regulation of gene expression", + "negative regulation of cellular biosynthetic process", + "chromatin organization", + "Chromosome breakage", "abnormal chromatin organization", - "forelimb", - "Microphthalmia", - "malformed anatomical entity", - "autopodial skeleton", + "abnormal erythroid lineage cell morphology", + "Abnormal erythrocyte morphology", + "abnormal hematopoietic cell morphology", + "abnormal spinal cord morphology", + "Abnormal erythroid lineage cell morphology", + "abnormal myeloid cell morphology", + "oxygen accumulating cell", + "hematopoietic cell", + "abnormally formed anatomical entity", + "segmental subdivision of nervous system", + "hindbrain", + "Abnormal metencephalon morphology", + "Cerebellar malformation", "Motor delay", - "abnormal anatomical entity", - "paired limb/fin", - "abnormal limb long bone morphology", - "regulation of macromolecule metabolic process", - "continuant", - "aplastic manual digit 1", - "Abnormal appendicular skeleton morphology", - "delayed biological_process", - "abnormal anatomical entity morphology in the manus", - "abnormal hematopoietic system morphology", - "Abnormal number of teeth", - "Aplasia/hypoplasia involving the skeleton", - "pectoral appendage", - "mesoderm-derived structure", - "cellular component organization or biogenesis", - "Phenotypic abnormality", - "Abnormality of the face", - "abnormal digit morphology", - "orifice", - "abnormal orbital region", - "bone marrow cell", - "abnormal manus", - "abnormal anatomical entity morphology in the independent continuant", - "segment of manus", - "manual digit 1", - "multi-limb segment region", + "regulation of macromolecule biosynthetic process", + "abnormal size of eyeball of camera-type eye", + "abnormal face morphology", + "cellular metabolic process", + "simple eye", + "abnormal integument", + "eyeball of camera-type eye", + "decreased size of the anatomical entity in the independent continuant", + "orbital region", + "Abnormality of the orbital region", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", + "decreased size of the eyeball of camera-type eye", + "Anemia", + "camera-type eye", + "abnormal bone marrow cell", + "Abnormality of blood and blood-forming tissues", + "abnormal cell", "immune system", - "face", - "Microcephaly", - "abnormal craniocervical region", - "limb skeleton subdivision", - "manual digit plus metapodial segment", - "abnormal immune system morphology", - "radius endochondral element", - "Abnormal number of permanent teeth", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "abnormal cellular metabolic process", - "acropodium region", - "abnormally decreased number of calcareous tooth", - "Abnormality of the dentition", - "skeleton", - "Absent thumb", - "Abnormality of skull size", - "Abnormal digit morphology", - "aplasia or hypoplasia of manual digit", - "absent anatomical entity in the limb", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "Abnormality of the upper limb", - "abnormal telencephalon morphology", - "Bone marrow hypocellularity", - "Abnormality of the nervous system", - "abnormal cellular component organization", - "appendicular skeletal system", - "Eukaryota", - "forebrain", + "disconnected anatomical group", + "abnormal immune system", + "non-connected functional system", + "Abnormal cellular phenotype", "Abnormality of the integument", - "paired limb/fin segment", - "nervous system", - "skeleton of limb", - "Abnormal oral cavity morphology", - "regulation of biological process", - "Abnormal thumb morphology", - "Eumetazoa", - "segment of autopod", - "abnormal appendicular skeleton morphology", - "manual digit 1 or 5", - "abnormal anus", - "Abnormal cell morphology", - "organ component layer", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal forebrain morphology", - "manus", - "system", - "subdivision of organism along main body axis", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the hand", - "bone cell", - "digit 1", - "regional part of nervous system", - "abnormal head", - "abnormal autopod region morphology", - "digit", - "Abnormality of the skeletal system", - "abdominal segment of trunk", - "abnormal limb", - "Delayed ability to walk", - "regional part of brain", - "Intellectual disability", - "digit 1 or 5", - "absent manual digit", - "Abnormal hand morphology", - "All", - "Abnormal axial skeleton morphology", - "appendicular skeleton", "abnormal skin of body", - "segmental subdivision of nervous system", - "absent anatomical entity in the forelimb", - "Nevus", - "abnormal manual digit morphology in the independent continuant", - "Growth delay", - "forelimb skeleton", - "abnormal anatomical entity morphology in the appendage girdle complex", - "anatomical collection", - "Abnormality of multiple cell lineages in the bone marrow", - "skeleton of pectoral complex", - "manual digitopodium region", - "anterior region of body", - "absent anatomical entity in the multicellular organism", - "forelimb long bone", - "abnormal manus morphology", - "obsolete cellular aromatic compound metabolic process", - "immaterial entity", - "immaterial anatomical entity", - "endochondral element", - "endochondral bone", - "negative regulation of cellular biosynthetic process", - "Abnormal bone structure", - "Abnormality of the mouth", - "arm", - "limb", - "lateral structure", - "secondary dentition", - "abnormal number of anatomical enitites of type anatomical entity", - "digit plus metapodial segment", - "Neoplasm by anatomical site", - "Abnormality of limb bone", - "abnormal axial skeleton plus cranial skeleton morphology", + "Abnormality of bone marrow cell morphology", + "hemolymphoid system", + "Abnormality of the immune system", + "abnormal hematopoietic system", + "abnormal renal system morphology", + "abnormal anatomical entity topology in independent continuant", "abnormal genitourinary system", - "axial skeletal system", - "abnormality of nervous system physiology", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/hypoplasia involving bones of the extremities", - "agenesis of anatomical entity", - "Aplasia/Hypoplasia affecting the eye", - "biological_process", - "subdivision of skeleton", - "protein-containing material entity", - "bone of appendage girdle complex", - "manual digit", - "abnormal nervous system morphology", - "abnormal cell", - "bone element", - "nervous system process", - "body proper", - "abnormal programmed DNA elimination by chromosome breakage", - "Abnormality of brain morphology", - "subdivision of skeletal system", - "sense organ", - "abnormal postcranial axial skeleton morphology", - "telencephalon", - "manual digit 1 plus metapodial segment", - "protein-DNA complex organization", - "organ", + "abnormally localised anatomical entity", + "Ectopic kidney", + "abnormal renal system", + "negative regulation of cellular metabolic process", + "abnormal bone marrow cell morphology", + "abdomen element", + "abnormal eyeball of camera-type eye", + "Abnormality of the kidney", + "abnormally localised anatomical entity in independent continuant", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "abdominal segment element", + "abdominal segment of trunk", + "abdomen", + "Abnormality of the upper urinary tract", + "abnormal bone marrow morphology", + "abnormal location of anatomical entity", + "abnormal erythrocyte morphology", + "Abnormal number of permanent teeth", + "abnormally localised kidney", + "abnormally decreased number of anatomical entity in the multicellular organism", + "Abnormality of the face", + "Agenesis of permanent teeth", + "abnormally decreased number of anatomical entity", + "anatomical cavity", + "abnormally decreased number of calcareous tooth", + "cellular component organization", + "abnormal number of anatomical enitites of type calcareous tooth", + "secondary dentition", + "abnormal mouth morphology", + "calcareous tooth", + "dentition", + "subdivision of tube", + "Abnormal oral morphology", + "Abnormality of multiple cell lineages in the bone marrow", + "Abnormality of the dentition", + "Abnormal number of teeth", + "myeloid cell", + "aplastic secondary dentition", + "abnormally decreased number of anatomical entity in the independent continuant", + "growth", + "subdivision of digestive tract", + "delayed biological_process", + "Growth delay", + "abnormal biological_process", "programmed DNA elimination by chromosome breakage", - "abnormal bone marrow morphology", - "organism subdivision", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormality of limb bone morphology", - "zeugopod", + "abnormal orbital region", + "Abnormal localization of kidney", + "face", + "Growth abnormality", + "delayed growth", + "abnormal size of anatomical entity", + "Decreased head circumference", + "cranial skeletal system", + "Abnormality of the genitourinary system", + "forebrain", + "abnormal forebrain morphology", + "Eukaryota", + "Eumetazoa", + "abnormal skull morphology", + "Abnormality of the mouth", + "abnormal size of skull", + "abnormal telencephalon morphology", + "dorsal region element", + "Abnormality of skull size", + "Abnormal oral cavity morphology", + "abnormal head morphology", + "tooth-like structure", + "Abnormality of head or neck", + "body proper", + "regional part of brain", + "aplasia or hypoplasia of telencephalon", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal craniocervical region morphology", + "kidney", + "regional part of nervous system", + "visual system", "abnormal anatomical entity morphology in the brain", - "organ system subdivision", - "process", + "Abnormal skull morphology", + "abnormal kidney morphology", "main body axis", - "cellular organisms", - "skin of body", - "Abnormal cellular physiology", - "abnormal biological_process", + "subdivision of organism along main body axis", "multi-tissue structure", - "abnormal forelimb morphology", - "aplasia or hypoplasia of telencephalon", - "abnormal brain morphology", - "abnormal limb bone", - "abnormality of anatomical entity physiology", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormally formed anatomical entity", - "abnormal central nervous system morphology", - "root", - "abnormal size of anatomical entity", - "skull", - "cognition", - "decreased size of the anatomical entity", - "negative regulation of metabolic process", - "abnormal camera-type eye morphology", - "abnormally localised anatomical entity in independent continuant", - "musculoskeletal system", - "delayed growth", - "abnormal cerebrospinal fluid morphology", - "organism", - "Abnormal skeletal morphology", - "limb endochondral element", - "anatomical entity", - "axial skeleton plus cranial skeleton", - "paired limb/fin skeleton", - "postcranial axial skeletal system", - "abnormal size of skull", "Abnormality of the musculoskeletal system", - "dysgenesis of the anatomical entity", - "Neurodevelopmental abnormality", - "Abnormal skull morphology", - "Abnormality of the eye", - "abnormal skull morphology", - "erythrocyte", - "abnormal limb bone morphology", + "cellular organisms", + "abnormal digit", + "bodily fluid", "aplasia or hypoplasia of anatomical entity", - "cellular metabolic process", - "abnormally increased number of anatomical entity", - "abnormal anatomical entity topology in independent continuant", + "Aplasia/hypoplasia involving the skeleton", + "anatomical entity", + "Aplasia/hypoplasia involving bones of the upper limbs", + "bone marrow cell", + "system", + "aplasia or hypoplasia of manual digit 1", + "Abnormality of limbs", + "regulation of cellular metabolic process", + "regulation of metabolic process", + "Abnormality of limb bone morphology", + "abnormal brain ventricle/choroid plexus morphology", + "brain", + "abnormal anatomical entity morphology in the independent continuant", "limb segment", - "abnormally localised kidney", - "Cerebellar malformation", - "postcranial axial skeleton", - "central nervous system", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal mouth", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "limb endochondral element", + "genitourinary system", + "forelimb skeleton", + "abnormal number of anatomical enitites of type anatomical entity", + "limb bone", + "Abnormal finger morphology", + "abnormally formed cerebellum", + "absent anatomical entity in the limb", + "Abnormality of the skeletal system", + "abnormal metencephalon morphology", + "Abnormal forearm bone morphology", + "abnormal digit morphology", + "Abnormal forebrain morphology", + "abnormal appendicular skeleton morphology", + "multi-limb segment region", + "endochondral element", + "digit", + "abnormal arm", + "absent anatomical entity in the forelimb", + "Tethered cord", + "excretory system", + "Abnormal curvature of the vertebral column", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "Abnormal cerebellum morphology", + "digit 1 plus metapodial segment", + "head", + "Abnormality of limb bone", + "Neurodevelopmental delay", + "pectoral appendage", "absent anatomical entity", - "Chromosome breakage", - "abnormal number of anatomical enitites of type calcareous tooth", + "brain ventricle", + "aplastic manual digit 1", + "abnormal growth", + "independent continuant", + "organic cyclic compound metabolic process", + "segment of autopod", + "postcranial axial skeletal system", + "paired limb/fin skeleton", + "Abnormal cerebrospinal fluid morphology", + "Abnormal thumb morphology", + "phenotype by ontology source", + "skeletal system", + "root", + "appendage", + "tube", + "abnormal manual digit 1 morphology", + "organ subunit", "Cognitive impairment", - "Metazoa", + "anatomical space", + "paired limb/fin", + "digestive system", + "upper limb segment", + "appendicular skeleton", + "abnormal anatomical entity morphology in the manus", + "manual digitopodium region", + "abnormal forelimb morphology", + "Aplasia/Hypoplasia affecting the eye", + "abnormal hematopoietic system morphology", + "abnormal dentition", + "Abnormal nervous system physiology", + "subdivision of trunk", + "absent manual digit", + "abnormal phenotype by ontology source", + "cerebrospinal fluid", + "Abnormal cell morphology", + "phenotype", + "nucleobase-containing compound metabolic process", + "abnormal hindbrain morphology", + "absent digit", + "Abnormality of the eye", + "abnormal upper urinary tract", + "mouth", + "musculoskeletal system", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "Abnormal eye morphology", + "manual digit", + "Abnormal morphology of the radius", + "Neurodevelopmental abnormality", + "subdivision of organism along appendicular axis", + "Abnormality of mental function", + "organic substance metabolic process", + "Abnormal cellular physiology", + "Pelvic kidney", + "abnormality of nervous system physiology", + "skeleton of manus", + "lateral structure", + "digestive tract", + "process", + "hematopoietic system", + "multicellular organism", + "absent anatomical entity in the multicellular organism", + "agenesis of anatomical entity", + "abnormal face", + "autopodial extension", + "Bone marrow hypocellularity", + "skeletal element", + "zeugopod", + "negative regulation of gene expression", + "Phenotypic abnormality", + "Abnormality of the hand", + "Abnormal appendicular skeleton morphology", + "Delayed ability to walk", + "material entity", + "abnormal cerebellum morphology", + "skeleton", + "nervous system process", + "abnormal number of anatomical enitites of type secondary dentition", + "system process", + "anatomical collection", + "All", + "Abnormal cerebral ventricle morphology", + "Abnormal upper limb bone morphology", + "Abnormal hindbrain morphology", + "renal system", + "nervous system", + "abnormal limb bone morphology", + "cellular process", + "Abnormal digit morphology", + "decreased size of the anatomical entity", + "cognition", + "ventricular system of brain", + "anatomical structure", + "abnormal manus", + "abnormally increased number of brain ventricle in the independent continuant", + "organism", + "autopod region", + "biological_process", + "Finger aplasia", + "entire sense organ system", + "continuant", + "manual digit 1 plus metapodial segment", + "obsolete cellular aromatic compound metabolic process", + "multicellular organismal process", + "abnormal skeletal system morphology", + "protein-containing material entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "organ part", + "forelimb endochondral element", + "multicellular anatomical structure", + "Scoliosis", + "forelimb zeugopod", + "abnormal nervous system", + "manual digit 1 or 5", + "Neoplasm", + "upper urinary tract", + "Anal atresia", + "digit plus metapodial segment", + "skeleton of limb", + "material anatomical entity", + "segmental subdivision of hindbrain", + "brain ventricle/choroid plexus", + "anatomical system", + "quality", + "abnormal manus morphology", "pectoral appendage skeleton", - "Abnormality of the kidney", - "anatomical cavity", - "ectoderm-derived structure", - "Aplasia/Hypoplasia of fingers", - "subdivision of tube", - "Opisthokonta", - "Abnormal long bone morphology", - "structure with developmental contribution from neural crest", - "dentition", - "Abnormal myeloid cell morphology", - "abnormally decreased number of anatomical entity in the multicellular organism", + "manual digit plus metapodial segment", + "abnormal limb long bone morphology", + "radius endochondral element", + "regulation of cellular biosynthetic process", + "biological regulation", + "Abnormality of globe size", + "Intellectual disability", + "abnormal digestive system morphology", + "bone marrow", + "acropodium region", "Aplasia/hypoplasia of the extremities", + "forelimb", + "Abnormal skeletal morphology", + "aplasia or hypoplasia of manual digit", + "digit 1", + "obsolete heterocycle metabolic process", + "erythroid lineage cell", + "Abnormal axial skeleton morphology", + "postcranial axial skeleton", + "bone of free limb or fin", + "abnormal autopod region morphology", + "Absent thumb", + "anterior region of body", + "aplastic anatomical entity", + "autopodial skeleton", + "bone element", + "sense organ", + "abnormal limb bone", + "Abnormal nervous system morphology", + "abnormal immune system morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "manual digit 1", + "Abnormality of metabolism/homeostasis", + "abnormal anus morphology", + "organism subdivision", "occurrent", - "abnormal skeletal system morphology", - "anatomical system", - "abnormal anatomical entity morphology", - "abnormal skeletal system", - "abnormal organelle organization", - "head", - "abnormal head morphology", - "forelimb bone", - "subdivision of organism along appendicular axis", + "organ", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "bone of pectoral complex", + "entity", + "subdivision of skeletal system", + "Delayed gross motor development", + "subdivision of skeleton", + "endochondral bone", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal head", + "arm", + "Abnormal myeloid cell morphology", + "digit 1 or 5", + "bone cell", + "Aplasia/Hypoplasia of the thumb", + "regulation of biosynthetic process", "absent anatomical entity in the independent continuant", - "craniocervical region", - "brain", - "abnormal hematopoietic cell morphology", + "Neoplasm by anatomical site", + "cell", + "limb", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "trunk region element", + "pectoral complex", + "eye", + "Opisthokonta", + "paired limb/fin segment", + "appendicular skeletal system", + "skeleton of pectoral complex", + "limb skeleton subdivision", + "abnormal forelimb zeugopod bone", + "abnormal manual digit morphology in the independent continuant", + "manus", + "abnormal limb", + "Abnormality of digestive system morphology", + "Microphthalmia", + "abnormal skeletal system", + "macromolecule metabolic process", + "appendage girdle complex", + "Localized skin lesion", + "immaterial entity", + "Abnormal hand morphology", "abnormal limb morphology", - "organ part", - "multicellular organism", - "abnormal arm", - "Anal atresia", - "Abnormal nervous system physiology", - "Finger aplasia", - "digitopodium region", - "Tooth agenesis", - "abnormal hematopoietic system", - "hematopoietic cell", - "Decreased head circumference", - "abnormal craniocervical region morphology", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the urinary system", - "Chiari malformation", - "anatomical structure", + "forelimb zeugopod skeleton", + "mesoderm-derived structure", + "cerebellum", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "abnormal closing of the anatomical entity", + "Hydrocephalus", + "malformed anatomical entity", "Morphological central nervous system abnormality", - "multicellular organismal process", - "abnormal long bone morphology", - "entity", + "cavitated compound organ", + "abnormal brain morphology", + "bone of appendage girdle complex", + "anatomical wall", + "organ component layer", + "organism substance", + "Microcephaly", + "abnormal forelimb zeugopod morphology", + "central nervous system", + "ventricular system of central nervous system", + "abnormal anus", + "Chiari malformation", + "anatomical conduit", "Abnormality of the head", - "Abnormality of mental function", - "abdominal segment element", - "absent digit", - "genitourinary system", - "material anatomical entity", - "appendage", - "aplasia or hypoplasia of skeleton", - "independent continuant", - "upper limb segment", - "cranial skeletal system", - "abnormal nervous system", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal renal system", - "Abnormal upper limb bone morphology", - "skeletal element", - "abnormal digit", - "abnormal closing of the anatomical entity", - "material entity", - "organ subunit", + "abnormally increased number of anatomical entity", + "Abnormality of the urinary system", + "transudate", + "forelimb bone", + "skull", + "abnormal cerebrospinal fluid morphology", + "abnormal brain ventricle morphology", + "abnormally formed anatomical entity in independent continuant", + "oral cavity", + "dysgenesis of the radius bone", + "Abnormality of chromosome stability", + "abnormal kidney", + "abnormal central nervous system morphology", + "craniocervical region", + "abnormal long bone morphology", + "abnormal cell morphology", + "abnormal nervous system morphology", + "Tooth agenesis", "Abnormal cerebral morphology", - "Ectopic kidney", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "arm bone", + "ventricle of nervous system", + "axial skeletal system", + "Radial dysplasia", + "Abnormal long bone morphology", + "abnormal radius bone morphology", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "long bone", + "abnormal DNA metabolic process", + "blood cell", "abnormal manual digit morphology in the manus", - "abnormal phenotype by ontology source", + "radius bone", + "forelimb long bone", + "obsolete cell", + "compound organ", + "zeugopodial skeleton", + "limb long bone", + "dysgenesis of the anatomical entity", + "subdivision of head", + "Abnormality of brain morphology", + "forelimb zeugopod bone", + "metencephalon", + "abnormal digestive system", + "abnormal anatomical entity", + "Abnormal forearm morphology", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "trunk", + "Abnormality of the vertebral column", + "tissue", + "abnormal axial skeleton plus cranial skeleton morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal oral cavity morphology", + "telencephalon", + "vertebral column", + "Abnormal bone structure", + "abnormal vertebral column", + "erythrocyte", + "organ system subdivision", + "Abnormality of the anus", + "regulation of macromolecule metabolic process", + "Abnormality of the digestive system", + "anus", + "protein-DNA complex organization", + "Abnormal anus morphology", + "DNA metabolic process", + "orifice", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "immaterial anatomical entity", + "anus atresia", + "sensory system", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Aplasia/Hypoplasia of the cerebrum", + "Chiari type I malformation", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "Metazoa", ], "has_phenotype_count": 18, "highlight": None, diff --git a/backend/tests/fixtures/autocomplete_response.py b/backend/tests/fixtures/autocomplete_response.py index c9f774234..ce89ea3b1 100644 --- a/backend/tests/fixtures/autocomplete_response.py +++ b/backend/tests/fixtures/autocomplete_response.py @@ -5,7 +5,7 @@ def autocomplete_response(): return { "responseHeader": { - "QTime": 0, + "QTime": 1, "params": { "mm": "100%", "q": "fanc", @@ -20,7 +20,7 @@ def autocomplete_response(): }, }, "response": { - "num_found": 319, + "num_found": 320, "start": 0, "docs": [ { @@ -57,16 +57,14 @@ def autocomplete_response(): ], "namespace": "MONDO", "has_phenotype": [ + "HP:0000086", "HP:0001875", + "HP:0009777", "HP:0001249", - "HP:0000086", - "HP:0001000", "HP:0000252", - "HP:0000081", - "HP:0003214", - "HP:0003251", + "HP:0001627", + "HP:0000957", "HP:0000815", - "HP:0009777", "HP:0001017", "HP:0000104", "HP:0003974", @@ -78,31 +76,31 @@ def autocomplete_response(): "HP:0000568", "HP:0001518", "HP:0003221", + "HP:0001000", "HP:0009943", - "HP:0001627", "HP:0000978", "HP:0030680", "HP:0001903", - "HP:0000957", "HP:0001909", "HP:0012210", + "HP:0000081", "HP:0000085", "HP:0004322", "HP:0000486", "HP:0000365", + "HP:0003214", "HP:0003213", + "HP:0003251", ], "has_phenotype_label": [ + "Ectopic kidney", "Neutropenia", + "Absent thumb", "Intellectual disability", - "Ectopic kidney", - "Abnormality of skin pigmentation", "Microcephaly", - "Duplicated collecting system", - "Prolonged G2 phase of cell cycle", - "Male infertility", + "Abnormal heart morphology", + "Cafe-au-lait spot", "Hypergonadotropic hypogonadism", - "Absent thumb", "Anemic pallor", "Renal agenesis", "Absent radius", @@ -114,1590 +112,1592 @@ def autocomplete_response(): "Microphthalmia", "Small for gestational age", "Chromosomal breakage induced by crosslinking agents", + "Abnormality of skin pigmentation", "Complete duplication of thumb phalanx", - "Abnormal heart morphology", "Bruising susceptibility", "Abnormality of cardiovascular system morphology", "Anemia", - "Cafe-au-lait spot", "Leukemia", "Abnormal renal morphology", + "Duplicated collecting system", "Horseshoe kidney", "Short stature", "Strabismus", "Hearing impairment", + "Prolonged G2 phase of cell cycle", "Deficient excision of UV-induced pyrimidine dimers in DNA", + "Male infertility", ], "has_phenotype_count": 34, "has_phenotype_closure": [ "HP:0003254", + "HP:0003213", + "UPHENO:0049964", + "UPHENO:0051124", "GO:0051716", - "UPHENO:0049671", - "GO:0006974", + "GO:0006950", + "GO:0051319", + "GO:0007049", + "GO:0050954", + "HP:0000598", + "GO:0007605", + "UPHENO:0050625", "HP:0000364", + "UPHENO:0005518", "UPHENO:0052970", "UBERON:0002105", - "UPHENO:0005518", - "UPHENO:0002240", - "UBERON:0000015", + "NBO:0000338", "UPHENO:0049586", - "HP:0000496", + "HP:0000708", + "UPHENO:0049622", + "GO:0007610", + "HP:0000486", + "UBERON:0006800", "BFO:0000141", - "NBO:0000001", - "NBO:0000338", + "HP:0000549", + "HP:0000496", + "NBO:0000444", + "UBERON:0010222", "UPHENO:0079828", + "UPHENO:0080585", + "GO:0050896", + "HP:0011018", + "UBERON:0000015", + "UBERON:0000466", + "UPHENO:0081424", + "UPHENO:0000543", + "UPHENO:0081423", "UPHENO:0080351", "UPHENO:0075159", - "UPHENO:0080352", + "UPHENO:0041226", + "HP:0000085", + "UPHENO:0082444", + "GO:0007600", "UPHENO:0041075", - "UPHENO:0041465", "UPHENO:0082129", "UPHENO:0041629", - "UPHENO:0079826", - "UPHENO:0080300", - "HP:0002664", - "HP:0011793", + "UPHENO:0041465", + "HP:0000081", + "UPHENO:0075787", + "HP:0001909", "HP:0004377", - "UPHENO:0059829", - "HP:0001510", - "HP:0011355", - "HP:0000953", - "HP:0007400", - "HP:0012733", - "UPHENO:0081424", - "UPHENO:0074572", - "HP:0000957", - "UPHENO:0074575", - "UPHENO:0060026", - "GO:0003013", + "HP:0011793", + "HP:0002664", "UBERON:0000477", - "UBERON:0002049", "GO:0008015", + "HP:0001892", + "HP:0011029", + "HP:0002597", + "UPHENO:0002678", + "GO:0003013", + "HP:0000978", "UPHENO:0051097", "HP:0001933", - "UPHENO:0002678", - "UBERON:0005178", - "UBERON:0015410", - "UPHENO:0076776", - "UPHENO:0080362", - "UPHENO:0080221", - "UBERON:0002075", - "UBERON:0005181", - "UPHENO:0076810", - "HP:0011029", - "HP:0030680", - "UPHENO:0021800", - "HP:0001034", - "HP:0009997", - "UPHENO:0080662", - "UBERON:0001436", - "HP:0009942", - "UBERON:0012150", - "UBERON:0012358", + "UBERON:0007798", + "UPHENO:0084447", + "HP:0009602", + "UBERON:0003221", + "UBERON:0012357", + "HP:0011314", + "HP:0009943", + "UBERON:0015023", "UBERON:0015024", "UBERON:5101463", - "UPHENO:0020041", + "UPHENO:0087369", + "HP:0009942", + "UPHENO:0021800", + "GO:0022403", "UBERON:0004249", - "UBERON:0003620", + "UBERON:5106048", "UBERON:5102389", "UBERON:0010688", - "UBERON:0012151", - "HP:0004275", - "GO:0010558", - "GO:0019222", - "GO:0006139", - "GO:0007605", - "GO:0046483", - "GO:0006725", - "GO:0034641", - "HP:0040012", - "UPHENO:0050845", - "UPHENO:0049990", - "UPHENO:0049873", - "GO:0031049", - "UBERON:0010543", - "GO:0065007", - "UPHENO:0049748", - "UPHENO:0049700", - "GO:0071840", - "UBERON:0010222", "GO:0010556", - "GO:0016043", + "GO:0031326", "GO:0009890", + "HP:0011276", + "UBERON:0005897", "GO:0010605", + "GO:0031324", + "GO:0006259", + "GO:0071824", + "GO:0065007", + "UPHENO:0080581", + "UPHENO:0050021", + "GO:0010629", + "GO:0051325", "GO:0060255", - "UPHENO:0054970", - "GO:0048523", + "GO:0009889", + "GO:0031323", + "UBERON:0004100", + "GO:0009892", + "UBERON:0012150", "GO:0090304", - "GO:0006996", - "GO:0043933", + "UPHENO:0050116", + "HP:0003221", + "UPHENO:0049990", + "UPHENO:0050121", + "GO:0005623", + "UPHENO:0049700", + "UPHENO:0000541", + "UBERON:0001436", + "GO:0010468", + "NBO:0000313", + "GO:0010558", + "GO:0031327", + "GO:0006325", + "GO:0019222", + "HP:0011354", + "GO:0006139", + "GO:0046483", + "HP:0001939", + "UPHENO:0050845", + "HP:0003220", "GO:0050789", "GO:0044238", + "HP:0031704", "GO:0006807", "GO:0071704", - "HP:0004322", - "HP:0001627", - "GO:0010629", + "UPHENO:0049873", + "GO:0008152", + "HP:0000365", + "GO:0009987", + "UPHENO:0050113", + "GO:0031052", + "GO:0040007", + "UPHENO:0049874", + "UBERON:0010543", + "HP:0001507", "UPHENO:0082794", - "UBERON:0015228", - "HP:0001518", "UPHENO:0010763", - "GO:0040007", - "HP:0004325", - "HP:0005918", "UPHENO:0054299", - "UBERON:0001444", + "GO:0006974", + "HP:0004323", + "UPHENO:0010795", + "UPHENO:0020041", + "HP:0000271", + "UPHENO:0069523", + "UBERON:0000020", + "UPHENO:0087472", + "GO:0033554", + "UBERON:0000970", + "UBERON:0001456", + "UBERON:0004088", + "HP:0000568", + "UBERON:0004456", + "UPHENO:0075219", + "UBERON:0000047", + "UBERON:0010230", "UBERON:0000019", "HP:0008056", "UPHENO:0087924", - "GO:0050954", - "UBERON:0004456", + "HP:0100887", + "HP:0000478", + "UPHENO:0002910", + "HP:0011025", + "HP:0000315", "UPHENO:0080209", - "HP:0000568", - "UBERON:0001032", - "UPHENO:0075219", - "UPHENO:0080585", - "UPHENO:0075997", - "HP:0001626", - "UBERON:0004088", - "UPHENO:0049622", - "UPHENO:0088148", - "UPHENO:0085263", - "HP:0004323", - "HP:0009381", - "HP:0011927", - "UPHENO:0012541", - "UPHENO:0046624", - "UPHENO:0046411", - "UPHENO:0088186", - "UBERON:0005897", - "UPHENO:0085873", - "UPHENO:0080382", - "HP:0008669", - "GO:0007283", - "GO:0007276", - "UPHENO:0020950", - "UPHENO:0050108", - "UPHENO:0041821", - "UPHENO:0002595", - "CL:0000019", - "UPHENO:0049985", - "UPHENO:0012274", - "UPHENO:0087547", - "UPHENO:0021474", - "HP:0000811", - "UBERON:0004053", - "UPHENO:0049970", - "UBERON:0000473", - "CL:0000039", - "CL:0000413", - "UPHENO:0086023", - "HP:0012243", - "UPHENO:0049964", - "GO:0031326", - "CL:0000558", - "HP:0000035", - "UPHENO:0086198", - "UPHENO:0085875", - "CL:0000015", - "UBERON:0003101", - "GO:0032502", - "GO:0022414", - "GO:0000003", - "UPHENO:0052231", - "GO:0032504", - "HP:0009778", - "HP:0000812", + "HP:0001896", "HP:0004312", - "UPHENO:0050101", - "UPHENO:0005016", - "UPHENO:0078729", - "UPHENO:0087369", - "UPHENO:0021561", - "HP:0000598", - "CL:0000586", - "GO:0006281", - "GO:0048232", - "GO:0003006", - "HP:0009602", - "GO:0048609", - "HP:0000025", - "UPHENO:0085194", - "UPHENO:0002371", - "GO:0007600", - "HP:0012874", - "UBERON:0003135", - "UBERON:0000079", - "UPHENO:0002597", - "GO:0010468", - "HP:0010461", - "UPHENO:0087973", - "UPHENO:0085070", - "CL:0001035", - "UPHENO:0080581", - "UPHENO:0002598", - "CL:0000151", - "HP:0012145", - "UPHENO:0084987", - "GO:0006950", - "GO:0031327", - "HP:0001872", - "UBERON:0000479", - "GO:0031324", - "UPHENO:0086173", - "HP:0005561", - "CL:0000458", - "UBERON:0015063", - "UPHENO:0086049", - "HP:0011875", - "HP:0001873", - "GO:1901360", - "HP:0011873", - "HP:0001876", - "HP:0000315", - "CL:0002092", + "UPHENO:0086002", + "UPHENO:0049588", + "CL:0000558", + "UPHENO:0046505", + "HP:0009381", + "UPHENO:0012541", + "UPHENO:0002433", "CL:0000233", - "HP:0003953", - "UBERON:0003460", - "UBERON:0001423", - "UPHENO:0025945", - "UPHENO:0080377", - "UPHENO:0085874", - "UBERON:0002495", - "UPHENO:0080187", - "UPHENO:0081511", - "UPHENO:0052778", - "UPHENO:0079872", - "UPHENO:0078452", - "UBERON:0003466", - "UBERON:0008962", - "HP:0002597", - "UBERON:0003606", - "UPHENO:0076941", - "UBERON:0015001", - "UBERON:0002386", - "UPHENO:0002751", - "UPHENO:0026128", - "HP:0003974", - "HP:0040072", - "UBERON:5102544", - "UBERON:0002113", - "UBERON:0015021", - "UBERON:0011584", - "HP:0002973", - "UBERON:0000948", - "GO:0048519", - "UBERON:0002090", - "UBERON:0000991", - "HP:0040070", - "HP:0006503", - "HP:0003214", - "UPHENO:0087501", - "UPHENO:0086633", - "UPHENO:0087510", - "UBERON:0004765", - "UPHENO:0026980", - "UPHENO:0008593", + 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damage response", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "cellular response to stimulus", - "Abnormality of DNA repair", - "decreased sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "Abnormal ear physiology", - "Abnormality of the ear", - "abnormality of ear physiology", + "UBERON:0004710", + "UPHENO:0088162", + "UPHENO:0074589", + "GO:0050794", + "UPHENO:0085875", + "UBERON:0003460", + "HP:0012733", + "UPHENO:0026023", + "HP:0001574", + "HP:0003251", + "RO:0002577", + "HP:0000951", + "UPHENO:0085076", + "GO:0043473", + "HP:0011028", + "UBERON:0010712", + "HP:0000080", + "UPHENO:0003055", + "UBERON:0005156", + "UPHENO:0080126", + "UBERON:0015204", + "UPHENO:0003020", + "UBERON:0005944", + "UBERON:0000991", + "HP:0001903", + "UPHENO:0004459", + "UPHENO:0003116", + "UPHENO:0066972", + "HP:0000818", + "UBERON:0000990", + "HP:0008373", + "HP:0000118", + "HP:0001876", + "UPHENO:0024906", + "HP:0000078", + "CL:0000232", + "UBERON:0004375", + "HP:0011873", + "UPHENO:0054261", + "NCBITaxon:131567", + "HP:0001017", + "UPHENO:0087089", + "CL:0000764", + "UBERON:0001474", + "CL:0000329", + "UPHENO:0082875", + "HP:0011355", + "HP:0000104", + "UPHENO:0008593", + "UPHENO:0026980", + "GO:1901360", + "HP:0000980", + "UBERON:0000061", + "UPHENO:0025211", + "HP:0025461", + "UPHENO:0009399", + "UBERON:0015021", + "UBERON:0002386", + "UPHENO:0086635", + "HP:0000240", + "HP:0000812", + "UBERON:0000955", + "UBERON:0010703", + "UBERON:0010912", + "CL:0000094", + "HP:0040072", + "UPHENO:0086956", + "UPHENO:0085356", + "GO:0019953", + "GO:0071840", + "HP:0002813", + "HP:0002818", + "UPHENO:0076799", + "HP:0000119", + "UPHENO:0081511", + "UBERON:0004176", + "UPHENO:0079872", + "UPHENO:0009341", + "GO:0006725", + "UPHENO:0087501", + "UBERON:0013702", + "UPHENO:0080187", + "UBERON:0002405", + "UPHENO:0021561", + "UBERON:0003606", + "UBERON:0002104", + "HP:0006503", + "UPHENO:0041821", + "HP:0009825", + "UPHENO:0002332", + "HP:0012874", + "HP:0009142", + "UBERON:0004535", + "UPHENO:0002751", + "UBERON:0002495", + "UBERON:0001423", + "HP:0001249", + "UBERON:0001968", + "UBERON:0010741", + "UPHENO:0081755", + "UBERON:0002471", + "CL:0000151", + "UPHENO:0069254", + "UBERON:0000949", + "UBERON:0003466", + "HP:0001911", + "UBERON:0006048", + "UPHENO:0025945", + "HP:0040070", + "UBERON:0001690", + "UBERON:0015410", + "UPHENO:0086173", + "CL:0000457", + "UPHENO:0086045", + "HP:0011875", + "UPHENO:0087355", + "UPHENO:0087339", + "UBERON:0011584", + "UPHENO:0084987", + "UPHENO:0085042", + "HP:0012145", + "UPHENO:0084761", + "HP:0001872", + "CL:0000458", + "UPHENO:0026028", + "UPHENO:0084928", + "UPHENO:0085302", + "GO:0048519", + "UBERON:0006058", + "UPHENO:0085874", + "HP:0001871", + "UBERON:0000079", + "UPHENO:0086201", + "HP:0001000", + "UPHENO:0080382", + "HP:0003953", + "GO:0048609", + "GO:0003006", + "HP:0004742", + "UBERON:0003620", + "HP:0012130", + "CL:0000300", + "UPHENO:0005597", + "CL:0000586", + "UPHENO:0052231", + "HP:0000028", + "HP:0001627", + "UPHENO:0049970", + "GO:0000003", + "HP:0000811", + "HP:0005918", + "HP:0012243", + "HP:0001172", + "UBERON:0011676", + "HP:0002973", + "HP:0000025", + "HP:0001510", + "UPHENO:0086023", + "UBERON:0004288", + "UPHENO:0002830", + "UBERON:0015228", + "CL:0000015", + "UPHENO:0076941", + "UPHENO:0002764", + "UPHENO:0002597", + "UBERON:0011216", + "UBERON:0004175", + "HP:0008669", + "HP:0000035", + "HP:0004322", + "UPHENO:0087973", + "UPHENO:0086198", + "HP:0012041", + "UPHENO:0079826", + "UBERON:0004122", + "UPHENO:0002595", + "CL:0000413", + "CL:0000039", + "UPHENO:0076718", + "UPHENO:0005651", + "UPHENO:0052778", + "GO:0050877", + "HP:0011927", + "UBERON:0015063", + "UPHENO:0078729", + "UBERON:0000463", + "UPHENO:0078452", + "UPHENO:0053298", + "UBERON:0000473", + "UPHENO:0086005", + "UBERON:0004053", + "UPHENO:0008668", + "UPHENO:0068971", + "UPHENO:0046411", + "HP:0004325", + "UPHENO:0031839", + ], + "has_phenotype_closure_label": [ + "Decreased fertility in males", + "Decreased fertility", + "DNA repair", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "abnormal response to stress", + "abnormal cellular response to stress", "abnormal DNA repair", + "response to stress", + "cell cycle phase", + "Abnormality of the cell cycle", + "G2 phase", + "decreased qualitatively sensory perception of mechanical stimulus", + "decreased sensory perception of sound", + "abnormal ear", + "abnormal sensory perception", "Hearing abnormality", - "non-material anatomical boundary", - "abnormal behavior", - "response to stimulus", - "eye movement", + "ear", + "sensory perception of sound", + "body part movement", "anatomical line", + "immaterial anatomical entity", + "Strabismus", "abnormal response to stimulus", - "Abnormality of eye movement", - "Abnormal eye physiology", - "abnormality of camera-type eye physiology", - "abnormal behavior process", - "abnormal size of multicellular organism", - "decreased height of the anatomical entity", - "decreased size of the multicellular organism", - "abnormality of anatomical entity height", - "delayed growth", - "Growth delay", + "response to stimulus", + "behavior process", + "abnormal eye movement", + "eye movement", + "behavior", + "delayed biological_process", + "Short stature", "Abnormality of body height", + "abnormal DNA damage response", + "delayed growth", + "abnormal size of multicellular organism", "decreased height of the multicellular organism", "abnormality of multicellular organism height", - "abnormal shape of continuant", + "Abnormality of eye movement", "concave 3-D shape anatomical entity", + "shape anatomical entity", "Horseshoe kidney", "3-D shape anatomical entity", - "shape anatomical entity in independent continuant", - "ear", - "Neoplasm by anatomical site", - "delayed biological_process", - "Irregular hyperpigmentation", - "Hypermelanotic macule", - "increased pigmentation in independent continuant", - "Hyperpigmentation of the skin", - "increased qualitatively biological_process in independent continuant", - "abnormal response to stress", - "Cafe-au-lait spot", - "abnormal biological_process in independent continuant", - "increased qualitatively biological_process", - "Localized skin lesion", - "vasculature", + "U-shaped anatomical entity", + "Neoplasm", + "Hematological neoplasm", + "Generalized abnormality of skin", "Internal hemorrhage", - "abnormality of cardiovascular system physiology", "Abnormality of the vasculature", - "Abnormal cardiovascular system physiology", - "circulatory system process", - "cardiovascular system", - "Strabismus", - "circulatory organ", - "thoracic segment organ", + "blood circulation", + "Vascular skin abnormality", + "Abnormality of blood circulation", + "vasculature", + "abnormality of cardiovascular system physiology", + "Abnormal bleeding", + "Bruising susceptibility", + "Subcutaneous hemorrhage", "vascular system", - "thoracic segment of trunk", - "heart plus pericardium", - "Abnormality of cardiovascular system morphology", - "abnormal cardiovascular system", - "primary circulatory organ", - "Complete duplication of phalanx of hand", - "Duplication of hand bones", - "manual digit digitopodial skeleton", - "skeleton of manual acropodium", - "Abnormal long bone morphology", + "abnormal anatomical entity morphology in the skeleton of manus", "Abnormality of thumb phalanx", - "Abnormal finger phalanx morphology", - "sensory perception of sound", - "abnormal phalanx of manus morphology", + "manual digitopodium bone", + "Duplication of bones involving the upper extremities", "phalanx", - "digitopodium bone", - "U-shaped anatomical entity", - "manual digit 1 phalanx endochondral element", + "phalanx endochondral element", + "manual digit phalanx endochondral element", + "abnormal phalanx morphology", + "abnormal phalanx of manus morphology", "Duplication of phalanx of hand", - "individual digit of digitopodial skeleton", - "Duplication of thumb phalanx", - "biological regulation", + "acropodial skeleton", + "manual digit bone", + "digit 1 digitopodial skeleton", + "manual digit digitopodial skeleton", + "digitopodium bone", + "skeleton of manual acropodium", "abnormal primary metabolic process", - "Leukemia", + "Abnormality of metabolism/homeostasis", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "vestibulo-auditory system", + "protein-DNA complex organization", + "Abnormality of DNA repair", + "abnormal organelle organization", + "regulation of biosynthetic process", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process", + "protein-containing complex organization", + "regulation of biological process", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", + "abnormal cellular component organization", + "Chromosome breakage", + "negative regulation of gene expression", + "abnormal metabolic process", + "cellular response to stimulus", "Chromosomal breakage induced by crosslinking agents", - "organic substance metabolic process", + "metabolic process", + "cellular process", + "abnormal DNA metabolic process", + "decreased height of the anatomical entity", "regulation of cellular process", - "regulation of metabolic process", - "Vascular skin abnormality", "negative regulation of biological process", - "Generalized abnormality of skin", "nucleobase-containing compound metabolic process", "organic cyclic compound metabolic process", + "Duplicated collecting system", + "macromolecule metabolic process", "obsolete heterocycle metabolic process", - "immaterial entity", "obsolete cellular aromatic compound metabolic process", "obsolete cellular nitrogen compound metabolic process", - "response to stress", "cellular component organization", - "regulation of biosynthetic process", - "regulation of cellular metabolic process", - "negative regulation of cellular process", - "organelle organization", - "regulation of gene expression", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", "negative regulation of macromolecule biosynthetic process", "negative regulation of cellular biosynthetic process", - "programmed DNA elimination", - "cellular metabolic process", - "negative regulation of gene expression", - "Chromosome breakage", - "regulation of cellular biosynthetic process", - "negative regulation of biosynthetic process", - "negative regulation of macromolecule metabolic process", - "negative regulation of cellular metabolic process", - "DNA metabolic process", - "decreased multicellular organism mass", - "growth", - "increased biological_process in skin of body", + "chromatin organization", + "abnormal chromatin organization", "abnormal growth", - "Hearing impairment", - "Decreased body weight", - "Small for gestational age", "Decreased multicellular organism mass", - "visual system", - "manual digit 1 phalanx", - "chromatin organization", + "abnormality of multicellular organism mass", + "abnormal cell cycle", + "Duplication of thumb phalanx", + "abnormality of anatomical entity mass", + "decreased anatomical entity mass", + "abnormal size of eyeball of camera-type eye", + "abnormal face morphology", + "Abnormal eye morphology", + "abnormal orbital region", + "Abnormality of the face", + "simple eye", "sensory system", - "eye", - "face", - "orbital region", - "Aplasia/Hypoplasia affecting the eye", - "Microphthalmia", - "subdivision of head", - "entire sense organ system", - "abnormal pigmentation in independent continuant", - "abnormal eyeball of camera-type eye", - "changed biological_process rate in independent continuant", + "Abnormality of the eye", + "abnormal face", + "sense organ", "eyeball of camera-type eye", "camera-type eye", - "negative regulation of metabolic process", + "Microphthalmia", + "orbital region", + "Abnormality of the orbital region", + "abnormal eyeball of camera-type eye", "abnormal camera-type eye morphology", - "Abnormality of globe size", - "Abnormality of the eye", - "primary metabolic process", - "abnormal enucleated reticulocyte morphology", - "abnormal vasculature", - "Abnormal reticulocyte morphology", - "Complete duplication of thumb phalanx", - "abnormal number of anatomical enitites of type reticulocyte", - "anatomical line between pupils", + "decreased size of the eyeball of camera-type eye", + "visual system", "abnormally decreased number of reticulocyte", - "Short finger", - "decreased size of the anatomical entity in the pectoral complex", - "decreased size of the anatomical entity in the independent continuant", - "decreased length of manual digit", - "sensory perception", - "decreased length of anatomical entity", - "decreased length of manual digit 1", - "Short digit", - "autopod endochondral element", - "autopod bone", - "phalanx of manus", - "decreased length of anatomical entity in independent continuant", - "decreased length of digit", - "decreased size of the anatomical entity", - "abnormal number of anatomical enitites of type sperm", - "abnormality of male reproductive system physiology", - "gamete", - "semen", - "developmental process", - "abnormal pigmentation", - "reproductive process", - "Abnormal internal genitalia", - "Abnormal testis morphology", - "developmental process involved in reproduction", + "reticulocyte", "multicellular organismal reproductive process", - "abnormal reproductive process", - "decreased qualitatively developmental process", - "absent anatomical entity in the semen", - "gamete generation", - "abnormal male reproductive system morphology", - "spermatogenesis", - "absent sperm", - "abnormally localised testis", - "abnormal multicellular organismal reproductive process", - "absent gamete", - "manual digit bone", - "decreased spermatogenesis", - "abnormal male reproductive system", - "abnormal metabolic process", - "changed biological_process rate", - "decreased qualitatively sensory perception of sound", - "absent sperm in the semen", - "obsolete multicellular organism reproduction", - "Azoospermia", - "Abnormality of the male genitalia", - "sperm", - "external genitalia", - "anatomical cluster", - "internal genitalia", - "abnormal reproductive system morphology", - "decreased qualitatively biological_process", - "Abnormal spermatogenesis", - "abnormal internal genitalia", - "external male genitalia", - "abnormal external male genitalia", - "decreased qualitatively reproductive process", - "decreased developmental process", - "abnormal developmental process", - "abnormality of internal male genitalia physiology", - "abnormal gamete generation", - "abnormal heart morphology", - "abnormal external genitalia", - "abnormal developmental process involved in reproduction", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "abnormal orbital region", - "bone marrow cell", - "obsolete nitrogen compound metabolic process", - "platelet", - "biogenic amine secreting cell", - "Short thumb", - "germ line cell", - "bone cell", - "sexual reproduction", - "anucleate cell", - "abnormal male reproductive organ morphology", - "bone marrow", - "secretory cell", - "manual digit phalanx endochondral element", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", - "abnormal bone marrow cell morphology", - "Abnormality of bone marrow cell morphology", - "decreased biological_process", - "serotonin secreting cell", - "Abnormal platelet morphology", - "abnormally decreased number of platelet", - "tissue", - "abnormal platelet", + "Non-obstructive azoospermia", + "axial skeleton plus cranial skeleton", + "abnormality of anatomical entity physiology", "abnormal hematopoietic system morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal blood cell morphology", - "male gamete generation", - "zeugopodial skeleton", - "aplastic forelimb zeugopod bone", - "absent forelimb zeugopod bone", - "sensory perception of mechanical stimulus", - "Aplasia involving forearm bones", - "abnormal limb long bone morphology", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "vestibulo-auditory system", - "absent germ cell", - "forelimb endochondral element", - "abnormal forelimb zeugopod bone", - "body part movement", - "absent radius bone in the forelimb", - "manual digit 1 digitopodial skeleton", - "abnormal forelimb zeugopod morphology", - "abnormal long bone morphology", - "Abnormal forearm bone morphology", - "behavior process", - "Aplasia/hypoplasia involving forearm bones", - "enucleated reticulocyte", - "quality", - "forelimb zeugopod bone", - "Atypical behavior", + "Abnormality of mental function", + "abnormal cardiovascular system morphology", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "Duplication of hand bones", + "abnormal nitrogen compound metabolic process", + "nervous system process", + "system process", + "Male infertility", + "abnormal limb morphology", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "organ", + "cellular response to stress", + "appendicular skeleton", + "upper limb segment", + "appendicular skeletal system", + "arm", + "endochondral bone", + "subdivision of skeleton", + "Abnormal cardiovascular system physiology", "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "abnormally decreased number of myeloid cell in the independent continuant", - "limb long bone", - "radius bone", - "long bone", - "abnormal blood circulation", - "bone of free limb or fin", - "Abnormal morphology of the radius", - "Absent forearm bone", - "shape kidney", - "abnormally decreased number of anatomical entity", - "Hypogonadism", - "Abnormal forearm morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "absent kidney in the renal system", - "absent kidney", - "Anemia", - "abnormal erythroid lineage cell morphology", - "nucleic acid metabolic process", - "Absent radius", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "abnormal DNA metabolic process", - "abnormal chromatin organization", - "forelimb", - "abnormal anatomical entity morphology in the skeleton of manus", + "entity", + "negative regulation of cellular process", + "abnormal limb", + "manus", + "head", + "abnormal digit", + "thoracic segment of trunk", + "Abnormal appendicular skeleton morphology", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "system", + "aplasia or hypoplasia of manual digit 1", + "bone of appendage girdle complex", + "Abnormal finger phalanx morphology", + "pigmentation", + "genitourinary system", + "decreased qualitatively reproductive process", + "abnormal limb bone morphology", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal number of anatomical enitites of type granulocyte", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", "autopodial skeleton", - "abnormal anatomical entity", - "motile cell", + "occurrent", + "abnormal male reproductive organ morphology", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "abnormal autopod region morphology", + "Absent thumb", + "paired limb/fin skeleton", + "Neurodevelopmental abnormality", + "subdivision of organism along appendicular axis", + "Abnormal male reproductive system physiology", + "digit plus metapodial segment", + "Cognitive impairment", + "abnormal male reproductive system", "paired limb/fin", - "abnormal anatomical entity morphology in the manus", - "pectoral appendage", - "abnormal anatomical entity morphology in the pectoral complex", - "central nervous system", - "absent anatomical entity", + "anatomical collection", + "All", + "increased qualitatively biological_process", + "Aplasia involving bones of the extremities", + "forelimb", + "Abnormal forebrain morphology", + "abnormal digit morphology", "abnormal manus", - "Finger aplasia", - "digitopodium region", "multi-limb segment region", - "abnormal immune system morphology", - "radius endochondral element", - "trunk", + "endochondral element", + "bone element", + "Abnormality of the ear", + "abnormally decreased number of leukocyte", + "digit", + "Hyperpigmentation of the skin", + "manual digit plus metapodial segment", + "abnormal skeletal system", "digit 1 plus metapodial segment", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "male reproductive system", - "abnormal cell morphology", - "limb bone", - "abnormal arm", - "Abnormality of skull size", + "limb", + "Neoplasm by anatomical site", + "Decreased anatomical entity mass", + "Abnormality of the upper limb", + "cell", + "absent anatomical entity in the renal system", + "skeleton", + "male gamete generation", + "absent anatomical entity", + "regulation of metabolic process", + "Decreased body weight", + "autopodial extension", + "manual digit 1", + "abnormal immune system morphology", + "skeletal system", + "motile cell", + "Abnormality of limbs", + "Abnormality of limb bone morphology", "Abnormal digit morphology", + "multicellular organismal process", + "Aplasia/hypoplasia involving forearm bones", + "segment of manus", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal cellular metabolic process", + "musculoskeletal system", + "abnormal upper urinary tract", + "abnormally decreased number of myeloid cell", + "aplastic anatomical entity", + "face", "aplasia or hypoplasia of manual digit", - "Abnormal platelet count", - "absent anatomical entity in the skeletal system", - "abnormal forelimb morphology", - "autopodial extension", - "abnormal platelet morphology", - "Abnormality of reproductive system physiology", - "digit plus metapodial segment", - "erythrocyte", - "abnormal limb bone morphology", - "Aplasia/hypoplasia involving bones of the hand", - "G2 phase", - "manual digitopodium region", - "skeleton of digitopodium", - "skeleton of pectoral complex", - "abnormal appendicular skeleton morphology", - "Eumetazoa", - "segment of autopod", - "Abnormality of thrombocytes", - "forelimb bone", - "shape anatomical entity", - "Subcutaneous hemorrhage", - "regional part of nervous system", - "abnormal head", - "digit 1", - "Abnormal erythroid lineage cell morphology", - "male reproductive organ", - "reproductive structure", - "cell cycle", - "abnormal reproductive system", - "manual digit 1 or 5", - "Aplasia involving bones of the upper limbs", - "system", - "subdivision of organism along main body axis", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the hand", - "Abnormal hand morphology", - "abnormal manual digit morphology in the independent continuant", - "aplasia or hypoplasia of skeleton", + "Aplasia/hypoplasia of the extremities", "forelimb skeleton", - "Intellectual disability", - "absent manual digit", - "digit 1 or 5", - "arm", - "Short stature", - "Abnormality of limb bone", - "abnormal size of eyeball of camera-type eye", - "abnormal face", - "aplastic anatomical entity", - "abnormal eye movement", - "subdivision of organism along appendicular axis", - "cellular response to stress", - "absent anatomical entity in the independent continuant", - "agenesis of anatomical entity", - "bone of appendage girdle complex", - "manual digit", - "Abnormality of limb bone morphology", - "glandular system", - "skull", "endocrine system", - "abnormal endocrine system", - "Abnormality of the cell cycle", - "Abnormal appendicular skeleton morphology", - "renal system", + "abnormally decreased functionality of the anatomical entity", + "agenesis of anatomical entity", + "abnormal anatomical entity morphology in the manus", + "cardiovascular system", + "acropodium region", + "Intellectual disability", + "bone marrow", + "skeleton of manus", + "skeleton of limb", + "Abnormality of skin pigmentation", + "Aplasia involving forearm bones", + "anatomical system", + "material anatomical entity", "Hypergonadotropic hypogonadism", - "reproductive organ", - "increased pigmentation", - "decreased anatomical entity mass", - "anatomical entity dysfunction in independent continuant", - "Male infertility", - "endochondral bone", - "abnormal limb bone", - "abnormally decreased functionality of the gonad", - "Infertility", - "digit 1 digitopodial skeleton", - "gonad", - "regional part of brain", - "abnormality of reproductive system physiology", - "heart", - "upper limb segment", - "Abnormality of the genital system", - "increased pigmentation in skin of body", - "manual digit 1", - "cellular process", - "Abnormality of metabolism/homeostasis", - "Bruising susceptibility", - "cellular component organization or biogenesis", - "Abnormality of the face", - "Phenotypic abnormality", - "abnormal digit morphology", - "Abnormality of the genitourinary system", - "cell cycle phase", - "decreased size of the eyeball of camera-type eye", - "appendage girdle complex", + "abnormal enucleated reticulocyte morphology", + "nucleate cell", + "decreased qualitatively sensory perception of sound", "abnormal anatomical entity topology in independent continuant", - "limb segment", + "sexual reproduction", + "organ system subdivision", + "abnormal blood cell", + "erythrocyte", "Macule", - "Abnormality of the cardiovascular system", - "abnormal biological_process", - "skin of body", - "multi-tissue structure", - "Abnormal cellular physiology", - "Aplasia/hypoplasia of the extremities", - "biological phase", - "obsolete cell", - "interphase", - "Prolonged G2 phase of cell cycle", - "upper urinary tract", - "skeletal system", - "abnormally decreased functionality of the anatomical entity", - "abnormal ear", - "abdominal segment element", - "abnormal cell cycle", - "Abnormality of the upper limb", - "absent anatomical entity in the limb", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "DNA repair", - "Abnormality of the skeletal system", - "digit", - "abdominal segment of trunk", - "abnormal renal collecting system", - "Abnormal cellular immune system morphology", - "Duplicated collecting system", - "testis", - "craniocervical region", - "abnormal cellular process", - "abnormal programmed DNA elimination by chromosome breakage", - "Abnormal leukocyte morphology", - "Abnormality of brain morphology", - "Abnormal upper limb bone morphology", - "abnormally decreased number of leukocyte", - "skeletal element", - "Abnormality of mental function", - "Abnormality of the head", - "Abnormal reproductive system morphology", - "Pancytopenia", - "Morphological central nervous system abnormality", - "manus bone", - "Absent thumb", - "skeleton", - "zeugopod", - "abnormal anatomical entity morphology in the brain", + "renal system", + "abnormal kidney morphology", + "main body axis", + "decreased spermatogenesis", + "quality", + "abnormal manus morphology", + "abnormally decreased number of hematopoietic cell", + "phenotype by ontology source", + "excretory system", + "bone marrow cell", + "circulatory system", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "abnormal myeloid cell morphology", + "increased biological_process", + "Abnormality of the nervous system", + "abnormality of internal male genitalia physiology", + "absent digit", + "phenotype", + "Abnormal cell morphology", + "abnormal arm", + "Atypical behavior", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormal renal system", + "Abnormality of the upper urinary tract", + "hemolymphoid system", + "Aplasia/hypoplasia involving the skeleton", + "abdomen element", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "DNA damage response", + "lateral structure", + "abnormal vasculature", "abnormal genitourinary system", - "abnormal axial skeleton plus cranial skeleton morphology", - "Abnormality of body weight", - "abnormal telencephalon morphology", - "abnormal brain morphology", - "aplasia or hypoplasia of telencephalon", - "abnormal autopod region morphology", - "absent radius bone", - "compound organ", - "autopod region", - "abnormally localised anatomical entity in independent continuant", - "musculoskeletal system", - "organism", - "postcranial axial skeletal system", - "paired limb/fin skeleton", + "changed developmental process rate", "Abnormal cerebral morphology", - "Non-obstructive azoospermia", + "abnormal blood circulation", + "arm bone", + "Short thumb", + "enucleated reticulocyte", + "Abnormality of the kidney", + "abnormal anatomical entity", + "Small for gestational age", + "Abnormal forearm morphology", + "abnormal immune system", + "abnormality of anatomical entity height", + "subdivision of organism along main body axis", + "abnormal leukocyte morphology", + "anatomical line between pupils", + "independent continuant", + "abnormal renal system morphology", + "abnormal forelimb morphology", + "abnormal location of anatomical entity", + "absent kidney in the renal system", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "reproduction", + "trunk region element", + "cell cycle", + "pectoral complex", + "Anemic pallor", "absent anatomical entity in the multicellular organism", - "anterior region of body", - "Abnormality of the integument", - "paired limb/fin segment", - "abnormally decreased number of neutrophil", - "granulocyte", - "abnormally decreased number of hematopoietic cell", - "Eukaryota", - "forebrain", - "Abnormality of multiple cell lineages in the bone marrow", - "anatomical collection", - "abnormal skull morphology", - "appendicular skeleton", - "Abnormal axial skeleton morphology", - "behavior", - "blood cell", - "erythroid lineage cell", - "abnormal size of anatomical entity", "hematopoietic system", - "abnormal forebrain morphology", - "haploid cell", - "Abnormal renal morphology", - "Abnormality of limbs", + "thoracic cavity element", + "Abnormal cellular immune system morphology", + "Abnormal nervous system physiology", + "Abnormality of the immune system", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "skeletal element", + "zeugopod", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "external genitalia", + "renal collecting system", + "Ectopic kidney", + "subdivision of head", + "appendage girdle complex", + "Renal hypoplasia/aplasia", + "abnormality of ear physiology", + "absent anatomical entity in the forelimb", "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "root", - "Abnormal neutrophil count", - "increased biological_process", - "reticulocyte", - "abnormal central nervous system morphology", - "abnormal organelle organization", - "abnormal head morphology", - "head", - "abnormally decreased number of granulocyte", - "abnormal sensory perception", - "Neurodevelopmental abnormality", + "cellular metabolic process", + "Abnormality of neutrophils", + "leukocyte", + "abnormal gamete generation", + "decreased multicellular organism mass", + "Aplasia/Hypoplasia involving the central nervous system", + "continuant", + "abnormal neutrophil", + "ectoderm-derived structure", + "structure with developmental contribution from neural crest", + "phalanx of manus", + "negative regulation of biosynthetic process", + "material entity", + "long bone", + "regional part of nervous system", "Abnormal conjugate eye movement", - "process", - "organ system subdivision", - "Abnormal skull morphology", - "Neoplasm", - "abnormal bone marrow cell", - "system process", - "Abnormal granulocyte morphology", + "forelimb bone", + "non-connected functional system", + "abdominal segment element", + "abnormal reproductive system morphology", + "abnormal hematopoietic system", + "Renal agenesis", "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", + "gamete generation", + "Aplasia/Hypoplasia of the thumb", + "bone cell", "biological_process", - "subdivision of skeleton", - "circulatory system", - "sense organ", - "subdivision of skeletal system", - "aplasia or hypoplasia of radius bone", - "main body axis", - "cellular organisms", - "telencephalon", - "manual digit 1 plus metapodial segment", - "Duplication of bones involving the upper extremities", - "abnormal postcranial axial skeleton morphology", - "Thrombocytopenia", - "abnormal craniocervical region morphology", - "abnormal skin of body", - "absent anatomical entity in the forelimb", - "All", - "Abnormal heart morphology", - "Renal hypoplasia/aplasia", - "abnormal number of anatomical enitites of type anatomical entity", - "Decreased fertility", - "integument", - "viscus", - "integumental system", - "multicellular organismal process", - "Decreased anatomical entity mass", - "Abnormality of skin morphology", - "Abnormality of the skin", - "male gamete", - "ectoderm-derived structure", - "organism substance", - "Aplasia/Hypoplasia involving the central nervous system", - "protein-DNA complex organization", - "organ", - "programmed DNA elimination by chromosome breakage", - "abnormal bone marrow morphology", + "myeloid leukocyte", + "entire sense organ system", + "absent radius bone in the independent continuant", + "Abnormal localization of kidney", + "biological regulation", + "abdominal segment of trunk", + "abnormal central nervous system morphology", + "abnormal renal collecting system", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal phenotype by ontology source", + "Abnormal thumb morphology", + "subdivision of trunk", + "absent manual digit", + "manual digit 1 digitopodial skeleton", + "regulation of gene expression", + "pectoral appendage", + "body proper", + "cognition", + "appendage", + "root", + "abnormally localised anatomical entity in independent continuant", + "abnormality of nervous system physiology", "organism subdivision", - "abnormal gamete", - "Abnormal nervous system physiology", - "thoracic cavity element", - "Abnormality of the kidney", - "Cryptorchidism", - "abnormal leukocyte morphology", + "abnormally decreased number of myeloid cell in the independent continuant", + "cranial skeletal system", + "Abnormal eye physiology", + "segment of autopod", + "reproductive system", + "aplastic manual digit 1", + "skeleton of pectoral complex", "abnormally localised anatomical entity", - "non-connected functional system", - "cavitated compound organ", - "Abnormality of the musculoskeletal system", - "abnormal size of skull", - "abnormal limb", - "trunk region element", - "pectoral complex", - "abnormal hematopoietic system", - "Anemic pallor", - "absent anatomical entity in the renal system", - "abdomen", - "acropodial skeleton", - "abnormal kidney", - "nervous system process", - "body proper", - "forelimb zeugopod", + "hematopoietic cell", + "abnormally decreased number of granulocyte", + "abnormal hematopoietic cell morphology", + "viscus", + "Abnormal granulocyte morphology", + "Abnormal cellular phenotype", + "abnormal limb bone", "Abnormal nervous system morphology", - "genitourinary system", - "abnormality of anatomical entity mass", - "abnormal cell", - "bone element", + "Complete duplication of phalanx of hand", + "limb bone", + "granulocyte", + "abnormal number of anatomical enitites of type anatomical entity", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "paired limb/fin segment", + "abnormality of camera-type eye physiology", + "immune system", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal manual digit 1 morphology", + "Absent forearm bone", + "Leukemia", + "abnormal cell morphology", "abnormal nervous system morphology", - "abnormal cardiovascular system morphology", - "Abnormal eye morphology", - "Abnormality of head or neck", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/hypoplasia involving bones of the extremities", - "skeleton of manual digitopodium", - "axial skeletal system", - "abnormality of nervous system physiology", - "Abnormality of the upper urinary tract", - "regulation of biological process", - "Abnormal thumb morphology", - "oxygen accumulating cell", - "Abnormal localization of kidney", - "subdivision of trunk", - "abdomen element", - "Abnormal renal collecting system morphology", - "male germ cell", - "limb", - "lateral structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "phenotype", - "abnormal renal system", - "postcranial axial skeleton", - "abnormally localised kidney", - "absent digit", - "Abnormality of blood and blood-forming tissues", - "anatomical structure", - "Abnormality of the urinary system", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "blood cell", + "Abnormality of the genitourinary system", + "forebrain", + "Abnormality of the cardiovascular system", "Abnormal myeloid cell morphology", - "manual digitopodium bone", - "abnormal skeletal system morphology", - "absent sperm in the independent continuant", + "U-shaped kidney", + "digit 1 or 5", + "skeleton of manual digitopodium", + "primary circulatory organ", + "neutrophil", + "Complete duplication of thumb phalanx", + "manual digit 1 phalanx", + "abnormal forelimb zeugopod bone", + "Abnormal myeloid leukocyte morphology", + "Pancytopenia", + "abnormal head", + "organism", + "programmed DNA elimination", + "obsolete cell", "internal male genitalia", - "occurrent", - "Metazoa", - "Cognitive impairment", - "abnormal integument", - "abnormal nervous system", - "abnormal cellular component organization", - "appendicular skeletal system", - "Abnormality of the nervous system", - "abnormal cellular metabolic process", - "acropodium region", - "pectoral appendage skeleton", - "nucleate cell", - "Abnormality of the orbital region", - "Abnormal cellular phenotype", - "entity", - "abnormal number of anatomical enitites of type hematopoietic cell", - "pigmentation", - "myeloid leukocyte", - "germ cell", - "abnormal spermatogenesis", - "segment of manus", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "absent kidney in the independent continuant", - "manual digit plus metapodial segment", - "phalanx endochondral element", - "limb skeleton subdivision", - "abnormal craniocervical region", - "Microcephaly", - "immune system", - "abnormal neutrophil", - "abnormal blood cell", - "increased biological_process in independent continuant", + "Abnormal granulocyte count", + "eye", + "compound organ", + "zeugopodial skeleton", + "limb long bone", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "abnormal anatomical entity morphology in the pectoral complex", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "abnormal developmental process involved in reproduction", "Functional abnormality of male internal genitalia", - "abnormally decreased number of cell in the independent continuant", + "circulatory system process", + "cavitated compound organ", + "Abnormal leukocyte count", + "manual digit 1 plus metapodial segment", + "abdomen", + "limb endochondral element", "abnormally decreased number of cell", - "cranial skeletal system", - "abnormal bone of pectoral complex morphology", - "Hematological neoplasm", - "Aplasia/Hypoplasia of fingers", - "leukocyte", + "abnormal myeloid leukocyte morphology", + "increased qualitatively biological_process in independent continuant", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "abnormal nervous system", + "biological phase", + "autopod bone", "mesoderm-derived structure", - "macromolecule metabolic process", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "gonad", + "multi-tissue structure", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "abnormally decreased number of granulocyte in the independent continuant", + "Abnormal skull morphology", + "abnormal craniocervical region morphology", + "immaterial entity", + "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", + "Abnormality of body weight", + "aplasia or hypoplasia of telencephalon", + "limb skeleton subdivision", + "skull", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "absent sperm in the semen", "bone of pectoral complex", - "abnormal upper urinary tract", - "specifically dependent continuant", - "abnormal anatomical entity length", - "abnormal number of anatomical enitites of type cell", - "abnormal digit", - "abnormal number of anatomical enitites of type neutrophil", - "abnormality of anatomical entity physiology", - "Puberty and gonadal disorders", - "Abnormal immune system morphology", - "abnormal nitrogen compound metabolic process", - "abnormal immune system", - "abnormally decreased number of myeloid cell", - "Abnormality of blood circulation", - "excretory system", - "skeleton of limb", + "decreased length of anatomical entity", + "autopod endochondral element", + "Abnormality of limb bone", + "central nervous system", + "regional part of brain", + "craniocervical region", + "Abnormality of head or neck", + "abnormal kidney", + "abnormal reproductive system", + "abnormal head morphology", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "spermatogenesis", + "abnormal telencephalon morphology", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "manual digit 1 phalanx endochondral element", + "tissue", + "absent anatomical entity in the semen", + "Abnormality of brain morphology", "nervous system", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "protein-containing complex organization", - "abnormal granulocyte morphology", - "Decreased head circumference", - "hematopoietic cell", - "regulation of macromolecule metabolic process", - "continuant", - "aplastic manual digit 1", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal myeloid leukocyte morphology", - "abnormal manual digit morphology in the manus", - "Ectopic kidney", - "hemolymphoid system", - "forelimb long bone", - "abnormal manus morphology", - "cell", - "phenotype by ontology source", - "metabolic process", - "abnormal phalanx morphology", - "myeloid cell", - "Neutropenia", - "abnormal skeletal system", - "disconnected anatomical group", - "abnormal number of anatomical enitites of type granulocyte", - "changed developmental process rate", - "neutrophil", - "abnormal cellular response to stress", - "independent continuant", - "Aplasia/hypoplasia involving the skeleton", - "Abnormal granulocyte count", - "abnormal hematopoietic cell morphology", - "abnormal limb morphology", - "brain", - "Abnormal external genitalia", - "Abnormal leukocyte count", - "Renal agenesis", - "Pallor", + "forelimb zeugopod bone", + "kinesthetic behavior", + "Eumetazoa", + "Infertility", + "negative regulation of cellular metabolic process", + "Eukaryota", + "decreased length of manual digit", + "abnormal forebrain morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "telencephalon", "Growth abnormality", - "abnormal renal system morphology", - "arm bone", - "abnormal anatomical entity morphology", - "Abnormality of the immune system", - "Aplasia involving bones of the extremities", - "aplasia or hypoplasia of anatomical entity", - "3-D shape anatomical entity in independent continuant", - "anatomical system", - "Abnormality of the endocrine system", - "abnormal kidney morphology", - "immaterial anatomical entity", - "Abnormal bleeding", - "blood circulation", - "endochondral element", - "Abnormality of neutrophils", - "structure with developmental contribution from neural crest", - "renal collecting system", - "Abnormality of skin pigmentation", - "abnormally decreased number of granulocyte in the independent continuant", - "simple eye", + "axial skeletal system", + "abnormal skull morphology", + "reproductive organ", + "abnormal number of anatomical enitites of type reticulocyte", + "decreased developmental process", + "postcranial axial skeleton", + "Abnormal renal collecting system morphology", + "decreased qualitatively developmental process", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "changed biological_process rate in independent continuant", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "Decreased head circumference", + "abnormal size of anatomical entity", + "Abnormality of thrombocytes", + "Abnormal renal morphology", + "abnormal external genitalia", + "Abnormal axial skeleton morphology", + "non-material anatomical boundary", + "erythroid lineage cell", + "Abnormal reproductive system morphology", + "abnormal cardiovascular system", + "thoracic segment organ", + "Abnormal finger morphology", + "Abnormal erythrocyte morphology", + "circulatory organ", + "heart plus pericardium", + "Cryptorchidism", + "Abnormality of cardiovascular system morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "abnormal heart morphology", + "abnormal integument", + "Cafe-au-lait spot", "abnormally decreased number of anatomical entity in the independent continuant", - "axial skeleton plus cranial skeleton", - "Abnormal skeletal morphology", - "limb endochondral element", - "anatomical entity", + "abnormal anatomical entity morphology", + "increased pigmentation", + "Neutropenia", + "reproductive structure", + "changed biological_process rate", + "increased biological_process in skin of body", + "absent germ cell", + "decreased size of the anatomical entity", + "abnormal biological_process in independent continuant", + "abnormal skin of body", + "Abnormality of the integument", + "Abnormality of bone marrow cell morphology", + "Growth delay", + "kidney", + "abnormal biological_process", + "Abnormality of skin morphology", + "integumental system", + "integument", + "absent radius bone in the forelimb", + "increased biological_process in independent continuant", "abnormal skin of body morphology", - "absent radius bone in the independent continuant", - "abnormality of multicellular organism mass", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "primary metabolic process", + "forelimb endochondral element", + "Abnormality of the skin", + "germ line cell", + "abnormal pigmentation in independent continuant", + "Abnormal forearm bone morphology", + "increased pigmentation in independent continuant", + "organic substance metabolic process", + "Abnormality of the head", + "heart", + "abnormal pigmentation", + "Abnormal heart morphology", + "abnormality of reproductive system physiology", + "limb segment", + "absent sperm", + "Abnormality of the genital system", + "Abnormality of reproductive system physiology", + "gamete", + "Abnormality of the endocrine system", + "abnormal endocrine system", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "Puberty and gonadal disorders", + "glandular system", + "male gamete", + "abnormally decreased functionality of the gonad", + "oxygen accumulating cell", + "abnormal erythrocyte morphology", + "manus bone", + "radius bone", + "Abnormality of the hand", + "Anemia", + "abnormal shape of continuant", + "trunk", + "abnormal bone marrow cell", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", + "absent kidney", + "subdivision of skeletal system", + "abnormally decreased number of neutrophil", + "absent kidney in the independent continuant", + "forelimb zeugopod skeleton", + "forelimb zeugopod", + "abnormal testis morphology", + "Aplasia involving bones of the upper limbs", "eukaryotic cell", - "appendage", - "U-shaped kidney", - "material anatomical entity", - "material entity", - "reproduction", - "Decreased fertility in males", - "kinesthetic behavior", - "abnormal number of anatomical enitites of type myeloid cell", - "multicellular organism", - "kidney", + "abnormal limb long bone morphology", + "absent forelimb zeugopod bone", + "Pallor", + "abnormal bone of pectoral complex morphology", + "absent radius bone", + "abnormal behavior", + "radius endochondral element", + "abnormal radius bone morphology", + "Absent radius", + "aplastic forelimb zeugopod bone", + "abnormal size of skull", + "forelimb long bone", + "sensory perception of mechanical stimulus", + "abnormally decreased number of anatomical entity", + "skin of body", + "Abnormal upper limb bone morphology", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "3-D shape anatomical entity in independent continuant", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "abnormal cellular process", + "secretory cell", + "decreased size of the anatomical entity in the independent continuant", + "anucleate cell", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "Prolonged G2 phase of cell cycle", + "pectoral appendage skeleton", + "abnormal blood cell morphology", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "abnormal brain morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal programmed DNA elimination by chromosome breakage", + "specifically dependent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + "cellular organisms", + "Abnormal neutrophil count", + "obsolete multicellular organism reproduction", + "digit 1", + "abnormal platelet morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "Abnormality of globe size", + "abnormally decreased number of platelet", + "Abnormal platelet count", + "sensory perception", + "abnormal developmental process", + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "organelle organization", + "postcranial axial skeletal system", + "abnormal spermatogenesis", + "germ cell", + "abnormal internal genitalia", + "abnormal cell", + "disconnected anatomical group", + "male reproductive organ", + "internal genitalia", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "abnormal external male genitalia", + "haploid cell", + "abnormal gamete", "Reticulocytopenia", - "Opisthokonta", - "Abnormal myeloid leukocyte morphology", - "abnormal phenotype by ontology source", - "abnormal sensory perception of sound", - "abnormal testis morphology", - "reproductive system", - "abnormal location of anatomical entity", - "abnormal myeloid cell morphology", - "cognition", - "manus", + "interphase", + "semen", + "organism substance", + "Abnormal external genitalia", + "platelet", + "absent sperm in the independent continuant", + "male germ cell", + "abnormal granulocyte morphology", + "Azoospermia", + "male reproductive system", + "abnormal number of anatomical enitites of type sperm", + "manual digit", + "abnormal multicellular organismal reproductive process", + "anatomical entity", + "decreased qualitatively biological_process", + "testis", + "external male genitalia", + "regulation of macromolecule metabolic process", + "abnormal reproductive process", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", "male organism", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal forebrain morphology", - "Abnormal cell morphology", - "abnormally decreased number of leukocyte in the independent continuant", + "sperm", + "absent gamete", + "developmental process involved in reproduction", + "Abnormality of male external genitalia", + "abnormal male reproductive system morphology", + "Abnormal testis morphology", + "absent anatomical entity in the independent continuant", + "abnormally localised testis", + "reproductive process", + "shape kidney", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "developmental process", + "abnormal manual digit morphology in the manus", + "Abnormal internal genitalia", + "Abnormal reticulocyte morphology", + "decreased length of anatomical entity in independent continuant", + "manual digitopodium region", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "decreased length of digit", + "Short finger", + "skeleton of digitopodium", + "Short digit", + "anterior region of body", + "decreased length of manual digit 1", ], }, { @@ -1722,21 +1722,24 @@ def autocomplete_response(): ], "namespace": "MONDO", "has_phenotype": [ - "HP:0000470", - "HP:0002575", - "HP:0040012", "HP:0007018", + "HP:0040012", "HP:0008551", + "HP:0000470", "HP:0009777", "HP:0004590", + "HP:0002575", "HP:0000238", - "HP:0000316", + "HP:0000369", + "HP:0000465", + "HP:0000957", + "HP:0002023", + "HP:0000582", "HP:0001510", + "HP:0000316", "HP:0001776", - "HP:0000369", "HP:0000347", "HP:0003974", - "HP:0000465", "HP:0001511", "HP:0009892", "HP:0000151", @@ -1749,32 +1752,32 @@ def autocomplete_response(): "HP:0000054", "HP:0000437", "HP:0001903", - "HP:0000957", "HP:0000122", - "HP:0002023", "HP:0002188", - "HP:0000582", "HP:0000568", "HP:0000431", "HP:0005528", "HP:0000089", ], "has_phenotype_label": [ - "Short neck", - "Tracheoesophageal fistula", - "Chromosome breakage", "Attention deficit hyperactivity disorder", + "Chromosome breakage", "Microtia", + "Short neck", "Absent thumb", "Hypoplastic sacrum", + "Tracheoesophageal fistula", "Hydrocephalus", - "Hypertelorism", + "Low-set ears", + "Webbed neck", + "Cafe-au-lait spot", + "Anal atresia", + "Upslanted palpebral fissure", "Growth delay", + "Hypertelorism", "Bilateral talipes equinovarus", - "Low-set ears", "Micrognathia", "Absent radius", - "Webbed neck", "Intrauterine growth retardation", "Anotia", "Aplasia of the uterus", @@ -1787,11 +1790,8 @@ def autocomplete_response(): "Micropenis", "Depressed nasal tip", "Anemia", - "Cafe-au-lait spot", "Unilateral renal agenesis", - "Anal atresia", "Delayed CNS myelination", - "Upslanted palpebral fissure", "Microphthalmia", "Wide nasal bridge", "Bone marrow hypocellularity", @@ -1799,1790 +1799,1790 @@ def autocomplete_response(): ], "has_phenotype_count": 36, "has_phenotype_closure": [ - "HP:0000089", - "UPHENO:0069110", "UPHENO:0081210", - "UPHENO:0075182", - "CL:0001035", - "HP:0012145", + "UPHENO:0085195", "UPHENO:0087123", - "UBERON:0002405", - "UBERON:0002371", - "UPHENO:0002948", - "CL:0002092", - "HP:0000431", + "HP:0012145", + "HP:0005528", + "UBERON:0000479", + "HP:0005561", + "UPHENO:0087355", + "HP:0002715", + "UBERON:0008340", "UPHENO:0006161", - "HP:0000422", "UPHENO:0087278", + "UPHENO:0006147", + "UPHENO:0081800", + "HP:0000431", + "HP:0000568", "HP:0008056", "HP:0100887", - "UPHENO:0080209", - "HP:0000568", - "UPHENO:0075219", - "UPHENO:0069523", - "UPHENO:0076761", - "HP:0030669", - "UBERON:0035639", - "UBERON:0001711", - "UPHENO:0085195", - "HP:0000492", - "UBERON:0034921", - "HP:0200006", - "UPHENO:0021791", - "HP:0000582", - "GO:0008366", - "GO:0030154", - "GO:0048468", - "UPHENO:0050372", - "UPHENO:0062515", - "UPHENO:0061854", - "UPHENO:0084012", - "UPHENO:0084007", - "UPHENO:0050406", - "GO:0007272", - "HP:0002188", - "GO:0022010", - "GO:0048869", "GO:0048709", - "GO:0014003", - "GO:0007417", "GO:0007399", + "GO:0032291", + "GO:0022008", "GO:0010001", - "GO:0021782", - "UPHENO:0083951", - "UPHENO:0000553", - "UPHENO:0062527", - "HP:0011400", "HP:0012448", - "UPHENO:0083952", - "HP:0032039", - "HP:0034915", - "UBERON:0001245", - "UBERON:0000161", - "HP:0004378", - "HP:0002023", - "UPHENO:0063599", - "HP:0000079", + "GO:0048869", + "UPHENO:0000552", + "UPHENO:0050372", + "UPHENO:0076779", + "UPHENO:0087427", + "GO:0030154", "UBERON:0002113", "UBERON:0011143", + "UBERON:0000916", + "UPHENO:0083952", "UBERON:8450002", - "UPHENO:0087427", - "UPHENO:0025100", + "HP:0000122", "UPHENO:0026980", - "HP:0000104", - "UBERON:0003100", - "HP:0001317", - "UPHENO:0002803", - "UPHENO:0075902", - "HP:0002032", - "HP:0008678", - "UBERON:0001008", - "UPHENO:0088047", - "GO:0060255", - "HP:0001000", - "UBERON:0002386", - "UPHENO:0080662", - "HP:0007400", - "HP:0000951", - "UBERON:0034925", - "GO:0032502", - "HP:0001034", - "UPHENO:0076739", - "HP:0011121", - "UPHENO:0002839", - "GO:0065007", - "HP:0000957", - "UPHENO:0074589", - "UBERON:0002471", - "UPHENO:0088162", - "UPHENO:0085118", - "UBERON:0004381", + "UPHENO:0008593", + "GO:0014003", + "HP:0001877", + "HP:0012130", + "UBERON:0002390", + "UPHENO:0004459", "HP:0001903", - "UPHENO:0088170", - "UBERON:0010538", - "CL:0000764", - "UBERON:0002193", - "UPHENO:0084928", - "HP:0005607", - "UPHENO:0085068", + "UPHENO:0085118", + "HP:0020047", "CL:0000232", - "UPHENO:0082129", - "CL:0000081", - "HP:0000436", - "UPHENO:0041098", + "CL:0000763", + "UPHENO:0082467", + "UPHENO:0041458", "UPHENO:0041203", - "UBERON:0007827", - "UPHENO:0087950", + "UBERON:0000004", "UBERON:0002268", - "UPHENO:0087563", - "NBO:0000313", - "UPHENO:0041041", + "UPHENO:0087430", + "HP:0000366", + "UPHENO:0082454", + "UPHENO:0081585", "UPHENO:0082356", - "UPHENO:0021517", + "UPHENO:0041080", + "UPHENO:0075219", + "HP:0005105", + "HP:0000436", + "UPHENO:0080209", + "UPHENO:0068843", + "UBERON:0004053", + "UBERON:0008811", + "HP:0010935", "UPHENO:0002907", - "HP:0000366", - "UPHENO:0087430", - "UPHENO:0082467", - "UPHENO:0002595", "HP:0003241", - "UBERON:0003101", - "UPHENO:0081095", + "HP:0000032", "HP:0008736", - "UPHENO:0005016", + "UBERON:0001008", "UPHENO:0081320", - "UPHENO:0068843", - "UBERON:0003462", - "UPHENO:0060026", - "HP:0000050", - "UBERON:0003135", - "NCBITaxon:2759", + "UPHENO:0002948", + "UPHENO:0087643", + "UBERON:0000989", + "UBERON:0003101", + "UPHENO:0050406", + "HP:0000811", + "HP:0010461", + "HP:0000054", + "HP:0001871", "UBERON:0000079", - "UPHENO:0002597", - "HP:0009122", - "UPHENO:0076760", - "HP:0000175", - "GO:0043473", - "HP:0000315", - "HP:0011355", + "UPHENO:0087802", + "UPHENO:0075655", + "UBERON:0004089", + "UBERON:0001716", + "HP:0000202", "UBERON:0001709", - "UBERON:0000464", - "UPHENO:0086824", - "UPHENO:0033635", - "UBERON:0002428", + "UBERON:0002553", "UPHENO:0076786", - "UBERON:0001017", - "HP:5201015", - "UBERON:0012141", - "UBERON:0006983", - "UPHENO:0076785", - "UBERON:0000167", - "UBERON:0003606", - "HP:0000202", - "UBERON:0002416", - "CL:0000988", - "HP:0000953", - "HP:0000309", - "UBERON:0006717", - "CL:0000763", - "HP:0000163", - "NCBITaxon:131567", + "UPHENO:0033635", + "UBERON:0000464", + "HP:0000175", "UPHENO:0020013", - "UBERON:0011158", - "UBERON:0004733", - "UPHENO:0006147", - "UPHENO:0087585", - "HP:0011282", - "HP:0011283", - "UBERON:0002616", - "UPHENO:0080089", - "GO:0046483", + "NCBITaxon:6072", + "NCBITaxon:2759", + "UPHENO:0081601", "UBERON:0002028", - "HP:0006496", + "UBERON:0002037", + "UBERON:0001895", "NCBITaxon:33154", - "UPHENO:0087355", - "UBERON:0000481", - "HP:0011458", - "UPHENO:0041458", - "GO:0031052", - "HP:0000008", - "UPHENO:0087806", - "UBERON:0000020", - "UPHENO:0087547", - "UBERON:0004122", + "NCBITaxon:131567", + "UPHENO:0080089", + "HP:0002977", + "GO:0007417", + "UBERON:0004176", + "UBERON:0004733", + "UBERON:0004732", + "UPHENO:0076720", + "NCBITaxon:1", + "HP:0011283", + "UBERON:0000063", + "UBERON:0000073", + "HP:0011968", + "UPHENO:0063603", + "HP:0002589", + "HP:0003221", + "HP:0001263", + "UPHENO:0002642", + "HP:0000151", + "UPHENO:0020950", "UBERON:0000990", - "HP:0012243", - "UPHENO:0002598", + "UPHENO:0025875", + "UBERON:0003134", + "UBERON:0000995", + "UPHENO:0087547", "HP:0000130", - "HP:0000001", - "UPHENO:0081119", - "UBERON:0005156", - "HP:0001939", - "HP:0000812", - "UBERON:0000062", - "UBERON:0002398", - "NCBITaxon:33208", + "UPHENO:0003053", + "UBERON:0003100", + "HP:0010460", "UPHENO:0005170", - "HP:0001511", - "UBERON:0000993", - "UPHENO:0076766", - "UBERON:0000995", - "HP:0008684", - "HP:0005561", - "UBERON:0003278", - "UPHENO:0003058", - "UBERON:0000474", + "UBERON:0005156", + "UPHENO:0003055", + "UPHENO:0009305", + "UPHENO:0002832", + "UPHENO:0041098", + "UBERON:0013515", + "GO:0032502", + "UPHENO:0052778", + "CL:0001035", + "UPHENO:0050034", + "UBERON:0012128", + "GO:0009790", + "UPHENO:0005433", + "UPHENO:0080393", "UPHENO:0005642", - "UPHENO:0025875", - "UPHENO:0026954", - "UPHENO:0025708", - "UPHENO:0075655", - "UBERON:0000165", + "UPHENO:0068984", "UPHENO:0050108", - "UPHENO:0080393", - "GO:0007275", - "UPHENO:0012541", - "UBERON:0003133", - "GO:0022008", - "GO:0009790", - "UPHENO:0087339", - "UPHENO:0052178", - "HP:0000032", - "HP:0000465", - "HP:0011017", - "UPHENO:0087501", - "HP:0003953", - "UBERON:0012128", - "HP:0034261", - "HP:0012759", - "HP:0002818", - "UPHENO:0025945", - "UPHENO:0080377", - "UBERON:0002544", - "UBERON:0002495", - "UPHENO:0081511", - "UPHENO:0052778", - "UPHENO:0079872", - "UBERON:0002553", + "HP:0040070", + "UPHENO:0076718", + "HP:0006501", "UBERON:0003466", + "UBERON:0002471", "UBERON:0010741", - "HP:0000119", - "UBERON:0008962", - "UPHENO:0082454", - "UBERON:0015001", - "UPHENO:0002751", - "UBERON:0005434", - "UPHENO:0063639", + "HP:0003953", + "UPHENO:0026023", + "UBERON:0003607", + "UBERON:0001423", + "HP:0009825", + "UBERON:0002405", + "UBERON:0003606", "HP:0003974", - "UBERON:0008785", - "HP:0040072", - "UBERON:0005178", - "UPHENO:0021474", - "UBERON:0010703", - "HP:0000174", - "UBERON:0015021", - "UBERON:0011584", - "GO:0006807", + "UPHENO:0062515", + "UPHENO:0087585", + "UPHENO:0079872", + "UPHENO:0009341", + "HP:0000119", + "UPHENO:0081511", + "HP:5201015", + "HP:0009822", + "UBERON:0000167", + "UPHENO:0086956", + "HP:0025461", "UPHENO:0009399", - "HP:0000377", "HP:0009823", - "HP:0002973", - "UBERON:0015212", - "HP:0006503", - "HP:0006501", - "HP:0100886", - "UPHENO:0026128", - "UBERON:0010222", - "UBERON:0001474", - "HP:0000277", - "UPHENO:0020950", - "HP:0031816", - "UPHENO:0026984", - "UPHENO:0086595", - "UBERON:0003113", - "UBERON:0002417", - "UPHENO:0080382", - "UBERON:0007914", - "UBERON:0011595", - "UPHENO:0005597", - "UBERON:0001710", - "UBERON:0004742", - "UPHENO:0081788", - "HP:0012758", - "UPHENO:0076800", - "UBERON:0002514", - "UBERON:0001895", - "UBERON:0000073", - "UBERON:0004768", - "UBERON:0000489", - "UPHENO:0087802", - "HP:0000598", - "UPHENO:0080165", - "UBERON:0004288", - "HP:0008771", + "UBERON:0002386", + "HP:0012447", + "HP:0034261", "UBERON:0003457", - "UPHENO:0088168", - "UPHENO:0026506", + "UBERON:0003135", "HP:0009116", - "UBERON:0002090", - "UPHENO:0069391", - "UBERON:0000075", + "GO:0042063", + "HP:0000036", + "UBERON:0011156", + "GO:0007272", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0003278", + "UBERON:0003462", + "UBERON:0001684", + "UPHENO:0061854", + "UPHENO:0084457", + "HP:0009118", "HP:0011821", - "UPHENO:0088186", - "UPHENO:0081601", - "HP:0002715", - "HP:0001760", - "UPHENO:0002828", + "HP:0031816", + "UPHENO:0088116", + "UBERON:0000165", + "UBERON:0002514", + "UBERON:0007842", + "HP:0002692", "UBERON:0004756", - "UPHENO:0002536", - "HP:0000122", - "HP:0009118", - "UPHENO:0075195", - "UBERON:0010364", - "UPHENO:0083646", - "UPHENO:0025211", + "UBERON:0010313", "UBERON:0003129", - "UBERON:0001708", - "UBERON:0011156", - "UBERON:0001423", - "UBERON:0003126", - "UBERON:0001684", - "UPHENO:0081566", + "UBERON:0004742", + "UPHENO:0083646", + "UPHENO:0081314", + "UBERON:0000489", + "UBERON:0010323", + "HP:0030791", + "UBERON:0007375", "UBERON:0012360", - "UPHENO:0080087", - "UPHENO:0081783", - "UBERON:0003134", - "UPHENO:0081784", - "HP:0001776", - "UBERON:0000978", - "HP:0005656", - "UBERON:0002037", - "UPHENO:0086628", - "HP:0001883", - "UPHENO:0050034", - "UPHENO:0084761", - "UPHENO:0003070", - "UBERON:0004053", - "HP:0001762", - "UBERON:0002387", - "NCBITaxon:6072", - "UBERON:0008340", + "HP:0000163", "UBERON:0002103", - "GO:0048731", - "HP:0001871", - "UBERON:0004732", - "HP:0001507", - "HP:0000078", - "GO:0040007", - "GO:0048856", - "UPHENO:0080585", - "UPHENO:0003055", - "UPHENO:0000541", - "HP:0001510", - "HP:0000271", - "UPHENO:0026023", + "HP:0000309", + "UBERON:0004375", + "HP:0002188", + "UPHENO:0033572", + "HP:0009815", + "UPHENO:0088186", + "UBERON:0000075", + "UPHENO:0002901", + "UPHENO:0080126", "UBERON:0004765", - "HP:0000929", - "UPHENO:0076730", - "UBERON:0000047", - "UPHENO:0009305", - "UBERON:5001463", - "UBERON:0000019", - "UBERON:0002104", - "UBERON:0000916", - "HP:0010938", - "UPHENO:0003085", - "UBERON:0001440", - "HP:0000811", - "UBERON:0000970", - "UBERON:0004088", - "UBERON:0000015", - "UPHENO:0055730", - "UPHENO:0018424", - "UPHENO:0087974", - "UPHENO:0065599", - "UPHENO:0001072", - "GO:0034641", - "UBERON:0004121", - "UBERON:0003607", - "UPHENO:0076805", - "UBERON:0003947", - "HP:0002118", - "HP:0005528", - "HP:0012443", - "BFO:0000004", - "HP:0002921", - "UBERON:0003828", - "UPHENO:0002880", - "UPHENO:0076791", - "UPHENO:0041080", - "UPHENO:0056072", - "UPHENO:0088185", - "UPHENO:0087478", - "UBERON:0000955", - "HP:0012639", - "UBERON:0005358", - "UPHENO:0001003", - "UPHENO:0080196", - "UBERON:0000463", - "UBERON:0001444", - "UPHENO:0056237", - "BFO:0000002", - "UPHENO:0002910", - "HP:0009121", - "HP:0009892", - "HP:0002011", - "UPHENO:0075997", - "UPHENO:0086644", - "UBERON:0004923", - "UBERON:0000060", - "UPHENO:0020659", - "UPHENO:0087433", - "UBERON:0005179", - "UPHENO:0002833", - "UBERON:0010707", - "UBERON:0003690", - "UBERON:0000915", - "UPHENO:0002832", - "HP:0004590", - "UPHENO:0054970", - "HP:0000316", - "UBERON:0003460", - "UBERON:0002412", - "GO:0048523", - "UPHENO:0076695", - "GO:0050794", - "UBERON:0002097", - "UPHENO:0087472", - "GO:0042063", - "BFO:0000020", - "UBERON:0001270", - "UBERON:0005173", - "UBERON:0006072", - "UPHENO:0080171", - "HP:0000238", - "GO:0009889", - "UPHENO:0078606", - "UPHENO:0002896", - "HP:0045060", - "HP:0012130", - "UBERON:0005881", + "UBERON:0000467", + "UPHENO:0060026", + "UPHENO:0088162", + "UBERON:0004710", + "HP:0002031", "HP:0001167", - "UBERON:0010740", - "HP:0009380", - "HP:0002817", - "UBERON:0002389", - "UBERON:0010363", - "UPHENO:0076735", - "UPHENO:0076740", - "UPHENO:0081790", - "HP:0009777", - "UPHENO:0080325", - "UBERON:0012354", - "UBERON:0012140", - "HP:0001263", - "UBERON:0002355", - "GO:0032501", - "UBERON:0005451", - "HP:0010460", - "UPHENO:0086635", "UBERON:0004120", - "HP:0001172", - "UPHENO:0003053", - "UBERON:0002091", - "UPHENO:0003020", - "UBERON:0010712", - "HP:0000077", - "UPHENO:0080114", - "UBERON:0012475", - "UPHENO:0081099", - "HP:0009822", - "UBERON:0004375", - "UBERON:0004176", - "UBERON:0013522", + "UPHENO:0008523", + "UPHENO:0006910", + "UBERON:0015021", + "UBERON:0001708", + "UPHENO:0003074", + "UBERON:0005451", + "UBERON:0000026", "UBERON:0007272", - "GO:0006139", - "HP:0001155", - "UBERON:0002102", - "UPHENO:0002708", - "UBERON:0001442", - "UBERON:0001032", + "HP:0009601", + "HP:0009121", + "UBERON:0000015", + "HP:0000812", + "UPHENO:0086635", + "UBERON:0007196", + "UBERON:0010363", + 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"UPHENO:0069391", + "UBERON:0001017", + "UBERON:0001270", + "UBERON:0005281", + "UBERON:0000154", + "UPHENO:0088168", + "UBERON:0004451", + "UPHENO:0076805", + "UBERON:0000047", + "GO:0007275", "HP:0000924", - "UPHENO:0087643", - "UBERON:0001062", + "UBERON:0004121", + "UBERON:0000475", + "UPHENO:0076702", + "HP:0012759", + "HP:0007018", + "HP:0002118", + "HP:0006503", + "UBERON:0002104", + "UPHENO:0049367", + "HP:0000369", + "HP:0000118", + "UBERON:0000978", + "HP:0000465", + "UPHENO:0080221", + "BFO:0000001", + "UPHENO:0002635", + "HP:0001034", + "HP:0033127", + "HP:0007400", + "UBERON:0002416", + "UBERON:0000481", + "HP:0000957", + "HP:0011121", + "UPHENO:0076740", + "HP:0000953", + "UPHENO:0074589", + "UBERON:0003460", + "UPHENO:0080087", + "HP:0012733", + "HP:0000050", + "UPHENO:0054970", + "UPHENO:0026954", + "GO:0043473", + "HP:0004378", + "HP:0003319", + "UPHENO:0046505", + "UPHENO:0086644", + "UPHENO:0062527", + "UPHENO:0086824", + "UBERON:0000161", + "HP:0009380", + "UPHENO:0074228", + "GO:0006807", + "UPHENO:0002839", + "UPHENO:0087339", + "HP:0034915", + "HP:0006265", + "UPHENO:0078606", + "HP:0002023", + "UPHENO:0025100", + "HP:0000492", + "UPHENO:0076760", + "UBERON:0001691", + "UPHENO:0086595", + "UBERON:0034921", + "UBERON:0001004", + "HP:0000315", + "UPHENO:0002910", + "HP:0032039", + "HP:0000422", + "UPHENO:0086932", + "UPHENO:0086699", + "UBERON:0001819", + "HP:0010938", + "GO:0043170", + "HP:0008050", + "UPHENO:0003058", + "UBERON:0000025", + "UBERON:0004088", + "UBERON:0000970", + "UPHENO:0087472", + "UPHENO:0076761", + "HP:0000271", + "HP:0001510", + "HP:0001507", + "UPHENO:0049874", + "UBERON:5001463", + "UPHENO:0021474", + "UBERON:0000466", + "HP:0000478", + "UPHENO:0080158", + "UPHENO:0080196", + "UPHENO:0063599", + "UBERON:0010222", + "UPHENO:0087816", + "HP:0001762", + "UBERON:0010230", + "UPHENO:0002598", + "HP:0100886", + "HP:0011400", + "HP:0012372", + "OBI:0100026", + "UPHENO:0001072", + "UPHENO:0072195", + "HP:0002814", + "HP:0001776", + "HP:0005656", + "UPHENO:0081575", + "UBERON:0010709", + "HP:0000925", + "UBERON:0008784", + "UPHENO:0050008", + "HP:0006496", + "UPHENO:0003070", + "HP:0011458", + "HP:0002818", + "GO:0071840", + "HP:0002813", + "HP:0002921", + "HP:0000277", + "BFO:0000020", + "UBERON:0012354", + "UPHENO:0081566", ], "has_phenotype_closure_label": [ - "abnormal size of kidney", "decreased size of the kidney", + "tissue", + "Bone marrow hypocellularity", "bone marrow", - "Abnormality of multiple cell lineages in the bone marrow", - "bone marrow cell", - "abnormal bone marrow cell", "abnormal immune system", - "abnormal bone marrow cell morphology", - "Abnormality of the immune system", - "abnormal hematopoietic system morphology", - "increased width of anatomical entity", - "increased width of the anatomical entity in independent continuant", + "Abnormality of bone marrow cell morphology", + "bone cell", + "abnormal immune system morphology", "abnormal snout morphology", - "nasal bridge", - "abnormal size of eyeball of camera-type eye", - "Aplasia/Hypoplasia affecting the eye", + "increased width of nasal bridge", + "snout", + "increased width of the anatomical entity in independent continuant", + "abnormal nasal bridge morphology", + "increased width of anatomical entity", "Abnormality of globe size", - "Abnormal ocular adnexa morphology", - "Abnormality of the palpebral fissures", - "Upslanted palpebral fissure", - "Abnormality of the ocular adnexa", - "Slanting of the palpebral fissure", - "abnormal ocular adnexa morphology", - "palpebral fissure", - "multi organ part structure", + "Aplasia/Hypoplasia affecting the eye", + "abnormal biological_process in central nervous system", + "central nervous system myelination", + "gliogenesis", + "decreased size of the eyeball of camera-type eye", + "oligodendrocyte differentiation", + "oligodendrocyte development", + "nervous system development", + "glial cell differentiation", + "cellular developmental process", + "abnormal myelination in independent continuant", "abnormal central nervous system myelination in independent continuant", - "Delayed myelination", - "ocular adnexa", + "delayed central nervous system myelination", + "Abnormal myelination", + "abnormal hematopoietic system morphology", "system development", "axon ensheathment", - "cell development", - "Abnormal myelination", - "myelination", - "glial cell differentiation", - "glial cell development", - "abnormal myelination in independent continuant", - "ensheathment of neurons", - "cellular developmental process", - "delayed biological_process in independent continuant", - "delayed biological_process in central nervous system", - "snout", - "abnormal myelination", - "Abnormal CNS myelination", - "oligodendrocyte differentiation", - "abnormal central nervous system myelination", - "abnormal anus morphology", - "abnormal anus", - "Anal atresia", - "anus atresia", - "renal system", - "cavitated compound organ", - "Intrauterine growth retardation", - "abdomen", - "abnormal kidney", - "excretory system", + "abnormal axon ensheathment in central nervous system in independent continuant", + "absent anatomical entity in the renal system", + "abnormal kidney morphology", + "cavitated compound organ", "abnormal renal system", - "Cleft palate", + "abdomen element", + "Abnormality of the kidney", "Abnormality of the upper urinary tract", - "respiratory airway", - "kidney", + "renal system", "absent kidney", - "abnormal kidney morphology", - "integument", - "Esophageal atresia", - "pigmentation", - "Bone marrow hypocellularity", - "Hypermelanotic macule", - "lower respiratory tract", - "abnormal pigmentation", - "increased pigmentation in independent continuant", - "increased biological_process in independent continuant", - "Cafe-au-lait spot", - "abnormal craniocervical region morphology", - "abnormal integument", - "intromittent organ", - "Abnormality of skin pigmentation", - "Abnormal oral morphology", - "abnormal skin of body morphology", - "hemolymphoid system", - "Localized skin lesion", - "erythroid lineage cell", + "excretory system", + "abnormal upper urinary tract", + "abnormal cell morphology", "hematopoietic system", - "Abnormal respiratory system physiology", - "absent anatomical entity in the renal system", - "increased pigmentation", - "abnormal hematopoietic system", - "nervous system", - "Abnormal myeloid cell morphology", + "abnormal myeloid cell morphology", + "Abnormal erythroid lineage cell morphology", "myeloid cell", + "abnormal erythrocyte morphology", "oxygen accumulating cell", "hematopoietic cell", - "Anemia", - "abnormal erythroid lineage cell morphology", - "thoracic cavity element", - "Abnormal cell morphology", - "abnormal bone marrow morphology", - "Abnormal axial skeleton morphology", - "external nose", - "Abnormality of blood and blood-forming tissues", - "flat anatomical entity in independent continuant", - "pectoral appendage", - "abnormal incomplete closing of the anatomical entity", - "Depressed nasal tip", - "abnormal nose morphology", - "Abnormal external nose morphology", + "abnormal hematopoietic system", + "olfactory organ", "curvature anatomical entity", - "Abnormal morphology of female internal genitalia", - "curvature anatomical entity in independent continuant", - "flat anatomical entity", - "orifice", + "abnormal size of eyeball of camera-type eye", + "nose tip", "Abnormality of the nose", - "abnormal penis", + "flattened anatomical entity in independent continuant", + "nose", + "flat nose tip", + "Abnormal external nose morphology", + "abnormal nose morphology", + "Abnormal nasal tip morphology", + "Hypoplasia of penis", "abnormal male reproductive system morphology", - "Micropenis", + "Abnormality of male external genitalia", "External genital hypoplasia", - "abnormal male reproductive system", - "decreased size of the penis", - "abnormal palpebral fissure", - "Abnormality of the male genitalia", - "external genitalia", - "male organism", - "abnormal male reproductive organ morphology", - "external male genitalia hypoplasia", + "Abnormal penis morphology", "external male genitalia", + "Abnormal external genitalia", + "abnormal penis", + "male reproductive system", + "Abnormal renal morphology", "abnormal external genitalia", - "Abnormality of the genitourinary system", - "nose", - "Abnormality of the kidney", - "limb segment", - "Abnormality of male external genitalia", - "absent anatomical entity", - "roof of mouth", + "decreased size of the external male genitalia", "Orofacial cleft", - "abnormal roof of mouth morphology", "Abnormal oral cavity morphology", - "abnormal location of anatomical entity", "abnormal oral cavity morphology", - "penis", - "Abnormal midface morphology", - "Abnormal metencephalon morphology", + "abnormal midface morphology", + "anatomical cavity", + "Craniofacial cleft", + "abnormal incomplete closing of the secondary palate", + "abnormal roof of mouth morphology", "root", + "abnormal cerebellum morphology", + "segmental subdivision of nervous system", "hindbrain", - "Abnormality of the anus", + "external genitalia", + "cerebellum", "metencephalon", - "Opisthokonta", + "delayed myelination", + "abnormal hindbrain morphology", + "abnormal metencephalon morphology", + "Eumetazoa", + "Abnormal metencephalon morphology", "regional part of brain", - "paired limb/fin", + "cerebellum hypoplasia", + "Abnormal midface morphology", + "regional part of nervous system", + "abnormal external male genitalia", + "abnormal anatomical entity morphology in the brain", "Cerebellar hypoplasia", - "Abnormal cerebellum morphology", - "abnormal cerebellum morphology", - "absent radius bone in the independent continuant", - "Eukaryota", - "Abnormality of the skin", - "abnormal face morphology", - "abnormal metencephalon morphology", - "abnormal hindbrain morphology", "Feeding difficulties", "abnormality of digestive system physiology", - "Abnormality of digestive system physiology", - "manual digit 1 plus metapodial segment", - "Hydrocephalus", - "Unilateral renal agenesis", - "anatomical entity atresia", + "Esophageal atresia", "esophagus atresia", - "organ subunit", - "neurogenesis", - "subdivision of trunk", "Chromosomal breakage induced by crosslinking agents", - "anatomical point", - "leg", - "Global developmental delay", - "female reproductive system", - "abnormal ear morphology", - "Abnormal internal genitalia", - "abnormal anatomical entity morphology in the brain", - "abnormal internal female genitalia morphology", + "Neurodevelopmental abnormality", + "abnormal kidney", + "abnormal reproductive system", + "Aplasia of the uterus", + "female organism", + "reproductive structure", "aplasia or hypoplasia of uterus", - "absent anatomical entity in the reproductive system", - "absent uterus", - "genitourinary system", - "Abnormality of the uterus", - "abnormal programmed DNA elimination by chromosome breakage", - "organism substance", - "reproductive organ", + "bone marrow cell", + "internal female genitalia", + "Abdominal symptom", + "Abnormal reproductive system morphology", + "Wide nasal bridge", + "abnormal internal female genitalia morphology", + "abnormal female reproductive system", + "female reproductive system", + "Abnormal morphology of female internal genitalia", + "oviduct", + "erythrocyte", "subdivision of oviduct", + "abnormal uterus", + "genitourinary system", "internal genitalia", - "female organism", - "Abnormality of brain morphology", - "Hypoplasia of penis", + "aplasia or hypoplasia of eyeball of camera-type eye", + "uterus", "abnormal reproductive system morphology", - "Micrognathia", - "abnormal internal genitalia", - "Abnormality of the genital system", + "Abnormality of the uterus", + "abnormal biological_process in nervous system", "absent anatomical entity in the ear", - "Renal agenesis", - "agenesis of anatomical entity", "absent external ear in the head", "absent external ear", "Anotia", - "thoracic segment organ", - "limb bone", - "visual system", "absent anatomical entity in the head", - "absent external ear in the independent continuant", - "decreased embryo development", - "decreased biological_process", - "Abnormal external genitalia", - "absent manual digit", - "changed embryo development rate", - "oligodendrocyte development", - "developmental process", - "abnormal embryo development", + "Hypoplastic male external genitalia", "anatomical structure development", - "abnormal anatomical entity morphology", + "decreased developmental process", + "decreased qualitatively developmental process", + "decreased embryo development", + "abnormal genitourinary system", "changed developmental process rate", + "abnormal embryo development", + "Intrauterine growth retardation", + "changed embryo development rate", "multicellular organism development", - "decreased qualitatively biological_process", - "decreased developmental process", - "negative regulation of macromolecule biosynthetic process", - "ear", - "Webbed neck", + "abnormal secondary palate morphology", + "abnormal developmental process", + "Aplasia/Hypoplasia of the radius", + "Aplasia/hypoplasia involving forearm bones", + "zeugopod", + "abnormal forelimb zeugopod bone", + "absent radius bone in the forelimb", + "arm bone", + "forelimb long bone", "aplastic forelimb zeugopod bone", - "absent forelimb zeugopod bone", + "abnormal erythroid lineage cell morphology", + "Abnormal morphology of the radius", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "embryo development", + "abnormal radius bone morphology", + "Aplasia involving forearm bones", + "Aplasia involving bones of the extremities", + "limb long bone", "abnormal limb long bone morphology", - "abnormal forelimb zeugopod bone", - "non-connected functional system", + "Abnormality of the female genitalia", "abnormal forelimb zeugopod morphology", - "paired limb/fin skeleton", - "abnormal long bone morphology", + "delayed biological_process in central nervous system", "Abnormal forearm bone morphology", - "absent anatomical entity in the forelimb", - "absent radius bone", - "forelimb bone", - "limb long bone", - "Abnormal morphology of the radius", - "abnormal respiratory tube morphology", - "radius endochondral element", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal nervous system morphology", - "Abnormal hindbrain morphology", - "Abnormal upper limb bone morphology", - "increased biological_process", - "arm bone", - "Aplasia involving bones of the extremities", - "abnormal nose", - "long bone", - "Abnormal forearm morphology", - "bone element hypoplasia in face", - "abnormal mandible morphology", + "absent forelimb zeugopod bone", + "Aplasia involving bones of the upper limbs", + "Aplasia/Hypoplasia of the cerebellum", + "forelimb zeugopod", + "forelimb zeugopod skeleton", + "abnormal facial skeleton morphology", + "abnormal nose", + "Aplasia/Hypoplasia of the mandible", + "abnormal jaw skeleton morphology", + "blood cell", + "Abnormality of the genitourinary system", + "head bone", + "Hypoplastic facial bones", "primary subdivision of skull", - "forelimb long bone", + "abnormal hematopoietic cell morphology", "primary subdivision of cranial skeletal system", - "aplasia or hypoplasia of external ear", - "Abnormal skull morphology", - "ventricle of nervous system", - "abnormal biological_process in independent continuant", - "Abnormal penis morphology", - "Abnormality of the mouth", - "anatomical entity hypoplasia in face", + "cranial skeletal system", + "dermal bone", "jaw skeleton", - "abnormal digit", + "facial skeleton", + "immune system", "facial bone", - "zeugopodial skeleton", "mandible", - "face", - "decreased size of the external male genitalia", - "absent kidney in the independent continuant", - "abnormal renal system morphology", - "abnormal skull morphology", - "facial bone hypoplasia", - "regulation of macromolecule biosynthetic process", - "anatomical space", - "abnormal respiratory system", - "oral cavity", - "aplasia or hypoplasia of mandible", - "Abnormality of the skeletal system", - "head bone", - "dermal skeletal element", + "anatomical entity hypoplasia in face", + "Abnormality of the genital system", + "intramembranous bone", + "Aplasia/Hypoplasia involving bones of the skull", "aplasia or hypoplasia of skull", - "jaw region", - "neural crest-derived structure", - "facial skeleton", - "skull", - "Abnormal facial skeleton morphology", - "bone of craniocervical region", - "abnormal face", - "Hypoplastic male external genitalia", - "abnormal incomplete closing of the secondary palate", - "organ", - "bone of jaw", - "membrane bone", + "Renal hypoplasia", "bone of lower jaw", - "abnormal secondary palate morphology", - "Aplasia/Hypoplasia of facial bones", - "Macule", - "abnormal reproductive system", - "Hypoplastic facial bones", - "negative regulation of cellular metabolic process", - "Decreased anatomical entity position", - "cell differentiation", - "abnormal location of ear", - "Abnormal location of ears", + "mandible hypoplasia", + "flat anatomical entity in independent continuant", + "mouth", + "abnormal mandible morphology", + "abnormal mouth", + "abnormal bone marrow cell morphology", + "bone of free limb or fin", + "Absent thumb", + "abnormal autopod region morphology", + "subdivision of organism along appendicular axis", + "paired limb/fin", + "skeleton of lower jaw", + "abnormal digit morphology", + "multi-limb segment region", + "Abnormality of digestive system physiology", + "absent anatomical entity", + "Aplasia/hypoplasia involving bones of the extremities", + "Abnormality of limb bone morphology", + "regulation of cellular metabolic process", + "appendage", + "Abnormal digit morphology", + "cellular process", + "Aplasia/Hypoplasia of fingers", + "delayed biological_process in independent continuant", + "digitopodium region", + "Anemia", + "radius bone", + "Abnormality of the hand", + "decreased size of the external ear", + "agenesis of anatomical entity", + "cell development", + "skeleton of manus", + "Hypertelorism", + "pectoral appendage skeleton", + "abnormal manus morphology", + "Hyperactivity", + "digit 1", + "abnormal vertebral column", + "abnormal size of kidney", + "Renal hypoplasia/aplasia", + "trunk or cervical vertebra", + "abnormal female reproductive system morphology", + "digit 1 plus metapodial segment", + "abnormal skeletal system", + "skeleton of limb", + "Delayed myelination", + "Abnormality of skin pigmentation", + "shape nose tip", + "Abnormality of globe location", + "Aplasia/Hypoplasia involving the central nervous system", + "Short neck", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", + "abnormal DNA metabolic process", + "postcranial axial skeleton", + "vertebral column", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "paired limb/fin skeleton", + "cervical vertebra", + "organ system subdivision", + "Abnormality of the anus", + "system", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "skeletal element", + "anatomical collection", + "All", + "increased qualitatively biological_process", + "membrane bone", + "abnormal cervical vertebra", "dentary", - "abnormal location of external ear", - "hindlimb", - "central nervous system myelination", - "digit 1 or 5", - "Talipes equinovarus", - "abnormal head bone morphology", - "abnormal leg", + "bone of dorsum", + "external soft tissue zone", + "digit plus metapodial segment", + "bone element", + "skeleton", + "skeletal system", "cervical vertebra endochondral element", - "posterior region of body", - "pes", - "pelvic complex", - "decreased qualitatively developmental process", - "abnormal hindlimb morphology", - "Talipes", - "limb endochondral element", - "zeugopod", - "lower limb segment", - "gliogenesis", - "Abnormal jaw morphology", - "abnormal camera-type eye morphology", - "Bilateral talipes equinovarus", - "All", - "organism", - "Microtia", + "decreased length of neck", + "Abnormality of the eye", "abnormal pes morphology", - "Positional foot deformity", - "growth", - "Growth abnormality", - "delayed growth", - "Irregular hyperpigmentation", - "skeletal system", - "delayed biological_process", - "anatomical line between pupils", - "Aplasia/Hypoplasia involving the central nervous system", - "eye", - "orbital region", - "oviduct", + "Abnormality of the musculoskeletal system", + "abnormal skeletal system morphology", + "segment of manus", + "protein-containing material entity", + "dorsum", + "cervical region", + "Abnormality of the vertebral column", + "Macule", + "decreased length of anatomical entity in independent continuant", + "abnormal size of anatomical entity", + "abnormal bone marrow cell", "trunk", - "Abnormality of globe location", - "ventricular system of brain", - "Hypertelorism", - "Aplasia/Hypoplasia of the thumb", - "abnormal radius bone morphology", - "bone of appendage girdle complex", - "skeleton of lower jaw", - "increased length of the anatomical line between pupils", - "digit 1", - "upper jaw region", - "forelimb zeugopod skeleton", - "aplasia or hypoplasia of ear", - "anatomical line", - "abnormal mouth", - "abnormal pigmentation in independent continuant", - "abnormal eyeball of camera-type eye", - "changed biological_process rate in independent continuant", - "eyeball of camera-type eye", - "increased size of the anatomical entity", - "pelvic appendage", - "increased anatomical entity length in independent continuant", - "negative regulation of gene expression", - "Growth delay", - "abnormal location of eyeball of camera-type eye", - "Abnormality of the upper limb", - "embryo development", - "camera-type eye", - "abnormal forelimb morphology", - "simple eye", - "Abnormality of the eye", - "abnormal orbital region", - "Abnormal reproductive system morphology", - "Morphological central nervous system abnormality", - "organ component layer", - "forelimb zeugopod", - "abnormal brain ventricle morphology", - "cerebrospinal fluid", - "Abnormal cerebrospinal fluid morphology", + "abnormal shape of continuant", + "nasal bridge", + "bone of pectoral complex", + "decreased length of anatomical entity", + "zeugopodial skeleton", + "abnormal cerebrospinal fluid morphology", + "Abnormal ear morphology", + "aplasia or hypoplasia of skeleton", + "organ", + "abnormal male reproductive organ morphology", + "occurrent", + "abnormal myelination", + "abnormal anatomical entity morphology in the pectoral complex", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "abnormal neck morphology", + "external male genitalia hypoplasia", + "brain ventricle/choroid plexus", + "external ear", "Aplasia/Hypoplasia of the ear", - "brain ventricle", - "decreased size of the cerebellum", - "acropodium region", - "ventricular system of central nervous system", - "Abnormality of skin morphology", - "brain ventricle/choroid plexus", - "abnormal brain ventricle/choroid plexus morphology", - "abnormal upper urinary tract", - "Aplasia/Hypoplasia of the sacrum", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "axon ensheathment in central nervous system", - "aplasia or hypoplasia of fused sacrum", - "multicellular organism", - "abnormal limb morphology", - "abnormal fused sacrum morphology", - "abnormal esophagus morphology", - "sacral region", - "abnormal immune system morphology", - "decreased size of the mandible", - "abnormal biological_process in central nervous system", - "abnormal DNA metabolic process", - "abnormal chromatin organization", + "sensory system", + "Abnormality of the outer ear", + "multi-tissue structure", + "bodily fluid", + "manual digit", + "Abnormal eye morphology", + "abnormal head morphology", + "Abnormality of head or neck", + "Abnormality of the neck", + "abnormal external male genitalia morphology", + "abnormal vertebral column morphology", + "Microtia", + "absent digit", + "Abnormal cellular phenotype", + "radius endochondral element", + "abnormal behavior", + "obsolete cellular aromatic compound metabolic process", + "multicellular organismal process", + "Abnormal forearm morphology", + "vertebra", + "Abnormal skeletal morphology", "forelimb", "autopodial skeleton", - "postcranial axial skeletal system", - "continuant", - "pectoral complex", - "anatomical entity", - "regulation of macromolecule metabolic process", - "subdivision of digestive tract", - "aplastic manual digit 1", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the manus", - "biological regulation", - "Aplasia/hypoplasia involving the skeleton", - "mesoderm-derived structure", - "bodily fluid", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal cellular physiology", - "Aplasia/hypoplasia of the uterus", - "central nervous system", - "abnormal cellular metabolic process", - "Finger aplasia", - "Abnormality of the vertebral column", - "digitopodium region", - "anatomical wall", - "abnormal ear", - "digit 1 plus metapodial segment", - "regulation of biological process", - "digit", - "abdominal segment of trunk", - "abnormal limb", - "abnormal arm", - "skeleton", - "anatomical cavity", - "Absent thumb", - "abnormal female reproductive system morphology", - "Abnormal digit morphology", - "abnormal axon ensheathment in central nervous system in independent continuant", - "tube", - "Decreased external ear position", - "Neoplasm by anatomical site", + "Abnormal facial skeleton morphology", + "material anatomical entity", + "abnormal metabolic process", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "Eukaryota", + "negative regulation of cellular metabolic process", "aplasia or hypoplasia of manual digit", - "appendicular skeletal system", - "Abnormality of the hand", - "absent anatomical entity in the skeletal system", - "abnormal midface morphology", - "abnormal appendicular skeleton morphology", - "Abnormal foot morphology", - "aplasia or hypoplasia of vertebral column", - "eyelid", - "delayed myelination", + "face", + "abnormal orbital region", + "Reduced impulse control", + "abnormal location of external ear", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "craniocervical region", + "Abnormality of the gastrointestinal tract", + "Talipes", + "Webbed neck", + "quality", + "behavior process", + "aplasia or hypoplasia of ear", + "absent external ear in the independent continuant", + "regulation of cellular biosynthetic process", + "proximo-distal subdivision of respiratory tract", + "glial cell development", + "anatomical space", + "Abnormal hindbrain morphology", + "phenotype", + "manual digit 1", + "regulation of metabolic process", "autopodial extension", - "digit plus metapodial segment", - "erythrocyte", - "abnormal opening of the anatomical entity", - "abnormal limb bone morphology", - "abnormal metabolic process", - "abnormal brain morphology", - "Phenotypic abnormality", - "flat nose tip", - "abnormal limb bone", - "brain", + "abnormal face", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", "manual digitopodium region", - "manus", - "skeleton of pectoral complex", - "Abnormality of the integument", - "paired limb/fin segment", - "Renal hypoplasia/aplasia", - "abnormal cervical vertebra", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormal thumb morphology", - "Eumetazoa", + "Abnormal respiratory system morphology", + "cervical region of vertebral column", + "pelvic region element", + "protein-containing complex organization", + "Abnormality of the palpebral fissures", + "organic cyclic compound metabolic process", "segment of autopod", - "flattened anatomical entity", - "upper limb segment", - "regional part of nervous system", - "shape anatomical entity", - "organelle organization", - "abnormal head", - "Abnormality of the nervous system", - "respiratory tract", - "abnormal myeloid cell morphology", - "sacral region of vertebral column", - "obsolete cell", - "male reproductive organ", - "reproductive structure", - "manual digit 1 or 5", - "abnormal cerebrospinal fluid morphology", - "upper digestive tract", - "abnormal trachea morphology", - "abnormal hematopoietic cell morphology", - "bone element hypoplasia in independent continuant", - "Aplasia/hypoplasia of the extremities", - "internal female genitalia", - "aplasia or hypoplasia of skeleton", - "forelimb skeleton", - "arm", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "aplastic anatomical entity", - "subdivision of organism along appendicular axis", - "increased size of the anatomical entity in independent continuant", - "absent anatomical entity in the independent continuant", - "Abnormal palate morphology", - "Abnormality of limb bone morphology", + "anatomical line between pupils", + "independent continuant", + "pelvic complex", + "abnormal growth", + "abnormal anatomical entity", + "abnormal external nose morphology", + "absent radius bone in the independent continuant", + "neck bone", + "entire sense organ system", + "continuant", + "Abnormality of the immune system", + "Abnormal nervous system physiology", + "Abnormal axial skeleton morphology", + "obsolete heterocycle metabolic process", + "abnormal chromatin organization", + "Chromosome breakage", + "process", + "nucleic acid metabolic process", + "Abnormal myeloid cell morphology", + "leg", + "Atypical behavior", + "cellular metabolic process", + "simple eye", + "endochondral element", + "abnormal neck", + "abnormal brain ventricle morphology", + "subdivision of skeleton", + "endochondral bone", "female reproductive organ", + "long bone", + "material entity", + "negative regulation of biosynthetic process", + "decreased size of the penis", + "Abnormality of the lower limb", + "forelimb zeugopod bone", + "nervous system", + "negative regulation of biological process", + "biological_process", + "absent kidney in the independent continuant", + "subdivision of skeletal system", + "entity", + "abnormal nitrogen compound metabolic process", "abdominal segment element", - "absent digit", - "absent anatomical entity in the limb", - "male reproductive system", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", + "ensheathment of neurons", + "regulation of cellular process", + "posterior region of body", + "pes", + "aplasia or hypoplasia of external ear", + "Abnormal tracheobronchial morphology", + "Abnormal neck morphology", + "negative regulation of gene expression", "response to stimulus", - "forelimb endochondral element", - "organism subdivision", - "vestibulo-auditory system", - "Metazoa", - "Abnormal ear morphology", - "anatomical entity hypoplasia", - "Aplasia/hypoplasia involving bones of the hand", - "Hyperpigmentation of the skin", - "decreased size of the external ear", - "Abnormal hand morphology", - "abnormal external ear", - "Aplasia/Hypoplasia of fingers", - "abnormal uterus", - "abnormal shape of continuant", - "abnormal manual digit morphology in the manus", - "abnormal autopod region morphology", - "postcranial axial skeleton", - "abnormal erythrocyte morphology", - "trunk bone", - "subdivision of head", - "entire sense organ system", - "pelvic region of trunk", - "Abnormality of the outer ear", - "abnormal external ear morphology", - "abnormal biological_process in nervous system", - "abnormal cell morphology", - "secondary palate", - "absent radius bone in the forelimb", - "Aplasia/Hypoplasia of the external ear", - "delayed central nervous system myelination", - "disconnected anatomical group", - "increased qualitatively biological_process in independent continuant", - "Abnormal pinna morphology", - "external ear hypoplasia", - "absent kidney in the renal system", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormal nasal tip morphology", - "Abnormality of the face", - "cellular component organization or biogenesis", - "anus", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal digit morphology", - "structure with developmental contribution from neural crest", - "limb", - "lateral structure", - "quality", - "abnormal digestive system morphology", - "Abdominal symptom", - "increased length of the anatomical entity", - "shape anatomical entity in independent continuant", - "flattened anatomical entity in independent continuant", - "anatomical entity hypoplasia in independent continuant", - "organic substance metabolic process", - "segment of manus", - "intramembranous bone", - "skeleton of limb", - "abnormal facial skeleton morphology", - "abnormal response to stimulus", - "blood cell", - "anatomical conduit", + "regulation of macromolecule metabolic process", + "Abnormality of the digestive system", + "abnormal nervous system", + "chromatin organization", + "Reduced attention regulation", + "abnormal shape of external ear", + "abnormal limb bone morphology", + "abnormality of nervous system physiology", + "absent anatomical entity in the skeletal system", + "Abnormal cellular physiology", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "absent anatomical entity in the limb", + "Abnormal mandible morphology", + "trachea", + "Abnormality of the skeletal system", + "upper jaw region", + "Abnormality of the ocular adnexa", + "Micrognathia", + "Attention deficit hyperactivity disorder", + "abnormal leg", + "Cleft palate", "behavior", - "phenotype", - "Abnormality of the head", - "tissue", + "Abnormal appendicular skeleton morphology", + "Depressed nasal tip", "Abnormality of mental function", - "manual digit plus metapodial segment", + "intromittent organ", "obsolete cellular nitrogen compound metabolic process", - "abnormal nervous system", - "abnormality of anatomical entity physiology", - "Reduced impulse control", - "uterus", - "digestive system", - "Reduced attention regulation", - "abnormal head morphology", - "abnormal organelle organization", - "head", - "abnormal behavior process", - "changed biological_process rate", - "tracheobronchial tree", - "protein-containing material entity", - "subdivision of skeleton", - "bone cell", - "nervous system development", - "biological_process", - "abnormal craniocervical region", - "pelvic region element", - "subdivision of organism along main body axis", - "abnormal respiratory system morphology", - "abnormal eyelid morphology", - "regulation of gene expression", - "Craniofacial cleft", - "Abnormality of the female genitalia", + "postcranial axial skeletal system", + "organelle organization", + "metabolic process", + "Abnormal nasal bridge morphology", + "erythroid lineage cell", + "non-material anatomical boundary", + "midface", + "abnormal cellular component organization", + "abnormal trachea morphology", + "abnormal opening of the anatomical entity", + "dorsal region element", + "body proper", "abnormal primary metabolic process", + "neck", + "decreased size of the cerebellum", + "abnormal phenotype by ontology source", + "subdivision of vertebral column", + "decreased size of the mandible", + "absent manual digit", + "abnormal development of anatomical entity", + "Abnormal thumb morphology", + "subdivision of trunk", + "abnormal limb bone", + "sense organ", + "Abnormal nervous system morphology", + "limb", + "increased size of the anatomical entity", + "absent anatomical entity in the reproductive system", + "abnormal number of anatomical enitites of type anatomical entity", + "limb bone", + "negative regulation of macromolecule biosynthetic process", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "lateral structure", + "regulation of biological process", + "decreased qualitatively biological_process", + "anatomical entity", + "abnormal head bone morphology", + "Abnormal pinna morphology", + "dorsal part of neck", + "abnormal cellular process", + "acropodium region", + "abnormally increased number of brain ventricle in the independent continuant", + "Abnormal anus morphology", + "male reproductive organ", + "disconnected anatomical group", + "abnormal cell", + "secondary palate", + "organism", + "irregular bone", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "Renal agenesis", + "abnormal respiratory system", + "decreased size of the anatomical entity in the independent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + "specifically dependent continuant", + "abnormal programmed DNA elimination by chromosome breakage", + "programmed DNA elimination by chromosome breakage", + "cellular component organization or biogenesis", "kidney hypoplasia", - "Abnormality of the neck", - "abnormal female reproductive organ morphology", - "Abnormality of metabolism/homeostasis", - "regulation of metabolic process", - "abnormality of nervous system physiology", - "Aplasia/hypoplasia involving forearm bones", - "behavior process", - "non-material anatomical boundary", - "Abnormality of digestive system morphology", - "negative regulation of biological process", - "organic cyclic compound metabolic process", - "cranial skeletal system", - "Renal hypoplasia", - "abnormal vertebral column morphology", - "abnormal developmental process", - "bone of pectoral complex", - "macromolecule metabolic process", - "obsolete heterocycle metabolic process", - "Abnormal sacrum morphology", - "dermal skeleton", - "immaterial entity", - "obsolete cellular aromatic compound metabolic process", - "aplasia or hypoplasia of manual digit 1", - "mandible hypoplasia", - "abnormal shape of external ear", - "skeleton of manus", - "abnormal neck", + "abnormal craniocervical region morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "abnormal renal system morphology", + "alimentary part of gastrointestinal system", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", "obsolete nitrogen compound metabolic process", - "olfactory organ", - "abnormal ocular adnexa", - "abnormal cellular process", + "aplastic manual digit 1", + "Abnormal sacrum morphology", + "cellular component organization", + "neurogenesis", "regulation of biosynthetic process", - "penis hypoplasia", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "regulation of cellular metabolic process", - "irregular bone", - "nucleobase-containing compound metabolic process", - "negative regulation of metabolic process", - "abnormal genitourinary system", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal closing of the anatomical entity", - "protein-containing complex organization", - "Attention deficit hyperactivity disorder", + "absent anatomical entity in the independent continuant", + "digit", + "anterior region of body", + "aplastic anatomical entity", + "Abnormal nasal morphology", + "absent anatomical entity in the multicellular organism", + "thoracic cavity element", + "Growth abnormality", + "axial skeletal system", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "anatomical system", + "upper digestive tract", + "abnormal bone of pectoral complex morphology", + "absent radius bone", + "orifice", + "multicellular organism", + "regulation of macromolecule biosynthetic process", + "Abnormality of metabolism/homeostasis", + "abnormal ear morphology", + "cellular organisms", + "Decreased anatomical entity position", + "main body axis", + "Absent forearm bone", + "abnormal manual digit 1 morphology", + "eyelid", + "Abnormality of the ear", + "orbital region", + "protein-DNA complex organization", + "vestibulo-auditory system", + "non-connected functional system", + "Aplasia/hypoplasia of the extremities", + "forelimb bone", + "anatomical entity hypoplasia", + "head", + "abnormal eyelid morphology", + "manus", + "curvature anatomical entity in independent continuant", "negative regulation of cellular process", - "abnormal cellular component organization", - "programmed DNA elimination", + "abnormal limb", + "Abnormality of digestive system morphology", + "ear", + "organism subdivision", + "shape anatomical entity", + "ventricular system of brain", + "anatomical entity hypoplasia in independent continuant", + "abnormal central nervous system myelination", + "organ subunit", + "negative regulation of cellular biosynthetic process", "appendage girdle complex", - "abnormal anatomical entity topology in independent continuant", - "skin of body", - "multi-tissue structure", - "Aplasia/Hypoplasia of the mandible", - "abnormal biological_process", - "abnormal nitrogen compound metabolic process", - "radius bone", - "bone of dorsum", - "central nervous system development", - "bone element", - "abnormal cell", - "Aplasia of the uterus", - "Abnormal eyelid morphology", - "organ system subdivision", - "process", - "Abnormality of chromosome stability", - "abnormal neck morphology", + "subdivision of head", + "Abnormality of brain morphology", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "forelimb skeleton", + "abnormal anatomical entity morphology in the appendage girdle complex", + "pigmentation", + "dermal skeleton", + "aplasia or hypoplasia of manual digit 1", "Abnormality of limbs", - "regulation of cellular biosynthetic process", - "DNA metabolic process", - "abnormal jaw skeleton morphology", - "immaterial anatomical entity", - "endochondral element", - "negative regulation of macromolecule metabolic process", - "abnormal penis morphology", - "Neurodevelopmental abnormality", - "respiratory tube", - "pectoral appendage skeleton", - "abdomen element", - "Abnormality of the orbital region", - "vertebral column", - "Abnormal cellular phenotype", - "subdivision of tube", - "fused sacrum hypoplasia", - "ectoderm-derived structure", - "abnormality of respiratory system physiology", - "Abnormal anus morphology", - "sense organ", - "Abnormality of limb bone", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Aplasia/hypoplasia involving the skeleton", + "abnormal anatomical entity morphology in the manus", + "Finger aplasia", + "abdomen", + "manual digit 1 plus metapodial segment", + "trunk bone", + "bone of appendage girdle complex", + "anatomical wall", + "lower jaw region", + "abnormal digit", "thoracic segment of trunk", - "Aplasia/Hypoplasia involving the vertebral column", - "absent anatomical entity in the multicellular organism", - "increased biological_process in skin of body", - "abnormal growth", - "respiratory system", - "Aplasia/Hypoplasia of the radius", - "Atypical behavior", - "Abnormal eye morphology", - "Abnormality of head or neck", - "trachea", - "mouth", - "decreased size of the eyeball of camera-type eye", - "Abnormality of the digestive system", - "immune system", - "organ part", - "abnormal external male genitalia", - "digestive tract", - "decreased length of anatomical entity", - "Gastrointestinal atresia", - "abnormal tracheobronchial tree morphology", - "abnormal alimentary part of gastrointestinal system", - "midface", - "segmental subdivision of hindbrain", - "Abnormal tracheal morphology", - "Abnormality of the urinary system", - "Low-set ears", - "aplasia or hypoplasia of cerebellum", - "Abnormal nasal bridge morphology", - "Short attention span", - "aplasia or hypoplasia of eyeball of camera-type eye", - "independent continuant", + "abnormal arm", + "arm", + "limb segment", + "increased qualitatively biological_process in independent continuant", + "Aplasia/Hypoplasia of the thumb", + "dermatocranium", + "pectoral complex", + "paired limb/fin segment", + "axon ensheathment in central nervous system", + "compound organ", + "eye", + "cell differentiation", + "appendicular skeletal system", + "Abnormal palate morphology", + "skeleton of pectoral complex", + "appendicular skeleton", + "Unilateral renal agenesis", + "Abnormal cerebellum morphology", + "upper limb segment", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "developmental process", + "negative regulation of metabolic process", "abdominal segment bone", - "endoderm-derived structure", - "Abnormal respiratory system morphology", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Abnormal erythroid lineage cell morphology", + "manual digit 1 or 5", + "autopod region", + "Micropenis", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "Abnormality of chromosome stability", + "immaterial entity", + "anatomical conduit", + "abnormal limb morphology", + "mesoderm-derived structure", + "nucleobase-containing compound metabolic process", + "Short attention span", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "abnormal internal genitalia", + "aplasia or hypoplasia of vertebral column", + "reproductive system", + "sacral region", + "fused sacrum hypoplasia", + "abnormal fused sacrum morphology", + "Global developmental delay", + "biological regulation", + "abdominal segment of trunk", + "macromolecule metabolic process", + "pelvic region of trunk", + "palpebral fissure", + "bone element hypoplasia in independent continuant", + "abnormal penis morphology", + "hindlimb", + "aplasia or hypoplasia of fused sacrum", + "Aplasia/Hypoplasia of the sacrum", "Delayed CNS myelination", - "transudate", + "fused sacrum", + "abnormal craniocervical region", + "sacral region of vertebral column", + "Abnormal upper limb bone morphology", + "skin of body", + "bony pelvis", + "skull", + "limb skeleton subdivision", + "Aplasia/Hypoplasia involving the vertebral column", + "Aplasia/Hypoplasia of facial bones", + "musculoskeletal system", + "abnormal cellular metabolic process", + "Hypoplastic sacrum", + "abnormal organelle organization", + "abnormal respiratory system morphology", + "vertebral element", + "viscus", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "Neoplasm", "Tracheoesophageal fistula", - "Abnormality of the gastrointestinal tract", - "esophagus", - "Aplasia/Hypoplasia involving bones of the skull", - "abnormal digestive system", - "abnormal manus", - "anterior region of body", - "abnormal skeletal system", + "Abnormal jaw morphology", + "abnormal ear", + "Low-set ears", + "abnormal esophagus morphology", + "abnormal bone marrow morphology", + "flat anatomical entity", + "lower respiratory tract", + "abnormality of respiratory system physiology", + "abnormal pigmentation in independent continuant", + "abnormal respiratory tube morphology", + "Abnormal tracheal morphology", + "organ part", + "regulation of gene expression", + "pectoral appendage", + "respiratory system", + "obsolete cell", + "programmed DNA elimination", + "digestive system", + "subdivision of tube", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", "Abnormality of the respiratory system", - "dermal bone", - "proximo-distal subdivision of respiratory tract", - "reproductive system", + "Aplasia/Hypoplasia of the external ear", + "trunk region element", + "endoderm-derived structure", + "abnormal female reproductive organ morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "tracheobronchial tree", + "pelvic appendage", + "thoracic segment organ", "Abnormal esophagus morphology", - "increased pigmentation in skin of body", - "manual digit 1", - "cellular process", - "abnormal nasal bridge morphology", - "dorsal part of neck", - "integumental system", - "viscus", - "abnormal manual digit morphology in the independent continuant", + "abnormal tracheobronchial tree morphology", + "abnormal forelimb morphology", + "abnormal digestive system morphology", + "penis", "digestive system element", - "trunk or cervical vertebra", - "abnormal central nervous system morphology", - "increased width of nasal bridge", - "Abnormal renal morphology", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "increased qualitatively biological_process", - "Wide nasal bridge", - "abnormal alimentary part of gastrointestinal system morphology", - "Abnormal cerebral ventricle morphology", - "abnormal nervous system morphology", - "abnormal female reproductive system", + "kidney", + "abnormal biological_process", + "Growth delay", + "abnormal nose tip morphology", + "alimentary part of gastrointestinal system atresia", + "respiratory tract", + "respiratory tube", + "forelimb endochondral element", + "primary metabolic process", + "Abnormality of the skin", + "abnormal alimentary part of gastrointestinal system", + "oral cavity", "Morphological abnormality of the gastrointestinal tract", - "anatomical structure", - "abnormally increased number of anatomical entity in the independent continuant", - "external ear", - "occurrent", - "abnormal skeletal system morphology", - "anatomical collection", - "cerebellum", - "dorsal region element", - "nose tip", - "skeletal element", - "abnormal external male genitalia morphology", - "Abnormality of bone marrow cell morphology", - "Abnormality of the cervical spine", - "body proper", - "external soft tissue zone", - "Abnormal skeletal morphology", - "vertebra", - "axial skeleton plus cranial skeleton", - "main body axis", - "manual digit", - "Abnormal erythrocyte morphology", - "Chromosome breakage", - "Abnormal neck morphology", - "lower jaw region", - "multi-limb segment region", - "abnormal vertebral column", - "abnormal anatomical entity", - "abnormal behavior", - "Aplasia/Hypoplasia of the cerebellum", - "primary metabolic process", - "multicellular organismal process", - "cellular component organization", - "shape nose tip", - "craniocervical region", - "programmed DNA elimination by chromosome breakage", - "neck", - "abnormal nose tip morphology", - "dorsum", - "Neoplasm", - "appendicular skeleton", - "abnormal skin of body", - "Microphthalmia", - "segmental subdivision of nervous system", - "autopod region", - "compound organ", - "abnormal bone of pectoral complex morphology", - "protein-DNA complex organization", - "fused sacrum", - "alimentary part of gastrointestinal system", - "Abnormality of the lower limb", - "bony pelvis", - "sensory system", - "chromatin organization", - "Hypoplastic sacrum", - "cervical vertebra", - "alimentary part of gastrointestinal system atresia", - "Abnormal mandible morphology", + "Abnormal respiratory system physiology", + "tube", + "respiratory airway", + "digestive tract", + "central nervous system development", + "hemolymphoid system", + "esophagus", + "Abnormal location of ears", + "subdivision of digestive tract", + "delayed biological_process", + "Abnormality of the cervical spine", + "abnormal digestive system", + "cerebrospinal fluid", + "Abnormality of the head", + "organic substance metabolic process", + "abnormal pigmentation", + "Hydrocephalus", + "male organism", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "Abnormal cell morphology", + "lower limb segment", + "abnormal brain morphology", + "aplasia or hypoplasia of cerebellum", + "abnormally increased number of anatomical entity in the independent continuant", + "Abnormality of the urinary system", + "abnormal anus morphology", + "Morphological central nervous system abnormality", + "organ component layer", + "organism substance", + "Abnormality of limb bone", + "central nervous system", + "ventricular system of central nervous system", "abnormally increased number of anatomical entity", - "Aplasia/hypoplasia involving bones of the extremities", - "axial skeletal system", - "entity", - "Abnormal tracheobronchial morphology", - "specifically dependent continuant", - "abnormal development of anatomical entity", - "trunk region element", - "Abnormality of the musculoskeletal system", - "Abnormal nasal morphology", - "abnormal anatomical entity length", - "abnormal mouth morphology", - "decreased length of neck", - "negative regulation of cellular biosynthetic process", - "aplasia or hypoplasia of anatomical entity", - "forelimb zeugopod bone", - "anatomical system", - "bone of free limb or fin", + "abnormal central nervous system morphology", + "transudate", + "Cafe-au-lait spot", + "increased length of the anatomical entity", + "Absent radius", + "Abnormal cerebrospinal fluid morphology", + "myelination", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "abnormal nervous system morphology", + "bone of craniocervical region", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "Microphthalmia", + "abnormal external ear morphology", + "Positional foot deformity", + "external ear hypoplasia", + "abnormal brain ventricle/choroid plexus morphology", + "anatomical point", + "ventricle of nervous system", + "subdivision of organism along main body axis", + "dermal skeletal element", + "Gastrointestinal atresia", + "abnormal location of anatomical entity", + "abnormal location of ear", + "abnormal ocular adnexa", + "Decreased external ear position", + "abnormal anatomical entity topology in independent continuant", + "abnormal integument", + "brain ventricle", + "eyeball of camera-type eye", + "abnormal anatomical entity morphology", + "increased pigmentation", + "external nose", + "changed biological_process rate", + "increased biological_process in skin of body", + "abnormal external ear", + "increased biological_process", + "decreased size of the anatomical entity", + "abnormal biological_process in independent continuant", "Neurodevelopmental delay", - "decreased size of the anatomical entity in the independent continuant", - "Abnormal nervous system physiology", - "metabolic process", - "Hyperactivity", - "Aplasia involving forearm bones", - "cerebellum hypoplasia", - "Short neck", - "abnormal phenotype by ontology source", + "abnormal skin of body", + "increased size of the anatomical entity in independent continuant", + "Abnormality of the integument", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", + "integumental system", + "integument", + "changed biological_process rate in independent continuant", + "increased biological_process in independent continuant", + "abnormal skin of body morphology", + "neural crest-derived structure", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "abnormal hindlimb morphology", + "increased pigmentation in independent continuant", + "Abnormal oral morphology", + "abnormal response to stimulus", + "abnormal closing of the anatomical entity", + "abnormal anus", + "Abnormal CNS myelination", + "immaterial anatomical entity", + "penis hypoplasia", + "limb endochondral element", + "Anal atresia", + "visual system", + "Abnormal eyelid morphology", + "absent uterus", + "ectoderm-derived structure", + "Slanting of the palpebral fissure", + "increased length of the anatomical line between pupils", + "multi organ part structure", + "roof of mouth", + "Abnormality of the orbital region", + "camera-type eye", + "reproductive organ", + "abnormal skull morphology", + "anus atresia", + "abnormal palpebral fissure", + "Abnormal ocular adnexa morphology", + "manual digit plus metapodial segment", + "Upslanted palpebral fissure", + "ocular adnexa", + "Abnormality of the face", + "abnormal face morphology", "phenotype by ontology source", + "abnormal ocular adnexa morphology", + "delayed growth", + "increased anatomical entity length in independent continuant", + "abnormal eyeball of camera-type eye", + "anatomical line", + "abnormal location of eyeball of camera-type eye", + "absent kidney in the renal system", + "Hypermelanotic macule", + "Abnormal foot morphology", + "Talipes equinovarus", + "Aplasia/hypoplasia of the uterus", + "Hyperpigmentation of the skin", + "Bilateral talipes equinovarus", + "flattened anatomical entity", + "abnormal manus", + "bone element hypoplasia in face", + "segmental subdivision of hindbrain", + "digit 1 or 5", + "bone of jaw", + "facial bone hypoplasia", "cell", - "cellular metabolic process", - "dermatocranium", - "abnormal size of anatomical entity", - "appendage", - "subdivision of vertebral column", - "upper urinary tract", - "abnormally increased number of brain ventricle in the independent continuant", - "decreased length of anatomical entity in independent continuant", - "endochondral bone", - "cervical region of vertebral column", - "regulation of cellular process", - "decreased size of the anatomical entity", - "musculoskeletal system", - "material entity", - "subdivision of skeletal system", - "Absent radius", - "nucleic acid metabolic process", - "abnormal external nose morphology", - "abnormal postcranial axial skeleton morphology", - "vertebral element", - "Absent forearm bone", - "material anatomical entity", - "cervical region", - "Aplasia involving bones of the upper limbs", - "system", - "limb skeleton subdivision", - "abnormal manus morphology", - "neck bone", - "Abnormality of the ear", - "negative regulation of biosynthetic process", - "cellular organisms", - "aplasia or hypoplasia of radius bone", + "Abnormality of the mouth", + "anus", + "Abnormal skull morphology", + "aplasia or hypoplasia of mandible", + "abnormal head", + "jaw region", + "abnormal male reproductive system", + "abnormal mouth morphology", ], }, { @@ -3607,15 +3607,14 @@ def autocomplete_response(): ], "namespace": "MONDO", "has_phenotype": [ + "HP:0000086", "HP:0001875", + "HP:0009777", "HP:0001249", - "HP:0000086", "HP:0000252", - "HP:0000953", - "HP:0000081", - "HP:0003214", + "HP:0001627", + "HP:0000957", "HP:0000815", - "HP:0009777", "HP:0000104", "HP:0001017", "HP:0001876", @@ -3630,26 +3629,26 @@ def autocomplete_response(): "HP:0003221", "HP:0009943", "HP:0000978", - "HP:0001627", - "HP:0000957", + "HP:0000953", "HP:0001903", "HP:0001909", + "HP:0000081", "HP:0004322", "HP:0000486", "HP:0000365", + "HP:0003214", "HP:0003213", "HP:0000085", ], "has_phenotype_label": [ + "Ectopic kidney", "Neutropenia", + "Absent thumb", "Intellectual disability", - "Ectopic kidney", "Microcephaly", - "Hyperpigmentation of the skin", - "Duplicated collecting system", - "Prolonged G2 phase of cell cycle", + "Abnormal heart morphology", + "Cafe-au-lait spot", "Hypergonadotropic hypogonadism", - "Absent thumb", "Renal agenesis", "Anemic pallor", "Pancytopenia", @@ -3664,1607 +3663,1608 @@ def autocomplete_response(): "Chromosomal breakage induced by crosslinking agents", "Complete duplication of thumb phalanx", "Bruising susceptibility", - "Abnormal heart morphology", - "Cafe-au-lait spot", + "Hyperpigmentation of the skin", "Anemia", "Leukemia", + "Duplicated collecting system", "Short stature", "Strabismus", "Hearing impairment", + "Prolonged G2 phase of cell cycle", "Deficient excision of UV-induced pyrimidine dimers in DNA", "Horseshoe kidney", ], "has_phenotype_count": 32, "has_phenotype_closure": [ - "UPHENO:0041075", - "UPHENO:0041465", + "UPHENO:0041226", + "HP:0000085", + "UPHENO:0082444", "UPHENO:0082129", "UPHENO:0041629", + "UPHENO:0041465", "HP:0003254", + "HP:0003213", + "UPHENO:0049964", + "UPHENO:0051124", "GO:0051716", - "UPHENO:0049671", - "GO:0006974", + "GO:0006950", + "GO:0051319", + "GO:0007049", + "GO:0050954", + "UPHENO:0041075", + "GO:0007600", + "HP:0000598", + "GO:0007605", + "UPHENO:0050625", "HP:0000364", + "UPHENO:0005518", "UPHENO:0052970", "UBERON:0002105", - "UPHENO:0005518", - "UPHENO:0002240", - "UBERON:0000015", - "UPHENO:0080300", - "UPHENO:0079826", + "NBO:0000338", "UPHENO:0049586", - "HP:0000496", + "HP:0000708", + "UPHENO:0049622", + "GO:0007610", + "HP:0000486", + "UBERON:0006800", "BFO:0000141", - "NBO:0000001", - "NBO:0000338", + "HP:0000549", + "HP:0000496", + "NBO:0000444", + "UBERON:0010222", "UPHENO:0079828", + "UPHENO:0080585", + "GO:0050896", + "HP:0011018", + "UBERON:0000015", + "UBERON:0000466", + "UPHENO:0081424", + "UPHENO:0000543", + "UPHENO:0081423", "UPHENO:0080351", "UPHENO:0075159", - "UPHENO:0080352", - "HP:0002664", - "HP:0011793", + "HP:0000081", + "UPHENO:0075787", + "HP:0001909", "HP:0004377", - "HP:0001510", - "HP:0011355", - "HP:0007400", - "HP:0012733", - "HP:0000957", - "UBERON:0005178", - "UBERON:0015410", - "UPHENO:0076776", - "UBERON:0005181", - "UPHENO:0076810", - "GO:0003013", + "HP:0011793", + "HP:0002664", "UBERON:0000477", - "UPHENO:0080362", - "UBERON:0002049", "GO:0008015", - "UPHENO:0051097", - "HP:0001933", - "HP:0030680", + "HP:0001892", "HP:0011029", + "HP:0002597", "UPHENO:0002678", - "UPHENO:0021800", - "HP:0001034", - "HP:0009997", - "HP:0009942", - "UBERON:0012150", - "UBERON:0012358", + "GO:0003013", + "HP:0000978", + "UPHENO:0051097", + "HP:0001933", + "UBERON:0007798", + "UPHENO:0084447", + "HP:0009602", + "UBERON:0003221", + "UBERON:0012357", + "HP:0011314", + "HP:0009943", + "UBERON:0015023", "UBERON:0015024", "UBERON:5101463", - "UPHENO:0020041", + "UPHENO:0087369", + "HP:0009942", + "UPHENO:0021800", + "GO:0022403", "UBERON:0004249", - "UBERON:0003620", + "UBERON:5106048", "UBERON:5102389", "UBERON:0010688", - "UBERON:0012151", - "HP:0004275", - "GO:0010558", - "GO:0019222", - "GO:0006139", - "GO:0007605", - "GO:0046483", - "GO:0006725", - "HP:0040012", - "UPHENO:0050845", - "UPHENO:0049990", - "UPHENO:0049873", - "GO:0031049", - "UBERON:0010543", - "GO:0065007", - "UPHENO:0049748", - "UPHENO:0049700", - "GO:0071840", - "UPHENO:0050113", - "UBERON:0010222", "GO:0010556", - "GO:0016043", + "GO:0031326", "GO:0009890", + "HP:0011276", + "UBERON:0005897", "GO:0010605", + "GO:0031324", + "GO:0006259", + "GO:0071824", + "GO:0065007", + "UPHENO:0080581", + "UPHENO:0050021", + "GO:0010629", + "GO:0051325", "GO:0060255", + "GO:0009889", + "GO:0031323", + "UBERON:0004100", + "GO:0009892", + "UBERON:0012150", "GO:0090304", - "GO:0006996", - "GO:0043933", + "UPHENO:0050116", + "HP:0003221", + "UPHENO:0049990", + "UPHENO:0050121", + "GO:0005623", + "UPHENO:0049700", + "UPHENO:0000541", + "UBERON:0001436", + "GO:0010468", + "NBO:0000313", + "GO:0010558", + "GO:0031327", + "GO:0006325", + "GO:0019222", + "HP:0011354", + "GO:0006139", + "GO:0046483", + "HP:0001939", + "UPHENO:0050845", + "HP:0003220", "GO:0050789", "GO:0044238", + "HP:0031704", "GO:0006807", "GO:0071704", - "HP:0004322", - "HP:0001627", - "GO:0010629", + "UPHENO:0049873", + "GO:0008152", + "HP:0000365", + "GO:0009987", + "UPHENO:0050113", + "GO:0031052", "HP:0001263", - "GO:0034641", - "HP:0012758", + "GO:0040007", + "UPHENO:0049874", + "UBERON:0010543", + "HP:0001507", "UPHENO:0082794", - "UBERON:0015228", - "HP:0001518", "UPHENO:0010763", - "GO:0040007", - "HP:0004325", - "UPHENO:0082761", - "HP:0005918", "UPHENO:0054299", - "UBERON:0001444", + "GO:0006974", + "HP:0004323", + "UPHENO:0010795", + "UPHENO:0020041", + "HP:0000271", + "UPHENO:0069523", + "UBERON:0000020", + "UPHENO:0087472", + "GO:0033554", + "UBERON:0000970", + "UBERON:0001456", + "UBERON:0004088", + "HP:0000568", + "UBERON:0004456", + "UPHENO:0075219", + "UBERON:0000047", + "UBERON:0010230", "UBERON:0000019", "HP:0008056", "UPHENO:0087924", - "GO:0050954", - "UBERON:0004456", + "HP:0100887", + "HP:0000478", + "UPHENO:0002910", + "HP:0011025", + "HP:0000315", "UPHENO:0080209", - "HP:0000568", - "UBERON:0001032", - "UPHENO:0075219", - "UPHENO:0080585", - "UPHENO:0075997", - "HP:0001626", - "UBERON:0004088", - "UPHENO:0049622", - "UPHENO:0088148", - "UPHENO:0085263", - "HP:0004323", + "HP:0001896", + "HP:0004312", + "UPHENO:0086002", + "UPHENO:0049588", + "CL:0000558", + "UPHENO:0046505", "HP:0009381", - "HP:0011927", "UPHENO:0012541", - "UPHENO:0046624", - "UPHENO:0046411", - "UPHENO:0088186", - "HP:0003953", - "UBERON:0003460", - "UBERON:0001423", - "UPHENO:0025945", - "UPHENO:0080187", - "UPHENO:0081511", - "UBERON:0008962", - "HP:0002597", - "UBERON:0003606", - "UPHENO:0076941", - "UBERON:0015001", - "UBERON:0002386", - "UPHENO:0002751", - "UPHENO:0026128", - "HP:0003974", - "HP:0040072", - "UBERON:0010703", - "UBERON:0011584", - "UPHENO:0009399", - "HP:0009823", - "HP:0002973", - "HP:0006503", - "HP:0006501", - "UBERON:0005897", - "UPHENO:0085873", - "UPHENO:0080382", - "HP:0008669", - "GO:0007283", - "GO:0007276", - "UPHENO:0020950", - "UPHENO:0050108", - "UPHENO:0041821", - "UPHENO:0002595", - "CL:0000019", - "UPHENO:0049985", - "UPHENO:0012274", - "UPHENO:0087547", - "UPHENO:0021474", - "HP:0000811", - "UBERON:0003466", - "UPHENO:0078452", - "UBERON:0004053", - "UPHENO:0049970", - "UBERON:0000473", - "CL:0000039", - "CL:0000413", - "UPHENO:0086023", - "HP:0012243", - "UPHENO:0049964", - "GO:0031326", - "CL:0000558", - "HP:0000035", - "UPHENO:0086198", - "UPHENO:0085875", - "CL:0000015", - "UBERON:0003101", - "GO:0032502", - "GO:0022414", - "GO:0000003", - "UPHENO:0052231", - "GO:0032504", - "UPHENO:0079872", - "UPHENO:0052778", - "HP:0009778", - "HP:0000812", - "HP:0004312", - "UPHENO:0050101", - "UPHENO:0005016", - "UPHENO:0078729", - "UPHENO:0087369", - "UPHENO:0021561", - "HP:0000598", - "CL:0000586", - "GO:0006281", - "GO:0048232", - "GO:0003006", - "HP:0009602", - "GO:0048609", - "HP:0000025", - "UPHENO:0085194", - "UPHENO:0002371", - "GO:0007600", - "HP:0012874", - "UBERON:0003135", - "UBERON:0000079", - "UPHENO:0002597", - "GO:0010468", - "HP:0010461", - "UPHENO:0087973", - "UPHENO:0085070", - "CL:0001035", - "UPHENO:0080581", - "UPHENO:0002598", - "CL:0000151", - "HP:0012145", - "UPHENO:0084987", - "GO:0006950", - "GO:0031327", - "HP:0001872", - "UBERON:0000479", - "GO:0031324", - "UPHENO:0086173", - "HP:0005561", - "CL:0000458", - "UBERON:0015063", - "UPHENO:0086049", - "HP:0011875", - "HP:0001873", - "GO:1901360", - "HP:0011873", - "HP:0001876", - "UBERON:0004708", - "CL:0000457", - "CL:0000408", - "CL:0000329", - "GO:0019953", - "CL:0000764", - "HP:0012373", - "CL:0000232", - "UBERON:0004765", - "UPHENO:0026980", - "UPHENO:0008593", + "UPHENO:0002433", + "CL:0000233", + "GO:0008150", + "UPHENO:0020888", + "UBERON:0015061", "UBERON:0003129", - "UPHENO:0025211", - "UBERON:0004054", + "UPHENO:0026506", + "UPHENO:0080325", + "UPHENO:0002642", + "UBERON:0015203", + "NCBITaxon:2759", + "UPHENO:0084448", + "UBERON:0012139", + "UPHENO:0082761", + "CL:0000738", + "HP:0000027", + "NBO:0000001", + "UBERON:0034925", + "UPHENO:0088176", + "UPHENO:0026183", + "UPHENO:0002905", + "UPHENO:0076723", + "UBERON:0010363", + "HP:0002977", + "HP:0009777", + "UBERON:0010708", + "UBERON:0002204", "UPHENO:0086700", - "UPHENO:0078606", - "HP:0011991", - "UPHENO:0002896", + "UPHENO:0086019", + "UBERON:0019221", + "GO:0044848", + "UBERON:0001460", + "UBERON:0002513", + "UBERON:0011138", + "GO:0022414", + "UPHENO:0076727", + "HP:0005927", + "UBERON:0003101", "HP:0045060", - "GO:0007610", - "UBERON:0002199", - "UBERON:5002544", - "UBERON:0010707", - "CL:0000988", + "UPHENO:0086633", + "UBERON:0006717", + "UPHENO:0001003", + "UPHENO:0076810", + "HP:0009815", + "UPHENO:0080352", + "UBERON:0000075", + "CL:0000775", + "UPHENO:0088186", + "UBERON:0011582", + "GO:0006996", + "HP:0008678", + "UPHENO:0085263", + "UPHENO:0052178", + "CL:0000225", + "UBERON:0001440", + "HP:0009380", + "UPHENO:0060026", + "UPHENO:0002378", + "GO:0003008", + "UBERON:0010538", "HP:0001167", - "UBERON:0010740", - "UBERON:5001463", - "HP:0009998", - "HP:0100887", - "UBERON:0005177", - "UBERON:0002529", "HP:0040064", - "HP:0009380", - "UPHENO:0009341", - "UPHENO:0084448", - "HP:0009115", - "HP:0002817", - "UBERON:0010363", - "UPHENO:0076740", - "UPHENO:0049587", - "UBERON:0002470", - "UPHENO:0051124", - "UPHENO:0069254", - "UBERON:0004710", - "UBERON:0008785", - "HP:0001892", - "UBERON:0001440", - "UPHENO:0002905", - "UPHENO:0080325", - "UBERON:0004381", + "UPHENO:0008523", + "UPHENO:0087518", + "OBI:0100026", + "UPHENO:0080300", + "UPHENO:0009382", + "UBERON:0004708", + "UPHENO:0085068", + "UPHENO:0021474", + "UBERON:5001463", "UBERON:0012140", - "UPHENO:0086635", - "UPHENO:0026183", - "UBERON:0011676", - "UPHENO:0084766", + "UBERON:0005451", + "UBERON:0019231", + "UPHENO:0002844", + "BFO:0000015", + "UPHENO:0049587", + "UBERON:0000026", + "UPHENO:0049952", + "HP:0040068", + "UPHENO:0002708", + "UBERON:0012141", + "HP:0012759", "UBERON:0002097", - "HP:0007364", - "UPHENO:0002830", - "UPHENO:0002880", - "UBERON:0002091", - "UBERON:0004176", + "UBERON:0003135", + "HP:0009822", "UBERON:0002428", + "UPHENO:0054957", "UBERON:0007272", - "UPHENO:0005651", - "UPHENO:0053588", - "UBERON:0002102", - "UPHENO:0050021", - "UPHENO:0002964", - "UBERON:0002544", - "UPHENO:0086956", - "UPHENO:0085144", - "HP:0002977", - "UBERON:5002389", - "UPHENO:0018390", - "UBERON:0010708", - "HP:0000002", - "HP:0011842", - "HP:0001017", - "UPHENO:0088321", - "UPHENO:0076724", - "HP:0001155", - "UPHENO:0049940", - "NCBITaxon:1", - "UPHENO:0008523", - "UPHENO:0087006", - "UPHENO:0087510", - "UPHENO:0086633", - "UBERON:0002371", - "HP:0000077", - "UPHENO:0080114", - "UBERON:0001474", - "CL:0000255", - "HP:0000818", - "UBERON:0000990", - "UPHENO:0050625", - "UPHENO:0074589", - "UPHENO:0066927", - "UPHENO:0000541", - "UPHENO:0087339", - "UPHENO:0075220", - "UPHENO:0003055", - "PR:000050567", - "HP:0000080", - "UBERON:0006800", - "GO:0006325", - "CL:0002242", - "HP:0000078", - "UPHENO:0053644", - "HP:0009601", - "GO:0051319", - "GO:0051325", - "GO:0044848", - "GO:0009987", - "HP:0011018", - "UBERON:0010000", - "GO:0007049", - "UPHENO:0050121", - "UPHENO:0087501", - "HP:0003214", - "UPHENO:0004523", - "HP:0025461", - "GO:0005623", - "HP:0004742", - "UBERON:0001456", - "UPHENO:0075787", - "UBERON:0001436", - "UPHENO:0080662", - "UPHENO:0088170", - "UBERON:0000948", - "GO:0048519", - "HP:0040070", - "UBERON:0002090", - "UBERON:0000991", - "UPHENO:0031839", - "UBERON:0002416", - "GO:0048523", - "UPHENO:0054970", - "HP:0000951", - "UBERON:0011582", - "HP:0011276", - "GO:0044237", - "HP:0001574", - "HP:0000240", - "HP:0001172", - "UBERON:0004175", - "HP:0012638", - "UPHENO:0074584", - "HP:0000478", - "UPHENO:0026028", - "UPHENO:0074575", - "UPHENO:0001005", - "UPHENO:0054957", - "UPHENO:0003116", - "UPHENO:0076739", - "HP:0011446", + "GO:0050890", + "UBERON:0000073", + "GO:0034641", + "HP:0000929", + "HP:0010461", + "UBERON:0000153", + "GO:0043933", + "UPHENO:0002896", + "UBERON:0001434", "UPHENO:0050008", - "NCBITaxon:33208", - "UPHENO:0085302", - "UBERON:0010314", - "GO:0006259", - "OBI:0100026", - "UPHENO:0086589", - "HP:0011961", - "UPHENO:0003811", - "UPHENO:0076702", - "HP:0011028", - "UBERON:0011250", + "HP:0006496", + "HP:0009778", + "UPHENO:0081435", + "PATO:0000001", + "UPHENO:0002832", + "GO:0032502", + "HP:0032251", + "HP:0012638", "UPHENO:0049367", - "UPHENO:0022529", - "UBERON:0012139", - "UBERON:0015023", - "UPHENO:0010795", - "UBERON:0003607", - "UPHENO:0087518", - "UPHENO:0076805", + "UPHENO:0075997", + "UBERON:0002371", + "UPHENO:0049671", + "HP:0009601", + "HP:0012373", + "HP:0100542", + "UBERON:0000916", "UPHENO:0084763", - "UPHENO:0088166", "HP:0010935", - "UBERON:0002398", - "GO:0033554", - "UPHENO:0009382", - "UBERON:0004100", - "HP:0000234", - "UPHENO:0085356", - "HP:0000980", - "HP:0100547", - "UBERON:0001890", - "HP:0000152", - "UBERON:0007811", - "UPHENO:0002910", - "HP:0002011", - "HP:0009121", - "UPHENO:0002764", - "HP:0011844", - "UPHENO:0049701", - "UPHENO:0053298", - "HP:0001877", - "UPHENO:0011498", - "UBERON:0010912", - "UBERON:0000020", - "UPHENO:0076799", - "UPHENO:0075195", - "UBERON:0012141", - "UPHENO:0080126", - "UBERON:0005172", - "HP:0000252", + "UPHENO:0088148", + "UPHENO:0049940", + "UPHENO:0085984", + "UBERON:0005173", + "UBERON:0005177", + "UBERON:0002049", + "UBERON:0001016", + "HP:0011446", + "UPHENO:0084766", + "UBERON:0015212", + "BFO:0000040", + "BFO:0000004", + "UBERON:8450002", + "UPHENO:0053644", + "UPHENO:0085195", + "UBERON:0010000", + "UBERON:0002390", + "UBERON:0011250", + "UPHENO:0086176", + "UBERON:0010758", + "UPHENO:0087846", + "UBERON:5006048", + "UBERON:0003133", + "UBERON:0003103", + "HP:0020047", + "GO:0007276", + "HP:0005561", + "HP:0010987", + "HP:0011893", + "HP:0000001", + "UPHENO:0074584", + "UBERON:0001442", + "GO:0032501", + "UBERON:0013701", + "HP:0009998", + "GO:0016043", + "UPHENO:0015280", + "UPHENO:0075902", "HP:0001881", - "HP:0000079", - "RO:0002577", - "HP:0006265", + "UBERON:0001008", + "UBERON:0011249", + "HP:0001874", + "UPHENO:0076692", + "UPHENO:0002536", + "UBERON:0012151", + "HP:0011017", + "NCBITaxon:33208", + "CL:0000081", + "UPHENO:0002598", + "UPHENO:0063722", + "UBERON:0002398", + "UBERON:0009569", + "UPHENO:0088335", + "HP:0000924", "UBERON:0004121", - "UBERON:0000955", - "UBERON:0015025", - "CL:0000300", - "HP:0008678", - "HP:0000708", - "UBERON:0001968", - "UPHENO:0081451", - "UPHENO:0046505", - "UPHENO:0020888", - "UBERON:0002075", - "UPHENO:0080221", - "UPHENO:0081435", - "HP:0002060", - "UPHENO:0008668", - "UBERON:0003221", - "UPHENO:0066972", - "UBERON:0005944", - "UBERON:0002104", + "GO:0043170", + "HP:0011961", + "UPHENO:0077426", + "HP:0009997", "HP:0001875", - "UBERON:0011137", - "UBERON:0034925", - "UPHENO:0081466", + "UPHENO:0076724", + "UPHENO:0081451", + "UBERON:0002101", + "UPHENO:0002406", + "UBERON:0001444", + "UPHENO:0018390", + "UBERON:0002193", + "HP:0000077", + "UBERON:0002199", + "HP:0000152", + "GO:0048523", + "HP:0000079", + "UPHENO:0026128", + "UPHENO:0085330", "UPHENO:0076703", - "UPHENO:0005433", + "HP:0003974", + "GO:0044237", + 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"UBERON:0005172", + "CL:0001035", + "HP:0011991", + "UPHENO:0059829", + "HP:0002715", + "HP:0011297", + "HP:0003214", + "UPHENO:0085118", + "UBERON:0002113", + "UPHENO:0012274", + "UPHENO:0087006", + "UPHENO:0085144", + "UBERON:0034923", + "UBERON:0004054", + "UPHENO:0087802", + "UBERON:0012358", + "CL:0000000", + "UBERON:0002470", + "UPHENO:0075696", + "HP:0011842", + "UPHENO:0088170", + "UBERON:0010740", + "UPHENO:0086016", "BFO:0000003", - "UPHENO:0076675", - "UBERON:0002616", - "HP:0008373", - "HP:0011121", - "UPHENO:0068971", - "UBERON:0003103", - "UBERON:0004375", - "HP:0012130", - "UBERON:0005881", - "HP:0001000", - "HP:0011893", - "UPHENO:0086176", - "UBERON:0005173", - "UBERON:0002417", - "HP:0006496", + "UBERON:5002389", + "UPHENO:0086049", + "PR:000050567", + "UPHENO:0085371", + "HP:0025354", + "CL:0002242", + "UPHENO:0085405", + "HP:0010974", + "UPHENO:0085070", + "CL:0000019", + "UPHENO:0080114", + "UPHENO:0005433", + "HP:0001155", + "UBERON:0015001", + "UPHENO:0087427", + 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"HP:0000549", + "UPHENO:0076675", + "UPHENO:0050108", + "HP:0100543", + "CL:0000408", + "GO:0007283", + "UPHENO:0075220", + "UPHENO:0087907", + "HP:0006501", + "BFO:0000020", + "UBERON:0012354", + "UPHENO:0081566", + "NCBITaxon:1", + "HP:0000252", + "HP:0000234", + "UPHENO:0085873", + "UPHENO:0086589", "UPHENO:0076791", - "UBERON:0001893", - "UBERON:0000916", - "GO:0032501", - "UBERON:0005451", - "HP:0100542", - "NBO:0000313", - "UBERON:0004535", - "HP:0000119", - "UPHENO:0041226", + "UBERON:5102544", + "UPHENO:0080377", + "UBERON:0011137", + "UBERON:0000489", + "UBERON:0010323", + "UBERON:0002090", + "GO:0048232", + "UBERON:0001017", + "UBERON:0001032", + "UPHENO:0026181", + "UPHENO:0002964", + "HP:0012443", + "UBERON:0002616", + "UPHENO:0054970", + "UBERON:0015025", + "HP:0012758", + "HP:0002011", "UPHENO:0046707", + "UPHENO:0074575", + "UPHENO:0080200", + "UBERON:0001890", + "NCBITaxon:33154", + "UBERON:0001893", + "UBERON:0000033", + "HP:0040012", + "UBERON:0010707", + "UPHENO:0022529", + "HP:0000032", + "UBERON:0000475", + "UPHENO:0076702", + "UBERON:0007811", + "UPHENO:0088338", + "UPHENO:0050101", + "UPHENO:0075195", + "HP:0009121", + "UPHENO:0080362", + "BFO:0000001", "UPHENO:0002635", - "UPHENO:0026506", - "UBERON:5006048", - "UBERON:0012357", - "UBERON:0001008", - "HP:0011025", - "HP:0009943", - "UBERON:0002390", - "UBERON:0034923", - "UPHENO:0079876", - "UPHENO:0002844", - "UPHENO:0085405", - "UPHENO:0050620", - "UBERON:0004122", - "HP:0000001", - "UPHENO:0075902", - "UBERON:0011216", - "UBERON:0000062", - "UPHENO:0002903", - "UPHENO:0076727", - "UPHENO:0002332", - "HP:0002813", - "UBERON:0015061", - "GO:0008150", - "HP:0040068", - "UPHENO:0087907", - "GO:0071824", - "UPHENO:0002642", - "HP:0100543", - "HP:0001249", - "UBERON:0000075", - "UPHENO:0084447", - "UPHENO:0049874", - "PATO:0000001", - "HP:0009825", - "UPHENO:0015280", - "UPHENO:0000543", - "UPHENO:0050116", - "UBERON:0002471", - "UPHENO:0076718", - "UBERON:0010323", - "UPHENO:0002219", - "NCBITaxon:131567", - "UPHENO:0087123", - "UPHENO:0085042", - "UPHENO:0085354", - "UPHENO:0081423", - "HP:0001909", - "UPHENO:0003020", - "UBERON:0010712", - "GO:0022403", - "UPHENO:0085118", + "HP:0001626", + "UBERON:0001009", + "UBERON:0000948", + "UPHENO:0005016", + "UBERON:0007100", "NCBITaxon:6072", + "UPHENO:0076776", + "UBERON:0000915", + "UBERON:0005181", + "HP:0030680", + "UPHENO:0080221", + "HP:0001034", + "HP:0004275", + "UBERON:0010314", + "HP:0001873", + "UPHENO:0080662", + "UBERON:0002417", + "UPHENO:0074572", + "UPHENO:0082682", + "HP:0033127", + "HP:0007400", + "UBERON:0002416", + "UBERON:0002102", + "UPHENO:0003811", + "UBERON:0000481", + "HP:0000957", + "HP:0009823", + "HP:0011121", + "HP:0000002", + "UPHENO:0076740", + "HP:0000953", + "UBERON:0004710", + "UPHENO:0088162", + "UPHENO:0074589", "GO:0050794", - "HP:0000104", - "GO:0050890", - "HP:0000486", - "UPHENO:0004459", + "UPHENO:0085875", + "UBERON:0003460", + "HP:0012733", + "UPHENO:0026023", + "HP:0001574", + "RO:0002577", + "HP:0000951", + "UPHENO:0085076", + "GO:0043473", + "HP:0011028", + "UBERON:0010712", + "HP:0000080", + "UPHENO:0003055", + "UBERON:0005156", + "UPHENO:0080126", + "UBERON:0015204", + "UPHENO:0003020", + "UBERON:0005944", + "UBERON:0000991", "HP:0001903", - "UPHENO:0076779", - "UBERON:0003133", - "UBERON:0001016", - "HP:0005922", - "GO:0050877", - "HP:0000081", - "HP:0000271", - "UPHENO:0085371", - "UBERON:0006058", - "GO:0009889", - "CL:0000219", - "UPHENO:0087355", - "UPHENO:0084928", - "UBERON:0002193", - "HP:0032309", - "UPHENO:0086019", - "UBERON:0001017", - "HP:0031704", - "UPHENO:0085189", - "UBERON:0002101", - "UPHENO:0049952", - "UBERON:0009569", - "UBERON:0007798", - "UPHENO:0077426", - "HP:0032251", - "UBERON:0002204", - "UBERON:0011143", - "UBERON:0013701", - "HP:0010987", - "UPHENO:0086045", - "UPHENO:0002406", - "BFO:0000001", - "UPHENO:0060026", + "UPHENO:0004459", + "UPHENO:0003116", + "UPHENO:0066972", + "HP:0000818", + "UBERON:0000990", + "HP:0008373", "HP:0000118", - "UBERON:0001690", - "UPHENO:0063722", - "HP:0011297", - "UPHENO:0075696", - "UPHENO:0076692", - "HP:0000085", - "UBERON:0019221", - "HP:0000135", - "UPHENO:0087472", - "BFO:0000020", - "HP:0003213", - "HP:0002715", - "HP:0010974", - "HP:0009142", - "UPHENO:0001002", - "CL:0000775", - "UBERON:0001442", - "UPHENO:0002803", - "HP:0009822", - "UBERON:0010538", - "CL:0000233", - "HP:0000028", - "UBERON:0015212", - "CL:0000738", - "UPHENO:0035025", - "HP:0025354", - "UPHENO:0006910", - "UBERON:0000970", - "UPHENO:0088338", - "UBERON:0004120", - "UPHENO:0001001", - "UPHENO:0088176", - "CL:0002422", - "UBERON:0001062", - "UPHENO:0082444", + "HP:0001876", + "UPHENO:0024906", + "HP:0000078", + "UPHENO:0082875", + "HP:0011355", + "HP:0000104", + "UPHENO:0008593", + "UPHENO:0026980", + "GO:1901360", + "HP:0000980", + "UBERON:0000061", + "UPHENO:0025211", + "HP:0025461", + "UPHENO:0009399", + "CL:0000232", + "UBERON:0004375", + "HP:0011873", "UPHENO:0054261", - "UPHENO:0086016", - "HP:0000978", - "UBERON:0002405", - "UPHENO:0020584", - "NBO:0000444", - "HP:0009777", - "HP:0001939", - "CL:0000763", - "UPHENO:0086005", - "HP:0000707", - "HP:0001911", - "UPHENO:0059829", - "UPHENO:0087802", - "UBERON:0000489", - "UBERON:0000153", + "NCBITaxon:131567", + "HP:0001017", + "UPHENO:0087089", + "CL:0000764", + "UBERON:0001474", + "CL:0000329", + "UBERON:0001690", + "UBERON:0015410", + "UPHENO:0086173", + "CL:0000457", + "UPHENO:0086045", + "HP:0011875", + "UPHENO:0087355", + "UPHENO:0087339", + "UBERON:0011584", + "UPHENO:0084987", + "UPHENO:0085042", + "HP:0012145", "UPHENO:0084761", - "UPHENO:0052178", - "NCBITaxon:2759", - "UBERON:0000468", - "UBERON:0010741", - "HP:0000815", - "CL:0000094", - "HP:0011314", - "UPHENO:0085984", - "HP:0001507", + "HP:0001872", + "CL:0000458", + "CL:0000151", + "UPHENO:0081755", + "UBERON:0002471", + "UPHENO:0026028", + "UPHENO:0084928", + "UPHENO:0085302", + "GO:0048519", + "UBERON:0006058", + "UPHENO:0085874", "HP:0001871", - "UBERON:5106048", - "UBERON:0001463", - "GO:0043170", - "UPHENO:0002433", - "UBERON:0000061", - "UBERON:0015203", - "UBERON:0007100", - "UPHENO:0085330", - "UPHENO:0085344", - "UBERON:0002389", - "GO:0009892", - "UPHENO:0088335", + "UBERON:0000079", "UPHENO:0086201", - "UBERON:0002513", - "GO:0050896", - "UBERON:0000475", - "UBERON:0000467", - "UBERON:0015204", - "UPHENO:0024906", - "HP:0002818", - "HP:0012759", - "UBERON:0006048", - "GO:0008152", - "UBERON:0000073", - "HP:0003221", - "BFO:0000004", - "UBERON:0000047", - "UPHENO:0026023", - "HP:0000929", - "UPHENO:0085068", - "GO:0043473", - "BFO:0000040", - "CL:0000081", - "UBERON:0019231", - "GO:0031323", - "UPHENO:0086002", - "UBERON:0011249", - "UPHENO:0085076", - "UPHENO:0080099", - "HP:0000953", - "UPHENO:0087089", - "HP:0000032", - "UBERON:0004288", - "UBERON:0012354", - "UPHENO:0088162", + "HP:0001000", + "UPHENO:0080382", + "GO:0003006", + "HP:0004742", + "UBERON:0003620", + "HP:0012130", + "CL:0000300", "UPHENO:0005597", - "UPHENO:0002378", - "UPHENO:0082875", - "UPHENO:0076723", - "UBERON:0005156", - "UPHENO:0085195", - "CL:0000000", - "UBERON:0000465", - "HP:0003220", - "UBERON:0000026", + "CL:0000586", + "UPHENO:0052231", + "HP:0000028", + "HP:0001627", + "UPHENO:0049970", + "GO:0000003", + "HP:0000811", + "HP:0005918", + "HP:0012243", + "UPHENO:0085356", + "GO:0019953", + "HP:0001172", + "UBERON:0011676", + "HP:0002973", + "HP:0000025", + "HP:0001510", + "UPHENO:0086023", + "UBERON:0004288", + "UPHENO:0002830", + "UBERON:0015228", + "CL:0000015", + "UPHENO:0076941", + "UPHENO:0002764", + "UPHENO:0002597", + "UBERON:0011216", + "UBERON:0004175", + "UBERON:0004176", + "UPHENO:0076799", + "HP:0000119", + "UPHENO:0081511", + "HP:0008669", + "HP:0000035", + "HP:0004322", + "UPHENO:0087973", + "UPHENO:0086198", + "UPHENO:0079826", + "UBERON:0004122", + "UPHENO:0002595", + "CL:0000413", + "CL:0000039", + "UPHENO:0086635", + "HP:0000240", + "HP:0000812", + "UBERON:0015021", + "UBERON:0002386", + "UPHENO:0002332", + "HP:0012874", + "UPHENO:0041821", + "HP:0009825", + "UPHENO:0052778", + "GO:0050877", + "HP:0011927", + "UBERON:0015063", + "UPHENO:0078729", "UBERON:0000463", - "CL:0000225", - "UPHENO:0001003", + "UPHENO:0078452", + "UPHENO:0053298", + "HP:0001249", + "UBERON:0001968", + "GO:0048609", + "HP:0003953", + "UBERON:0000473", + "UPHENO:0086005", + "UBERON:0004053", + "UBERON:0000955", + "UBERON:0010703", + "UBERON:0010912", + "CL:0000094", + "HP:0040072", + "UPHENO:0086956", + "GO:0071840", + "HP:0002813", + "HP:0002818", + "UPHENO:0079872", + "UPHENO:0009341", + "GO:0006725", + "UPHENO:0087501", + "UBERON:0013702", + "UPHENO:0080187", + "UBERON:0002405", + "UPHENO:0021561", + "UBERON:0003606", + "UBERON:0002104", + "HP:0006503", + "HP:0009142", + "UBERON:0004535", + "UPHENO:0002751", + "UBERON:0002495", + "UBERON:0001423", + "UBERON:0010741", + "UPHENO:0069254", + "UBERON:0000949", + "UBERON:0003466", + "HP:0001911", + "UBERON:0006048", + "UPHENO:0025945", + "UPHENO:0005651", + "UPHENO:0076718", + "HP:0040070", + "UPHENO:0008668", + "UPHENO:0068971", + "UPHENO:0046411", + "HP:0004325", + "UPHENO:0031839", ], "has_phenotype_closure_label": [ - "abnormal shape of continuant", - "concave 3-D shape anatomical entity", + "shape anatomical entity", "Horseshoe kidney", "3-D shape anatomical entity", - "shape anatomical entity in independent continuant", - "abnormal DNA damage response", - "DNA damage response", + "U-shaped anatomical entity", + "DNA repair", "Deficient excision of UV-induced pyrimidine dimers in DNA", - "cellular response to stimulus", - "Abnormality of DNA repair", - "decreased sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "Abnormal ear physiology", - "Abnormality of the ear", - "abnormality of ear physiology", + "abnormal response to stress", + "abnormal cellular response to stress", "abnormal DNA repair", + "response to stress", + "cell cycle phase", + "Abnormality of the cell cycle", + "G2 phase", + "decreased qualitatively sensory perception of mechanical stimulus", + "decreased sensory perception of sound", + "abnormal ear", + "abnormal sensory perception", "Hearing abnormality", - "non-material anatomical boundary", - "abnormal behavior", - "response to stimulus", - "eye movement", + "ear", + "sensory perception of sound", + "body part movement", + "concave 3-D shape anatomical entity", + "Abnormality of eye movement", "anatomical line", + "immaterial anatomical entity", + "Strabismus", "abnormal response to stimulus", - "Abnormality of eye movement", - "Abnormal eye physiology", - "abnormality of camera-type eye physiology", - "abnormal behavior process", - "abnormal size of multicellular organism", - "decreased height of the anatomical entity", - "decreased size of the multicellular organism", - "abnormality of anatomical entity height", - "delayed growth", - "Growth delay", + "response to stimulus", + "behavior process", + "abnormal eye movement", + "eye movement", + "behavior", + "delayed biological_process", + "Short stature", "Abnormality of body height", + "abnormal DNA damage response", + "delayed growth", + "abnormal size of multicellular organism", "decreased height of the multicellular organism", "abnormality of multicellular organism height", - "ear", - "Neoplasm by anatomical site", - "delayed biological_process", - "Irregular hyperpigmentation", - "Hypermelanotic macule", - "abnormal response to stress", - "Cafe-au-lait spot", - "Localized skin lesion", - "Strabismus", - "circulatory organ", - "thoracic segment organ", - "heart plus pericardium", - "Abnormality of cardiovascular system morphology", - "primary circulatory organ", - "vasculature", - "cardiovascular system", + "Neoplasm", + "Hematological neoplasm", + "Generalized abnormality of skin", "Internal hemorrhage", - "thoracic segment of trunk", - "vascular system", - "abnormality of cardiovascular system physiology", "Abnormality of the vasculature", - "Abnormal cardiovascular system physiology", - "abnormal cardiovascular system", - "circulatory system process", - "Complete duplication of phalanx of hand", - "Duplication of hand bones", - "manual digit digitopodial skeleton", - "skeleton of manual acropodium", - "Abnormal long bone morphology", + "blood circulation", + "Vascular skin abnormality", + "Abnormality of blood circulation", + "vasculature", + "abnormality of cardiovascular system physiology", + "Abnormal bleeding", + "Bruising susceptibility", + "Subcutaneous hemorrhage", + "vascular system", + "abnormal anatomical entity morphology in the skeleton of manus", "Abnormality of thumb phalanx", - "Abnormal finger phalanx morphology", - "sensory perception of sound", - "abnormal phalanx of manus morphology", + "manual digitopodium bone", + "Duplication of bones involving the upper extremities", "phalanx", - "digitopodium bone", - "U-shaped anatomical entity", - "manual digit 1 phalanx endochondral element", + "phalanx endochondral element", + "manual digit phalanx endochondral element", + "abnormal phalanx morphology", + "abnormal phalanx of manus morphology", "Duplication of phalanx of hand", - "individual digit of digitopodial skeleton", - "Duplication of thumb phalanx", - "biological regulation", - "abnormal primary metabolic process", - "Leukemia", + "acropodial skeleton", + "manual digit bone", + "digit 1 digitopodial skeleton", + "manual digit digitopodial skeleton", + "digitopodium bone", + "skeleton of manual acropodium", + "abnormal primary metabolic process", + "Abnormality of metabolism/homeostasis", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "vestibulo-auditory system", + "protein-DNA complex organization", + "Abnormality of DNA repair", + "abnormal organelle organization", + "regulation of biosynthetic process", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process", + "protein-containing complex organization", + "regulation of biological process", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", + "abnormal cellular component organization", + "Chromosome breakage", + "negative regulation of gene expression", + "abnormal metabolic process", + "cellular response to stimulus", "Chromosomal breakage induced by crosslinking agents", - "organic substance metabolic process", + "metabolic process", + "cellular process", + "abnormal DNA metabolic process", + "decreased height of the anatomical entity", "regulation of cellular process", - "regulation of metabolic process", - "Vascular skin abnormality", "negative regulation of biological process", - "Generalized abnormality of skin", "nucleobase-containing compound metabolic process", "organic cyclic compound metabolic process", + "Duplicated collecting system", + "macromolecule metabolic process", "obsolete heterocycle metabolic process", - "immaterial entity", "obsolete cellular aromatic compound metabolic process", "obsolete cellular nitrogen compound metabolic process", - "response to stress", "cellular component organization", - "regulation of biosynthetic process", - "regulation of cellular metabolic process", - "negative regulation of cellular process", - "organelle organization", - "regulation of gene expression", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", "negative regulation of macromolecule biosynthetic process", "negative regulation of cellular biosynthetic process", - "programmed DNA elimination", - "cellular metabolic process", - "negative regulation of gene expression", - "Chromosome breakage", - "regulation of cellular biosynthetic process", - "negative regulation of biosynthetic process", - "negative regulation of macromolecule metabolic process", - "negative regulation of cellular metabolic process", - "DNA metabolic process", - "decreased multicellular organism mass", - "growth", - "Hearing impairment", - "Decreased body weight", - "Small for gestational age", - "Decreased multicellular organism mass", - "visual system", - "manual digit 1 phalanx", "chromatin organization", + "abnormal chromatin organization", + "abnormal growth", + "Decreased multicellular organism mass", + "abnormality of multicellular organism mass", + "abnormal cell cycle", + "Duplication of thumb phalanx", + "abnormality of anatomical entity mass", + "decreased anatomical entity mass", + "abnormal size of eyeball of camera-type eye", + "abnormal face morphology", + "Abnormal eye morphology", + "abnormal orbital region", + "Abnormality of the face", + "simple eye", "sensory system", - "eye", - "face", - "orbital region", - "Aplasia/Hypoplasia affecting the eye", - "Microphthalmia", - "subdivision of head", - "entire sense organ system", + "Abnormality of the eye", + "abnormal face", + "sense organ", + "eyeball of camera-type eye", "camera-type eye", - "negative regulation of metabolic process", + "Microphthalmia", + "orbital region", + "Abnormality of the orbital region", + "abnormal eyeball of camera-type eye", "abnormal camera-type eye morphology", - "Abnormality of globe size", - "Abnormality of the eye", - "primary metabolic process", - "abnormal enucleated reticulocyte morphology", - "abnormal vasculature", - "Abnormal reticulocyte morphology", - "Complete duplication of thumb phalanx", - "abnormal number of anatomical enitites of type reticulocyte", - "anatomical line between pupils", + "decreased size of the eyeball of camera-type eye", + "visual system", "abnormally decreased number of reticulocyte", - "Short finger", - "decreased size of the anatomical entity in the pectoral complex", - "Neurodevelopmental delay", - "decreased size of the anatomical entity in the independent continuant", - "decreased length of manual digit", - "sensory perception", - "decreased length of anatomical entity", - "decreased length of manual digit 1", - "Short digit", - "autopod endochondral element", - "autopod bone", - "phalanx of manus", - "decreased length of anatomical entity in independent continuant", - "decreased length of digit", - "decreased size of the anatomical entity", - "aplastic forelimb zeugopod bone", - "absent forelimb zeugopod bone", - "sensory perception of mechanical stimulus", - "Aplasia involving forearm bones", - "abnormal limb long bone morphology", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "abnormal forelimb zeugopod bone", - "body part movement", - "absent radius bone in the forelimb", - "manual digit 1 digitopodial skeleton", - "abnormal forelimb zeugopod morphology", - "abnormal long bone morphology", - "Abnormal forearm bone morphology", - "behavior process", - "Aplasia/hypoplasia involving forearm bones", - "absent radius bone in the independent continuant", - "absent radius bone", - "zeugopod", - "macromolecule metabolic process", - "bone of pectoral complex", - "Atypical behavior", - "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "abnormal bone of pectoral complex morphology", - "Abnormal upper limb bone morphology", - "arm bone", - "forelimb long bone", - "radius bone", - "Aplasia involving bones of the extremities", - "long bone", - "Absent forearm bone", - "abnormal number of anatomical enitites of type sperm", - "abnormality of male reproductive system physiology", - "gamete", - "semen", - "developmental process", - "reproduction", - "Abnormal internal genitalia", - "Abnormal testis morphology", - "developmental process involved in reproduction", + "reticulocyte", "multicellular organismal reproductive process", - "abnormal reproductive process", - "decreased qualitatively developmental process", - "absent anatomical entity in the semen", - "gamete generation", - "abnormal male reproductive system morphology", - "spermatogenesis", - "absent sperm", - "zeugopodial skeleton", - "male gamete generation", - "abnormally localised testis", - "Global developmental delay", - "abnormal multicellular organismal reproductive process", - "absent gamete", - "manual digit bone", - "decreased spermatogenesis", - "abnormal male reproductive system", - "decreased qualitatively sensory perception of sound", - "absent sperm in the semen", - "obsolete multicellular organism reproduction", - "Azoospermia", - "Abnormality of the male genitalia", - "sperm", - "external genitalia", - "anatomical cluster", - "internal genitalia", - "abnormal reproductive system morphology", - "decreased qualitatively biological_process", - "Abnormal spermatogenesis", - "vestibulo-auditory system", - "forelimb endochondral element", - "absent germ cell", - "abnormal internal genitalia", - "external male genitalia", - "abnormal external male genitalia", + "Non-obstructive azoospermia", + "axial skeleton plus cranial skeleton", + "abnormality of anatomical entity physiology", + "abnormal hematopoietic system morphology", + "Abnormality of mental function", + "abnormal cardiovascular system morphology", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "Duplication of hand bones", + "abnormal nitrogen compound metabolic process", + "nervous system process", + "system process", + "abnormal limb morphology", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "organ", + "cellular response to stress", + "appendicular skeleton", + "upper limb segment", + "appendicular skeletal system", + "arm", + "endochondral bone", + "subdivision of skeleton", + "Abnormal cardiovascular system physiology", + "Aplasia/Hypoplasia of the radius", + "entity", + "negative regulation of cellular process", + "abnormal limb", + "manus", + "head", + "abnormal digit", + "thoracic segment of trunk", + "Abnormal appendicular skeleton morphology", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "system", + "aplasia or hypoplasia of manual digit 1", + "bone of appendage girdle complex", + "Abnormal finger phalanx morphology", + "pigmentation", + "genitourinary system", "decreased qualitatively reproductive process", - "decreased developmental process", - "abnormal developmental process", - "abnormality of internal male genitalia physiology", - "abnormal gamete generation", - "abnormal heart morphology", - "abnormal external genitalia", - "abnormal developmental process involved in reproduction", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "abnormal orbital region", - "bone marrow cell", - "obsolete nitrogen compound metabolic process", - "platelet", - "biogenic amine secreting cell", - "Short thumb", - "germ line cell", - "bone cell", - "sexual reproduction", - "anucleate cell", - "abnormal male reproductive organ morphology", - "bone marrow", - "secretory cell", - "manual digit phalanx endochondral element", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", - "abnormal bone marrow cell morphology", - "Abnormality of bone marrow cell morphology", - "decreased biological_process", - "serotonin secreting cell", - "forelimb bone", - "Abnormality of thrombocytes", - "abnormal platelet", - "Anemia", - "tissue", - "abnormal erythroid lineage cell morphology", - "nucleic acid metabolic process", - "Absent radius", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "absent kidney in the renal system", - "absent kidney", - "abnormal DNA metabolic process", - "abnormal chromatin organization", - "forelimb", - "abnormal anatomical entity morphology in the skeleton of manus", + "abnormal limb bone morphology", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal number of anatomical enitites of type granulocyte", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", "autopodial skeleton", - "abnormal blood circulation", - "Abnormal morphology of the radius", - "bone of free limb or fin", - "abnormal anatomical entity", - "motile cell", + "occurrent", + "abnormal male reproductive organ morphology", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "abnormal autopod region morphology", + "Absent thumb", + "paired limb/fin skeleton", + "Neurodevelopmental abnormality", + "subdivision of organism along appendicular axis", + "Abnormal male reproductive system physiology", + "digit plus metapodial segment", + "Cognitive impairment", + "abnormal male reproductive system", "paired limb/fin", - "abnormal anatomical entity morphology in the manus", - "pectoral appendage", - "abnormal anatomical entity morphology in the pectoral complex", - "central nervous system", - "absent anatomical entity", + "anatomical collection", + "All", + "increased qualitatively biological_process", + "Aplasia involving bones of the extremities", + "forelimb", + "Abnormal forebrain morphology", + "abnormal digit morphology", "abnormal manus", - "Finger aplasia", - "digitopodium region", "multi-limb segment region", - "trunk", + "endochondral element", + "bone element", + "Abnormality of the ear", + "abnormally decreased number of leukocyte", + "digit", + "Hyperpigmentation of the skin", + "manual digit plus metapodial segment", + "abnormal skeletal system", "digit 1 plus metapodial segment", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "male reproductive system", - "abnormal cell morphology", - "limb bone", - "abnormal arm", - "Abnormality of skull size", + "limb", + "Neoplasm by anatomical site", + "Decreased anatomical entity mass", + "Abnormality of the upper limb", + "cell", + "absent anatomical entity in the renal system", + "skeleton", + "male gamete generation", + "absent anatomical entity", + "regulation of metabolic process", + "Decreased body weight", + "autopodial extension", + "manual digit 1", + "abnormal immune system morphology", + "skeletal system", + "motile cell", + "Abnormality of limbs", + "Abnormality of limb bone morphology", "Abnormal digit morphology", + "multicellular organismal process", + "Aplasia/hypoplasia involving forearm bones", + "segment of manus", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal cellular metabolic process", + "musculoskeletal system", + "abnormal upper urinary tract", + "abnormally decreased number of myeloid cell", + "aplastic anatomical entity", + "face", "aplasia or hypoplasia of manual digit", - "absent anatomical entity in the skeletal system", - "Abnormal platelet count", - "abnormal forelimb morphology", - "autopodial extension", - "abnormal platelet morphology", - "Abnormality of reproductive system physiology", - "digit plus metapodial segment", - "erythrocyte", - "abnormal limb bone morphology", - "Aplasia/hypoplasia involving bones of the hand", - "G2 phase", - "manual digitopodium region", - "skeleton of digitopodium", - "skeleton of pectoral complex", - "abnormal appendicular skeleton morphology", - "Eumetazoa", - "segment of autopod", - "shape anatomical entity", - "Subcutaneous hemorrhage", - "regional part of nervous system", - "abnormal head", - "digit 1", - "Abnormal erythroid lineage cell morphology", - "male reproductive organ", - "reproductive structure", - "cell cycle", - "abnormal reproductive system", - "manual digit 1 or 5", - "Abnormal platelet morphology", - "abnormally decreased number of platelet", - "Aplasia involving bones of the upper limbs", - "system", - "subdivision of organism along main body axis", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the hand", - "Abnormal hand morphology", - "abnormal manual digit morphology in the independent continuant", - "aplasia or hypoplasia of skeleton", + "Aplasia/hypoplasia of the extremities", "forelimb skeleton", - "Intellectual disability", - "absent manual digit", - "digit 1 or 5", - "arm", - "Short stature", - "Abnormality of limb bone", - "abnormal size of eyeball of camera-type eye", - "abnormal face", - "aplastic anatomical entity", - "abnormal eye movement", - "subdivision of organism along appendicular axis", - "cellular response to stress", - "absent anatomical entity in the independent continuant", - "agenesis of anatomical entity", - "bone of appendage girdle complex", - "manual digit", - "Abnormality of limb bone morphology", - "glandular system", - "skull", "endocrine system", - "abnormal endocrine system", - "Abnormality of the cell cycle", - "Abnormal appendicular skeleton morphology", - "renal system", + "abnormally decreased functionality of the anatomical entity", + "agenesis of anatomical entity", + "abnormal anatomical entity morphology in the manus", + "cardiovascular system", + "acropodium region", + "Intellectual disability", + "bone marrow", + "skeleton of manus", + "skeleton of limb", + "Abnormality of skin pigmentation", + "Aplasia involving forearm bones", + "anatomical system", + "material anatomical entity", "Hypergonadotropic hypogonadism", - "reproductive organ", - "shape kidney", - "Abnormal forearm morphology", - "abnormally decreased number of anatomical entity", - "Hypogonadism", - "endochondral bone", - "abnormal limb bone", - "abnormally decreased functionality of the gonad", - "regional part of brain", - "abnormality of reproductive system physiology", - "digit 1 digitopodial skeleton", - "gonad", - "heart", - "upper limb segment", - "Abnormality of the genital system", - "decreased anatomical entity mass", - "increased pigmentation", - "anatomical entity dysfunction in independent continuant", - "increased pigmentation in skin of body", - "manual digit 1", - "cellular process", - "Abnormality of metabolism/homeostasis", - "Bruising susceptibility", - "cellular component organization or biogenesis", - "Abnormality of the face", - "Phenotypic abnormality", - "abnormal digit morphology", - "Abnormality of the genitourinary system", - "cell cycle phase", - "decreased size of the eyeball of camera-type eye", - "appendage girdle complex", + "abnormal enucleated reticulocyte morphology", + "nucleate cell", + "decreased qualitatively sensory perception of sound", "abnormal anatomical entity topology in independent continuant", - "limb segment", + "sexual reproduction", + "organ system subdivision", + "abnormal blood cell", + "erythrocyte", "Macule", - "Abnormality of the cardiovascular system", - "skin of body", - "abnormal biological_process", - "multi-tissue structure", - "Abnormal cellular physiology", - "Aplasia/hypoplasia of the extremities", - "biological phase", - "obsolete cell", - "interphase", - "Prolonged G2 phase of cell cycle", - "upper urinary tract", - "skeletal system", - "abnormally decreased functionality of the anatomical entity", - "abnormal ear", - "abdominal segment element", - "abnormal cell cycle", - "Abnormality of the upper limb", - "absent anatomical entity in the limb", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "DNA repair", - "Abnormality of the skeletal system", - "digit", - "abdominal segment of trunk", - "abnormal renal collecting system", - "Abnormal cellular immune system morphology", - "Duplicated collecting system", - "viscus", - "integumental system", - "reproductive process", - "abnormal pigmentation", - "Hyperpigmentation of the skin", - "increased qualitatively biological_process in independent continuant", - "reticulocyte", - "abnormal central nervous system morphology", - "increased biological_process", - "abnormal metabolic process", - "changed biological_process rate", - "abnormal integument", - "abnormal growth", - "increased biological_process in skin of body", - "abnormal eyeball of camera-type eye", - "abnormal pigmentation in independent continuant", - "abnormal biological_process in independent continuant", - "abnormal skin of body morphology", - "abnormal sensory perception of sound", - "abnormal testis morphology", - "reproductive system", - "absent anatomical entity in the forelimb", - "abnormal skin of body", - "testis", - "craniocervical region", - "abnormal cellular process", - "abnormal programmed DNA elimination by chromosome breakage", - "Abnormal leukocyte morphology", - "Abnormality of brain morphology", - "abnormally decreased number of leukocyte", - "skeletal element", - "Abnormality of mental function", - "Abnormality of the head", - "Abnormal reproductive system morphology", - "Pancytopenia", - "Morphological central nervous system abnormality", - "manus bone", - "Absent thumb", - "skeleton", - "abnormal anatomical entity morphology in the brain", - "Abnormality of body weight", - "abnormal telencephalon morphology", - "Abnormal conjugate eye movement", - "organ system subdivision", - "process", - "aplasia or hypoplasia of radius bone", + "renal system", + "abnormal kidney morphology", "main body axis", - "cellular organisms", - "organism", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "absent kidney in the independent continuant", - "manual digit plus metapodial segment", - "phalanx endochondral element", - "limb skeleton subdivision", - "Microcephaly", - "immune system", - "abnormal craniocervical region", - "postcranial axial skeletal system", - "paired limb/fin skeleton", + "decreased spermatogenesis", + "quality", + "abnormal manus morphology", + "abnormally decreased number of hematopoietic cell", + "phenotype by ontology source", + "excretory system", + "bone marrow cell", + "circulatory system", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "abnormal myeloid cell morphology", + "increased biological_process", + "Abnormality of the nervous system", + "abnormality of internal male genitalia physiology", + "absent digit", + "phenotype", + "Abnormal cell morphology", + "abnormal arm", + "Atypical behavior", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormal renal system", + "Abnormality of the upper urinary tract", + "hemolymphoid system", + "Aplasia/hypoplasia involving the skeleton", + "abdomen element", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "DNA damage response", + "lateral structure", + "abnormal vasculature", + "abnormal genitourinary system", + "changed developmental process rate", "Abnormal cerebral morphology", - "Non-obstructive azoospermia", + "abnormal blood circulation", + "arm bone", + "Short thumb", + "enucleated reticulocyte", + "Abnormality of the kidney", + "abnormal anatomical entity", + "Small for gestational age", + "Abnormal forearm morphology", + "abnormal immune system", + "abnormality of anatomical entity height", + "subdivision of organism along main body axis", + "abnormal leukocyte morphology", + "anatomical line between pupils", + "independent continuant", + "abnormal renal system morphology", + "abnormal forelimb morphology", + "abnormal location of anatomical entity", + "absent kidney in the renal system", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "reproduction", + "trunk region element", + "cell cycle", + "pectoral complex", + "Anemic pallor", "absent anatomical entity in the multicellular organism", - "anterior region of body", - "Abnormality of the integument", - "paired limb/fin segment", - "abnormally decreased number of neutrophil", - "granulocyte", - "abnormally decreased number of hematopoietic cell", - "Eukaryota", - "forebrain", - "Abnormality of multiple cell lineages in the bone marrow", - "anatomical collection", - "abnormal skull morphology", - "musculoskeletal system", - "abnormally localised anatomical entity in independent continuant", - "appendicular skeleton", - "Abnormal axial skeleton morphology", - "abnormal autopod region morphology", - "behavior", - "blood cell", - "erythroid lineage cell", - "abnormal size of anatomical entity", - "abnormal number of anatomical enitites of type platelet", "hematopoietic system", - "abnormal forebrain morphology", - "haploid cell", - "Abnormal renal morphology", - "Abnormality of limbs", + "thoracic cavity element", + "Abnormal cellular immune system morphology", + "Abnormal nervous system physiology", + "Abnormality of the immune system", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "skeletal element", + "zeugopod", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "external genitalia", + "renal collecting system", + "Ectopic kidney", + "subdivision of head", + "appendage girdle complex", + "Renal hypoplasia/aplasia", + "abnormality of ear physiology", + "absent anatomical entity in the forelimb", "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "root", - "Abnormal neutrophil count", - "abnormal organelle organization", - "abnormal head morphology", - "head", - "abnormally decreased number of granulocyte", - "abnormal sensory perception", - "Neurodevelopmental abnormality", - "Abnormal skull morphology", - "Neoplasm", - "abnormal bone marrow cell", - "system process", - "Abnormal granulocyte morphology", + "cellular metabolic process", + "Abnormality of neutrophils", + "leukocyte", + "abnormal gamete generation", + "decreased multicellular organism mass", + "Aplasia/Hypoplasia involving the central nervous system", + "continuant", + "abnormal neutrophil", + "ectoderm-derived structure", + "structure with developmental contribution from neural crest", + "phalanx of manus", + "negative regulation of biosynthetic process", + "material entity", + "long bone", + "regional part of nervous system", + "Abnormal conjugate eye movement", + "forelimb bone", + "non-connected functional system", + "abdominal segment element", + "abnormal reproductive system morphology", + "abnormal hematopoietic system", + "Renal agenesis", "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", + "gamete generation", + "Aplasia/Hypoplasia of the thumb", + "bone cell", "biological_process", - "subdivision of skeleton", - "circulatory system", - "sense organ", - "subdivision of skeletal system", - "male gamete", - "ectoderm-derived structure", - "telencephalon", - "manual digit 1 plus metapodial segment", - "Duplication of bones involving the upper extremities", - "abnormal postcranial axial skeleton morphology", - "eyeball of camera-type eye", - "changed biological_process rate in independent continuant", - "Thrombocytopenia", - "abnormal craniocervical region morphology", - "All", - "organism substance", - "Aplasia/Hypoplasia involving the central nervous system", - "protein-DNA complex organization", - "organ", - "programmed DNA elimination by chromosome breakage", - "abnormal bone marrow morphology", + "myeloid leukocyte", + "entire sense organ system", + "absent radius bone in the independent continuant", + "Abnormal localization of kidney", + "biological regulation", + "Global developmental delay", + "abdominal segment of trunk", + "abnormal central nervous system morphology", + "abnormal renal collecting system", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal phenotype by ontology source", + "Abnormal thumb morphology", + "subdivision of trunk", + "absent manual digit", + "manual digit 1 digitopodial skeleton", + "regulation of gene expression", + "pectoral appendage", + "body proper", + "cognition", + "appendage", + "root", + "abnormally localised anatomical entity in independent continuant", + "abnormality of nervous system physiology", "organism subdivision", - "abnormal gamete", - "Abnormal nervous system physiology", - "thoracic cavity element", - "Abnormality of the kidney", - "cavitated compound organ", - "Abnormality of the musculoskeletal system", - "abnormal size of skull", - "abnormal limb", - "trunk region element", - "pectoral complex", - "abnormal hematopoietic system", - "Anemic pallor", - "absent anatomical entity in the renal system", - "abdomen", - "acropodial skeleton", - "abnormal kidney", - "nervous system process", - "body proper", - "forelimb zeugopod", + "abnormally decreased number of myeloid cell in the independent continuant", + "cranial skeletal system", + "Abnormal eye physiology", + "segment of autopod", + "reproductive system", + "aplastic manual digit 1", + "skeleton of pectoral complex", + "abnormally localised anatomical entity", + "hematopoietic cell", + "abnormally decreased number of granulocyte", + "abnormal hematopoietic cell morphology", + "viscus", + "Abnormal granulocyte morphology", + "Abnormal cellular phenotype", + "abnormal limb bone", "Abnormal nervous system morphology", - "genitourinary system", - "abnormality of anatomical entity mass", - "abnormal cell", - "bone element", + "Complete duplication of phalanx of hand", + "limb bone", + "granulocyte", + "abnormal number of anatomical enitites of type anatomical entity", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "paired limb/fin segment", + "abnormality of camera-type eye physiology", + "immune system", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal manual digit 1 morphology", + "Absent forearm bone", + "Leukemia", + "abnormal cell morphology", "abnormal nervous system morphology", - "abnormal cardiovascular system morphology", - "Abnormal eye morphology", - "Abnormality of head or neck", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/hypoplasia involving bones of the extremities", - "skeleton of manual digitopodium", - "axial skeletal system", - "abnormality of nervous system physiology", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal genitourinary system", - "Abnormality of the upper urinary tract", - "enucleated reticulocyte", - "forelimb zeugopod bone", - "quality", - "aplasia or hypoplasia of anatomical entity", - "regulation of biological process", - "Abnormal thumb morphology", - "oxygen accumulating cell", - "Abnormal localization of kidney", - "subdivision of trunk", - "abdomen element", - "autopod region", - "compound organ", - "Abnormal renal collecting system morphology", - "male germ cell", - "limb", - "lateral structure", - "Cryptorchidism", - "non-connected functional system", - "abnormal leukocyte morphology", - "abnormally localised anatomical entity", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "phenotype", - "abnormal renal system", - "postcranial axial skeleton", - "abnormally localised kidney", - "absent digit", - "Abnormality of blood and blood-forming tissues", - "anatomical structure", - "Abnormality of the urinary system", - "Decreased anatomical entity mass", - "Abnormality of skin morphology", - "multicellular organismal process", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "blood cell", + "Abnormality of the genitourinary system", + "forebrain", + "Abnormality of the cardiovascular system", "Abnormal myeloid cell morphology", - "increased pigmentation in independent continuant", - "manual digitopodium bone", - "abnormal skeletal system morphology", - "absent sperm in the independent continuant", + "U-shaped kidney", + "digit 1 or 5", + "skeleton of manual digitopodium", + "primary circulatory organ", + "neutrophil", + "Complete duplication of thumb phalanx", + "manual digit 1 phalanx", + "abnormal forelimb zeugopod bone", + "Abnormal myeloid leukocyte morphology", + "Pancytopenia", + "abnormal head", + "organism", + "programmed DNA elimination", + "obsolete cell", "internal male genitalia", - "occurrent", - "Metazoa", - "Cognitive impairment", - "abnormal nervous system", - "abnormal cellular component organization", - "appendicular skeletal system", - "Abnormality of the nervous system", - "abnormal cellular metabolic process", - "acropodium region", - "pectoral appendage skeleton", - "nucleate cell", - "Abnormality of the orbital region", - "Abnormal cellular phenotype", - "entity", - "abnormal number of anatomical enitites of type hematopoietic cell", - "pigmentation", - "myeloid leukocyte", - "germ cell", - "abnormal spermatogenesis", - "segment of manus", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal neutrophil", - "abnormal blood cell", + "Abnormal granulocyte count", + "eye", + "compound organ", + "zeugopodial skeleton", + "limb long bone", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "abnormal anatomical entity morphology in the pectoral complex", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "abnormal developmental process involved in reproduction", "Functional abnormality of male internal genitalia", - "increased biological_process in independent continuant", - "abnormally decreased number of cell in the independent continuant", + "circulatory system process", + "cavitated compound organ", + "Abnormal leukocyte count", + "manual digit 1 plus metapodial segment", + "abdomen", + "limb endochondral element", "abnormally decreased number of cell", - "cranial skeletal system", - "Hematological neoplasm", - "Aplasia/Hypoplasia of fingers", - "radius endochondral element", - "abnormal immune system morphology", - "leukocyte", - "mesoderm-derived structure", - "abnormal upper urinary tract", - "specifically dependent continuant", - "increased qualitatively biological_process", - "abnormal anatomical entity length", - "abnormal number of anatomical enitites of type cell", - "abnormal digit", - "abnormal number of anatomical enitites of type neutrophil", - "abnormality of anatomical entity physiology", - "Puberty and gonadal disorders", - "Abnormal immune system morphology", - "abnormal nitrogen compound metabolic process", - "abnormal immune system", - "abnormally decreased number of myeloid cell", - "Abnormality of blood circulation", - "excretory system", - "skeleton of limb", - "nervous system", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "protein-containing complex organization", - "abnormal granulocyte morphology", - "Decreased head circumference", - "hematopoietic cell", - "regulation of macromolecule metabolic process", - "continuant", - "aplastic manual digit 1", - "abnormal number of anatomical enitites of type leukocyte", "abnormal myeloid leukocyte morphology", - "abnormal manual digit morphology in the manus", - "Ectopic kidney", - "hemolymphoid system", - "Abnormal heart morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Renal hypoplasia/aplasia", - "abnormal manus morphology", - "cell", - "phenotype by ontology source", - "integument", - "metabolic process", - "abnormal phalanx morphology", - "myeloid cell", - "Neutropenia", - "abnormal skeletal system", - "disconnected anatomical group", - "abnormal number of anatomical enitites of type granulocyte", - "changed developmental process rate", - "neutrophil", - "abnormal cellular response to stress", - "independent continuant", - "abnormal hematopoietic system morphology", - "Aplasia/hypoplasia involving the skeleton", - "Abnormal granulocyte count", - "abnormal hematopoietic cell morphology", - "abnormal limb morphology", + "increased qualitatively biological_process in independent continuant", + "abnormal anatomical entity morphology in the independent continuant", "brain", - "Abnormal external genitalia", - "Abnormal leukocyte count", - "Pallor", - "Renal agenesis", - "Growth abnormality", - "abnormal renal system morphology", - "abnormal brain morphology", - "aplasia or hypoplasia of telencephalon", - "abnormal anatomical entity morphology", - "Abnormality of the immune system", - "Abnormality of the skin", - "3-D shape anatomical entity in independent continuant", - "anatomical system", - "Abnormality of the endocrine system", - "abnormal kidney morphology", - "immaterial anatomical entity", - "Abnormal bleeding", - "blood circulation", - "endochondral element", - "Abnormality of neutrophils", - "structure with developmental contribution from neural crest", - "renal collecting system", - "Abnormality of skin pigmentation", + "abnormal nervous system", + "biological phase", + "autopod bone", + "mesoderm-derived structure", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "gonad", + "multi-tissue structure", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", "abnormally decreased number of granulocyte in the independent continuant", - "simple eye", - "abnormally decreased number of anatomical entity in the independent continuant", - "axial skeleton plus cranial skeleton", - "Abnormal skeletal morphology", - "limb endochondral element", - "anatomical entity", - "abnormality of multicellular organism mass", - "eukaryotic cell", - "appendage", - "U-shaped kidney", - "material anatomical entity", - "abnormal blood cell morphology", - "material entity", - "limb long bone", - "abnormally decreased number of myeloid cell in the independent continuant", + "Abnormal skull morphology", + "abnormal craniocervical region morphology", + "immaterial entity", + "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", + "Abnormality of body weight", + "aplasia or hypoplasia of telencephalon", + "limb skeleton subdivision", + "skull", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "absent sperm in the semen", + "bone of pectoral complex", + "decreased length of anatomical entity", + "autopod endochondral element", + "Abnormality of limb bone", + "central nervous system", + "regional part of brain", + "craniocervical region", + "Abnormality of head or neck", + "abnormal kidney", + "abnormal reproductive system", + "abnormal head morphology", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "spermatogenesis", + "abnormal telencephalon morphology", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "manual digit 1 phalanx endochondral element", + "tissue", + "absent anatomical entity in the semen", + "Abnormality of brain morphology", + "nervous system", + "forelimb zeugopod bone", "kinesthetic behavior", - "abnormal number of anatomical enitites of type myeloid cell", - "multicellular organism", + "Eumetazoa", + "negative regulation of cellular metabolic process", + "Eukaryota", + "decreased length of manual digit", + "abnormal forebrain morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "telencephalon", + "Growth abnormality", + "axial skeletal system", + "abnormal skull morphology", + "reproductive organ", + "abnormal number of anatomical enitites of type reticulocyte", + "decreased developmental process", + "postcranial axial skeleton", + "Abnormal renal collecting system morphology", + "decreased qualitatively developmental process", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "changed biological_process rate in independent continuant", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "Decreased head circumference", + "abnormal size of anatomical entity", + "Abnormality of thrombocytes", + "Abnormal renal morphology", + "abnormal external genitalia", + "Abnormal axial skeleton morphology", + "non-material anatomical boundary", + "erythroid lineage cell", + "Abnormal reproductive system morphology", + "abnormal cardiovascular system", + "thoracic segment organ", + "Abnormal finger morphology", + "Abnormal erythrocyte morphology", + "circulatory organ", + "heart plus pericardium", + "Cryptorchidism", + "Abnormality of cardiovascular system morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "abnormal heart morphology", + "abnormal integument", + "Cafe-au-lait spot", + "abnormally decreased number of anatomical entity in the independent continuant", + "abnormal anatomical entity morphology", + "increased pigmentation", + "Neutropenia", + "reproductive structure", + "changed biological_process rate", + "increased biological_process in skin of body", + "absent germ cell", + "decreased size of the anatomical entity", + "abnormal biological_process in independent continuant", + "Neurodevelopmental delay", + "abnormal skin of body", + "Abnormality of the integument", + "Abnormality of bone marrow cell morphology", + "Growth delay", "kidney", + "abnormal biological_process", + "Abnormality of skin morphology", + "integumental system", + "integument", + "absent radius bone in the forelimb", + "increased biological_process in independent continuant", + "abnormal skin of body morphology", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "primary metabolic process", + "forelimb endochondral element", + "Abnormality of the skin", + "germ line cell", + "abnormal pigmentation in independent continuant", + "Abnormal forearm bone morphology", + "increased pigmentation in independent continuant", + "organic substance metabolic process", + "Abnormality of the head", + "heart", + "abnormal pigmentation", + "Abnormal heart morphology", + "abnormality of reproductive system physiology", + "limb segment", + "absent sperm", + "Abnormality of the genital system", + "Abnormality of reproductive system physiology", + "gamete", + "Abnormality of the endocrine system", + "abnormal endocrine system", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "Puberty and gonadal disorders", + "glandular system", + "male gamete", + "abnormally decreased functionality of the gonad", + "absent kidney", + "subdivision of skeletal system", + "abnormally decreased number of neutrophil", + "absent kidney in the independent continuant", + "oxygen accumulating cell", + "abnormal erythrocyte morphology", + "manus bone", + "radius bone", + "Abnormality of the hand", + "Anemia", + "abnormal shape of continuant", + "trunk", + "abnormal bone marrow cell", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "abnormal cellular process", + "secretory cell", + "decreased size of the anatomical entity in the independent continuant", + "anucleate cell", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "Prolonged G2 phase of cell cycle", + "pectoral appendage skeleton", + "abnormal blood cell morphology", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "abnormal brain morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal programmed DNA elimination by chromosome breakage", + "specifically dependent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + "cellular organisms", + "Abnormal neutrophil count", + "obsolete multicellular organism reproduction", + "digit 1", + "abnormal platelet morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "Abnormality of globe size", + "abnormally decreased number of platelet", + "Abnormal platelet count", + "sensory perception", + "abnormal developmental process", + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "organelle organization", + "postcranial axial skeletal system", + "abnormal spermatogenesis", + "germ cell", + "abnormal internal genitalia", + "abnormal cell", + "disconnected anatomical group", + "male reproductive organ", + "internal genitalia", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "abnormal external male genitalia", + "haploid cell", + "abnormal gamete", "Reticulocytopenia", - "Opisthokonta", - "Abnormal myeloid leukocyte morphology", - "abnormal phenotype by ontology source", - "abnormal location of anatomical entity", - "abnormal myeloid cell morphology", - "cognition", - "manus", + "abnormal testis morphology", + "forelimb zeugopod", + "interphase", + "semen", + "organism substance", + "Abnormal external genitalia", + "platelet", + "absent sperm in the independent continuant", + "male germ cell", + "abnormal granulocyte morphology", + "Azoospermia", + "male reproductive system", + "abnormal number of anatomical enitites of type sperm", + "manual digit", + "abnormal multicellular organismal reproductive process", + "anatomical entity", + "decreased qualitatively biological_process", + "testis", + "external male genitalia", + "regulation of macromolecule metabolic process", + "abnormal reproductive process", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", "male organism", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal forebrain morphology", - "Abnormal cell morphology", - "abnormally decreased number of leukocyte in the independent continuant", - ], - }, - { - "id": "MONDO:0001083", - "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome", - "xref": [ - "DOID:1062", - "GARD:9120", - "MESH:D005198", - "NANDO:2100027", - "NANDO:2200187", - "NCIT:C3034", - "SCTID:40488004", - "UMLS:C0015624", - ], - "provided_by": "phenio_nodes", - "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.", - "synonym": [ - "De toni-Fanconi syndrome", - "De toni-debre-Fanconi syndrome", - "Fanconi syndrome", - "Fanconi's syndrome", - "Fanconi-de toni syndrome", - "Fanconi-de-toni syndrome", + "sperm", + "absent gamete", + "developmental process involved in reproduction", + "Abnormality of male external genitalia", + "abnormal male reproductive system morphology", + "Abnormal testis morphology", + "absent anatomical entity in the independent continuant", + "abnormally localised testis", + "reproductive process", + "shape kidney", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "developmental process", + "abnormal manual digit morphology in the manus", + "Abnormal internal genitalia", + "forelimb zeugopod skeleton", + "Aplasia involving bones of the upper limbs", + "eukaryotic cell", + "abnormal limb long bone morphology", + "absent forelimb zeugopod bone", + "Pallor", + "abnormal bone of pectoral complex morphology", + "absent radius bone", + "abnormal behavior", + "radius endochondral element", + "abnormal radius bone morphology", + "Absent radius", + "aplastic forelimb zeugopod bone", + "abnormal size of skull", + "forelimb long bone", + "sensory perception of mechanical stimulus", + "abnormally decreased number of anatomical entity", + "skin of body", + "Abnormal upper limb bone morphology", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "3-D shape anatomical entity in independent continuant", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "Abnormal reticulocyte morphology", + "decreased length of anatomical entity in independent continuant", + "manual digitopodium region", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "decreased length of digit", + "Short finger", + "skeleton of digitopodium", + "Short digit", + "anterior region of body", + "decreased length of manual digit 1", + ], + }, + { + "id": "MONDO:0001083", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome", + "xref": [ + "DOID:1062", + "GARD:9120", + "MESH:D005198", + "NANDO:2100027", + "NANDO:2200187", + "NCIT:C3034", + "SCTID:40488004", + "UMLS:C0015624", + ], + "provided_by": "phenio_nodes", + "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.", + "synonym": [ + "De toni-Fanconi syndrome", + "De toni-debre-Fanconi syndrome", + "Fanconi syndrome", + "Fanconi's syndrome", + "Fanconi-de toni syndrome", + "Fanconi-de-toni syndrome", "Lignac-Fanconi syndrome", "adult Fanconi syndrome", "congenital Fanconi syndrome", @@ -5309,40 +5309,46 @@ def autocomplete_response(): ], "namespace": "MONDO", "has_phenotype": [ - "HP:0002863", + "HP:0010469", + "HP:0000377", "HP:0002575", "HP:0000483", + "HP:0000238", "HP:0001249", "HP:0100587", + "HP:0100026", "HP:0040071", + "HP:0012639", + "HP:0008053", "HP:0006824", "HP:0005344", "HP:0002414", - "HP:0001199", + "HP:0002245", + "HP:0002023", + "HP:0001824", + "HP:0001646", + "HP:0000582", "HP:0000518", "HP:0000508", - "HP:0000010", + "HP:0000453", + "HP:0000047", + "HP:0007874", + "HP:0002650", "HP:0000252", - "HP:0001000", - "HP:0010469", - "HP:0000377", + "HP:0001882", + "HP:0002863", "HP:0002119", + "HP:0001510", "HP:0001392", "HP:0000864", "HP:0000316", - "HP:0000238", "HP:0000027", - "HP:0001562", - "HP:0001510", "HP:0100867", "HP:0100760", "HP:0100542", - "HP:0100026", - "HP:0012639", "HP:0012041", "HP:0010293", "HP:0008678", - "HP:0008053", "HP:0007565", "HP:0006265", "HP:0006101", @@ -5352,25 +5358,22 @@ def autocomplete_response(): "HP:0002827", "HP:0002823", "HP:0002251", - "HP:0002245", - "HP:0002023", "HP:0002007", - "HP:0001824", "HP:0001770", "HP:0001763", "HP:0001760", "HP:0001679", - "HP:0001646", "HP:0001643", "HP:0001639", "HP:0001636", "HP:0001631", + "HP:0001562", "HP:0001537", "HP:0001511", "HP:0001347", + "HP:0001199", "HP:0000813", "HP:0000639", - "HP:0000582", "HP:0000568", "HP:0000520", "HP:0000505", @@ -5378,7 +5381,6 @@ def autocomplete_response(): "HP:0000492", "HP:0000486", "HP:0000478", - "HP:0000453", "HP:0000365", "HP:0000364", "HP:0000347", @@ -5392,14 +5394,12 @@ def autocomplete_response(): "HP:0000130", "HP:0000083", "HP:0000072", - "HP:0000047", "HP:0000035", "HP:0000028", + "HP:0000010", "HP:0012745", "HP:0012210", - "HP:0007874", "HP:0002664", - "HP:0002650", "HP:0001671", "HP:0001263", "HP:0000079", @@ -5410,47 +5410,53 @@ def autocomplete_response(): "HP:0003220", "HP:0002817", "HP:0001903", - "HP:0001882", "HP:0001873", "HP:0001871", "HP:0001172", "HP:0001053", + "HP:0001000", ], "has_phenotype_label": [ - "Myelodysplasia", + "Absent testis", + "Abnormal pinna morphology", "Tracheoesophageal fistula", "Astigmatism", + "Hydrocephalus", "Intellectual disability", "Abnormal preputium morphology", + "Arteriovenous malformation", "Abnormal morphology of ulna", + "Abnormal nervous system morphology", + "Aplasia/Hypoplasia of the iris", "Cranial nerve paralysis", "Abnormal carotid artery morphology", "Spina bifida", - "Triphalangeal thumb", + "Meckel diverticulum", + "Anal atresia", + "Weight loss", + "Abnormal aortic valve morphology", + "Upslanted palpebral fissure", "Cataract", "Ptosis", - "Recurrent urinary tract infections", + "Choanal atresia", + "Hypospadias", + "Almond-shaped palpebral fissure", + "Scoliosis", "Microcephaly", - "Abnormality of skin pigmentation", - "Absent testis", - "Abnormal pinna morphology", + "Leukopenia", + "Myelodysplasia", "Ventriculomegaly", + "Growth delay", "Abnormality of the liver", "Abnormality of the hypothalamus-pituitary axis", "Hypertelorism", - "Hydrocephalus", "Azoospermia", - "Oligohydramnios", - "Growth delay", "Duodenal stenosis", "Clubbing of toes", "Abnormal localization of kidney", - "Arteriovenous malformation", - "Abnormal nervous system morphology", "Decreased fertility in males", "Aplasia/Hypoplasia of the uvula", "Renal hypoplasia/aplasia", - "Aplasia/Hypoplasia of the iris", "Multiple cafe-au-lait spots", "Aplasia/Hypoplasia of fingers", "Finger syndactyly", @@ -5460,25 +5466,22 @@ def autocomplete_response(): "Hip dislocation", "Abnormality of femur morphology", "Aganglionic megacolon", - "Meckel diverticulum", - "Anal atresia", "Frontal bossing", - "Weight loss", "Toe syndactyly", "Pes planus", "Abnormal foot morphology", "Abnormal aortic morphology", - "Abnormal aortic valve morphology", "Patent ductus arteriosus", "Hypertrophic cardiomyopathy", "Tetralogy of Fallot", "Atrial septal defect", + "Oligohydramnios", "Umbilical hernia", "Intrauterine growth retardation", "Hyperreflexia", + "Triphalangeal thumb", "Bicornuate uterus", "Nystagmus", - "Upslanted palpebral fissure", "Microphthalmia", "Proptosis", "Visual impairment", @@ -5486,7 +5489,6 @@ def autocomplete_response(): "Abnormal eyelid morphology", "Strabismus", "Abnormality of the eye", - "Choanal atresia", "Hearing impairment", "Hearing abnormality", "Micrognathia", @@ -5500,14 +5502,12 @@ def autocomplete_response(): "Abnormality of the uterus", "Renal insufficiency", "Hydroureter", - "Hypospadias", "Abnormal testis morphology", "Cryptorchidism", + "Recurrent urinary tract infections", "Short palpebral fissure", "Abnormal renal morphology", - "Almond-shaped palpebral fissure", "Neoplasm", - "Scoliosis", "Abnormal cardiac septum morphology", "Global developmental delay", "Abnormality of the urinary system", @@ -5518,5790 +5518,5790 @@ def autocomplete_response(): "Abnormality of chromosome stability", "Abnormality of the upper limb", "Anemia", - "Leukopenia", "Thrombocytopenia", "Abnormality of blood and blood-forming tissues", "Abnormal thumb morphology", "Hypopigmented skin patches", + "Abnormality of skin pigmentation", ], "has_phenotype_count": 106, "has_phenotype_closure": [ - "UPHENO:0077872", - "UPHENO:0077874", - "HP:0001053", "HP:0001010", "UPHENO:0085070", - "CL:0000225", - "UPHENO:0084987", + "CL:0000458", + "HP:0001873", + "UPHENO:0085344", "UPHENO:0085189", - "HP:0001872", - "UPHENO:0086005", - "HP:0011873", + "UPHENO:0084987", + "UPHENO:0086049", + "HP:0011875", "CL:0000233", - "UPHENO:0088337", - "UBERON:0000178", - "CL:0002242", - "UPHENO:0088338", - "HP:0032251", - "UPHENO:0063722", - "UPHENO:0035147", - 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"UPHENO:0086644", + "UPHENO:0076804", + "UPHENO:0046505", + "UPHENO:0077889", + "UBERON:0000161", + "UPHENO:0086824", + "UPHENO:0074228", + "UBERON:0001245", + "UPHENO:0076760", + "UPHENO:0084448", + "UPHENO:0021304", "HP:0010293", - "HP:0002086", - "UBERON:0000467", - "UBERON:0007832", - "HP:0010469", - "UBERON:0000468", - "UBERON:0034713", - "HP:0011446", - "UBERON:0002217", - "HP:0100587", + "UBERON:0013702", + "HP:0002023", + "UBERON:0002355", + "UPHENO:0087509", + "HP:0006265", + "UPHENO:0054261", + "UPHENO:0054299", + "UPHENO:0041203", + "HP:0004325", + "HP:0040194", + "UPHENO:0031839", + "UPHENO:0033559", + "UPHENO:0082794", "HP:0001507", - "UBERON:0001333", - "UPHENO:0088186", - "UPHENO:0080352", - "UBERON:0000025", - "HP:0002664", - "UBERON:0003513", - "UBERON:0000915", + "UBERON:0010543", + "UPHENO:0049874", + "HP:0000174", + "UBERON:0003978", "HP:0001159", - "UBERON:0009569", - "UPHENO:0012541", - "UBERON:0003133", - "UBERON:0003221", - "UPHENO:0076803", - "UBERON:0003037", - "UPHENO:0075945", - "UPHENO:0081584", - "PATO:0000001", - "HP:0002863", - "UPHENO:0076692", - "UBERON:0005181", - "UBERON:0001456", + "UBERON:0005725", + "UPHENO:0086858", + "UBERON:0001555", + "UPHENO:0015317", + "UBERON:0005623", + "UPHENO:0087612", + "UBERON:0004288", + "HP:0009815", + "UPHENO:0015324", + "HP:0001770", + "UPHENO:0086143", + "UBERON:0002389", + "HP:0001654", + "UPHENO:0002839", + "UPHENO:0086614", + "UBERON:0000915", + "HP:0034915", + "UPHENO:0003070", + "UPHENO:0050008", + "UBERON:0002090", + "HP:0006496", + "UBERON:0005956", + "UBERON:0000946", + "CL:0000988", + "UPHENO:0081436", + "UBERON:0002529", + "UBERON:0004381", + "UPHENO:0076810", + "HP:0000069", + "UPHENO:0087070", + "UBERON:0002097", + "UPHENO:0015319", + "UPHENO:0082900", + "UBERON:0000948", + "UBERON:0002084", + "UPHENO:0015327", + "UBERON:0019221", + "HP:0000492", + "UPHENO:0080382", + "HP:0200006", + "UBERON:0001474", + "UPHENO:0063722", + "UBERON:0000117", + "UBERON:0034921", + "UPHENO:0003085", + "GO:0030154", + "UBERON:0004573", + "UBERON:0015052", + "HP:0032039", + "HP:0030669", + "UBERON:0010912", + "UPHENO:0086144", + "UPHENO:0021791", + "UBERON:0000179", + "UBERON:0000014", + "UPHENO:0086680", + "UPHENO:0076761", + "HP:0000518", + "HP:0001924", + "UPHENO:0018424", + "UBERON:0000965", + "UPHENO:0087578", + "UBERON:0005389", + "HP:0000508", + "GO:0048468", + "UPHENO:0087214", + "GO:0060562", + "UPHENO:0041644", + "UPHENO:0041667", + "UPHENO:0086699", + "UBERON:0010913", + "UBERON:0005726", + "UPHENO:0086628", + "UPHENO:0021517", + "UPHENO:0063621", + "HP:0010978", + "UPHENO:0086100", + "UPHENO:0003048", + "HP:0005105", + "HP:0011994", + "UPHENO:0002907", + "UPHENO:0084447", + "HP:0100790", + "HP:0010935", + "UBERON:0002268", + "UPHENO:0085330", + "UBERON:0003129", + "UPHENO:0002642", + "UBERON:0010740", + "UBERON:0000004", + "UPHENO:0063595", + "HP:0000929", + "UBERON:0010323", "UPHENO:0087814", - "UPHENO:0082875", - "UPHENO:0080221", - "UPHENO:0001002", - "GO:0001838", - "UPHENO:0010795", - "GO:0050890", - "NBO:0000313", - "UPHENO:0041041", - "UPHENO:0082356", - "UPHENO:0046538", - "HP:0002060", - "HP:0000483", + "UBERON:0007832", + "HP:0000415", + "HP:0100547", + "HP:0000144", + "UPHENO:0075852", + "HP:0000080", + "UBERON:0001008", + "UBERON:0012241", + "UPHENO:0002790", + "UBERON:5101466", + "HP:0032076", + "UBERON:0001556", + "UBERON:0000947", + "HP:0001574", + "HP:0010936", + "UBERON:8450002", + "HP:0000079", + "HP:0010438", + "HP:0000118", + "UPHENO:0005995", + "UPHENO:0020068", "UBERON:0007830", - "UPHENO:0041644", - "NCBITaxon:131567", - "UBERON:0007823", - "UPHENO:0002219", - "HP:0000795", - "UPHENO:0005433", - "UPHENO:0005518", - "UPHENO:0087816", - "UPHENO:0086122", - "UPHENO:0015290", - "UBERON:0002082", - "UBERON:0001890", - "UPHENO:0088115", - "HP:0003330", - "UPHENO:0088185", - "UPHENO:0087334", - "UBERON:0013765", - "UBERON:0010191", - "UBERON:0004119", - "UBERON:0001460", - "UBERON:0000466", - "UBERON:0000033", - "UBERON:0005440", - "CL:0000039", - "HP:0006101", - "UPHENO:0084816", - "CL:0000408", - "UBERON:0006555", - "BFO:0000001", - "GO:0016331", - "CL:0000232", - "HP:0002623", - "UPHENO:0004508", - ], - "has_phenotype_closure_label": [ - "decreased biological_process in skin of body", - "decreased biological_process in independent continuant", - "abnormal platelet morphology", - "Abnormal platelet morphology", - "abnormally decreased number of myeloid cell", - "serotonin secreting cell", - "Thrombocytopenia", - "abnormally decreased number of platelet", - "blood", - "abnormally decreased number of cell in the independent continuant", - "haemolymphatic fluid", - "abnormally decreased number of leukocyte in the blood", - "motile cell", - "Leukopenia", - "Abnormal immune system morphology", - "Abnormal cellular immune system morphology", - "Abnormal leukocyte morphology", - "abnormally decreased number of anatomical entity", - "Abnormal leukocyte count", - "abnormal number of anatomical enitites of type leukocyte", - "metabolic process", - "Abnormal cellular physiology", - "decreased size of the multicellular organism", - "Short stature", - "decreased height of the multicellular organism", - "myeloid cell", - "myeloid cell homeostasis", - "oxygen accumulating cell", - "hematopoietic cell", - "cell differentiation", - "cell development", - "Pyridoxine-responsive sideroblastic anemia", - "myeloid cell differentiation", - "Anemia", - "abnormal erythroid lineage cell morphology", - "abnormal hematopoietic cell morphology", - "anucleate cell", - "Abnormal erythrocyte morphology", - "Aplasia/Hypoplasia of the radius", - "radius bone", - "Almond-shaped palpebral fissure", - "Abnormal shape of the palpebral fissure", - "abnormal size of palpebral fissure", - "Short palpebral fissure", - "abnormally localised testis", - "abnormally localised anatomical entity", - "Abnormality of the lower urinary tract", - "lower urinary tract", - "renal pelvis/ureter", - "abnormal ureter morphology", - "Abnormality of the ureter", - "ureter", - "Abnormal ureter morphology", - "aplasia or hypoplasia of radius bone", - "Abnormal renal physiology", - "Renal insufficiency", - "non-functional anatomical entity", - "Puberty and gonadal disorders", - "abnormal incomplete closing of the secondary palate", - "High palate", - "increased height of the secondary palate", - "increased size of the head", - "skin of head", - "Epicanthus", - "abnormal skin of face morphology", - "increased length of the epicanthal fold", - "head or neck skin", - "epicanthal fold", - "abnormal skin of head morphology", - "Facial asymmetry", - "sloped anatomical entity", - "abnormal shape of forehead", - "sloped forehead", - "abnormal facial skeleton morphology", - "abnormal shape of palpebral fissure", - "Aplasia/Hypoplasia of the mandible", - "abnormal jaw skeleton morphology", - "abnormal mandible morphology", - "homeostatic process", - "Abnormal mandible morphology", - "Abnormal jaw morphology", - "anatomical entity hypoplasia in face", - "jaw skeleton", - "Dolichocephaly", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "facial bone hypoplasia", - "aplasia or hypoplasia of mandible", - "dentary", - "mandible hypoplasia", - "bone of lower jaw", - "abnormal immune system morphology", - "decreased size of the mandible", - "Aplasia/Hypoplasia of facial bones", - "abnormal asymmetry of anatomical entity", - "decreased sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal radius bone morphology", - "Hearing abnormality", - "chemosensory system", - "abnormal nose morphology", - "abnormal asymmetry of face", - "internal naris atresia", - "abnormal number of anatomical enitites of type hematopoietic cell", - "naris", - "olfactory organ", - "abnormal nose", - "olfactory system", - "Abnormal nasal morphology", - "abnormal posterior nasal aperture morphology", - "Abnormality of the choanae", - "abnormal lower urinary tract", - "posterior nasal aperture atresia", - "Strabismus", - "Abnormality of vision", - "Hypopigmentation of the skin", - "sensory perception", - "visual perception", - "Visual impairment", - "abnormal urethra", - "abnormal sensory perception", - "sensory perception of light stimulus", - "decreased qualitatively visual perception", - "Proptosis", - "abnormal size of eyeball of camera-type eye", - "Microphthalmia", - "Abnormality of globe size", - "Abnormality of the palpebral fissures", - "Slanting of the palpebral fissure", - "abnormality of internal ear physiology", - "vestibulo-ocular reflex", - "Nystagmus", - "physiologic nystagmus", - "eye movement", - "abnormal eye movement", - "Functional abnormality of the inner ear", - "abnormal internal ear", - "abnormality of ear physiology", - "internal ear", - "female reproductive system", - "abnormal internal female genitalia morphology", - "Abnormality of metabolism/homeostasis", - "abnormal female reproductive organ morphology", - "shape uterus", - "Abnormality of the uterus", - "decreased qualitatively sensory perception of sound", - "subdivision of oviduct", - "bicornuate uterus", - "abnormal female reproductive system morphology", - "abnormal uterus", - "Bicornuate uterus", - "sensory perception of sound", - "female reproductive organ", - "uterus", - "female organism", - "skin of eyelid", - "bicornuate anatomical entity", - "internal female genitalia", - "decreased qualitatively pigmentation in independent continuant", - "abnormal behavior", - "neuromuscular process", - "voluntary musculoskeletal movement", - "abnormal response to external stimulus", - "response to external stimulus", - "Abnormal reflex", - "Abnormality of movement", - "voluntary movement behavior", - "body part movement", - "behavior process", - "reflex", - "abnormal voluntary movement behavior", - "decreased qualitatively biological_process in independent continuant", - "abnormal behavior process", - "decreased embryo development", - "Hypogonadism", - "abnormal umbilicus morphology", - "Abnormal umbilicus morphology", - "biogenic amine secreting cell", - "changed embryo development rate", - "abdominal wall", - "Hernia", - "connective tissue", - "abnormal incomplete closing of the abdominal wall", - "herniated anatomical entity", - "abnormal voluntary musculoskeletal movement", - "Abnormality of the abdominal wall", - "abnormal cardiac atrium morphology", - "cardiac atrium", - "abnormal cardiac atrium morphology in the independent continuant", - "interatrial septum", - "abnormal interatrial septum morphology", - "eukaryotic cell", - "Abnormal cardiac atrium morphology", - "Atrial septal defect", - "abnormally increased volume of anatomical entity", - "abnormal internal naris", - "hypertrophic cardiac ventricle", - "Overriding aorta", - "erythrocyte differentiation", - "Abdominal wall defect", - "Pulmonic stenosis", - "abnormal pulmonary valve morphology", - "aplasia or hypoplasia of skull", - "Abnormal cardiac septum morphology", - "Abnormal right ventricle morphology", - "cardiac septum", - "Abnormal facial skeleton morphology", - "right cardiac chamber", - "abnormal size of heart right ventricle", - "Abnormal ventriculoarterial connection", - "Abnormal ventricular septum morphology", - "abnormal cardiac septum morphology", - "Abnormal connection of the cardiac segments", - "Ventricular hypertrophy", - "hypertrophic heart right ventricle", - "abnormally decreased functionality of the anatomical entity", - "abnormally decreased number of leukocyte in the independent continuant", - "myocardium", - "abnormal myocardium morphology", - "abnormally decreased functionality of the myocardium", - "anatomical entity dysfunction in independent continuant", - "abnormal sensory perception of sound", - "Abnormal myocardium morphology", - "Patent ductus arteriosus", - "Abnormal male urethral meatus morphology", - "vasculature of trunk", - "heart blood vessel", - "embryonic cardiovascular system", - "Abnormal conjugate eye movement", - "Congenital malformation of the great arteries", - "conceptus", - "abnormal coronary vessel morphology", - "abnormal artery morphology in the independent continuant", - "abnormal incomplete closing of the ductus arteriosus", - "abnormal ductus arteriosus morphology", - "outflow tract", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal cardiac ventricle morphology in the heart", - "lower jaw region", - "abnormal uterus morphology", - "valve", - "semi-lunar valve", - "cardiac ventricle", - "outflow tract of ventricle", - "abnormal cardiac valve morphology in the heart", - "abnormal heart left ventricle morphology", - "glans", - "abnormal cardiac ventricle morphology", - "Abnormal aortic valve morphology", - "abnormal cardiac valve morphology in the independent continuant", - "outflow part of left ventricle", - "abnormal cardiac valve morphology", - "primary circulatory organ", - "Abnormal heart valve morphology", - "abnormal embryo development", - "abnormal abdominal wall", - "Abnormal cardiac ventricle morphology", - "thoracic cavity blood vessel", - "abnormal aorta morphology", - "Abnormal morphology of the great vessels", - "cellular developmental process", - "Abnormal aortic morphology", - "aortic system", - "flat anatomical entity in independent continuant", - "Increased head circumference", - "flat longitudinal arch of pes", - "flattened anatomical entity", - "flat anatomical entity", - "Pes planus", - "abnormally fused pedal digit and pedal digit", - "decreased multicellular organism mass", - "Weight loss", - "abnormality of anatomical entity mass", - "abnormality of multicellular organism mass", - "Decreased body weight", - "Decreased multicellular organism mass", - "decreased anatomical entity mass", - "frontal cortex", - "abnormal cerebral cortex morphology", - "prominent anatomical entity", - "cerebral hemisphere gray matter", - "forehead", - "prominent forehead", - "abnormally localised anatomical entity in independent continuant", - "Hypospadias", - "abnormal cranium morphology", - "abnormal shape of frontal cortex", - "cortex of cerebral lobe", - "abnormal neocortex morphology", - "dermal skeleton", - "primary subdivision of cranial skeletal system", - "cranium", - "central nervous system gray matter layer", - "dermal bone", - "non-functional kidney", - "pallium", - "Abnormal uterus morphology", - "central nervous system cell part cluster", - "dermal skeletal element", - "lobe of cerebral hemisphere", - "Abnormality of the forehead", - "cerebral hemisphere", - "great vessel of heart", - "Abnormal shape of the frontal region", - "Hypopigmented skin patches", - "neurocranium", - "dermatocranium", - "cranial bone", - "secretory cell", - "bone of craniocervical region", - "abnormal frontal cortex morphology", - "abnormal neurocranium morphology", - "heart layer", - "intramembranous bone", - "membrane bone", - "abnormal tetrapod frontal bone morphology", - "abnormal forehead", - "abnormal anus", - "Anal atresia", - "anus atresia", - "heart plus pericardium", - "Abnormality of the anus", - "Abnormal ileum morphology", - "abnormal ileum morphology", - "ganglion of peripheral nervous system", - "decreased pigmentation in independent continuant", - "neocortex", - "parasympathetic ganglion", - "decreased length of palpebral fissure", - "abnormal parasympathetic ganglion morphology", - "abnormal enteric ganglion morphology", - "involuntary movement behavior", - "abnormal enteric nervous system morphology", - "abnormal parasympathetic nervous system morphology", - "decreased height of the anatomical entity", - "Abnormality of the autonomic nervous system", - "abnormal autonomic nervous system", - "platelet", - "enteric ganglion", - "autonomic nervous system", - "abnormal ganglion of peripheral nervous system morphology", - "nucleate cell", - "Scoliosis", - "Abnormal peripheral nervous system ganglion morphology", - "abnormal autonomic nervous system morphology", - "Abnormality of femur morphology", - "hindlimb stylopod", - "abnormal hindlimb stylopod morphology", - "abnormal femur morphology", - "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "bone of hip region", - "pelvic girdle skeleton", - "articulation", - "Abnormality of the nose", - "orifice", - "zone of organ", - "Abnormal hip bone morphology", - "trunk bone", - "sensory perception of mechanical stimulus", - "hip", - "appendage girdle region", - "excretory tube", - "hip joint", - "zone of bone organ", - "girdle skeleton", - "Abnormality of lower limb joint", - "anatomical entity dislocation", - "girdle bone/zone", - "hip dislocation", - "Abnormal hip joint morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "skeletal joint", - "abnormal hindlimb joint", - "synovial joint", - "pelvic region element", - "pelvic region of trunk", - "abnormal skeletal joint morphology", - "abnormal joint of girdle morphology", - "Right ventricular hypertrophy", - "abnormal hip joint morphology", - "abnormal synovial joint of pelvic girdle morphology", - "Forearm undergrowth", - "decreased size of the anatomical entity in the independent continuant", - "heart", - "Aplasia/Hypoplasia of the ulna", - "decreased length of forelimb zeugopod bone", - "decreased length of anatomical entity", - "Abnormality of the urethra", - "forelimb zeugopod bone hypoplasia", - "ulna hypoplasia", - "decreased length of anatomical entity in independent continuant", - "interventricular septum", - "Upper limb undergrowth", - "decreased size of the anatomical entity", - "decreased length of long bone", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Lower extremity joint dislocation", - "Limb undergrowth", - "decreased size of the ulna", - "Hypoplasia of the ulna", - "aplasia or hypoplasia of ulna", - "bone element hypoplasia in independent continuant", - "vault of skull", - "abnormal spatial pattern of anatomical entity", - "aorta", - "manual digit 5", - "abnormality of kidney physiology", - "Hyperreflexia", - "anatomical entity atresia", - "enteric nervous system", - "Abnormal 5th finger morphology", - "Deviation of finger", - "Clinodactyly of the 5th finger", - "Deviation of the 5th finger", - "deviation of manual digit 5 towards the middle", - "Finger clinodactyly", - "deviation of anatomical entity towards the middle", - "deviation of anatomical entity", - "Decreased bone element mass density", - "Decreased anatomical entity mass density", - "ossification", - "Abnormality of bone mineral density", - "Syndactyly", - "Finger syndactyly", - "abnormally fused manual digit and manual digit", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "Aplasia/hypoplasia involving the skeleton", - "Aplasia/hypoplasia involving bones of the upper limbs", - "anatomical entity hypoplasia", - "Aplasia/hypoplasia involving bones of the hand", - "Aplasia/Hypoplasia of fingers", - "aplasia or hypoplasia of skeleton", - "Hypermelanotic macule", - "increased pigmentation in skin of body", - "increased pigmentation in independent continuant", - "increased qualitatively biological_process in independent continuant", - "Cafe-au-lait spot", - "deviation of manual digit 5", - "increased qualitatively biological_process", - "abnormally formed anatomical entity", - "Abnormal uvea morphology", - "abnormal iris morphology", - "Aplasia/Hypoplasia affecting the eye", - "joint of girdle", - "abnormal uvea morphology", - "anterior chamber of eyeball", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "chamber of eyeball", - "abnormal number of anatomical enitites of type platelet", - "uvea", - "Abnormal anterior chamber morphology", - "Abnormality iris morphology", - "Ocular anterior segment dysgenesis", - "abnormally formed anterior chamber of eyeball", - "iris", - "Renal hypoplasia/aplasia", - "zone of skin", - "abnormal palatine uvula morphology", - "Abnormal uvula morphology", - "midface", - "Abnormal oral cavity morphology", - "secondary palate", - "soft palate", - "anatomical cavity", - "Aplasia/Hypoplasia of the uvula", - "abnormal response to stimulus", - "morphological feature", - "abnormal blood cell", - "ganglion", - "abnormal pigmentation in independent continuant", - "abnormal anterior chamber of eyeball morphology", - "abnormal mouth", - "Abnormal soft palate morphology", - "abnormal size of multicellular organism", - "Abnormality of the abdominal organs", - "abnormal mouth morphology", - "Abnormality of the inner ear", - "abnormal vein morphology", - "Abnormal venous morphology", - "Cleft palate", - "abnormal anatomical entity morphology in the pelvic complex", - "Abnormality of the upper urinary tract", - "abnormal physiologic nystagmus", - "skeleton of pelvic complex", - "respiratory airway", - "kidney", - "oviduct", - "Abnormal localization of kidney", - "Sloping forehead", - "anterior uvea", - "abnormal kidney morphology", - "Abnormality of the cardiovascular system", - "hindlimb", - "Clubbing of toes", - "Orofacial cleft", - "Abnormal toe morphology", - "leukocyte", - "clavate anatomical entity", - "abnormal bone of pelvic complex morphology", - "abnormal skin of body", - "concave 3-D shape anatomical entity", - "posterior region of body", - "abnormal embryo morphology", - "abnormal upper urinary tract", - "Abnormal autonomic nervous system morphology", - "Abnormal midface morphology", - "abnormal pedal digit morphology", - "abdominal segment bone", - "3-D shape anatomical entity", - "longitudinal arch of pes", - "pedal digitopodium region", - "Cryptorchidism", - "synovial joint of pelvic girdle", - "pes", - "sensory system", - "pedal digit bone", - "Abnormal lower limb bone morphology", - "anatomical system", - "pedal digitopodium bone", - "primary subdivision of skull", - "Aplasia/Hypoplasia of the iris", - "pedal digit phalanx endochondral element", - "Irregular hyperpigmentation", - "hindlimb bone", - "hindlimb long bone", - "Global developmental delay", - "decreased size of the anatomical entity in the pectoral complex", - "leg", - "small intestine", - "Small intestinal stenosis", - "anatomical space", - "intestine", - "internal genitalia", - "pes bone", - "duodenum", - "Abnormal intestine morphology", - "frontal lobe", - "abnormal biological_process in independent continuant", - "ventricle of nervous system", - "pedal digit plus metapodial segment", - "Clinodactyly", - "growth", - "abnormal skull morphology", - "abnormal renal system morphology", - "hindlimb skeleton", - "Growth abnormality", - "delayed growth", - "Abnormal cardiovascular system physiology", - "hindlimb joint", - "cavitated compound organ", - "abnormal late embryo", - "abnormal ocular surface region morphology", - "abnormal hindlimb morphology", - "amniotic fluid", - "Abnormality of the amniotic fluid", - "Arteriovenous malformation", - "abnormal anus morphology", - "Abnormality of prenatal development or birth", - "shape forehead", - "abnormal soft palate morphology", - "Oligohydramnios", - "abnormally protruding eyeball of camera-type eye", - "cerebrospinal fluid", - "Aplasia/Hypoplasia affecting the uvea", - "Abnormal cerebrospinal fluid morphology", - "Abnormal erythroid lineage cell morphology", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "abnormal trachea morphology", - "upper digestive tract", - "abnormal cerebrospinal fluid morphology", - "immaterial entity", - "Toe syndactyly", - "trunk", - "pedal digit", - "Abnormality of globe location", - "musculature of body", - "ventricular system of brain", - "Hypertelorism", - "abnormal visual perception", - "increased length of the anatomical line between pupils", - "male germ cell", - "anatomical line", - "pelvic appendage", - "increased anatomical entity length in independent continuant", - "Cardiomyopathy", - "abnormal oral cavity morphology", - "abnormal location of anatomical entity", - "hypothalamus-pituitary axis", - "abnormal hypothalamus-pituitary axis", - "nervous system process", - "exocrine system", - "kinesthetic behavior", - "flattened anatomical entity in independent continuant", - "anatomical entity hypoplasia in independent continuant", - "blood vessel", - "hepatobiliary system", - "Intrauterine growth retardation", - "abdomen", - "liver", - "Abnormality of the endocrine system", - "abnormal brain ventricle morphology", - "Displacement of the urethral meatus", - "abnormal size of brain ventricle", - "Ventriculomegaly", - "Abnormal cerebral ventricle morphology", - "increased size of the anatomical entity", - "multi cell part structure", - "abnormality of internal male genitalia physiology", - "abnormal brain ventricle/choroid plexus morphology", - "hemopoiesis", - "Abnormal vestibulo-ocular reflex", - "femur", - "Metazoa", - "opaque lens of camera-type eye", - "Abnormal ear morphology", - "abnormal external ear", - "Abnormality of the outer ear", - "abnormal number of anatomical entities of type anatomical entity in blood", - "skeleton of pedal acropodium", - "abnormal external ear morphology", - "Abnormality of the ear", - "Abnormal pinna morphology", - "Abnormal frontal bone morphology", - "abdominal segment element", - "digit 1 plus metapodial segment", - "abnormal ear", - "external ear", - "abnormal number of anatomical enitites of type sperm", - "decreased biological_process", - "Cataract", - "semen", - "reproductive process", - "bony vertebral centrum", - "Decreased fertility in males", - "reproduction", - "abnormal ear morphology", - "Abnormal internal genitalia", - "brain ventricle", - "abnormal closing of the anatomical entity", - "Abnormal testis morphology", - "subdivision of skeleton", - "abnormal anatomical entity, curved", - "sexual reproduction", - "developmental process involved in reproduction", - "segment of pes", - "multicellular organismal reproductive process", - "skeleton of pedal digitopodium", - "abnormal reproductive process", - "skin of face", - "decreased qualitatively developmental process", - "multicellular organismal movement", - "Abnormal atrial septum morphology", - "absent anatomical entity in the semen", - "abnormal anatomical entity length", - "abnormal number of anatomical enitites of type cell", - "germ line cell", - "cardiac chamber", - "abnormal anatomical entity morphology", - "changed developmental process rate", - "Hip dislocation", - "malformed anatomical entity", - "Abnormal peripheral nervous system morphology", - "root", - "abnormal multicellular organismal reproductive process", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormally fused anatomical entity and anatomical entity", - "aplasia or hypoplasia of palatine uvula", - "absent gamete", - "digit 5", - "venous blood vessel", - "Functional abnormality of male internal genitalia", - "anatomical wall", - "absent sperm in the semen", - "Abnormality of the liver", - "obsolete multicellular organism reproduction", - "Azoospermia", - "decreased pigmentation in multicellular organism", - "Sideroblastic anemia", - "Non-obstructive azoospermia", - "increased biological_process in skin of body", - "abnormal cornea, asymmetrically curved", - "absent anatomical entity in the multicellular organism", - "Abnormal heart morphology", - "Multiple cafe-au-lait spots", - "pelvic complex", - "sperm", - "deviation of digit towards the middle", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "increased size of the anatomical entity in independent continuant", - "absent anatomical entity in the independent continuant", - "decreased qualitatively biological_process", - "specifically dependent continuant", - "Abnormal spermatogenesis", - "Micrognathia", - "abnormal internal genitalia", - "Abnormality of the face", - "decreased qualitatively reproductive process", - "abnormal heart right ventricle morphology", - "Abnormal toe phalanx morphology", - "Abnormal ganglion morphology", - "abnormal anatomical entity mass density", - "male gamete generation", - "decreased developmental process", - "abnormal gamete generation", - "abnormal developmental process involved in reproduction", - "abnormal interventricular septum morphology", - "abnormal anatomical entity morphology in the heart", - "prepuce", - "Decreased fertility", - "integument", - "pigmentation", - "brain ventricle/choroid plexus", - "abnormal vault of skull", - "Abnormality of skin morphology", - "Abnormality of the skin", - "abnormal craniocervical region morphology", - "abnormal integument", - "Abnormal oral morphology", - "abnormal skin of body morphology", - "Abnormality of brain morphology", - "erythrocyte homeostasis", - "abnormal arch of centrum of vertebra", - "venous system", - "Abnormal forebrain morphology", - "abnormal anatomical entity morphology in the brain", - "abnormal telencephalon morphology", - "Abnormal involuntary eye movements", - "aplasia or hypoplasia of anatomical entity", - "abnormal pes morphology", - "All", - "organism", - "increased size of the heart right ventricle", - "Abnormal skull morphology", - "embryonic tissue", - "Opisthokonta", - "reproductive organ", - "digitopodium bone", - "organism substance", - "eye", - "Aplasia/Hypoplasia of the testes", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormality of reproductive system physiology", - "regional part of brain", - "Microcephaly", - "increased qualitatively response to stimulus", - "endocrine system", - "skull", - "abnormal size of anatomical entity", - "aplasia or hypoplasia of telencephalon", - "abnormal leukocyte morphology", - "abnormal brain morphology", - "skeleton of pes", - "stylopod", - "organ part", - "immune system", - "renal system", - "esophagus", - "Abnormality of the urinary system physiology", - "skeleton of lower jaw", - "bone of appendage girdle complex", - "Unusual infection", - "excretory system", - "abnormal renal system", - "Abnormality of the immune system", - "palpebral fissure", - "abnormally fused pedal digit and anatomical entity", - "autonomic ganglion", - "deviation of manual digit towards the middle", - "Recurrent urinary tract infections", - "Abnormality of the urinary system", - "Ptosis", - "Craniofacial cleft", - "ductus arteriosus", - "neuron projection bundle", - "abnormal eyelid morphology", - "intromittent organ", - "Abnormality of skin pigmentation", - "autopodial extension", - "eyelid", - "abnormal camera-type eye morphology", - "Abnormal male reproductive system physiology", - "drooping eyelid", - "organ system subdivision", - "Abnormal eyelid morphology", - "anatomical line between pupils", - "system development", - "ocular adnexa", - "tissue morphogenesis", - "abnormal manus morphology", - "Abnormality of immune system physiology", - "multi organ part structure", - "Meckel diverticulum", - "transparent eye structure", - "Abnormal lens morphology", - "lens of camera-type eye", - "abnormal immune system", - "neural tube", - "opaque anatomical entity", - "abnormal anatomical entity morphology in the manus", - "Abnormality of skull size", - "abnormal manus", - "ventricular system of central nervous system", - "acropodium region", - "neural tube closure", - "manual digit 1", - "abnormal nervous system", - "manual digit plus metapodial segment", - "abnormal shape of external ear", - "skeleton of manus", - "gonad", - "abnormal zone of skin morphology", - "postcranial axial skeletal system", - "digit 1 digitopodial skeleton", - "asymmetrically curved anatomical entity", - "forelimb zeugopod bone", - "manual digit digitopodial skeleton", - "skeleton of manual acropodium", - "Abnormal digit morphology", - "abnormal manual digit morphology in the manus", - "Hernia of the abdominal wall", - "femur endochondral element", - "Abnormality of head or neck", - "Abnormality of reproductive system physiology", - "digit plus metapodial segment", - "abnormal kidney", - "trunk blood vessel", - "bone of pelvic complex", - "Abnormal bone structure", - "acropodial skeleton", - "abnormal bone element mass density", - "brain", - "manual digitopodium region", - "Hypertrophic cardiomyopathy", - "manus", - "cardiac valve", - "decreased spermatogenesis", - "abnormal prepuce of penis morphology", - "abnormal endocrine system", - "limb long bone", - "manual digit bone", - "Abnormal thumb morphology", - "Eumetazoa", - "segment of autopod", - "jaw region", - "manual digit phalanx endochondral element", - "abnormal manual digit morphology in the independent continuant", - "vein", - "internal male genitalia", - "Abnormal ocular adnexa morphology", - "Abnormal pulmonary valve physiology", - "Abnormality of thumb phalanx", - "Abnormal finger phalanx morphology", - "arterial system", - "abnormal phalanx of manus morphology", - "septum", - "autopodial skeleton", - "coronary vessel", - "abnormal anatomical entity, asymmetrically curved", - "abnormal anatomical entity morphology in the skeleton of manus", - "facial bone", - "Hearing impairment", - "abnormal digit", - "abnormally fused anatomical entity and manual digit", - "digestive system gland", - "abnormal ganglion morphology", - "phalanx", - "manual digit 1 phalanx endochondral element", - "autopod endochondral element", - "autopod bone", - "phalanx of manus", - "main body axis", - "manual digit", - "tetrapod frontal bone", - "limb joint", - "abnormal phalanx morphology", - "male reproductive system", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "future central nervous system", - "abnormally fused digit and anatomical entity", - "Growth delay", - "abnormal location of eyeball of camera-type eye", - "digitopodium region", - "Abnormality of the vertebral column", - "ecto-epithelium", - "embryonic structure", - "skeletal joint dislocation", - "developmental process", - "manual digit 1 digitopodial skeleton", - "abnormal vertebral column", - "abnormality of camera-type eye physiology", - "cranial nerve", - "embryonic epithelial tube formation", - "Abnormality of the peripheral nervous system", - "Hypoplastic facial bones", - "abnormal semi-lunar valve morphology", - "Reduced bone mineral density", - "Macule", - "abnormal reproductive system", - "anatomical structure formation involved in morphogenesis", - "Choanal atresia", - "Abnormal cerebral cortex morphology", - "anatomical structure development", - "male urethra", - "Abnormal vascular morphology", - "embryonic morphogenesis", - "Abnormal eye physiology", - "Abnormality of the lower limb", - "abnormal erythrocyte morphology", - "postcranial axial skeleton", - "Abnormal cellular phenotype", - "vertebral column", - "abnormal long bone morphology", - "paired limb/fin skeleton", - "morphogenesis of an epithelium", - "articular system", - "neural tube development", - "tube morphogenesis", - "innominate bone", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormally increased number of anatomical entity", - "abnormal blood cell morphology", - "subdivision of organism along appendicular axis", - "abnormal embryonic tissue morphology", - "abnormal myeloid cell morphology", - "Abnormality of the nervous system", - "respiratory tract", - "abnormal cell morphology", - "primary neural tube formation", - "neural tube formation", - "Abnormal small intestine morphology", - "abnormal secondary palate morphology", - "digestive system", - "abnormal neural tube closure", - "erythrocyte", - "telencephalon", - "Hydrocephalus", - "manual digit 1 plus metapodial segment", - "Abnormal vertebral morphology", - "Spina bifida", - "Abnormality of mental function", - "tissue", - "abnormally decreased number of cell", - "abnormal intestine morphology", - "abnormal vertebra morphology", - "abnormal anatomical entity topology in independent continuant", - "Abnormal myeloid cell morphology", - "palatine uvula", - "nervous system", - "morphogenesis of embryonic epithelium", - "Abnormality of the kidney", - "Abnormality of male external genitalia", - "limb segment", - "cerebral cortex", - "gray matter of forebrain", - "abnormal incomplete closing of the arch of centrum of vertebra", - "dorsum", - "roof of mouth", - "absent anatomical entity", - "central nervous system", - "circulatory organ", - "abnormal outflow part of left ventricle morphology", - "abnormality of male reproductive system physiology", - "glandular system", - "reflexive behavior", - "abnormal tube formation", - "Abnormality of chromosome stability", - "Abnormal blood vessel morphology", - "spinal cord", - "abnormal limb bone morphology", - "abnormal opening of the anatomical entity", - "abnormal number of anatomical enitites of type myeloid cell", - "Vertebral arch anomaly", - "Frontal bossing", - "axial skeleton plus cranial skeleton", - "gray matter of telencephalon", - "parasympathetic nervous system", - "prepuce of penis", - "vertebra", - "abnormality of anatomical entity physiology", - "artery", - "vasculature", - "Abnormal anus morphology", - "Abnormality of limb bone", - "Decreased head circumference", - "sense organ", - "subdivision of skeletal system", - "circulatory system", - "abnormally decreased number of anatomical entity in the multicellular organism", - "cardiovascular system", - "process", - "epithelium", - "abnormal neural tube morphology", - "Abnormal respiratory system physiology", - "abnormal bone of pectoral complex morphology", - "urethral opening", - "camera-type eye", - "shape longitudinal arch of pes", - "Abnormality of the upper limb", - "embryo development", - "anatomical projection", - "Abnormal reproductive system morphology", - "systemic arterial system", - "viscus", - "arterial blood vessel", - "Abnormal eye morphology", - "abnormal cardiovascular system morphology", - "abnormally formed anatomical entity in independent continuant", - "abnormal anterior segment of eyeball morphology", - "thoracic segment of trunk", - "umbilicus", - "vascular system", - "dorsal region element", - "Abnormality of the vasculature", - "abnormal cerebral hemisphere morphology", - "common carotid artery plus branches", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal cardiovascular system", - "abnormal common carotid artery plus branches morphology", - "quality", - "epithelial tube", - "abnormal digestive system morphology", - "Abnormal systemic arterial morphology", - "abnormal duodenum morphology", - "Abnormal cranial nerve physiology", - "nerve", - "peripheral nervous system", - "Abnormal neural tube morphology", - "paralysed anatomical entity", - "Abnormal pelvic girdle bone morphology", - "Clubbing", - "Upslanted palpebral fissure", - "forebrain", - "Eukaryota", - "ileum", - "abnormal synovial joint morphology", - "abnormal peripheral nervous system", - "aplasia or hypoplasia of uvea", - "future nervous system", - "increased reflex", - "forelimb", - "transudate", - "shape cornea", - "bone of free limb or fin", - "abnormal olfactory system morphology", - "Abnormal appendicular skeleton morphology", - "abnormal incomplete closing of the anatomical entity", - "pectoral appendage", - "bodily fluid", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormal limb long bone morphology", - "cranial nerve related reflex", - "Abnormal upper limb bone morphology", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal nervous system morphology", - "abnormal incomplete closing of the interatrial septum", - "forelimb zeugopod", - "multi-limb segment region", - "bone of jaw", - "organ", - "Abnormal cornea morphology", - "abnormal female reproductive system", - "abnormal nervous system morphology", - "vasculature of organ", - "Cranial nerve paralysis", - "abnormal cell", - "abnormal innominate bone morphology", - "bone element", - "digit 1", - "upper jaw region", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "left cardiac chamber", - "abnormal vascular system morphology", - "Abnormal foot morphology", - "visual system", - "thoracic segment organ", - "limb bone", - "cranial skeletal system", - "abnormal vertebral column morphology", - "organism subdivision", - "vestibulo-auditory system", - "absent germ cell", - "paired limb/fin", - "Recurrent infections", - "response to stimulus", - "brain gray matter", - "forelimb endochondral element", - "Abnormal curvature of the vertebral column", - "pectoral appendage skeleton", - "Conotruncal defect", - "abnormal limb", - "abnormal peripheral nervous system morphology", - "simple eye", - "abnormal forelimb morphology", - "Abnormal carotid artery morphology", - "skeletal element", - "abnormal bony vertebral centrum morphology", - "internal naris", - "non-connected functional system", - "abnormal forelimb zeugopod morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormality of multicellular organism height", - "Abnormal forearm bone morphology", - "abnormal forehead morphology", - "Abnormal form of the vertebral bodies", - "Aplasia/hypoplasia of the extremities", - "skeleton of digitopodium", - "skeleton of pectoral complex", - "abnormal systemic artery morphology", - "abnormal manual digit 5 morphology", - "Abnormality of the integument", - "vertebral centrum element", - "urethra", - "paired limb/fin segment", - "external soft tissue zone", - "Abnormal skeletal morphology", - "Tetralogy of Fallot", - "abnormal size of skull", - "Abnormality of the musculoskeletal system", - "abnormal development of anatomical entity", - "ulna", - "trunk region element", - "anatomical entity", - "pectoral complex", - "abnormal great vessel of heart morphology", - "abnormal midface morphology", - "abnormal appendicular skeleton morphology", - "immune system process", - "tunica fibrosa of eyeball", - "abnormal developmental process", - "bone of pectoral complex", - "forelimb skeleton", - "abdominal segment of trunk", - "digit", - "endoderm-derived structure", - "Abnormal respiratory system morphology", - "Abnormal morphology of ulna", - "urethral meatus", - "layer of muscle tissue", - "head bone", - "Abnormality of the skeletal system", - "increased biological_process", - "arm bone", - "appendage girdle complex", - "abnormally fused manual digit and anatomical entity", - "endochondral bone", - "abnormally decreased number of leukocyte", - "irregular bone", - "abnormal ulna morphology", - "arch of centrum of vertebra", - "abnormal musculoskeletal movement", - "Abnormality of the respiratory system", - "abnormal skeletal system", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "Abnormal pulmonary valve morphology", - "Abnormal hand morphology", - "abnormal aortic valve morphology", - "Tracheoesophageal fistula", - "abnormality of cranial nerve physiology", - "Abnormality of body height", - "Abnormal palate morphology", - "Abnormality of limb bone morphology", - "phalanx of pes", - "biological_process", - "nervous system development", - "abnormal heart layer morphology", - "Abnormal forearm morphology", - "Abnormality of the hypothalamus-pituitary axis", - "penis", - "abnormal phalanx of pes morphology", - "Morphological central nervous system abnormality", - "phalanx endochondral element", - "limb skeleton subdivision", - "decreased qualitatively pigmentation", - "abnormal ocular adnexa", - "Hydroureter", - "posterior nasal aperture", - "abnormally fused anatomical entity and digit", - "Neurodevelopmental abnormality", - "abnormal penis morphology", - "male urethral meatus", - "Abnormality of the female genitalia", - "abnormal testis morphology", - "Abnormal esophagus morphology", - "abnormal anterior uvea morphology", - "reproductive system", - "abnormal sensory perception of light stimulus", - "exocrine gland", - "abnormal male reproductive system morphology", - "entity", - "Abnormality of the curvature of the cornea", - "abnormally decreased functionality of the gonad", - "skeleton of manual digitopodium", - "axial skeletal system", - "decreased biological_process in multicellular organism", - "hypertrophic multicellular anatomical structure", - "Abnormal joint morphology", - "spermatogenesis", - "absent sperm", - "abnormal liver", - "abnormally fused anatomical entity and pedal digit", - "Aplasia/hypoplasia involving forearm bones", - "abnormality of nervous system physiology", - "abnormality of anatomical entity height", - "abnormal genitourinary system", - "Abnormality of connective tissue", - "aplasia or hypoplasia of eyeball of camera-type eye", - "independent continuant", - "abnormal orbital region", - "shape digit", - "curved anatomical entity", - "long bone", - "Abnormal spinal cord morphology", - "abnormal male reproductive system", - "Hyperpigmentation of the skin", - "epithelium development", - "manual digit 1 or 5", - "reproductive structure", - "obsolete cell", - "male reproductive organ", - "Umbilical hernia", - "abnormal reproductive system morphology", - "thoracic segment blood vessel", - "Abnormality of the gastrointestinal tract", - "Cognitive impairment", - "abnormal external genitalia", - "abnormal cornea morphology", - "Abnormal external genitalia", - "anterior region of body", - "Triphalangeal thumb", - "epithelial tube formation", - "abnormal pelvic girdle bone/zone morphology", - "skeleton of limb", - "multicellular organismal-level homeostasis", - "manus bone", - "nervous system cell part layer", - "skeleton", - "pelvic girdle region", - "individual digit of digitopodial skeleton", - "developing anatomical structure", - "Abnormal preputium morphology", - "integumental system", - "abnormal gamete", - "Abnormal nervous system physiology", - "anatomical structure", - "abnormally increased number of anatomical entity in the independent continuant", - "Morphological abnormality of the gastrointestinal tract", - "upper leg bone", - "Abnormality of the mouth", - "Abnormal penis morphology", - "lateral structure", - "limb", - "Abnormality of the hand", - "appendicular skeletal system", - "increased height of anatomical entity in independent continuant", - "germ cell", - "abnormality of cardiovascular system physiology", - "multicellular organism development", - "abnormal spermatogenesis", - "segment of manus", - "Joint dislocation", - "body proper", - "cellular process", - "Abnormal anterior eye segment morphology", - "abnormal connective tissue", - "aortic valve", - "abnormal eyeball of camera-type eye", - "testis", - "shape eyelid", - "craniocervical region", - "Abnormality of the genital system", - "Deviation of the hand or of fingers of the hand", - "paralysed cranial nerve", - "abnormal vasculature", - "nerve of head region", - "upper urinary tract", - "hindlimb endochondral element", - "abnormally increased number of brain ventricle in the independent continuant", - "delayed biological_process", - "skeletal system", - "Neoplasm", - "system process", - "manual digit 1 phalanx", - "Abnormal calvaria morphology", - "abnormal forelimb zeugopod bone", - "increased height of the anatomical entity", - "external male genitalia", - "upper eyelid", - "Abnormal ear physiology", - "Astigmatism", - "abnormal arm", - "decreased pigmentation in skin of body", - "abnormal small intestine morphology", - "Abnormal cerebral morphology", - "organ subunit", - "organ component layer", - "Ventricular septal defect", - "abnormality of immune system physiology", - "genitourinary system", - "multicellular organismal process", - "anterior segment of eyeball", - "cognition", - "subdivision of head", - "abnormal central nervous system morphology", - "Abnormal renal morphology", - "continuant", - "haploid cell", - "Abnormality of limbs", - "Abnormality of eye movement", - "abnormal alimentary part of gastrointestinal system morphology", - "material entity", - "Abnormal platelet count", - "abnormal head", - "asymmetrically curved cornea", - "face", - "abnormal craniocervical region", - "entire sense organ system", - "pelvic appendage skeleton", - "upper limb segment", - "Abnormal duodenum morphology", - "neural crest-derived structure", - "abdomen element", - "Abnormality of the orbital region", - "cranial neuron projection bundle", - "curvature anatomical entity", - "heart vasculature", - "arm", - "respiratory tube", - "ocular surface region", - "Abnormality of enteric ganglion morphology", - "disconnected anatomical group", - "drooping anatomical entity", - "presumptive structure", - "abnormal limb morphology", - "Abnormal facial shape", - "eyeball of camera-type eye", - "curved anatomical entity in independent continuant", - "Duodenal stenosis", - "musculoskeletal system", - "abnormal nerve", - "Abnormality of refraction", - "appendage", - "homeostasis of number of cells", - "embryo", - "Aganglionic megacolon", - "changed biological_process rate", - "blood cell", - "abnormal spinal cord morphology", - "Atypical behavior", - "Neural tube defect", - "abnormally decreased number of hematopoietic cell", - "tracheobronchial tree", - "protein-containing material entity", - "abnormal autopod region morphology", - "abnormal shape of cornea", - "radius endochondral element", - "Abnormal morphology of the radius", - "abnormal respiratory tube morphology", - "epithelial tube morphogenesis", - "alimentary part of gastrointestinal system", - "abnormal platelet", - "anatomical cluster", - "Abnormality of corneal shape", - "appendicular skeleton", - "Abnormality of blood and blood-forming tissues", - "Abnormal axial skeleton morphology", - "Abnormality of thrombocytes", - "facial skeleton", - "Aplasia/Hypoplasia of the cerebrum", - "abnormal male reproductive organ morphology", - "male organism", - "regional part of nervous system", - "shape anatomical entity", - "digit 5 plus metapodial segment", - "tube closure", - "Abnormal heart valve physiology", - "forelimb bone", - "Abnormal vestibular function", - "abnormal head morphology", - "head", - "oral cavity", - "abnormal respiratory system", - "herniated abdominal wall", - "male gamete", - "Abnormal size of the palpebral fissures", - "abnormality of respiratory system physiology", - "ectoderm-derived structure", - "Abnormal long bone morphology", - "systemic artery", - "abnormal size of head", - "manual digit 5 plus metapodial segment", - "structure with developmental contribution from neural crest", - "anatomical structure morphogenesis", - "orbital region", - "trachea", - "mouth", - "decreased size of the eyeball of camera-type eye", - "Abnormality of the digestive system", - "abnormal cornea, curved", - "abnormal tracheobronchial tree morphology", - "proximo-distal subdivision of respiratory tract", - "chordate embryonic development", - "Short long bone", - "immaterial anatomical entity", - "endochondral element", - "abnormal amniotic fluid", - "Abnormality of the head", - "phenotype", - "anus", - "abnormal digit morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal forebrain morphology", - "erythroid lineage cell", - "pulmonary valve", - "flat bone", - "hematopoietic system", - "Abnormality of body weight", - "subdivision of tube", - "skin of body", - "multi-tissue structure", - "abnormal biological_process", - "abnormal pigmentation", - "lower respiratory tract", - "abnormality of renal system physiology", - "gray matter", - "abnormal ocular adnexa morphology", - "Abnormality of the eye", - "abnormal growth", - "respiratory system", - "changed biological_process rate in independent continuant", - "gamete", - "Neurodevelopmental delay", - "late embryo", - "abnormal external male genitalia", - "digestive tract", - "abnormal ureter", - "abnormal palpebral fissure", - "Abnormality of the male genitalia", - "gland", - "abnormal cardiac atrium morphology in the heart", - "abnormal postcranial axial skeleton morphology", - "abnormal systemic arterial system morphology", - "abnormal shape of continuant", - "neurocranium bone", - "pelvic girdle bone/zone", - "Abnormal peripheral nerve morphology by anatomical site", - "lower limb segment", - "limb endochondral element", - "zeugopod", - "abnormal esophagus morphology", - "behavior", - "anatomical conduit", - "bone element hypoplasia in face", - "blood vasculature", - "cornea", - "increased pigmentation", - "abnormal hematopoietic system", - "anatomical collection", - "embryo development ending in birth or egg hatching", - "subdivision of organism along main body axis", - "glans penis", - "abnormal respiratory system morphology", - "subdivision of trunk", - "abnormally decreased number of anatomical entity in the blood", - "Abnormal morphology of female internal genitalia", - "curvature anatomical entity in independent continuant", - "Phenotypic abnormality", - "heart right ventricle", - "cellular organisms", - "Abnormality of the testis size", - "increased length of the anatomical entity", - "shape anatomical entity in independent continuant", - "Absent testis", - "system", - "Aplasia/Hypoplasia involving bones of the skull", - "abnormal digestive system", - "subdivision of digestive tract", - "abnormal heart morphology", - "tube development", - "heart left ventricle", - "aplasia or hypoplasia of manual digit", - "Neoplasm by anatomical site", - "tube", - "mandible", - "zeugopodial skeleton", - "pedal digit digitopodial skeleton", - "abnormal anatomical entity", - "abnormal limb bone", - "abnormal blood vessel morphology", - "non-material anatomical boundary", - "leg bone", - "Abnormality of digestive system morphology", - "abnormal head bone morphology", - "abnormal leg", - "abnormal artery morphology", - "musculoskeletal movement", - "digit 1 or 5", - "Intellectual disability", - "abnormal vestibulo-ocular reflex", - "Decreased anatomical entity mass", - "abnormal small intestine", - "abnormal penis", - "Abnormal cell morphology", - "thoracic cavity element", - "abnormal phenotype by ontology source", - "multicellular anatomical structure", - "increased biological_process in independent continuant", - "manual digitopodium bone", - "abnormal skeletal system morphology", - "abnormally protruding anatomical entity", - "absent sperm in the independent continuant", - "occurrent", - "clavate digit", - "endocrine gland", - "abnormal incomplete closing of the interventricular septum", - "Abnormal bone ossification", - "Abnormal tracheobronchial morphology", - "Abnormal tracheal morphology", - "abnormal alimentary part of gastrointestinal system", - "tube formation", - "ulna endochondral element", - "autopod region", - "compound organ", - "nose", - "Abnormality of the genitourinary system", - "deviation of manual digit", - "3-D shape anatomical entity in independent continuant", - "digestive system element", - "ear", - "aplasia or hypoplasia of iris", - "Abnormality of the ocular adnexa", - "vessel", - "forelimb long bone", - "cell", - "Spinal dysraphism", - "phenotype by ontology source", - "Abnormality of enteric nervous system morphology", - "gamete generation", - "shape palpebral fissure", - "tissue development", - "Localized skin lesion", - "hemolymphoid system", - "material anatomical entity", - "Short forearm", - "Abnormality of cardiovascular system morphology", - "Hematological neoplasm", - "abnormally fused digit and digit", - "external genitalia", - "abnormal roof of mouth morphology", - "abnormal lens of camera-type eye morphology", - "abnormal face", - "vertebral element", - "Myelodysplasia", - "mesoderm-derived structure", - "increased size of the brain ventricle", - "Anemia of inadequate production", - "multicellular organism", - ], - }, - { - "id": "MONDO:0013248", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group O", - "xref": ["DOID:0111096", "GARD:15656", "OMIM:613390", "UMLS:C3150653"], - "provided_by": "phenio_nodes", - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.", - "synonym": [ - "FANCO", - "Fanconi Anemia, complementation group type O", - "Fanconi anaemia caused by mutation in RAD51C", - "Fanconi anaemia caused by mutation in Rad51C", - "Fanconi anaemia complementation group type O", - "Fanconi anemia caused by mutation in RAD51C", - "Fanconi anemia caused by mutation in Rad51C", - "Fanconi anemia complementation group type O", - "Fanconi anemia, complementation group O", - "RAD51C Fanconi anaemia", - "RAD51C Fanconi anemia", - "Rad51C Fanconi anaemia", - "Rad51C Fanconi anemia", - ], - "namespace": "MONDO", - "has_phenotype": [ - "HP:0040012", - "HP:0000107", - "HP:0001245", - "HP:0025023", - "HP:0002984", - "HP:0009777", - "HP:0000126", - "HP:0000028", - "HP:0009778", - "HP:0009623", - "HP:0001627", - "HP:0003241", - "HP:0004322", - "HP:0002023", - "HP:0003774", - ], - "has_phenotype_label": [ - "Chromosome breakage", - "Renal cyst", - "Small thenar eminence", - "Rectal atresia", - "Hypoplasia of the radius", - "Absent thumb", - "Hydronephrosis", - "Cryptorchidism", - "Short thumb", - "Proximal placement of thumb", - "Abnormal heart morphology", - "External genital hypoplasia", - "Short stature", - "Anal atresia", - "Stage 5 chronic kidney disease", - ], - "has_phenotype_count": 15, - "has_phenotype_closure": [ - "UPHENO:0086132", - "UPHENO:0002411", - "UPHENO:0002442", - "UBERON:0004121", - "UBERON:0000161", - "UPHENO:0086644", - "UPHENO:0080351", - "HP:0001507", - "GO:0040007", - "UPHENO:0075159", - "HP:0001510", - "UPHENO:0080352", - "UPHENO:0081424", - "HP:0003241", - "UBERON:0010314", - "UBERON:0007100", - "UBERON:0005178", - "UPHENO:0076776", - "UPHENO:0080362", - "UBERON:0015228", - "UBERON:0002075", - "UPHENO:0076810", - "HP:0030680", - "HP:0001626", - "UPHENO:0084834", - "HP:0004097", - "UPHENO:0084829", - "UPHENO:0084841", - "HP:0009381", - "HP:0011927", - "UPHENO:0046624", - "UPHENO:0046411", - "UPHENO:0081755", - "UPHENO:0080382", - "GO:0007276", - "UPHENO:0053580", - "UPHENO:0050108", - "UPHENO:0002595", - "UPHENO:0082875", - "UPHENO:0049985", - "HP:0000811", - "UBERON:0004053", - "UPHENO:0049970", - "UBERON:0000473", - "CL:0000039", - "CL:0000413", - "UBERON:0000990", - "UPHENO:0086023", - "HP:0012243", - "UPHENO:0049367", - "HP:0003774", - "UPHENO:0085875", - "CL:0000015", - "UBERON:0003101", - "GO:0032502", - "GO:0022414", - "GO:0000003", - "UPHENO:0002598", - "UBERON:0005156", - "GO:0032504", - "UPHENO:0050101", - "UPHENO:0000541", - "UPHENO:0003055", - "UPHENO:0005016", - "UPHENO:0078729", - "UPHENO:0021561", - "CL:0000586", - "GO:0019953", - "HP:0009484", - "GO:0003006", - "GO:0048609", - "HP:0000025", - "UPHENO:0085194", - "UPHENO:0002371", - "HP:0009603", - "HP:0012874", - "UBERON:0003133", - "HP:0011961", - "UBERON:0004175", - "CL:0000300", - "UBERON:0000079", - "UPHENO:0002597", - "UPHENO:0049701", - "UPHENO:0011498", - "UPHENO:0086682", - "UPHENO:0053298", - "UPHENO:0077426", - "HP:0011425", - "UPHENO:0086128", - "GO:0006139", - "HP:0010944", - "UPHENO:0087973", - "UPHENO:0088186", - "UBERON:0000025", - "UPHENO:0001072", - "HP:0034242", - "UBERON:0000323", - "UPHENO:0001478", - "UPHENO:0065599", - "UBERON:5002544", - "UPHENO:0008668", - "HP:0001167", - "UBERON:5001463", - "UPHENO:0081790", - "HP:0009777", - "HP:0002589", - "UPHENO:0080099", - "UBERON:0001224", - "UPHENO:0080325", - "UBERON:0012354", - "UBERON:0004381", - "UBERON:0012140", - "UBERON:0001463", - "UBERON:0004481", - "UPHENO:0026183", - "UBERON:0011676", - "UPHENO:0084766", - "UPHENO:0001002", - "HP:0034058", - "HP:0001172", - "HP:0001446", - "UPHENO:0006910", - "UBERON:0001968", - "UPHENO:0081451", - "UPHENO:0086956", - "UBERON:5002389", - "UPHENO:0076724", - "UPHENO:0026028", - "HP:0033127", - "UPHENO:0087349", - "HP:0009824", - "HP:0045060", - "UBERON:0003460", - "UBERON:0003607", - "UPHENO:0046505", - "UPHENO:0080377", - "UPHENO:0085874", - "UBERON:0002495", - "HP:0011277", - "UBERON:0010740", - "HP:0009115", - "UPHENO:0076735", - "UBERON:0010363", - "UPHENO:0076740", - "UPHENO:0078452", - "UBERON:0003466", - "NCBITaxon:33208", - "UPHENO:0075893", - "UBERON:0010741", - "UBERON:0008962", - "UPHENO:0050021", - "UPHENO:0002964", - "UBERON:0002544", - "UBERON:0015001", - "HP:0011844", - "UPHENO:0002714", - "UBERON:0010912", - "HP:0000924", - "UBERON:0004176", - "UBERON:0002428", - "UPHENO:0046538", - "GO:0006259", - "OBI:0100026", - "HP:0009826", - "HP:0040068", - "GO:0010468", - "HP:0010461", - "HP:0004378", - "HP:0000002", - "HP:0011842", - "HP:0000032", - "UBERON:0004288", - "UBERON:0000160", - "UBERON:0004120", - "UPHENO:0020041", - "UPHENO:0002751", - "UBERON:0002204", - "HP:0040072", - "UBERON:0002091", - "UBERON:0019231", - "GO:0031323", - "UBERON:0011249", - "UBERON:0010703", - "UBERON:0002113", - "UBERON:0015021", - "UBERON:0007272", - "UPHENO:0079876", - "UBERON:0034923", - "GO:0008150", - "UBERON:0015061", - "UBERON:0034925", - "UPHENO:0081313", - "HP:0003026", - "HP:0002973", - "UPHENO:0080114", - "HP:0000077", - "UBERON:0001474", - "UBERON:0000948", - "UBERON:0000991", - "GO:0048519", - "UBERON:0034929", - "HP:0040070", - "HP:0012211", - "HP:0001227", - "HP:0006503", - "UBERON:0002386", - "HP:0009778", - "HP:0000812", - "HP:0002984", - "UPHENO:0086633", - "UPHENO:0087510", - "HP:0002664", - "UPHENO:0080187", - "UPHENO:0087501", - "GO:0007283", - "UBERON:0001353", - "UBERON:0000075", - "HP:0034057", - "HP:0002242", - "HP:0010945", - "UPHENO:0053644", - "HP:0009601", - "HP:0005773", - "UBERON:0006866", - "UBERON:0001442", - "UBERON:0001052", - "UPHENO:0063565", - "HP:0011793", - "UPHENO:0046540", - "UBERON:0013765", - "UBERON:0005409", - "UPHENO:0074228", - "HP:0002034", - "UPHENO:0046707", - "UPHENO:0026506", - "UBERON:0001555", - "UPHENO:0076803", - "NCBITaxon:33154", - "UBERON:0014793", - "NCBITaxon:131567", - "UPHENO:0049940", - "UPHENO:0008523", - "NCBITaxon:1", - "HP:0025033", - "UPHENO:0076773", - "HP:0009380", - "HP:0008669", - "UBERON:0000059", - "UBERON:0001007", - "UBERON:0000064", - "HP:0002023", - "UBERON:0005181", - "UPHENO:0080369", - "HP:0011100", - "UBERON:0010707", - "UPHENO:0002833", - "HP:0011024", - "NCBITaxon:6072", - "UBERON:0001062", - "UPHENO:0084124", - "CL:0000408", - "UBERON:0013522", - "HP:0010935", - "UBERON:0002398", - "UBERON:0000922", - "UPHENO:0081091", - "UBERON:0015410", - "HP:0025023", - "UBERON:0011584", - "HP:0004322", - "HP:0001627", - "GO:0010629", - "GO:0006807", - "GO:0044238", - "UBERON:0000383", - "UPHENO:0015280", - "UPHENO:0002649", - "UBERON:0000915", - "UBERON:0012361", - "HP:0001245", - "UBERON:0019221", - "BFO:0000020", - "UBERON:0007269", - "UBERON:0004765", - "GO:0006725", - "UPHENO:0002816", - "UBERON:0005177", - "UBERON:0002529", - "UPHENO:0069294", - "UBERON:0001630", - "HP:0000080", - "PR:000050567", - "HP:0040064", - "UPHENO:0002905", - "UBERON:0004480", - "UPHENO:0063639", - "UPHENO:0084448", - "UPHENO:0009382", - "GO:0071704", - "UPHENO:0084763", - "UBERON:0012139", - "UBERON:0005090", - "UPHENO:0049587", - "UBERON:0002470", - "GO:0032501", - "HP:0000126", - "UBERON:0005451", - "HP:0009623", - "UPHENO:0002655", - "UBERON:0002389", - "UBERON:0006717", - "UPHENO:0002708", - "UPHENO:0000543", - "UPHENO:0076718", - "UBERON:0002471", - "UPHENO:0050116", - "UBERON:0003103", - "UPHENO:0068971", - "GO:0031049", - "UBERON:0003135", - "UBERON:0008878", - "HP:0002817", - "UPHENO:0081423", - "UBERON:0010712", - "UPHENO:0084771", - "UBERON:0017716", - "UPHENO:0076692", - "UPHENO:0069254", - "UBERON:0008785", - "UBERON:0004710", - "HP:0000107", - "UPHENO:0002786", - "UPHENO:0076710", - "UPHENO:0002830", - "UPHENO:0076723", - "CL:0000000", - "UBERON:0007271", - "HP:0034915", - "UBERON:0010538", - "UPHENO:0005651", - "UBERON:0002102", - "UPHENO:0086635", - "UPHENO:0018390", - "UBERON:0010708", - "HP:0001155", - "UPHENO:0088142", - "UBERON:0003606", - "UPHENO:0087006", - "HP:0006265", - "HP:0000079", - "RO:0002577", - "HP:0005922", - "UPHENO:0078606", - "UPHENO:0002896", - "UPHENO:0085873", - "UPHENO:0002647", - "HP:0009815", - "UPHENO:0075195", - "UBERON:0010758", - "BFO:0000040", - "UBERON:0001245", - "UPHENO:0081341", - "UPHENO:0087346", - "HP:0000028", - "UBERON:0015212", - "GO:0031052", - "UBERON:0013702", - "UBERON:0002101", - "HP:0000078", - "GO:0006325", - "UPHENO:0002839", - "UBERON:0009569", - "UBERON:0013701", - "UBERON:0011143", - "UBERON:0001009", - "UPHENO:0002832", - "HP:0010946", - "HP:0012210", - "UBERON:0004054", - "UPHENO:0086700", - "UBERON:0004375", - "GO:0005623", - "GO:0009889", - "UPHENO:0031839", - "GO:0071824", - "UPHENO:0002642", - "HP:0000027", - "UPHENO:0002332", - "UPHENO:0076727", - "UPHENO:0063629", - "UPHENO:0002803", - "UPHENO:0075949", - "GO:0009890", - "GO:0016043", - "HP:0025031", - "HP:0012718", - "UPHENO:0002378", - "UPHENO:0005597", - "HP:0003011", - "UPHENO:0020950", - "UBERON:0008837", - "UBERON:0000153", - "UPHENO:0084761", - "UPHENO:0052178", - "NCBITaxon:2759", - "UBERON:0000468", - "UBERON:0004907", - "UPHENO:0087802", - "UBERON:0000489", - "HP:0001197", - "HP:0002818", - "HP:0002250", - "UBERON:0000916", - "UBERON:0010000", - "HP:0001939", - "UBERON:0004489", - "UBERON:0004122", - "HP:0000001", - "UPHENO:0076783", - "UPHENO:0075902", - "HP:0012732", - "UPHENO:0002725", - "GO:0050794", - "HP:0012622", - "UBERON:0011216", - "UPHENO:0063632", - "HP:0000083", - "GO:0031327", - "HP:0009127", - "UBERON:0000465", - "UPHENO:0087547", - "UPHENO:0012274", - "UBERON:0000062", - "UPHENO:0026181", - "BFO:0000003", - "HP:0005927", - "HP:0006496", - "UBERON:0002100", - "UPHENO:0050113", - "UPHENO:0001001", - "UPHENO:0049700", - "HP:0006501", - "GO:1901360", - "UPHENO:0076779", - "UBERON:0004921", - "UBERON:5006048", - "UBERON:0001008", - "GO:0043933", - "GO:0010556", - "UPHENO:0081792", - "UPHENO:0087427", - "GO:0043170", - "UBERON:0012141", - "UPHENO:0080126", - "UBERON:0005172", - "GO:0046483", - "UBERON:0001440", - "GO:0034641", - "UBERON:0012475", - "UBERON:0000481", - "HP:0011314", - "UBERON:0005173", - "UPHENO:0049874", - "PATO:0000001", - "UPHENO:0086172", - "BFO:0000004", - "UPHENO:0052778", - "UPHENO:0079872", - "UBERON:0002417", - "HP:0025354", - "UPHENO:0049873", - "UPHENO:0049748", - "GO:0065007", - "UBERON:0001423", - "UPHENO:0086201", - "UBERON:0002513", - "UBERON:0000475", - "UBERON:0006058", - "GO:0006996", - "UBERON:0000477", - "UPHENO:0081433", - "HP:0001421", - "UPHENO:0081466", - "UPHENO:0076703", - "GO:0019222", - "UBERON:0001015", - "UPHENO:0001005", - "UPHENO:0086198", - "UBERON:0036295", - "UBERON:0005881", - "GO:0048232", - "UPHENO:0081204", - "HP:0011297", - "UPHENO:0075696", - "GO:0050789", - "UPHENO:0050121", - "HP:0000118", - "HP:0002813", - "UBERON:0000463", - "UPHENO:0001003", - "HP:0003220", - "UBERON:0000026", - "UPHENO:0050845", - "HP:0011017", - "GO:0071840", - "HP:0011805", - "GO:0044237", - "HP:0000035", - "GO:0031326", - "UBERON:0006048", - "UPHENO:0005433", - "BFO:0000002", - "GO:0008152", - "GO:0010605", - "UBERON:0001460", - "GO:0031324", - "UBERON:8450002", - "GO:0010558", - "UBERON:0004708", - "CL:0000019", - "HP:0009821", - "UPHENO:0012541", - "GO:0009892", - "BFO:0000015", - "UPHENO:0080079", - "UBERON:0011582", - "UPHENO:0063599", - "UPHENO:0087846", - "UBERON:0001434", - "UPHENO:0002536", - "GO:0009987", - "GO:0090304", - "UBERON:0004535", - "HP:0000119", - "UBERON:0004111", - "HP:0100871", - "UBERON:0000061", - "GO:0060255", - "UPHENO:0049990", - "BFO:0000001", - "UPHENO:0020584", - "UPHENO:0084132", - "UPHENO:0002880", - "UBERON:0000467", - "HP:0040012", - "GO:0048523", - ], - "has_phenotype_closure_label": [ - "Abnormal renal physiology", - "Abnormality of the urinary system physiology", - "Stage 5 chronic kidney disease", - "Chronic kidney disease", - "non-functional anatomical entity", - "abnormal anus morphology", - "abnormal anus", - "anus", - "Abnormality of the anus", - "orifice", - "Abnormal anus morphology", - "abnormal size of multicellular organism", - "growth", - "decreased height of the anatomical entity", - "decreased size of the multicellular organism", - "abnormality of anatomical entity height", - "delayed growth", - "Growth delay", - "Abnormality of body height", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "delayed biological_process", - "External genital hypoplasia", - "cardiovascular system", - "abnormal cardiovascular system morphology", - "circulatory organ", - "viscus", - "thoracic segment organ", - "thoracic segment of trunk", - "heart plus pericardium", - "Abnormality of cardiovascular system morphology", - "abnormal cardiovascular system", - "primary circulatory organ", - "structure with developmental contribution from neural crest", - "Deviation of finger", - "Deviation of the hand or of fingers of the hand", - "Short finger", - "decreased length of manual digit", - "decreased length of manual digit 1", - "Short digit", - "decreased length of digit", - "Abnormal reproductive system morphology", - "abnormality of kidney physiology", - "decreased biological_process", - "abnormality of male reproductive system physiology", - "semen", - "developmental process", - "reproduction", - "multicellular organismal process", - "Abnormal testis morphology", - "sexual reproduction", - "developmental process involved in reproduction", - "multicellular organismal reproductive process", - "abnormal reproductive process", - "decreased qualitatively developmental process", - "absent anatomical entity in the semen", - "Short thumb", - "germ line cell", - "gamete generation", - "changed developmental process rate", - "spermatogenesis", - "absent sperm", - "abnormally localised testis", - "abnormal multicellular organismal reproductive process", - "absent gamete", - "reproductive organ", - "organism substance", - "Functional abnormality of male internal genitalia", - "decreased spermatogenesis", - "abnormal male reproductive system", - "absent sperm in the semen", - "obsolete multicellular organism reproduction", - "Azoospermia", - "Abnormality of the male genitalia", - "ectoderm-derived structure", - "male gamete", - "abnormality of reproductive system physiology", - "abnormality of anatomical entity physiology", - "sperm", - "external genitalia", - "gonad", - "male organism", - "abnormal reproductive system morphology", - "abnormal male reproductive organ morphology", - "decreased qualitatively biological_process", - "Abnormal spermatogenesis", - "abnormal internal genitalia", - "external male genitalia", - "testis", - "Abnormality of the genital system", - "decreased qualitatively reproductive process", - "Cryptorchidism", - "abnormally localised anatomical entity", - "decreased developmental process", - "abnormal heart morphology", - "abnormal external genitalia", - "abnormal male reproductive system morphology", - "renal pelvis/ureter", - "Abnormal renal pelvis morphology", - "reproductive process", - "Small thenar eminence", - "Fetal anomaly", - "biological_process", - "protein-containing material entity", - "subdivision of skeleton", - "increased size of the anatomical entity in independent continuant", - "appendage musculature", - "digit 1", - "abnormally dilated anatomical entity", - "increased size of the anatomical entity", - "Proximal placement of thumb", - "abnormal renal pelvis", - "anterior region of body", - "renal pelvis", - "autopodial skeleton", - "cellular component organization or biogenesis", - "Phenotypic abnormality", - "abnormal digit morphology", - "Abnormal large intestine morphology", - "abnormally dilated renal pelvis", - "absent anatomical entity", - "abnormal cellular metabolic process", - "rectum", - "acropodium region", - "Finger aplasia", - "digitopodium region", - "skeleton", - "Absent thumb", - "Abnormal digit morphology", - "aplasia or hypoplasia of manual digit", - "autopodial extension", - "Abnormality of reproductive system physiology", - "digit plus metapodial segment", - "Renal insufficiency", - "manual digitopodium region", - "Abnormal heart morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Forearm undergrowth", - "Aplasia/Hypoplasia of fingers", - "abnormal reproductive system", - "reproductive structure", - "male reproductive organ", - "Abnormal rectum morphology", - "manual digit 1 or 5", - "digit 1 or 5", - "absent manual digit", - "abnormal digit", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "aplastic anatomical entity", - "agenesis of anatomical entity", - "manual digit", - "rectum atresia", - "Abnormal fetal genitourinary system morphology", - "manual digit 1 plus metapodial segment", - "paired limb/fin skeleton", - "Abnormal appendicular skeleton morphology", - "radius bone hypoplasia", - "Aplasia/hypoplasia involving the skeleton", - "palmar/plantar part of autopod", - "Abnormality of male external genitalia", - "Short long bone", - "mesoderm-derived structure", - "phenotype", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "continuant", - "regulation of macromolecule metabolic process", - "aplastic manual digit 1", - "abnormal rectum", - "abnormal limb long bone morphology", - "endochondral element", - "abnormal cell", - "bone element", - "skeleton of limb", - "forelimb zeugopod skeleton", - "male reproductive system", - "limb bone", - "abnormal forelimb zeugopod bone", - "abnormal limb bone morphology", - "abnormal forelimb zeugopod morphology", - "abnormal limb bone", - "Aplasia/hypoplasia of the extremities", - "decreased length of forelimb zeugopod bone", - "Abnormal long bone morphology", - "skeleton of pectoral complex", - "abnormal cellular component organization", - "appendicular skeletal system", - "Aplasia/hypoplasia involving forearm bones", - "external soft tissue zone", - "Abnormal skeletal morphology", - "musculature of upper limb", - "anatomical collection", - "zeugopod", - "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "abnormal bone of pectoral complex morphology", - "aplasia or hypoplasia of skeleton", - "forelimb bone", - "limb long bone", - "trunk", - "digit 1 plus metapodial segment", - "radius endochondral element", - "Deviation of the thumb", - "skeletal element", - "Abnormal upper limb bone morphology", - "digit", - "abdominal segment of trunk", - "Abnormality of the skeletal system", - "bone of free limb or fin", - "Abnormal morphology of the radius", - "arm bone", - "radius bone", - "obsolete cellular nitrogen compound metabolic process", - "Abnormality of prenatal development or birth", - "decreased length of anatomical entity in independent continuant", - "endochondral bone", - "upper urinary tract", - "skeletal system", - "internal genitalia", - "anatomical cluster", - "circulatory system", - "subdivision of skeletal system", - "Hypoplasia of the radius", - "decreased length of long bone", - "Limb undergrowth", - "abnormal developmental process", - "Abnormality of limb bone morphology", - "Abnormal forearm morphology", - "abnormal large intestine morphology", - "abnormal growth", - "increased size of the renal pelvis", - "organism", - "Short stature", - "Rectal atresia", - "Abnormality of limb bone", - "Neoplasm by anatomical site", - "Aplasia/hypoplasia involving bones of the hand", - "Morphological abnormality of the gastrointestinal tract", - "large intestine", - "Abnormal male reproductive system physiology", - "gamete", - "organ part", - "Abnormality of the digestive system", - "Abnormal skeletal muscle morphology", - "Abnormality of the gastrointestinal tract", - "anal region", - "Intestinal atresia", - "alimentary part of gastrointestinal system", - "Neoplasm", - "abnormal location of anatomical entity", - "Abnormality of the musculature of the upper limbs", - "abnormal digestive system", - "subdivision of digestive tract", - "decreased length of anatomical entity", - "abnormal digestive system morphology", - "abnormal external male genitalia", - "late embryo", - "digestive tract", - "material entity", - "abnormal closing of the anatomical entity", - "long bone", - "Abnormal internal genitalia", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Eukaryota", - "Abnormal finger morphology", - "abnormal manual digit 1 morphology", - "abnormal alimentary part of gastrointestinal system", - "Anal atresia", - "abnormal gamete", - "Fetal ultrasound soft marker", - "forelimb zeugopod bone hypoplasia", - "tube", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", - "Abnormality of the cardiovascular system", - "Abnormal cellular physiology", - "abnormal biological_process", - "multi-tissue structure", - "biological regulation", - "organ system subdivision", - "process", - "main body axis", - "aplasia or hypoplasia of radius bone", - "cellular organisms", - "absent anatomical entity in the independent continuant", - "subdivision of organism along appendicular axis", - "male gamete generation", - "zeugopodial skeleton", - "abnormal anatomical entity", - "paired limb/fin", - "Gastrointestinal atresia", - "Metazoa", - "pectoral appendage", - "thenar eminence", - "Short forearm", - "abnormal intestine morphology", - "male germ cell", - "lateral structure", - "limb", - "paired limb/fin segment", - "Hydronephrosis", - "abnormal manus", - "Dilatation of the renal pelvis", - "abnormal manual digit morphology in the independent continuant", - "anatomical entity atresia", - "abnormal arm", - "Abnormality of the musculature of the hand", - "decreased size of the anatomical entity in the pectoral complex", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "root", - "haploid cell", - "Abnormal renal morphology", - "Abnormality of limbs", - "abnormal alimentary part of gastrointestinal system morphology", - "multi-limb segment region", - "disconnected anatomical group", - "thenar eminence hypoplasia", - "Abnormal intestine morphology", - "abnormal forelimb morphology", - "organ", - "protein-DNA complex organization", - "trunk region element", - "pectoral complex", - "abnormal thenar eminence", - "abnormal musculature of manus", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormality of the thenar eminence", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the hand", - "subdivision of organism along main body axis", - "abnormal muscle organ morphology", - "Non-obstructive azoospermia", - "absent anatomical entity in the multicellular organism", - "abnormal number of anatomical enitites of type cell", - "abnormal anatomical entity length", - "Abnormality of the musculoskeletal system", - "abnormal rectum morphology", - "abnormally localised anatomical entity in independent continuant", - "musculoskeletal system", - "decreased size of the anatomical entity", - "compound organ", - "autopod region", - "abnormal spatial pattern of anatomical entity", - "abnormal limb", - "Abnormal hand morphology", - "forelimb long bone", - "cell", - "phenotype by ontology source", - "abnormal manus morphology", - "abnormal cellular process", - "regulation of biosynthetic process", - "abnormal musculature of upper limb", - "pectoral appendage musculature", - "digestive system", - "musculature", - "forelimb skeleton", - "musculature of body", - "bone of appendage girdle complex", - "muscle organ", - "anatomical entity hypoplasia in independent continuant", - "digestive system element", - "non-functional kidney", - "abnormal size of anatomical entity", - "Opisthokonta", - "abnormal palmar part of manus morphology", - "abnormal late embryo", - "manual digit 1", - "Abnormality of the musculature of the limbs", - "manual digit plus metapodial segment", - "limb skeleton subdivision", - "musculature of limb", - "abnormal musculature of limb", - "negative regulation of macromolecule biosynthetic process", - "Abnormality of the genitourinary system", - "germ cell", - "abnormal spermatogenesis", - "segment of manus", - "musculature of pectoral complex", - "abnormal anatomical entity morphology in the independent continuant", - "multicellular organism", - "abnormality of renal system physiology", - "programmed DNA elimination by chromosome breakage", - "Anorectal anomaly", - "organism subdivision", - "thoracic cavity element", - "Abnormality of the kidney", - "abnormality of internal male genitalia physiology", - "abnormal gamete generation", - "cavitated compound organ", - "abnormal kidney", - "body proper", - "aplasia or hypoplasia of anatomical entity", - "forelimb zeugopod bone", - "quality", - "abdomen element", - "subdivision of trunk", - "genitourinary system", - "negative regulation of cellular biosynthetic process", - "anatomical system", - "palmar part of manus", - "abnormal anatomical entity morphology in the palmar part of manus", - "Aplasia/hypoplasia involving bones of the extremities", - "alimentary part of gastrointestinal system atresia", - "abnormal genitourinary system", - "Renal cyst", - "Abnormal forearm bone morphology", - "regulation of cellular metabolic process", - "regulation of biological process", - "Abnormal thumb morphology", - "arm", - "abnormal limb morphology", - "bone element hypoplasia in independent continuant", - "abnormal anatomical entity morphology", - "primary metabolic process", - "cellular component organization", - "abnormal kidney morphology", - "system", - "negative regulation of macromolecule metabolic process", - "organic substance metabolic process", - "abnormal DNA metabolic process", - "abnormal chromatin organization", - "forelimb", - "embryo", - "appendage", - "musculature of manus", - "material anatomical entity", - "anus atresia", - "abdomen", - "changed biological_process rate", - "abnormal metabolic process", - "abnormal renal pelvis morphology", - "chromatin organization", - "abnormal renal system", - "abnormal musculature", - "abnormal appendicular skeleton morphology", - "Eumetazoa", - "segment of autopod", - "negative regulation of metabolic process", - "nucleobase-containing compound metabolic process", - "abnormal skeletal system morphology", - "obsolete cell", - "deviation of anatomical entity", - "absent sperm in the independent continuant", - "internal male genitalia", - "occurrent", - "regulation of cellular process", - "regulation of gene expression", - "intestine atresia", - "abnormal nitrogen compound metabolic process", - "appendage girdle complex", - "abnormal anatomical entity topology in independent continuant", - "limb segment", - "cellular process", - "forelimb zeugopod", - "cellular metabolic process", - "abnormal skeletal system", - "Abnormal fetal morphology", - "macromolecule metabolic process", - "bone of pectoral complex", - "abnormal upper urinary tract", - "specifically dependent continuant", - "subdivision of tube", - "regulation of metabolic process", - "organic cyclic compound metabolic process", - "obsolete cellular aromatic compound metabolic process", - "abnormal anatomical entity morphology in the manus", - "kidney", - "absent anatomical entity in the forelimb", - "appendicular skeleton", - "All", - "pectoral appendage skeleton", - "Abnormal cellular phenotype", - "abnormal number of anatomical enitites of type sperm", - "Abnormality of the musculature", - "abnormal manual digit morphology in the manus", - "abnormal anatomical entity morphology in the pectoral complex", - "nucleic acid metabolic process", - "decreased size of the anatomical entity in the independent continuant", - "metabolic process", - "decreased size of the radius bone", - "abnormal phenotype by ontology source", - "negative regulation of cellular metabolic process", - "abnormal long bone morphology", - "entity", - "deviation of manual digit 1", - "internal anal region", - "protein-containing complex organization", - "Chromosome breakage", - "Abnormality of the urinary system", - "anatomical structure", - "Abnormality of metabolism/homeostasis", - "intestine", - "abnormal programmed DNA elimination by chromosome breakage", - "lower digestive tract", - "renal system", - "Upper limb undergrowth", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "anatomical conduit", - "deviation of manual digit", - "obsolete nitrogen compound metabolic process", - "Abnormality of the upper urinary tract", - "regulation of cellular biosynthetic process", - "independent continuant", - "abnormal organelle organization", - "excretory system", - "negative regulation of cellular process", - "anatomical entity hypoplasia", - "terminal part of digestive tract", - "Growth abnormality", - "abnormal renal system morphology", - "abnormal developmental process involved in reproduction", - "Abnormal external genitalia", - "muscle structure", - "programmed DNA elimination", - "heart", - "upper limb segment", - "limb endochondral element", - "anatomical entity", - "Abnormal palm morphology", - "abnormal autopod region morphology", - "absent germ cell", - "forelimb endochondral element", - "DNA metabolic process", - "manus", - "abnormal primary metabolic process", - "reproductive system", - "abnormal testis morphology", - "Fetal pyelectasis", - "negative regulation of biosynthetic process", - "absent digit", - "abdominal segment element", - "obsolete heterocycle metabolic process", - "organelle organization", - "absent anatomical entity in the limb", - "Abnormality of the upper limb", - "Abnormality of digestive system morphology", - "negative regulation of biological process", - "negative regulation of gene expression", - ], - }, - { - "id": "MONDO:0013499", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group P", - "xref": ["DOID:0111092", "GARD:15731", "OMIM:613951"], - "provided_by": "phenio_nodes", - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.", - "synonym": [ - "FANCP", - "Fanconi Anemia, complementation group type P", - "Fanconi anaemia caused by mutation in SLX4", - "Fanconi anaemia caused by mutation in Slx4", - "Fanconi anaemia complementation group type P", - "Fanconi anemia caused by mutation in SLX4", - "Fanconi anemia caused by mutation in Slx4", - "Fanconi anemia complementation group type P", - "Fanconi anemia, complementation group P", - "SLX4 Fanconi anaemia", - "SLX4 Fanconi anemia", - "Slx4 Fanconi anaemia", - "Slx4 Fanconi anemia", - ], - "namespace": "MONDO", - "has_phenotype": [ + "HP:0200005", + "UPHENO:0065599", "HP:0000252", - "HP:0002860", - "HP:0002984", - "HP:0009777", - "HP:0000581", - "HP:0001510", - "HP:0001876", - "HP:0000347", - "HP:0009778", - "HP:0000414", - "HP:0000957", - "HP:0001903", - "HP:0012745", - "HP:0000085", - "HP:0003221", - "HP:0004322", - "HP:0000365", - "HP:0000028", - "HP:0000125", - "HP:0001045", - ], - "has_phenotype_label": [ - "Microcephaly", - "Squamous cell carcinoma", - "Hypoplasia of the radius", - "Absent thumb", - "Blepharophimosis", - "Growth delay", - "Pancytopenia", - "Micrognathia", - "Short thumb", - "Bulbous nose", - "Cafe-au-lait spot", - "Anemia", - "Short palpebral fissure", - "Horseshoe kidney", - "Chromosomal breakage induced by crosslinking agents", - "Short stature", - "Hearing impairment", - "Cryptorchidism", - "Pelvic kidney", - "Vitiligo", - ], - "has_phenotype_count": 20, - "has_phenotype_closure": [ - "HP:0001045", - "UPHENO:0081755", - "HP:0008669", - "GO:0007283", - "UPHENO:0053580", - "UPHENO:0050108", - "UPHENO:0049985", - "HP:0000811", - "UBERON:0004053", - "UPHENO:0049970", - "UBERON:0000473", - "CL:0000039", - "CL:0000413", - "UBERON:0000990", - "UPHENO:0086023", - "HP:0012243", - "UPHENO:0086198", - "UPHENO:0085875", - "CL:0000015", - "UBERON:0003101", - "GO:0032502", - "GO:0022414", - "GO:0000003", - "UBERON:0005156", - "UPHENO:0050101", - "UPHENO:0078729", - "UPHENO:0021561", - "GO:0003006", - "GO:0048609", - "HP:0000025", - "UPHENO:0085194", - "UPHENO:0002371", - "UBERON:0003133", - "UBERON:0003135", - "CL:0000300", - "UBERON:0000079", - "UPHENO:0002597", - "UPHENO:0087973", - "UPHENO:0082875", - "HP:0000364", - "UPHENO:0052970", - "UBERON:0002105", - "GO:0050877", - "UPHENO:0005518", + "HP:0003272", + "UBERON:0002472", + "HP:0002977", + "UPHENO:0080200", + "HP:0100886", + "UPHENO:0020888", + "UBERON:0001893", + "UPHENO:0087518", + "UPHENO:0075195", + "UBERON:0005899", + "UPHENO:0085984", "CL:0000586", - "HP:0000598", - "GO:0003008", - "HP:0012874", - "GO:0007600", - "UPHENO:0002240", - "GO:0032504", - "UPHENO:0052231", - "UPHENO:0080351", - "UPHENO:0075159", - "HP:0010461", - "GO:0010468", - "GO:0010558", - "GO:0019222", - "GO:0006139", - "GO:0043170", - "GO:0007605", - "GO:0046483", - "GO:0006725", - "GO:0034641", - "UPHENO:0049990", - "UPHENO:0049873", - "GO:0031049", - "GO:0065007", - "GO:0008152", - "GO:0009987", - "UPHENO:0049748", - "UPHENO:0049700", - "GO:0071840", - "HP:0001939", - "UPHENO:0050113", - "UPHENO:0050121", - "GO:0010556", - "HP:0000035", - "GO:0031326", - "GO:0060255", - "GO:0009892", - "GO:0090304", - "GO:0006996", - "GO:0043933", - "GO:0050789", - "GO:0044238", - "GO:0006807", - "GO:0071704", - "HP:0004322", - "GO:0010629", - "UBERON:0009569", + "UBERON:0012359", + "HP:0004348", + "HP:0002715", + "UPHENO:0086045", + "UBERON:0001449", + "UBERON:0000178", + "HP:0011893", + "HP:0010987", + "HP:0004377", + "UPHENO:0063565", + "HP:0001392", + "UPHENO:0088321", + "UPHENO:0004459", + "UPHENO:0003020", + "UPHENO:0004536", + "UPHENO:0003116", + "UBERON:0002390", + "UPHENO:0088319", + "UBERON:0000949", + "UBERON:0001733", + "UPHENO:0085875", + "UPHENO:0035147", + "UBERON:0002387", + "CL:0000255", + "CL:0000219", + "UPHENO:0002948", + "HP:0001881", + "UBERON:0003113", + "UPHENO:0041212", + "UPHENO:0085410", + "UPHENO:0001440", + "UPHENO:0000541", + "HP:0002031", + "HP:0001373", + "UBERON:0012476", + "UPHENO:0000543", + "UBERON:0002423", + "UBERON:0002365", + "UBERON:0002330", + "HP:0002012", + "UBERON:0015204", + "UPHENO:0080126", "UBERON:0005172", - "UPHENO:0002832", - "HP:0000365", - "HP:0012210", - "UPHENO:0050620", - "UBERON:0004122", - "UBERON:8450002", - "UPHENO:0041075", - "UPHENO:0087427", - "GO:0071824", - "UPHENO:0002642", "UPHENO:0002803", - "UPHENO:0082129", - "UPHENO:0082444", - "UPHENO:0075902", - "UPHENO:0041629", + "HP:0000818", + "UPHENO:0084767", + "UBERON:0000916", "UBERON:0002417", - "UBERON:0002100", - "HP:0100542", - "UPHENO:0080300", - "UBERON:0001008", - "UPHENO:0002595", - "UPHENO:0041821", - "UPHENO:0088162", - "UPHENO:0076779", - "HP:0001903", - "UPHENO:0088170", - "UPHENO:0059829", - "HP:0000953", - "HP:0007400", - "GO:0048523", - "UPHENO:0054970", - "GO:0043473", - "HP:0001034", - "HP:0012733", - "UBERON:0004175", - "UPHENO:0074584", - "HP:0011121", - "UPHENO:0081424", + "NBO:0000417", + "HP:0000924", "UPHENO:0074572", - "HP:0000957", - "UPHENO:0074575", - "UPHENO:0060026", - "UPHENO:0076739", - "UPHENO:0080221", - "UPHENO:0050008", - "UPHENO:0050625", - "UPHENO:0074589", - "HP:0000436", - "UBERON:0006983", - "BFO:0000141", - "UPHENO:0087430", - "GO:0007276", - "UBERON:0007827", - "UPHENO:0087950", - "UPHENO:0085873", - "UBERON:0002268", - "UPHENO:0021517", - "UPHENO:0002907", - "HP:0000366", - "UBERON:0000916", - "HP:0010938", - "UPHENO:0065599", - "HP:0009381", - "HP:0011927", - "UPHENO:0046624", - "UPHENO:0046411", - "HP:0000277", - "HP:0040012", - "UPHENO:0081314", - "UPHENO:0020950", - "HP:0034261", - "HP:0031816", - "UPHENO:0080382", - "UBERON:0007914", - "UBERON:0011595", - "UPHENO:0002378", - "UPHENO:0005597", - "UBERON:0001710", - "UBERON:0004742", - "UPHENO:0081788", - "UPHENO:0076800", - "UBERON:0002514", - "UPHENO:0087802", - "UBERON:0000489", - "UPHENO:0080165", - "UBERON:0003457", - "UBERON:0013765", - "UPHENO:0088168", - "HP:0009116", - "UPHENO:0080352", - "UPHENO:0002828", - "UBERON:0004756", - "UPHENO:0076803", - "GO:0016043", - "GO:0009890", - "HP:0025031", - "HP:0000119", - "UPHENO:0084457", - "HP:0009118", - "GO:0050794", - "HP:0000153", - "UBERON:0010364", - "UBERON:0011158", - "UPHENO:0041465", - "UPHENO:0083646", - "HP:0009122", - "UPHENO:0081141", - "HP:0025033", - "UBERON:0001007", + "UBERON:0006925", + "UBERON:0002368", "CL:0000408", - "CL:0000329", - "UBERON:0013522", - "UPHENO:0003055", - "UPHENO:0075220", - "UPHENO:0000541", - "UPHENO:0087339", - "UBERON:0002193", - "UPHENO:0084928", - "UPHENO:0087355", "UBERON:0005173", - "HP:0011893", - "UPHENO:0004459", - "HP:0000078", - "GO:0006325", - "CL:0002242", - "GO:0009889", - "CL:0000219", - "UBERON:0000463", - "UPHENO:0001003", + "HP:0002624", + "UBERON:0002530", + "UPHENO:0002844", + "UPHENO:0075995", + "UBERON:0004092", + "UBERON:0000466", + "UBERON:0008785", + "UBERON:0000015", + "UPHENO:0052675", + "HP:0000316", + "UPHENO:0042834", + "UPHENO:0072195", + "HP:0002814", + "UBERON:0006800", + "UPHENO:0049367", + "UPHENO:0052231", + "UPHENO:0081594", + "NCBITaxon:1", + "UPHENO:0021474", + "UPHENO:0087597", + "UBERON:0002114", + "UPHENO:0076748", + "UBERON:0012152", + "UPHENO:0078375", + "UBERON:0010696", + "NBO:0000444", + "UPHENO:0081344", + "UBERON:0000063", + "HP:0008056", + "UBERON:0007273", + "HP:0002270", + "UBERON:0015022", + "UPHENO:0086866", + "UBERON:0001445", + "HP:0011297", + "UBERON:0004248", + "GO:0043473", + "UBERON:0012142", + "UBERON:0010758", + "UBERON:0001890", + "UPHENO:0081091", + "HP:0010674", + "HP:0001217", + "UPHENO:0078125", + "UPHENO:0087369", + "UPHENO:0082444", + "HP:0001639", + "UPHENO:0002896", + "UPHENO:0076806", + "HP:0040072", + "UBERON:0004053", + "UBERON:0001441", + "UBERON:0015023", + "UPHENO:0081575", + "UBERON:0001711", + "UBERON:0003221", + "UPHENO:0002964", + "UPHENO:0088140", + "UBERON:0006314", + "UPHENO:0041821", + "HP:0100760", + "UBERON:0010709", + "UBERON:0005440", + "HP:0001882", + "UPHENO:0002905", + "UPHENO:0084654", + "UBERON:0001769", + "UBERON:5002544", + "UBERON:0000154", + "HP:0031653", + "UBERON:0004122", + "HP:0009826", + "UPHENO:0033616", + "HP:0001384", + "CL:0000763", + "UPHENO:0049586", + "UBERON:0010742", + "HP:0004349", + "HP:0040068", + "UBERON:0002470", + "UBERON:0012139", + "HP:0001824", + "UBERON:0004709", + "UPHENO:0033603", + "UBERON:0001466", + "UBERON:0000978", + "UPHENO:0087123", + "HP:0000077", + "UBERON:0002199", + "UBERON:0002137", + "UBERON:0011143", + "UBERON:0007842", + "UBERON:0002113", + "HP:0001199", + "UPHENO:0000996", + "UBERON:0005881", + "UPHENO:0076779", + "UBERON:0001846", + "UBERON:0002217", + "UBERON:0007375", + "UBERON:0034768", + "UPHENO:0081570", + "UPHENO:0076786", + "UBERON:0001703", + "UPHENO:0078215", + "UBERON:0002553", + "HP:0031816", + "UPHENO:0075843", + "HP:0000172", + "UBERON:0012240", + "UBERON:0001734", + "UBERON:0005944", + "UBERON:0000079", + "UBERON:0001716", + "UBERON:0004089", + "UPHENO:0088088", + "HP:0008678", + "HP:0012372", + "UBERON:0005179", + "UPHENO:0080221", + "HP:0001034", + "HP:0012210", + "UPHENO:0059829", + "UPHENO:0074575", + "HP:0000309", + "UPHENO:0082682", + "UBERON:0001359", + "UPHENO:0074584", + "UBERON:0000167", + "UBERON:0001442", + "UPHENO:0078736", + "HP:0031105", + "UBERON:0002416", + "HP:0008053", + "UPHENO:0022529", + "UPHENO:0054957", + "UPHENO:0084511", + "UPHENO:0066927", + "UBERON:0010000", + "UBERON:0010230", + "HP:0011121", + "UPHENO:0080601", + "UPHENO:0086172", + "UPHENO:0074589", "CL:0000225", + "UPHENO:0054970", + "UPHENO:0049940", + "UPHENO:0084761", + "UBERON:0002384", + "UBERON:0012141", + "CL:0000151", + "HP:0001510", "HP:0001167", - "CL:0000988", - "HP:0020047", - "UPHENO:0086172", - "UPHENO:0081091", - "UPHENO:0084987", - "HP:0032251", - "HP:0000079", - "RO:0002577", - "HP:0001881", - "UBERON:0001690", - "UPHENO:0063722", - "GO:0031327", - "HP:0001872", - "GO:0031324", - "UPHENO:0086173", - "GO:0019953", - "CL:0000764", - "HP:0000077", + "UPHENO:0085302", "UPHENO:0080114", - "UBERON:0001474", - "UBERON:0002371", - "HP:0011875", - "HP:0000271", + "UPHENO:0084766", + "UPHENO:0080201", + "UBERON:0003101", + "HP:0001155", + "HP:0045060", + "HP:0008373", + "HP:0005927", "UPHENO:0085371", - "GO:1901360", - "HP:0011873", - "HP:0011314", - "UPHENO:0085984", - "HP:0001507", - "HP:0001871", - "HP:0010935", - "UBERON:0002398", - "UPHENO:0088166", - "HP:0001876", - "UPHENO:0085344", - "UBERON:0002616", - "UPHENO:0076675", - "UPHENO:0075878", - "CL:0000232", - "CL:0000081", - "CL:0000738", - "UPHENO:0077426", - "GO:0040007", - "GO:0010605", - "HP:0032039", - "UPHENO:0076799", - "UBERON:0000020", - "GO:0050954", - "UBERON:0007842", - "UBERON:0004456", - "CL:0000458", - "HP:0030669", - "UBERON:0004708", - "CL:0000457", - "UPHENO:0084715", - "UBERON:0000161", - "HP:0005561", - "CL:0000763", - "UBERON:5006048", - "UPHENO:0054577", - "UBERON:0001711", - "HP:0011017", - "HP:0012745", - "UBERON:0001819", - "CL:0002092", - "HP:0000315", - "UPHENO:0034770", - "UPHENO:0075997", - "UPHENO:0046753", - "UBERON:0010707", - "UPHENO:0002833", - "UBERON:0001032", - "UPHENO:0075198", - "UBERON:0004054", - "UPHENO:0086700", - "UBERON:0002199", - "UBERON:5002544", - "UPHENO:0003085", - "UBERON:5001463", - "HP:0009380", - "UPHENO:0084448", - "UPHENO:0049587", - "UBERON:0002470", - "UPHENO:0084727", - "UBERON:0012360", + "UPHENO:0076723", + "UPHENO:0084653", + "UBERON:0005451", + "HP:0005922", + "UPHENO:0082671", + "UPHENO:0078179", + "HP:0011849", + "HP:0010469", + "UBERON:0008202", + "UPHENO:0082834", + "HP:0004209", + "UPHENO:0087203", + "UPHENO:0082835", + "UBERON:0002412", + "GO:0001503", + "HP:0011446", + "HP:0030084", + "HP:0000377", + "HP:0004097", + "UBERON:0012357", + "UPHENO:0084842", + "HP:0009824", + "UPHENO:0080369", + "UPHENO:0084829", + "HP:0000864", + "UPHENO:0086150", + "UPHENO:0076736", + "HP:0009179", + "UBERON:5003625", + "UBERON:0012180", + "UPHENO:0068971", "UPHENO:0081790", + "HP:0200007", + "HP:0009821", + "UPHENO:0012274", + "UPHENO:0012541", + "UPHENO:0053580", + "HP:0040019", + "UPHENO:0069293", + "UBERON:0010425", + "UBERON:0007823", + "UPHENO:0001001", + "UPHENO:0087892", + "UPHENO:0060026", + "HP:0001367", + "HP:0000504", + "UPHENO:0002813", + "UPHENO:0087980", + "UBERON:0001457", + "UBERON:0008907", + "UPHENO:0079871", + "NBO:0000313", + "HP:0002827", + "UBERON:0000982", + "UBERON:0005913", + "UBERON:0001271", + "UBERON:0003828", + "UPHENO:0075945", + "UBERON:0003463", + "UPHENO:0086088", + "HP:0001903", + "UPHENO:0076767", + "UBERON:0001464", + "UBERON:0008114", + "UBERON:0007828", + "UBERON:0003840", + "UPHENO:0087974", + "UBERON:0004770", + "HP:0002644", + "UBERON:5002389", + "UPHENO:0087558", + "HP:0000271", + "UBERON:0005893", + "UBERON:0001712", + "UBERON:0001950", + "UBERON:0003826", + "UBERON:0016526", + "UPHENO:0010795", + "UBERON:0001805", + "HP:0002251", + "UBERON:0004121", + "HP:0000525", + "UPHENO:0088183", + "UPHENO:0020258", + "UPHENO:0087121", + "UBERON:0002410", + ], + "has_phenotype_closure_label": [ + "decreased biological_process in multicellular organism", + "decreased qualitatively pigmentation in independent continuant", + "Hypopigmentation of the skin", + "decreased qualitatively biological_process in independent continuant", + "decreased biological_process in skin of body", + "decreased biological_process in independent continuant", + "Thrombocytopenia", + "Abnormal platelet count", + "abnormally decreased number of platelet", + "abnormally decreased number of myeloid cell", + "abnormal blood cell", + "abnormal platelet", + "anucleate cell", + "secretory cell", + "obsolete cell", + "Abnormality of chromosome stability", + "Abnormal cellular physiology", + "decreased size of the multicellular organism", + "Abnormality of body height", + "serotonin secreting cell", + "abnormal size of multicellular organism", + "erythrocyte differentiation", + "myeloid cell differentiation", + "hemopoiesis", + "cellular developmental process", + "abnormal erythroid lineage cell morphology", + "erythroid lineage cell", + "Sideroblastic anemia", + "Abnormal myeloid cell morphology", + "immune system process", + "cellular process", + "homeostatic process", + "abnormal myeloid cell morphology", + "erythrocyte", + "myeloid cell", + "blood cell", + "abnormal erythrocyte morphology", + "Pyridoxine-responsive sideroblastic anemia", + "erythrocyte homeostasis", + "homeostasis of number of cells", + "oxygen accumulating cell", + "Anemia of inadequate production", + "radius bone", + "Abnormal morphology of the radius", + "aplasia or hypoplasia of radius bone", + "abnormal radius bone morphology", + "Neurodevelopmental delay", + "abnormal size of palpebral fissure", + "decreased length of palpebral fissure", + "Abnormal size of the palpebral fissures", + "Abnormality of immune system physiology", + "abnormality of immune system physiology", + "abnormally localised testis", + "abnormally localised anatomical entity in independent continuant", + "Cryptorchidism", + "ureter", + "Abnormal ureter morphology", + "Abnormality of the ureter", + "abnormal ureter morphology", + "Abnormal renal physiology", + "Hypopigmented skin patches", + "Abnormality of the urinary system physiology", + "abnormally decreased functionality of the gonad", + "Cleft palate", + "Craniofacial cleft", + "increased height of the anatomical entity", + "increased height of anatomical entity in independent continuant", + "High palate", + "Increased head circumference", + "increased size of the head", + "increased length of the epicanthal fold", + "upper eyelid", + "zone of skin", + "Epicanthus", + "skin of head", + "head or neck skin", + "abnormal skin of face morphology", + "skin of face", + "abnormal asymmetry of anatomical entity", + "abnormal shape of forehead", + "sloped anatomical entity", + "abnormal facial skeleton morphology", + "Hypoplastic facial bones", + "facial skeleton", + "facial bone", + "mandible", + "anatomical entity hypoplasia in face", + "bone of lower jaw", + "mandible hypoplasia", + "abnormal mandible morphology", + "Abnormal mandible morphology", + "lower jaw region", + "facial bone hypoplasia", + "decreased size of the mandible", + "bone element hypoplasia in face", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "decreased qualitatively sensory perception of mechanical stimulus", + "sloped forehead", + "sensory perception of mechanical stimulus", + "decreased sensory perception of sound", + "abnormal sensory perception of sound", + "Hearing abnormality", + "sensory perception of sound", + "decreased qualitatively sensory perception of sound", + "Abnormal conjugate eye movement", + "Strabismus", + "sensory perception of light stimulus", + "abnormal sensory perception of light stimulus", + "abnormal sensory perception", + "decreased qualitatively visual perception", + "visual perception", + "abnormally protruding eyeball of camera-type eye", + "cell development", + "abnormal size of eyeball of camera-type eye", + "Abnormality of globe size", + "Abnormality of eye movement", + "cranial nerve related reflex", + "Abnormal vestibulo-ocular reflex", + "Abnormal vestibular function", + "abnormality of ear physiology", + "abnormal eye movement", + "abnormal physiologic nystagmus", + "eye movement", + "abnormal vestibulo-ocular reflex", + "shape uterus", + "abnormal uterus", + "female organism", + "internal female genitalia", + "abnormal internal female genitalia morphology", + "Abnormality of the female genitalia", + "Aplasia/Hypoplasia of facial bones", + "bicornuate uterus", + "abnormal female reproductive system", + "oviduct", + "bicornuate anatomical entity", + "uterus", + "Abnormality of the uterus", + "abnormal anatomical entity morphology in the skeleton of manus", + "Abnormality of thumb phalanx", + "manual digitopodium bone", + "manual digit 1 phalanx", + "digit 1", + "Abnormal finger phalanx morphology", + "manus bone", + "excretory tube", + "manual digit 1 phalanx endochondral element", + "abnormal incomplete closing of the secondary palate", + "phalanx of manus", + "manual digit 1 digitopodial skeleton", + "abnormal visual perception", + "abnormal phalanx of manus morphology", + "abnormal manual digit 1 morphology", + "Triphalangeal thumb", + "manual digit 1", + "abnormal female reproductive system morphology", + "digit 1 digitopodial skeleton", + "skeleton of manual acropodium", + "skeleton of manual digitopodium", + "Bicornuate uterus", + "abnormal behavior", + "body part movement", + "neuromuscular process", + "voluntary musculoskeletal movement", + "kinesthetic behavior", + "increased qualitatively response to stimulus", + "abnormal voluntary musculoskeletal movement", + "Hyperreflexia", + "reflex", + "Abnormality of movement", + "Recurrent urinary tract infections", + "involuntary movement behavior", + "multicellular organismal movement", + "abnormal response to external stimulus", + "decreased embryo development", + "abnormal embryo development", + "Abnormal umbilicus morphology", + "Hernia", + "Hernia of the abdominal wall", + "Abnormality of connective tissue", + "abnormal umbilicus morphology", + "abnormal incomplete closing of the abdominal wall", + "Abnormality of the abdominal wall", + "umbilicus", + "connective tissue", + "herniated anatomical entity", + "herniated abdominal wall", + "response to external stimulus", + "Abnormality of the amniotic fluid", + "abnormal amniotic fluid", + "Abnormality of prenatal development or birth", + "Renal insufficiency", + "late embryo", + "Oligohydramnios", + "amniotic fluid", + "interatrial septum", + "abnormal cardiac atrium morphology in the independent continuant", + "Abnormal atrial septum morphology", + "abnormal cardiac atrium morphology", + "abnormal interatrial septum morphology", + "Abnormal ventricular septum morphology", + "metabolic process", + "Abnormal cardiac septum morphology", + "increased size of the heart right ventricle", + "interventricular septum", + "abnormal hematopoietic cell morphology", + "Abnormal connection of the cardiac segments", + "abnormally increased volume of anatomical entity", + "Ventricular hypertrophy", + "abnormal pulmonary valve morphology", + "Global developmental delay", + "reflexive behavior", + "Right ventricular hypertrophy", + "cardiac septum", + "Abnormal pulmonary valve physiology", + "abnormality of cardiovascular system physiology", + "skin of eyelid", + "Aplasia/Hypoplasia of the mandible", + "abnormal size of heart right ventricle", + "abnormal cardiac septum morphology", + "hypertrophic cardiac ventricle", + "hypertrophic heart right ventricle", + "Abnormal myocardium morphology", + "layer of muscle tissue", + "abnormal myocardium morphology", + "heart layer", + "abnormal abdominal wall", + "embryonic cardiovascular system", + "heart vasculature", + "response to stimulus", + "ductus arteriosus", + "abnormal coronary vessel morphology", + "abnormal number of anatomical enitites of type myeloid cell", + "thoracic segment blood vessel", + "coronary vessel", + "Patent ductus arteriosus", + "decreased pigmentation in multicellular organism", + "Congenital malformation of the great arteries", + "aplasia or hypoplasia of mandible", + "trunk blood vessel", + "abnormal incomplete closing of the ductus arteriosus", + "vasculature of organ", + "abnormal female reproductive organ morphology", + "abnormally decreased functionality of the anatomical entity", + "vasculature of trunk", + "heart blood vessel", + "bone of jaw", + "aortic system", + "aorta", + "great vessel of heart", + "Abnormal aortic morphology", + "flattened anatomical entity", + "longitudinal arch of pes", + "flattened anatomical entity in independent continuant", + "shape longitudinal arch of pes", + "Pes planus", + "flat anatomical entity", + "abnormally fused anatomical entity and pedal digit", + "Toe syndactyly", + "manual digit 1 plus metapodial segment", + "abnormal cerebral hemisphere morphology", + "neurocranium bone", + "vault of skull", + "female reproductive system", + "dermal skeleton", + "primary subdivision of skull", + "primary subdivision of cranial skeletal system", + "gray matter", + "dermal bone", + "aplasia or hypoplasia of skull", + "frontal lobe", + "pallium", + "neurocranium", + "cranial bone", + "bone of craniocervical region", + "intramembranous bone", + "membrane bone", + "Hearing impairment", + "abnormal neurocranium morphology", + "abnormal head bone morphology", + "abnormal shape of frontal cortex", + "abnormality of internal ear physiology", + "abnormal tetrapod frontal bone morphology", + "abnormal vault of skull", + "Puberty and gonadal disorders", + "central nervous system cell part cluster", + "lobe of cerebral hemisphere", + "cerebral hemisphere", + "forehead", + "abnormal great vessel of heart morphology", + "frontal cortex", + "abnormal response to stimulus", + "embryo development ending in birth or egg hatching", + "Abnormal form of the vertebral bodies", + "outflow part of left ventricle", + "vertebral column", + "vertebra", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "Abnormal heart valve morphology", + "abnormal neural tube morphology", + "anatomical structure formation involved in morphogenesis", + "abnormal aortic valve morphology", + "tube formation", + "neural tube", + "presumptive structure", + "Abnormality of the inner ear", + "abnormal vertebral column morphology", + "face", + "aplasia or hypoplasia of manual digit", + "Abnormality of the vasculature", + "non-functional anatomical entity", + "Abnormal vertebral morphology", + "Vertebral arch anomaly", + "epithelium development", + "abnormal head", + "arterial system", + "Decreased bone element mass density", + "abnormal systemic arterial system morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal common carotid artery plus branches morphology", + "jaw region", + "artery", + "abnormal anatomical entity mass density", + "Spinal dysraphism", + "decreased qualitatively pigmentation", + "decreased multicellular organism mass", + "innominate bone", + "gray matter of forebrain", + "heart plus pericardium", + "Pulmonic stenosis", + "Abnormal peripheral nervous system morphology", + "Atypical behavior", + "Abnormal upper limb bone morphology", + "chemosensory system", + "abnormally decreased number of anatomical entity", + "Abnormality of the orbital region", + "roof of mouth", + "paralysed cranial nerve", + "Abnormal cranial nerve physiology", + "male germ cell", + "Aplasia/Hypoplasia of the uvula", + "Ocular anterior segment dysgenesis", + "decreased height of the multicellular organism", + "abnormal anatomical entity morphology in the pelvic complex", + "abnormal neocortex morphology", + "decreased biological_process", + "Eukaryota", + "Eumetazoa", + "Aplasia/Hypoplasia affecting the uvea", + "anterior uvea", + "vestibulo-auditory system", + "Abnormal right ventricle morphology", + "Clinodactyly", + "cranial neuron projection bundle", + "Abdominal wall defect", + "Almond-shaped palpebral fissure", + "Clubbing", + "head bone", + "shape digit", + "multi-tissue structure", + "bodily fluid", + "abnormal peripheral nervous system morphology", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "appendage girdle complex", + "subdivision of head", + "Abnormal calvaria morphology", + "abnormal skeletal system", + "Abnormal morphology of ulna", + "Aplasia/Hypoplasia of the iris", + "mouth", + "spinal cord", + "appendicular skeleton", + "limb skeleton subdivision", + "Abnormal cell morphology", + "Abnormal palate morphology", + "forelimb long bone", + "abnormal size of skull", + "limb segment", + "abnormally formed anatomical entity", + "absent sperm", + "skeletal system", + "curved anatomical entity in independent continuant", + "hindlimb skeleton", + "endochondral bone", + "subdivision of skeleton", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "Abnormality of the skeletal system", + "Overriding aorta", + "trachea", + "Deviation of finger", + "Abnormality of limbs", + "Abnormal platelet morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "ulna endochondral element", + "abnormal shape of cornea", + "abnormal forebrain morphology", + "abnormal limb long bone morphology", + "eukaryotic cell", + "abnormal zone of skin morphology", + "pedal digitopodium bone", + "neural tube formation", + "anatomical conduit", + "abnormally formed anterior chamber of eyeball", + "Anal atresia", + "postcranial axial skeletal system", + "Clubbing of toes", + "Abnormal uvea morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal forelimb zeugopod morphology", + "zeugopod", + "skeletal element", + "paired limb/fin", + "abnormal semi-lunar valve morphology", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "bone element", + "pectoral appendage", + "deviation of manual digit 5 towards the middle", + "abnormal digestive system morphology", + "septum", + "Abnormality of limb bone morphology", + "Abnormal forearm bone morphology", + "root", + "Abnormal forebrain morphology", + "developing anatomical structure", + "skeleton of limb", + "forelimb zeugopod skeleton", + "prepuce", + "subdivision of oviduct", + "limb bone", + "pectoral appendage skeleton", + "Abnormal blood vessel morphology", + "cardiovascular system", + "blood vasculature", + "tube development", + "acropodium region", + "blood vessel", + "germ cell", + "outflow tract", + "Umbilical hernia", + "Arteriovenous malformation", + "abnormal connective tissue", + "Abnormal eye morphology", + "Abnormal long bone morphology", + "absent sperm in the semen", + "vasculature", + "embryonic morphogenesis", + "abnormal liver", + "decreased pigmentation in independent continuant", + "tissue development", + "venous blood vessel", + "abnormal vasculature", + "abnormal genitourinary system", + "abnormal musculoskeletal movement", + "changed developmental process rate", + "abnormal cardiovascular system", + "Abnormal reproductive system morphology", + "abnormal blood vessel morphology", + "abnormal parasympathetic nervous system morphology", + "abnormal embryo morphology", + "Abnormal venous morphology", + "Aplasia/Hypoplasia affecting the eye", + "Functional abnormality of male internal genitalia", + "vein", + "multi cell part structure", + "abnormal prepuce of penis morphology", + "myocardium", + "external ear", + "abnormal telencephalon morphology", + "Abnormality of the forehead", + "intromittent organ", + "organism", + "secondary palate", + "penis", + "Orofacial cleft", + "digestive system element", + "autopod bone", + "Neurodevelopmental abnormality", + "manual digit phalanx endochondral element", + "Abnormality of the immune system", + "abnormal skin of head morphology", + "abnormal neural tube closure", + "abnormal cardiovascular system morphology", + "Abnormality of mental function", + "nervous system process", + "Abnormal toe phalanx morphology", + "arch of centrum of vertebra", + "Metazoa", + "abnormal parasympathetic ganglion morphology", + "abnormality of internal male genitalia physiology", + "decreased length of forelimb zeugopod bone", + "limb endochondral element", + "abnormal brain ventricle/choroid plexus morphology", + "Abnormal cerebral ventricle morphology", + "structure with developmental contribution from neural crest", + "abnormal nervous system morphology", + "abnormal central nervous system morphology", + "Abnormal preputium morphology", + "Neural tube defect", + "organ system subdivision", + "Aplasia/Hypoplasia involving bones of the skull", + "tissue morphogenesis", + "abnormal brain ventricle morphology", + "skeletal joint", + "Abnormal cardiovascular system physiology", + "Abnormal cerebrospinal fluid morphology", + "forelimb bone", + "Abnormal uvula morphology", + "abnormally increased number of anatomical entity", + "ventricular system of central nervous system", + "Abnormal shape of the frontal region", + "central nervous system", + "abnormal arm", + "Abnormality of limb bone", + "autopod endochondral element", + "cognition", + "ventricular system of brain", + "shape anatomical entity", + "anatomical entity hypoplasia in independent continuant", + "Facial asymmetry", + "Abnormal leukocyte count", + "anatomical entity dysfunction in independent continuant", + "abnormal brain morphology", + "abnormal heart layer morphology", + "Abnormal frontal bone morphology", + "Abnormality of lower limb joint", + "Recurrent infections", + "Morphological central nervous system abnormality", + "organ component layer", + "Hydrocephalus", + "forelimb zeugopod bone", + "abnormal anus morphology", + "abnormally increased number of brain ventricle in the independent continuant", + "cerebrospinal fluid", + "abnormal nervous system", + "abnormally fused pedal digit and pedal digit", + "future central nervous system", + "nervous system development", + "abnormal manual digit morphology in the manus", + "material anatomical entity", + "abnormal internal naris", + "Cranial nerve paralysis", + "developmental process", + "abnormal ureter", + "absent anatomical entity in the independent continuant", + "manual digit 1 or 5", + "abdominal segment bone", + "abnormal forelimb morphology", + "abnormal autonomic nervous system", + "abnormal cornea, asymmetrically curved", + "Abnormal cellular immune system morphology", + "Abnormality of male external genitalia", + "abnormal forehead", + "abnormal voluntary movement behavior", + "tissue", + "abnormal behavior process", + "abnormal axial skeleton plus cranial skeleton morphology", + "absent anatomical entity in the semen", + "subdivision of organism along appendicular axis", + "Abnormal male reproductive system physiology", + "abnormal cerebrospinal fluid morphology", + "zeugopodial skeleton", + "Small intestinal stenosis", + "male gamete generation", + "sexual reproduction", + "abnormal synovial joint of pelvic girdle morphology", + "embryo", + "Absent testis", + "exocrine system", + "Abnormality of the genitourinary system", + "Abnormality of the outer ear", + "abnormal gamete", + "quality", + "phenotype by ontology source", + "Abnormality of the male genitalia", + "Abnormality of blood and blood-forming tissues", + "abnormality of multicellular organism height", + "abnormal limb morphology", + "upper urinary tract", + "right cardiac chamber", + "manual digitopodium region", + "abnormal enteric nervous system morphology", + "anterior region of body", + "Abnormality of the upper limb", + "entity", + "Decreased anatomical entity mass", + "anatomical system", + "upper digestive tract", + "dorsum", + "cranial nerve", + "testis", + "reproductive structure", + "abnormal ulna morphology", + "gonad", + "Decreased anatomical entity mass density", + "ganglion", + "abnormal shape of external ear", + "opaque lens of camera-type eye", + "epithelial tube", + "Finger clinodactyly", + "iris", + "absent gamete", + "naris", + "mesoderm-derived structure", + "abnormal male reproductive system morphology", + "Abnormality of the gastrointestinal tract", + "internal male genitalia", + "digestive system", + "curved anatomical entity", + "decreased length of long bone", + "material entity", + "increased reflex", + "long bone", + "system development", + "abnormal multicellular organismal reproductive process", + "abnormal anatomical entity, asymmetrically curved", + "manual digit", + "abnormal reproductive process", + "abnormal shape of continuant", + "system process", + "male gamete", + "cell differentiation", + "abnormal cerebral cortex morphology", + "abnormal arch of centrum of vertebra", + "bone of appendage girdle complex", + "anatomical wall", + "abnormality of anatomical entity height", + "abnormal heart right ventricle morphology", + "neural crest-derived structure", + "epithelial tube formation", + "asymmetrically curved cornea", + "hindlimb", + "continuant", + "Intrauterine growth retardation", + "abnormal cornea morphology", + "entire sense organ system", + "lower urinary tract", + "Abnormality of globe location", + "Tracheoesophageal fistula", + "Abnormal cardiac atrium morphology", + "Neoplasm", + "Abnormal intestine morphology", + "organ", + "pedal digit plus metapodial segment", + "occurrent", + "abnormal male reproductive organ morphology", + "pedal digit phalanx endochondral element", + "integumental system", + "semen", + "abnormality of anatomical entity physiology", + "multicellular organismal reproductive process", + "Abnormality of the head", + "heart", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "sensory system", + "absent sperm in the independent continuant", + "pelvic region element", + "abnormal systemic artery morphology", + "male organism", + "abnormal hindlimb joint", + "reproduction", + "vessel", + "lateral structure", + "Microphthalmia", + "absent anatomical entity in the multicellular organism", + "Abnormal nasal morphology", + "postcranial axial skeleton", + "abnormal vein morphology", + "abnormal external ear morphology", + "decreased qualitatively developmental process", + "camera-type eye", + "All", + "Abnormal bone structure", + "male reproductive organ", + "abnormal blood cell morphology", + "abnormal cell", + "disconnected anatomical group", + "upper limb segment", + "biological_process", + "Aplasia/Hypoplasia affecting the anterior segment of the eye", + "Abnormality of the genital system", + "Abnormal facial shape", + "tube morphogenesis", + "leukocyte", + "delayed biological_process", + "systemic artery", + "organism substance", + "Abnormal heart valve physiology", + "changed biological_process rate", + "absent germ cell", + "Abnormal erythroid lineage cell morphology", + "abnormal peripheral nervous system", + "ear", + "transudate", + "Abnormal joint morphology", + "forelimb endochondral element", + "abnormal duodenum morphology", + "abnormal leukocyte morphology", + "Abnormal respiratory system physiology", + "multicellular organismal process", + "bone of pelvic complex", + "organ part", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormal hip joint morphology", + "neuron projection bundle", + "Abnormal spinal cord morphology", + "external male genitalia", + "abnormality of cranial nerve physiology", + "abnormal pigmentation", + "independent continuant", + "anatomical line between pupils", + "abnormal number of anatomical enitites of type anatomical entity", + "forelimb skeleton", + "immune system", + "endocrine system", + "decreased qualitatively reproductive process", + "gamete generation", + "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Abnormal ganglion morphology", + "hepatobiliary system", + "subdivision of skeletal system", + "Abnormal external genitalia", + "pulmonary valve", + "cellular organisms", + "vertebral element", + "viscus", + "bone of free limb or fin", + "abnormal pedal digit morphology", + "abnormal ear", + "Abnormality of reproductive system physiology", + "abnormal size of head", + "abnormal external genitalia", + "radius endochondral element", + "Abnormal renal morphology", + "abnormal gamete generation", + "Abnormality of the curvature of the cornea", + "cell", + "abnormal interventricular septum morphology", + "Abnormality of the mouth", + "abnormal ductus arteriosus morphology", + "Finger syndactyly", + "limb", + "respiratory system", + "hip joint", + "abnormal ear morphology", + "abnormal number of anatomical enitites of type sperm", + "Abnormality of the cardiovascular system", + "dorsal region element", + "abnormal opening of the anatomical entity", + "Abnormal systemic arterial morphology", + "multicellular anatomical structure", + "hematopoietic system", + "spermatogenesis", + "abnormal shape of palpebral fissure", + "abnormal cardiac atrium morphology in the heart", + "morphogenesis of embryonic epithelium", + "haploid cell", + "conceptus", + "abnormal vertebra morphology", + "internal genitalia", + "aplasia or hypoplasia of iris", + "Abnormality of skin pigmentation", + "abnormality of respiratory system physiology", + "prepuce of penis", + "concave 3-D shape anatomical entity", + "abnormal heart left ventricle morphology", + "leg bone", + "abnormal tracheobronchial tree morphology", + "abnormal external male genitalia", + "abnormal anatomical entity morphology in the brain", + "Abnormal ear morphology", + "abnormal craniocervical region", + "manual digit digitopodial skeleton", + "flat anatomical entity in independent continuant", + "cardiac ventricle", + "abnormal internal genitalia", + "ocular surface region", + "platelet", + "Growth abnormality", + "hip", + "primary neural tube formation", + "renal pelvis/ureter", + "male urethral meatus", + "reproductive organ", + "anus atresia", + "abnormal skull morphology", + "Short long bone", + "abnormality of nervous system physiology", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "abnormal aorta morphology", + "increased pigmentation in skin of body", + "Abnormality of the testis size", + "hip dislocation", + "Abnormal cellular phenotype", + "neural tube development", + "external genitalia", + "Hypertrophic cardiomyopathy", + "abnormal number of anatomical enitites of type cell", + "abnormal limb bone morphology", + "tunica fibrosa of eyeball", + "Abnormal appendicular skeleton morphology", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormality of the urinary system", + "abnormality of reproductive system physiology", + "abnormally localised anatomical entity", + "abnormal anatomical entity morphology in the skeleton of pelvic complex", + "Abnormal heart morphology", + "Proptosis", + "changed embryo development rate", + "hindlimb stylopod", + "Abnormal esophagus morphology", + "Anemia", + "morphological feature", + "Abnormality of metabolism/homeostasis", + "forelimb zeugopod", + "abnormal testis morphology", + "reproductive process", + "abnormally formed anatomical entity in independent continuant", + "body proper", + "abnormal respiratory tube morphology", + "Abnormal morphology of female internal genitalia", + "anatomical cluster", + "blood", + "phenotype", + "abnormal pigmentation in independent continuant", + "Abnormal involuntary eye movements", + "Abnormal tracheal morphology", + "process", + "subdivision of organism along main body axis", + "prominent forehead", + "abnormal incomplete closing of the arch of centrum of vertebra", + "segment of manus", + "Abnormality of the nose", + "developmental process involved in reproduction", + "Abnormal anterior chamber morphology", + "abnormal innominate bone morphology", + "aplasia or hypoplasia of anatomical entity", + "limb long bone", + "compound organ", + "eye", + "abnormal synovial joint morphology", + "reproductive system", + "multi-limb segment region", + "ventricle of nervous system", + "paralysed anatomical entity", + "pelvic appendage", + "abnormal eyeball of camera-type eye", + "abnormal anterior uvea morphology", + "decreased size of the eyeball of camera-type eye", + "absent anatomical entity", + "cerebral cortex", + "tracheobronchial tree", + "malformed anatomical entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "Abnormality of the peripheral nervous system", + "trunk region element", + "skeleton of pectoral complex", + "specifically dependent continuant", + "abnormal autonomic nervous system morphology", + "ganglion of peripheral nervous system", + "Abnormal reflex", + "hindlimb joint", + "abnormal anatomical entity morphology", + "abnormally decreased number of anatomical entity in the independent continuant", + "Short palpebral fissure", + "Abnormal skeletal morphology", + "increased pigmentation", + "decreased spermatogenesis", + "anatomical structure development", + "arterial blood vessel", + "abnormal bone element mass density", + "main body axis", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Sloping forehead", + "abnormal manual digit 5 morphology", + "non-connected functional system", + "external soft tissue zone", + "digit plus metapodial segment", + "head", + "Dolichocephaly", + "common carotid artery plus branches", + "drooping eyelid", + "Abnormal cardiac ventricle morphology", + "abnormal small intestine morphology", + "Abnormality of brain morphology", + "abnormal heart morphology", + "appendage girdle region", + "anatomical structure morphogenesis", + "abnormal limb bone", + "abnormal spinal cord morphology", + "Hypogonadism", + "arm bone", + "urethral opening", + "Aganglionic megacolon", + "Abnormal nervous system morphology", + "sense organ", + "abnormal reproductive system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "Abnormality of head or neck", + "abnormally fused manual digit and anatomical entity", + "abnormally decreased functionality of the myocardium", + "Abnormal peripheral nerve morphology by anatomical site", + "Syndactyly", + "abnormal head morphology", + "digestive tract", + "abnormality of camera-type eye physiology", + "organism subdivision", + "subdivision of digestive tract", + "Abnormal pinna morphology", + "abnormally protruding anatomical entity", + "abnormal respiratory system morphology", + "respiratory airway", + "abnormal secondary palate morphology", + "venous system", + "musculoskeletal movement", + "decreased qualitatively biological_process", + "anatomical entity", + "abnormal trachea morphology", + "abnormal phenotype by ontology source", + "subdivision of trunk", + "behavior process", + "anterior chamber of eyeball", + "abnormal development of anatomical entity", + "increased biological_process", + "abnormal postcranial axial skeleton morphology", + "Abnormal ventriculoarterial connection", + "alimentary part of gastrointestinal system", + "abnormal renal system morphology", + "abnormal biological_process", + "abnormal cardiac ventricle morphology in the heart", + "Growth delay", + "kidney", + "embryo development", + "brain gray matter", + "Abnormal tracheobronchial morphology", + "subdivision of tube", + "Abnormal respiratory system morphology", + "Abnormal lens morphology", + "Multiple cafe-au-lait spots", + "system", + "transparent eye structure", + "Abnormality of the respiratory system", + "girdle skeleton", + "asymmetrically curved anatomical entity", + "Abnormal eye physiology", + "segment of autopod", + "thoracic segment of trunk", + "pes bone", + "abnormal bone of pelvic complex morphology", + "arm", + "Short stature", + "Abnormality of the vertebral column", + "abnormal digestive system", + "Abnormality of the digestive system", + "decreased anatomical entity mass", + "Abnormal morphology of the great vessels", + "pectoral complex", + "flat longitudinal arch of pes", + "abnormal bone of pectoral complex morphology", + "orifice", + "craniocervical region", + "abnormal developmental process", + "Abnormality of cardiovascular system morphology", + "abnormal respiratory system", + "Abnormal penis morphology", + "Intellectual disability", + "abnormal ocular adnexa", + "embryonic structure", + "brain ventricle/choroid plexus", + "proximo-distal subdivision of respiratory tract", + "Cognitive impairment", + "abnormal male reproductive system", + "abnormal mouth morphology", + "organ subunit", + "Abnormal neural tube morphology", + "ectoderm-derived structure", + "Aplasia/Hypoplasia of the testes", + "left cardiac chamber", + "Slanting of the palpebral fissure", + "Hip dislocation", + "Morphological abnormality of the gastrointestinal tract", + "oral cavity", + "vestibulo-ocular reflex", + "neocortex", + "Abnormality of refraction", + "digit 5", + "abnormal long bone morphology", + "digitopodium bone", + "endoderm-derived structure", + "abnormal penis", + "germ line cell", + "bone element hypoplasia in independent continuant", + "abnormal artery morphology", + "respiratory tract", + "respiratory tube", + "glans", + "abnormality of male reproductive system physiology", + "tube", + "brain ventricle", + "future nervous system", + "skeleton", + "multicellular organism", + "thoracic cavity element", + "Nystagmus", + "esophagus", + "physiologic nystagmus", + "hemolymphoid system", + "Lower extremity joint dislocation", + "lower respiratory tract", + "visual system", + "abnormal camera-type eye morphology", + "cornea", + "abdominal wall", + "3-D shape anatomical entity", + "Abnormality of the ear", + "eyelid", + "abnormally decreased number of leukocyte", + "orbital region", + "multicellular organism development", + "Ventriculomegaly", + "Abnormal anterior eye segment morphology", + "abnormal anatomical entity", + "Abnormality of the upper urinary tract", + "abnormal bony vertebral centrum morphology", + "abnormal alimentary part of gastrointestinal system", + "Abnormal carotid artery morphology", + "Astigmatism", + "circulatory organ", + "uvea", + "shape cornea", + "paired limb/fin segment", + "pelvic girdle region", + "simple eye", + "abnormal posterior nasal aperture morphology", + "curvature anatomical entity", + "abnormal orbital region", + "morphogenesis of an epithelium", + "epithelial tube morphogenesis", + "abnormal palpebral fissure", + "abnormal tube formation", + "circulatory system", + "Spina bifida", + "Aplasia/hypoplasia involving bones of the extremities", + "multicellular organismal-level homeostasis", + "anterior segment of eyeball", + "chordate embryonic development", + "skeleton of digitopodium", + "embryonic epithelial tube formation", + "cranium", + "dermatocranium", + "Abnormal axial skeleton morphology", + "abnormal vertebral column", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "Abnormal ileum morphology", + "increased qualitatively biological_process in independent continuant", + "joint of girdle", + "neural tube closure", + "abnormal ileum morphology", + "abnormal eyelid morphology", + "manus", + "abnormal nose morphology", + "embryonic tissue", + "ileum", + "Ventricular septal defect", + "small intestine", + "Abnormal jaw morphology", + "irregular bone", + "Meckel diverticulum", + "trunk bone", + "Azoospermia", + "Abnormal small intestine morphology", + "skeleton of lower jaw", + "abnormal small intestine", + "anus", + "Abnormal skull morphology", + "Abnormal anus morphology", + "Abnormal ear physiology", + "ecto-epithelium", + "abnormal closing of the anatomical entity", + "abnormal anus", + "Abnormal spermatogenesis", + "anatomical entity atresia", + "abnormally fused manual digit and manual digit", + "sensory perception", + "Abnormality of corneal shape", + "abnormality of anatomical entity mass", + "abnormality of multicellular organism mass", + "Abnormality of body weight", + "Weight loss", + "Decreased body weight", + "autopodial extension", + "growth", + "cardiac valve", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal craniocervical region morphology", + "abnormal growth", + "pelvic complex", + "Abnormality of the skin", + "outflow tract of ventricle", + "Abnormality of the choanae", + "abnormal iris morphology", + "abnormal cardiac ventricle morphology in the independent continuant", + "abnormal forelimb zeugopod bone", + "valve", + "abnormal platelet morphology", + "abnormal anatomical entity morphology in the manus", + "increased length of the anatomical entity", + "Cafe-au-lait spot", + "thoracic cavity blood vessel", + "aortic valve", + "abnormal internal ear", + "abnormal outflow part of left ventricle morphology", + "abnormal anatomical entity morphology in the heart", + "curvature anatomical entity in independent continuant", + "hypothalamus-pituitary axis", + "endochondral element", + "anatomical entity hypoplasia", + "abnormal cardiac ventricle morphology", + "motile cell", + "abnormal leg", + "internal ear", + "heart left ventricle", + "epithelium", + "autopodial skeleton", + "abnormal cardiac valve morphology in the independent continuant", + "Opisthokonta", + "Abnormality of digestive system morphology", + "Abnormality of the ocular adnexa", + "gamete", + "upper jaw region", + "Abnormal eyelid morphology", + "Abnormal facial skeleton morphology", + "multi organ part structure", + "increased length of the anatomical line between pupils", + "palpebral fissure", + "Abnormal ocular adnexa morphology", + "Upslanted palpebral fissure", + "manual digit plus metapodial segment", + "Abnormal bone ossification", + "female reproductive organ", + "ocular adnexa", + "obsolete multicellular organism reproduction", + "decreased developmental process", + "Abnormality of the palpebral fissures", + "Abnormal testis morphology", + "deviation of anatomical entity towards the middle", + "opaque anatomical entity", + "heart right ventricle", + "increased size of the anatomical entity", + "lens of camera-type eye", + "Cataract", + "abnormal lens of camera-type eye morphology", + "Atrial septal defect", + "drooping anatomical entity", + "clavate digit", + "shape eyelid", + "Ptosis", + "Abnormal cornea morphology", + "gland", + "abnormal artery morphology in the independent continuant", + "Abnormality iris morphology", + "abnormal penis morphology", + "abnormal cranium morphology", + "myeloid cell homeostasis", + "glans penis", + "Neoplasm by anatomical site", + "olfactory system", + "Abnormality of the nervous system", + "pedal digit digitopodial skeleton", + "pelvic region of trunk", + "bony vertebral centrum", + "abnormal olfactory system morphology", + "abnormal nose", + "sperm", + "internal naris", + "olfactory organ", + "cranial skeletal system", + "nose", + "endocrine gland", + "posterior nasal aperture", + "decreased size of the anatomical entity in the pectoral complex", + "musculature of body", + "nerve of head region", + "internal naris atresia", + "Abnormal male urethral meatus morphology", + "male urethra", + "posterior nasal aperture atresia", + "Hypospadias", + "epicanthal fold", + "hindlimb long bone", + "excretory system", + "abnormal urethra", + "renal system", + "abnormal lower urinary tract", + "segment of pes", + "voluntary movement behavior", + "Renal hypoplasia/aplasia", + "thoracic segment organ", + "urethra", + "gray matter of telencephalon", + "urethral meatus", + "nervous system", + "abnormal face", + "Displacement of the urethral meatus", + "abnormally fused anatomical entity and manual digit", + "abnormal renal system", + "Abnormality of the urethra", + "abnormal limb", + "immaterial entity", + "Abnormality of the lower urinary tract", + "abnormal spermatogenesis", + "Abnormal shape of the palpebral fissure", + "Scoliosis", + "Abnormal curvature of the vertebral column", + "tube closure", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormality of the abdominal organs", + "autopod region", + "Abnormal forearm morphology", + "Abnormality of enteric nervous system morphology", + "regional part of nervous system", + "Abnormal midface morphology", + "Deviation of the 5th finger", + "regional part of brain", + "Visual impairment", + "ulna", + "abdomen", + "deviation of manual digit towards the middle", + "Abnormal vascular morphology", + "Abnormality of skull size", + "Abnormal pulmonary valve morphology", + "abnormal anterior chamber of eyeball morphology", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "telencephalon", + "Decreased head circumference", + "abnormality of renal system physiology", + "abnormal esophagus morphology", + "abnormal size of anatomical entity", + "Leukopenia", + "abnormal hematopoietic system", + "abnormal ocular adnexa morphology", + "abnormally decreased number of hematopoietic cell", + "semi-lunar valve", + "hematopoietic cell", + "nucleate cell", + "abnormal uvea morphology", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal number of anatomical enitites of type hematopoietic cell", + "digit 1 plus metapodial segment", + "synovial joint", + "Abnormality of the anus", + "abnormal immune system", + "pedal digitopodium region", + "abnormally decreased number of cell", + "Functional abnormality of the inner ear", + "pedal digit", + "haemolymphatic fluid", + "abnormally decreased number of leukocyte in the blood", + "axial skeleton plus cranial skeleton", + "Abnormal leukocyte morphology", + "abnormal number of anatomical entities of type anatomical entity in blood", + "abnormal kidney", + "abnormal number of anatomical enitites of type leukocyte", + "Abnormality of thrombocytes", + "Abnormal immune system morphology", + "abnormally decreased number of anatomical entity in the multicellular organism", + "digit 5 plus metapodial segment", + "Myelodysplasia", + "abnormal immune system morphology", + "Hematological neoplasm", + "Reduced bone mineral density", + "abnormal size of brain ventricle", + "nerve", + "Frontal bossing", + "zone of organ", + "increased size of the brain ventricle", + "Abnormality of vision", + "Non-obstructive azoospermia", + "increased size of the anatomical entity in independent continuant", + "central nervous system gray matter layer", + "chamber of eyeball", + "pedal digit bone", + "cardiac atrium", + "Abnormality of the integument", + "delayed growth", + "Abnormality of the endocrine system", + "forelimb", + "skeleton of pelvic complex", + "abnormal endocrine system", + "abdominal segment of trunk", + "Conotruncal defect", + "digestive system gland", + "musculoskeletal system", + "abdominal segment element", + "glandular system", + "jaw skeleton", + "abnormal uterus morphology", + "hindlimb bone", + "exocrine gland", + "Decreased fertility", + "behavior", + "abdomen element", + "Abnormality of the liver", + "liver", + "abnormal hypothalamus-pituitary axis", + "increased anatomical entity length in independent continuant", + "Hypertelorism", + "abnormally fused pedal digit and anatomical entity", + "abnormal location of anatomical entity", + "Cardiomyopathy", + "flat bone", + "immaterial anatomical entity", + "abnormal anatomical entity, curved", + "anatomical line", + "non-material anatomical boundary", + "abnormal anatomical entity topology in independent continuant", + "abnormal anatomical entity length", + "cavitated compound organ", + "Abnormal duodenum morphology", + "duodenum", + "Abnormality of the lower limb", + "skeleton of pedal digitopodium", + "skeleton of pedal acropodium", + "vertebral centrum element", + "pelvic appendage skeleton", + "hindlimb endochondral element", + "skeleton of pes", + "abnormal incomplete closing of the interventricular septum", + "Abnormal toe morphology", + "pes", + "abnormal phalanx morphology", + "Choanal atresia", + "acropodial skeleton", + "digitopodium region", + "3-D shape anatomical entity in independent continuant", + "Abnormal digit morphology", + "Duodenal stenosis", + "Abnormal foot morphology", + "Hypermelanotic macule", + "digit", + "abnormal hindlimb morphology", + "clavate anatomical entity", + "Hydroureter", + "Abnormal uterus morphology", + "Abnormal oral morphology", + "abnormal digit morphology", + "shape forehead", + "posterior region of body", + "individual digit of digitopodial skeleton", + "phalanx endochondral element", + "abnormal forehead morphology", + "Abnormal lower limb bone morphology", + "abnormal digit", + "leg", + "abnormally decreased number of anatomical entity in the blood", + "phalanx of pes", + "phalanx", + "abnormal skeletal system morphology", + "lower limb segment", + "abnormal autopod region morphology", + "nervous system cell part layer", + "aplasia or hypoplasia of uvea", + "abnormal pes morphology", + "abnormal phalanx of pes morphology", + "genitourinary system", + "Limb undergrowth", + "Abnormality of the kidney", + "abnormal kidney morphology", + "skull", + "femur", + "Decreased fertility in males", + "primary circulatory organ", + "aplasia or hypoplasia of palatine uvula", + "abnormal joint of girdle morphology", + "anatomical projection", + "Abnormal aortic valve morphology", + "midface", + "abnormal soft palate morphology", + "abnormal mouth", + "Abnormal soft palate morphology", + "shape palpebral fissure", + "abnormal palatine uvula morphology", + "anatomical cavity", + "abnormal midface morphology", + "palatine uvula", + "Abnormal erythrocyte morphology", + "soft palate", + "abnormal oral cavity morphology", + "Abnormal oral cavity morphology", + "abnormal asymmetry of face", + "abnormal integument", + "abnormal cardiac valve morphology", + "Localized skin lesion", + "Abnormal 5th finger morphology", + "Abnormal thumb morphology", + "aplasia or hypoplasia of ulna", + "manual digit bone", + "abnormal biological_process in independent continuant", + "non-functional kidney", + "decreased size of the anatomical entity", + "Abnormal cerebral cortex morphology", + "forebrain", + "increased qualitatively biological_process", + "abnormal cell morphology", + "anatomical collection", + "Macule", + "eyeball of camera-type eye", + "abnormal upper urinary tract", + "abnormal skin of body", + "abnormal nerve", + "abnormally increased number of anatomical entity in the independent continuant", + "limb joint", + "Hyperpigmentation of the skin", + "Abnormality of skin morphology", + "integument", + "abnormality of kidney physiology", + "changed biological_process rate in independent continuant", + "increased biological_process in independent continuant", + "ulna hypoplasia", + "increased biological_process in skin of body", + "abnormal cornea, curved", + "pigmentation", + "increased pigmentation in independent continuant", + "skeleton of manus", + "abnormal cardiac valve morphology in the heart", + "Abnormality of the hand", + "bone of hip region", + "Aplasia/hypoplasia of the extremities", + "Aplasia/Hypoplasia of fingers", + "abnormal manus", + "decreased pigmentation in skin of body", + "Abnormal finger morphology", + "Aplasia/hypoplasia involving bones of the hand", + "Aplasia/hypoplasia involving the skeleton", + "abnormal manus morphology", + "vascular system", + "abnormal anterior segment of eyeball morphology", + "aplasia or hypoplasia of skeleton", + "male reproductive system", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "Abnormal internal genitalia", + "abnormally fused anatomical entity and digit", + "abnormal developmental process involved in reproduction", + "abnormally fused digit and anatomical entity", + "appendage", + "abnormally fused digit and digit", + "Clinodactyly of the 5th finger", + "anatomical space", + "abnormally fused anatomical entity and anatomical entity", + "biogenic amine secreting cell", + "ossification", + "Abnormality of bone mineral density", + "manual digit 5", + "cardiac chamber", + "abnormal spatial pattern of anatomical entity", + "appendicular skeletal system", + "abnormal location of eyeball of camera-type eye", + "deviation of manual digit 5", + "trunk", + "manual digit 5 plus metapodial segment", + "digit 1 or 5", + "deviation of digit towards the middle", + "abnormal late embryo", + "Deviation of the hand or of fingers of the hand", + "Abnormality of the hypothalamus-pituitary axis", + "deviation of anatomical entity", + "deviation of manual digit", + "paired limb/fin skeleton", + "Abnormal nervous system physiology", + "Hypoplasia of the ulna", + "hypertrophic multicellular anatomical structure", + "dermal skeletal element", + "decreased length of anatomical entity in independent continuant", + "decreased height of the anatomical entity", + "Abnormality of the eye", + "decreased size of the ulna", + "forelimb zeugopod bone hypoplasia", + "Upper limb undergrowth", + "abnormal incomplete closing of the interatrial septum", + "intestine", + "Decreased multicellular organism mass", + "Aplasia/Hypoplasia of the ulna", + "aplasia or hypoplasia of telencephalon", + "decreased size of the anatomical entity in the independent continuant", + "Short forearm", + "increased height of the secondary palate", + "Tetralogy of Fallot", + "Forearm undergrowth", + "Aplasia/hypoplasia involving forearm bones", + "articulation", + "skeletal joint dislocation", + "articular system", + "peripheral nervous system", + "abnormal hip joint morphology", + "pelvic girdle skeleton", + "pelvic girdle bone/zone", + "systemic arterial system", + "Abnormal cerebral morphology", + "Joint dislocation", + "Micrognathia", + "anatomical entity dislocation", + "Abnormal localization of kidney", + "abnormal skeletal joint morphology", + "skin of body", + "cerebral hemisphere gray matter", + "abnormal pelvic girdle bone/zone morphology", + "abnormal embryonic tissue morphology", + "zone of bone organ", + "Abnormal hip bone morphology", + "Aplasia/Hypoplasia of the radius", + "Abnormal pelvic girdle bone morphology", + "abnormal external ear", + "girdle bone/zone", + "abnormal jaw skeleton morphology", + "Abnormality of the face", + "synovial joint of pelvic girdle", + "abnormal hindlimb stylopod morphology", + "Abnormality of femur morphology", + "abnormal femur morphology", + "dentary", + "femur endochondral element", + "stylopod", + "upper leg bone", + "Abnormality of enteric ganglion morphology", + "Unusual infection", + "abnormal enteric ganglion morphology", + "Abnormal autonomic nervous system morphology", + "abnormal skin of body morphology", + "Abnormal peripheral nervous system ganglion morphology", + "enteric ganglion", + "abnormal face morphology", + "axial skeletal system", + "abnormal intestine morphology", + "autonomic ganglion", + "parasympathetic nervous system", + "Abnormality of the autonomic nervous system", + "autonomic nervous system", + "Abnormal hand morphology", + "abnormal ganglion of peripheral nervous system morphology", + "parasympathetic ganglion", + "enteric nervous system", + "abnormal ocular surface region morphology", + "abnormal ganglion morphology", + "abnormal vascular system morphology", + "cortex of cerebral lobe", + "abnormal frontal cortex morphology", + "tetrapod frontal bone", + "abnormal roof of mouth morphology", + "prominent anatomical entity", + ], + }, + { + "id": "MONDO:0013248", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group O", + "xref": ["DOID:0111096", "GARD:15656", "OMIM:613390", "UMLS:C3150653"], + "provided_by": "phenio_nodes", + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.", + "synonym": [ + "FANCO", + "Fanconi Anemia, complementation group type O", + "Fanconi anaemia caused by mutation in RAD51C", + "Fanconi anaemia caused by mutation in Rad51C", + "Fanconi anaemia complementation group type O", + "Fanconi anemia caused by mutation in RAD51C", + "Fanconi anemia caused by mutation in Rad51C", + "Fanconi anemia complementation group type O", + "Fanconi anemia, complementation group O", + "RAD51C Fanconi anaemia", + "RAD51C Fanconi anemia", + "Rad51C Fanconi anaemia", + "Rad51C Fanconi anemia", + ], + "namespace": "MONDO", + "has_phenotype": [ + "HP:0040012", + "HP:0002984", "HP:0009777", + "HP:0001627", + "HP:0001245", + "HP:0002023", + "HP:0000126", + "HP:0000028", + "HP:0009778", + "HP:0009623", + "HP:0000107", + "HP:0003241", + "HP:0004322", + "HP:0003774", + "HP:0025023", + ], + "has_phenotype_label": [ + "Chromosome breakage", + "Hypoplasia of the radius", + "Absent thumb", + "Abnormal heart morphology", + "Small thenar eminence", + "Anal atresia", + "Hydronephrosis", + "Cryptorchidism", + "Short thumb", + "Proximal placement of thumb", + "Renal cyst", + "External genital hypoplasia", + "Short stature", + "Stage 5 chronic kidney disease", + "Rectal atresia", + ], + "has_phenotype_count": 15, + "has_phenotype_closure": [ + "NCBITaxon:33154", + "HP:0002242", + "UPHENO:0002714", + "UPHENO:0087006", + "NCBITaxon:2759", + "UBERON:5001463", + "UPHENO:0009382", + "UBERON:0008837", "UPHENO:0002905", - "UPHENO:0080325", - "UPHENO:0079876", - "UBERON:0034923", - "UBERON:0002390", - "UBERON:0012354", - "UBERON:0004381", - "UBERON:0012140", - "GO:0032501", - "UBERON:0005451", - "UBERON:0004088", - "UBERON:0035639", - "UBERON:0001463", - "UPHENO:0041226", - "UPHENO:0046707", - "UBERON:0001555", - "UPHENO:0002635", + "HP:0000077", + "UBERON:0002544", + "UPHENO:0086700", "UPHENO:0026506", - "UBERON:0000004", - "UPHENO:0026183", - "UBERON:0001444", - "UBERON:0011676", - "UPHENO:0084766", - "HP:0000240", - "HP:0001172", - "UPHENO:0086005", - "UPHENO:0080126", - "UBERON:0012141", - 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"UBERON:0003113", - "HP:0002715", - "UPHENO:0069294", - "UPHENO:0001002", - "UPHENO:0080662", - "UPHENO:0021791", - "UPHENO:0081786", - "HP:0006265", - "UBERON:0004121", - "UBERON:0000955", - "UBERON:0001968", - "UPHENO:0081451", - "PATO:0000001", - "UPHENO:0049874", - "CL:0000019", - "HP:0009821", - "UPHENO:0012541", - "UPHENO:0081435", - "UPHENO:0001001", - "UBERON:0000475", - "UPHENO:0078452", - "UBERON:0003466", - "UPHENO:0086049", - "UBERON:0002113", - "UBERON:0015021", - "UPHENO:0080099", - "UPHENO:0087089", - "HP:0000032", + "UBERON:0000323", + "UPHENO:0087427", + "HP:0034242", + "UBERON:8450002", + "UBERON:0000916", + "UBERON:0002417", + "UBERON:0005173", + "OBI:0100026", + "UPHENO:0001072", + "UBERON:0034923", + "UPHENO:0084834", + "UBERON:0004054", + "UBERON:0008962", + "UBERON:0001463", + "HP:0012210", + "UPHENO:0076779", + "UBERON:0010538", + "UPHENO:0001478", + "UBERON:0010712", + "HP:0000080", + "UPHENO:0077426", + "UBERON:0000079", + "UPHENO:0086201", + "UPHENO:0085873", + "CL:0000586", + "HP:0000028", + "UPHENO:0081423", + "UBERON:0008878", + "UBERON:0005409", + "HP:0001627", + "UPHENO:0049970", + "UPHENO:0003055", + "UBERON:0005156", + "GO:0000003", + "HP:0000811", + "HP:0012243", + "UPHENO:0085194", + "HP:0001172", + "HP:0002973", + "UBERON:0011676", + "HP:0000025", + "UPHENO:0049985", + "HP:0010944", + "HP:0001510", + "UPHENO:0086023", + "UPHENO:0080369", + "CL:0000408", + "GO:0007283", + "UBERON:0000481", "UBERON:0004288", - "HP:0002060", - "HP:0000118", + "UPHENO:0002830", + "UBERON:0015228", + "CL:0000015", + "UPHENO:0002597", + "GO:0007276", "UBERON:0000991", - "GO:0048519", - "UBERON:0034929", - "HP:0040070", - "UBERON:0002090", - "CL:0000000", - "UPHENO:0085195", - "UBERON:0011137", - "CL:0000255", - "UBERON:0010741", + "HP:0011024", + "UBERON:0011216", + "UBERON:0004175", + "UBERON:0004176", + "HP:0008669", + "UBERON:0003606", + "UPHENO:0021561", + "HP:0000035", + "HP:0004322", + "UPHENO:0087973", + "UPHENO:0086198", + "UBERON:0004122", + "UPHENO:0002595", + "CL:0000413", + "CL:0000039", + "GO:0050794", + "UPHENO:0085875", + "UBERON:0014793", + "HP:0009603", + "UBERON:0004111", + "UPHENO:0080377", + "HP:0000032", + "UPHENO:0078729", + "UBERON:0000463", + "UPHENO:0076735", + "UPHENO:0078452", + "UPHENO:0053298", + "UBERON:0001052", + "UBERON:0005090", + "HP:0000078", + "HP:0012622", + "UBERON:0001968", + "UBERON:0005177", + "HP:0011277", + "UBERON:0000473", + "UBERON:0004053", + "UPHENO:0002598", + "UPHENO:0049367", + "UPHENO:0046411", + "UPHENO:0046707", + "HP:0009381", + "UPHENO:0011498", + "UBERON:0004381", + "UPHENO:0046624", + "HP:0009623", + "UBERON:0012361", + "HP:0004097", + "UPHENO:0050101", + "UBERON:0001353", + "HP:0009484", + "UPHENO:0084829", + "UPHENO:0080351", + "GO:0010468", + "UPHENO:0000541", + "UBERON:0003466", + "UPHENO:0069254", + "UPHENO:0076740", + "HP:0100871", "HP:0000002", - "HP:0011842", - "HP:0000929", - "UBERON:0000047", - "UBERON:0000061", - "HP:0005773", - "HP:0005105", - "UBERON:0004375", - "HP:0000707", - "BFO:0000003", - "UPHENO:0026181", - "UPHENO:0086595", - "HP:0200007", - "HP:0000152", - "UBERON:0001890", + "HP:0001507", + "UPHENO:0049874", + "UPHENO:0000543", + "UBERON:0013522", + "HP:0012211", + "UPHENO:0002411", + "HP:0003774", + "UPHENO:0076773", + "HP:0002589", + "UPHENO:0063629", + "HP:0011100", + "HP:0012732", + "NCBITaxon:1", + "UPHENO:0084124", + "UPHENO:0087346", + "HP:0009777", "UBERON:0004921", - "UBERON:0001456", - "UBERON:0011159", - "UBERON:0011216", - "UPHENO:0002844", - "NCBITaxon:33154", - "UPHENO:0002880", - "UBERON:0000467", - "UPHENO:0020584", - "UBERON:0001460", - "UBERON:0000466", - "UBERON:0000033", - "UPHENO:0080200", - "UBERON:0001062", - "HP:0025354", - "HP:0000027", - "UPHENO:0081566", - "BFO:0000015", - "UPHENO:0080079", - "UBERON:0000075", - "HP:0000492", - "UPHENO:0081466", - "UPHENO:0076703", - "HP:0001873", - "UPHENO:0076723", - "UBERON:0011138", - "UPHENO:0085070", - "UPHENO:0002751", - "UPHENO:0085118", - "UPHENO:0081423", - "UBERON:0010712", - "UPHENO:0054957", - "UPHENO:0001005", - "UBERON:0002101", - "UBERON:0000064", - "UPHENO:0001072", - "UBERON:0000025", - "UPHENO:0088186", - "UPHENO:0054567", - "BFO:0000040", - "UPHENO:0087924", - "HP:0003220", - "UBERON:0000026", - "UBERON:0008962", - "HP:0000125", - "UPHENO:0008668", - "UBERON:0005944", + "UBERON:0000160", + "HP:0002034", + "UPHENO:0002725", + "HP:0012718", + "HP:0025023", ], "has_phenotype_closure_label": [ - "Vitiligo", - "Ectopic kidney", - "abnormally localised kidney", - "abnormal number of anatomical enitites of type sperm", - "semen", + "rectum atresia", + "abnormal rectum", + "Abnormal intestine morphology", + "lower digestive tract", + "intestine", + "rectum", + "internal anal region", + "abnormal alimentary part of gastrointestinal system", + "Anorectal anomaly", + "Abnormality of the gastrointestinal tract", + "Morphological abnormality of the gastrointestinal tract", + "large intestine", + "subdivision of tube", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "Metazoa", + "Rectal atresia", + "abnormal alimentary part of gastrointestinal system morphology", + "Chronic kidney disease", + "Abnormal renal physiology", + "Renal insufficiency", + "Abnormality of the urinary system physiology", + "Intestinal atresia", + "non-functional kidney", + "growth", + "decreased height of the anatomical entity", + "digestive system element", + "Growth delay", + "decreased size of the multicellular organism", + "Abnormality of body height", + "Renal cyst", + "deviation of manual digit", + "intestine atresia", + "Proximal placement of thumb", + "Eukaryota", + "Eumetazoa", + "decreased length of manual digit", + "decreased length of manual digit 1", + "Short digit", + "Short finger", "developmental process", - "reproduction", - "Abnormal testis morphology", + "reproductive process", + "abnormally localised testis", + "abnormal anatomical entity topology in independent continuant", + "abnormal male reproductive system morphology", + "Abnormality of male external genitalia", "developmental process involved in reproduction", - "multicellular organismal reproductive process", + "abnormally localised anatomical entity", + "abnormal reproductive system", + "absent gamete", + "sperm", + "male organism", + "reproductive structure", "abnormal reproductive process", "decreased qualitatively developmental process", - "absent anatomical entity in the semen", - "gamete generation", - "changed developmental process rate", - "abnormal male reproductive system morphology", - "spermatogenesis", - "absent sperm", - "abnormally localised testis", - "absent gamete", - "reproductive organ", - "abnormal gamete", - "decreased spermatogenesis", - "abnormal male reproductive system", - "obsolete multicellular organism reproduction", + "testis", + "internal male genitalia", + "abnormal multicellular organismal reproductive process", + "abnormal number of anatomical enitites of type sperm", "Azoospermia", "Abnormality of the male genitalia", - "sperm", + "male germ cell", + "abnormality of multicellular organism height", + "male gamete", + "abnormally localised anatomical entity in independent continuant", + "abnormal large intestine morphology", + "absent sperm in the independent continuant", + "organism substance", + "semen", + "abnormal male reproductive system", + "male reproductive system", + "reproduction", + "abnormal location of anatomical entity", + "abnormal developmental process involved in reproduction", + "decreased developmental process", + "reproductive organ", + "spermatogenesis", + "gamete generation", + "absent anatomical entity in the semen", + "abnormal gamete", + "abnormal number of anatomical enitites of type cell", "external genitalia", "internal genitalia", "gonad", - "abnormal reproductive system morphology", - "Abnormal spermatogenesis", - "abnormal internal genitalia", - "external male genitalia", "Abnormality of the genital system", - "decreased qualitatively reproductive process", - "decreased developmental process", + "abnormal internal genitalia", + "germ cell", + "Abnormality of reproductive system physiology", + "gamete", + "obsolete multicellular organism reproduction", + "absent sperm", + "abnormality of reproductive system physiology", + "abnormal spermatogenesis", + "changed biological_process rate", + "absent germ cell", + "abnormal renal system morphology", + "Abnormality of prenatal development or birth", + "multi-tissue structure", + "External genital hypoplasia", + "abnormally dilated anatomical entity", + "kidney", + "sexual reproduction", + "abnormal genitourinary system", + "increased size of the renal pelvis", + "late embryo", + "abnormal renal system", + "Abnormal renal morphology", + "embryo", + "renal pelvis", + "Abnormality of the kidney", + "renal pelvis/ureter", + "disconnected anatomical group", + "abdominal segment of trunk", + "abdomen", + "decreased length of digit", + "anatomical cluster", + "Abnormality of the upper urinary tract", + "renal system", + "Abnormal fetal genitourinary system morphology", + "organ part", + "increased size of the anatomical entity in independent continuant", + "Abnormal fetal morphology", + "Abnormal renal pelvis morphology", + "abnormally dilated renal pelvis", + "abnormal late embryo", + "Fetal pyelectasis", + "abnormal renal pelvis", + "abnormal renal pelvis morphology", + "abnormal external male genitalia", + "Fetal anomaly", + "upper urinary tract", + "Anal atresia", + "Dilatation of the renal pelvis", + "anus atresia", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "abnormal anus", + "abnormal closing of the anatomical entity", + "abnormal digestive system", + "deviation of manual digit 1", + "digestive tract", + "multicellular organismal reproductive process", + "anatomical conduit", + "anus", + "abnormal digestive system morphology", + "Neoplasm by anatomical site", + "digestive system", + "abnormality of male reproductive system physiology", "abnormal developmental process", - "abnormality of internal male genitalia physiology", - "abnormal gamete generation", - "abnormal external genitalia", - "abnormal location of anatomical entity", - "abnormal developmental process involved in reproduction", + "tube", + "abnormal muscle organ morphology", + "musculature of upper limb", + "haploid cell", + "appendage musculature", + "musculature of body", + "Abnormality of the musculature of the upper limbs", + "cavitated compound organ", + "abnormal musculature of upper limb", + "Abnormality of the musculature of the limbs", + "Abnormality of the musculature of the hand", + "germ line cell", + "thenar eminence hypoplasia", + "Abnormal palm morphology", + "musculature", + "Abnormality of the thenar eminence", + "abnormal musculature of limb", + "Abnormal rectum morphology", + "Abnormal testis morphology", + "Abnormal skeletal muscle morphology", + "musculature of manus", + "abnormal musculature", + "abnormal heart morphology", + "Cryptorchidism", + "heart plus pericardium", + "Abnormal heart morphology", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "Fetal ultrasound soft marker", + "excretory system", + "circulatory system", + "body proper", + "abnormal cardiovascular system morphology", + "circulatory organ", + "viscus", + "Gastrointestinal atresia", + "trunk", + "limb endochondral element", + "subdivision of digestive tract", + "delayed biological_process", + "Short forearm", + "increased size of the anatomical entity", + "abnormal limb bone", + "limb bone", + "abnormal number of anatomical enitites of type anatomical entity", + "Deviation of the thumb", "Abnormal male reproductive system physiology", - "multicellular organismal process", - "decreased sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "Abnormal ear physiology", - "Hearing impairment", - "sensory perception of sound", - "Abnormality of the ear", - "abnormality of ear physiology", - "abnormality of anatomical entity physiology", - "abnormal sensory perception", - "Hearing abnormality", + "subdivision of organism along appendicular axis", + "radius bone hypoplasia", + "Functional abnormality of male internal genitalia", + "abnormal anatomical entity morphology in the pectoral complex", + "aplasia or hypoplasia of anatomical entity", + "abnormal appendicular skeleton morphology", + "endochondral element", + "pectoral appendage", + "Deviation of the hand or of fingers of the hand", + "abnormal primary metabolic process", + "Stage 5 chronic kidney disease", + "abnormal musculature of manus", + "mesoderm-derived structure", + "abnormal forelimb morphology", + "abnormal long bone morphology", + "forelimb zeugopod bone hypoplasia", + "anatomical entity hypoplasia in independent continuant", + "abnormality of internal male genitalia physiology", + "organism subdivision", + "Abnormality of the musculoskeletal system", + "Limb undergrowth", + "ectoderm-derived structure", + "structure with developmental contribution from neural crest", + "long bone", + "abnormal testis morphology", + "forelimb zeugopod", + "male reproductive organ", + "cellular component organization or biogenesis", + "multicellular anatomical structure", + "forelimb endochondral element", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "decreased length of anatomical entity in independent continuant", + "skeleton of pectoral complex", + "abnormal anus morphology", + "Abnormality of metabolism/homeostasis", + "musculature of limb", + "negative regulation of biosynthetic process", + "decreased length of forelimb zeugopod bone", + "orifice", + "DNA metabolic process", + "regulation of macromolecule biosynthetic process", + "alimentary part of gastrointestinal system", + "Abnormal reproductive system morphology", + "muscle organ", + "abnormal anatomical entity length", + "musculature of pectoral complex", + "thoracic cavity element", + "multicellular organism", + "absent anatomical entity in the multicellular organism", + "abnormal organelle organization", + "cellular organisms", + "Abnormality of the musculature", + "thoracic segment of trunk", + "abnormal digit", + "programmed DNA elimination", + "digit", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormality of anatomical entity height", + "bone of appendage girdle complex", + "metabolic process", + "multi-limb segment region", + "abnormal cellular process", + "root", + "appendage", + "Abnormal upper limb bone morphology", + "abnormality of kidney physiology", + "negative regulation of cellular biosynthetic process", + "Abnormal internal genitalia", + "regulation of cellular process", + "decreased height of the multicellular organism", + "Short long bone", + "male gamete generation", + "skeleton", + "Abnormal external genitalia", + "negative regulation of biological process", + "abnormal growth", + "independent continuant", + "abnormal intestine morphology", + "aplastic manual digit 1", + "reproductive system", + "organic cyclic compound metabolic process", + "segment of autopod", + "anal region", + "paired limb/fin skeleton", + "Growth abnormality", + "abnormal palmar part of manus morphology", + "programmed DNA elimination by chromosome breakage", + "regulation of gene expression", + "Small thenar eminence", + "obsolete cellular nitrogen compound metabolic process", + "organelle organization", + "Abnormal anus morphology", + "protein-DNA complex organization", + "arm", + "abnormal kidney", + "Abnormality of chromosome stability", + "abnormal manus", + "phenotype by ontology source", + "Abnormal thumb morphology", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "negative regulation of gene expression", + "Abnormality of the digestive system", + "regulation of macromolecule metabolic process", + "acropodium region", + "anatomical entity", + "palmar part of manus", + "Aplasia/hypoplasia involving the skeleton", + "Deviation of finger", + "negative regulation of metabolic process", + "alimentary part of gastrointestinal system atresia", + "cellular component organization", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abdominal segment element", + "abnormal thenar eminence", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "bone of pectoral complex", + "entity", + "subdivision of skeletal system", + "biological_process", + "Abnormal forearm bone morphology", + "Abnormality of the skeletal system", + "terminal part of digestive tract", + "absent anatomical entity in the limb", + "continuant", + "Abnormality of limbs", + "Short stature", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", + "anatomical entity hypoplasia", + "obsolete heterocycle metabolic process", + "non-functional anatomical entity", + "thoracic segment organ", + "aplasia or hypoplasia of radius bone", + "abnormal spatial pattern of anatomical entity", + "protein-containing complex organization", + "material entity", + "abdomen element", + "negative regulation of cellular metabolic process", + "appendicular skeletal system", + "anatomical structure", "decreased qualitatively biological_process", - "reproductive system", - "abnormal testis morphology", - "abnormal sensory perception of sound", - "sensory perception of mechanical stimulus", - "abnormal size of multicellular organism", - "decreased size of the multicellular organism", - "abnormality of anatomical entity height", - "Abnormality of body height", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", + "abnormal cellular component organization", + "upper limb segment", + "appendicular skeleton", + "subdivision of organism along main body axis", + "abnormal biological_process", + "abnormal cell", + "macromolecule metabolic process", + "appendage girdle complex", + "Abnormal long bone morphology", + "skeleton of limb", + "muscle structure", + "material anatomical entity", + "external male genitalia", + "chromatin organization", + "pectoral appendage musculature", + "abnormal metabolic process", + "abnormal forelimb zeugopod morphology", + "cellular metabolic process", + "Non-obstructive azoospermia", "biological regulation", - "metabolic process", - "cellular process", - "abnormal primary metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "primary metabolic process", - "organic substance metabolic process", - "regulation of cellular process", + "regulation of cellular biosynthetic process", + "forelimb zeugopod skeleton", + "abnormal limb morphology", "regulation of metabolic process", - "negative regulation of biological process", - "nucleobase-containing compound metabolic process", - "organic cyclic compound metabolic process", - "obsolete heterocycle metabolic process", - "cellular component organization", - "regulation of biosynthetic process", + "Abnormality of limb bone morphology", "regulation of cellular metabolic process", - "negative regulation of cellular process", - "protein-containing complex organization", - "regulation of gene expression", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "programmed DNA elimination", - "cellular metabolic process", - "obsolete cell", - "negative regulation of gene expression", + "abnormality of renal system physiology", + "quality", + "regulation of biological process", + "changed developmental process rate", + "lateral structure", + "abnormal anatomical entity morphology in the independent continuant", + "limb segment", + "abnormal anatomical entity morphology in the palmar part of manus", + "subdivision of trunk", + "abnormal phenotype by ontology source", + "absent manual digit", + "abnormal chromatin organization", "Chromosome breakage", - "regulation of cellular biosynthetic process", - "negative regulation of biosynthetic process", - "negative regulation of cellular metabolic process", - "DNA metabolic process", - "abnormal upper urinary tract", - "U-shaped anatomical entity", - "renal system", - "abnormal shape of continuant", - "Abnormality of the kidney", - "cavitated compound organ", - "abnormal ear", - "abdominal segment element", - "abdomen", - "abnormal kidney", - "concave 3-D shape anatomical entity", + "Hypoplasia of the radius", + "paired limb/fin", + "decreased size of the anatomical entity in the independent continuant", + "abnormal size of multicellular organism", + "bone element", + "All", + "anatomical collection", + "abnormal programmed DNA elimination by chromosome breakage", + "negative regulation of cellular process", + "decreased qualitatively reproductive process", "genitourinary system", - "excretory system", - "Horseshoe kidney", - "3-D shape anatomical entity", - "Abnormality of the genitourinary system", - "abnormal renal system", - "Abnormality of the upper urinary tract", - "kidney", - "Pelvic kidney", - "Abnormal localization of kidney", - "subdivision of trunk", - "abdomen element", - "shape anatomical entity in independent continuant", - "abnormal kidney morphology", - "Abnormality of the urinary system", - "Abnormal erythroid lineage cell morphology", - "abnormal erythroid lineage cell morphology", - "nucleic acid metabolic process", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "pigmentation", - "Hypermelanotic macule", - "reproductive process", - "abnormal pigmentation", - "increased pigmentation in independent continuant", - "Functional abnormality of male internal genitalia", - "increased biological_process in independent continuant", - "Hyperpigmentation of the skin", - "increased qualitatively biological_process in independent continuant", - "Abnormality of skin morphology", - "Cafe-au-lait spot", - "abnormal metabolic process", - "changed biological_process rate", - "abnormal pigmentation in independent continuant", - "increased qualitatively biological_process", - "abnormal skin of body morphology", - "changed biological_process rate in independent continuant", - "Localized skin lesion", - "abnormal multicellular organismal reproductive process", - "anatomical point", - "abnormally increased volume of anatomical entity", - "Bulbous nose", - "external nose", - "negative regulation of macromolecule metabolic process", - "abnormally increased volume of nose", - "abnormal nose morphology", - "Abnormal external nose morphology", - "abnormal cellular process", - "olfactory organ", - "Abnormality of male external genitalia", - "nose", - "increased size of the anatomical entity", - "abnormal nose tip morphology", - "Abnormality of the nose", - "Short finger", - "decreased length of manual digit", - "decreased length of manual digit 1", - "Short digit", - "decreased length of digit", - "bone element hypoplasia in face", - "subdivision of tube", - "digestive system", - "abnormal mandible morphology", - "obsolete cellular aromatic compound metabolic process", - "immaterial entity", - "dermal skeleton", - "primary subdivision of skull", - "abnormal external male genitalia", - "digestive tract", - "Abnormal jaw morphology", - "abnormal biological_process in independent continuant", - "Abnormality of the mouth", - "anatomical entity hypoplasia in face", - "organelle organization", - "dermal bone", - "jaw skeleton", - "facial bone", - "increased pigmentation", - "mandible", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "facial bone hypoplasia", - "Abnormality of digestive system morphology", - "aplasia or hypoplasia of mandible", - "head bone", - "dermal skeletal element", - "aplasia or hypoplasia of skull", - "subdivision of digestive tract", - "abnormal digestive system", - "jaw region", - "neural crest-derived structure", - "dentary", - "Abnormal facial skeleton morphology", "forelimb skeleton", - "abnormal head bone morphology", - "Abnormality of the digestive system", - "mouth", - "anatomical structure", - "Aplasia/Hypoplasia involving bones of the skull", - "dermatocranium", - "bone of jaw", - "skeleton of limb", - "intramembranous bone", - "bone of lower jaw", - "autopodial extension", - "Abnormal oral morphology", - "abnormal forebrain morphology", - "hematopoietic system", - "myeloid cell", - "erythroid lineage cell", - "blood cell", - "biogenic amine secreting cell", - "Blepharophimosis", - "leukocyte", - "abnormally decreased number of myeloid cell", - "system process", - "Neoplasm", - "abnormal bone marrow cell", - "Abnormal nasal morphology", - "abnormal anatomical entity length", - "abnormal number of anatomical enitites of type cell", - "cranial skeletal system", - "abnormally decreased number of cell", - "abnormal nitrogen compound metabolic process", - "abnormal immune system", - "oxygen accumulating cell", - "hemolymphoid system", - "Decreased head circumference", - "hematopoietic cell", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", - "abnormal bone marrow cell morphology", - "decreased biological_process", - "serotonin secreting cell", - "abnormal craniocervical region morphology", - "Thrombocytopenia", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type myeloid cell", - "tissue", - "Abnormality of the immune system", + "Abnormal cellular physiology", + "organic substance metabolic process", + "obsolete nitrogen compound metabolic process", + "abnormal upper urinary tract", + "musculoskeletal system", + "delayed growth", + "abnormal cardiovascular system", + "skeletal system", + "phenotype", + "nucleobase-containing compound metabolic process", + "absent digit", + "decreased length of long bone", + "primary metabolic process", + "skeletal element", + "zeugopod", + "autopodial extension", + "bone element hypoplasia in independent continuant", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "process", + "nucleic acid metabolic process", + "aplasia or hypoplasia of skeleton", + "forelimb", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal large intestine morphology", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "arm bone", + "abnormal rectum morphology", + "abnormal limb long bone morphology", + "manual digit plus metapodial segment", + "abnormal limb bone morphology", + "radius endochondral element", + "Abnormality of digestive system morphology", + "thenar eminence", + "manus", + "abnormal limb", + "compound organ", + "zeugopodial skeleton", + "obsolete cell", + "limb long bone", + "Abnormality of the urinary system", "forelimb bone", - "Abnormality of thrombocytes", - "obsolete cellular nitrogen compound metabolic process", - "Micrognathia", - "phenotype by ontology source", + "abnormal radius bone morphology", + "system", + "aplasia or hypoplasia of manual digit 1", + "Abnormality of the anus", + "organ system subdivision", + "abnormal gamete generation", + "Abnormal morphology of the radius", + "manual digit", + "Abnormal appendicular skeleton morphology", + "decreased size of the anatomical entity", + "Forearm undergrowth", + "palmar/plantar part of autopod", + "external soft tissue zone", + "Abnormality of limb bone", + "abnormal arm", + "absent anatomical entity in the forelimb", + "occurrent", + "organ", + "heart", + "abnormal manual digit morphology in the manus", + "abnormal DNA metabolic process", + "radius bone", + "deviation of anatomical entity", + "multicellular organismal process", + "obsolete cellular aromatic compound metabolic process", + "Aplasia/hypoplasia involving forearm bones", + "forelimb long bone", + "absent sperm in the semen", + "Hydronephrosis", + "decreased length of anatomical entity", + "Abnormality of cardiovascular system morphology", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "limb", "cell", - "Short long bone", - "abnormal blood cell", - "shape kidney", - "Abnormal forearm morphology", - "abnormally decreased number of anatomical entity", - "abnormal platelet", - "Abnormal external genitalia", - "Abnormal leukocyte count", - "male reproductive system", - "limb bone", - "abnormal cell morphology", - "growth", - "Abnormal myeloid cell morphology", - "increased size of the anatomical entity in independent continuant", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "abnormal forelimb zeugopod bone", + "Upper limb undergrowth", + "limb skeleton subdivision", + "trunk region element", + "pectoral complex", + "Opisthokonta", + "paired limb/fin segment", + "Abnormal cellular phenotype", + "decreased size of the radius bone", + "abnormal skeletal system", + "forelimb zeugopod bone", "subdivision of skeleton", - "protein-containing material entity", - "biological_process", + "endochondral bone", + "Aplasia/Hypoplasia of the radius", "abnormal anatomical entity", - "paired limb/fin", - "motile cell", - "visual system", - "abnormal mouth morphology", - "absent anatomical entity in the limb", - "Abnormality of the palpebral fissures", - "abnormal size of palpebral fissure", - "eye", - "orbital region", - "abnormality of male reproductive system physiology", - "abnormal ocular adnexa", - "ear", - "Abnormal nasal tip morphology", - "Neoplasm by anatomical site", - "Abnormality of the ocular adnexa", - "abnormal ocular adnexa morphology", - "subdivision of head", - "entire sense organ system", - "Abnormal cellular phenotype", - "Abnormality of the orbital region", - "bone of craniocervical region", - "abnormal eyelid morphology", - "disconnected anatomical group", - "absent anatomical entity in the forelimb", - "abnormal skin of body", - "palpebral fissure", - "decreased length of palpebral fissure", - "camera-type eye", - "Abnormal ocular adnexa morphology", - "Abnormal size of the palpebral fissures", - "bone of appendage girdle complex", - "Narrow palpebral fissure", - "aplastic anatomical entity", - "abnormal face", - "Abnormality of metabolism/homeostasis", - "decreased width of the anatomical entity in independent continuant", - "autopodial skeleton", - "Irregular hyperpigmentation", - "delayed biological_process", + "Abnormal forearm morphology", + "abnormal external genitalia", + "abnormal size of anatomical entity", + "anatomical system", + "digit 1", + "aplasia or hypoplasia of manual digit", + "organism", + "autopod region", + "skeleton of manus", + "cardiovascular system", + "manual digitopodium region", "abnormal anatomical entity morphology in the manus", - "abnormal limb bone morphology", - "erythrocyte", - "cellular component organization or biogenesis", - "Phenotypic abnormality", - "Abnormality of the face", - "abnormal digit morphology", - "central nervous system", + "agenesis of anatomical entity", + "Abnormality of the hand", + "abnormal autopod region morphology", + "bone of free limb or fin", + "Absent thumb", + "anterior region of body", + "aplastic anatomical entity", + "Aplasia/hypoplasia involving bones of the extremities", + "manual digit 1", + "protein-containing material entity", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "cellular process", + "Abnormal digit morphology", "absent anatomical entity", - "abnormal orbital region", - "orifice", - "bone marrow cell", - "abnormal manus", - "Cryptorchidism", - "abnormally localised anatomical entity", - "non-connected functional system", - "abnormal leukocyte morphology", - "abnormal cellular metabolic process", - "acropodium region", + "Short thumb", + "abnormal manual digit 1 morphology", + "digit 1 plus metapodial segment", + "abnormal digit morphology", + "digit plus metapodial segment", + "Abnormal finger morphology", + "abnormal male reproductive organ morphology", + "autopodial skeleton", "Finger aplasia", - "digitopodium region", - "Abnormal internal genitalia", - "decreased width of the palpebral fissure", - "germ cell", - "abnormal spermatogenesis", - "abnormal anatomical entity morphology in the independent continuant", - "segment of manus", - "increased pigmentation in skin of body", - "manual digit 1", - "anatomical conduit", - "Upper limb undergrowth", - "aplasia or hypoplasia of manual digit 1", - "mandible hypoplasia", - "skeleton of manus", - "abnormal programmed DNA elimination by chromosome breakage", - "Abnormality of brain morphology", - "Abnormal leukocyte morphology", - "skeleton", + "manual digit 1 plus metapodial segment", + "Neoplasm", + "manual digit 1 or 5", + "pectoral appendage skeleton", + "abnormal manus morphology", + "primary circulatory organ", + "digit 1 or 5", + "Aplasia/Hypoplasia of the thumb", + "regulation of biosynthetic process", + "absent anatomical entity in the independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Abnormal spermatogenesis", + "Abnormal hand morphology", + "decreased spermatogenesis", + "abnormal kidney morphology", + "main body axis", + ], + }, + { + "id": "MONDO:0013499", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group P", + "xref": ["DOID:0111092", "GARD:15731", "OMIM:613951"], + "provided_by": "phenio_nodes", + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.", + "synonym": [ + "FANCP", + "Fanconi Anemia, complementation group type P", + "Fanconi anaemia caused by mutation in SLX4", + "Fanconi anaemia caused by mutation in Slx4", + "Fanconi anaemia complementation group type P", + "Fanconi anemia caused by mutation in SLX4", + "Fanconi anemia caused by mutation in Slx4", + "Fanconi anemia complementation group type P", + "Fanconi anemia, complementation group P", + "SLX4 Fanconi anaemia", + "SLX4 Fanconi anemia", + "Slx4 Fanconi anaemia", + "Slx4 Fanconi anemia", + ], + "namespace": "MONDO", + "has_phenotype": [ + "HP:0002984", + "HP:0009777", + "HP:0000957", + "HP:0000252", + "HP:0002860", + "HP:0001510", + "HP:0000581", + "HP:0001876", + "HP:0000347", + "HP:0009778", + "HP:0000414", + "HP:0001903", + "HP:0012745", + "HP:0000085", + "HP:0003221", + "HP:0004322", + "HP:0000365", + "HP:0000028", + "HP:0000125", + "HP:0001045", + ], + "has_phenotype_label": [ + "Hypoplasia of the radius", "Absent thumb", - "Abnormality of skull size", - "Abnormal digit morphology", - "bone element", - "abnormal cell", - "abnormal manual digit morphology in the manus", - "aplasia or hypoplasia of manual digit", - "ocular adnexa", - "Abnormality of reproductive system physiology", - "abnormal platelet morphology", - "digit plus metapodial segment", - "abnormally decreased number of platelet", - "Abnormal platelet morphology", - "Aplasia/hypoplasia involving bones of the hand", - "manual digitopodium region", - "radius endochondral element", - "abnormal immune system morphology", - "Forearm undergrowth", - "Aplasia/Hypoplasia of fingers", - "regulation of biological process", - "Abnormal thumb morphology", - "abnormal reproductive system", - "reproductive structure", - "male reproductive organ", - "manual digit 1 or 5", - "Abnormal hand morphology", - "abnormal manual digit morphology in the independent continuant", - "abnormal digit", - "absent manual digit", - "digit 1 or 5", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormality of the hand", - "subdivision of organism along main body axis", - "Aplasia/Hypoplasia of the thumb", - "agenesis of anatomical entity", - "absent digit", - "absent anatomical entity in the independent continuant", - "subdivision of organism along appendicular axis", - "abnormal DNA metabolic process", - "abnormal chromatin organization", - "decreased size of the mandible", - "forelimb", - "Aplasia/Hypoplasia of facial bones", + "Cafe-au-lait spot", + "Microcephaly", + "Squamous cell carcinoma", + "Growth delay", + "Blepharophimosis", + "Pancytopenia", + "Micrognathia", + "Short thumb", + "Bulbous nose", + "Anemia", + "Short palpebral fissure", + "Horseshoe kidney", + "Chromosomal breakage induced by crosslinking agents", + "Short stature", + "Hearing impairment", + "Cryptorchidism", + "Pelvic kidney", + "Vitiligo", + ], + "has_phenotype_count": 20, + "has_phenotype_closure": [ + "HP:0000086", + "GO:0022414", + "UPHENO:0053580", + "UPHENO:0005597", + "UPHENO:0049367", + "UPHENO:0002598", + "UBERON:0004054", + "UBERON:0000473", + "UBERON:0001968", + "HP:0000078", + "UPHENO:0078452", + "GO:0048232", + "UPHENO:0049940", + "UPHENO:0052778", + "HP:0000032", + "CL:0000039", + "CL:0000413", 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"HP:0032251", + "UPHENO:0026028", + "UPHENO:0084928", + "UPHENO:0085302", + "GO:0071840", + "HP:0002818", + "HP:0002813", + "HP:0000277", + "UPHENO:0046411", + "HP:0009122", + "HP:0000347", + "HP:0025031", + "GO:0006725", + "UPHENO:0087501", + "UPHENO:0076800", + "HP:0025033", + "UBERON:0004768", + "UPHENO:0081141", + "UBERON:0004088", + "UBERON:0000025", + "UBERON:0012360", + "UBERON:0011158", + "UBERON:0010313", + "CL:0000015", + "UPHENO:0002830", + "UBERON:0004288", + "UBERON:0011595", + "UPHENO:0053644", + "UBERON:0007842", + "UPHENO:0087924", + "UBERON:0007914", + "HP:0011821", + "UPHENO:0076803", + "UPHENO:0081091", + "UPHENO:0080165", + "HP:0009118", + "UBERON:0001684", + "UBERON:0015021", + "UBERON:0001708", + "UBERON:0003135", + "HP:0009116", + "UBERON:0003457", + "UPHENO:0081786", + "UPHENO:0076692", + "UPHENO:0069249", + "HP:0034261", + "GO:0050877", + "HP:0011927", + "HP:0009381", + "UPHENO:0011498", + "UBERON:0004381", + "UPHENO:0046624", + "GO:0031326", + "UPHENO:0065599", + "UBERON:0000466", + "UPHENO:0087907", + "UBERON:0034929", + "GO:0008150", + "UBERON:0006983", + "UPHENO:0084727", + "UPHENO:0076805", + "UPHENO:0088168", + "UPHENO:0084715", + "UPHENO:0087430", + "UBERON:0002268", + "OBI:0100026", + "UPHENO:0001072", + "UBERON:0002470", + "UBERON:0007827", + "CL:0000300", + "HP:0012130", + "UBERON:0001008", + "UPHENO:0041629", + "UBERON:0002398", + "UBERON:0009569", + "UPHENO:0082129", + "UPHENO:0074572", + "UBERON:0002417", + "HP:0100542", + "UBERON:0000916", + "UPHENO:0002907", + "HP:0010935", + "UPHENO:0002595", + "UBERON:0004122", + "UBERON:0010323", + "UBERON:0000489", + "GO:0031052", + "HP:0000085", + "UBERON:8450002", + "UBERON:0005173", + "UPHENO:0041226", + "UBERON:0011143", + "UBERON:0005177", + "UBERON:0008962", + "UBERON:0001463", + "UBERON:0008907", + "HP:0012210", + "UPHENO:0087427", + "UPHENO:0050113", + "GO:0008152", + ], + "has_phenotype_closure_label": [ + "Pelvic kidney", + "Ectopic kidney", + "reproductive process", + "Abnormal testis morphology", + "abnormal male reproductive system morphology", + "Abnormality of male external genitalia", + "Abnormal male reproductive system physiology", "male gamete generation", - "zeugopodial skeleton", - "Abnormal appendicular skeleton morphology", - "decreased height of the anatomical entity", - "Hypoplastic facial bones", - "haploid cell", - "Abnormal renal morphology", - "Abnormality of limbs", - "increased biological_process", - "abnormal central nervous system morphology", - "root", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal nervous system", - "male germ cell", - "lateral structure", - "limb", - "multi-limb segment region", - "abnormal renal system morphology", - "Growth abnormality", - "abnormal facial skeleton morphology", - "nervous system", - "eukaryotic cell", - "increased biological_process in skin of body", - "abnormal growth", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "Abnormal nervous system morphology", - "forelimb zeugopod", - "Abnormal morphology of the radius", - "bone of free limb or fin", - "decreased size of the anatomical entity in the independent continuant", - "abnormal limb", "sexual reproduction", - "anucleate cell", - "abnormal limb morphology", - "bone element hypoplasia in independent continuant", - "abnormal hematopoietic cell morphology", + "developmental process involved in reproduction", + "multicellular organismal reproductive process", + "decreased developmental process", + "absent gamete", + "sperm", + "reproductive structure", + "decreased qualitatively developmental process", + "decreased spermatogenesis", + "external male genitalia", + "testis", + "Abnormal reproductive system morphology", + "Azoospermia", + "male germ cell", + "male gamete", + "abnormally localised anatomical entity in independent continuant", + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "Abnormal external genitalia", + "organism substance", + "semen", + "reproduction", + "abnormal testis morphology", + "abnormal number of anatomical enitites of type sperm", + "male reproductive system", + "abnormal location of anatomical entity", + "spermatogenesis", + "absent anatomical entity in the semen", + "abnormal developmental process involved in reproduction", + "Functional abnormality of male internal genitalia", + "abnormal gamete", + "Abnormality of reproductive system physiology", + "haploid cell", + "reproductive system", + "Cryptorchidism", + "external genitalia", + "internal genitalia", + "gonad", + "abnormal reproductive system morphology", + "abnormal internal genitalia", + "germ cell", + "gamete", + "abnormality of reproductive system physiology", "absent germ cell", + "decreased qualitatively sensory perception of mechanical stimulus", + "abnormal developmental process", + "sensory perception", + "decreased sensory perception of sound", + "abnormal sensory perception", + "Hearing abnormality", + "abnormality of anatomical entity physiology", + "ear", + "multicellular organismal process", + "sensory perception of sound", + "system process", + "abnormal anatomical entity topology in independent continuant", + "decreased qualitatively sensory perception of sound", + "Short stature", + "abnormal size of multicellular organism", + "decreased height of the multicellular organism", + "abnormality of multicellular organism height", + "abnormal primary metabolic process", + "Abnormality of metabolism/homeostasis", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", "vestibulo-auditory system", - "forelimb endochondral element", - "abnormal forelimb zeugopod bone", - "abnormal forelimb zeugopod morphology", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "Abnormality of the upper limb", - "abnormal number of anatomical enitites of type hematopoietic cell", - "entity", - "abnormal long bone morphology", - "abnormal myeloid cell morphology", - "Abnormal forearm bone morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "anatomical collection", - "Abnormality of multiple cell lineages in the bone marrow", - "skeleton of pectoral complex", - "Abnormality of the nervous system", + "protein-DNA complex organization", + "nervous system process", + "abnormal nitrogen compound metabolic process", + "abnormal organelle organization", + "abnormal reproductive process", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "regulation of cellular metabolic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process", + "protein-containing complex organization", + "regulation of biological process", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", + "cellular metabolic process", "abnormal cellular component organization", - "appendicular skeletal system", - "Aplasia/hypoplasia involving forearm bones", - "tube", - "sensory perception", - "abnormal digestive system morphology", - "decreased length of anatomical entity", - "forelimb zeugopod bone hypoplasia", - "Short palpebral fissure", - "abnormal anatomical entity morphology in the brain", - "zeugopod", - "Aplasia/Hypoplasia of the radius", - "Growth delay", - "simple eye", - "shape anatomical entity", - "abnormal head", + "Chromosome breakage", + "negative regulation of gene expression", + "abnormal metabolic process", + "Chromosomal breakage induced by crosslinking agents", + "metabolic process", + "cellular process", + "abnormal DNA metabolic process", + "Abnormality of head or neck", + "craniocervical region", + "regional part of brain", + "aplasia or hypoplasia of telencephalon", + "Aplasia/Hypoplasia involving the central nervous system", + "facial bone hypoplasia", + "abnormal external genitalia", + "Abnormal renal morphology", "regional part of nervous system", - "digit 1", - "trunk", - "digit 1 plus metapodial segment", - "nose tip", - "skeletal element", - "Abnormality of the head", - "Abnormal upper limb bone morphology", - "endochondral bone", - "abnormal mouth", - "decreased length of anatomical entity in independent continuant", + "abnormal external male genitalia", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "visual system", + "Abnormal skull morphology", + "Abnormal cellular immune system morphology", + "Abnormal cerebral morphology", "arm bone", + "main body axis", + "abnormal kidney morphology", + "Narrow palpebral fissure", + "renal system", + "multi-tissue structure", + "axial skeleton plus cranial skeleton", + "abnormality of internal male genitalia physiology", + "Abnormality of the nervous system", + "sensory system", + "abnormal nervous system", + "organic substance metabolic process", + "Abnormality of the head", + "abnormal pigmentation", + "pigmentation", + "decreased length of forelimb zeugopod bone", + "changed biological_process rate in independent continuant", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "Abnormality of skin pigmentation", + "skeleton of limb", + "neural crest-derived structure", + "aplasia or hypoplasia of skull", + "increased qualitatively biological_process", + "anatomical collection", + "All", + "increased biological_process in skin of body", + "abnormally increased volume of nose", + "increased biological_process", + "abnormal myeloid cell morphology", + "increased pigmentation in independent continuant", + "Abnormal oral morphology", + "abnormal anatomical entity morphology", + "increased pigmentation", + "increased qualitatively biological_process in independent continuant", + "absent sperm", + "limb segment", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "Cafe-au-lait spot", + "primary subdivision of skull", + "obsolete cellular nitrogen compound metabolic process", + "abnormal integument", + "biological_process", + "obsolete multicellular organism reproduction", + "cellular organisms", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "Abnormality of chromosome stability", + "immaterial entity", + "abnormally localised testis", + "absent anatomical entity in the independent continuant", + "Aplasia/Hypoplasia of the thumb", + "bone cell", + "Abnormal myeloid cell morphology", "abnormal manus morphology", - "primary subdivision of cranial skeletal system", - "forelimb long bone", - "quality", - "forelimb zeugopod bone", - "radius bone", - "radius bone hypoplasia", - "abnormal male reproductive organ morphology", + "Neoplasm", + "digit", + "Hyperpigmentation of the skin", + "abnormal manual digit 1 morphology", + "Short thumb", + "integumental system", + "absent anatomical entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "gamete generation", + "protein-containing material entity", + "abnormal skeletal system morphology", + "Abnormal digit morphology", + "abnormal immune system morphology", + "Absent thumb", + "abnormal autopod region morphology", + "agenesis of anatomical entity", + "ectoderm-derived structure", + "abnormal anatomical entity morphology in the manus", + "abnormal facial skeleton morphology", + "negative regulation of cellular process", + "abnormal limb", "bone marrow", - "secretory cell", - "arm", - "immune system", - "face", + "skeleton of manus", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "organism", + "Neoplasm of the skin", + "anatomical system", + "segment of autopod", + "organic cyclic compound metabolic process", + "aplastic manual digit 1", + "dentary", + "independent continuant", + "abnormal growth", + "abnormal leukocyte morphology", + "abnormal size of anatomical entity", + "material anatomical entity", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", "manual digit plus metapodial segment", - "Microcephaly", - "abnormal craniocervical region", - "limb skeleton subdivision", - "Short forearm", - "anatomical entity hypoplasia in independent continuant", - "Short stature", + "Abnormal forearm morphology", + "abnormal anatomical entity", + "decreased size of the anatomical entity in the independent continuant", + "abnormal cellular process", + "secretory cell", + "Abnormal nervous system morphology", + "abnormal limb bone", + "sense organ", + "bone element", + "anatomical conduit", + "abnormal limb morphology", + "forelimb zeugopod skeleton", + "facial skeleton", + "paired limb/fin", + "Hypoplasia of the radius", + "abnormal head morphology", + "abnormal multicellular organismal reproductive process", + "manual digit", + "U-shaped anatomical entity", + "multi-limb segment region", + "endochondral element", + "Forearm undergrowth", + "abnormal biological_process in independent continuant", + "decreased size of the anatomical entity", + "skeletal element", + "zeugopod", + "body proper", + "central nervous system", "Abnormality of limb bone", - "axial skeletal system", - "Abnormal mandible morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "negative regulation of metabolic process", + "head", + "digit plus metapodial segment", + "external soft tissue zone", + "abnormal skin of body morphology", + "increased biological_process in independent continuant", + "increased size of the anatomical entity", + "limb", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "trunk region element", + "Abnormality of skin morphology", "abnormal camera-type eye morphology", - "compound organ", - "autopod region", - "abnormally localised anatomical entity in independent continuant", - "musculoskeletal system", - "decreased size of the anatomical entity", - "Limb undergrowth", - "abnormal nose", - "long bone", - "Abnormal cellular physiology", + "zeugopodial skeleton", + "limb long bone", + "Short forearm", + "delayed biological_process", + "subdivision of digestive tract", + "limb endochondral element", "Macule", - "Aplasia/Hypoplasia of the mandible", - "abnormal biological_process", - "multi-tissue structure", - "skin of body", - "Eumetazoa", - "segment of autopod", - "abnormal appendicular skeleton morphology", + "negative regulation of biosynthetic process", + "long bone", + "material entity", + "decreased width of the palpebral fissure", + "Abnormal appendicular skeleton morphology", + "Abnormal skeletal morphology", + "Abnormal forebrain morphology", + "forelimb", + "decreased size of the anatomical entity in the pectoral complex", + "autopodial skeleton", + "Abnormal facial skeleton morphology", + "Aplasia/hypoplasia of the extremities", + "decreased qualitatively reproductive process", + "Hypoplastic facial bones", + "Aplasia/hypoplasia involving bones of the hand", + "negative regulation of macromolecule biosynthetic process", + "germ line cell", + "bone element hypoplasia in independent continuant", + "abnormal gamete generation", + "leukocyte", + "abnormal skin of body", + "Abnormality of bone marrow cell morphology", + "abnormal cellular metabolic process", + "Aplasia/Hypoplasia of facial bones", + "musculoskeletal system", + "absent digit", + "phenotype", + "Abnormal cell morphology", + "quality", + "anatomical entity hypoplasia", + "forelimb bone", + "Morphological central nervous system abnormality", + "Abnormality of the urinary system", + "forelimb skeleton", + "genitourinary system", + "primary metabolic process", + "Abnormality of the skin", + "forelimb endochondral element", "abnormal number of anatomical enitites of type anatomical entity", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "limb bone", + "abnormal craniocervical region morphology", + "continuant", + "lateral structure", "integument", - "integumental system", + "skeleton of pectoral complex", + "decreased length of anatomical entity in independent continuant", "paired limb/fin segment", - "Abnormality of the integument", - "immaterial anatomical entity", - "abnormal jaw skeleton morphology", - "endochondral element", + "compound organ", + "eye", + "skeleton", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "Abnormal finger morphology", + "Abnormal erythrocyte morphology", + "forelimb zeugopod", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "appendage", + "root", + "subdivision of skeleton", + "Aplasia/Hypoplasia of the radius", + "endochondral bone", + "paired limb/fin skeleton", + "abnormal spermatogenesis", + "organelle organization", + "postcranial axial skeletal system", + "abnormal digit morphology", "skeleton of lower jaw", - "abnormal radius bone morphology", - "manual digit", - "Neoplasm of the skin", - "abnormal number of anatomical enitites of type leukocyte", - "regulation of macromolecule metabolic process", - "continuant", - "aplastic manual digit 1", - "abnormal limb long bone morphology", - "abnormally decreased number of hematopoietic cell", - "absent sperm in the semen", - "decreased qualitatively sensory perception of sound", - "abnormal palpebral fissure", - "Eukaryota", - "forebrain", - "Abnormal skull morphology", - "process", - "organ system subdivision", - "testis", - "craniocervical region", - "Abnormal cell morphology", - "manus", - "Abnormal forebrain morphology", - "male organism", - "Aplasia/Hypoplasia of the cerebrum", - "abnormal skull morphology", - "Abnormal reproductive system morphology", - "Pancytopenia", - "Morphological central nervous system abnormality", - "facial skeleton", + "subdivision of organism along appendicular axis", "skull", - "decreased size of the radius bone", - "membrane bone", - "absent sperm in the independent continuant", - "internal male genitalia", - "occurrent", - "abnormal skeletal system morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "phenotype", - "decreased length of long bone", + "limb skeleton subdivision", + "abnormal forelimb zeugopod bone", + "Abnormal ocular adnexa morphology", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "decreased length of anatomical entity", + "bone of pectoral complex", + "entity", + "subdivision of skeletal system", + "nervous system", + "forelimb zeugopod bone", + "Abnormality of brain morphology", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", + "forelimb zeugopod bone hypoplasia", + "abnormal limb bone morphology", + "abnormal phenotype by ontology source", + "decreased size of the mandible", + "absent manual digit", + "abnormal radius bone morphology", + "organ system subdivision", + "decreased length of palpebral fissure", + "abnormal blood cell", + "erythrocyte", "Abnormality of limb bone morphology", - "external soft tissue zone", - "Abnormal skeletal morphology", - "axial skeleton plus cranial skeleton", - "decreased width of the anatomical entity", - "abnormal forelimb morphology", - "Abnormal platelet count", - "lower jaw region", - "limb endochondral element", + "Abnormality of limbs", + "membrane bone", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "system", + "bone marrow cell", + "appendicular skeletal system", + "Abnormal nasal morphology", + "absent anatomical entity in the multicellular organism", + "hematopoietic system", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively biological_process", "anatomical entity", + "bone of appendage girdle complex", + "abnormal anatomical entity morphology in the pectoral complex", + "decreased biological_process", + "radius bone hypoplasia", + "aplasia or hypoplasia of anatomical entity", + "absent sperm in the semen", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "Abnormal forearm bone morphology", + "abnormal pigmentation in independent continuant", + "Abnormality of the ocular adnexa", + "abnormally localised anatomical entity", + "Micrognathia", + "Microcephaly", + "Abnormality of the musculoskeletal system", + "abnormality of ear physiology", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "Abnormality of digestive system morphology", + "abnormal number of anatomical enitites of type myeloid cell", "abnormal arm", - "Abnormality of the skin", - "abnormal telencephalon morphology", - "main body axis", - "aplasia or hypoplasia of radius bone", - "cellular organisms", - "aplasia or hypoplasia of telencephalon", - "abnormal brain morphology", - "abnormal limb bone", - "abnormal anatomical entity morphology", - "digestive system element", - "abnormal size of anatomical entity", - "germ line cell", - "Short thumb", - "bone cell", - "abnormal autopod region morphology", - "programmed DNA elimination by chromosome breakage", + "radius endochondral element", + "Aplasia/hypoplasia involving forearm bones", + "abnormal nose tip morphology", + "obsolete cellular aromatic compound metabolic process", "organism subdivision", - "abnormal bone marrow morphology", + "organ", + "abnormal male reproductive organ morphology", + "occurrent", + "skeletal system", + "motile cell", + "upper limb segment", + "appendicular skeleton", + "abnormal upper urinary tract", + "Limb undergrowth", + "abnormal face morphology", + "arm", + "abnormal nose morphology", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "decreased size of the radius bone", + "Abnormal cellular phenotype", + "subdivision of trunk", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "bone of lower jaw", + "mandible hypoplasia", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "abnormal mouth", + "male organism", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "digit 1 plus metapodial segment", + "abnormal skeletal system", + "subdivision of head", + "appendage girdle complex", "macromolecule metabolic process", + "manual digit 1", + "regulation of metabolic process", + "autopodial extension", + "abnormal face", + "abnormal telencephalon morphology", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "tissue", + "forelimb long bone", + "abnormal size of skull", + "cell", + "Abnormality of the mouth", + "Eumetazoa", + "negative regulation of cellular metabolic process", + "Eukaryota", + "decreased length of manual digit", + "abnormal central nervous system morphology", + "abnormal reproductive system", + "abnormal kidney", + "abnormal forebrain morphology", + "abnormal nervous system morphology", + "abnormal cell morphology", + "telencephalon", + "forebrain", + "blood cell", + "head bone", + "Abnormality of the genitourinary system", + "cranial skeletal system", + "postcranial axial skeleton", + "Decreased head circumference", + "pectoral complex", + "dermatocranium", + "Abnormal axial skeleton morphology", + "erythroid lineage cell", + "obsolete heterocycle metabolic process", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", + "mesoderm-derived structure", "Squamous cell carcinoma", - "bone of pectoral complex", "delayed growth", - "organism", - "obsolete nitrogen compound metabolic process", - "platelet", - "abdominal segment of trunk", - "digit", - "Abnormality of the skeletal system", - "3-D shape anatomical entity in independent continuant", - "anatomical system", - "aplasia or hypoplasia of anatomical entity", - "Abnormality of bone marrow cell morphology", - "abnormal anatomical entity topology in independent continuant", - "limb segment", - "appendage girdle complex", - "Abnormal axial skeleton morphology", - "appendicular skeleton", - "All", - "organism substance", - "Aplasia/Hypoplasia involving the central nervous system", - "protein-DNA complex organization", - "organ", - "paired limb/fin skeleton", - "postcranial axial skeletal system", - "trunk region element", - "pectoral complex", - "abnormal size of skull", - "Abnormality of the musculoskeletal system", - "chromatin organization", - "sensory system", - "upper urinary tract", - "skeletal system", + "axial skeletal system", + "Growth abnormality", + "aplasia or hypoplasia of manual digit", + "face", + "abnormal orbital region", + "Abnormal localization of kidney", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", + "kidney", + "abnormal biological_process", + "Growth delay", + "digestive system element", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "decreased width of the anatomical entity", + "Abnormality of the upper urinary tract", + "Vitiligo", + "acropodium region", + "Short palpebral fissure", + "Abnormal eyelid morphology", "multi organ part structure", - "structure with developmental contribution from neural crest", - "Abnormal long bone morphology", - "Non-obstructive azoospermia", - "absent anatomical entity in the multicellular organism", - "anterior region of body", - "abnormal anatomical entity morphology in the pectoral complex", - "decreased length of forelimb zeugopod bone", - "Aplasia/hypoplasia of the extremities", - "Abnormal cellular immune system morphology", - "subdivision of skeletal system", - "sense organ", - "abnormal external nose morphology", - "telencephalon", - "manual digit 1 plus metapodial segment", - "abnormal postcranial axial skeleton morphology", - "abnormal number of anatomical enitites of type platelet", - "limb long bone", + "hemolymphoid system", + "organ part", + "Abnormality of the orbital region", + "Abnormal size of the palpebral fissures", + "non-connected functional system", + "orbital region", + "camera-type eye", + "Abnormality of the hand", + "radius bone", "Anemia", - "Hypoplasia of the radius", - "Opisthokonta", - "brain", - "upper limb segment", - "Abnormal cerebral morphology", - "postcranial axial skeleton", - "abnormal organelle organization", - "abnormal head morphology", - "head", - "abnormal integument", - "pectoral appendage", - "Metazoa", + "palpebral fissure", + "Abnormality of the ear", + "eyelid", + "Blepharophimosis", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "abdomen element", + "reproductive organ", + "Short long bone", + "abnormal skull morphology", + "abnormal palpebral fissure", + "Abnormal mandible morphology", + "abnormally decreased number of cell", + "abnormal size of palpebral fissure", + "Non-obstructive azoospermia", + "abnormal ocular adnexa", + "abnormal bone of pectoral complex morphology", + "orifice", + "ocular adnexa", + "simple eye", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "manus", + "abnormal eyelid morphology", + "decreased height of the anatomical entity", + "regulation of cellular process", + "Abnormality of the face", + "phenotype by ontology source", + "abnormal ocular adnexa morphology", + "Abnormality of the palpebral fissures", + "abnormal hematopoietic system", + "Abnormality of the immune system", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "abnormal limb long bone morphology", + "eukaryotic cell", + "hematopoietic cell", + "anucleate cell", + "changed biological_process rate", + "external nose", + "oxygen accumulating cell", "nucleate cell", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "abnormal number of anatomical enitites of type cell", + "sensory perception of mechanical stimulus", + "skin of body", + "Abnormal upper limb bone morphology", + "abnormally decreased number of anatomical entity", + "Abnormal immune system morphology", "pectoral appendage skeleton", + "abnormal blood cell morphology", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "absent sperm in the independent continuant", + "platelet", + "abnormal brain morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal immune system", "abnormal hematopoietic system morphology", - "Aplasia/hypoplasia involving the skeleton", - "abnormal hematopoietic system", - "Abnormal eyelid morphology", + "abnormal programmed DNA elimination by chromosome breakage", "specifically dependent continuant", - "Abnormality of blood and blood-forming tissues", - "abnormal bone of pectoral complex morphology", + "Abnormality of multiple cell lineages in the bone marrow", + "male reproductive organ", + "disconnected anatomical group", + "abnormal cell", + "cavitated compound organ", + "Abnormal leukocyte count", + "primary subdivision of cranial skeletal system", + "abnormal hematopoietic cell morphology", + "digit 1", + "abnormal platelet morphology", + "Abnormal platelet morphology", + "Abnormal leukocyte morphology", + "internal male genitalia", + "programmed DNA elimination", + "obsolete cell", + "decreased length of long bone", + "digestive system", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "abnormally decreased number of platelet", + "Abnormal platelet count", + "nucleobase-containing compound metabolic process", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "abnormal manus", + "bone element hypoplasia in face", + "digit 1 or 5", "U-shaped kidney", - "material anatomical entity", - "appendage", - "aplasia or hypoplasia of skeleton", - "Abnormality of skin pigmentation", - "eyelid", - "independent continuant", - "system", - "male gamete", - "ectoderm-derived structure", - "decreased size of the anatomical entity in the pectoral complex", - "abnormal nervous system morphology", - "nervous system process", - "body proper", - "abnormality of reproductive system physiology", - "regional part of brain", - "anatomical entity hypoplasia", - "abnormal blood cell morphology", - "material entity", - "multicellular organism", - "gamete", - "organ part", - "Abnormality of head or neck", + "bone of jaw", + "subdivision of tube", + "aplasia or hypoplasia of mandible", + "Abnormality of the digestive system", + "abnormal forelimb morphology", + "abnormal digestive system morphology", + "abnormal digit", + "lower jaw region", + "Pancytopenia", + "decreased width of the anatomical entity in independent continuant", + "abnormal head", + "jaw region", + "abnormality of anatomical entity height", + "subdivision of organism along main body axis", + "dermal skeletal element", + "Abnormality of the integument", + "increased size of the anatomical entity in independent continuant", + "abnormal male reproductive system", + "abnormal mouth morphology", + "mouth", + "abnormal mandible morphology", + "abnormal head bone morphology", + "Aplasia/Hypoplasia involving bones of the skull", + "Abnormality of body height", + "tube", + "Abnormality of the genital system", + "intramembranous bone", + "structure with developmental contribution from neural crest", + "bone of craniocervical region", + "anatomical entity hypoplasia in face", + "mandible", + "immune system", + "facial bone", + "Abnormality of thrombocytes", + "Upper limb undergrowth", + "jaw skeleton", + "dermal bone", + "negative regulation of biological process", + "digestive tract", + "aplasia or hypoplasia of manual digit 1", + "dermal skeleton", + "abnormal digestive system", + "abnormal ear", + "Abnormal jaw morphology", + "abnormal jaw skeleton morphology", + "Short finger", + "Short digit", + "anterior region of body", + "decreased length of manual digit 1", + "Abnormal nasal tip morphology", + "aplastic anatomical entity", + "Bulbous nose", + "Abnormal external nose morphology", + "entire sense organ system", + "abnormal external nose morphology", + "nose", + "immaterial anatomical entity", + "Abnormality of the nose", + "Aplasia/Hypoplasia of the mandible", + "abnormally decreased number of myeloid cell", + "abnormal nose", + "abnormally increased volume of anatomical entity", + "nose tip", + "anatomical point", + "olfactory organ", + "abnormal erythrocyte morphology", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", + "trunk", + "abnormal bone marrow cell", + "abnormal shape of continuant", + "excretory system", + "Abnormal cellular physiology", + "3-D shape anatomical entity in independent continuant", + "3-D shape anatomical entity", + "abnormal manual digit morphology in the independent continuant", + "shape anatomical entity in independent continuant", + "manual digit 1 plus metapodial segment", + "abdomen", + "biological regulation", + "abdominal segment of trunk", + "abdominal segment element", + "Abnormality of the kidney", + "Horseshoe kidney", + "developmental process", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "shape kidney", + "abnormal renal system", + "changed developmental process rate", "abnormal genitourinary system", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal phenotype by ontology source", - "abnormal skeletal system", - "mesoderm-derived structure", + "Abnormality of the male genitalia", + "manual digitopodium region", + "Abnormality of blood and blood-forming tissues", + "decreased length of digit", + "upper urinary tract", + "anatomical entity hypoplasia in independent continuant", + "shape anatomical entity", + "concave 3-D shape anatomical entity", + "abnormal renal system morphology", + "abnormal chromatin organization", + "chromatin organization", + "negative regulation of cellular biosynthetic process", + "pectoral appendage", + "regulation of gene expression", + "cellular component organization", ], }, { @@ -11325,16 +11325,16 @@ def autocomplete_response(): "namespace": "MONDO", "has_phenotype": [ "HP:0002749", - "HP:0034359", + "HP:0001942", + "HP:0003648", "HP:0001324", "HP:0003155", - "HP:0001942", "HP:0002148", "HP:0000124", "HP:0003109", - "HP:0003648", "HP:0002900", "HP:0002748", + "HP:0034359", "HP:0003076", "HP:0003355", "HP:0004322", @@ -11343,16 +11343,16 @@ def autocomplete_response(): ], "has_phenotype_label": [ "Osteomalacia", - "Impaired renal tubular reabsorption of phosphate", + "Metabolic acidosis", + "Lacticaciduria", "Muscle weakness", "Elevated circulating alkaline phosphatase concentration", - "Metabolic acidosis", "Hypophosphatemia", "Renal tubular dysfunction", "Hyperphosphaturia", - "Lacticaciduria", "Hypokalemia", "Rickets", + "Impaired renal tubular reabsorption of phosphate", "Glycosuria", "Aminoaciduria", "Short stature", @@ -11361,707 +11361,707 @@ def autocomplete_response(): ], "has_phenotype_count": 16, "has_phenotype_closure": [ - "UPHENO:0086132", - "UPHENO:0086128", - "UPHENO:0051801", - "HP:0003126", - "CHEBI:33256", - "CHEBI:37622", "UPHENO:0068565", - "CHEBI:16670", - "HP:0000093", + "CHEBI:37622", "CHEBI:15841", + "CHEBI:32988", "CHEBI:16541", - "HP:0000002", - "UPHENO:0015280", + "UPHENO:0068247", + "CHEBI:16670", + "GO:0040007", + "UPHENO:0081424", + "UPHENO:0086132", "UPHENO:0075195", - "UPHENO:0080351", + "UPHENO:0049874", "UPHENO:0020584", - "HP:0004322", - "HP:0001510", - "UPHENO:0081423", - "CHEBI:64709", - "CHEBI:25367", - "HP:0040156", + "UPHENO:0069254", + "UPHENO:0000541", + "UPHENO:0075159", + "UPHENO:0068169", "CHEBI:35605", - "CHEBI:36586", + "UPHENO:0068495", "CHEBI:33575", - "UPHENO:0068040", - "CHEBI:33709", - "UPHENO:0051930", - "UPHENO:0082542", - "UPHENO:0012541", - "UPHENO:0049874", - "UPHENO:0000543", - "UPHENO:0068491", "CHEBI:24651", - "CHEBI:72695", - "CHEBI:24833", + "UPHENO:0046286", "HP:0003355", - "UPHENO:0051670", - "UPHENO:0068538", - "CHEBI:18133", - "CHEBI:15693", - "UPHENO:0052116", - "CHEBI:33917", - "UPHENO:0051635", - "UPHENO:0078554", - "CHEBI:35381", - "CHEBI:36962", - "CHEBI:25806", - "UPHENO:0080659", - "HP:6000531", + "CHEBI:36587", + "UPHENO:0068091", + "HP:0031980", + "UPHENO:0051670", + "CHEBI:33709", + "UPHENO:0068040", + "CHEBI:33608", + "UPHENO:0068144", + "UPHENO:0068538", + "UPHENO:0080658", + "UPHENO:0000543", + "HP:0003076", + "HP:0000002", "HP:0033354", "UPHENO:0068054", - "CHEBI:33521", - "CHEBI:36914", - "CHEBI:33504", - "CHEBI:36916", - "CHEBI:29103", - "UPHENO:0000541", - "CHEBI:33674", - "HP:0020129", - "UPHENO:0081548", + "CHEBI:36962", + "CHEBI:25806", "CHEBI:17234", - "UPHENO:0076286", - "UPHENO:0051958", - "UPHENO:0051898", - "UPHENO:0051645", - "UPHENO:0034199", - "HP:0011042", - "GO:0055080", - "HP:0010929", - "CHEBI:33250", - "CHEBI:26216", - "HP:0002748", - "CHEBI:36915", - "CHEBI:60242", - "CHEBI:25213", - "CHEBI:25414", - "UPHENO:0068511", - "UPHENO:0051640", - "CHEBI:60911", - "UPHENO:0051739", - "UPHENO:0081544", - "HP:0003109", + "CHEBI:35381", + "CHEBI:18133", + "HP:0034359", + "UPHENO:0051191", + "CHEBI:33917", + "HP:0011038", + "GO:0003008", + "GO:0003014", + "UPHENO:0051280", + "HP:0011036", + "CHEBI:33504", + "CHEBI:33694", + "UPHENO:0077821", + "CHEBI:36357", + "PR:000018263", + "CHEBI:33675", + "HP:0004379", + "HP:0000079", + "CHEBI:35352", + "HP:0100529", + "UPHENO:0068971", + "CHEBI:33695", + "GO:0001503", + "CHEBI:50860", + "HP:0012379", + "BFO:0000020", + "UPHENO:0012541", + "UPHENO:0068491", + "CHEBI:36360", + "PR:000064867", + "UPHENO:0046362", + "UPHENO:0081777", + "UBERON:0009773", + "HP:6000531", "UPHENO:0068352", - "UPHENO:0051900", - "CHEBI:33304", - "HP:0012599", - "UBERON:0000174", + "CHEBI:23367", + "UPHENO:0076289", + "HP:0001324", + "UPHENO:0002442", + "PATO:0000001", + "UPHENO:0081423", + "UPHENO:0002642", + "UPHENO:0051801", + "CHEBI:60911", + "HP:0000001", + "GO:0070293", + "UBERON:0004111", + "UPHENO:0068511", + "BFO:0000002", + "CHEBI:60004", + "CHEBI:33302", + "UBERON:8450002", + "UPHENO:0082542", + "HP:0000119", + "UPHENO:0002964", "UBERON:0001088", - "UPHENO:0068292", - "CHEBI:33559", - "CHEBI:24870", - "CHEBI:33259", - "UPHENO:0034217", - "HP:0031980", - "UPHENO:0068110", - "HP:0100529", - "CHEBI:33238", - "CHEBI:24867", - "CHEBI:37577", - "UPHENO:0004459", - "GO:0040007", - "UPHENO:0050080", - "UPHENO:0051960", - "CHEBI:26079", - "HP:0002148", - "UPHENO:0034351", - "CHEBI:33608", - "UBERON:0010000", - "GO:0048878", - "UPHENO:0046348", - "UBERON:0000179", - "PR:000000001", - "UBERON:0002390", - "CHEBI:33241", - "UPHENO:0046286", - "UBERON:0001630", - "HP:0032180", + "BFO:0000004", "UPHENO:0080352", + "UBERON:0000179", + "UPHENO:0046284", + "HP:0012072", + "HP:0032943", + "CHEBI:36963", "UPHENO:0051186", - "CHEBI:28358", - "CHEBI:24431", - "UPHENO:0082543", + "UPHENO:0080555", + "UPHENO:0024906", + "HP:0001939", + "UPHENO:0001002", + "CHEBI:60242", + "BFO:0000003", + "CHEBI:59999", + "PR:000050567", + "UPHENO:0082835", + "CHEBI:64709", "UPHENO:0079536", - "UPHENO:0068064", - "UPHENO:0079822", - "UPHENO:0082539", - "UBERON:0000479", - "UBERON:0004120", - "HP:0012337", + "UBERON:0003914", "HP:0001942", - "UBERON:0000468", - "UPHENO:0081550", - "HP:0004360", - "UPHENO:0002536", + "UBERON:0011216", "UBERON:0001434", - "UPHENO:0051763", - "UPHENO:0068169", - "UBERON:0000178", - "UPHENO:0082538", + "UBERON:0005090", + "UBERON:0000468", + "UPHENO:0034253", + "HP:0000093", "GO:0055062", - "CHEBI:36357", - "UBERON:0000025", - "HP:0001871", - "HP:0010930", - "CHEBI:33285", - "HP:0000924", - "CHEBI:35352", - "UPHENO:0069254", - "CHEBI:36080", - "CHEBI:33839", - "UBERON:0011216", - "HP:0034684", - "CHEBI:33675", - "UPHENO:0068058", - "HP:0004379", - "UPHENO:0068091", - "UPHENO:0081546", - "UBERON:0004211", - "UPHENO:0046362", - "CHEBI:50047", - "CHEBI:78616", - "UPHENO:0034438", - "CHEBI:50860", - "CHEBI:26082", - "BFO:0000002", - "GO:0001503", + "UBERON:0002417", + "CHEBI:22314", "GO:0008152", - "HP:0003155", - "UPHENO:0076289", - "UPHENO:0048707", - "CHEBI:36360", - "CHEBI:33582", - "UPHENO:0051280", - "HP:0000001", - "UPHENO:0075902", - "PR:000003968", - "UPHENO:0068971", - "UPHENO:0034391", - "CHEBI:51143", - "HP:0001992", - "CHEBI:33694", - "UBERON:0002204", - "CHEBI:33695", - "UBERON:0005177", - "CHEBI:33579", - "UPHENO:0051668", - "HP:0003076", + "UPHENO:0086128", + "UPHENO:0049587", + "UPHENO:0051635", "UBERON:0000383", + "UPHENO:0001005", + "CHEBI:15693", + "UPHENO:0081544", + "HP:0020129", + "UPHENO:0046348", + "UPHENO:0066927", + "HP:0000083", + "HP:0011804", + "GO:0032501", + "GO:0050801", + "UBERON:0001015", + "CHEBI:37247", + "UPHENO:0051640", + "UPHENO:0081546", + "CHEBI:51143", + "HP:0004360", + "UPHENO:0034391", + "HP:0000118", + "UPHENO:0068094", + "UBERON:0000178", + "UPHENO:0002536", + "UPHENO:0076692", + "HP:0011849", + "UPHENO:0048707", + "UBERON:0001231", + "UPHENO:0068110", + "UBERON:0003103", "UPHENO:0002320", - "HP:0001324", - "UBERON:0004765", - "PR:000018263", - "UPHENO:0002816", + "UPHENO:0084653", + "UPHENO:0001001", + "UBERON:0000062", + "UPHENO:0084654", + "UPHENO:0034351", + "UPHENO:0068292", + "UBERON:0001474", + "UPHENO:0082875", + "UBERON:0002100", + "CHEBI:28358", + "UPHENO:0076703", + "UPHENO:0015280", + "UPHENO:0081548", + "UBERON:0002204", + "UPHENO:0082539", + "CHEBI:33582", + "UBERON:0000465", + "UPHENO:0082538", + "UBERON:0000489", + "BFO:0000001", + "CHEBI:24833", + "UBERON:0001008", + "UPHENO:0082834", + "BFO:0000040", + "HP:0004349", + "GO:0042592", "HP:0004348", - "UPHENO:0075666", - "HP:0003110", - "HP:0003330", - "UPHENO:0046284", - "HP:0011036", - "HP:0011804", - "UPHENO:0068089", - "UBERON:0015212", + "HP:0002749", + "CHEBI:23906", "HP:0003011", - "UPHENO:0081547", - "PR:000050567", - "UBERON:0009569", - "UBERON:0011676", - "UBERON:0001015", - "UBERON:0000463", - "CHEBI:33296", - "UBERON:0004111", - "GO:0042592", - "HP:0000079", - "UPHENO:0051937", + "HP:0012337", + "UBERON:0006314", + "CHEBI:36080", + "CHEBI:50047", + "UPHENO:0068089", + "BFO:0000015", + "UBERON:0000174", + "HP:0000924", + "HP:0003330", + "UPHENO:0078554", + "UPHENO:0002332", + "CHEBI:33259", + "HP:0011277", + "UPHENO:0046283", + "UBERON:0001630", + "HP:0033127", + "CHEBI:33285", + "UPHENO:0001003", + "HP:0003155", "UPHENO:0080556", "HP:0002900", - "UBERON:0001231", - "UBERON:8450002", - "UPHENO:0049587", - "UBERON:0001008", - "HP:0000083", - "UPHENO:0068495", - "HP:0000077", - "HP:0000124", - "CHEBI:22314", - "UPHENO:0082835", - "UBERON:0003103", - "CHEBI:24835", - "UPHENO:0002411", - "HP:0012211", "UBERON:0000467", - "HP:0011277", - "CHEBI:60004", - "UPHENO:0049628", - "CHEBI:23367", - "UBERON:0003914", - "UBERON:0000483", - "GO:0003014", - "GO:0003008", - "HP:0010935", - "UBERON:0004819", - "UPHENO:0082834", - "UPHENO:0002803", - "HP:0001941", - "UBERON:0005090", + "UBERON:0004765", + "UPHENO:0081550", + "UPHENO:0080659", + "UPHENO:0051668", + "CHEBI:33579", + "HP:0003110", + "CHEBI:36359", "GO:0008150", - "UBERON:0007684", + "UPHENO:0051763", + "HP:0011842", + "UPHENO:0075696", + "HP:0001871", + "UBERON:0001062", + "CHEBI:72695", + "UPHENO:0068064", + "CHEBI:26079", + "CHEBI:33839", + "UPHENO:0082943", + "UPHENO:0075666", + "UPHENO:0002411", + "UBERON:0004120", + "HP:0002148", + "CHEBI:33304", + "HP:0010930", + "UBERON:0013702", + "UPHENO:0050080", + "GO:0098771", + "UPHENO:0004459", + "UPHENO:0080351", + "UPHENO:0076286", + "CHEBI:33250", + "UBERON:0002113", + "HP:0032180", + "CHEBI:25367", + "HP:0011042", + "CHEBI:26082", + "UPHENO:0049904", "UPHENO:0066739", - "BFO:0000020", - "UPHENO:0081777", - "UBERON:0004122", - "UBERON:0000916", - "UBERON:0009773", + "UPHENO:0075902", + "GO:0048878", + "UPHENO:0051937", + "UBERON:0002193", + "UPHENO:0051960", + "CHEBI:24870", "UBERON:0000064", - "UPHENO:0068144", - "CHEBI:16646", + "CHEBI:33241", + "HP:0001507", + "CHEBI:37577", + "HP:0012591", + "HP:0001510", + "HP:0003109", + "HP:0034684", + "CHEBI:24867", + "CHEBI:33256", + "UBERON:0000025", + "UPHENO:0051739", "UPHENO:0079824", - "CHEBI:33302", - "UBERON:0013702", - "CHEBI:33318", - "UBERON:0006314", - "UPHENO:0066943", - "CHEBI:37247", - "UPHENO:0080555", - "UPHENO:0049904", - "CHEBI:26217", - "UBERON:0000489", + "UPHENO:0051900", + "UPHENO:0049628", + "CHEBI:33238", + "UPHENO:0052008", + "HP:0040156", + "UBERON:0000463", "CHEBI:26020", - "UPHENO:0049709", - "UPHENO:0051847", - "BFO:0000040", - "UPHENO:0001003", + "UPHENO:0034217", + "UBERON:0011676", "UBERON:0001285", - "HP:0034359", - "UPHENO:0024906", - "UBERON:0000465", - "UPHENO:0082943", - "UPHENO:0051191", - "UPHENO:0002642", - "CHEBI:36963", - "UPHENO:0051804", - "GO:0070293", - "HP:0011038", - "UBERON:0000062", - "BFO:0000003", - "HP:0001939", - "UPHENO:0001005", - "UPHENO:0081424", - "HP:0003648", - "UPHENO:0002332", - "UPHENO:0066927", - "HP:0001507", - "GO:0098771", - "HP:0012072", - "CHEBI:36359", - "HP:0003111", - "CHEBI:23906", - "HP:0012379", - "UPHENO:0001002", - "UPHENO:0075696", - "UPHENO:0077821", - "UPHENO:0002964", - "UPHENO:0052008", - "UBERON:0006555", - "CHEBI:32988", - "UBERON:0005173", - "HP:0002749", - "HP:0004349", - "UPHENO:0084653", - "BFO:0000001", - "UPHENO:0068247", - "GO:0050801", - "GO:0032501", - "HP:0012591", - "UBERON:0002100", - "UBERON:0001062", - "HP:0032943", - "HP:0033127", - "HP:0011849", - "UPHENO:0002442", - "CHEBI:59999", - "UBERON:0002193", - "HP:0011842", "UBERON:0013701", - "UPHENO:0075159", - "UPHENO:0076692", - "UPHENO:0068094", - "HP:0000118", - "UPHENO:0082875", + "UBERON:0009569", + "UPHENO:0082543", + "UBERON:0000483", + "CHEBI:24431", + "HP:0003111", + "CHEBI:33318", + "PR:000003968", + "UBERON:0000479", "UPHENO:0051686", - "UBERON:0000061", - "UBERON:0005172", - "CHEBI:36587", - "UPHENO:0084654", - "BFO:0000004", - "UPHENO:0080658", - "HP:0000119", + "CHEBI:36915", "UBERON:0000475", - "UPHENO:0046283", - "UPHENO:0001001", + "HP:0012211", + "UBERON:0015212", + "CHEBI:78616", + "HP:0000077", + "HP:0001992", + "UBERON:0010000", "UPHENO:0051709", - "BFO:0000015", - "PR:000064867", - "UPHENO:0034253", - "PATO:0000001", + "UBERON:0002390", + "UPHENO:0066943", + "UPHENO:0049709", + "HP:0004322", + "CHEBI:26216", + "UBERON:0004211", + "UBERON:0007684", + "UBERON:0004122", + "HP:0010935", + "UBERON:0005172", + "HP:0003126", + "HP:0002748", "UPHENO:0002832", - "UBERON:0002417", - "UPHENO:0076703", + "UPHENO:0002803", + "CHEBI:16646", + "HP:0000124", + "UBERON:0000916", + "UBERON:0005173", + "UPHENO:0051847", + "UBERON:0005177", + "UPHENO:0002816", "UBERON:0011143", - "UBERON:0002113", - "UBERON:0001474", + "UBERON:0004819", + "HP:0012599", + "CHEBI:33296", + "PR:000000001", + "UPHENO:0034199", + "UPHENO:0051898", + "UPHENO:0081547", + "CHEBI:25414", + "UPHENO:0068058", + "CHEBI:33674", + "UPHENO:0051930", + "CHEBI:33559", + "CHEBI:25213", + "CHEBI:26217", + "UPHENO:0051645", + "HP:0010929", + "UPHENO:0051958", + "UPHENO:0052116", + "CHEBI:24835", + "CHEBI:36586", + "CHEBI:33521", + "CHEBI:36914", + "UPHENO:0034438", + "UBERON:0006555", + "GO:0055080", + "UBERON:0000061", + "CHEBI:36916", + "UPHENO:0079822", + "HP:0003648", + "HP:0001941", + "UPHENO:0051804", + "CHEBI:29103", ], "has_phenotype_closure_label": [ - "peptide", - "Abnormal urine protein level", - "increased level of protein polypeptide chain in independent continuant", - "primary amide", - "amide", + "Renal insufficiency", + "non-functional kidney", + "non-functional anatomical entity", + "carboxamide", + "increased level of protein polypeptide chain in urine", "abnormal independent continuant protein polypeptide chain level", - "abnormal growth", + "Low-molecular-weight proteinuria", + "amide", + "increased level of protein polypeptide chain in independent continuant", + "Abnormal urine protein level", + "peptide", + "growth", + "Growth delay", "Abnormality of body height", - "delayed biological_process", + "decreased size of the anatomical entity in the independent continuant", + "Growth abnormality", "delayed growth", - "Abnormal urine carboxylic acid level", - "abnormal independent continuant carboxylic acid level", - "increased level of organic acid in urine", - "Aminoaciduria", - "increased level of nitrogen molecular entity in independent continuant", - "organic molecule", + "abnormal anatomical entity morphology in the independent continuant", + "decreased height of the multicellular organism", + "increased level of carboxylic acid in independent continuant", "carboxylic acid", "molecule", - "oxoacid", - "decreased height of the anatomical entity", - "organic oxo compound", - "abnormal independent continuant nitrogen molecular entity level", - "carbon oxoacid", "increased level of amino acid in urine", - "polypeptide", - "aldose", - "decreased size of the anatomical entity in the independent continuant", + "hydroxides", + "organic molecule", + "carbonyl compound", + "abnormal size of anatomical entity", + "abnormal amino acid level", + "Organic aciduria", + "abnormal urine amino acid level", + "increased level of organic acid in urine", + "increased level of nitrogen molecular entity in independent continuant", "amino acid", - "abnormal independent continuant carbohydrate level", - "increased level of monosaccharide in independent continuant", - "glucose", - "Glycosuria", - "abnormal independent continuant glucose level", + "Elevated urinary carboxylic acid", "increased level of organic acid in independent continuant", - "increased level of glucose in urine", - "oxygen molecular entity", - "increased level of monosaccharide in urine", "increased level of glucose in independent continuant", - "Abnormal urinary organic compound level", - "abnormal urine glucose level", - "abnormal independent continuant potassium atom level", - "decreased size of the multicellular organism", - "alkali metal molecular entity", - "Short stature", - "abnormal metabolite independent continuant level", - "abnormal independent continuant potassium(1+) level", "Abnormal urine metabolite level", - "atom", - "abnormal blood potassium atom level", - "potassium molecular entity", - "monoatomic cation homeostasis", + "carbohydrates and carbohydrate derivatives", + "increased level of monosaccharide in urine", + "oxygen molecular entity", "organooxygen compound", - "decreased level of potassium atom in blood", - "potassium atom", - "inorganic cation", - "decreased level of potassium atom in independent continuant", + "Abnormal urinary organic compound level", + "abnormal independent continuant glucose level", + "aldohexose", "increased level of organic molecular entity in independent continuant", - "abnormal potassium atom level", - "hydrogen molecular entity", - "Abnormal blood cation concentration", - "abnormal role blood level", - "inorganic ion", - "Rickets", - "monovalent inorganic cation", - "metal cation", - "monoatomic monocation", - "s-block element atom", + "glucose", + "aldose", + "hexose", + "abnormal urine glucose level", + "increased level of monosaccharide in independent continuant", + "abnormal independent continuant carbohydrate level", + "monosaccharide", + "abnormal renal system process", + "renal absorption", + "abnormal renal absorption", + "abnormal independent continuant amino acid level", + "renal system process", + "organic molecular entity", + "protein-containing molecular entity", + "Decreased anatomical entity mass density", + "decreased level of chemical entity in independent continuant", + "Abnormal blood ion concentration", + "increased level of alkaline phosphatase, tissue-nonspecific isozyme", "main group element atom", - "Elevated urinary carboxylic acid", - "Abnormal blood potassium concentration", - "metal atom", - "decreased height of the multicellular organism", - "inorganic molecular entity", - "Low-molecular-weight proteinuria", - "potassium(1+)", - "Abnormal blood monovalent inorganic cation concentration", - "decreased role independent continuant level", - "abnormal monoatomic cation homeostasis", - "Lacticaciduria", - "aldohexose", - "cation", + "pnictogen molecular entity", + "abnormality of muscle organ physiology", + "increased level of protein", + "increased level of glucose in urine", + "body proper", + "decreased muscle organ strength", + "polypeptide", + "Abnormality of bone mineral density", + "anatomical structure", + "anatomical conduit", + "abdominal segment of trunk", + "musculature of body", + "monoatomic cation", + "Abnormality of the upper urinary tract", "chemical substance", - "racemate", - "Aciduria", - "mixture", + "abnormal independent continuant potassium atom level", + "increased independent continuant base level", + "muscle organ", + "anatomical entity dysfunction in independent continuant", + "rac-lactic acid", "increased level of rac-lactic acid in urine", - "increased level of rac-lactic acid in independent continuant", - "Abnormality of urine homeostasis", - "Renal insufficiency", - "abnormal blood potassium(1+) level", "increased level of chemical entity in urine", - "excreta", - "Abnormal urine phosphate concentration", - "abnormal urine chemical entity level", - "Abnormal urinary electrolyte concentration", - "carboxamide", - "increased level of phosphate in independent continuant", - "increased level of phosphate in urine", - "haemolymphatic fluid", - "hematopoietic system", - "blood", - "Hypophosphatemia", - "carbohydrate", - "abnormal role urine level", - "homeostatic process", - "protein polypeptide chain", - "Abnormal blood ion concentration", - "increased independent continuant acid level", - "abnormal blood phosphate level", - "abnormal blood chemical entity level", - "alkali metal atom", - "abnormal homeostatic process", - "Proteinuria", - "phosphorus molecular entity", - "decreased role blood level", - "phosphate ion homeostasis", - "alkali metal cation", - "decreased level of phosphate in blood", - "decreased level of chemical entity in blood", - "increased level of protein polypeptide chain in urine", - "abnormality of multicellular organism height", - "anatomical system", - "abnormal independent continuant chemical entity level", - "abnormal blood monoatomic ion level", - "increased level of carboxylic acid in independent continuant", - "mesoderm-derived structure", "increased level of chemical entity in bodily fluid", - "phosphorus oxoacids and derivatives", + "decreased anatomical entity strength", + "mixture", + "epithelial tube", + "organic oxo compound", + "excreta", + "abnormal acid bodily fluid level", + "monoatomic monocation", + "Abnormality of the urinary system", + "Aciduria", + "abnormal blood potassium atom level", + "abnormality of anatomical entity height", + "metal atom", + "increased level of rac-lactic acid in independent continuant", + "skeletal element", + "cavitated compound organ", + "delayed biological_process", + "oxoacid", + "Osteomalacia", + "chemical entity", + "increased independent continuant acid level", + "Abnormality of alkaline phosphatase level", "increased independent continuant role level", - "monoatomic entity", + "increased bodily fluid acid level", + "abnormal blood monoatomic ion level", + "decreased level of potassium atom in blood", + "Metabolic acidosis", + "homeostatic process", + "protein", + "phenotype by ontology source", + "decreased level of chemical entity in blood", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "abnormal independent continuant nitrogen molecular entity level", + "Lacticaciduria", + "alkali metal molecular entity", + "entity", + "Phenotypic abnormality", + "Hyperphosphaturia", + "abnormal anatomical entity mass density", + "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", "epithelium", - "phosphorus oxoacid derivative", - "ion", - "abdomen", - "abnormal phosphate ion homeostasis", - "anatomical structure", - "Abnormality of the urinary system", - "Abnormality of blood and blood-forming tissues", - "phosphoric acid derivative", - "material entity", - "inorganic ion homeostasis", - "monosaccharide", - "Abnormal blood phosphate concentration", - "bodily fluid", - "abnormal multicellular organism chemical entity level", - "abnormal chemical homeostasis", - "abnormal acid independent continuant level", + "abnormality of anatomical entity physiology", + "abnormally decreased functionality of the nephron tubule", + "Abnormal urine pH", + "increased level of chemical entity in independent continuant", + "Abnormal bone structure", + "anatomical system", + "potassium(1+)", + "All", + "abnormal growth", + "independent continuant", + "abnormal anatomical entity", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "abnormal urine chemical entity level", + "monoatomic ion homeostasis", + "decreased height of the anatomical entity", + "abnormal metabolite independent continuant level", + "abnormal size of multicellular organism", + "bone element", + "Abnormal renal tubular resorption", + "anatomical entity", + "multicellular anatomical structure", + "heteroorganic entity", + "abnormal bone element mass density", + "decreased role independent continuant level", + "Muscle weakness", + "organ part", + "abnormal musculature", + "abnormal skeletal system", + "increased level of phosphate in independent continuant", + "abnormal potassium atom level", + "abnormal renal system", + "process", "Abnormality of acid-base homeostasis", - "abnormal role independent continuant level", - "information biomacromolecule", + "tube", + "potassium molecular entity", + "genitourinary system", + "atom", + "carbohydrate", "increased bodily fluid role level", - "Abnormality of metabolism/homeostasis", + "biological_process", + "renal tubule", "carbon group molecular entity", - "increased level of amino acid in independent continuant", + "Abnormality of renal excretion", + "abnormal independent continuant chemical entity level", + "protein polypeptide chain", + "continuant", + "nephron", + "amino acid chain", + "tissue", + "Abnormal circulating enzyme concentration or activity", + "organism subdivision", + "urine", + "material entity", + "organic amino compound", + "Acidosis", "increased level of chemical entity", - "increased level of protein", - "protein-containing molecular entity", - "molecular entity", - "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", - "abnormal anatomical entity morphology in the independent continuant", - "organochalcogen compound", + "inorganic cation", + "Glycosuria", + "information biomacromolecule", + "abdominal segment element", + "Abnormal bone ossification", + "decreased size of the anatomical entity", + "blood", + "racemate", + "phosphate ion homeostasis", + "inorganic ion", + "abnormal genitourinary system", + "Aminoaciduria", + "organ system subdivision", + "primary amide", + "elemental molecular entity", "nitrogen molecular entity", - "material anatomical entity", - "Abnormal enzyme concentration or activity", - "Growth abnormality", - "increased level of alkaline phosphatase, tissue-nonspecific isozyme", + "renal system", + "hydrogen molecular entity", + "nephron tubule", + "phenotype", + "Abnormality of the genitourinary system", + "Reduced bone mineral density", + "inorganic ion homeostasis", + "Impaired renal tubular reabsorption of phosphate", + "multicellular organism", + "hematopoietic system", + "abnormal monoatomic cation homeostasis", "alkaline phosphatase, tissue-nonspecific isozyme", - "decreased level of phosphate in independent continuant", - "biomacromolecule", - "protein", - "heteroorganic entity", - "organonitrogen compound", + "nephron epithelium", "polyatomic entity", - "increased level of carboxylic acid in urine", - "urine", - "organism substance", - "monoatomic ion homeostasis", - "Elevated circulating alkaline phosphatase concentration", - "decreased anatomical entity strength", - "Muscle weakness", - "abnormal monoatomic ion homeostasis", - "muscle structure", - "Hypokalemia", - "hemolymphoid system", + "increased level of amino acid in independent continuant", "Abnormality of the musculature", - "abnormality of kidney physiology", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "abnormal role urine level", + "abnormal chemical entity level", + "organochalcogen compound", "Abnormal muscle physiology", - "musculature", - "abnormal amino acid level", - "carbonyl compound", - "multicellular anatomical structure", - "trunk", - "Acidosis", - "nephron tubule", - "renal tubule", - "Abnormality of the skeletal system", - "uriniferous tubule", - "abnormal independent continuant monoatomic ion level", - "abnormal acid bodily fluid level", - "nephron epithelium", - "anatomical conduit", - "organic molecular entity", - "nephron", - "epithelial tube", - "Abnormal renal physiology", - "Abnormality of the kidney", - "chalcogen molecular entity", - "cavitated compound organ", - "skeletal system", - "system process", - "increased level of chemical entity in independent continuant", - "abnormal phenotype by ontology source", - "organic acid", - "heteroatomic molecular entity", - "Abnormality of alkaline phosphatase level", - "organ part", - "abnormal kidney", - "oxoacid derivative", - "Abnormal circulating enzyme concentration or activity", - "Abnormality of bone mineral density", - "abdominal segment of trunk", - "elemental molecular entity", - "subdivision of trunk", - "elemental potassium", - "main body axis", - "abdomen element", - "Decreased anatomical entity mass density", - "abnormal musculature", - "rac-lactic acid", - "subdivision of organism along main body axis", - "s-block molecular entity", - "genitourinary system", - "abnormal independent continuant phosphate level", - "protein-containing material entity", - "macromolecule", - "abnormality of anatomical entity physiology", - "kidney epithelium", - "abnormally decreased functionality of the anatomical entity", - "Organic aciduria", - "amino acid chain", - "monoatomic cation", - "renal absorption", - "increased independent continuant base level", "Abnormal homeostasis", + "Abnormal enzyme concentration or activity", + "p-block molecular entity", + "biomacromolecule", + "Abnormality of urine homeostasis", "upper urinary tract", - "excretory tube", - "main group molecular entity", - "abnormal genitourinary system", - "Phenotypic abnormality", + "occurrent", + "organ", + "skeletal system", + "Abnormality of the urinary system physiology", + "abnormal blood chemical entity level", + "macromolecule", + "material anatomical entity", + "muscle structure", "metabolic process", - "Renal tubular dysfunction", - "growth", - "hydroxides", - "Abnormality of the upper urinary tract", - "carbohydrates and carbohydrate derivatives", - "muscle organ", - "abnormal anatomical entity mass density", - "All", - "kidney", - "increased bodily fluid acid level", - "abnormality of renal system physiology", - "Hyperphosphaturia", - "compound organ", - "lateral structure", - "Abnormality of renal excretion", - "non-functional anatomical entity", - "abnormality of muscle organ physiology", - "abnormal independent continuant amino acid level", - "phenotype", - "abnormal renal system", - "renal system process", - "chemical entity", + "bodily fluid", + "abnormal urine phosphate level", + "Abnormality of metabolism/homeostasis", + "abnormal monoatomic ion homeostasis", + "abnormal role blood level", + "organism substance", + "abnormality of kidney physiology", + "Elevated circulating alkaline phosphatase concentration", + "main group molecular entity", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "chemical homeostasis", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "decreased level of potassium atom in independent continuant", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "Abnormality of the skeletal system", + "abnormal independent continuant phosphate level", + "abnormal chemical homeostasis", + "abnormal protein level", "Abnormality of the musculoskeletal system", - "abnormal size of anatomical entity", - "Impaired renal tubular reabsorption of phosphate", - "tissue", - "phosphate", - "hexose", - "Abnormal bone structure", - "abdominal segment element", - "pnictogen molecular entity", + "abnormal phosphate ion homeostasis", + "abdomen element", + "haemolymphatic fluid", + "ion", + "abnormal homeostatic process", "multicellular organismal process", - "skeletal element", - "entity", - "Osteomalacia", - "decreased muscle organ strength", - "abnormal renal absorption", - "Growth delay", - "musculature of body", - "occurrent", - "abnormal skeletal system morphology", + "abnormal blood phosphate level", + "Hypophosphatemia", + "monoatomic ion", "abnormal role bodily fluid level", - "Abnormality of the genitourinary system", - "quality", - "process", - "body proper", - "abnormal urine amino acid level", - "Abnormal urine pH", - "bone element", - "continuant", - "Decreased bone element mass density", - "abnormal anatomical entity morphology", "abnormal biological_process", + "potassium atom", + "Proteinuria", + "abnormal skeletal system morphology", + "protein-containing material entity", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "abnormality of renal system physiology", + "quality", + "phosphoric acid derivative", + "trunk", + "phosphorus molecular entity", + "heteroatomic molecular entity", + "abnormal acid independent continuant level", + "monoatomic entity", + "abnormal phenotype by ontology source", + "subdivision of trunk", + "organic acid", "ossification", - "abnormal upper urinary tract", - "specifically dependent continuant", - "abnormal bone element mass density", - "independent continuant", - "multicellular organism", - "Abnormal bone ossification", - "monoatomic ion", - "decreased level of chemical entity in independent continuant", - "anatomical entity", - "Abnormal skeletal morphology", - "Abnormality of the urinary system physiology", - "abnormal renal system process", - "decreased level of chemical entity", - "trunk region element", - "decreased size of the anatomical entity", - "musculoskeletal system", - "Metabolic acidosis", - "non-functional kidney", - "abnormally decreased functionality of the nephron tubule", - "biological_process", - "organic amino compound", - "abnormal chemical entity level", - "Reduced bone mineral density", "Abnormal circulating metabolite concentration", - "abnormality of anatomical entity height", + "main body axis", "excretory system", - "abnormal size of multicellular organism", - "renal system", - "abnormal skeletal system", - "phenotype by ontology source", - "abnormal protein level", - "Abnormal renal tubular resorption", - "chemical homeostasis", - "abnormal anatomical entity", - "abnormal urine phosphate level", - "abnormal hematopoietic system", - "p-block molecular entity", - "anatomical entity dysfunction in independent continuant", - "organism subdivision", - "organ", - "organ system subdivision", + "abnormal independent continuant monoatomic ion level", + "musculoskeletal system", + "abnormal upper urinary tract", + "uriniferous tubule", + "subdivision of organism along main body axis", + "phosphorus oxoacids and derivatives", + "Abnormal blood phosphate concentration", + "kidney epithelium", + "compound organ", + "abdomen", + "Renal tubular dysfunction", + "abnormal kidney", + "trunk region element", + "Abnormality of the kidney", + "lateral structure", + "chalcogen molecular entity", + "Abnormal renal physiology", + "Short stature", + "inorganic molecular entity", + "abnormally decreased functionality of the anatomical entity", + "excretory tube", + "kidney", + "oxoacid derivative", + "increased level of phosphate in urine", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "musculature", + "decreased role blood level", + "abnormal role independent continuant level", + "metal cation", + "monovalent inorganic cation", + "s-block molecular entity", + "s-block element atom", + "Abnormal blood cation concentration", + "organonitrogen compound", + "abnormal independent continuant potassium(1+) level", + "abnormal blood potassium(1+) level", + "carbon oxoacid", + "Abnormal blood potassium concentration", + "abnormal multicellular organism chemical entity level", + "phosphate", + "alkali metal cation", + "elemental potassium", + "Hypokalemia", + "Abnormal blood monovalent inorganic cation concentration", + "monoatomic cation homeostasis", + "cation", + "alkali metal atom", + "hemolymphoid system", + "Rickets", + "abnormality of multicellular organism height", + "Abnormal urine carboxylic acid level", + "decreased level of chemical entity", "abnormal phosphate level", - "tube", + "system process", ], }, { @@ -12107,681 +12107,681 @@ def autocomplete_response(): ], "has_phenotype_count": 8, "has_phenotype_closure": [ - "HP:0001507", "GO:0040007", - "UPHENO:0000541", - "HP:0004322", + "UPHENO:0081424", + "UPHENO:0000543", + "UPHENO:0049874", + "HP:0001507", + "UPHENO:0012541", + "HP:0000002", "HP:0001510", - "UPHENO:0081423", - "UPHENO:0080352", - "UPHENO:0088162", - "UPHENO:0088170", + "HP:0001877", + "CL:0000329", "HP:0012130", + "UPHENO:0088162", "CL:0000764", - "CL:0000232", - "GO:0010468", - "GO:0006325", - "GO:0043170", - "GO:0046483", - "GO:0034641", - "GO:0016043", - "HP:0040012", - "UPHENO:0049990", - "UPHENO:0049873", - "GO:0031049", - "GO:0009987", - "UPHENO:0050021", - "UPHENO:0049700", - "GO:0010558", - "HP:0003221", - "GO:0044237", - "GO:0071840", - "UPHENO:0050845", - "HP:0011017", - "UPHENO:0078606", - "UPHENO:0050121", - "GO:0010556", - "GO:0031326", - "CL:0000329", - "GO:0010605", - "GO:0006259", + "GO:0009890", + "GO:0031324", "GO:0071824", - "GO:0060255", - "GO:0009892", - "GO:0048523", - "GO:0050789", - "GO:0006807", - "GO:0044238", + "UPHENO:0050021", "GO:0010629", - "HP:0000002", + "GO:0031049", + "GO:0060255", "GO:0009889", - "GO:0005623", - "CHEBI:36357", - "UPHENO:0049748", - "UPHENO:0051936", - "UPHENO:0012541", - "UPHENO:0049874", - "UPHENO:0000543", - "HP:0004364", - "CHEBI:32988", - "UPHENO:0051668", - "GO:0048519", - "UPHENO:0077813", - "CHEBI:33675", - "UPHENO:0076289", - "HP:0003220", - "CHEBI:33256", - "CHEBI:50860", - "UPHENO:0076286", - "CHEBI:16670", - "UPHENO:0077826", - "UPHENO:0081547", - "HP:0430071", - "UBERON:0006314", - "CHEBI:36963", - "UPHENO:0051804", - "UPHENO:0051612", - "CHEBI:36962", - "CHEBI:25806", - "UPHENO:0068971", + "GO:0048523", + "GO:0043933", "UPHENO:0050116", - "CHEBI:51143", - "CHEBI:33582", - "HP:0045056", - "UPHENO:0046284", - "PR:000003809", - "CHEBI:33694", - "CHEBI:15841", + "HP:0003221", + "UPHENO:0049990", + "UPHENO:0050121", + "GO:0005623", + "UPHENO:0049748", + "GO:0010468", + "GO:0010558", + "GO:0031327", + "GO:0006325", + "GO:0050794", + "GO:0019222", + "GO:0048519", + "GO:0006139", + "GO:1901360", + "GO:0043170", + "GO:0046483", + "UPHENO:0050845", + "HP:0003220", + 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"UBERON:0004765", + "UPHENO:0085118", + "HP:0002715", + "GO:0090304", + "UPHENO:0015280", + "HP:0045056", "UPHENO:0004523", - "UBERON:0002193", + "UPHENO:0086176", + "GO:0065007", + "HP:0010974", + "UPHENO:0085070", + "CHEBI:36963", + "HP:0000118", + "UBERON:0000033", + "UBERON:0000178", "HP:0011842", - "PR:000050567", - "BFO:0000015", - "UPHENO:0002948", - "UPHENO:0080079", - "UBERON:0000075", - "PATO:0000001", - "UPHENO:0051801", + "UPHENO:0075696", + "HP:0001871", + "HP:0001875", + "UPHENO:0077426", + "GO:0034641", + "HP:0011893", + "PR:000064867", + "UPHENO:0085984", + "CHEBI:51143", + "CL:0000255", + "UPHENO:0085189", + "UPHENO:0051612", + "CL:0000738", + "CL:0000763", + "CL:0000458", + "UPHENO:0088170", + "GO:0044238", + "UPHENO:0001001", "UPHENO:0086589", - "CL:0000988", - "UPHENO:0015280", + "UPHENO:0076791", + "CHEBI:37622", + "HP:0004322", + "UBERON:0003129", + "UPHENO:0086016", + "CL:0000000", + "UPHENO:0088166", + "BFO:0000001", + "UBERON:0004120", + "CL:0000094", + 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"NCBITaxon:33154", + "GO:0006725", + "UBERON:0001893", + "UPHENO:0080200", + "UBERON:0001890", + "HP:0033127", + "UPHENO:0076702", + "HP:0001903", + "UBERON:0005944", + "UPHENO:0088176", + "UBERON:0034925", + "BFO:0000040", + "HP:0033405", + "CHEBI:33304", + "UBERON:0013702", "HP:0001873", - "UPHENO:0088321", - "UPHENO:0085371", - "GO:0006996", - "UPHENO:0085144", - "HP:0001874", - "UPHENO:0084987", + "UBERON:0007811", + "UPHENO:0075195", + "HP:0009121", + "NCBITaxon:6072", + "UPHENO:0002964", "UPHENO:0086172", - "CHEBI:33285", - "CL:0002242", - "UPHENO:0080351", - "CL:0000219", + "HP:0000707", + "UPHENO:0086173", + "UPHENO:0086049", + "HP:0011017", + "PR:000000001", + "UPHENO:0084987", + "UPHENO:0048707", + "CL:0000232", + "HP:0011873", + "CL:0000151", + "UPHENO:0085302", + "UBERON:0004288", + "UPHENO:0085144", + "HP:0020047", + "CL:0002092", + "CHEBI:33579", + "UPHENO:0051668", "UPHENO:0087355", - "HP:0032309", - "CL:0000255", - "UPHENO:0086019", - "UBERON:0001017", - "UPHENO:0085189", - "HP:0001903", - "UPHENO:0077426", - "HP:0032251", - "CHEBI:33695", - "UBERON:0002204", - "UBERON:0013701", - "HP:0010987", - "UPHENO:0086045", - "BFO:0000001", - "HP:0001881", - "HP:0000118", - "GO:0009890", - "UPHENO:0063722", - "GO:0006725", - "PR:000018263", - "UBERON:0004765", - "UPHENO:0075159", - "UPHENO:0076692", - "BFO:0000020", - "UPHENO:0051680", - "HP:0002715", - "HP:0010974", - "UPHENO:0001002", - "CL:0000775", - "UPHENO:0087123", - "GO:0043933", - "CL:0000738", + "UPHENO:0049873", + "UBERON:0000153", + "HP:0005561", + "UPHENO:0087339", "UPHENO:0035025", - "UPHENO:0048707", - "HP:0025354", - "UPHENO:0006910", - "UPHENO:0088338", - "UPHENO:0088166", + "UBERON:0000479", + "HP:0005528", + "UBERON:0002371", + "GO:0006259", + "UBERON:0001474", + "UPHENO:0085195", + "UBERON:0001016", + "CHEBI:36357", "UPHENO:0077821", - "UPHENO:0002964", - "UPHENO:0085405", - "UPHENO:0088176", - "HP:0000234", - "UBERON:0001062", - "UPHENO:0086016", - "GO:0008150", - "UPHENO:0076791", - "HP:0000001", - "UBERON:0002405", - "UBERON:0000033", - "UPHENO:0020584", - "UPHENO:0049587", - "UPHENO:0086005", - "HP:0000707", - "HP:0001911", - "PR:000064867", - "CL:0000766", - "UBERON:0011216", - "UPHENO:0002844", - "HP:0100547", - "CL:0000094", - "UPHENO:0085984", - "HP:0001871", - "UBERON:0000061", - "CHEBI:33839", - "UPHENO:0084928", - "GO:1901360", - "UBERON:0015203", + "UBERON:0000463", + "NCBITaxon:1", + "UPHENO:0046378", + "CHEBI:33302", + "UBERON:0000465", + "CHEBI:33582", + "CHEBI:16670", + "HP:0004364", + "HP:0010876", "UPHENO:0085330", - "HP:0002977", - "HP:0040195", - "UPHENO:0085344", - "UBERON:0010000", - "UPHENO:0088335", - "UBERON:0000475", - "UBERON:0000153", - "GO:0006139", - "UPHENO:0050113", - "UPHENO:0001001", - "UBERON:0000467", - "BFO:0000004", - "UBERON:0000073", "GO:0008152", - "BFO:0000002", - "GO:0031052", - "CHEBI:37622", - "HP:0000929", - "UPHENO:0085068", - "UBERON:0034923", + "UBERON:0002616", "UPHENO:0048751", - "UPHENO:0076675", + "UPHENO:0046284", + "CHEBI:50860", + "CHEBI:16541", + "UPHENO:0068971", + "CHEBI:33695", + "UBERON:0001017", + "UPHENO:0081547", + "CHEBI:25806", "CL:0000081", - "UPHENO:0087518", - "UPHENO:0085076", - "UPHENO:0087089", - "UBERON:0004288", - "PR:000000001", - "UBERON:0000179", - "UBERON:0002390", - "UPHENO:0082943", - "UBERON:0000465", - "HP:0020047", - "UPHENO:0001003", + "CHEBI:35352", + "UPHENO:0085068", + "CHEBI:32988", + "GO:0009987", + "CHEBI:33285", + "UPHENO:0051763", + "UPHENO:0020888", + "UPHENO:0077813", + "GO:0008150", + "CHEBI:33675", + "UPHENO:0076289", + "UPHENO:0077826", + "PR:000003809", + "BFO:0000015", + "CHEBI:33694", + "CHEBI:33839", + "UBERON:0006314", + "CHEBI:36080", + "CHEBI:50047", + "UPHENO:0051801", ], "has_phenotype_closure_label": [ - "growth", + "delayed biological_process", + "Short stature", + "decreased height of the anatomical entity", + "Growth delay", "decreased size of the multicellular organism", - "decreased size of the anatomical entity in the independent continuant", + "Abnormality of body height", "abnormality of anatomical entity height", - "Growth delay", + "delayed growth", "decreased height of the multicellular organism", - "delayed biological_process", - "erythrocyte", - "Abnormal erythroid lineage cell morphology", - "oxygen accumulating cell", - "Anemia", + "abnormality of multicellular organism height", + "abnormal erythroid lineage cell morphology", "Abnormal erythrocyte morphology", "abnormal erythrocyte morphology", - "abnormal metabolic process", - "abnormal chromatin organization", - "cellular process", - "Chromosomal breakage induced by crosslinking agents", - "Abnormality of chromosome stability", + "abnormal primary metabolic process", + "negative regulation of biosynthetic process", + "protein-DNA complex organization", + "regulation of cellular biosynthetic process", + "biological regulation", + "abnormal organelle organization", + "programmed DNA elimination", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "nucleic acid metabolic process", + "protein-containing complex organization", + "regulation of biological process", + "primary metabolic process", "obsolete nitrogen compound metabolic process", - "organic substance metabolic process", - "decreased height of the anatomical entity", - "abnormal programmed DNA elimination by chromosome breakage", + "cellular component organization or biogenesis", + "abnormal cellular component organization", "abnormal cellular metabolic process", + "obsolete cell", + "abnormal metabolic process", + "cellular process", + "abnormal cellular process", + "regulation of cellular metabolic process", + "regulation of metabolic process", "regulation of cellular process", "negative regulation of biological process", + "nucleobase-containing compound metabolic process", "organic cyclic compound metabolic process", + "macromolecule metabolic process", + "obsolete cellular aromatic compound metabolic process", + "organelle organization", + "obsolete cellular nitrogen compound metabolic process", "cellular component organization", - "regulation of macromolecule metabolic process", + "Growth abnormality", + "programmed DNA elimination by chromosome breakage", "regulation of gene expression", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "programmed DNA elimination", - "Abnormal cellular physiology", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "Chromosome breakage", - "regulation of cellular biosynthetic process", - "negative regulation of biosynthetic process", - "DNA metabolic process", + "abnormal telencephalon morphology", + "anatomical entity", + "cellular organisms", + "polyatomic entity", + "Abnormality of head or neck", + "craniocervical region", "haemolymphatic fluid", - "blood", - "chalcogen molecular entity", - "pnictogen molecular entity", - "negative regulation of macromolecule metabolic process", - "bodily fluid", - "nucleobase-containing compound metabolic process", - "negative regulation of metabolic process", - "increased level of alpha-fetoprotein", - "peptide", - "amino acid chain", - "Abnormality of metabolism/homeostasis", - "carbon group molecular entity", - "regulation of biological process", - "abnormal blood chemical entity level", - "increased level of chemical entity", - "abnormal blood protein polypeptide chain level", - "increased level of protein", - "Abnormal circulating organic amino compound concentration", - "Abnormal circulating metabolite concentration", - "abnormal independent continuant alpha-fetoprotein level", - "organism substance", - "Abnormal circulating alpha-fetoprotein concentration", - "abnormal blood alpha-fetoprotein level", - "primary amide", - "carboxamide", - "abnormal primary metabolic process", - "organic amino compound", - "abnormal blood nitrogen molecular entity level", + "body proper", + "aplasia or hypoplasia of telencephalon", + "regional part of brain", + "abnormal craniocervical region morphology", + "regional part of nervous system", + "forebrain", + "abnormal anatomical entity morphology in the brain", + "Abnormal skull morphology", + "Abnormal leukocyte morphology", + "Morphological central nervous system abnormality", + "cell", + "neutrophil", + "anterior region of body", + "multi-tissue structure", + "abnormal biological_process", "abnormal role bodily fluid level", - "Abnormal circulating organic compound concentration", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormal skeletal morphology", + "erythroid lineage cell", "obsolete heterocycle metabolic process", - "organic molecular entity", - "protein", + "Abnormal axial skeleton morphology", + "Chromosome breakage", + "abnormal chromatin organization", + "mesoderm-derived structure", "macromolecule", - "main group molecular entity", - "abnormal protein level", - "organooxygen compound", - "amide", - "organonitrogen compound", - "protein polypeptide chain", - "molecular entity", - "disconnected anatomical group", - "protein-containing molecular entity", - "abnormal platelet", - "abnormal independent continuant protein polypeptide chain level", - "abnormality of multicellular organism height", "anatomical system", - "abnormal independent continuant chemical entity level", - "Abnormality of the head", - "skeletal element", - "abnormal head", - "bone cell", - "information biomacromolecule", - "abnormal bone marrow cell morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormality of bone marrow cell morphology", - "abnormal erythroid lineage cell morphology", - "tissue", - "abnormal role blood level", - "Abnormal granulocyte count", - "abnormal hematopoietic system morphology", - "obsolete cellular nitrogen compound metabolic process", - "subdivision of organism along main body axis", + "main body axis", + "immune system", + "myeloid cell", + "organonitrogen compound", + "root", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal nervous system", + "Abnormal neutrophil count", + "brain", + "abnormal anatomical entity morphology in the independent continuant", "abnormal bone marrow morphology", - "Abnormality of body height", - "Abnormal cellular immune system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal platelet morphology", - "polypeptide", - "biogenic amine secreting cell", - "macromolecule metabolic process", - "abnormal hematopoietic cell morphology", + "quality", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal myeloid leukocyte morphology", + "myeloid leukocyte", + "biological_process", + "phenotype by ontology source", "anucleate cell", - "secretory cell", - "serotonin secreting cell", - "abnormally decreased number of platelet", - "negative regulation of gene expression", - "abnormal forebrain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal nervous system morphology", - "bone element", - "body proper", - "regulation of biosynthetic process", - "abnormal cellular process", - "Abnormality of brain morphology", + "granulocyte", + "abnormal number of anatomical enitites of type myeloid cell", + "musculoskeletal system", "Abnormal cell morphology", - "Abnormal forebrain morphology", - "Aplasia/Hypoplasia of the cerebrum", - "material entity", - "abnormal blood cell morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "organ", - "organism subdivision", - "Abnormal nervous system morphology", - "protein-DNA complex organization", - "abnormal telencephalon morphology", - "quality", + "phenotype", + "Abnormal cellular phenotype", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal number of anatomical enitites of type anatomical entity", + "nervous system", + "anatomical collection", + "All", + "abnormal skull morphology", + "increased level of protein", + "abnormally decreased number of leukocyte in the independent continuant", "aplasia or hypoplasia of anatomical entity", - "biological regulation", - "regulation of macromolecule biosynthetic process", - "process", - "cellular organisms", - "multi-tissue structure", - "main body axis", - "delayed growth", - "organism", - "Microcephaly", - "immune system", - "abnormal craniocervical region", - "Abnormal cerebral morphology", - "Abnormality of the musculoskeletal system", - "anterior region of body", + "Abnormal leukocyte count", + "decreased size of the anatomical entity in the independent continuant", + "secretory cell", + "central nervous system", + "abnormal blood alpha-fetoprotein level", + "hemolymphoid system", + "material anatomical entity", + "abnormal platelet morphology", + "Abnormal platelet count", + "growth", + "abnormally decreased number of anatomical entity in the independent continuant", + "serotonin secreting cell", + "nucleate cell", + "postcranial axial skeletal system", + "abnormal phenotype by ontology source", + "hematopoietic cell", + "skeletal system", + "motile cell", + "abnormal growth", + "abnormal leukocyte morphology", + "independent continuant", + "abnormal immune system morphology", + "nitrogen molecular entity", + "chromatin organization", + "negative regulation of macromolecule biosynthetic process", + "abnormal number of anatomical enitites of type granulocyte", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "amino acid chain", + "tissue", + "abnormal axial skeleton plus cranial skeleton morphology", + "organic molecular entity", + "primary amide", + "eukaryotic cell", + "skull", + "abnormal head", + "Abnormal myeloid leukocyte morphology", + "Abnormality of brain morphology", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "information biomacromolecule", + "multicellular organism", + "hematopoietic system", "abnormally decreased number of neutrophil", + "Abnormal granulocyte count", + "Abnormality of the skeletal system", + "Abnormal granulocyte morphology", + "anatomical structure", + "regulation of macromolecule biosynthetic process", + "Abnormal circulating metabolite concentration", + "abnormally decreased number of granulocyte", + "structure with developmental contribution from neural crest", + "abnormal neutrophil", + "ectoderm-derived structure", "abnormally decreased number of hematopoietic cell", - "forebrain", - "negative regulation of cellular metabolic process", - "telencephalon", - "obsolete cell", - "occurrent", - "abnormal skeletal system morphology", + "pnictogen molecular entity", + "Abnormal nervous system morphology", + "abnormally decreased number of cell", "oxygen molecular entity", - "anatomical collection", - "Abnormality of skull size", - "abnormal skull morphology", + "abnormal cell", + "abnormal programmed DNA elimination by chromosome breakage", + "organochalcogen compound", + "oxygen accumulating cell", + "protein", + "organic amino compound", + "Abnormal erythroid lineage cell morphology", + "leukocyte", + "Abnormality of chromosome stability", + "abnormal central nervous system morphology", + "material entity", + "abnormal alpha-fetoprotein level", + "Aplasia/Hypoplasia involving the central nervous system", + "Microcephaly", + "abnormal DNA metabolic process", + "blood cell", "chemical entity", - "regional part of brain", - "decreased size of the anatomical entity", - "musculoskeletal system", + "abnormal myeloid cell morphology", + "Abnormal myeloid cell morphology", + "abnormal forebrain morphology", + "negative regulation of gene expression", + "Phenotypic abnormality", + "abnormal blood cell morphology", + "Neutropenia", + "abnormally decreased number of cell in the independent continuant", "multicellular anatomical structure", - "skull", + "Abnormality of neutrophils", + "Abnormality of skull size", + "subdivision of organism along main body axis", + "abnormal skeletal system morphology", + "protein-containing material entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "Abnormal immune system morphology", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of anatomical entity", + "Elevated circulating alpha-fetoprotein concentration", + "abnormally decreased number of granulocyte in the independent continuant", + "non-connected functional system", + "abnormal size of multicellular organism", + "bone element", + "abnormally decreased number of leukocyte", + "abnormal hematopoietic cell morphology", + "abnormal granulocyte morphology", + "Chromosomal breakage induced by crosslinking agents", + "Abnormal circulating organic compound concentration", + "protein-containing molecular entity", + "skeleton", "bone marrow", - "Eukaryota", - "abnormal nervous system", - "Abnormal circulating nitrogen compound concentration", - "Abnormal axial skeleton morphology", - "erythroid lineage cell", - "abnormal size of anatomical entity", - "root", - "Abnormal neutrophil count", - "abnormal central nervous system morphology", - "abnormal size of skull", - "head", - "abnormally decreased number of granulocyte", - "organ system subdivision", - "Abnormal skull morphology", - "Abnormal circulating protein concentration", - "skeletal system", - "abnormal role independent continuant level", - "regional part of nervous system", - "Abnormal granulocyte morphology", - "subdivision of skeleton", - "subdivision of skeletal system", - "ectoderm-derived structure", - "cellular component organization or biogenesis", + "abnormal hematopoietic system", + "disconnected anatomical group", "abnormal immune system", - "polyatomic entity", - "Bone marrow hypocellularity", - "Abnormality of the nervous system", + "abnormal anatomical entity", "abnormal independent continuant nitrogen molecular entity level", - "abnormal craniocervical region morphology", - "craniocervical region", - "Abnormal leukocyte morphology", + "Abnormality of the head", + "Abnormal forebrain morphology", + "Abnormality of the immune system", + "Thrombocytopenia", + "abnormal anatomical entity morphology", + "Abnormal cerebral morphology", + "specifically dependent continuant", + "erythrocyte", "abnormal blood cell", - "abnormally decreased number of cell in the independent continuant", - "abnormal cellular component organization", + "organ system subdivision", + "abnormal size of skull", + "abnormal postcranial axial skeleton morphology", + "abnormal cell morphology", + "abnormal nervous system morphology", + "organism subdivision", + "decreased size of the anatomical entity", + "blood", + "subdivision of skeleton", + "Opisthokonta", + "telencephalon", + "axial skeletal system", + "abnormally decreased number of myeloid cell in the independent continuant", "cranial skeletal system", - "abnormal neutrophil", - "abnormal multicellular organism chemical entity level", - "abnormal immune system morphology", - "biological_process", - "alpha-fetoprotein", - "Abnormal myeloid cell morphology", - "nucleate cell", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Abnormal cellular phenotype", - "negative regulation of cellular process", - "hematopoietic system", - "blood cell", - "postcranial axial skeletal system", - "All", + "postcranial axial skeleton", + "abnormal skeletal system", + "Metazoa", + "axial skeleton plus cranial skeleton", + "Abnormality of the nervous system", "Eumetazoa", - "leukocyte", - "skeleton", - "mesoderm-derived structure", - "abnormal leukocyte morphology", - "nucleic acid metabolic process", - "p-block molecular entity", - "abnormal hematopoietic system", + "Eukaryota", + "abnormal craniocervical region", + "organism", "Decreased head circumference", - "specifically dependent continuant", - "regulation of metabolic process", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "bone marrow cell", - "abnormally decreased number of myeloid cell", - "abnormal head morphology", - "Growth abnormality", - "nervous system", - "motile cell", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "organelle organization", - "abnormal granulocyte morphology", - "hematopoietic cell", - "abnormal chemical entity level", - "abnormal number of anatomical enitites of type leukocyte", - "protein-containing material entity", - "programmed DNA elimination by chromosome breakage", - "Neutropenia", - "abnormal skeletal system", - "abnormal cell", - "hemolymphoid system", - "abnormal anatomical entity morphology in the brain", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "phenotype by ontology source", - "abnormal independent continuant protein level", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal DNA metabolic process", - "metabolic process", - "Phenotypic abnormality", - "myeloid cell", - "abnormal number of anatomical enitites of type granulocyte", - "abnormally decreased number of cell", - "neutrophil", - "independent continuant", - "Abnormality of blood and blood-forming tissues", - "anatomical structure", - "entity", - "brain", - "abnormal myeloid leukocyte morphology", - "Abnormal leukocyte count", - "phenotype", - "Abnormality of the skeletal system", - "platelet", - "abnormally decreased number of leukocyte", - "continuant", - "aplasia or hypoplasia of telencephalon", - "abnormal biological_process", - "primary metabolic process", - "abnormal anatomical entity morphology", - "Abnormality of the immune system", - "anatomical entity", - "Abnormal platelet count", - "abnormal alpha-fetoprotein level", - "Abnormal platelet morphology", - "central nervous system", - "Abnormality of neutrophils", + "Abnormality of thrombocytes", + "abnormal size of anatomical entity", + "abnormal platelet", "cellular metabolic process", - "cell", - "structure with developmental contribution from neural crest", - "abnormally decreased number of granulocyte in the independent continuant", - "abnormally decreased number of anatomical entity in the independent continuant", - "axial skeleton plus cranial skeleton", - "Abnormal skeletal morphology", + "biogenic amine secreting cell", + "abnormal blood chemical entity level", + "abnormal number of anatomical enitites of type platelet", + "abnormally decreased number of platelet", + "bone marrow cell", + "abnormal blood protein polypeptide chain level", + "bone cell", + "Abnormality of bone marrow cell morphology", + "polypeptide", + "abnormal hematopoietic system morphology", + "Bone marrow hypocellularity", + "skeletal element", + "negative regulation of cellular metabolic process", + "abnormal bone marrow cell morphology", + "Anemia", "abnormal bone marrow cell", - "abnormal anatomical entity", - "axial skeletal system", - "abnormal growth", - "eukaryotic cell", - "material anatomical entity", - "Morphological central nervous system abnormality", - "abnormally decreased number of myeloid cell in the independent continuant", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of head or neck", - "Metazoa", - "granulocyte", - "multicellular organism", - "abnormal cell morphology", + "Abnormal circulating alpha-fetoprotein concentration", + "Abnormality of multiple cell lineages in the bone marrow", + "carbon group molecular entity", + "abnormal independent continuant chemical entity level", + "Abnormal circulating nitrogen compound concentration", + "peptide", + "continuant", + "protein polypeptide chain", + "abnormal chemical entity level", + "abnormal number of anatomical enitites of type hematopoietic cell", + "process", + "abnormal role independent continuant level", + "abnormal independent continuant protein level", + "chalcogen molecular entity", + "entity", + "subdivision of skeletal system", + "Abnormal circulating protein concentration", + "Abnormality of the musculoskeletal system", + "abnormally decreased number of myeloid cell", + "abnormal protein level", + "metabolic process", + "bodily fluid", + "organism substance", + "organ", + "occurrent", + "increased level of alpha-fetoprotein", + "abnormal role blood level", + "Abnormality of metabolism/homeostasis", + "organic substance metabolic process", + "Abnormal cellular physiology", + "increased level of chemical entity", + "head", + "amide", + "platelet", + "organooxygen compound", + "abnormal independent continuant alpha-fetoprotein level", + "p-block molecular entity", "biomacromolecule", - "Opisthokonta", - "abnormally decreased number of anatomical entity", - "Abnormality of thrombocytes", - "protein-containing complex organization", - "abnormal axial skeleton plus cranial skeleton morphology", - "Abnormal myeloid leukocyte morphology", - "Thrombocytopenia", - "Short stature", - "non-connected functional system", - "abnormal phenotype by ontology source", - "abnormal number of anatomical enitites of type neutrophil", - "regulation of cellular metabolic process", - "abnormal myeloid cell morphology", - "abnormal brain morphology", + "Abnormal platelet morphology", "heteroorganic entity", - "Elevated circulating alpha-fetoprotein concentration", - "postcranial axial skeleton", - "obsolete cellular aromatic compound metabolic process", - "abnormally decreased number of leukocyte in the independent continuant", - "organochalcogen compound", - "nitrogen molecular entity", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal size of multicellular organism", - "myeloid leukocyte", + "alpha-fetoprotein", + "abnormal head morphology", + "abnormal independent continuant protein polypeptide chain level", + "Abnormality of blood and blood-forming tissues", + "molecular entity", + "DNA metabolic process", + "carboxamide", + "abnormal blood nitrogen molecular entity level", + "Abnormal circulating organic amino compound concentration", + "abnormal multicellular organism chemical entity level", + "main group molecular entity", + "negative regulation of cellular biosynthetic process", ], }, { @@ -12806,1116 +12806,1116 @@ def autocomplete_response(): "namespace": "MONDO", "has_phenotype": [ "HP:0001249", - "HP:0000252", "HP:0009777", "HP:0000238", + "HP:0006433", + "HP:0002650", + "HP:0002023", + "HP:0000252", "HP:0001510", "HP:0006349", "HP:0000125", "HP:0005528", - "HP:0006433", "HP:0000568", "HP:0007099", "HP:0001903", "HP:0003221", "HP:0031936", "HP:0002144", - "HP:0002650", - "HP:0002023", "HP:0003764", ], "has_phenotype_label": [ "Intellectual disability", - "Microcephaly", "Absent thumb", "Hydrocephalus", + "Radial dysplasia", + "Scoliosis", + "Anal atresia", + "Microcephaly", "Growth delay", "Agenesis of permanent teeth", "Pelvic kidney", "Bone marrow hypocellularity", - "Radial dysplasia", "Microphthalmia", "Chiari type I malformation", "Anemia", "Chromosomal breakage induced by crosslinking agents", "Delayed ability to walk", "Tethered cord", - "Scoliosis", - "Anal atresia", "Nevus", ], "has_phenotype_count": 18, "has_phenotype_closure": [ - "UBERON:0002416", - "UPHENO:0003811", - "HP:0000951", + "HP:0001574", "HP:0011121", - "UPHENO:0076739", - "UBERON:0001245", - "UBERON:0000161", - "HP:0002023", - "HP:0000925", - "UPHENO:0002813", - "UPHENO:0074228", - "UBERON:0001130", - "HP:0010674", - "UBERON:0002240", + "UBERON:0002416", + "UPHENO:0002635", "UBERON:0005174", "HP:0002144", - "UPHENO:0087858", - "HP:0002143", - "HP:0031936", + "UBERON:0002240", + "HP:0012758", + "HP:0001270", + "HP:0002194", + "GO:0009890", + "GO:0031324", + "GO:0071824", + "UPHENO:0050021", + "GO:0010629", + "GO:0031049", + "GO:0060255", + "GO:0009889", + "GO:0048523", + "GO:0043933", + "UPHENO:0050116", + "GO:0006996", + "HP:0001939", + "HP:0003221", + "UPHENO:0049990", + "UPHENO:0050121", + "GO:0005623", + "UPHENO:0049748", "GO:0010468", - "GO:0010558", "GO:0031327", "GO:0006325", + "GO:0050794", "GO:0019222", "GO:0006139", - "GO:1901360", - "GO:0046483", - "GO:0006725", - "HP:0012758", - "GO:0034641", - "HP:0040012", + "GO:0043170", "UPHENO:0050845", - "HP:0031938", - "UPHENO:0049990", - "GO:0031049", - "GO:0065007", + "HP:0003220", + "GO:0071704", "GO:0008152", - "GO:0009987", - "UPHENO:0049748", - "UPHENO:0049700", - "HP:0001574", - "GO:0044237", - "GO:0071840", - "HP:0001939", "UPHENO:0050113", - "UPHENO:0050121", - "GO:0010556", - "GO:0031326", - "GO:0010605", - "GO:0031324", - "GO:0060255", - "GO:0009889", - "GO:0009892", - "GO:0048523", - "GO:0090304", - "GO:0006996", - "GO:0043933", - "HP:0001270", - "GO:0050789", - "GO:0071704", - "GO:0010629", + "HP:0012130", "UPHENO:0088162", - "UPHENO:0085118", - "UPHENO:0088170", "CL:0000764", - "UPHENO:0085068", "CL:0000232", "CL:0000081", - "UPHENO:0049873", - "HP:0002438", "UPHENO:0020013", - "UBERON:0004733", "HP:0011282", - "HP:0011283", + "UPHENO:0081601", + "UPHENO:0071309", "HP:0007099", - "UPHENO:0076957", + "UBERON:0004732", "UPHENO:0072814", - "UPHENO:0071309", - "UBERON:0002028", - "UBERON:0002037", - "HP:0002308", - "UBERON:0000063", "HP:0001317", - "UBERON:0000019", - "HP:0008056", - "UPHENO:0087924", - "UBERON:0002104", - "UBERON:0004456", - "UPHENO:0080209", + "UBERON:0000063", + "HP:0002438", + "UPHENO:0069523", + "HP:0012372", + "UBERON:0004088", "HP:0000568", - "CL:0002092", + "UPHENO:0012541", + "UPHENO:0075219", + "HP:0008056", + "HP:0000478", "HP:0000315", - "UBERON:0010712", - "UPHENO:0003020", - "UBERON:0004923", - "UPHENO:0075997", - "UBERON:0002495", - "HP:0006433", - "HP:0011314", - "UBERON:0002553", - "UBERON:0003466", - "UBERON:0010741", - "UPHENO:0081435", - "HP:0003330", - "UBERON:0002386", - "UPHENO:0002844", - "UPHENO:0047419", - "UPHENO:0020041", - "UPHENO:0002751", - "HP:0000164", - "UBERON:0002113", - "UBERON:0015021", - "HP:0002973", - "GO:0048519", - "UBERON:0002090", - "HP:0040070", - "UPHENO:0050116", - "UBERON:0010323", - "UPHENO:0000543", - "UBERON:0002471", - "UPHENO:0076718", - "UPHENO:0087501", - "UBERON:0002193", - "UPHENO:0084928", + "UPHENO:0068971", + "UPHENO:0021474", + "UBERON:0034923", + "UPHENO:0002948", + "HP:0025354", + "UPHENO:0087123", + "HP:0012145", + "HP:0001871", + "HP:0005528", + "CL:0000000", + "UPHENO:0087339", "UPHENO:0087355", - "HP:0025354", - "UPHENO:0056333", - "UPHENO:0004459", - "UBERON:0015203", - "HP:0005561", - "UBERON:0002405", - "HP:0000077", - "UPHENO:0080114", - "UBERON:0001474", - "UBERON:0002371", - "HP:0002715", "HP:0020047", - "UPHENO:0086172", - "UPHENO:0081755", + "CL:0002092", + "HP:0002715", + "UBERON:0002371", + "UPHENO:0049367", + "UPHENO:0087858", + "HP:0012210", + "UBERON:0005177", + "UPHENO:0085118", + "UBERON:0002113", "UPHENO:0053580", - "HP:0001903", - "UBERON:0007774", - "UPHENO:0076779", - "RO:0002577", - "HP:0000079", - "UBERON:0013701", "UBERON:0011143", - "UBERON:0006717", - "UPHENO:0011564", - "HP:0000086", - "UPHENO:0002832", - "HP:0012210", - "UBERON:0004122", - "UBERON:8450002", - "UBERON:0001359", - "UPHENO:0087427", - "UPHENO:0022529", - "UPHENO:0049367", - "UPHENO:0068971", - "UBERON:0003103", + "GO:0031052", "UBERON:0000489", "UBERON:0005173", - "UPHENO:0079872", "UBERON:0002417", - "HP:0012759", - "HP:0002818", + "UBERON:8450002", + "UBERON:0004122", + "HP:0010935", + "UBERON:0003103", "UBERON:0000916", - "HP:0000119", - "UBERON:0000033", - "UBERON:0000466", - "UPHENO:0069523", - "HP:0002664", + "HP:0100542", + "UBERON:0009569", + "UPHENO:0075902", + "UPHENO:0081755", + "UBERON:0001008", + "CL:0000329", + "HP:0000271", + "HP:0000086", + "UBERON:0003672", "HP:0011044", + "UBERON:0003913", + "CL:0000763", "HP:0031816", + "HP:0000164", "UBERON:0001091", + "GO:0034641", + "UPHENO:0011564", + "UBERON:0004921", + "UPHENO:0003020", + "UBERON:0002553", + "UBERON:0007774", + "GO:0065007", "UPHENO:0081526", + "HP:0000951", + "UPHENO:0002828", + "UBERON:0000167", "UPHENO:0076800", + "UPHENO:0002910", + "UBERON:0000466", + "UBERON:0013522", + "UPHENO:0000543", + "UPHENO:0049874", "HP:0001507", - "HP:0001871", - "UBERON:0000025", - "UPHENO:0063722", - "UBERON:0000167", - "UPHENO:0075219", - "BFO:0000141", - "UPHENO:0081601", - "UPHENO:0002828", - "UPHENO:0035025", - "GO:0044238", - "GO:0006807", - "UBERON:0003672", - "UPHENO:0063565", - "HP:0011793", - "UPHENO:0076786", - "GO:0050794", - "HP:0000153", - "UPHENO:0002826", "UBERON:0001456", - "UBERON:0004921", - "UPHENO:0002635", - "UPHENO:0026506", - "UBERON:0001555", - "UBERON:0003913", - "UBERON:0001007", - "UBERON:0001032", - "UBERON:0010707", - "UPHENO:0002833", - "UPHENO:0086633", - "UPHENO:0087510", - "GO:0008150", - "UBERON:0015061", - "UPHENO:0011589", - "CL:0000329", - "UBERON:0013522", - "UBERON:0003129", - "UBERON:0000165", - "GO:0040007", - "HP:0033127", - "UPHENO:0087349", - "HP:0011355", + "UPHENO:0000541", "HP:0001510", - "UBERON:0000153", - "UPHENO:0084761", - "UBERON:0006314", - "UPHENO:0014240", - "UBERON:0003947", - "HP:0002921", - "UBERON:0012139", - "UPHENO:0081598", - "UPHENO:0056072", - "UPHENO:0088185", - "UBERON:0005281", - "HP:0003764", - "UBERON:0005358", - "UBERON:0011584", - "UPHENO:0076702", - "UBERON:0007779", - "UBERON:0004732", + "UPHENO:0002764", + "NCBITaxon:6072", + "UPHENO:0075195", + "UBERON:0007811", + "UBERON:0001137", + "UBERON:0000033", + "GO:0006725", + "UBERON:0001893", + "UBERON:0000970", + "NCBITaxon:33154", + "UBERON:0001890", + "UPHENO:0080200", + "UBERON:0002616", + "UPHENO:0087472", + "UBERON:0010323", + "UPHENO:0076739", + "HP:0007364", + "HP:0000234", + "HP:0000252", + "NCBITaxon:1", + "HP:0002308", + "UPHENO:0081566", + "UPHENO:0087907", + "HP:0000119", + "HP:0000152", "UPHENO:0075220", - "UPHENO:0000541", - "UPHENO:0087339", - "UPHENO:0078606", - "UPHENO:0002896", - "HP:0000238", - "UPHENO:0001003", - "UBERON:0000463", - "UPHENO:0012541", - "PATO:0000001", - "UPHENO:0049874", - "HP:0002194", - "UPHENO:0056212", - "UBERON:0000064", - "UBERON:0008962", - "UBERON:0002102", - "UPHENO:0053588", - "UBERON:0000060", - "HP:0006483", - "UBERON:0015212", - "HP:0002650", - "UPHENO:0086700", - "HP:0045060", - "UBERON:0002398", - "HP:0010935", - "HP:0012130", - "UBERON:0005881", - "UBERON:0002199", - "UBERON:5002544", - "UBERON:0004708", + "HP:0000240", "CL:0000988", - "HP:0001167", - "UBERON:0010740", - "UBERON:5001463", - "UPHENO:0086956", + "HP:0002060", + "GO:0050789", + "UBERON:0013701", + "UBERON:0001032", + "UBERON:0000481", "UBERON:5002389", - "UPHENO:0085144", - "HP:0002977", - "UBERON:0010758", + "BFO:0000003", + "GO:0010556", + "UBERON:0000165", "PR:000050567", - "HP:0040064", - "UPHENO:0084448", - "HP:0009115", - "HP:0006349", - "UBERON:0004710", - "UBERON:0008785", - "UBERON:0001440", - "GO:0003008", + "UBERON:0002204", + "UPHENO:0020041", + "UPHENO:0086700", + "UBERON:0002529", + "HP:0003764", + "UBERON:0019221", + "GO:0040007", + "UBERON:0001460", + "UPHENO:0020584", + "UBERON:0013702", + "HP:0002813", + "UBERON:0002091", + "UPHENO:0084763", + "UPHENO:0076779", + "UPHENO:0088185", + "UBERON:0007779", + "UBERON:0010712", + "UBERON:0010538", + "UBERON:0002405", + "UBERON:0011584", + "UBERON:0000026", + "UPHENO:0049587", + "UPHENO:0002844", + "UBERON:0019231", + "UBERON:0004375", "HP:0009777", - "UBERON:0000468", - "NCBITaxon:2759", - "UPHENO:0087089", - "UPHENO:0080099", - "UPHENO:0080325", - "UPHENO:0079876", - "UBERON:0034923", - "UBERON:0002390", - "UBERON:0012354", - "UBERON:0004381", + "HP:0001155", + "UBERON:0011137", + "GO:0046483", + "UPHENO:0084766", + "UBERON:0015212", + "UPHENO:0076799", + "UPHENO:0080126", + "HP:0000924", + "UBERON:0011582", + "HP:0009815", + "UBERON:0000075", + "UPHENO:0003811", + "UPHENO:0081598", + "UBERON:0000060", + "HP:0009115", + "UPHENO:0087501", + "UBERON:0003606", + "OBI:0100026", + "UPHENO:0087518", + "UPHENO:0008523", + "UBERON:0002495", + "HP:0100887", "UBERON:0012140", - "UPHENO:0071344", - "UBERON:0004088", - "GO:0043170", - "UPHENO:0076720", - "UPHENO:0002433", - "UBERON:0001463", "CL:0001035", - "UPHENO:0086635", - "UPHENO:0056237", - "UBERON:0001444", - "UBERON:0011676", - "UPHENO:0084766", "UBERON:0005172", - "HP:0000252", - "UBERON:0012141", - "UPHENO:0080126", - "UPHENO:0076692", - "UBERON:0000479", - "UBERON:0004120", - "UBERON:0010912", - "HP:0011844", - "HP:0001877", - "UPHENO:0011498", - "UBERON:0002470", - "UPHENO:0049587", - "UPHENO:0087123", - "HP:0034915", - "UBERON:0010538", + "HP:0002973", + "UPHENO:0002832", "UPHENO:0002803", - "UPHENO:0002332", - "UPHENO:0076727", - "UBERON:0001442", - "UBERON:0010363", - "UPHENO:0076740", - "UBERON:0002389", - "UPHENO:0002948", - "UPHENO:0002708", - "UBERON:0011582", - "UBERON:0000970", - "UPHENO:0008668", - "HP:0000125", - "UPHENO:0006910", - "UBERON:0006058", - "HP:0002118", - "GO:0031323", - "UBERON:0011249", - "UBERON:0019231", - "UBERON:0001008", - "UBERON:5006048", + "UPHENO:0086633", + "UBERON:0000475", + "GO:0071840", + "UPHENO:0026181", + "UBERON:0001440", + "GO:0003008", + "HP:0002921", + "HP:0001877", + "UBERON:0001463", + "UBERON:0000468", + "UBERON:0002199", + "UBERON:0002193", "UPHENO:0018390", - "UBERON:0010708", - "HP:0000478", - "UPHENO:0026028", - "UPHENO:0076703", - "UPHENO:0081466", - "UBERON:0002091", - "HP:0009601", - "HP:0001155", + "UPHENO:0008668", + "HP:0012638", + "UPHENO:0076727", + "HP:0000153", + "UPHENO:0063844", + "HP:0006265", + "UPHENO:0087089", "HP:0040195", - "HP:0009815", - "UPHENO:0047299", - "UPHENO:0075696", + "UPHENO:0001005", + "UPHENO:0074228", + "GO:0006807", + "UPHENO:0006910", + "UBERON:0007272", "HP:0011297", - "UBERON:0004121", - "UBERON:0000955", - "HP:0006265", - "UBERON:0003606", - "NCBITaxon:1", - "UPHENO:0008523", - "UPHENO:0087006", - "UBERON:0001016", - "HP:0005922", - "UPHENO:0084763", - "UPHENO:0009382", - "HP:0011017", + "UBERON:0011676", + "HP:0011446", + "HP:0000118", + "HP:0045060", + "HP:0002143", "UBERON:0010230", - "HP:0002011", - "HP:0009121", - "UPHENO:0002910", - "NCBITaxon:33208", - "NCBITaxon:131567", - "UBERON:0002100", - "HP:0006496", - "HP:0012372", - "HP:0005927", - "UBERON:0015001", - "UPHENO:0050021", - "UPHENO:0002964", - "UBERON:0002544", - "GO:0006259", - "OBI:0100026", + "GO:0050877", + "HP:0034915", + "UPHENO:0002708", + "HP:0011017", + "UBERON:0012141", + "UBERON:0002102", + "GO:0044238", + "UPHENO:0088170", + "UPHENO:0001001", "UBERON:0000464", - "UPHENO:0076724", - "UBERON:0000481", - "UBERON:0012475", - "GO:0016043", - "GO:0009890", - "HP:0025031", "UPHENO:0086589", - "UPHENO:0015280", - "UBERON:0002428", - "UBERON:0010703", - "UPHENO:0087518", - "UBERON:0003607", - "UPHENO:0076805", - "HP:0002813", - "UBERON:0001893", "UPHENO:0076791", - "UBERON:0004111", - "GO:0050890", - "HP:0000271", - "NCBITaxon:6072", - "HP:0012145", - "GO:0031052", - "UBERON:0013702", - "HP:0040072", - "UBERON:0002204", - "UPHENO:0075195", - "UBERON:0004086", - "UPHENO:0002764", - "HP:0000240", + "UPHENO:0079876", + "UBERON:0002037", "HP:0001172", - "GO:0005623", - "UPHENO:0004523", - "HP:0025461", + "HP:0002650", + "UPHENO:0087427", + "UPHENO:0002332", + "UBERON:0005451", + "UBERON:0004111", + "UPHENO:0014240", + "UBERON:0004120", + "HP:0001167", + "HP:0040064", + "UBERON:0010707", + "UPHENO:0002964", + "UBERON:0002101", + "BFO:0000001", + "UBERON:0011249", + "HP:0009380", + "UBERON:0001444", + "HP:0011842", + "UPHENO:0075696", + "UBERON:0002470", + "UBERON:0002390", + "UBERON:0010000", + "UPHENO:0085195", + "UBERON:0012475", + "HP:0011283", + "UPHENO:0075997", + "UPHENO:0020888", + "GO:0008150", + "PATO:0000001", + "UPHENO:0026028", + "UPHENO:0081435", + "UBERON:5006048", + "HP:0010674", + "UPHENO:0002839", + "UBERON:0010314", + "UBERON:0001062", + "UPHENO:0076957", + "UBERON:0011216", + "HP:0009804", + "HP:0005922", + "UBERON:0002097", + "HP:0006349", + "HP:0012759", + "UBERON:0002398", + "BFO:0000015", + "GO:0010605", + "GO:0009892", + "HP:0011844", + "UPHENO:0080079", + "HP:0100543", + "UBERON:0006717", + "UPHENO:0001003", + "UPHENO:0076724", + "UBERON:0000061", + "UPHENO:0086172", + "HP:0000707", + "HP:0000125", + "HP:0002817", + "HP:0009601", + "UPHENO:0084928", + "UBERON:0003607", + "UBERON:0000062", + "UPHENO:0076803", + "UPHENO:0002896", + "UPHENO:0049873", + "HP:0005561", + "UBERON:0000153", + "UPHENO:0076740", + "UBERON:0001016", + "UBERON:0001017", + "UBERON:0006314", + "UPHENO:0053588", + "UPHENO:0063722", + "UPHENO:0063599", + "GO:0090304", + "UPHENO:0015280", + "UBERON:0000479", + "UPHENO:0035025", + "UBERON:0001007", + "UPHENO:0049700", + "UPHENO:0011589", + "HP:0005927", + "NCBITaxon:33208", "UPHENO:0002536", - "UPHENO:0063599", + "UPHENO:0076692", + "UBERON:0000019", + "UBERON:0010708", + "GO:0050890", + "UPHENO:0084761", + "UPHENO:0047419", + "UPHENO:0011498", + "HP:0006496", "UBERON:0001434", - "UBERON:0000020", - "UPHENO:0076799", - "HP:0012443", - "HP:0012639", - "HP:0000924", - "UPHENO:0075902", + "UPHENO:0004523", + "UPHENO:0056237", + "UBERON:0010758", + "UPHENO:0026506", + "GO:0032501", + "UPHENO:0004459", + "UBERON:0002428", + "BFO:0000004", "HP:0000001", - "UPHENO:0080200", - "UPHENO:0063844", - "HP:0000152", - "UBERON:0001890", - "UPHENO:0026181", - "BFO:0000003", - "UBERON:0002616", - "UBERON:0004288", - "UPHENO:0026183", - "UPHENO:0081451", - "UPHENO:0020888", - "UPHENO:0035147", - "UBERON:0005944", - "UPHENO:0086644", - "UBERON:0011138", + "UBERON:0001442", + "UPHENO:0080209", + "UBERON:0004923", + "UBERON:0012354", + "UBERON:0000020", + "HP:0040072", + "UPHENO:0080099", + "UBERON:0003129", + "UBERON:0015061", + "HP:0001249", + "UPHENO:0002833", + "UPHENO:0076703", + "BFO:0000040", + "UBERON:0002544", + "GO:0006259", + "UPHENO:0076720", + "UBERON:0002100", + "UPHENO:0082875", + "UBERON:0001474", + "UBERON:0005358", + "GO:0044237", + "HP:0002977", + "UBERON:0010363", + "UBERON:0006058", + "NCBITaxon:131567", + "UPHENO:0076723", + "HP:0000077", "UPHENO:0002905", - "CL:0000000", - "UPHENO:0085195", - "UBERON:0011137", - "UBERON:0002097", + "UPHENO:0086635", + "HP:0033127", + "UBERON:0002471", + "HP:0040070", + "HP:0100547", + "UPHENO:0002880", + "GO:1901360", + "BFO:0000141", "UPHENO:0002830", - "HP:0007364", - "UBERON:0005282", - "UBERON:0000075", - "HP:0000118", - "UBERON:0000475", - "UPHENO:0001001", - "UBERON:0001423", - "UBERON:0002513", - "UPHENO:0076803", - "NCBITaxon:33154", - "UBERON:0011216", - "BFO:0000015", - "UPHENO:0080079", - "UBERON:0001017", - "HP:0003221", - "BFO:0000004", - "UBERON:0001895", - "UBERON:0000073", - "HP:0009380", + "HP:0001903", + "UBERON:0005944", + "UBERON:0034925", + "UBERON:0004708", + "UPHENO:0086932", + "UBERON:5002544", "UBERON:0000465", - "UPHENO:0020584", - "UBERON:0000061", - "UBERON:0001460", - "UBERON:0010314", - "UBERON:0000062", - "UPHENO:0021474", - "UBERON:0003460", - "HP:0100543", - "GO:0071824", + "UBERON:0001130", + "UBERON:0005881", + "HP:0003330", + "HP:0040012", + "UPHENO:0071344", + "UBERON:0000467", + "UPHENO:0081466", + "UBERON:0004765", + "UPHENO:0085144", + "UBERON:0004288", + "GO:0010558", + "UBERON:0008785", + "UBERON:0012139", + "UPHENO:0084448", + "UBERON:0004710", + "UPHENO:0085068", + "UPHENO:0009382", + "HP:0000238", + "UBERON:5001463", + "HP:0000163", + "UPHENO:0002433", + "UBERON:0003947", + "NCBITaxon:2759", + "UBERON:0002389", + "UBERON:0001895", + "UPHENO:0002826", + "UBERON:0010740", + "UBERON:0004121", + "UBERON:0015203", "UPHENO:0002642", - "HP:0011446", + "UPHENO:0080325", + "HP:0011355", + "UBERON:0001359", + "UPHENO:0087006", + "UPHENO:0088047", + "UBERON:0000064", + "UPHENO:0056212", + "UPHENO:0078606", + "HP:0002664", + "UBERON:0004733", + "UPHENO:0056333", + "HP:0012443", + "UPHENO:0035147", + "UBERON:0005282", + "HP:0000929", + "UBERON:0000073", + "RO:0002577", + "UBERON:0000955", + "UBERON:0005281", + "GO:0016043", + "HP:0002011", + "UBERON:0000047", + "HP:0025461", + "UPHENO:0076805", + "GO:0031323", + "HP:0000079", + "UBERON:0002513", + "UBERON:0011138", + "UPHENO:0026183", + "HP:0040068", + "UPHENO:0056072", + "UBERON:0002028", "BFO:0000002", + "HP:0012639", + "UPHENO:0047299", + "UBERON:0004086", + "UPHENO:0076702", + "HP:0031938", + "UBERON:0000463", + "UBERON:0000161", + "HP:0025031", + "UBERON:0002104", + "HP:0002118", + "UPHENO:0081451", + "UPHENO:0087349", + "UBERON:0002386", + "UBERON:0015021", + "GO:0009987", + "UBERON:0010703", + "UPHENO:0086956", + "UPHENO:0079872", + "UPHENO:0002751", + "BFO:0000020", + "UBERON:0001555", "UBERON:0006048", - "HP:0040068", - "UPHENO:0087907", - "UBERON:0005451", - "GO:0032501", - "UPHENO:0086932", - "HP:0000234", - "HP:0100547", + "UPHENO:0087510", + "UPHENO:0080114", + "UBERON:0015001", + "UBERON:0004381", + "UBERON:0008962", "HP:0004378", - "HP:0011842", - "GO:0050877", - "UPHENO:0082875", - "HP:0100887", - "UBERON:0005177", - "UBERON:0002529", - "UBERON:0004765", - "HP:0100542", - "UBERON:0007272", - "BFO:0000001", - "UBERON:0019221", - "UPHENO:0087472", - "BFO:0000020", - "UPHENO:0081566", - "UBERON:0000047", - "HP:0000929", - "UPHENO:0088047", - "UBERON:0001062", - "HP:0009804", - "UBERON:0004375", - "HP:0025033", - "HP:0000707", - "UPHENO:0002880", - "UBERON:0000467", - "HP:0002060", - "UPHENO:0076723", - "UPHENO:0002839", - "UBERON:0009569", - "UBERON:0002101", - "HP:0005528", - "BFO:0000040", - "UPHENO:0001005", - "CL:0000763", - "HP:0000163", - "HP:0002817", - "UBERON:0001137", - "UBERON:0034925", - "UBERON:0007811", - "HP:0012638", - "UBERON:0010000", - "HP:0003220", - "UBERON:0000026", + "HP:0031936", + "GO:0048519", + "HP:0011314", + "UPHENO:0086644", + "UBERON:0004456", + "UBERON:0001423", + "UPHENO:0087924", "UPHENO:0001002", - "HP:0001249", + "UBERON:0003460", + "UBERON:0010741", + "UBERON:0003466", + "UPHENO:0076718", + "HP:0000925", + "GO:0031326", + "UBERON:0002090", + "UPHENO:0002813", + "HP:0006433", + "UBERON:0000025", + "UPHENO:0022529", + "HP:0009121", + "HP:0011793", + "UPHENO:0076786", + "HP:0002818", + "HP:0002023", + "HP:0025033", + "UBERON:0001245", + "HP:0006483", + "UBERON:0010912", + "UPHENO:0063565", ], "has_phenotype_closure_label": [ + "Abnormality of the skin", + "abnormal skin of body morphology", + "skin of body", "integument", "integumental system", - "abnormal integument", - "abnormal skin of body morphology", - "Localized skin lesion", - "abnormal anus morphology", - "anatomical entity atresia", - "anus", - "Abnormality of the anus", - "Abnormal anus morphology", - "Abnormality of the vertebral column", - "abnormal vertebral column", - "vertebral column", - "Abnormal curvature of the vertebral column", - "Scoliosis", - "dorsal region element", + "Nevus", "Abnormal spinal cord morphology", - "Tethered cord", - "dorsum", "spinal cord", - "Delayed gross motor development", - "abnormal spinal cord morphology", - "abnormal metabolic process", - "biological regulation", - "metabolic process", - "cellular process", + "Abnormal conus terminalis morphology", + "dorsum", "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "Chromosomal breakage induced by crosslinking agents", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "regulation of cellular process", - "regulation of metabolic process", - "negative regulation of biological process", - "nucleobase-containing compound metabolic process", - "organic cyclic compound metabolic process", - "obsolete heterocycle metabolic process", - "obsolete cellular nitrogen compound metabolic process", - "cellular component organization", - "regulation of biosynthetic process", - "regulation of cellular metabolic process", - "negative regulation of cellular process", - "organelle organization", - "protein-containing complex organization", - "abnormal cellular process", - "regulation of gene expression", - "negative regulation of macromolecule biosynthetic process", - "programmed DNA elimination", - "obsolete cell", - "regulation of cellular biosynthetic process", "negative regulation of biosynthetic process", - "negative regulation of macromolecule metabolic process", - "negative regulation of cellular metabolic process", - "DNA metabolic process", - "myeloid cell", - "oxygen accumulating cell", - "blood cell", - "erythroid lineage cell", - "Anemia", - "abnormal erythroid lineage cell morphology", - "abnormal myeloid cell morphology", - "nucleic acid metabolic process", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "Abnormal metencephalon morphology", - "abnormally formed cerebellum", - "Abnormal hindbrain morphology", - "hindbrain", - "organic substance metabolic process", - "cerebellum", - "metencephalon", - "Chiari type I malformation", - "Abnormal cerebellum morphology", - "abnormal cerebellum morphology", - "abnormally formed anatomical entity in independent continuant", - "segmental subdivision of hindbrain", - "Abnormality of the skin", - "abnormal metencephalon morphology", - "abnormal hindbrain morphology", - "visual system", - "chromatin organization", - "sensory system", - "eye", - "orbital region", - "Neurodevelopmental delay", - "decreased size of the anatomical entity in the independent continuant", - "entire sense organ system", - "Abnormal cellular phenotype", - "Abnormality of the orbital region", - "abnormal eyeball of camera-type eye", - "eyeball of camera-type eye", - "camera-type eye", - "appendage girdle complex", - "decreased size of the eyeball of camera-type eye", - "anatomical conduit", - "Abnormality of globe size", - "forelimb endochondral element", - "abnormal forelimb zeugopod morphology", - "abnormal radius bone morphology", - "abnormal bone of pectoral complex morphology", - "dysgenesis of the radius bone", - "limb long bone", - "bone of free limb or fin", - "Abnormal morphology of the radius", - "arm bone", - "radius bone", - "Radial dysplasia", - "long bone", - "abnormally decreased number of anatomical entity", - "Abnormal forearm morphology", - "abnormal forebrain morphology", - "hematopoietic system", - "abnormally localised anatomical entity", - "non-connected functional system", - "system process", - "Neoplasm", - "abnormal bone marrow cell", - "abnormal nitrogen compound metabolic process", - "abnormal immune system", - "hemolymphoid system", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", - "abnormal bone marrow cell morphology", - "phenotype", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormality of bone marrow cell morphology", - "disconnected anatomical group", - "tissue", - "Abnormality of the immune system", - "phenotype by ontology source", - "cell", - "limb bone", - "abnormal cell morphology", - "macromolecule metabolic process", - "bone of pectoral complex", - "abnormal upper urinary tract", - "renal system", - "cavitated compound organ", - "anus atresia", - "abdomen", - "excretory system", - "Abnormality of the genitourinary system", - "Abnormality of limbs", - "Abnormal renal morphology", - "Growth abnormality", - "abnormal renal system morphology", - "subdivision of trunk", - "abdomen element", - "pectoral complex", - "trunk region element", - "Abnormal nervous system morphology", - "forelimb zeugopod", - "Abnormal conus terminalis morphology", - "Abnormality of head or neck", - "Abnormal eye morphology", - "abnormal kidney morphology", - "aplastic secondary dentition", - "Abnormality of skin morphology", - "brain ventricle/choroid plexus", - "abnormal number of anatomical enitites of type secondary dentition", - "bone marrow", - "tooth-like structure", - "digestive system", - "subdivision of head", - "abnormal location of anatomical entity", - "oral cavity", - "anatomical space", - "abnormal digestive system", - "subdivision of digestive tract", - "abnormal digestive system morphology", - "digestive tract", - "Abnormality of digestive system morphology", - "abnormal oral cavity morphology", - "abnormal mouth", - "simple eye", - "abnormally decreased number of anatomical entity in the independent continuant", - "quality", - "forelimb zeugopod bone", - "Agenesis of permanent teeth", - "Abnormality of the digestive system", - "mouth", - "tube", - "autopodial extension", - "Abnormal oral morphology", - "abnormal mouth morphology", - "abnormal size of eyeball of camera-type eye", - "aplastic anatomical entity", - "abnormal face", - "Abnormality of the upper urinary tract", - "abnormal dentition", - "growth", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "abnormal growth", - "Pelvic kidney", - "Abnormal localization of kidney", - "Abnormal erythroid lineage cell morphology", - "transudate", - "skeletal system", - "upper urinary tract", - "abnormally increased number of brain ventricle in the independent continuant", - "trunk", - "digit 1 plus metapodial segment", - "anatomical wall", - "abnormal anatomical entity morphology in the pectoral complex", - "bodily fluid", - "autopod region", - "compound organ", - "abnormal brain ventricle morphology", - "cerebrospinal fluid", - "Abnormal cerebrospinal fluid morphology", - "zeugopodial skeleton", - "ventricle of nervous system", - "brain ventricle", - "Aplasia/Hypoplasia involving the central nervous system", - "organism substance", - "specifically dependent continuant", - "Hydrocephalus", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Abnormal forearm bone morphology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "calcareous tooth", - "ventricular system of central nervous system", - "abnormal forelimb zeugopod bone", - "kidney", - "negative regulation of gene expression", - "ventricular system of brain", - "Abnormal cerebral ventricle morphology", - "abnormally increased number of anatomical entity in the independent continuant", - "abnormal kidney", - "abnormal brain ventricle/choroid plexus morphology", - "abnormal DNA metabolic process", + "abnormal organelle organization", + "programmed DNA elimination", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "nucleic acid metabolic process", + "protein-containing complex organization", + "regulation of biological process", + "primary metabolic process", + "obsolete nitrogen compound metabolic process", + "cellular component organization or biogenesis", + "abnormal cellular component organization", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "Chromosomal breakage induced by crosslinking agents", + "metabolic process", + "abnormal cellular process", + "regulation of cellular process", + "negative regulation of biological process", + "organelle organization", + "obsolete cellular nitrogen compound metabolic process", + "regulation of gene expression", + "negative regulation of cellular biosynthetic process", + "chromatin organization", + "Chromosome breakage", "abnormal chromatin organization", - "forelimb", - "Microphthalmia", - "malformed anatomical entity", - "autopodial skeleton", + "abnormal erythroid lineage cell morphology", + "Abnormal erythrocyte morphology", + "abnormal hematopoietic cell morphology", + "abnormal spinal cord morphology", + "Abnormal erythroid lineage cell morphology", + "abnormal myeloid cell morphology", + "oxygen accumulating cell", + "hematopoietic cell", + "abnormally formed anatomical entity", + "segmental subdivision of nervous system", + "hindbrain", + "Abnormal metencephalon morphology", + "Cerebellar malformation", "Motor delay", - "abnormal anatomical entity", - "paired limb/fin", - "abnormal limb long bone morphology", - "regulation of macromolecule metabolic process", - "continuant", - "aplastic manual digit 1", - "Abnormal appendicular skeleton morphology", - "delayed biological_process", - "abnormal anatomical entity morphology in the manus", - "abnormal hematopoietic system morphology", - "Abnormal number of teeth", - "Aplasia/hypoplasia involving the skeleton", - "pectoral appendage", - "mesoderm-derived structure", - "cellular component organization or biogenesis", - "Phenotypic abnormality", - "Abnormality of the face", - "abnormal digit morphology", - "orifice", - "abnormal orbital region", - "bone marrow cell", - "abnormal manus", - "abnormal anatomical entity morphology in the independent continuant", - "segment of manus", - "manual digit 1", - "multi-limb segment region", + "regulation of macromolecule biosynthetic process", + "abnormal size of eyeball of camera-type eye", + "abnormal face morphology", + "cellular metabolic process", + "simple eye", + "abnormal integument", + "eyeball of camera-type eye", + "decreased size of the anatomical entity in the independent continuant", + "orbital region", + "Abnormality of the orbital region", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", + "decreased size of the eyeball of camera-type eye", + "Anemia", + "camera-type eye", + "abnormal bone marrow cell", + "Abnormality of blood and blood-forming tissues", + "abnormal cell", "immune system", - "face", - "Microcephaly", - "abnormal craniocervical region", - "limb skeleton subdivision", - "manual digit plus metapodial segment", - "abnormal immune system morphology", - "radius endochondral element", - "Abnormal number of permanent teeth", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "abnormal cellular metabolic process", - "acropodium region", - "abnormally decreased number of calcareous tooth", - "Abnormality of the dentition", - "skeleton", - "Absent thumb", - "Abnormality of skull size", - "Abnormal digit morphology", - "aplasia or hypoplasia of manual digit", - "absent anatomical entity in the limb", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "Abnormality of the upper limb", - "abnormal telencephalon morphology", - "Bone marrow hypocellularity", - "Abnormality of the nervous system", - "abnormal cellular component organization", - "appendicular skeletal system", - "Eukaryota", - "forebrain", + "disconnected anatomical group", + "abnormal immune system", + "non-connected functional system", + "Abnormal cellular phenotype", "Abnormality of the integument", - "paired limb/fin segment", - "nervous system", - "skeleton of limb", - "Abnormal oral cavity morphology", - "regulation of biological process", - "Abnormal thumb morphology", - "Eumetazoa", - "segment of autopod", - "abnormal appendicular skeleton morphology", - "manual digit 1 or 5", - "abnormal anus", - "Abnormal cell morphology", - "organ component layer", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal forebrain morphology", - "manus", - "system", - "subdivision of organism along main body axis", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the hand", - "bone cell", - "digit 1", - "regional part of nervous system", - "abnormal head", - "abnormal autopod region morphology", - "digit", - "Abnormality of the skeletal system", - "abdominal segment of trunk", - "abnormal limb", - "Delayed ability to walk", - "regional part of brain", - "Intellectual disability", - "digit 1 or 5", - "absent manual digit", - "Abnormal hand morphology", - "All", - "Abnormal axial skeleton morphology", - "appendicular skeleton", "abnormal skin of body", - "segmental subdivision of nervous system", - "absent anatomical entity in the forelimb", - "Nevus", - "abnormal manual digit morphology in the independent continuant", - "Growth delay", - "forelimb skeleton", - "abnormal anatomical entity morphology in the appendage girdle complex", - "anatomical collection", - "Abnormality of multiple cell lineages in the bone marrow", - "skeleton of pectoral complex", - "manual digitopodium region", - "anterior region of body", - "absent anatomical entity in the multicellular organism", - "forelimb long bone", - "abnormal manus morphology", - "obsolete cellular aromatic compound metabolic process", - "immaterial entity", - "immaterial anatomical entity", - "endochondral element", - "endochondral bone", - "negative regulation of cellular biosynthetic process", - "Abnormal bone structure", - "Abnormality of the mouth", - "arm", - "limb", - "lateral structure", - "secondary dentition", - "abnormal number of anatomical enitites of type anatomical entity", - "digit plus metapodial segment", - "Neoplasm by anatomical site", - "Abnormality of limb bone", - "abnormal axial skeleton plus cranial skeleton morphology", + "Abnormality of bone marrow cell morphology", + "hemolymphoid system", + "Abnormality of the immune system", + "abnormal hematopoietic system", + "abnormal renal system morphology", + "abnormal anatomical entity topology in independent continuant", "abnormal genitourinary system", - "axial skeletal system", - "abnormality of nervous system physiology", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/hypoplasia involving bones of the extremities", - "agenesis of anatomical entity", - "Aplasia/Hypoplasia affecting the eye", - "biological_process", - "subdivision of skeleton", - "protein-containing material entity", - "bone of appendage girdle complex", - "manual digit", - "abnormal nervous system morphology", - "abnormal cell", - "bone element", - "nervous system process", - "body proper", - "abnormal programmed DNA elimination by chromosome breakage", - "Abnormality of brain morphology", - "subdivision of skeletal system", - "sense organ", - "abnormal postcranial axial skeleton morphology", - "telencephalon", - "manual digit 1 plus metapodial segment", - "protein-DNA complex organization", - "organ", + "abnormally localised anatomical entity", + "Ectopic kidney", + "abnormal renal system", + "negative regulation of cellular metabolic process", + "abnormal bone marrow cell morphology", + "abdomen element", + "abnormal eyeball of camera-type eye", + "Abnormality of the kidney", + "abnormally localised anatomical entity in independent continuant", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "abdominal segment element", + "abdominal segment of trunk", + "abdomen", + "Abnormality of the upper urinary tract", + "abnormal bone marrow morphology", + "abnormal location of anatomical entity", + "abnormal erythrocyte morphology", + "Abnormal number of permanent teeth", + "abnormally localised kidney", + "abnormally decreased number of anatomical entity in the multicellular organism", + "Abnormality of the face", + "Agenesis of permanent teeth", + "abnormally decreased number of anatomical entity", + "anatomical cavity", + "abnormally decreased number of calcareous tooth", + "cellular component organization", + "abnormal number of anatomical enitites of type calcareous tooth", + "secondary dentition", + "abnormal mouth morphology", + "calcareous tooth", + "dentition", + "subdivision of tube", + "Abnormal oral morphology", + "Abnormality of multiple cell lineages in the bone marrow", + "Abnormality of the dentition", + "Abnormal number of teeth", + "myeloid cell", + "aplastic secondary dentition", + "abnormally decreased number of anatomical entity in the independent continuant", + "growth", + "subdivision of digestive tract", + "delayed biological_process", + "Growth delay", + "abnormal biological_process", "programmed DNA elimination by chromosome breakage", - "abnormal bone marrow morphology", - "organism subdivision", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormality of limb bone morphology", - "zeugopod", + "abnormal orbital region", + "Abnormal localization of kidney", + "face", + "Growth abnormality", + "delayed growth", + "abnormal size of anatomical entity", + "Decreased head circumference", + "cranial skeletal system", + "Abnormality of the genitourinary system", + "forebrain", + "abnormal forebrain morphology", + "Eukaryota", + "Eumetazoa", + "abnormal skull morphology", + "Abnormality of the mouth", + "abnormal size of skull", + "abnormal telencephalon morphology", + "dorsal region element", + "Abnormality of skull size", + "Abnormal oral cavity morphology", + "abnormal head morphology", + "tooth-like structure", + "Abnormality of head or neck", + "body proper", + "regional part of brain", + "aplasia or hypoplasia of telencephalon", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal craniocervical region morphology", + "kidney", + "regional part of nervous system", + "visual system", "abnormal anatomical entity morphology in the brain", - "organ system subdivision", - "process", + "Abnormal skull morphology", + "abnormal kidney morphology", "main body axis", - "cellular organisms", - "skin of body", - "Abnormal cellular physiology", - "abnormal biological_process", + "subdivision of organism along main body axis", "multi-tissue structure", - "abnormal forelimb morphology", - "aplasia or hypoplasia of telencephalon", - "abnormal brain morphology", - "abnormal limb bone", - "abnormality of anatomical entity physiology", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormally formed anatomical entity", - "abnormal central nervous system morphology", - "root", - "abnormal size of anatomical entity", - "skull", - "cognition", - "decreased size of the anatomical entity", - "negative regulation of metabolic process", - "abnormal camera-type eye morphology", - "abnormally localised anatomical entity in independent continuant", - "musculoskeletal system", - "delayed growth", - "abnormal cerebrospinal fluid morphology", - "organism", - "Abnormal skeletal morphology", - "limb endochondral element", - "anatomical entity", - "axial skeleton plus cranial skeleton", - "paired limb/fin skeleton", - "postcranial axial skeletal system", - "abnormal size of skull", "Abnormality of the musculoskeletal system", - "dysgenesis of the anatomical entity", - "Neurodevelopmental abnormality", - "Abnormal skull morphology", - "Abnormality of the eye", - "abnormal skull morphology", - "erythrocyte", - "abnormal limb bone morphology", + "cellular organisms", + "abnormal digit", + "bodily fluid", "aplasia or hypoplasia of anatomical entity", - "cellular metabolic process", - "abnormally increased number of anatomical entity", - "abnormal anatomical entity topology in independent continuant", + "Aplasia/hypoplasia involving the skeleton", + "anatomical entity", + "Aplasia/hypoplasia involving bones of the upper limbs", + "bone marrow cell", + "system", + "aplasia or hypoplasia of manual digit 1", + "Abnormality of limbs", + "regulation of cellular metabolic process", + "regulation of metabolic process", + "Abnormality of limb bone morphology", + "abnormal brain ventricle/choroid plexus morphology", + "brain", + "abnormal anatomical entity morphology in the independent continuant", "limb segment", - "abnormally localised kidney", - "Cerebellar malformation", - "postcranial axial skeleton", - "central nervous system", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal mouth", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "limb endochondral element", + "genitourinary system", + "forelimb skeleton", + "abnormal number of anatomical enitites of type anatomical entity", + "limb bone", + "Abnormal finger morphology", + "abnormally formed cerebellum", + "absent anatomical entity in the limb", + "Abnormality of the skeletal system", + "abnormal metencephalon morphology", + "Abnormal forearm bone morphology", + "abnormal digit morphology", + "Abnormal forebrain morphology", + "abnormal appendicular skeleton morphology", + "multi-limb segment region", + "endochondral element", + "digit", + "abnormal arm", + "absent anatomical entity in the forelimb", + "Tethered cord", + "excretory system", + "Abnormal curvature of the vertebral column", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "Abnormal cerebellum morphology", + "digit 1 plus metapodial segment", + "head", + "Abnormality of limb bone", + "Neurodevelopmental delay", + "pectoral appendage", "absent anatomical entity", - "Chromosome breakage", - "abnormal number of anatomical enitites of type calcareous tooth", + "brain ventricle", + "aplastic manual digit 1", + "abnormal growth", + "independent continuant", + "organic cyclic compound metabolic process", + "segment of autopod", + "postcranial axial skeletal system", + "paired limb/fin skeleton", + "Abnormal cerebrospinal fluid morphology", + "Abnormal thumb morphology", + "phenotype by ontology source", + "skeletal system", + "root", + "appendage", + "tube", + "abnormal manual digit 1 morphology", + "organ subunit", "Cognitive impairment", - "Metazoa", + "anatomical space", + "paired limb/fin", + "digestive system", + "upper limb segment", + "appendicular skeleton", + "abnormal anatomical entity morphology in the manus", + "manual digitopodium region", + "abnormal forelimb morphology", + "Aplasia/Hypoplasia affecting the eye", + "abnormal hematopoietic system morphology", + "abnormal dentition", + "Abnormal nervous system physiology", + "subdivision of trunk", + "absent manual digit", + "abnormal phenotype by ontology source", + "cerebrospinal fluid", + "Abnormal cell morphology", + "phenotype", + "nucleobase-containing compound metabolic process", + "abnormal hindbrain morphology", + "absent digit", + "Abnormality of the eye", + "abnormal upper urinary tract", + "mouth", + "musculoskeletal system", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "Abnormal eye morphology", + "manual digit", + "Abnormal morphology of the radius", + "Neurodevelopmental abnormality", + "subdivision of organism along appendicular axis", + "Abnormality of mental function", + "organic substance metabolic process", + "Abnormal cellular physiology", + "Pelvic kidney", + "abnormality of nervous system physiology", + "skeleton of manus", + "lateral structure", + "digestive tract", + "process", + "hematopoietic system", + "multicellular organism", + "absent anatomical entity in the multicellular organism", + "agenesis of anatomical entity", + "abnormal face", + "autopodial extension", + "Bone marrow hypocellularity", + "skeletal element", + "zeugopod", + "negative regulation of gene expression", + "Phenotypic abnormality", + "Abnormality of the hand", + "Abnormal appendicular skeleton morphology", + "Delayed ability to walk", + "material entity", + "abnormal cerebellum morphology", + "skeleton", + "nervous system process", + "abnormal number of anatomical enitites of type secondary dentition", + "system process", + "anatomical collection", + "All", + "Abnormal cerebral ventricle morphology", + "Abnormal upper limb bone morphology", + "Abnormal hindbrain morphology", + "renal system", + "nervous system", + "abnormal limb bone morphology", + "cellular process", + "Abnormal digit morphology", + "decreased size of the anatomical entity", + "cognition", + "ventricular system of brain", + "anatomical structure", + "abnormal manus", + "abnormally increased number of brain ventricle in the independent continuant", + "organism", + "autopod region", + "biological_process", + "Finger aplasia", + "entire sense organ system", + "continuant", + "manual digit 1 plus metapodial segment", + "obsolete cellular aromatic compound metabolic process", + "multicellular organismal process", + "abnormal skeletal system morphology", + "protein-containing material entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "organ part", + "forelimb endochondral element", + "multicellular anatomical structure", + "Scoliosis", + "forelimb zeugopod", + "abnormal nervous system", + "manual digit 1 or 5", + "Neoplasm", + "upper urinary tract", + "Anal atresia", + "digit plus metapodial segment", + "skeleton of limb", + "material anatomical entity", + "segmental subdivision of hindbrain", + "brain ventricle/choroid plexus", + "anatomical system", + "quality", + "abnormal manus morphology", "pectoral appendage skeleton", - "Abnormality of the kidney", - "anatomical cavity", - "ectoderm-derived structure", - "Aplasia/Hypoplasia of fingers", - "subdivision of tube", - "Opisthokonta", - "Abnormal long bone morphology", - "structure with developmental contribution from neural crest", - "dentition", - "Abnormal myeloid cell morphology", - "abnormally decreased number of anatomical entity in the multicellular organism", + "manual digit plus metapodial segment", + "abnormal limb long bone morphology", + "radius endochondral element", + "regulation of cellular biosynthetic process", + "biological regulation", + "Abnormality of globe size", + "Intellectual disability", + "abnormal digestive system morphology", + "bone marrow", + "acropodium region", "Aplasia/hypoplasia of the extremities", + "forelimb", + "Abnormal skeletal morphology", + "aplasia or hypoplasia of manual digit", + "digit 1", + "obsolete heterocycle metabolic process", + "erythroid lineage cell", + "Abnormal axial skeleton morphology", + "postcranial axial skeleton", + "bone of free limb or fin", + "abnormal autopod region morphology", + "Absent thumb", + "anterior region of body", + "aplastic anatomical entity", + "autopodial skeleton", + "bone element", + "sense organ", + "abnormal limb bone", + "Abnormal nervous system morphology", + "abnormal immune system morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "manual digit 1", + "Abnormality of metabolism/homeostasis", + "abnormal anus morphology", + "organism subdivision", "occurrent", - "abnormal skeletal system morphology", - "anatomical system", - "abnormal anatomical entity morphology", - "abnormal skeletal system", - "abnormal organelle organization", - "head", - "abnormal head morphology", - "forelimb bone", - "subdivision of organism along appendicular axis", + "organ", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "bone of pectoral complex", + "entity", + "subdivision of skeletal system", + "Delayed gross motor development", + "subdivision of skeleton", + "endochondral bone", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal head", + "arm", + "Abnormal myeloid cell morphology", + "digit 1 or 5", + "bone cell", + "Aplasia/Hypoplasia of the thumb", + "regulation of biosynthetic process", "absent anatomical entity in the independent continuant", - "craniocervical region", - "brain", - "abnormal hematopoietic cell morphology", + "Neoplasm by anatomical site", + "cell", + "limb", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "trunk region element", + "pectoral complex", + "eye", + "Opisthokonta", + "paired limb/fin segment", + "appendicular skeletal system", + "skeleton of pectoral complex", + "limb skeleton subdivision", + "abnormal forelimb zeugopod bone", + "abnormal manual digit morphology in the independent continuant", + "manus", + "abnormal limb", + "Abnormality of digestive system morphology", + "Microphthalmia", + "abnormal skeletal system", + "macromolecule metabolic process", + "appendage girdle complex", + "Localized skin lesion", + "immaterial entity", + "Abnormal hand morphology", "abnormal limb morphology", - "organ part", - "multicellular organism", - "abnormal arm", - "Anal atresia", - "Abnormal nervous system physiology", - "Finger aplasia", - "digitopodium region", - "Tooth agenesis", - "abnormal hematopoietic system", - "hematopoietic cell", - "Decreased head circumference", - "abnormal craniocervical region morphology", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the urinary system", - "Chiari malformation", - "anatomical structure", + "forelimb zeugopod skeleton", + "mesoderm-derived structure", + "cerebellum", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "abnormal closing of the anatomical entity", + "Hydrocephalus", + "malformed anatomical entity", "Morphological central nervous system abnormality", - "multicellular organismal process", - "abnormal long bone morphology", - "entity", + "cavitated compound organ", + "abnormal brain morphology", + "bone of appendage girdle complex", + "anatomical wall", + "organ component layer", + "organism substance", + "Microcephaly", + "abnormal forelimb zeugopod morphology", + "central nervous system", + "ventricular system of central nervous system", + "abnormal anus", + "Chiari malformation", + "anatomical conduit", "Abnormality of the head", - "Abnormality of mental function", - "abdominal segment element", - "absent digit", - "genitourinary system", - "material anatomical entity", - "appendage", - "aplasia or hypoplasia of skeleton", - "independent continuant", - "upper limb segment", - "cranial skeletal system", - "abnormal nervous system", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal renal system", - "Abnormal upper limb bone morphology", - "skeletal element", - "abnormal digit", - "abnormal closing of the anatomical entity", - "material entity", - "organ subunit", + "abnormally increased number of anatomical entity", + "Abnormality of the urinary system", + "transudate", + "forelimb bone", + "skull", + "abnormal cerebrospinal fluid morphology", + "abnormal brain ventricle morphology", + "abnormally formed anatomical entity in independent continuant", + "oral cavity", + "dysgenesis of the radius bone", + "Abnormality of chromosome stability", + "abnormal kidney", + "abnormal central nervous system morphology", + "craniocervical region", + "abnormal long bone morphology", + "abnormal cell morphology", + "abnormal nervous system morphology", + "Tooth agenesis", "Abnormal cerebral morphology", - "Ectopic kidney", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "arm bone", + "ventricle of nervous system", + "axial skeletal system", + "Radial dysplasia", + "Abnormal long bone morphology", + "abnormal radius bone morphology", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "long bone", + "abnormal DNA metabolic process", + "blood cell", "abnormal manual digit morphology in the manus", - "abnormal phenotype by ontology source", + "radius bone", + "forelimb long bone", + "obsolete cell", + "compound organ", + "zeugopodial skeleton", + "limb long bone", + "dysgenesis of the anatomical entity", + "subdivision of head", + "Abnormality of brain morphology", + "forelimb zeugopod bone", + "metencephalon", + "abnormal digestive system", + "abnormal anatomical entity", + "Abnormal forearm morphology", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "trunk", + "Abnormality of the vertebral column", + "tissue", + "abnormal axial skeleton plus cranial skeleton morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal oral cavity morphology", + "telencephalon", + "vertebral column", + "Abnormal bone structure", + "abnormal vertebral column", + "erythrocyte", + "organ system subdivision", + "Abnormality of the anus", + "regulation of macromolecule metabolic process", + "Abnormality of the digestive system", + "anus", + "protein-DNA complex organization", + "Abnormal anus morphology", + "DNA metabolic process", + "orifice", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "immaterial anatomical entity", + "anus atresia", + "sensory system", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Aplasia/Hypoplasia of the cerebrum", + "Chiari type I malformation", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "Metazoa", ], }, ], diff --git a/backend/tests/fixtures/histopheno.py b/backend/tests/fixtures/histopheno.py index 5ef1833bb..2d843a908 100644 --- a/backend/tests/fixtures/histopheno.py +++ b/backend/tests/fixtures/histopheno.py @@ -6,15 +6,15 @@ def histopheno(): return { "id": "MONDO:0020121", "items": [ - {"label": "musculature", "count": 1709, "id": "UPHENO:0002816"}, - {"label": "nervous_system", "count": 1088, "id": "UPHENO:0004523"}, + {"label": "musculature", "count": 1723, "id": "UPHENO:0002816"}, + {"label": "nervous_system", "count": 1089, "id": "UPHENO:0004523"}, {"label": "head_neck", "count": 584, "id": "UPHENO:0002764"}, - {"label": "skeletal_system", "count": 472, "id": "UPHENO:0002964"}, + {"label": "skeletal_system", "count": 479, "id": "UPHENO:0002964"}, {"label": "eye", "count": 291, "id": "UPHENO:0003020"}, - {"label": "metabolism_homeostasis", "count": 222, "id": "HP:0001939"}, + {"label": "metabolism_homeostasis", "count": 223, "id": "HP:0001939"}, {"label": "cardiovascular_system", "count": 181, "id": "UPHENO:0080362"}, - {"label": "blood", "count": 179, "id": "UPHENO:0004459"}, - {"label": "connective_tissue", "count": 162, "id": "UPHENO:0002712"}, + {"label": "blood", "count": 180, "id": "UPHENO:0004459"}, + {"label": "connective_tissue", "count": 166, "id": "UPHENO:0002712"}, {"label": "respiratory", "count": 155, "id": "UPHENO:0004536"}, {"label": "neoplasm", "count": 153, "id": "HP:0002664"}, {"label": "digestive_system", "count": 147, "id": "UPHENO:0002833"}, diff --git a/backend/tests/fixtures/histopheno_response.py b/backend/tests/fixtures/histopheno_response.py index 4e7d0f732..bdf326310 100644 --- a/backend/tests/fixtures/histopheno_response.py +++ b/backend/tests/fixtures/histopheno_response.py @@ -5,7 +5,7 @@ def histopheno_response(): return { "responseHeader": { - "QTime": 1, + "QTime": 5, "params": { "facet.query": [ 'object_closure:"UPHENO:0002964"', @@ -40,27 +40,27 @@ def histopheno_response(): "facet": "true", }, }, - "response": {"num_found": 4426, "start": 0, "docs": []}, + "response": {"num_found": 4446, "start": 0, "docs": []}, "facet_counts": { "facet_fields": {}, "facet_queries": { - 'object_closure:"UPHENO:0002964"': 472, - 'object_closure:"UPHENO:0004523"': 1088, + 'object_closure:"UPHENO:0002964"': 479, + 'object_closure:"UPHENO:0004523"': 1089, 'object_closure:"UPHENO:0002764"': 584, 'object_closure:"UPHENO:0002635"': 47, 'object_closure:"UPHENO:0003020"': 291, 'object_closure:"UPHENO:0080362"': 181, - 'object_closure:"HP:0001939"': 222, + 'object_closure:"HP:0001939"': 223, 'object_closure:"UPHENO:0002642"': 44, 'object_closure:"UPHENO:0002833"': 147, 'object_closure:"HP:0002664"': 153, - 'object_closure:"UPHENO:0004459"': 179, + 'object_closure:"UPHENO:0004459"': 180, 'object_closure:"UPHENO:0002948"': 22, 'object_closure:"UPHENO:0003116"': 25, - 'object_closure:"UPHENO:0002816"': 1709, + 'object_closure:"UPHENO:0002816"': 1723, 'object_closure:"UPHENO:0004536"': 155, 'object_closure:"HP:0000598"': 28, - 'object_closure:"UPHENO:0002712"': 162, + 'object_closure:"UPHENO:0002712"': 166, 'object_closure:"UPHENO:0075949"': 21, 'object_closure:"UPHENO:0049874"': 32, 'object_closure:"UPHENO:0003013"': 1, diff --git a/backend/tests/fixtures/mapping_response.py b/backend/tests/fixtures/mapping_response.py index 446d260e7..ca08a57e7 100644 --- a/backend/tests/fixtures/mapping_response.py +++ b/backend/tests/fixtures/mapping_response.py @@ -5,7 +5,7 @@ def mapping_response(): return { "responseHeader": { - "QTime": 0, + "QTime": 1, "params": { "mm": "100%", "q": "*:*", @@ -19,7 +19,7 @@ def mapping_response(): }, }, "response": { - "num_found": 7, + "num_found": 14, "start": 0, "docs": [ { @@ -29,7 +29,7 @@ def mapping_response(): "object_id": "DOID:9884", "object_label": "muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "35dd4712-cbd1-48ca-9ea8-76fc64fd64c6", + "id": "e118a569-aef9-4406-a56e-26c0cce23832", }, { "subject_id": "MONDO:0020121", @@ -38,7 +38,7 @@ def mapping_response(): "object_id": "ICD10CM:G71.0", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "6993b2bc-dcb1-46a9-a1e7-a7f13538f348", + "id": "c019bafb-05f0-4e88-a872-213dc1cbadf8", }, { "subject_id": "MONDO:0020121", @@ -47,7 +47,7 @@ def mapping_response(): "object_id": "NCIT:C84910", "object_label": "Muscular Dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "c316e0c5-432c-4d78-aaee-9e021759557f", + "id": "409672f9-0244-46db-b53e-5a941daecf79", }, { "subject_id": "MONDO:0020121", @@ -56,7 +56,7 @@ def mapping_response(): "object_id": "Orphanet:98473", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "83793e01-bce0-4bdf-a124-addbef4ba50a", + "id": "e03a2881-54f2-484a-927b-c90557ddf4fa", }, { "subject_id": "MONDO:0020121", @@ -64,7 +64,7 @@ def mapping_response(): "predicate_id": "skos:exactMatch", "object_id": "SCTID:73297009", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "b56db466-9225-4e9c-97ab-8937bc6e29be", + "id": "25ff5a19-ae6b-4d3d-a57e-f8087f435cb7", }, { "subject_id": "MONDO:0020121", @@ -72,7 +72,7 @@ def mapping_response(): "predicate_id": "skos:exactMatch", "object_id": "UMLS:C0026850", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "f41a4f1a-9898-4452-bbd9-39e028189279", + "id": "9edb04c4-fcd6-4b0d-a2ea-b2812c3ae7d3", }, { "subject_id": "MONDO:0020121", @@ -80,7 +80,67 @@ def mapping_response(): "predicate_id": "skos:exactMatch", "object_id": "MESH:D009136", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "3dea3a7b-16c5-467a-8976-808f74fce04d", + "id": "ca9265de-6da9-46b2-9d90-18b7fc56d874", + }, + { + "subject_id": "MONDO:0020121", + "subject_label": "muscular dystrophy", + "predicate_id": "skos:exactMatch", + "object_id": "DOID:9884", + "object_label": "muscular dystrophy", + "mapping_justification": "semapv:UnspecifiedMatching", + "id": "5d822e16-51fe-4ab9-a15d-2319b883d96e", + }, + { + "subject_id": "MONDO:0020121", + "subject_label": "muscular dystrophy", + "predicate_id": "skos:exactMatch", + "object_id": "ICD10CM:G71.0", + "object_label": "Muscular dystrophy", + "mapping_justification": "semapv:UnspecifiedMatching", + "id": "9ed03b0f-bf8d-41be-b21e-5cd47203dc8a", + }, + { + "subject_id": "MONDO:0020121", + "subject_label": "muscular dystrophy", + "predicate_id": "skos:exactMatch", + "object_id": "NCIT:C84910", + "object_label": "Muscular Dystrophy", + "mapping_justification": "semapv:UnspecifiedMatching", + "id": "c94c80d9-67cb-4c8c-9855-445c493e6b09", + }, + { + "subject_id": "MONDO:0020121", + "subject_label": "muscular dystrophy", + "predicate_id": "skos:exactMatch", + "object_id": "Orphanet:98473", + "object_label": "Muscular dystrophy", + "mapping_justification": "semapv:UnspecifiedMatching", + "id": "493dfdf8-e149-4287-9522-1f123af2428b", + }, + { + "subject_id": "MONDO:0020121", + "subject_label": "muscular dystrophy", + "predicate_id": "skos:exactMatch", + "object_id": "SCTID:73297009", + "mapping_justification": "semapv:UnspecifiedMatching", + "id": "223f9ee1-c176-4355-bc8f-22cec80116ea", + }, + { + "subject_id": "MONDO:0020121", + "subject_label": "muscular dystrophy", + "predicate_id": "skos:exactMatch", + "object_id": "UMLS:C0026850", + "mapping_justification": "semapv:UnspecifiedMatching", + "id": "d7d48a1f-1325-45d7-b9af-35f74f4e796f", + }, + { + "subject_id": "MONDO:0020121", + "subject_label": "muscular dystrophy", + "predicate_id": "skos:exactMatch", + "object_id": "MESH:D009136", + "mapping_justification": "semapv:UnspecifiedMatching", + "id": "e10a82df-8a83-4ca4-8591-8c00c556c228", }, ], }, diff --git a/backend/tests/fixtures/mappings.py b/backend/tests/fixtures/mappings.py index 0cf1b3e56..4f0718765 100644 --- a/backend/tests/fixtures/mappings.py +++ b/backend/tests/fixtures/mappings.py @@ -6,7 +6,7 @@ def mappings(): return { "limit": 20, "offset": 0, - "total": 7, + "total": 14, "items": [ { "subject_id": "MONDO:0020121", @@ -15,7 +15,7 @@ def mappings(): "object_id": "DOID:9884", "object_label": "muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "35dd4712-cbd1-48ca-9ea8-76fc64fd64c6", + "id": "e118a569-aef9-4406-a56e-26c0cce23832", }, { "subject_id": "MONDO:0020121", @@ -24,7 +24,7 @@ def mappings(): "object_id": "ICD10CM:G71.0", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "6993b2bc-dcb1-46a9-a1e7-a7f13538f348", + "id": "c019bafb-05f0-4e88-a872-213dc1cbadf8", }, { "subject_id": "MONDO:0020121", @@ -33,7 +33,7 @@ def mappings(): "object_id": "NCIT:C84910", "object_label": "Muscular Dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "c316e0c5-432c-4d78-aaee-9e021759557f", + "id": "409672f9-0244-46db-b53e-5a941daecf79", }, { "subject_id": "MONDO:0020121", @@ -42,7 +42,7 @@ def mappings(): "object_id": "Orphanet:98473", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "83793e01-bce0-4bdf-a124-addbef4ba50a", + "id": "e03a2881-54f2-484a-927b-c90557ddf4fa", }, { "subject_id": "MONDO:0020121", @@ -51,7 +51,7 @@ def mappings(): "object_id": "SCTID:73297009", "object_label": None, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "b56db466-9225-4e9c-97ab-8937bc6e29be", + "id": "25ff5a19-ae6b-4d3d-a57e-f8087f435cb7", }, { "subject_id": "MONDO:0020121", @@ -60,7 +60,7 @@ def mappings(): "object_id": "UMLS:C0026850", "object_label": None, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "f41a4f1a-9898-4452-bbd9-39e028189279", + "id": "9edb04c4-fcd6-4b0d-a2ea-b2812c3ae7d3", }, { "subject_id": "MONDO:0020121", @@ -69,7 +69,70 @@ def mappings(): "object_id": "MESH:D009136", "object_label": None, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "3dea3a7b-16c5-467a-8976-808f74fce04d", + "id": "ca9265de-6da9-46b2-9d90-18b7fc56d874", + }, + { + "subject_id": "MONDO:0020121", + "subject_label": "muscular dystrophy", + "predicate_id": "skos:exactMatch", + "object_id": "DOID:9884", + "object_label": "muscular dystrophy", + "mapping_justification": "semapv:UnspecifiedMatching", + "id": "5d822e16-51fe-4ab9-a15d-2319b883d96e", + }, + { + "subject_id": "MONDO:0020121", + "subject_label": "muscular dystrophy", + "predicate_id": "skos:exactMatch", + "object_id": "ICD10CM:G71.0", + "object_label": "Muscular dystrophy", + "mapping_justification": "semapv:UnspecifiedMatching", + "id": "9ed03b0f-bf8d-41be-b21e-5cd47203dc8a", + }, + { + "subject_id": "MONDO:0020121", + "subject_label": "muscular dystrophy", + "predicate_id": "skos:exactMatch", + "object_id": "NCIT:C84910", + "object_label": "Muscular Dystrophy", + "mapping_justification": "semapv:UnspecifiedMatching", + "id": "c94c80d9-67cb-4c8c-9855-445c493e6b09", + }, + { + "subject_id": "MONDO:0020121", + "subject_label": "muscular dystrophy", + "predicate_id": "skos:exactMatch", + "object_id": "Orphanet:98473", + "object_label": "Muscular dystrophy", + "mapping_justification": "semapv:UnspecifiedMatching", + "id": "493dfdf8-e149-4287-9522-1f123af2428b", + }, + { + "subject_id": "MONDO:0020121", + "subject_label": "muscular dystrophy", + "predicate_id": "skos:exactMatch", + "object_id": "SCTID:73297009", + "object_label": None, + "mapping_justification": "semapv:UnspecifiedMatching", + "id": "223f9ee1-c176-4355-bc8f-22cec80116ea", + }, + { + "subject_id": "MONDO:0020121", + "subject_label": "muscular dystrophy", + "predicate_id": "skos:exactMatch", + "object_id": "UMLS:C0026850", + "object_label": None, + "mapping_justification": "semapv:UnspecifiedMatching", + "id": "d7d48a1f-1325-45d7-b9af-35f74f4e796f", + }, + { + "subject_id": "MONDO:0020121", + "subject_label": "muscular dystrophy", + "predicate_id": "skos:exactMatch", + "object_id": "MESH:D009136", + "object_label": None, + "mapping_justification": "semapv:UnspecifiedMatching", + "id": "e10a82df-8a83-4ca4-8591-8c00c556c228", }, ], } diff --git a/backend/tests/fixtures/node.py b/backend/tests/fixtures/node.py index 062cee1d8..ce9e0e1db 100644 --- a/backend/tests/fixtures/node.py +++ b/backend/tests/fixtures/node.py @@ -49,6 +49,13 @@ def node(): {"id": "SCTID:73297009", "url": "http://identifiers.org/snomedct/73297009"}, {"id": "UMLS:C0026850", "url": "http://identifiers.org/umls/C0026850"}, {"id": "MESH:D009136", "url": "http://identifiers.org/mesh/D009136"}, + {"id": "DOID:9884", "url": "http://purl.obolibrary.org/obo/DOID_9884"}, + {"id": "ICD10CM:G71.0", "url": "https://icd.codes/icd10cm/G71.0"}, + {"id": "NCIT:C84910", "url": "http://purl.obolibrary.org/obo/NCIT_C84910"}, + {"id": "Orphanet:98473", "url": "https://www.orpha.net/en/disease/detail/98473"}, + {"id": "SCTID:73297009", "url": "http://identifiers.org/snomedct/73297009"}, + {"id": "UMLS:C0026850", "url": "http://identifiers.org/umls/C0026850"}, + {"id": "MESH:D009136", "url": "http://identifiers.org/mesh/D009136"}, ], "external_links": [ {"id": "DOID:9884", "url": "http://purl.obolibrary.org/obo/DOID_9884"}, @@ -72,38 +79,14 @@ def node(): "association_counts": [ { "label": "Phenotype to Disease", - "count": 3941, + "count": 3959, "category": "biolink:DiseaseToPhenotypicFeatureAssociation", }, {"label": "Causal Gene", "count": 126, "category": "biolink:CausalGeneToDiseaseAssociation"}, {"label": "Correlated Gene", "count": 146, "category": "biolink:CorrelatedGeneToDiseaseAssociation"}, - {"label": "Variant to Disease", "count": 1, "category": "biolink:VariantToDiseaseAssociation"}, - {"label": "Disease Model", "count": 243, "category": "biolink:GenotypeToDiseaseAssociation"}, ], "node_hierarchy": { "super_classes": [ - { - "id": "MONDO:0005336", - "category": "biolink:Disease", - "name": "myopathy", - "full_name": None, - "deprecated": None, - "description": None, - "xref": [], - "provided_by": None, - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": [], - "uri": None, - "iri": None, - "namespace": None, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": None, - }, { "id": "MONDO:0100546", "category": "biolink:Disease", @@ -148,12 +131,10 @@ def node(): "has_phenotype_closure_label": [], "has_phenotype_count": None, }, - ], - "sub_classes": [ { - "id": "MONDO:0008028", + "id": "MONDO:0005336", "category": "biolink:Disease", - "name": "muscular dystrophy, Barnes type", + "name": "myopathy", "full_name": None, "deprecated": None, "description": None, @@ -172,6 +153,8 @@ def node(): "has_phenotype_closure_label": [], "has_phenotype_count": None, }, + ], + "sub_classes": [ { "id": "MONDO:0010311", "category": "biolink:Disease", @@ -414,6 +397,28 @@ def node(): "has_phenotype_closure_label": [], "has_phenotype_count": None, }, + { + "id": "MONDO:0008028", + "category": "biolink:Disease", + "name": "muscular dystrophy, Barnes type", + "full_name": None, + "deprecated": None, + "description": None, + "xref": [], + "provided_by": None, + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": [], + "uri": None, + "iri": None, + "namespace": None, + "has_phenotype": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": None, + }, ], }, } diff --git a/backend/tests/fixtures/object_formatted.py b/backend/tests/fixtures/object_formatted.py index b2f6e09e6..7463b141c 100644 --- a/backend/tests/fixtures/object_formatted.py +++ b/backend/tests/fixtures/object_formatted.py @@ -43,6 +43,34 @@ def node_json(): "causal_gene": [], "causes_disease": [], "mappings": [ + { + "id": "DOID:9884", + "url": "http://purl.obolibrary.org/obo/DOID_9884" + }, + { + "id": "ICD10CM:G71.0", + "url": "https://icd.codes/icd10cm/G71.0" + }, + { + "id": "NCIT:C84910", + "url": "http://purl.obolibrary.org/obo/NCIT_C84910" + }, + { + "id": "Orphanet:98473", + "url": "https://www.orpha.net/en/disease/detail/98473" + }, + { + "id": "SCTID:73297009", + "url": "http://identifiers.org/snomedct/73297009" + }, + { + "id": "UMLS:C0026850", + "url": "http://identifiers.org/umls/C0026850" + }, + { + "id": "MESH:D009136", + "url": "http://identifiers.org/mesh/D009136" + }, { "id": "DOID:9884", "url": "http://purl.obolibrary.org/obo/DOID_9884" @@ -133,7 +161,7 @@ def node_json(): "association_counts": [ { "label": "Phenotype to Disease", - "count": 3941, + "count": 3959, "category": "biolink:DiseaseToPhenotypicFeatureAssociation" }, { @@ -145,42 +173,10 @@ def node_json(): "label": "Correlated Gene", "count": 146, "category": "biolink:CorrelatedGeneToDiseaseAssociation" - }, - { - "label": "Variant to Disease", - "count": 1, - "category": "biolink:VariantToDiseaseAssociation" - }, - { - "label": "Disease Model", - "count": 243, - "category": "biolink:GenotypeToDiseaseAssociation" } ], "node_hierarchy": { "super_classes": [ - { - "id": "MONDO:0005336", - "category": "biolink:Disease", - "name": "myopathy", - "full_name": null, - "deprecated": null, - "description": null, - "xref": [], - "provided_by": null, - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": [], - "uri": null, - "iri": null, - "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": null - }, { "id": "MONDO:0100546", "category": "biolink:Disease", @@ -224,13 +220,11 @@ def node_json(): "has_phenotype_closure": [], "has_phenotype_closure_label": [], "has_phenotype_count": null - } - ], - "sub_classes": [ + }, { - "id": "MONDO:0008028", + "id": "MONDO:0005336", "category": "biolink:Disease", - "name": "muscular dystrophy, Barnes type", + "name": "myopathy", "full_name": null, "deprecated": null, "description": null, @@ -248,7 +242,9 @@ def node_json(): "has_phenotype_closure": [], "has_phenotype_closure_label": [], "has_phenotype_count": null - }, + } + ], + "sub_classes": [ { "id": "MONDO:0010311", "category": "biolink:Disease", @@ -490,6 +486,28 @@ def node_json(): "has_phenotype_closure": [], "has_phenotype_closure_label": [], "has_phenotype_count": null + }, + { + "id": "MONDO:0008028", + "category": "biolink:Disease", + "name": "muscular dystrophy, Barnes type", + "full_name": null, + "deprecated": null, + "description": null, + "xref": [], + "provided_by": null, + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [], + "uri": null, + "iri": null, + "namespace": null, + "has_phenotype": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": null } ] } @@ -501,7 +519,7 @@ def node_json(): def node_tsv(): return """ id category name full_name deprecated description xref provided_by in_taxon in_taxon_label symbol synonym uri iri namespace has_phenotype has_phenotype_label has_phenotype_closure has_phenotype_closure_label has_phenotype_count inheritance causal_gene causes_disease mappings external_links provided_by_link association_counts node_hierarchy -MONDO:0020121 biolink:Disease muscular dystrophy None None Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities. ['DOID:9884', 'GARD:7922', 'ICD10CM:G71.0', 'ICD9:359.1', 'MESH:D009136', 'MedDRA:10028356', 'NANDO:1200486', 'NANDO:2100233', 'NCIT:C84910', 'Orphanet:98473', 'SCTID:73297009', 'UMLS:C0026850', 'icd11.foundation:1464662404'] phenio_nodes None None None [] http://purl.obolibrary.org/obo/MONDO_0020121 None MONDO [] [] [] [] 0 None [] [] [{'id': 'DOID:9884', 'url': 'http://purl.obolibrary.org/obo/DOID_9884'}, {'id': 'ICD10CM:G71.0', 'url': 'https://icd.codes/icd10cm/G71.0'}, {'id': 'NCIT:C84910', 'url': 'http://purl.obolibrary.org/obo/NCIT_C84910'}, {'id': 'Orphanet:98473', 'url': 'https://www.orpha.net/en/disease/detail/98473'}, {'id': 'SCTID:73297009', 'url': 'http://identifiers.org/snomedct/73297009'}, {'id': 'UMLS:C0026850', 'url': 'http://identifiers.org/umls/C0026850'}, {'id': 'MESH:D009136', 'url': 'http://identifiers.org/mesh/D009136'}] [{'id': 'DOID:9884', 'url': 'http://purl.obolibrary.org/obo/DOID_9884'}, {'id': 'GARD:7922', 'url': 'https://rarediseases.info.nih.gov/diseases/7922/index'}, {'id': 'ICD10CM:G71.0', 'url': 'https://icd.codes/icd10cm/G71.0'}, {'id': 'ICD9:359.1', 'url': None}, {'id': 'MESH:D009136', 'url': 'http://identifiers.org/mesh/D009136'}, {'id': 'MedDRA:10028356', 'url': None}, {'id': 'NANDO:1200486', 'url': 'http://identifiers.org/NANDO/1200486'}, {'id': 'NANDO:2100233', 'url': 'http://identifiers.org/NANDO/2100233'}, {'id': 'NCIT:C84910', 'url': 'http://purl.obolibrary.org/obo/NCIT_C84910'}, {'id': 'Orphanet:98473', 'url': 'https://www.orpha.net/en/disease/detail/98473'}, {'id': 'SCTID:73297009', 'url': 'http://identifiers.org/snomedct/73297009'}, {'id': 'UMLS:C0026850', 'url': 'http://identifiers.org/umls/C0026850'}, {'id': 'icd11.foundation:1464662404', 'url': None}] {'id': 'phenio', 'url': 'https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#'} [{'label': 'Phenotype to Disease', 'count': 3941, 'category': 'biolink:DiseaseToPhenotypicFeatureAssociation'}, {'label': 'Causal Gene', 'count': 126, 'category': 'biolink:CausalGeneToDiseaseAssociation'}, {'label': 'Correlated Gene', 'count': 146, 'category': 'biolink:CorrelatedGeneToDiseaseAssociation'}, {'label': 'Variant to Disease', 'count': 1, 'category': 'biolink:VariantToDiseaseAssociation'}, {'label': 'Disease Model', 'count': 243, 'category': 'biolink:GenotypeToDiseaseAssociation'}] {'super_classes': [{'id': 'MONDO:0005336', 'category': 'biolink:Disease', 'name': 'myopathy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0100546', 'category': 'biolink:Disease', 'name': 'hereditary neuromuscular disease', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': 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[], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010311', 'category': 'biolink:Disease', 'name': 'Becker muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010675', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, cardiac type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010676', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Hemizygous lethal type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010677', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Mabry type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010678', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, progressive Pectorodorsal', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010679', 'category': 'biolink:Disease', 'name': 'Duchenne muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0016106', 'category': 'biolink:Disease', 'name': 'progressive muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0018949', 'category': 'biolink:Disease', 'name': 'distal myopathy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0019950', 'category': 'biolink:Disease', 'name': 'congenital muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0023204', 'category': 'biolink:Disease', 'name': 'Fukuda-Miyanomae-Nakata syndrome', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0100228', 'category': 'biolink:Disease', 'name': 'LAMA2-related muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}]} +MONDO:0020121 biolink:Disease muscular dystrophy None None Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities. ['DOID:9884', 'GARD:7922', 'ICD10CM:G71.0', 'ICD9:359.1', 'MESH:D009136', 'MedDRA:10028356', 'NANDO:1200486', 'NANDO:2100233', 'NCIT:C84910', 'Orphanet:98473', 'SCTID:73297009', 'UMLS:C0026850', 'icd11.foundation:1464662404'] phenio_nodes None None None [] http://purl.obolibrary.org/obo/MONDO_0020121 None MONDO [] [] [] [] 0 None [] [] [{'id': 'DOID:9884', 'url': 'http://purl.obolibrary.org/obo/DOID_9884'}, {'id': 'ICD10CM:G71.0', 'url': 'https://icd.codes/icd10cm/G71.0'}, {'id': 'NCIT:C84910', 'url': 'http://purl.obolibrary.org/obo/NCIT_C84910'}, {'id': 'Orphanet:98473', 'url': 'https://www.orpha.net/en/disease/detail/98473'}, {'id': 'SCTID:73297009', 'url': 'http://identifiers.org/snomedct/73297009'}, {'id': 'UMLS:C0026850', 'url': 'http://identifiers.org/umls/C0026850'}, {'id': 'MESH:D009136', 'url': 'http://identifiers.org/mesh/D009136'}, {'id': 'DOID:9884', 'url': 'http://purl.obolibrary.org/obo/DOID_9884'}, {'id': 'ICD10CM:G71.0', 'url': 'https://icd.codes/icd10cm/G71.0'}, {'id': 'NCIT:C84910', 'url': 'http://purl.obolibrary.org/obo/NCIT_C84910'}, {'id': 'Orphanet:98473', 'url': 'https://www.orpha.net/en/disease/detail/98473'}, {'id': 'SCTID:73297009', 'url': 'http://identifiers.org/snomedct/73297009'}, {'id': 'UMLS:C0026850', 'url': 'http://identifiers.org/umls/C0026850'}, {'id': 'MESH:D009136', 'url': 'http://identifiers.org/mesh/D009136'}] [{'id': 'DOID:9884', 'url': 'http://purl.obolibrary.org/obo/DOID_9884'}, {'id': 'GARD:7922', 'url': 'https://rarediseases.info.nih.gov/diseases/7922/index'}, {'id': 'ICD10CM:G71.0', 'url': 'https://icd.codes/icd10cm/G71.0'}, {'id': 'ICD9:359.1', 'url': None}, {'id': 'MESH:D009136', 'url': 'http://identifiers.org/mesh/D009136'}, {'id': 'MedDRA:10028356', 'url': None}, {'id': 'NANDO:1200486', 'url': 'http://identifiers.org/NANDO/1200486'}, {'id': 'NANDO:2100233', 'url': 'http://identifiers.org/NANDO/2100233'}, {'id': 'NCIT:C84910', 'url': 'http://purl.obolibrary.org/obo/NCIT_C84910'}, {'id': 'Orphanet:98473', 'url': 'https://www.orpha.net/en/disease/detail/98473'}, {'id': 'SCTID:73297009', 'url': 'http://identifiers.org/snomedct/73297009'}, {'id': 'UMLS:C0026850', 'url': 'http://identifiers.org/umls/C0026850'}, {'id': 'icd11.foundation:1464662404', 'url': None}] {'id': 'phenio', 'url': 'https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#'} [{'label': 'Phenotype to Disease', 'count': 3959, 'category': 'biolink:DiseaseToPhenotypicFeatureAssociation'}, {'label': 'Causal Gene', 'count': 126, 'category': 'biolink:CausalGeneToDiseaseAssociation'}, {'label': 'Correlated Gene', 'count': 146, 'category': 'biolink:CorrelatedGeneToDiseaseAssociation'}] {'super_classes': [{'id': 'MONDO:0100546', 'category': 'biolink:Disease', 'name': 'hereditary neuromuscular disease', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0700223', 'category': 'biolink:Disease', 'name': 'hereditary skeletal muscle disorder', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0005336', 'category': 'biolink:Disease', 'name': 'myopathy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}], 'sub_classes': [{'id': 'MONDO:0010311', 'category': 'biolink:Disease', 'name': 'Becker muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010675', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, cardiac type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010676', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Hemizygous lethal type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010677', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Mabry type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010678', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, progressive Pectorodorsal', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010679', 'category': 'biolink:Disease', 'name': 'Duchenne muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0016106', 'category': 'biolink:Disease', 'name': 'progressive muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0018949', 'category': 'biolink:Disease', 'name': 'distal myopathy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0019950', 'category': 'biolink:Disease', 'name': 'congenital muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0023204', 'category': 'biolink:Disease', 'name': 'Fukuda-Miyanomae-Nakata syndrome', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0100228', 'category': 'biolink:Disease', 'name': 'LAMA2-related muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0008028', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Barnes type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}]} """ @@ -510,7 +528,7 @@ def node_yaml(): return """ association_counts: - category: biolink:DiseaseToPhenotypicFeatureAssociation - count: 3941 + count: 3959 label: Phenotype to Disease - category: biolink:CausalGeneToDiseaseAssociation count: 126 @@ -518,12 +536,6 @@ def node_yaml(): - category: biolink:CorrelatedGeneToDiseaseAssociation count: 146 label: Correlated Gene -- category: biolink:VariantToDiseaseAssociation - count: 1 - label: Variant to Disease -- category: biolink:GenotypeToDiseaseAssociation - count: 243 - label: Disease Model category: biolink:Disease causal_gene: [] causes_disease: [] @@ -580,6 +592,20 @@ def node_yaml(): inheritance: null iri: null mappings: +- id: DOID:9884 + url: http://purl.obolibrary.org/obo/DOID_9884 +- id: ICD10CM:G71.0 + url: https://icd.codes/icd10cm/G71.0 +- id: NCIT:C84910 + url: http://purl.obolibrary.org/obo/NCIT_C84910 +- id: Orphanet:98473 + url: https://www.orpha.net/en/disease/detail/98473 +- id: SCTID:73297009 + url: http://identifiers.org/snomedct/73297009 +- id: UMLS:C0026850 + url: http://identifiers.org/umls/C0026850 +- id: MESH:D009136 + url: http://identifiers.org/mesh/D009136 - id: DOID:9884 url: http://purl.obolibrary.org/obo/DOID_9884 - id: ICD10CM:G71.0 @@ -598,26 +624,6 @@ def node_yaml(): namespace: MONDO node_hierarchy: sub_classes: - - category: biolink:Disease - deprecated: null - description: null - full_name: null - has_phenotype: [] - has_phenotype_closure: [] - has_phenotype_closure_label: [] - has_phenotype_count: null - has_phenotype_label: [] - id: MONDO:0008028 - in_taxon: null - in_taxon_label: null - iri: null - name: muscular dystrophy, Barnes type - namespace: null - provided_by: null - symbol: null - synonym: [] - uri: null - xref: [] - category: biolink:Disease deprecated: null description: null @@ -838,7 +844,6 @@ def node_yaml(): synonym: [] uri: null xref: [] - super_classes: - category: biolink:Disease deprecated: null description: null @@ -848,17 +853,18 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0005336 + id: MONDO:0008028 in_taxon: null in_taxon_label: null iri: null - name: myopathy + name: muscular dystrophy, Barnes type namespace: null provided_by: null symbol: null synonym: [] uri: null xref: [] + super_classes: - category: biolink:Disease deprecated: null description: null @@ -899,6 +905,26 @@ def node_yaml(): synonym: [] uri: null xref: [] + - category: biolink:Disease + deprecated: null + description: null + full_name: null + has_phenotype: [] + has_phenotype_closure: [] + has_phenotype_closure_label: [] + has_phenotype_count: null + has_phenotype_label: [] + id: MONDO:0005336 + in_taxon: null + in_taxon_label: null + iri: null + name: myopathy + namespace: null + provided_by: null + symbol: null + synonym: [] + uri: null + xref: [] provided_by: phenio_nodes provided_by_link: id: phenio diff --git a/backend/tests/fixtures/search.py b/backend/tests/fixtures/search.py index d25ad2ce4..d385a3d4c 100644 --- a/backend/tests/fixtures/search.py +++ b/backend/tests/fixtures/search.py @@ -6,7 +6,7 @@ def search(): return { "limit": 20, "offset": 0, - "total": 117, + "total": 118, "items": [ { "id": "MONDO:0019391", @@ -49,40 +49,46 @@ def search(): "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0002863", + "HP:0010469", + "HP:0000377", "HP:0002575", "HP:0000483", + "HP:0000238", "HP:0001249", "HP:0100587", + "HP:0100026", "HP:0040071", + "HP:0012639", + "HP:0008053", "HP:0006824", "HP:0005344", "HP:0002414", - "HP:0001199", + "HP:0002245", + "HP:0002023", + "HP:0001824", + "HP:0001646", + "HP:0000582", "HP:0000518", "HP:0000508", - "HP:0000010", + "HP:0000453", + "HP:0000047", + "HP:0007874", + "HP:0002650", "HP:0000252", - "HP:0001000", - "HP:0010469", - "HP:0000377", + "HP:0001882", + "HP:0002863", "HP:0002119", + "HP:0001510", "HP:0001392", "HP:0000864", "HP:0000316", - "HP:0000238", "HP:0000027", - "HP:0001562", - "HP:0001510", "HP:0100867", "HP:0100760", "HP:0100542", - "HP:0100026", - "HP:0012639", "HP:0012041", "HP:0010293", "HP:0008678", - "HP:0008053", "HP:0007565", "HP:0006265", "HP:0006101", @@ -92,25 +98,22 @@ def search(): "HP:0002827", "HP:0002823", "HP:0002251", - "HP:0002245", - "HP:0002023", "HP:0002007", - "HP:0001824", "HP:0001770", "HP:0001763", "HP:0001760", "HP:0001679", - "HP:0001646", "HP:0001643", "HP:0001639", "HP:0001636", "HP:0001631", + "HP:0001562", "HP:0001537", "HP:0001511", "HP:0001347", + "HP:0001199", "HP:0000813", "HP:0000639", - "HP:0000582", "HP:0000568", "HP:0000520", "HP:0000505", @@ -118,7 +121,6 @@ def search(): "HP:0000492", "HP:0000486", "HP:0000478", - "HP:0000453", "HP:0000365", "HP:0000364", "HP:0000347", @@ -132,14 +134,12 @@ def search(): "HP:0000130", "HP:0000083", "HP:0000072", - "HP:0000047", "HP:0000035", "HP:0000028", + "HP:0000010", "HP:0012745", "HP:0012210", - "HP:0007874", "HP:0002664", - "HP:0002650", "HP:0001671", "HP:0001263", "HP:0000079", @@ -150,47 +150,53 @@ def search(): "HP:0003220", "HP:0002817", "HP:0001903", - "HP:0001882", "HP:0001873", "HP:0001871", "HP:0001172", "HP:0001053", + "HP:0001000", ], "has_phenotype_label": [ - "Myelodysplasia", + "Absent testis", + "Abnormal pinna morphology", "Tracheoesophageal fistula", "Astigmatism", + "Hydrocephalus", "Intellectual disability", "Abnormal preputium morphology", + "Arteriovenous malformation", "Abnormal morphology of ulna", + "Abnormal nervous system morphology", + "Aplasia/Hypoplasia of the iris", "Cranial nerve paralysis", "Abnormal carotid artery morphology", "Spina bifida", - "Triphalangeal thumb", + "Meckel diverticulum", + "Anal atresia", + "Weight loss", + "Abnormal aortic valve morphology", + "Upslanted palpebral fissure", "Cataract", "Ptosis", - "Recurrent urinary tract infections", + "Choanal atresia", + "Hypospadias", + "Almond-shaped palpebral fissure", + "Scoliosis", "Microcephaly", - "Abnormality of skin pigmentation", - "Absent testis", - "Abnormal pinna morphology", + "Leukopenia", + "Myelodysplasia", "Ventriculomegaly", + "Growth delay", "Abnormality of the liver", "Abnormality of the hypothalamus-pituitary axis", "Hypertelorism", - "Hydrocephalus", "Azoospermia", - "Oligohydramnios", - "Growth delay", "Duodenal stenosis", "Clubbing of toes", "Abnormal localization of kidney", - "Arteriovenous malformation", - "Abnormal nervous system morphology", "Decreased fertility in males", "Aplasia/Hypoplasia of the uvula", "Renal hypoplasia/aplasia", - "Aplasia/Hypoplasia of the iris", "Multiple cafe-au-lait spots", "Aplasia/Hypoplasia of fingers", "Finger syndactyly", @@ -200,25 +206,22 @@ def search(): "Hip dislocation", "Abnormality of femur morphology", "Aganglionic megacolon", - "Meckel diverticulum", - "Anal atresia", "Frontal bossing", - "Weight loss", "Toe syndactyly", "Pes planus", "Abnormal foot morphology", "Abnormal aortic morphology", - "Abnormal aortic valve morphology", "Patent ductus arteriosus", "Hypertrophic cardiomyopathy", "Tetralogy of Fallot", "Atrial septal defect", + "Oligohydramnios", "Umbilical hernia", "Intrauterine growth retardation", "Hyperreflexia", + "Triphalangeal thumb", "Bicornuate uterus", "Nystagmus", - "Upslanted palpebral fissure", "Microphthalmia", "Proptosis", "Visual impairment", @@ -226,7 +229,6 @@ def search(): "Abnormal eyelid morphology", "Strabismus", "Abnormality of the eye", - "Choanal atresia", "Hearing impairment", "Hearing abnormality", "Micrognathia", @@ -240,14 +242,12 @@ def search(): "Abnormality of the uterus", "Renal insufficiency", "Hydroureter", - "Hypospadias", "Abnormal testis morphology", "Cryptorchidism", + "Recurrent urinary tract infections", "Short palpebral fissure", "Abnormal renal morphology", - "Almond-shaped palpebral fissure", "Neoplasm", - "Scoliosis", "Abnormal cardiac septum morphology", "Global developmental delay", "Abnormality of the urinary system", @@ -258,18483 +258,18794 @@ def search(): "Abnormality of chromosome stability", "Abnormality of the upper limb", "Anemia", - "Leukopenia", "Thrombocytopenia", "Abnormality of blood and blood-forming tissues", "Abnormal thumb morphology", "Hypopigmented skin patches", + "Abnormality of skin pigmentation", ], "has_phenotype_closure": [ - "UPHENO:0077872", - "UPHENO:0077874", - "HP:0001053", "HP:0001010", "UPHENO:0085070", - "CL:0000225", - "UPHENO:0084987", + "CL:0000458", + "HP:0001873", + "UPHENO:0085344", "UPHENO:0085189", - "HP:0001872", - "UPHENO:0086005", - "HP:0011873", + "UPHENO:0084987", + "UPHENO:0086049", + "HP:0011875", "CL:0000233", - "UPHENO:0088337", - "UBERON:0000178", - "CL:0002242", - "UPHENO:0088338", - "HP:0032251", - "UPHENO:0063722", - "UPHENO:0035147", - "GO:0005623", - "GO:0034101", - "GO:0048468", - "UPHENO:0085118", + "CL:0000457", + "UPHENO:0086173", + "HP:0001939", + "HP:0003220", + "GO:0008152", + "HP:0000002", + "UPHENO:0080351", + "UPHENO:0075159", + "GO:0030218", "HP:0010972", + "GO:0030099", + "UPHENO:0077892", + "GO:0030097", + "HP:0001877", "HP:0025461", - "GO:0048869", + "UPHENO:0084928", + "CL:0000329", + "UPHENO:0088162", "GO:0048871", - "HP:0012130", - "GO:0030099", + "CL:0000764", + "GO:0048872", + "UPHENO:0088170", + "GO:0048869", + "GO:0002376", + "GO:0009987", + "GO:0042592", + "HP:0005522", "HP:0020047", - "HP:0002818", - "CL:0000738", - "UBERON:0001423", + "CL:0000232", + "UBERON:0015001", "UPHENO:0080187", - "HP:0001263", - "HP:0010674", - "HP:0002650", - "UPHENO:0046753", + "HP:0002818", "UPHENO:0075198", - "UPHENO:0081755", - "UPHENO:0053580", - "HP:0100627", - "HP:0010936", - "UBERON:0035651", + "HP:0012745", + "HP:0000010", + "UPHENO:0002263", + "UPHENO:0053644", + "HP:0000028", + "UPHENO:0002806", + "UBERON:0000056", + "UBERON:0006555", "UBERON:0036295", - "UPHENO:0076780", - "HP:0000072", - "HP:0007874", - "HP:0000069", + "HP:0025633", + "UPHENO:0002442", "UPHENO:0086132", - "UPHENO:0086128", - "CL:0000255", "HP:0000083", + "UPHENO:0002411", + "HP:0012211", "HP:0000135", - "HP:0000175", - "UPHENO:0033635", + "HP:5201015", + "UPHENO:0081423", + "UPHENO:0034110", "UPHENO:0063513", "HP:0000268", - "UPHENO:0075148", - "UPHENO:0088170", - "UBERON:0012180", + "UPHENO:0001208", "UBERON:0013766", + "UPHENO:0072402", + "UBERON:0001084", "UBERON:1000021", - "HP:0000286", - "UPHENO:0085344", - "UPHENO:0075159", + "UPHENO:0087928", + "UPHENO:0087058", + "HP:0000324", "UPHENO:0084734", - "UPHENO:0020809", - "UPHENO:0041151", + "HP:0001999", + "HP:0001263", + "UPHENO:0005982", + "UPHENO:0041084", + "UPHENO:0041083", "UPHENO:0076704", - "UPHENO:0081314", - "UBERON:0001710", - "UPHENO:0081786", - "HP:0001882", "UBERON:0004768", - "UPHENO:0084457", - "UPHENO:0083646", + "UPHENO:0069249", + "UPHENO:0081786", + "HP:0009116", "UBERON:0001708", "UBERON:0011156", + "UBERON:0003278", + "UBERON:0001684", + "UPHENO:0084457", + "HP:0000286", + "HP:0009118", + "UPHENO:0088116", + "UBERON:0001710", + "UPHENO:0083646", + "UPHENO:0081314", + "HP:0004322", "HP:0030791", + "CL:0000081", + "UBERON:0012360", + "HP:0011873", + "UPHENO:0081788", + "UPHENO:0081141", + "HP:0000347", "UPHENO:0080087", - "UPHENO:0088116", - "UPHENO:0035025", - "HP:0000364", - "UPHENO:0052970", + "HP:0009122", + "HP:0000277", "GO:0050954", - "UPHENO:0052231", - "HP:0000453", - "UPHENO:0087894", - "UBERON:0004771", - "UBERON:0005725", - "UBERON:0000004", - "UPHENO:0087950", - "UPHENO:0003048", - "UBERON:0002268", - "HP:0001999", - "UPHENO:0021517", - "UPHENO:0063595", + "HP:0000365", + "UPHENO:0005518", + "UPHENO:0052970", "HP:0000486", - "GO:0007601", - "UPHENO:0063527", + "HP:0000549", + "GO:0050953", "UPHENO:0050236", + "GO:0034101", + "UPHENO:0050622", "UPHENO:0052164", - "GO:0050953", - "GO:0007600", - "HP:0000520", "UPHENO:0085881", + "HP:0000520", "HP:0000568", - "HP:0000582", - "HP:0001751", - "UPHENO:0078736", - "UPHENO:0076675", - "UPHENO:0080601", - "NBO:0000411", + "UPHENO:0075219", + "HP:0100887", + "HP:0007670", + "UPHENO:0079837", + "HP:0000359", "HP:0000496", - "HP:0000639", - "NBO:0000417", - "UPHENO:0079839", - "UPHENO:0041395", - "HP:0000008", + "UPHENO:0080602", + "UPHENO:0003044", + "UPHENO:0066972", + "UPHENO:0080581", + "HP:0011821", + "HP:0012547", + "HP:0031704", + "UPHENO:0079828", + "UPHENO:0002240", "UBERON:0003975", - "UPHENO:0041664", - "CL:0000457", + "HP:0000008", + "UPHENO:0041033", "HP:0000130", "UPHENO:0003053", - "HP:0031105", - "UPHENO:0005170", + "UBERON:0003100", + "HP:0002719", + "UPHENO:0076766", "HP:0010460", + "UPHENO:0005170", + "UBERON:0000993", "UBERON:0013515", - "UPHENO:0076766", - "UBERON:0003134", - "UPHENO:0087928", - "UBERON:0000995", - "UPHENO:0087974", - "UPHENO:0050606", - "GO:0050882", - "UPHENO:0049622", - "UPHENO:0041033", - "HP:0031826", + "UBERON:0012358", + "GO:0002262", + "UBERON:0003620", + "UBERON:0006048", + "UBERON:5006048", + "UBERON:0015025", + "HP:0001172", + "UBERON:0015024", + "UPHENO:0076724", + "UPHENO:0021800", + "UBERON:5102389", + "NBO:0000403", + "NBO:0000001", "NBO:0000389", - "UPHENO:0079833", + "GO:0050905", + "NBO:0000338", + "UPHENO:0041151", + "UPHENO:0078622", + "HP:0000708", + "HP:0001347", + "UPHENO:0049622", + "GO:0007610", + "UPHENO:0083263", + "UBERON:0004742", + "NBO:0000388", + "UPHENO:0050620", + "GO:0060004", + "UPHENO:0050613", + "UPHENO:0080585", + "GO:0050896", + "UPHENO:0050079", + "UPHENO:0050606", + "HP:0100022", + "UPHENO:0080393", + "UPHENO:0076794", + "HP:0001551", + "HP:0001537", + "UBERON:0003697", "HP:0004299", "UPHENO:0002712", - "UPHENO:0087123", - "HP:0010866", - "HP:0004298", "HP:0003549", - "UPHENO:0075684", - "UPHENO:0075843", - "HP:0001631", - "HP:0011994", - "UBERON:0002081", - "UPHENO:0015303", - "UPHENO:0086855", + "HP:0004298", + "UBERON:0007118", + "UPHENO:0086122", + "UBERON:0000474", + "HP:0010866", + "UBERON:0000173", + "HP:0001562", + "HP:0001560", + "UBERON:0000323", + "HP:0001197", + "UPHENO:0075949", + "UPHENO:0086128", + "UPHENO:0015329", + "UPHENO:0069254", + "UBERON:0002085", + "UPHENO:0086857", "UPHENO:0019890", - "HP:0001629", - "UPHENO:0086864", - "HP:0000028", + "GO:0007600", + "HP:0001671", + "UPHENO:0019886", + "UBERON:0002094", + "UBERON:0003037", + "HP:0031654", + "HP:0011563", + "UPHENO:0042775", + "UBERON:0002099", "UPHENO:0084482", + "HP:0000218", + "UBERON:0002146", + "HP:0001714", + "UPHENO:0086864", + "UPHENO:0086863", + "HP:0001707", + "HP:0002623", + "UPHENO:0086854", "UPHENO:0084715", - "UPHENO:0033604", - "HP:0010438", - "UPHENO:0000996", - "HP:0001641", - "HP:0003220", - "HP:0011563", - "HP:0031654", - "UPHENO:0076732", + "UPHENO:0084489", "HP:0001636", + "HP:0001641", + "HP:0011025", + "UBERON:0010688", + "UPHENO:0086855", "HP:0011545", - "HP:0031653", - "UPHENO:0086854", - "UPHENO:0066927", - "UBERON:0000383", - "UPHENO:0076781", + "UPHENO:0024906", + "UPHENO:0077800", + "HP:0001637", "UBERON:0018260", - "UBERON:0002349", "UBERON:0005983", + "UBERON:0000383", + "UPHENO:0076781", "HP:0001638", - "UPHENO:0084928", - "UPHENO:0033603", - "UPHENO:0087309", - "HP:0011603", + "UBERON:0003513", + "HP:0001643", + "UBERON:0011695", + "UBERON:0003834", + "UBERON:0005985", "UBERON:0018674", "UPHENO:0087018", - "HP:0100887", + "UPHENO:0087309", + "UBERON:0004716", + "UPHENO:0015290", + "UBERON:0006876", "UBERON:0002201", - "UBERON:0005985", - "UPHENO:0087612", - "UBERON:0000948", - "UBERON:0035553", - "UPHENO:0086614", - "UPHENO:0087070", - "UBERON:0005956", - "UPHENO:0076743", - "UBERON:0005623", - "UBERON:0005337", - "UBERON:0004151", - "UBERON:0004145", - "UPHENO:0015319", - "UBERON:0015228", - "UBERON:0002084", - "UPHENO:0076810", - "UPHENO:0066972", + "UBERON:0003498", + "HP:0002692", "UBERON:0003519", - "UBERON:0013768", - "UBERON:0000947", + "UPHENO:0076809", + "UBERON:0010191", "HP:0001679", - "HP:0002692", - "HP:0001763", - "UPHENO:0041369", - "UPHENO:0086173", - "UPHENO:0041203", + "UPHENO:0082454", + "HP:0001631", "UPHENO:0041565", + "UPHENO:0041369", + "UPHENO:0078347", "UPHENO:0078246", - "HP:0004323", - "UPHENO:0082794", - "UPHENO:0054261", - "HP:0004325", - "UPHENO:0082761", - "HP:0001824", - "UPHENO:0086595", - "UBERON:0001703", - "UBERON:0004766", - "UPHENO:0081603", - "GO:0048872", - "UBERON:0002514", - "UBERON:0007842", - "HP:0001627", - "UPHENO:0085876", - "GO:0009987", - "UPHENO:0005994", - "CL:0000329", - "UPHENO:0002411", + "UBERON:0003457", "UBERON:0011300", - "UBERON:0000179", - "UBERON:0005401", - "UPHENO:0084465", - "UBERON:0001299", + "UPHENO:0041041", + "UPHENO:0082905", + "UBERON:0008200", + "UBERON:0002020", + "UBERON:0000956", + "UBERON:0000203", + "HP:0002007", "HP:0430000", - "UBERON:0011215", + "UPHENO:0076732", + "UBERON:0007914", "UBERON:0004756", - "UPHENO:0075219", - "GO:0050905", - "UBERON:0016526", - "HP:0001877", - "UPHENO:0082900", - "UPHENO:0075933", - "HP:0001770", - "HP:0002007", + "UBERON:0001869", + "UPHENO:0055092", + "UPHENO:0005994", + "UBERON:0004339", + "UBERON:0010364", "UBERON:0011158", - "UBERON:0011159", - "HP:0005120", - "UBERON:0016548", - "UPHENO:0086866", - "UBERON:0002020", - "UBERON:0016525", - "UBERON:0000203", + "HP:0002683", + "UBERON:0003528", + "UBERON:0000209", + "HP:0000290", "UPHENO:0087530", - "UPHENO:0087531", - "UBERON:0001245", - "UBERON:0000161", - "HP:0004378", - "UBERON:0003528", - "HP:0002023", - "UBERON:0002116", - "UPHENO:0041084", - "HP:0002245", - "NBO:0000001", - "HP:0002251", - "UPHENO:0050034", - "UPHENO:0087602", - "UBERON:0000056", - "UPHENO:0087121", - "UBERON:0002410", - "UPHENO:0088183", - "UBERON:0001808", - "UPHENO:0088171", - "UBERON:0001712", - "HP:0001537", + "UPHENO:0088115", + "UPHENO:0086595", + "HP:0002538", + "UPHENO:0084465", + "UBERON:0005401", + "UBERON:0016529", + "UPHENO:0002700", + "HP:0001763", "UPHENO:0086978", - "UBERON:0002085", "UPHENO:0087933", - "UPHENO:0077889", - "HP:0000366", + "HP:0410015", + "UBERON:0002005", + "UBERON:0001808", + "UBERON:0003338", + "UPHENO:0085068", + "HP:0025028", + "UBERON:0000011", + "UPHENO:0087601", + "UBERON:0001809", "HP:0410014", - "UBERON:0005893", - "UPHENO:0021045", - "HP:0002823", - "UBERON:0008202", - "UBERON:0003826", - "UBERON:0002472", - "UPHENO:0086680", - "UPHENO:0087892", - "HP:0001373", - "UBERON:0001464", - "UPHENO:0076767", - "HP:0002644", - "UBERON:0003657", - "UBERON:0005179", - "UPHENO:0084767", - "UBERON:0010428", - "UPHENO:0086863", - "UBERON:0001271", - "UBERON:0001272", - "UPHENO:0076728", - "UPHENO:0079837", - "UBERON:0000993", - "HP:0001511", - "UBERON:0007828", - "UBERON:0000982", - "HP:0001367", - "UBERON:0004770", - "UPHENO:0015324", - "UBERON:0005913", - 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"UPHENO:0020967", - "UPHENO:0088132", - "UPHENO:0085302", - "HP:0000152", - "UPHENO:0076722", - "UPHENO:0041098", - "UPHENO:0085330", - "UPHENO:0050622", - "HP:0030311", - "HP:0012372", - "HP:0000271", - "HP:0000549", - "UPHENO:0049367", - "UBERON:0001434", - "GO:0021915", - "HP:0031704", - "UBERON:0004537", - "UBERON:0003978", - "UBERON:0002104", - "UBERON:0007811", - "HP:0001643", - "UBERON:0003498", - "UBERON:0004086", - "UPHENO:0085984", - "UPHENO:0041462", - "UPHENO:0002764", - "UPHENO:0079828", - "UBERON:0035639", - "UBERON:0001463", - "UPHENO:0075696", - "UBERON:5106048", - "UPHENO:0020998", - "UBERON:0010230", - "UBERON:0015203", - "UPHENO:0002844", - "UPHENO:0087510", - "UPHENO:0081575", - "HP:0002778", - "HP:0100543", - "UPHENO:0087577", - "UBERON:0001032", - "UPHENO:0020888", - "UPHENO:0041079", - "UBERON:0000064", - "UBERON:0006800", - "HP:0011875", - "GO:0040007", - "HP:0000078", - "UPHENO:0087203", - "GO:0009888", - "UBERON:0004921", - "HP:0012373", - "UBERON:0003113", - "GO:0048729", - "UPHENO:0002433", - "HP:0001626", - "UBERON:0004088", + "UPHENO:0021045", + "HP:0001000", "UBERON:0012430", - "UPHENO:0020584", - "HP:0011821", - "UBERON:0000075", - "UPHENO:0076799", - "UBERON:0000167", + "UPHENO:0035025", + "UPHENO:0080185", + "HP:0012373", + "UBERON:0002091", + "GO:0035239", + "HP:0000813", + "HP:0100542", + "UBERON:0000045", + "UPHENO:0002910", + "UBERON:0001272", + "GO:0007283", + "UPHENO:0082449", + "HP:0031703", + "UPHENO:0041079", + "UBERON:0019231", + "UBERON:0010708", + "GO:0050890", + "UBERON:0000019", + "UBERON:0000073", + "GO:0050882", + "UBERON:0013522", + "HP:0008438", + "UPHENO:0076798", + "UBERON:0010222", + "UPHENO:0076805", "UPHENO:0076785", + "UBERON:0001456", + "GO:0035148", + "HP:0000453", + "GO:0048729", + "UBERON:0016491", + "UBERON:0000033", + "UBERON:0006052", + "UPHENO:0033572", + "HP:0002246", + "HP:0001710", + "UPHENO:0087363", + "UBERON:0004375", + "GO:0009792", + "UBERON:5101463", + "GO:0007399", + "GO:0021915", + "HP:0002060", + "GO:0072175", + "UPHENO:0055730", + "UBERON:0005897", + "UBERON:0005174", + "UBERON:0010741", + "UPHENO:0041037", + "HP:0009121", + "HP:0005918", + "UBERON:0034944", + "UBERON:0011164", + "UPHENO:0075655", + "HP:0007874", + "UPHENO:0002992", + "UBERON:0002050", + "UBERON:0003914", + "UBERON:0003920", "UBERON:0001801", - "BFO:0000141", - "UBERON:0003278", - "UBERON:0000474", - "HP:0002827", - "UPHENO:0003058", - "UBERON:0000072", - "UPHENO:0021304", - "UPHENO:0080300", - "HP:5201015", - "UBERON:0001017", - "HP:0004328", - "UPHENO:0081313", - "UPHENO:0041053", - "UBERON:0000065", - "UPHENO:0084489", - "UPHENO:0078179", - "UBERON:0002530", - "UPHENO:0075997", - "UPHENO:0086644", - "UBERON:0004923", - "UBERON:0000160", - "UPHENO:0082467", + "UBERON:0010371", + "UPHENO:0015282", + "HP:0000366", + "UPHENO:0087307", + "UPHENO:0050034", + "HP:0003312", + "HP:0000119", + "GO:0043009", + "UBERON:0000061", + "UPHENO:0076803", + "GO:0001838", + "UBERON:0006717", + "UBERON:0013768", + "UPHENO:0084771", + "UPHENO:0002941", + "UPHENO:0019477", + "UPHENO:0076783", "UPHENO:0021038", - "UPHENO:0086589", - "UPHENO:0042834", - "HP:0000481", - "HP:0005922", - "HP:0001881", - "UPHENO:0056237", + "UPHENO:0086612", + "UBERON:0001299", + "UPHENO:0056072", + "HP:0001549", + "HP:0011004", + "HP:0002245", + "HP:0040195", + "UPHENO:0020809", + "UBERON:0002108", + "UBERON:0000160", + "UPHENO:0082761", + "CL:0000738", + "UBERON:0002116", "UBERON:0001444", - "UBERON:0000045", - "UPHENO:0002905", - "HP:0011793", - "UBERON:0001049", - "UPHENO:0087665", - "UBERON:0012475", - "UBERON:0012354", - "HP:0000539", - "UPHENO:0080202", - "UPHENO:0084766", - "UPHENO:0086201", - "UBERON:0002513", - "UPHENO:0014240", - "UPHENO:0003070", - "UPHENO:0084761", - "UPHENO:0083263", - "UBERON:0000153", - "UBERON:0004572", - "UPHENO:0081790", - "GO:0022414", - "UBERON:0001004", - "UBERON:0000475", - "UBERON:0010741", + "UBERON:0035651", + "UPHENO:0002808", + "UPHENO:0087427", + "HP:0002244", + "UPHENO:0088337", + "UPHENO:0076728", "HP:0008050", - "HP:0012331", - "HP:0002795", - "UPHENO:0015280", - "HP:0000002", - "HP:0000077", - "GO:0001843", - "UPHENO:0086049", - "UBERON:0000117", - "BFO:0000040", - "HP:0011314", - "HP:0031910", - "UBERON:0004709", - "UPHENO:0020258", - "HP:0011355", - "UBERON:0001709", - "HP:0000315", - "UBERON:0010425", - "HP:0100547", - "UBERON:0004339", - "UBERON:0001005", - "BFO:0000003", - "UPHENO:0087846", - "HP:0410008", - "UBERON:0016529", - "HP:0100691", - "UBERON:0010314", - "UPHENO:0002448", - "HP:0000080", - "UPHENO:0054299", - "PR:000050567", - "UBERON:0011138", - "UPHENO:0041591", - "HP:0011024", - "UBERON:0001950", - "UPHENO:0087433", - "UPHENO:0085068", - "HP:0005607", - "UPHENO:0074572", - "UPHENO:0019766", - "UPHENO:0077885", - "UPHENO:0001005", - "UPHENO:0086610", - "UPHENO:0020748", - "UPHENO:0002536", - "UBERON:0010688", - "UBERON:0004111", - "UPHENO:0033572", - "CL:0000081", - "UPHENO:0082129", - "UBERON:0001445", - "UBERON:0008811", - "UBERON:0010358", - "HP:0005344", - "UBERON:0002100", - "GO:0050877", - "UBERON:0001684", - "UBERON:0003126", - "UPHENO:0004523", - "UPHENO:0015282", - "UBERON:0002193", - "HP:0000356", - "HP:0011961", + "UPHENO:0086644", + "UPHENO:0076804", + "UPHENO:0046505", + "UPHENO:0077889", + "UBERON:0000161", + "UPHENO:0086824", + "UPHENO:0074228", + "UBERON:0001245", + "UPHENO:0076760", + "UPHENO:0084448", + "UPHENO:0021304", "HP:0010293", - "HP:0002086", - "UBERON:0000467", - "UBERON:0007832", - "HP:0010469", - "UBERON:0000468", - "UBERON:0034713", - "HP:0011446", - "UBERON:0002217", - "HP:0100587", + "UBERON:0013702", + "HP:0002023", + "UBERON:0002355", + "UPHENO:0087509", + "HP:0006265", + "UPHENO:0054261", + "UPHENO:0054299", + "UPHENO:0041203", + "HP:0004325", + "HP:0040194", + "UPHENO:0031839", + "UPHENO:0033559", + "UPHENO:0082794", "HP:0001507", - "UBERON:0001333", - "UPHENO:0088186", - "UPHENO:0080352", - "UBERON:0000025", - "HP:0002664", - "UBERON:0003513", - "UBERON:0000915", + "UBERON:0010543", + "UPHENO:0049874", + "HP:0000174", + "UBERON:0003978", "HP:0001159", - "UBERON:0009569", - "UPHENO:0012541", - "UBERON:0003133", - "UBERON:0003221", - "UPHENO:0076803", - "UBERON:0003037", - "UPHENO:0075945", - "UPHENO:0081584", - "PATO:0000001", - "HP:0002863", - "UPHENO:0076692", - "UBERON:0005181", - "UBERON:0001456", + "UBERON:0005725", + "UPHENO:0086858", + "UBERON:0001555", + "UPHENO:0015317", + "UBERON:0005623", + "UPHENO:0087612", + "UBERON:0004288", + "HP:0009815", + "UPHENO:0015324", + "HP:0001770", + "UPHENO:0086143", + "UBERON:0002389", + "HP:0001654", + "UPHENO:0002839", + "UPHENO:0086614", + "UBERON:0000915", + "HP:0034915", + "UPHENO:0003070", + "UPHENO:0050008", + "UBERON:0002090", + "HP:0006496", + "UBERON:0005956", + "UBERON:0000946", + "CL:0000988", + "UPHENO:0081436", + "UBERON:0002529", + "UBERON:0004381", + "UPHENO:0076810", + "HP:0000069", + "UPHENO:0087070", + "UBERON:0002097", + "UPHENO:0015319", + "UPHENO:0082900", + "UBERON:0000948", + "UBERON:0002084", + "UPHENO:0015327", + "UBERON:0019221", + "HP:0000492", + "UPHENO:0080382", + "HP:0200006", + "UBERON:0001474", + "UPHENO:0063722", + "UBERON:0000117", + "UBERON:0034921", + "UPHENO:0003085", + "GO:0030154", + "UBERON:0004573", + "UBERON:0015052", + "HP:0032039", + "HP:0030669", + "UBERON:0010912", + "UPHENO:0086144", + "UPHENO:0021791", + "UBERON:0000179", + "UBERON:0000014", + "UPHENO:0086680", + "UPHENO:0076761", + "HP:0000518", + "HP:0001924", + "UPHENO:0018424", + "UBERON:0000965", + "UPHENO:0087578", + "UBERON:0005389", + "HP:0000508", + "GO:0048468", + "UPHENO:0087214", + "GO:0060562", + "UPHENO:0041644", + "UPHENO:0041667", + "UPHENO:0086699", + "UBERON:0010913", + "UBERON:0005726", + "UPHENO:0086628", + "UPHENO:0021517", + "UPHENO:0063621", + "HP:0010978", + "UPHENO:0086100", + "UPHENO:0003048", + "HP:0005105", + "HP:0011994", + "UPHENO:0002907", + "UPHENO:0084447", + "HP:0100790", + "HP:0010935", + "UBERON:0002268", + "UPHENO:0085330", + "UBERON:0003129", + "UPHENO:0002642", + "UBERON:0010740", + "UBERON:0000004", + "UPHENO:0063595", + "HP:0000929", + "UBERON:0010323", "UPHENO:0087814", - "UPHENO:0082875", - "UPHENO:0080221", - "UPHENO:0001002", - "GO:0001838", - "UPHENO:0010795", - "GO:0050890", - "NBO:0000313", - "UPHENO:0041041", - "UPHENO:0082356", - "UPHENO:0046538", - "HP:0002060", - "HP:0000483", + "UBERON:0007832", + "HP:0000415", + "HP:0100547", + "HP:0000144", + "UPHENO:0075852", + "HP:0000080", + "UBERON:0001008", + "UBERON:0012241", + "UPHENO:0002790", + "UBERON:5101466", + "HP:0032076", + "UBERON:0001556", + "UBERON:0000947", + "HP:0001574", + "HP:0010936", + "UBERON:8450002", + "HP:0000079", + "HP:0010438", + "HP:0000118", + "UPHENO:0005995", + "UPHENO:0020068", "UBERON:0007830", - "UPHENO:0041644", - "NCBITaxon:131567", - "UBERON:0007823", - "UPHENO:0002219", - "HP:0000795", - "UPHENO:0005433", - "UPHENO:0005518", - "UPHENO:0087816", - "UPHENO:0086122", - "UPHENO:0015290", - "UBERON:0002082", - "UBERON:0001890", - "UPHENO:0088115", - "HP:0003330", - "UPHENO:0088185", - "UPHENO:0087334", - "UBERON:0013765", - "UBERON:0010191", - "UBERON:0004119", - "UBERON:0001460", - "UBERON:0000466", - "UBERON:0000033", - "UBERON:0005440", - "CL:0000039", - "HP:0006101", - "UPHENO:0084816", + "HP:0200005", + "UPHENO:0065599", + "HP:0000252", + "HP:0003272", + "UBERON:0002472", + "HP:0002977", + "UPHENO:0080200", + "HP:0100886", + "UPHENO:0020888", + "UBERON:0001893", + "UPHENO:0087518", + "UPHENO:0075195", + "UBERON:0005899", + "UPHENO:0085984", + "CL:0000586", + "UBERON:0012359", + "HP:0004348", + "HP:0002715", + "UPHENO:0086045", + "UBERON:0001449", + "UBERON:0000178", + "HP:0011893", + "HP:0010987", + "HP:0004377", + "UPHENO:0063565", + "HP:0001392", + "UPHENO:0088321", + "UPHENO:0004459", + "UPHENO:0003020", + "UPHENO:0004536", + "UPHENO:0003116", + "UBERON:0002390", + "UPHENO:0088319", + "UBERON:0000949", + "UBERON:0001733", + "UPHENO:0085875", + "UPHENO:0035147", + "UBERON:0002387", + "CL:0000255", + "CL:0000219", + "UPHENO:0002948", + "HP:0001881", + "UBERON:0003113", + "UPHENO:0041212", + "UPHENO:0085410", + "UPHENO:0001440", + "UPHENO:0000541", + "HP:0002031", + "HP:0001373", + "UBERON:0012476", + "UPHENO:0000543", + "UBERON:0002423", + "UBERON:0002365", + "UBERON:0002330", + "HP:0002012", + "UBERON:0015204", + "UPHENO:0080126", + "UBERON:0005172", + "UPHENO:0002803", + "HP:0000818", + "UPHENO:0084767", + "UBERON:0000916", + "UBERON:0002417", + "NBO:0000417", + "HP:0000924", + "UPHENO:0074572", + "UBERON:0006925", + "UBERON:0002368", "CL:0000408", - "UBERON:0006555", - "BFO:0000001", - "GO:0016331", - "CL:0000232", - "HP:0002623", - "UPHENO:0004508", - ], - "has_phenotype_closure_label": [ - "decreased biological_process in skin of body", - "decreased biological_process in independent continuant", - "abnormal platelet morphology", - "Abnormal platelet morphology", - "abnormally decreased number of myeloid cell", - "serotonin secreting cell", - "Thrombocytopenia", - "abnormally decreased number of platelet", - "blood", - "abnormally decreased number of cell in the independent continuant", - "haemolymphatic fluid", - "abnormally decreased number of leukocyte in the blood", - "motile cell", - "Leukopenia", - "Abnormal immune system morphology", - "Abnormal cellular immune system morphology", - "Abnormal leukocyte morphology", - "abnormally decreased number of anatomical entity", - "Abnormal leukocyte count", - "abnormal number of anatomical enitites of type leukocyte", - "metabolic process", - "Abnormal cellular physiology", - "decreased size of the multicellular organism", - "Short stature", - "decreased height of the multicellular organism", - "myeloid cell", - "myeloid cell homeostasis", - "oxygen accumulating cell", - "hematopoietic cell", - "cell differentiation", - "cell development", - "Pyridoxine-responsive sideroblastic anemia", - "myeloid cell differentiation", - "Anemia", - "abnormal erythroid lineage cell morphology", - "abnormal hematopoietic cell morphology", - "anucleate cell", - "Abnormal erythrocyte morphology", - "Aplasia/Hypoplasia of the radius", - "radius bone", - "Almond-shaped palpebral fissure", - "Abnormal shape of the palpebral fissure", - "abnormal size of palpebral fissure", - "Short palpebral fissure", - "abnormally localised testis", - "abnormally localised anatomical entity", - "Abnormality of the lower urinary tract", - "lower urinary tract", - "renal pelvis/ureter", - "abnormal ureter morphology", - "Abnormality of the ureter", - "ureter", - "Abnormal ureter morphology", - "aplasia or hypoplasia of radius bone", - "Abnormal renal physiology", - "Renal insufficiency", - "non-functional anatomical entity", - "Puberty and gonadal disorders", - "abnormal incomplete closing of the secondary palate", - "High palate", - "increased height of the secondary palate", - "increased size of the head", - "skin of head", - "Epicanthus", - "abnormal skin of face morphology", - "increased length of the epicanthal fold", - "head or neck skin", - "epicanthal fold", - "abnormal skin of head morphology", - "Facial asymmetry", - "sloped anatomical entity", - "abnormal shape of forehead", - "sloped forehead", - "abnormal facial skeleton morphology", - "abnormal shape of palpebral fissure", - "Aplasia/Hypoplasia of the mandible", - "abnormal jaw skeleton morphology", - "abnormal mandible morphology", - "homeostatic process", - "Abnormal mandible morphology", - "Abnormal jaw morphology", - "anatomical entity hypoplasia in face", - "jaw skeleton", - "Dolichocephaly", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "facial bone hypoplasia", - "aplasia or hypoplasia of mandible", - "dentary", - "mandible hypoplasia", - "bone of lower jaw", - "abnormal immune system morphology", - "decreased size of the mandible", - "Aplasia/Hypoplasia of facial bones", - "abnormal asymmetry of anatomical entity", - "decreased sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal radius bone morphology", - "Hearing abnormality", - "chemosensory system", - "abnormal nose morphology", - "abnormal asymmetry of face", - "internal naris atresia", - "abnormal number of anatomical enitites of type hematopoietic cell", - "naris", - "olfactory organ", - "abnormal nose", - "olfactory system", - "Abnormal nasal morphology", - "abnormal posterior nasal aperture morphology", - "Abnormality of the choanae", - "abnormal lower urinary tract", - "posterior nasal aperture atresia", - "Strabismus", - "Abnormality of vision", - "Hypopigmentation of the skin", - "sensory perception", - "visual perception", - "Visual impairment", - "abnormal urethra", - "abnormal sensory perception", - "sensory perception of light stimulus", - "decreased qualitatively visual perception", - "Proptosis", - "abnormal size of eyeball of camera-type eye", - "Microphthalmia", - "Abnormality of globe size", - "Abnormality of the palpebral fissures", - "Slanting of the palpebral fissure", - "abnormality of internal ear physiology", - "vestibulo-ocular reflex", - "Nystagmus", - "physiologic nystagmus", - "eye movement", - "abnormal eye movement", - "Functional abnormality of the inner ear", - "abnormal internal ear", - "abnormality of ear physiology", - "internal ear", - "female reproductive system", - "abnormal internal female genitalia morphology", - "Abnormality of metabolism/homeostasis", - "abnormal female reproductive organ morphology", - "shape uterus", - "Abnormality of the uterus", - "decreased qualitatively sensory perception of sound", - "subdivision of oviduct", - "bicornuate uterus", - "abnormal female reproductive system morphology", - "abnormal uterus", - "Bicornuate uterus", - "sensory perception of sound", - "female reproductive organ", - "uterus", - "female organism", - "skin of eyelid", - "bicornuate anatomical entity", - "internal female genitalia", - "decreased qualitatively pigmentation in independent continuant", - "abnormal behavior", - "neuromuscular process", - "voluntary musculoskeletal movement", - "abnormal response to external stimulus", - "response to external stimulus", - "Abnormal reflex", - "Abnormality of movement", - "voluntary movement behavior", - "body part movement", - "behavior process", - "reflex", - "abnormal voluntary movement behavior", - "decreased qualitatively biological_process in independent continuant", - "abnormal behavior process", - "decreased embryo development", - "Hypogonadism", - "abnormal umbilicus morphology", - "Abnormal umbilicus morphology", - "biogenic amine secreting cell", - "changed embryo development rate", - "abdominal wall", - "Hernia", - "connective tissue", - "abnormal incomplete closing of the abdominal wall", - "herniated anatomical entity", - "abnormal voluntary musculoskeletal movement", - "Abnormality of the abdominal wall", - "abnormal cardiac atrium morphology", - "cardiac atrium", - "abnormal cardiac atrium morphology in the independent continuant", - "interatrial septum", - "abnormal interatrial septum morphology", - "eukaryotic cell", - "Abnormal cardiac atrium morphology", - "Atrial septal defect", - "abnormally increased volume of anatomical entity", - "abnormal internal naris", - "hypertrophic cardiac ventricle", - "Overriding aorta", - "erythrocyte differentiation", - "Abdominal wall defect", - "Pulmonic stenosis", - "abnormal pulmonary valve morphology", - "aplasia or hypoplasia of skull", - "Abnormal cardiac septum morphology", - "Abnormal right ventricle morphology", - "cardiac septum", - "Abnormal facial skeleton morphology", - "right cardiac chamber", - "abnormal size of heart right ventricle", - "Abnormal ventriculoarterial connection", - "Abnormal ventricular septum morphology", - "abnormal cardiac septum morphology", - "Abnormal connection of the cardiac segments", - "Ventricular hypertrophy", - "hypertrophic heart right ventricle", - "abnormally decreased functionality of the anatomical entity", - "abnormally decreased number of leukocyte in the independent continuant", - "myocardium", - "abnormal myocardium morphology", - "abnormally decreased functionality of the myocardium", - "anatomical entity dysfunction in independent continuant", - "abnormal sensory perception of sound", - "Abnormal myocardium morphology", - "Patent ductus arteriosus", - "Abnormal male urethral meatus morphology", - "vasculature of trunk", - "heart blood vessel", - "embryonic cardiovascular system", - "Abnormal conjugate eye movement", - "Congenital malformation of the great arteries", - "conceptus", - "abnormal coronary vessel morphology", - "abnormal artery morphology in the independent continuant", - "abnormal incomplete closing of the ductus arteriosus", - "abnormal ductus arteriosus morphology", - "outflow tract", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal cardiac ventricle morphology in the heart", - "lower jaw region", - "abnormal uterus morphology", - "valve", - "semi-lunar valve", - "cardiac ventricle", - "outflow tract of ventricle", - "abnormal cardiac valve morphology in the heart", - "abnormal heart left ventricle morphology", - "glans", - "abnormal cardiac ventricle morphology", - "Abnormal aortic valve morphology", - "abnormal cardiac valve morphology in the independent continuant", - "outflow part of left ventricle", - "abnormal cardiac valve morphology", - "primary circulatory organ", - "Abnormal heart valve morphology", - "abnormal embryo development", - "abnormal abdominal wall", - "Abnormal cardiac ventricle morphology", - "thoracic cavity blood vessel", - "abnormal aorta morphology", - "Abnormal morphology of the great vessels", - "cellular developmental process", - "Abnormal aortic morphology", - "aortic system", - "flat anatomical entity in independent continuant", - "Increased head circumference", - "flat longitudinal arch of pes", - "flattened anatomical entity", - "flat anatomical entity", - "Pes planus", - "abnormally fused pedal digit and pedal digit", - "decreased multicellular organism mass", - "Weight loss", - "abnormality of anatomical entity mass", - "abnormality of multicellular organism mass", - "Decreased body weight", - "Decreased multicellular organism mass", - "decreased anatomical entity mass", - "frontal cortex", - "abnormal cerebral cortex morphology", - "prominent anatomical entity", - "cerebral hemisphere gray matter", - "forehead", - "prominent forehead", - "abnormally localised anatomical entity in independent continuant", - "Hypospadias", - "abnormal cranium morphology", - "abnormal shape of frontal cortex", - "cortex of cerebral lobe", - "abnormal neocortex morphology", - "dermal skeleton", - "primary subdivision of cranial skeletal system", - "cranium", - "central nervous system gray matter layer", - "dermal bone", - "non-functional kidney", - "pallium", - "Abnormal uterus morphology", - "central nervous system cell part cluster", - "dermal skeletal element", - "lobe of cerebral hemisphere", - "Abnormality of the forehead", - "cerebral hemisphere", - "great vessel of heart", - "Abnormal shape of the frontal region", - "Hypopigmented skin patches", - "neurocranium", - "dermatocranium", - "cranial bone", - "secretory cell", - "bone of craniocervical region", - "abnormal frontal cortex morphology", - "abnormal neurocranium morphology", - "heart layer", - "intramembranous bone", - "membrane bone", - "abnormal tetrapod frontal bone morphology", - "abnormal forehead", - "abnormal anus", - "Anal atresia", - "anus atresia", - "heart plus pericardium", - "Abnormality of the anus", - "Abnormal ileum morphology", - "abnormal ileum morphology", - "ganglion of peripheral nervous system", - "decreased pigmentation in independent continuant", - "neocortex", - "parasympathetic ganglion", - "decreased length of palpebral fissure", - "abnormal parasympathetic ganglion morphology", - "abnormal enteric ganglion morphology", - "involuntary movement behavior", - "abnormal enteric nervous system morphology", - "abnormal parasympathetic nervous system morphology", - "decreased height of the anatomical entity", - "Abnormality of the autonomic nervous system", - "abnormal autonomic nervous system", - "platelet", - "enteric ganglion", - "autonomic nervous system", - "abnormal ganglion of peripheral nervous system morphology", - "nucleate cell", - "Scoliosis", - "Abnormal peripheral nervous system ganglion morphology", - "abnormal autonomic nervous system morphology", - "Abnormality of femur morphology", - "hindlimb stylopod", - "abnormal hindlimb stylopod morphology", - "abnormal femur morphology", - "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "bone of hip region", - "pelvic girdle skeleton", - "articulation", - "Abnormality of the nose", - "orifice", - "zone of organ", - "Abnormal hip bone morphology", - "trunk bone", - "sensory perception of mechanical stimulus", - "hip", - "appendage girdle region", - "excretory tube", - "hip joint", - "zone of bone organ", - "girdle skeleton", - "Abnormality of lower limb joint", - "anatomical entity dislocation", - "girdle bone/zone", - "hip dislocation", - "Abnormal hip joint morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "skeletal joint", - "abnormal hindlimb joint", - "synovial joint", - "pelvic region element", - "pelvic region of trunk", - "abnormal skeletal joint morphology", - "abnormal joint of girdle morphology", - "Right ventricular hypertrophy", - "abnormal hip joint morphology", - "abnormal synovial joint of pelvic girdle morphology", - "Forearm undergrowth", - "decreased size of the anatomical entity in the independent continuant", - "heart", - "Aplasia/Hypoplasia of the ulna", - "decreased length of forelimb zeugopod bone", - "decreased length of anatomical entity", - "Abnormality of the urethra", - "forelimb zeugopod bone hypoplasia", - "ulna hypoplasia", - "decreased length of anatomical entity in independent continuant", - "interventricular septum", - "Upper limb undergrowth", - "decreased size of the anatomical entity", - "decreased length of long bone", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Lower extremity joint dislocation", - "Limb undergrowth", - "decreased size of the ulna", - "Hypoplasia of the ulna", - "aplasia or hypoplasia of ulna", - "bone element hypoplasia in independent continuant", - "vault of skull", - "abnormal spatial pattern of anatomical entity", - "aorta", - "manual digit 5", - "abnormality of kidney physiology", - "Hyperreflexia", - "anatomical entity atresia", - "enteric nervous system", - "Abnormal 5th finger morphology", - "Deviation of finger", - "Clinodactyly of the 5th finger", - "Deviation of the 5th finger", - "deviation of manual digit 5 towards the middle", - "Finger clinodactyly", - "deviation of anatomical entity towards the middle", - "deviation of anatomical entity", - "Decreased bone element mass density", - "Decreased anatomical entity mass density", - "ossification", - "Abnormality of bone mineral density", - "Syndactyly", - "Finger syndactyly", - "abnormally fused manual digit and manual digit", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "Aplasia/hypoplasia involving the skeleton", - "Aplasia/hypoplasia involving bones of the upper limbs", - "anatomical entity hypoplasia", - "Aplasia/hypoplasia involving bones of the hand", - "Aplasia/Hypoplasia of fingers", - "aplasia or hypoplasia of skeleton", - "Hypermelanotic macule", - "increased pigmentation in skin of body", - "increased pigmentation in independent continuant", - "increased qualitatively biological_process in independent continuant", - "Cafe-au-lait spot", - "deviation of manual digit 5", - "increased qualitatively biological_process", - "abnormally formed anatomical entity", - "Abnormal uvea morphology", - "abnormal iris morphology", - "Aplasia/Hypoplasia affecting the eye", - "joint of girdle", - "abnormal uvea morphology", - "anterior chamber of eyeball", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "chamber of eyeball", - "abnormal number of anatomical enitites of type platelet", - "uvea", - "Abnormal anterior chamber morphology", - "Abnormality iris morphology", - "Ocular anterior segment dysgenesis", - "abnormally formed anterior chamber of eyeball", - "iris", - "Renal hypoplasia/aplasia", - "zone of skin", - "abnormal palatine uvula morphology", - "Abnormal uvula morphology", - "midface", - "Abnormal oral cavity morphology", - "secondary palate", - "soft palate", - "anatomical cavity", - "Aplasia/Hypoplasia of the uvula", - "abnormal response to stimulus", - "morphological feature", - "abnormal blood cell", - "ganglion", - "abnormal pigmentation in independent continuant", - "abnormal anterior chamber of eyeball morphology", - "abnormal mouth", - "Abnormal soft palate morphology", - "abnormal size of multicellular organism", - "Abnormality of the abdominal organs", - "abnormal mouth morphology", - "Abnormality of the inner ear", - "abnormal vein morphology", - "Abnormal venous morphology", - "Cleft palate", - "abnormal anatomical entity morphology in the pelvic complex", - "Abnormality of the upper urinary tract", - "abnormal physiologic nystagmus", - "skeleton of pelvic complex", - "respiratory airway", - "kidney", - "oviduct", - "Abnormal localization of kidney", - "Sloping forehead", - "anterior uvea", - "abnormal kidney morphology", - "Abnormality of the cardiovascular system", - "hindlimb", - "Clubbing of toes", - "Orofacial cleft", - "Abnormal toe morphology", - "leukocyte", - "clavate anatomical entity", - "abnormal bone of pelvic complex morphology", - "abnormal skin of body", - "concave 3-D shape anatomical entity", - "posterior region of body", - "abnormal embryo morphology", - "abnormal upper urinary tract", - "Abnormal autonomic nervous system morphology", - "Abnormal midface morphology", - "abnormal pedal digit morphology", - "abdominal segment bone", - "3-D shape anatomical entity", - "longitudinal arch of pes", - "pedal digitopodium region", - "Cryptorchidism", - "synovial joint of pelvic girdle", - "pes", - "sensory system", - "pedal digit bone", - "Abnormal lower limb bone morphology", - "anatomical system", - "pedal digitopodium bone", - "primary subdivision of skull", - "Aplasia/Hypoplasia of the iris", - "pedal digit phalanx endochondral element", - "Irregular hyperpigmentation", - "hindlimb bone", - "hindlimb long bone", - "Global developmental delay", - "decreased size of the anatomical entity in the pectoral complex", - "leg", - "small intestine", - "Small intestinal stenosis", - "anatomical space", - "intestine", - "internal genitalia", - "pes bone", - "duodenum", - "Abnormal intestine morphology", - "frontal lobe", - "abnormal biological_process in independent continuant", - "ventricle of nervous system", - "pedal digit plus metapodial segment", - "Clinodactyly", - "growth", - "abnormal skull morphology", - "abnormal renal system morphology", - "hindlimb skeleton", - "Growth abnormality", - "delayed growth", - "Abnormal cardiovascular system physiology", - "hindlimb joint", - "cavitated compound organ", - "abnormal late embryo", - "abnormal ocular surface region morphology", - "abnormal hindlimb morphology", - "amniotic fluid", - "Abnormality of the amniotic fluid", - "Arteriovenous malformation", - "abnormal anus morphology", - "Abnormality of prenatal development or birth", - "shape forehead", - "abnormal soft palate morphology", - "Oligohydramnios", - "abnormally protruding eyeball of camera-type eye", - "cerebrospinal fluid", - "Aplasia/Hypoplasia affecting the uvea", - "Abnormal cerebrospinal fluid morphology", - "Abnormal erythroid lineage cell morphology", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "abnormal trachea morphology", - "upper digestive tract", - "abnormal cerebrospinal fluid morphology", - "immaterial entity", - "Toe syndactyly", - "trunk", - "pedal digit", - "Abnormality of globe location", - "musculature of body", - "ventricular system of brain", - "Hypertelorism", - "abnormal visual perception", - "increased length of the anatomical line between pupils", - "male germ cell", - "anatomical line", - "pelvic appendage", - "increased anatomical entity length in independent continuant", - "Cardiomyopathy", - "abnormal oral cavity morphology", - "abnormal location of anatomical entity", - "hypothalamus-pituitary axis", - "abnormal hypothalamus-pituitary axis", - "nervous system process", - "exocrine system", - "kinesthetic behavior", - "flattened anatomical entity in independent continuant", - "anatomical entity hypoplasia in independent continuant", - "blood vessel", - "hepatobiliary system", - "Intrauterine growth retardation", - "abdomen", - "liver", - "Abnormality of the endocrine system", - "abnormal brain ventricle morphology", - "Displacement of the urethral meatus", - "abnormal size of brain ventricle", - "Ventriculomegaly", - "Abnormal cerebral ventricle morphology", - "increased size of the anatomical entity", - "multi cell part structure", - "abnormality of internal male genitalia physiology", - "abnormal brain ventricle/choroid plexus morphology", - "hemopoiesis", - "Abnormal vestibulo-ocular reflex", - "femur", - "Metazoa", - "opaque lens of camera-type eye", - "Abnormal ear morphology", - "abnormal external ear", - "Abnormality of the outer ear", - "abnormal number of anatomical entities of type anatomical entity in blood", - "skeleton of pedal acropodium", - "abnormal external ear morphology", - "Abnormality of the ear", - "Abnormal pinna morphology", - "Abnormal frontal bone morphology", - "abdominal segment element", - "digit 1 plus metapodial segment", - "abnormal ear", - "external ear", - "abnormal number of anatomical enitites of type sperm", - "decreased biological_process", - "Cataract", - "semen", - "reproductive process", - "bony vertebral centrum", - "Decreased fertility in males", - "reproduction", - "abnormal ear morphology", - "Abnormal internal genitalia", - "brain ventricle", - "abnormal closing of the anatomical entity", - "Abnormal testis morphology", - "subdivision of skeleton", - "abnormal anatomical entity, curved", - "sexual reproduction", - "developmental process involved in reproduction", - "segment of pes", - "multicellular organismal reproductive process", - "skeleton of pedal digitopodium", - "abnormal reproductive process", - "skin of face", - "decreased qualitatively developmental process", - "multicellular organismal movement", - "Abnormal atrial septum morphology", - "absent anatomical entity in the semen", - "abnormal anatomical entity length", - "abnormal number of anatomical enitites of type cell", - "germ line cell", - "cardiac chamber", - "abnormal anatomical entity morphology", - "changed developmental process rate", - "Hip dislocation", - "malformed anatomical entity", - "Abnormal peripheral nervous system morphology", - "root", - "abnormal multicellular organismal reproductive process", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormally fused anatomical entity and anatomical entity", - "aplasia or hypoplasia of palatine uvula", - "absent gamete", - "digit 5", - "venous blood vessel", - "Functional abnormality of male internal genitalia", - "anatomical wall", - "absent sperm in the semen", - "Abnormality of the liver", - "obsolete multicellular organism reproduction", - "Azoospermia", - "decreased pigmentation in multicellular organism", - "Sideroblastic anemia", - "Non-obstructive azoospermia", - "increased biological_process in skin of body", - "abnormal cornea, asymmetrically curved", - "absent anatomical entity in the multicellular organism", - "Abnormal heart morphology", - "Multiple cafe-au-lait spots", - "pelvic complex", - "sperm", - "deviation of digit towards the middle", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "increased size of the anatomical entity in independent continuant", - "absent anatomical entity in the independent continuant", - "decreased qualitatively biological_process", - "specifically dependent continuant", - "Abnormal spermatogenesis", - "Micrognathia", - "abnormal internal genitalia", - "Abnormality of the face", - "decreased qualitatively reproductive process", - "abnormal heart right ventricle morphology", - "Abnormal toe phalanx morphology", - "Abnormal ganglion morphology", - "abnormal anatomical entity mass density", - "male gamete generation", - "decreased developmental process", - "abnormal gamete generation", - "abnormal developmental process involved in reproduction", - "abnormal interventricular septum morphology", - "abnormal anatomical entity morphology in the heart", - "prepuce", - "Decreased fertility", - "integument", - "pigmentation", - "brain ventricle/choroid plexus", - "abnormal vault of skull", - "Abnormality of skin morphology", - "Abnormality of the skin", - "abnormal craniocervical region morphology", - "abnormal integument", - "Abnormal oral morphology", - "abnormal skin of body morphology", - "Abnormality of brain morphology", - "erythrocyte homeostasis", - "abnormal arch of centrum of vertebra", - "venous system", - "Abnormal forebrain morphology", - "abnormal anatomical entity morphology in the brain", - "abnormal telencephalon morphology", - "Abnormal involuntary eye movements", - "aplasia or hypoplasia of anatomical entity", - "abnormal pes morphology", - "All", - "organism", - "increased size of the heart right ventricle", - "Abnormal skull morphology", - "embryonic tissue", - "Opisthokonta", - "reproductive organ", - "digitopodium bone", - "organism substance", - "eye", - "Aplasia/Hypoplasia of the testes", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormality of reproductive system physiology", - "regional part of brain", - "Microcephaly", - "increased qualitatively response to stimulus", - "endocrine system", - "skull", - "abnormal size of anatomical entity", - "aplasia or hypoplasia of telencephalon", - "abnormal leukocyte morphology", - "abnormal brain morphology", - "skeleton of pes", - "stylopod", - "organ part", - "immune system", - "renal system", - "esophagus", - "Abnormality of the urinary system physiology", - "skeleton of lower jaw", - "bone of appendage girdle complex", - "Unusual infection", - "excretory system", - "abnormal renal system", - "Abnormality of the immune system", - "palpebral fissure", - "abnormally fused pedal digit and anatomical entity", - "autonomic ganglion", - "deviation of manual digit towards the middle", - "Recurrent urinary tract infections", - "Abnormality of the urinary system", - "Ptosis", - "Craniofacial cleft", - "ductus arteriosus", - "neuron projection bundle", - "abnormal eyelid morphology", - "intromittent organ", - "Abnormality of skin pigmentation", - "autopodial extension", - "eyelid", - "abnormal camera-type eye morphology", - "Abnormal male reproductive system physiology", - "drooping eyelid", - "organ system subdivision", - "Abnormal eyelid morphology", - "anatomical line between pupils", - "system development", - "ocular adnexa", - "tissue morphogenesis", - "abnormal manus morphology", - "Abnormality of immune system physiology", - "multi organ part structure", - "Meckel diverticulum", - "transparent eye structure", - "Abnormal lens morphology", - "lens of camera-type eye", - "abnormal immune system", - "neural tube", - "opaque anatomical entity", - "abnormal anatomical entity morphology in the manus", - "Abnormality of skull size", - "abnormal manus", - "ventricular system of central nervous system", - "acropodium region", - "neural tube closure", - "manual digit 1", - "abnormal nervous system", - "manual digit plus metapodial segment", - "abnormal shape of external ear", - "skeleton of manus", - "gonad", - "abnormal zone of skin morphology", - "postcranial axial skeletal system", - "digit 1 digitopodial skeleton", - "asymmetrically curved anatomical entity", - "forelimb zeugopod bone", - "manual digit digitopodial skeleton", - "skeleton of manual acropodium", - "Abnormal digit morphology", - "abnormal manual digit morphology in the manus", - "Hernia of the abdominal wall", - "femur endochondral element", - "Abnormality of head or neck", - "Abnormality of reproductive system physiology", - "digit plus metapodial segment", - "abnormal kidney", - "trunk blood vessel", - "bone of pelvic complex", - "Abnormal bone structure", - "acropodial skeleton", - "abnormal bone element mass density", - "brain", - "manual digitopodium region", - "Hypertrophic cardiomyopathy", - "manus", - "cardiac valve", - "decreased spermatogenesis", - "abnormal prepuce of penis morphology", - "abnormal endocrine system", - "limb long bone", - "manual digit bone", - "Abnormal thumb morphology", - "Eumetazoa", - "segment of autopod", - "jaw region", - "manual digit phalanx endochondral element", - "abnormal manual digit morphology in the independent continuant", - "vein", - "internal male genitalia", - "Abnormal ocular adnexa morphology", - "Abnormal pulmonary valve physiology", - "Abnormality of thumb phalanx", - "Abnormal finger phalanx morphology", - "arterial system", - "abnormal phalanx of manus morphology", - "septum", - "autopodial skeleton", - "coronary vessel", - "abnormal anatomical entity, asymmetrically curved", - "abnormal anatomical entity morphology in the skeleton of manus", - "facial bone", - "Hearing impairment", - "abnormal digit", - "abnormally fused anatomical entity and manual digit", - "digestive system gland", - "abnormal ganglion morphology", - "phalanx", - "manual digit 1 phalanx endochondral element", - "autopod endochondral element", - "autopod bone", - "phalanx of manus", - "main body axis", - "manual digit", - "tetrapod frontal bone", - "limb joint", - "abnormal phalanx morphology", - "male reproductive system", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "future central nervous system", - "abnormally fused digit and anatomical entity", - "Growth delay", - "abnormal location of eyeball of camera-type eye", - "digitopodium region", - "Abnormality of the vertebral column", - "ecto-epithelium", - "embryonic structure", - "skeletal joint dislocation", - "developmental process", - "manual digit 1 digitopodial skeleton", - "abnormal vertebral column", - "abnormality of camera-type eye physiology", - "cranial nerve", - "embryonic epithelial tube formation", - "Abnormality of the peripheral nervous system", - "Hypoplastic facial bones", - "abnormal semi-lunar valve morphology", - "Reduced bone mineral density", - "Macule", - "abnormal reproductive system", - "anatomical structure formation involved in morphogenesis", - "Choanal atresia", - "Abnormal cerebral cortex morphology", - "anatomical structure development", - "male urethra", - "Abnormal vascular morphology", - "embryonic morphogenesis", - "Abnormal eye physiology", - "Abnormality of the lower limb", - "abnormal erythrocyte morphology", - "postcranial axial skeleton", - "Abnormal cellular phenotype", - "vertebral column", - "abnormal long bone morphology", - "paired limb/fin skeleton", - "morphogenesis of an epithelium", - "articular system", - "neural tube development", - "tube morphogenesis", - "innominate bone", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormally increased number of anatomical entity", - "abnormal blood cell morphology", - "subdivision of organism along appendicular axis", - "abnormal embryonic tissue morphology", - "abnormal myeloid cell morphology", - "Abnormality of the nervous system", - "respiratory tract", - "abnormal cell morphology", - "primary neural tube formation", - "neural tube formation", - "Abnormal small intestine morphology", - "abnormal secondary palate morphology", - "digestive system", - "abnormal neural tube closure", - "erythrocyte", - "telencephalon", - "Hydrocephalus", - "manual digit 1 plus metapodial segment", - "Abnormal vertebral morphology", - "Spina bifida", - "Abnormality of mental function", - "tissue", - "abnormally decreased number of cell", - "abnormal intestine morphology", - "abnormal vertebra morphology", - "abnormal anatomical entity topology in independent continuant", - "Abnormal myeloid cell morphology", - "palatine uvula", - "nervous system", - "morphogenesis of embryonic epithelium", - "Abnormality of the kidney", - "Abnormality of male external genitalia", - "limb segment", - "cerebral cortex", - "gray matter of forebrain", - "abnormal incomplete closing of the arch of centrum of vertebra", - "dorsum", - "roof of mouth", - "absent anatomical entity", - "central nervous system", - "circulatory organ", - "abnormal outflow part of left ventricle morphology", - "abnormality of male reproductive system physiology", - "glandular system", - "reflexive behavior", - "abnormal tube formation", - "Abnormality of chromosome stability", - "Abnormal blood vessel morphology", - "spinal cord", - "abnormal limb bone morphology", - "abnormal opening of the anatomical entity", - "abnormal number of anatomical enitites of type myeloid cell", - "Vertebral arch anomaly", - "Frontal bossing", - "axial skeleton plus cranial skeleton", - "gray matter of telencephalon", - "parasympathetic nervous system", - "prepuce of penis", - "vertebra", - "abnormality of anatomical entity physiology", - "artery", - "vasculature", - "Abnormal anus morphology", - "Abnormality of limb bone", - "Decreased head circumference", - "sense organ", - "subdivision of skeletal system", - "circulatory system", - "abnormally decreased number of anatomical entity in the multicellular organism", - "cardiovascular system", - "process", - "epithelium", - "abnormal neural tube morphology", - "Abnormal respiratory system physiology", - "abnormal bone of pectoral complex morphology", - "urethral opening", - "camera-type eye", - "shape longitudinal arch of pes", - "Abnormality of the upper limb", - "embryo development", - "anatomical projection", - "Abnormal reproductive system morphology", - "systemic arterial system", - "viscus", - "arterial blood vessel", - "Abnormal eye morphology", - "abnormal cardiovascular system morphology", - "abnormally formed anatomical entity in independent continuant", - "abnormal anterior segment of eyeball morphology", - "thoracic segment of trunk", - "umbilicus", - "vascular system", - "dorsal region element", - "Abnormality of the vasculature", - "abnormal cerebral hemisphere morphology", - "common carotid artery plus branches", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal cardiovascular system", - "abnormal common carotid artery plus branches morphology", - "quality", - "epithelial tube", - "abnormal digestive system morphology", - "Abnormal systemic arterial morphology", - "abnormal duodenum morphology", - "Abnormal cranial nerve physiology", - "nerve", - "peripheral nervous system", - "Abnormal neural tube morphology", - "paralysed anatomical entity", - "Abnormal pelvic girdle bone morphology", - "Clubbing", - "Upslanted palpebral fissure", - "forebrain", - "Eukaryota", - "ileum", - "abnormal synovial joint morphology", - "abnormal peripheral nervous system", - "aplasia or hypoplasia of uvea", - "future nervous system", - "increased reflex", - "forelimb", - "transudate", - "shape cornea", - "bone of free limb or fin", - "abnormal olfactory system morphology", - "Abnormal appendicular skeleton morphology", - "abnormal incomplete closing of the anatomical entity", - "pectoral appendage", - "bodily fluid", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormal limb long bone morphology", - "cranial nerve related reflex", - "Abnormal upper limb bone morphology", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal nervous system morphology", - "abnormal incomplete closing of the interatrial septum", - "forelimb zeugopod", - "multi-limb segment region", - "bone of jaw", - "organ", - "Abnormal cornea morphology", - "abnormal female reproductive system", - "abnormal nervous system morphology", - "vasculature of organ", - "Cranial nerve paralysis", - "abnormal cell", - "abnormal innominate bone morphology", - "bone element", - "digit 1", - "upper jaw region", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "left cardiac chamber", - "abnormal vascular system morphology", - "Abnormal foot morphology", - "visual system", - "thoracic segment organ", - "limb bone", - "cranial skeletal system", - "abnormal vertebral column morphology", - "organism subdivision", - "vestibulo-auditory system", - "absent germ cell", - "paired limb/fin", - "Recurrent infections", - "response to stimulus", - "brain gray matter", - "forelimb endochondral element", - "Abnormal curvature of the vertebral column", - "pectoral appendage skeleton", - "Conotruncal defect", - "abnormal limb", - "abnormal peripheral nervous system morphology", - "simple eye", - "abnormal forelimb morphology", - "Abnormal carotid artery morphology", - "skeletal element", - "abnormal bony vertebral centrum morphology", - "internal naris", - "non-connected functional system", - "abnormal forelimb zeugopod morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormality of multicellular organism height", - "Abnormal forearm bone morphology", - "abnormal forehead morphology", - "Abnormal form of the vertebral bodies", - "Aplasia/hypoplasia of the extremities", - "skeleton of digitopodium", - "skeleton of pectoral complex", - "abnormal systemic artery morphology", - "abnormal manual digit 5 morphology", - "Abnormality of the integument", - "vertebral centrum element", - "urethra", - "paired limb/fin segment", - "external soft tissue zone", - "Abnormal skeletal morphology", - "Tetralogy of Fallot", - "abnormal size of skull", - "Abnormality of the musculoskeletal system", - "abnormal development of anatomical entity", - "ulna", - "trunk region element", - "anatomical entity", - "pectoral complex", - "abnormal great vessel of heart morphology", - "abnormal midface morphology", - "abnormal appendicular skeleton morphology", - "immune system process", - "tunica fibrosa of eyeball", - "abnormal developmental process", - "bone of pectoral complex", - "forelimb skeleton", - "abdominal segment of trunk", - "digit", - "endoderm-derived structure", - "Abnormal respiratory system morphology", - "Abnormal morphology of ulna", - "urethral meatus", - "layer of muscle tissue", - "head bone", - "Abnormality of the skeletal system", - "increased biological_process", - "arm bone", - "appendage girdle complex", - "abnormally fused manual digit and anatomical entity", - "endochondral bone", - "abnormally decreased number of leukocyte", - "irregular bone", - "abnormal ulna morphology", - "arch of centrum of vertebra", - "abnormal musculoskeletal movement", - "Abnormality of the respiratory system", - "abnormal skeletal system", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "Abnormal pulmonary valve morphology", - "Abnormal hand morphology", - "abnormal aortic valve morphology", - "Tracheoesophageal fistula", - "abnormality of cranial nerve physiology", - "Abnormality of body height", - "Abnormal palate morphology", - "Abnormality of limb bone morphology", - "phalanx of pes", - "biological_process", - "nervous system development", - "abnormal heart layer morphology", - "Abnormal forearm morphology", - "Abnormality of the hypothalamus-pituitary axis", - "penis", - "abnormal phalanx of pes morphology", - "Morphological central nervous system abnormality", - "phalanx endochondral element", - "limb skeleton subdivision", - "decreased qualitatively pigmentation", - "abnormal ocular adnexa", - "Hydroureter", - "posterior nasal aperture", - "abnormally fused anatomical entity and digit", - "Neurodevelopmental abnormality", - "abnormal penis morphology", - "male urethral meatus", - "Abnormality of the female genitalia", - "abnormal testis morphology", - "Abnormal esophagus morphology", - "abnormal anterior uvea morphology", - "reproductive system", - "abnormal sensory perception of light stimulus", - "exocrine gland", - "abnormal male reproductive system morphology", - "entity", - "Abnormality of the curvature of the cornea", - "abnormally decreased functionality of the gonad", - "skeleton of manual digitopodium", - "axial skeletal system", - "decreased biological_process in multicellular organism", - "hypertrophic multicellular anatomical structure", - "Abnormal joint morphology", - "spermatogenesis", - "absent sperm", - "abnormal liver", - "abnormally fused anatomical entity and pedal digit", - "Aplasia/hypoplasia involving forearm bones", - "abnormality of nervous system physiology", - "abnormality of anatomical entity height", - "abnormal genitourinary system", - "Abnormality of connective tissue", - "aplasia or hypoplasia of eyeball of camera-type eye", - "independent continuant", - "abnormal orbital region", - "shape digit", - "curved anatomical entity", - "long bone", - "Abnormal spinal cord morphology", - "abnormal male reproductive system", - "Hyperpigmentation of the skin", - "epithelium development", - "manual digit 1 or 5", - "reproductive structure", - "obsolete cell", - "male reproductive organ", - "Umbilical hernia", - "abnormal reproductive system morphology", - "thoracic segment blood vessel", - "Abnormality of the gastrointestinal tract", - "Cognitive impairment", - "abnormal external genitalia", - "abnormal cornea morphology", - "Abnormal external genitalia", - "anterior region of body", - "Triphalangeal thumb", - "epithelial tube formation", - "abnormal pelvic girdle bone/zone morphology", - "skeleton of limb", - "multicellular organismal-level homeostasis", - "manus bone", - "nervous system cell part layer", - "skeleton", - "pelvic girdle region", - "individual digit of digitopodial skeleton", - "developing anatomical structure", - "Abnormal preputium morphology", - "integumental system", - "abnormal gamete", - "Abnormal nervous system physiology", - "anatomical structure", - "abnormally increased number of anatomical entity in the independent continuant", - "Morphological abnormality of the gastrointestinal tract", - "upper leg bone", - "Abnormality of the mouth", - "Abnormal penis morphology", - "lateral structure", - "limb", - "Abnormality of the hand", - "appendicular skeletal system", - "increased height of anatomical entity in independent continuant", - "germ cell", - "abnormality of cardiovascular system physiology", - "multicellular organism development", - "abnormal spermatogenesis", - "segment of manus", - "Joint dislocation", - "body proper", - "cellular process", - "Abnormal anterior eye segment morphology", - "abnormal connective tissue", - "aortic valve", - "abnormal eyeball of camera-type eye", - "testis", - "shape eyelid", - "craniocervical region", - "Abnormality of the genital system", - "Deviation of the hand or of fingers of the hand", - "paralysed cranial nerve", - "abnormal vasculature", - "nerve of head region", - "upper urinary tract", - "hindlimb endochondral element", - "abnormally increased number of brain ventricle in the independent continuant", - "delayed biological_process", - "skeletal system", - "Neoplasm", - "system process", - "manual digit 1 phalanx", - "Abnormal calvaria morphology", - "abnormal forelimb zeugopod bone", - "increased height of the anatomical entity", - "external male genitalia", - "upper eyelid", - "Abnormal ear physiology", - "Astigmatism", - "abnormal arm", - "decreased pigmentation in skin of body", - "abnormal small intestine morphology", - "Abnormal cerebral morphology", - "organ subunit", - "organ component layer", - "Ventricular septal defect", - "abnormality of immune system physiology", - "genitourinary system", - "multicellular organismal process", - "anterior segment of eyeball", - "cognition", - "subdivision of head", - "abnormal central nervous system morphology", - "Abnormal renal morphology", - "continuant", - "haploid cell", - "Abnormality of limbs", - "Abnormality of eye movement", - "abnormal alimentary part of gastrointestinal system morphology", - "material entity", - "Abnormal platelet count", - "abnormal head", - "asymmetrically curved cornea", - "face", - "abnormal craniocervical region", - "entire sense organ system", - "pelvic appendage skeleton", - "upper limb segment", - "Abnormal duodenum morphology", - "neural crest-derived structure", - "abdomen element", - "Abnormality of the orbital region", - "cranial neuron projection bundle", - "curvature anatomical entity", - "heart vasculature", - "arm", - "respiratory tube", - "ocular surface region", - "Abnormality of enteric ganglion morphology", - "disconnected anatomical group", - "drooping anatomical entity", - "presumptive structure", - "abnormal limb morphology", - "Abnormal facial shape", - "eyeball of camera-type eye", - "curved anatomical entity in independent continuant", - "Duodenal stenosis", - "musculoskeletal system", - "abnormal nerve", - "Abnormality of refraction", - "appendage", - "homeostasis of number of cells", - "embryo", - "Aganglionic megacolon", - "changed biological_process rate", - "blood cell", - "abnormal spinal cord morphology", - "Atypical behavior", - "Neural tube defect", - "abnormally decreased number of hematopoietic cell", - "tracheobronchial tree", - "protein-containing material entity", - "abnormal autopod region morphology", - "abnormal shape of cornea", - "radius endochondral element", - "Abnormal morphology of the radius", - "abnormal respiratory tube morphology", - "epithelial tube morphogenesis", - "alimentary part of gastrointestinal system", - "abnormal platelet", - "anatomical cluster", - "Abnormality of corneal shape", - "appendicular skeleton", - "Abnormality of blood and blood-forming tissues", - "Abnormal axial skeleton morphology", - "Abnormality of thrombocytes", - "facial skeleton", - "Aplasia/Hypoplasia of the cerebrum", - "abnormal male reproductive organ morphology", - "male organism", - "regional part of nervous system", - "shape anatomical entity", - "digit 5 plus metapodial segment", - "tube closure", - "Abnormal heart valve physiology", - "forelimb bone", - "Abnormal vestibular function", - "abnormal head morphology", - "head", - "oral cavity", - "abnormal respiratory system", - "herniated abdominal wall", - "male gamete", - "Abnormal size of the palpebral fissures", - "abnormality of respiratory system physiology", - "ectoderm-derived structure", - "Abnormal long bone morphology", - "systemic artery", - "abnormal size of head", - "manual digit 5 plus metapodial segment", - "structure with developmental contribution from neural crest", - "anatomical structure morphogenesis", - "orbital region", - "trachea", - "mouth", - "decreased size of the eyeball of camera-type eye", - "Abnormality of the digestive system", - "abnormal cornea, curved", - "abnormal tracheobronchial tree morphology", - "proximo-distal subdivision of respiratory tract", - "chordate embryonic development", - "Short long bone", - "immaterial anatomical entity", - "endochondral element", - "abnormal amniotic fluid", - "Abnormality of the head", - "phenotype", - "anus", - "abnormal digit morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal forebrain morphology", - "erythroid lineage cell", - "pulmonary valve", - "flat bone", - "hematopoietic system", - "Abnormality of body weight", - "subdivision of tube", - "skin of body", - "multi-tissue structure", - "abnormal biological_process", - "abnormal pigmentation", - "lower respiratory tract", - "abnormality of renal system physiology", - "gray matter", - "abnormal ocular adnexa morphology", - "Abnormality of the eye", - "abnormal growth", - "respiratory system", - "changed biological_process rate in independent continuant", - "gamete", - "Neurodevelopmental delay", - "late embryo", - "abnormal external male genitalia", - "digestive tract", - "abnormal ureter", - "abnormal palpebral fissure", - "Abnormality of the male genitalia", - "gland", - "abnormal cardiac atrium morphology in the heart", - "abnormal postcranial axial skeleton morphology", - "abnormal systemic arterial system morphology", - "abnormal shape of continuant", - "neurocranium bone", - "pelvic girdle bone/zone", - "Abnormal peripheral nerve morphology by anatomical site", - "lower limb segment", - "limb endochondral element", - "zeugopod", - "abnormal esophagus morphology", - "behavior", - "anatomical conduit", - "bone element hypoplasia in face", - "blood vasculature", - "cornea", - "increased pigmentation", - "abnormal hematopoietic system", - "anatomical collection", - "embryo development ending in birth or egg hatching", - "subdivision of organism along main body axis", - "glans penis", - "abnormal respiratory system morphology", - "subdivision of trunk", - "abnormally decreased number of anatomical entity in the blood", - "Abnormal morphology of female internal genitalia", - "curvature anatomical entity in independent continuant", - "Phenotypic abnormality", - "heart right ventricle", - "cellular organisms", - "Abnormality of the testis size", - "increased length of the anatomical entity", - "shape anatomical entity in independent continuant", - "Absent testis", - "system", - "Aplasia/Hypoplasia involving bones of the skull", - "abnormal digestive system", - "subdivision of digestive tract", - "abnormal heart morphology", - "tube development", - "heart left ventricle", - "aplasia or hypoplasia of manual digit", - "Neoplasm by anatomical site", - "tube", - "mandible", - "zeugopodial skeleton", - "pedal digit digitopodial skeleton", - "abnormal anatomical entity", - "abnormal limb bone", - "abnormal blood vessel morphology", - "non-material anatomical boundary", - "leg bone", - "Abnormality of digestive system morphology", - "abnormal head bone morphology", - "abnormal leg", - "abnormal artery morphology", - "musculoskeletal movement", - "digit 1 or 5", - "Intellectual disability", - "abnormal vestibulo-ocular reflex", - "Decreased anatomical entity mass", - "abnormal small intestine", - "abnormal penis", - "Abnormal cell morphology", - "thoracic cavity element", - "abnormal phenotype by ontology source", - "multicellular anatomical structure", - "increased biological_process in independent continuant", - "manual digitopodium bone", - "abnormal skeletal system morphology", - "abnormally protruding anatomical entity", - "absent sperm in the independent continuant", - "occurrent", - "clavate digit", - "endocrine gland", - "abnormal incomplete closing of the interventricular septum", - "Abnormal bone ossification", - "Abnormal tracheobronchial morphology", - "Abnormal tracheal morphology", - "abnormal alimentary part of gastrointestinal system", - "tube formation", - "ulna endochondral element", - "autopod region", - "compound organ", - "nose", - "Abnormality of the genitourinary system", - "deviation of manual digit", - "3-D shape anatomical entity in independent continuant", - "digestive system element", - "ear", - "aplasia or hypoplasia of iris", - "Abnormality of the ocular adnexa", - "vessel", - "forelimb long bone", - "cell", - "Spinal dysraphism", - "phenotype by ontology source", - "Abnormality of enteric nervous system morphology", - "gamete generation", - "shape palpebral fissure", - "tissue development", - "Localized skin lesion", - "hemolymphoid system", - "material anatomical entity", - "Short forearm", - "Abnormality of cardiovascular system morphology", - "Hematological neoplasm", - "abnormally fused digit and digit", - "external genitalia", - "abnormal roof of mouth morphology", - "abnormal lens of camera-type eye morphology", - "abnormal face", - "vertebral element", - "Myelodysplasia", - "mesoderm-derived structure", - "increased size of the brain ventricle", - "Anemia of inadequate production", - "multicellular organism", - ], - "has_phenotype_count": 106, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0007600", - "category": "biolink:Disease", - "name": "primary Fanconi syndrome", - "full_name": None, - "deprecated": None, - "description": "A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.", - "xref": ["GARD:9118", "NCIT:C123229", "Orphanet:3337"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": ["FRTS1", "Fanconi renotubular syndrome 1", "primary Fanconi renotubular syndrome"], - "uri": None, - "iri": None, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0002749", - "HP:0001324", - "HP:0000117", - "HP:0001510", - "HP:0003774", - "HP:0002150", - "HP:0001944", - "HP:0002206", - "HP:0001943", - "HP:0012622", - "HP:0012606", - "HP:0004912", - "HP:0003537", - "HP:0003234", - "HP:0003081", - "HP:0002900", - "HP:0002659", - "HP:0002653", - "HP:0002148", - "HP:0001824", - "HP:0032943", - "HP:0004918", - "HP:0004910", - "HP:0003646", - "HP:0003149", - "HP:0003126", - "HP:0003076", - "HP:0002909", - "HP:0002049", - ], - "has_phenotype_label": [ - "Osteomalacia", - "Muscle weakness", - "Renal phosphate wasting", - "Growth delay", - "Stage 5 chronic kidney disease", - "Hypercalciuria", - "Dehydration", - "Pulmonary fibrosis", - "Hypoglycemia", - "Chronic kidney disease", - "Renal sodium wasting", - "Hypophosphatemic rickets", - "Hypouricemia", - "Decreased plasma carnitine", - "Increased urinary potassium", - "Hypokalemia", - "Increased susceptibility to fractures", - "Bone pain", - "Hypophosphatemia", - "Weight loss", - "Abnormal urine pH", - "Hyperchloremic metabolic acidosis", - "Bicarbonate-wasting renal tubular acidosis", - "Bicarbonaturia", - "Hyperuricosuria", - "Low-molecular-weight proteinuria", - "Glycosuria", - "Generalized aminoaciduria", - "Proximal renal tubular acidosis", - ], - "has_phenotype_closure": [ - "UPHENO:0046286", - "UPHENO:0068040", - "UPHENO:0051930", - "HP:0001992", - "HP:0031980", - "UPHENO:0068495", - "UPHENO:0080658", - "HP:0003076", - "UPHENO:0051635", - "UPHENO:0068058", - "CHEBI:37622", - "CHEBI:50047", - "CHEBI:33709", - "UPHENO:0068565", - "UPHENO:0068247", - "CHEBI:16541", - "HP:0012610", - "UPHENO:0068024", - "UPHENO:0051688", - "CHEBI:17544", - "UPHENO:0051714", - "UPHENO:0051659", - "UPHENO:0084542", - "UPHENO:0068491", - "UPHENO:0078554", - "UPHENO:0068036", - "HP:0011279", - "HP:0003646", - "HP:0033354", - "UBERON:0000483", - "UBERON:0001231", - "UPHENO:0066927", - "HP:0000124", - "UBERON:0000479", - "UBERON:0003914", - "UBERON:0004819", - "UBERON:0006555", - "UBERON:0009773", - "UBERON:0004211", - "HP:0001947", - "UPHENO:0066943", - "UBERON:0001285", - "UPHENO:0068169", - "UPHENO:0082543", - "HP:0004918", - "UPHENO:0082538", - "UPHENO:0082539", - "HP:0001942", - "HP:0032943", - "HP:0004323", - "UPHENO:0010795", - "UPHENO:0082794", - "UPHENO:0010763", - "UPHENO:0082761", - "UPHENO:0054299", - "HP:0001824", - "HP:0012531", - "HP:0002653", - "CHEBI:24835", - "UBERON:0007684", - "HP:0010930", - "CHEBI:37247", - "HP:0001995", - "CHEBI:36916", - "CHEBI:36914", - "CHEBI:29103", - "HP:0010929", - "UPHENO:0051958", - "HP:0002900", - "UPHENO:0051645", - "UPHENO:0034438", - "CHEBI:36915", - "CHEBI:23906", - "CHEBI:60242", - "CHEBI:25414", - "HP:0003081", - "UPHENO:0068350", - "UPHENO:0051739", - "UPHENO:0046283", - "HP:0012598", - "UPHENO:0068296", - "UPHENO:0051849", - "GO:0032787", - "GO:0005622", - "GO:0043226", - "GO:0005575", - "GO:0006575", - "GO:0006082", - "UPHENO:0051777", - "HP:0025142", - "GO:0006629", - "CHEBI:64709", - "CHEBI:25699", - "HP:0004325", - "GO:0043227", - "UPHENO:0050484", - "CHEBI:35605", - "CHEBI:35757", - "CHEBI:36586", - "HP:0003287", - "UPHENO:0084537", - "UPHENO:0084472", - "HP:0003119", - "UPHENO:0051887", - "HP:0004359", - "UPHENO:0034149", - "UPHENO:0078646", - "CHEBI:22860", - "GO:0044255", - "CHEBI:35284", - "HP:0002795", - "GO:0072521", - "CHEBI:25384", - "UPHENO:0002816", - "UPHENO:0049723", - "UPHENO:0034319", - "CHEBI:17126", - "CHEBI:35381", - "GO:0006577", - "GO:0043436", - "CHEBI:25741", - "HP:0012103", - "GO:0040007", - "HP:0004360", - "UPHENO:0001002", - "CHEBI:24833", - "UPHENO:0086908", - "CHEBI:33833", - "GO:0019752", - "UPHENO:0068110", - "CL:0000000", - "GO:0005623", - "HP:0004354", - "HP:0011843", - "CHEBI:35571", - "CHEBI:25810", - "UPHENO:0034199", - "GO:0046483", - "GO:0034641", - "CHEBI:24651", - "UBERON:0005172", - "UPHENO:0068251", - "CHEBI:26217", - "CHEBI:33671", - "UBERON:0005178", - "CHEBI:24532", - "UPHENO:0051588", - "HP:0010967", - "CHEBI:35552", - "CHEBI:33318", - "CHEBI:38101", - "CHEBI:33575", - "GO:0009987", - "HP:0004352", - "UPHENO:0049748", - "UPHENO:0068064", - "CHEBI:25806", - "CHEBI:18282", - "CHEBI:25367", - "UPHENO:0066781", - "UPHENO:0077826", - "CHEBI:35584", - "UPHENO:0050121", - "UPHENO:0067999", - "HP:0004369", - "CHEBI:33659", - "UPHENO:0078616", - "GO:0048878", - "HP:0012603", - "CHEBI:33595", - "GO:0009112", - "CHEBI:72695", - "CHEBI:33635", - "CHEBI:5686", - "CHEBI:35604", - "HP:0010996", - "CHEBI:37175", - "CHEBI:33504", - "UBERON:0000915", - "UPHENO:0079822", - "UBERON:0013702", - "UPHENO:0068538", - "UPHENO:0034351", - "UPHENO:0051736", - "CHEBI:33259", - "GO:0006631", - "UPHENO:0034217", - "CHEBI:33238", - "HP:0012211", - "CHEBI:24867", - "HP:0002148", - "UPHENO:0066739", - "HP:0000079", - "HP:0002206", - "UPHENO:0051709", - "HP:0002748", - "CHEBI:51143", - "HP:0004912", - "UBERON:0004111", - "HP:0001943", - "UPHENO:0034253", - "UPHENO:0081546", - "CHEBI:36358", - "GO:1901360", - "UPHENO:0046356", - "GO:0043231", - "PR:000050567", - "CHEBI:18133", - "HP:0004910", - "UPHENO:0051704", - "CHEBI:15693", - "UPHENO:0050791", - "UBERON:0000025", - "CHEBI:33832", - "HP:0025354", - "CHEBI:33285", - "CHEBI:17234", - "UBERON:0000178", - "HP:0003355", - "UPHENO:0004459", - "HP:0430071", - "UBERON:0002193", - "HP:0003126", - "UPHENO:0049873", - "GO:0110165", - "CHEBI:78616", - "HP:0001941", - "CHEBI:50860", - "UPHENO:0076286", - "CHEBI:36963", - "UPHENO:0051804", - "CHEBI:32988", - "CHEBI:36962", - "UBERON:0000179", - "HP:0001324", - "UBERON:0002390", - "GO:0071704", - "HP:0011014", - "HP:0011015", - "UPHENO:0050433", - "HP:0001507", - "HP:0001871", - "UPHENO:0051766", - "CHEBI:33917", - "CHEBI:35366", - "UPHENO:0015280", - "GO:0006144", - "CHEBI:36587", - "CHEBI:36357", - "UBERON:0002048", - "CHEBI:38166", - "CHEBI:36360", - "HP:0000119", - "UPHENO:0004536", - "UPHENO:0054261", - "UBERON:0000171", - "GO:0044281", - "CHEBI:33250", - "CHEBI:16646", - "HP:0000077", - "UBERON:0001474", - "UPHENO:0076299", - "CHEBI:26708", - "UPHENO:0051898", - "UBERON:0001005", - "GO:0044238", - "GO:0006807", - "UPHENO:0019970", - "CHEBI:25213", - "UBERON:0015212", - "HP:0012072", - "UBERON:0001558", - "UBERON:0034925", - "UPHENO:0082544", - "CHEBI:33273", - "UBERON:0000065", - "UPHENO:0076294", - "UPHENO:0020584", - "CHEBI:27369", - "UBERON:0000468", - "HP:0012337", - "HP:0002157", - "UPHENO:0082542", - "HP:0002086", - "GO:1901564", - "HP:0010966", - "CHEBI:33521", - "UPHENO:0002448", - "HP:0001944", - "UPHENO:0068054", - "UBERON:0004120", - "UPHENO:0068442", - "CHEBI:26082", - "UPHENO:0050619", - "UBERON:0013522", - "GO:0043229", - "HP:0001939", - "CHEBI:27171", - "UPHENO:0051670", - "UPHENO:0034276", - "GO:0044237", - "GO:0065008", - "UPHENO:0051186", - "UPHENO:0046344", - "UPHENO:0086132", - "UPHENO:0052116", - "HP:0002909", - "HP:0002088", - "UPHENO:0068134", - "UPHENO:0001003", - "UBERON:0000463", - "CHEBI:33579", - "UPHENO:0078592", - "UPHENO:0051619", - "HP:0100529", - "CHEBI:26469", - "UPHENO:0086172", - "UPHENO:0081548", - "UPHENO:0051866", - "UPHENO:0079536", - "HP:0002150", - "UBERON:0000061", - "UPHENO:0076289", - "UPHENO:0048707", - "UPHENO:0049587", - "UBERON:0005090", - "HP:0011042", - "UPHENO:0051712", - "GO:0005737", - "CHEBI:83821", - "UPHENO:0068089", - "UBERON:0009569", - "UBERON:0011676", - "UBERON:0004119", - "GO:0050878", - "GO:0006139", - "UPHENO:0086128", - "UPHENO:0049709", - "HP:0011017", - "UBERON:0002113", - "HP:0033127", - "GO:0009437", - "HP:0040156", - "UPHENO:0020748", - "UBERON:0000170", - "UBERON:0013701", - "UBERON:0011143", - "UBERON:0005177", - "CHEBI:33245", - "UPHENO:0002411", - "HP:0003537", - "GO:0005739", - "HP:0003774", - "CHEBI:29067", - "UPHENO:0081440", - "CHEBI:18059", - "HP:0000083", - "CHEBI:35281", - "HP:0010935", - "UBERON:0002417", - "GO:0055062", - "UPHENO:0080659", - "HP:0011280", - "HP:0012591", - "UBERON:0002100", - "CHEBI:35570", - "UBERON:0000916", - "UBERON:0002075", - "GO:0098771", - "CHEBI:15841", - "UPHENO:0049628", - "HP:0004364", - "PATO:0000001", - "UPHENO:0049874", - "UPHENO:0050116", - "UPHENO:0000543", - "CHEBI:33839", - "GO:0065007", - "GO:0055086", - "UBERON:0000383", - "CHEBI:33674", - "UPHENO:0000541", - "BFO:0000003", - "HP:0006530", - "HP:0011032", - "UPHENO:0081544", - "UPHENO:0077821", - "UPHENO:0002964", - "CHEBI:24431", - "UBERON:0000072", - "CHEBI:35406", - "CHEBI:33582", - "GO:0001503", - "HP:0003234", - "BFO:0000002", - "UPHENO:0051801", - "GO:0008152", - "UPHENO:0049904", - "UPHENO:0080555", - "UPHENO:0002642", - "HP:0020129", - "UBERON:0000064", - "UPHENO:0051900", - "UPHENO:0001005", - "HP:0011842", - "CHEBI:22984", - "CHEBI:33304", - "CHEBI:28868", - "HP:0012599", - "CHEBI:33655", - "GO:0042593", - "HP:0003149", - "UBERON:0000467", - "HP:0011277", - "UBERON:0000174", - "BFO:0000040", - "UPHENO:0049618", - "CHEBI:26020", - "UBERON:0006314", - "UPHENO:0051847", - "CHEBI:22563", - "UPHENO:0046348", - "HP:0012252", - "CHEBI:25696", - "UPHENO:0051686", - "UPHENO:0051960", - "UPHENO:0080556", - "CHEBI:26079", - "UBERON:0001015", - "CHEBI:23367", - "HP:0011804", - "UPHENO:0052008", - "HP:0003330", - "HP:0003110", - "UPHENO:0046284", - "CHEBI:24870", - "UPHENO:0051608", - "CHEBI:26216", - "CHEBI:33559", - "UPHENO:0034248", - "HP:0003111", - "CHEBI:36359", - "UPHENO:0079824", - "GO:0055080", - "UPHENO:0050539", - "CHEBI:33302", - "HP:0032180", - "UPHENO:0006889", - "UBERON:0001630", - "UPHENO:0087433", - "UPHENO:0002832", - "UPHENO:0051668", - "UBERON:0001008", - "UBERON:8450002", - "UPHENO:0002536", - "UBERON:0001434", - "UPHENO:0051763", - "UPHENO:0068091", - "CHEBI:37577", - "GO:0042592", - "CHEBI:51151", - "UPHENO:0068144", - "CHEBI:33675", - "CHEBI:33241", - "GO:0033500", - "UPHENO:0051678", - "UPHENO:0002320", - "HP:0000117", - "GO:0006725", - "UBERON:0004765", - "UBERON:0000475", - "UBERON:0001004", - "UBERON:0000062", - "UPHENO:0002803", - "CHEBI:26401", - "UPHENO:0078555", - "HP:0001510", - "UPHENO:0082834", - "CHEBI:35875", - "UBERON:0000489", - "UPHENO:0081550", - "GO:0005975", - "CHEBI:35568", - "CHEBI:16670", - "UPHENO:0075696", - "UBERON:0002204", - "UPHENO:0068079", - "UPHENO:0084541", - "GO:0008150", - "UBERON:0005173", - "HP:0002749", - "UBERON:0003103", - "CHEBI:22314", - "UPHENO:0082835", - "HP:0004349", - "UPHENO:0084653", - "BFO:0000001", - "UPHENO:0034391", - "CHEBI:22313", - "UBERON:0000465", - "UPHENO:0002332", - "UPHENO:0081547", - "HP:0003011", - "UPHENO:0050080", - "GO:0050801", - "GO:0032501", - "UPHENO:0068102", - "CHEBI:35352", - "HP:0000924", - "UBERON:0001062", - "UBERON:0001088", - "HP:0002659", - "CHEBI:27226", - "HP:0000001", - "UPHENO:0075902", - "UPHENO:0078640", - "HP:0011013", - "UBERON:0004122", - "HP:0012622", - "UBERON:0011216", - "UPHENO:0050342", - "HP:0004348", - "HP:0011849", - "HP:0000093", - "CHEBI:33692", - "UPHENO:0002442", - "CHEBI:33608", - "UBERON:0010000", - "HP:0002049", - "BFO:0000020", - "UBERON:0005181", - "CHEBI:33296", - "UPHENO:0076692", - "HP:0000118", - "UPHENO:0082875", - "UPHENO:0001001", - "UPHENO:0051937", - "HP:0012606", - "UPHENO:0084654", - "BFO:0000004", - "HP:6000531", - "UPHENO:0051640", - "CHEBI:35573", - "HP:0010932", - "UPHENO:0050113", - "BFO:0000015", - "UPHENO:0024906", - "CHEBI:33672", - "CHEBI:33256", - "CHEBI:33636", - "UPHENO:0076703", - ], - "has_phenotype_closure_label": [ - "abnormal independent continuant carboxylic acid level", - "abnormal urine amino acid level", - "Aminoaciduria", - "increased level of carboxylic acid in independent continuant", - "increased level of amino acid in urine", - "increased level of monosaccharide in independent continuant", - "Glycosuria", - "increased level of monosaccharide in urine", - "increased level of glucose in independent continuant", - "Abnormal urine protein level", - "increased level of protein polypeptide chain in independent continuant", - "primary amide", - "organic amino compound", - "macromolecule", - "abnormal independent continuant amino acid level", - "Proteinuria", - "amide", - "protein polypeptide chain", - "abnormal independent continuant protein polypeptide chain level", - "increased level of uric acid in independent continuant", - "increased level of uric acid in urine", - "Abnormality of urinary uric acid level", - "increased level of organic molecular entity in independent continuant", - "abnormal hydrogencarbonate level", - "Bicarbonaturia", - "Abnormal urinary organic compound level", - "abnormal urine hydrogencarbonate level", - "hydrogencarbonate", - "renal tubule", - "uriniferous tubule", - "nephron", - "Low-molecular-weight proteinuria", - "kidney epithelium", - "Bicarbonate-wasting renal tubular acidosis", - "excretory tube", - "Renal tubular dysfunction", - "tissue", - "abnormally decreased functionality of the nephron tubule", - "Hyperchloremic acidosis", - "increased bodily fluid acid level", - "increased bodily fluid role level", - "Hyperchloremic metabolic acidosis", - "decreased multicellular organism mass", - "Weight loss", - "abnormality of multicellular organism mass", - "Decreased anatomical entity mass", - "Decreased body weight", - "anatomical entity dysfunction in independent continuant", - "decreased anatomical entity mass", - "Pain", - "Increased susceptibility to fractures", - "abnormality of musculoskeletal system physiology", - "alkali metal molecular entity", - "abnormal independent continuant potassium(1+) level", - "potassium molecular entity", - "monoatomic cation homeostasis", - "Abnormal blood potassium concentration", - "abnormal urine glucose level", - "inorganic cation", - "monoatomic cation", - "decreased level of potassium atom in independent continuant", - "Abnormal blood cation concentration", - "abnormal blood potassium(1+) level", - "cation", - "inorganic ion", - "metal cation", - "monoatomic monocation", - "Abnormal blood monovalent inorganic cation concentration", - "abnormal monoatomic cation homeostasis", - "abnormal urine organic anion level", - "abnormal independent continuant potassium atom level", - "increased level of potassium atom in urine", - "Increased urinary potassium", - "Abnormal urine potassium concentration", - "potassium atom", - "abnormal carboxylic acid metabolic process", - "Abnormality of mitochondrial metabolism", - "abnormal acid bodily fluid level", - "abnormal carnitine metabolic process", - "abnormal independent continuant carnitine level", - "Abnormal circulating fatty-acid anion concentration", - "Elevated urinary carboxylic acid", - "abnormal fatty acid metabolic process", - "inorganic molecular entity", - "amino-acid betaine", - "cellular anatomical entity", - "abnormal acid independent continuant level", - "lipid metabolic process", - "abnormal cellular_component", - "abnormal amino acid derivative level", - "organelle", - "Abnormal circulating lipid concentration", - "excretory system", - "abnormal lipid metabolic process", - "Growth abnormality", - "amino-acid betaine metabolic process", - "Abnormality of the mitochondrion", - "abnormal potassium atom level", - "Abnormality of fluid regulation", - "mitochondrion", - "Abnormal circulating fatty-acid concentration", - "All", - "intracellular organelle", - "abnormal blood carnitine level", - "oxoacid", - "increased independent continuant acid level", - "organic oxo compound", - "cytoplasm", - "decreased level of carnitine in blood", - "nephron tubule", - "increased level of chemical entity in bodily fluid", - "carbon oxoacid", - "abnormal sodium atom level", - "organic acid metabolic process", - "oxoanion", - "increased level of hydrogencarbonate in urine", - "obsolete cellular nitrogen compound metabolic process", - "increased level of chemical entity in blood", - "hydrogen molecular entity", - "intracellular anatomical structure", - "increased level of amino acid in independent continuant", - "cellular process", - "imidazopyrimidine", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal independent continuant hydrogencarbonate level", - "Azotemia", - "organonitrogen compound metabolic process", - "s-block molecular entity", - "hydrides", - "Decreased circulating purine concentration", - "carboxylic acid", - "nucleobase", - "abnormal purine nucleobase metabolic process", - "cellular modified amino acid metabolic process", - "nucleobase metabolic process", - "purine-containing compound metabolic process", - "cyclic compound", - "abnormal urine sodium atom level", - "organic molecule", - "organic heterobicyclic compound", - "mancude organic heterocyclic parent", - "aromatic compound", - "organonitrogen heterocyclic compound", - "increased level of hydrogencarbonate in independent continuant", - "organic heteropolycyclic compound", - "increased level of potassium atom in independent continuant", - "heteroarene", - "phenotype by ontology source", - "excreta", - "cell", - "cellular metabolic process", - "monocarboxylic acid anion", - "heterobicyclic compound", - "abnormal blood nitrogen molecular entity level", - "polyatomic entity", - "ion", - "abnormal nitrogen compound metabolic process", - "abnormal anatomical entity mass density", - "decreased level of uric acid in independent continuant", - "abnormal small molecule metabolic process", - "zwitterion", - "organic mancude parent", - "molecule", - "mancude ring", - "fatty acid metabolic process", - "increased level of calcium atom in independent continuant", - "abnormal independent continuant calcium atom level", - "organonitrogen compound", - "Abnormal urine phosphate concentration", - "thoracic segment organ", - "carboxylic acid metabolic process", - "mancude organic heterobicyclic parent", - "abnormality of anatomical entity mass", - "bone element", - "abnormal cell", - "heterocyclic compound", - "organic cyclic compound", - "Decreased multicellular organism mass", - "organic hydride", - "Proximal renal tubular acidosis", - "abnormal independent continuant uric acid level", - "purine", - "organic heterocyclic compound", - "organic aromatic compound", - "dipolar compound", - "elemental potassium", - "anatomical conduit", - "Hypophosphatemia", - "polycyclic compound", - "onium betaine", - "heteropolycyclic compound", - "Abnormality of urine bicarbonate level", - "Abnormal blood ion concentration", - "abnormal blood phosphate level", - "Abnormality of body weight", - "abnormal independent continuant monoatomic ion level", - "decreased level of phosphate in blood", - "monocarboxylic acid", - "decreased level of chemical entity", - "abnormal independent continuant organic anion level", - "decreased role blood level", - "phosphate ion homeostasis", - "increased independent continuant role level", - "decreased level of chemical entity in blood", - "monoatomic ion", - "Rickets", - "endoderm-derived structure", - "cellular lipid metabolic process", - "decreased level of chemical entity in independent continuant", - "abnormal urine potassium atom level", - "haemolymphatic fluid", - "hematopoietic system", - "blood", - "abnormal skeletal system morphology", - "abnormal independent continuant carbohydrate level", - "Abnormal cellular physiology", - "abnormal biological_process", - "lower respiratory tract", - "glucose", - "aldohexose", - "bodily fluid", - "abnormal primary metabolic process", - "abnormal independent continuant glucose level", - "amino acid derivative", - "decreased level of uric acid in blood", - "decreased role independent continuant level", - "organic substance metabolic process", - "abnormal blood chemical entity level", - "abnormal nucleobase metabolic process", - "hemolymphoid system", - "fatty acid", - "Abnormal urine sodium concentration", - "Abnormal urine carboxylic acid level", - "abnormal blood glucose level", - "biological_process", - "protein-containing material entity", - "purine nucleobase metabolic process", - "Abnormality of the musculoskeletal system", - "Hypophosphatemic rickets", - "anatomical system", - "Abnormal glucose homeostasis", - "organ", - "heteroorganic entity", - "Abnormal circulating nitrogen compound concentration", - "Abnormal blood phosphate concentration", - "monosaccharide", - "increased level of nitrogen molecular entity in blood", - "Abnormal circulating metabolite concentration", - "hydroxides", - "chemical homeostasis", - "increased level of protein polypeptide chain in urine", - "decreased muscle organ strength", - "abnormal role bodily fluid level", - "Abnormal blood glucose concentration", - "nephron epithelium", - "Abnormal circulating organic compound concentration", - "mesoderm-derived structure", - "increased level of purines in independent continuant", - "abnormality of respiratory system physiology", - "Abnormal circulating nucleobase concentration", - "Generalized aminoaciduria", - "abnormal urine calcium atom level", - "abnormal carbohydrate metabolic process", - "p-block molecular entity", - "obsolete heterocycle metabolic process", - "Muscle weakness", - "organic molecular entity", - "intracellular membrane-bounded organelle", - "abnormal blood potassium atom level", - "Renal sodium wasting", - "abdominal segment element", - "abnormal glucose homeostasis", - "abnormal chemical homeostasis", - "proximo-distal subdivision of respiratory tract", - "lung fibrosis", - "Abnormal lung morphology", - "subdivision of tube", - "elemental molecular entity", - "respiratory tract", - "oxide", - "abnormal monocarboxylic acid metabolic process", - "obsolete nitrogen compound metabolic process", - "urine", - "Abnormal renal physiology", - "abnormal growth", - "respiratory system", - "Abnormality of acid-base homeostasis", - "oxygen molecular entity", - "anatomical collection", - "independent continuant", - "abnormal independent continuant chemical entity level", - "Abnormal respiratory system morphology", - "atom", - "lung", - "amino acid", - "anion", - "abnormal skeletal system", - "regulation of body fluid levels", - "Abnormality of the respiratory system", - "sodium atom", - "abnormal cellular process", - "abnormal lung morphology", - "abnormal phenotype by ontology source", - "Abnormality of the kidney", - "thoracic cavity element", - "increased level of organic acid in independent continuant", - "abnormally decreased functionality of the anatomical entity", - "skeletal system", - "upper urinary tract", - "Pulmonary fibrosis", - "abnormal amino-acid betaine level", - "epithelium", - "hexose", - "Decreased anatomical entity mass density", - "Abnormal respiratory system physiology", - "nitrogen molecular entity", - "organochalcogen compound", - "abnormal anatomical entity morphology in the independent continuant", - "polypeptide", - "abnormal respiratory system", - "small molecule metabolic process", - "renal system", - "Dehydration", - "organ system subdivision", - "process", - "carboxamide", - "biological regulation", - "abnormal carbohydrate homeostasis", - "lateral structure", - "abnormal regulation of body fluid levels", - "abnormal cellular metabolic process", - "carbohydrate", - "homeostatic process", - "fatty acid anion", - "abnormal role urine level", - "increased level of organic acid in urine", - "Renal insufficiency", - "Abnormal urinary electrolyte concentration", - "increased level of chemical entity in urine", - "tube", - "aldose", - "carbohydrate homeostasis", - "increased level of chemical entity", - "kidney", - "Abnormality of urine calcium concentration", - "monoatomic entity", - "Organic aciduria", - "decreased level of potassium atom in blood", - "Chronic kidney disease", - "Stage 5 chronic kidney disease", - "polyatomic ion", - "purines", - "calcium atom", - "Hypokalemia", - "specifically dependent continuant", - "abnormal role independent continuant level", - "anatomical structure", - "Abnormality of the urinary system", - "Abnormality of blood and blood-forming tissues", - "peptide", - "Renal tubular acidosis", - "thoracic segment of trunk", - "Hypercalciuria", - "Decreased bone element mass density", - "abnormality of renal system physiology", - "organism subdivision", - "body proper", - "glucose homeostasis", - "decreased anatomical entity strength", - "Abnormal muscle physiology", - "abnormality of kidney physiology", - "s-block element atom", - "chalcogen molecular entity", - "cavitated compound organ", - "abnormal kidney", - "growth", - "Abnormality of the upper urinary tract", - "main body axis", - "alkali metal cation", - "abnormal role blood level", - "organic anion", - "Abnormal musculoskeletal physiology", - "abnormal independent continuant nitrogen molecular entity level", - "pair of lungs", - "Abnormal circulating carboxylic acid concentration", - "decreased level of carnitine in independent continuant", - "organic fundamental parent", - "alkali metal atom", - "abnormal homeostatic process", - "alkaline earth metal atom", - "Abnormal homeostasis", - "abnormal musculature", - "subdivision of trunk", - "abdomen element", - "Abnormal bone ossification", - "monocarboxylic acid metabolic process", - "carbohydrate metabolic process", - "Hypoglycemia", - "compound organ", - "Hypouricemia", - "primary metabolic process", - "ossification", - "Abnormal urine pH", - "abnormal anatomical entity morphology", - "lipid", - "decreased level of phosphate in independent continuant", - "carbohydrates and carbohydrate derivatives", - "muscle organ", - "increased level of calcium atom in urine", - "Abnormality of urine homeostasis", - "increased level of carboxylic acid in urine", - "multicellular organismal process", - "skeletal element", - "pnictogen molecular entity", - "Constitutional symptom", - "abnormal multicellular organism chemical entity level", - "carbon group molecular entity", - "Abnormality of metabolism/homeostasis", - "decreased level of purines", - "genitourinary system", - "abnormal independent continuant phosphate level", - "increased level of chemical entity in independent continuant", - "abnormal phosphate level", - "delayed growth", - "chemical entity", - "obsolete cellular aromatic compound metabolic process", - "abnormal urine uric acid level", - "bicyclic compound", - "phosphorus molecular entity", - "Abnormality of the skeletal system", - "abdominal segment of trunk", - "carbon oxoanion", - "abnormal bone element mass density", - "heterocyclic organic fundamental parent", - "Abnormality of bone mineral density", - "oxoacid derivative", - "main group molecular entity", - "abnormal genitourinary system", - "Abnormal circulating carnitine concentration", - "Abnormal bone structure", - "phosphate", - "Acidosis", - "delayed biological_process", - "Abnormal circulating carbohydrate concentration", - "phosphorus oxoacids and derivatives", - "organ part", - "Abnormality of the urinary system physiology", - "organic acid", - "Hyperuricosuria", - "viscus", - "heteroatomic molecular entity", - "occurrent", - "phosphorus oxoacid derivative", - "phosphoric acid derivative", - "musculature", - "oxopurine", - "Decreased plasma carnitine", - "abnormal chemical entity level", - "abnormal metabolic process", - "Reduced bone mineral density", - "carnitine", - "oxoacid metabolic process", - "abnormal hematopoietic system", - "abnormal urine phosphate level", - "abnormal blood monoatomic ion level", - "abnormal metabolite independent continuant level", - "respiration organ", - "abnormal calcium atom level", - "abnormality of muscle organ physiology", - "non-functional anatomical entity", - "abnormal respiratory system morphology", - "subdivision of organism along main body axis", - "carnitine metabolic process", - "Abnormal cellular phenotype", - "Abnormality of the musculature", - "Abnormal circulating purine concentration", - "abnormal mitochondrion", - "regulation of biological quality", - "abnormal phosphate ion homeostasis", - "abdomen", - "cellular_component", - "abnormal monoatomic ion homeostasis", - "Abnormal urine metabolite level", - "muscle structure", - "abnormal amino acid level", - "nucleobase-containing compound metabolic process", - "organic ion", - "organic cyclic compound metabolic process", - "entity", - "anatomical entity fibrosis", - "Aciduria", - "Osteomalacia", - "abnormal blood uric acid level", - "Growth delay", - "musculature of body", - "obsolete cell", - "Abnormal circulating monocarboxylic acid concentration", - "increased level of glucose in urine", - "organooxygen compound", - "quaternary nitrogen compound", - "Bone pain", - "main group element atom", - "uric acid", - "Phenotypic abnormality", - "potassium(1+)", - "metabolic process", - "abnormal urine chemical entity level", - "epithelial tube", - "respiratory airway", - "increased independent continuant base level", - "monoatomic ion homeostasis", - "organism substance", - "phenotype", - "abnormal renal system", - "carbonyl compound", - "nucleobase-containing small molecule metabolic process", - "multicellular anatomical structure", - "ammonium betaine", - "trunk", - "Abnormality of the genitourinary system", - "quality", - "continuant", - "Metabolic acidosis", - "Renal phosphate wasting", - "abnormal upper urinary tract", - "carboxylic acid anion", - "inorganic ion homeostasis", - "material entity", - "material anatomical entity", - "metal atom", - "multicellular organism", - "abnormality of anatomical entity physiology", - "anatomical entity", - "Abnormal skeletal morphology", - "decreased level of amino-acid betaine", - "Abnormal pulmonary interstitial morphology", - "monovalent inorganic cation", - "musculoskeletal system", - "non-functional kidney", - "abnormal anatomical entity", - "molecular entity", - "polyatomic anion", - "abnormal independent continuant sodium atom level", - "membrane-bounded organelle", - "trunk region element", - ], - "has_phenotype_count": 29, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0060779", - "category": "biolink:Disease", - "name": "acquired Fanconi syndrome", - "full_name": None, - "deprecated": None, - "description": "Fanconi Syndrome caused by exposure to noxious agents.", - "xref": ["NCIT:C78296", "SCTID:236467001", "UMLS:C0341702"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": ["acquired Fanconi syndrome"], - "uri": None, - "iri": None, - "namespace": "MONDO", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0060778", - "category": "biolink:Disease", - "name": "adult Fanconi syndrome", - "full_name": None, - "deprecated": None, - "description": "Probably related to a recessive gene, this is Fanconi Syndrome, characterized by adult onset.", - "xref": ["NCIT:C4377"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"], - "uri": None, - "iri": None, - "namespace": "MONDO", - "has_phenotype": ["HP:0003581"], - "has_phenotype_label": ["Adult onset"], - "has_phenotype_closure": ["HP:0012823", "HP:0003674", "HP:0000001", "HP:0003581", "HP:0031797"], - "has_phenotype_closure_label": ["All", "Clinical course", "Adult onset", "Onset", "Clinical modifier"], - "has_phenotype_count": 1, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0009217", - "category": "biolink:Disease", - "name": "Fanconi-like syndrome", - "full_name": None, - "deprecated": None, - "description": "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.", - "xref": ["DOID:0090066", "MESH:C536855", "OMIM:227850", "SCTID:236469003", "UMLS:C0151638"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": ["Fanconi-like syndrome"], - "uri": None, - "iri": None, - "namespace": "MONDO", - "has_phenotype": ["HP:0005939", "HP:0002754", "HP:0001876", "HP:0002783", "HP:0007606"], - "has_phenotype_label": [ - "Multiple bilateral pneumothoraces", - "Osteomyelitis", - "Pancytopenia", - "Recurrent lower respiratory tract infections", - "Multiple cutaneous malignancies", - ], - "has_phenotype_closure": [ - "UBERON:0004121", - "HP:0007606", - "HP:0008069", - "UBERON:0002097", - "UBERON:0002199", - "UBERON:0002416", - "UPHENO:0003811", - "HP:0011793", - "HP:0000951", - "HP:0011947", - "OBI:0100026", - "HP:0032101", - "UPHENO:0087339", - "CL:0002242", - "CL:0000219", - "UPHENO:0085302", - "HP:0001881", - "CL:0000329", - "UPHENO:0087123", - "UBERON:0002193", - "HP:0011842", - "UPHENO:0086173", - "HP:0001872", - "UPHENO:0085195", - "BFO:0000001", - "UPHENO:0086045", - "UPHENO:0011498", - "UBERON:0002390", - "HP:0025354", - "UPHENO:0006910", - "UPHENO:0086049", - "HP:0011875", - "UPHENO:0074685", - "UPHENO:0076703", - "UPHENO:0084987", - "UPHENO:0086172", - "UPHENO:0074624", - "UPHENO:0085371", - "HP:0011873", - "UPHENO:0085984", - "UBERON:0000025", - "HP:0001871", - "UPHENO:0088166", - "UPHENO:0085344", - "UPHENO:0076675", - "HP:0033127", - "CL:0002092", - "UPHENO:0049587", - "UPHENO:0086005", - "CL:0000764", - "HP:0005561", - "CL:0000763", - "UPHENO:0075696", - "CL:0000151", - "CL:0000457", - "UPHENO:0080662", - "UPHENO:0087355", - "HP:0002795", - "HP:0010978", - "CL:0000255", - "UPHENO:0080693", - "UPHENO:0002964", - "UBERON:0013701", - "HP:0010987", - "UBERON:0002204", - "UBERON:0013702", - "HP:0012145", - "UBERON:0002405", - "GO:0006952", - "GO:0008150", - "UPHENO:0076684", - "UPHENO:0074687", - "UPHENO:0001005", - "UPHENO:0049588", - "UPHENO:0059829", - "HP:0000924", - "UPHENO:0049586", - "UPHENO:0080377", - "UPHENO:0001003", - "HP:0002107", - "GO:0050896", - "UPHENO:0081440", - "UPHENO:0084928", - "UBERON:0009778", - "UBERON:0015203", - "GO:0006950", - "UPHENO:0002263", - "UBERON:0000072", - "HP:0002205", - "CL:0000233", - "UBERON:0001558", - "UBERON:0015212", - "GO:0006954", - "UBERON:0034923", - "HP:0002715", - "UPHENO:0082723", - "UBERON:0011216", - "NCBITaxon:33208", - "UPHENO:0085070", - "UBERON:0001474", - "NCBITaxon:1", - "NCBITaxon:131567", - "HP:0002783", - "UBERON:0000465", - "UBERON:0001004", - "UBERON:0000475", - "UPHENO:0001001", - "UBERON:0011676", - "UBERON:0000468", - "NCBITaxon:2759", - "HP:0032251", - "UPHENO:0077426", - "UBERON:0009569", - "PATO:0000001", - "CL:0000988", - "UPHENO:0015280", - "HP:0011893", - "UPHENO:0002332", - "UBERON:0000170", - "UBERON:0005906", - "UPHENO:0004536", - "UBERON:0004120", - "UBERON:0000479", - "UBERON:0000077", - "UPHENO:0002448", - "PR:000050567", - "UBERON:0004765", - "HP:0002103", - "HP:0002086", - "HP:0002719", - "UBERON:0000042", - "HP:0020047", - "UBERON:0001005", - "BFO:0000003", - "UPHENO:0054970", - "UBERON:0000062", - "UBERON:0005177", - "UPHENO:0085118", - "CL:0000458", - "HP:0002664", - "UPHENO:0086908", - "UPHENO:0020748", - "UPHENO:0081590", - "CL:0000232", - "UPHENO:0083263", - "UPHENO:0049584", - "HP:0011843", - "UBERON:0004111", - "UBERON:0005181", - "UPHENO:0076692", - "BFO:0000020", - "UPHENO:0085189", - "UPHENO:0001002", - "UBERON:0000977", - "UPHENO:0002948", - "BFO:0000015", - "CL:0001035", - "HP:0005939", - "CL:0000225", - "UPHENO:0002635", - "CL:0000000", - "HP:0001873", - "UBERON:0002048", - "UBERON:0001062", - "UBERON:0002371", - "UBERON:0000060", - "UBERON:0013522", - "UPHENO:0002536", - "UBERON:0001434", - "HP:0025461", - "UBERON:0005178", - "CL:0000081", - "UBERON:0004119", - "HP:0000001", - "UPHENO:0082682", - "NCBITaxon:33154", - "UPHENO:0082875", - "CL:0000738", - "UBERON:0000061", - "HP:0001876", - "UPHENO:0019970", - "UPHENO:0063722", - "HP:0000118", - "UBERON:0000171", - "BFO:0000004", - "HP:0002754", - "UBERON:0002100", - "UBERON:0000064", - "UPHENO:0085144", - "BFO:0000002", - "UBERON:0000467", - "UPHENO:0080221", - "UBERON:0002075", - "HP:0002088", - "HP:0012252", - "UBERON:0010000", - "UBERON:0000481", - "UBERON:0034925", - "UPHENO:0004459", - "NCBITaxon:6072", - "UPHENO:0087433", - "UBERON:0003103", - "UBERON:0000065", - "HP:0012647", - "HP:0001574", - "UBERON:0000915", - "UPHENO:0020584", - "UPHENO:0074572", - "HP:0012649", - "UPHENO:0085068", - "BFO:0000040", - ], - "has_phenotype_closure_label": [ - "integumental system", - "Neoplasm by anatomical site", - "Neoplasm", - "Abnormality of the skin", - "abnormal integument", - "abnormal respiratory system", - "ectoderm-derived structure", - "Eumetazoa", - "All", - "Multiple cutaneous malignancies", - "Neoplasm of the skin", - "abnormal skin of body", - "abnormal inflammatory response", - "Unusual infection", - "skeletal element", - "Abnormal cellular immune system morphology", - "abnormal platelet morphology", - "Abnormal platelet morphology", - "erythrocyte", - "myeloid cell", - "biogenic amine secreting cell", - "increased qualitatively biological_process", - "abnormal number of anatomical enitites of type cell", - "Abnormality of immune system physiology", - "abnormal response to stress", - "bone cell", - "bone marrow cell", - "abnormally decreased number of myeloid cell", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Abnormal cellular phenotype", - "nucleate cell", - "motile cell", - "oxygen accumulating cell", - "abnormal hematopoietic cell morphology", - "anucleate cell", - "secretory cell", - "eukaryotic cell", - "Recurrent infections", - "abnormal bone marrow cell morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "mixed endoderm/mesoderm-derived structure", - "Abnormality of bone marrow cell morphology", - "erythroid lineage cell", - "integument", - "abnormal number of anatomical enitites of type anatomical entity", - "biological_process", - "Abnormal myeloid cell morphology", - "abnormal immune system morphology", - "Abnormal lung morphology", - "Thrombocytopenia", - "Osteomyelitis", - "tissue", - "Abnormality of thrombocytes", - "hemolymphoid system", - "abnormal cell", - "abnormal hematopoietic system morphology", - "abnormal number of anatomical enitites of type platelet", - "anatomical structure", - "Abnormality of blood and blood-forming tissues", - "Abnormal leukocyte morphology", - "immune system", - "abnormal anatomical entity morphology", - "abnormal biological_process", - "increased inflammatory response in bone element", - "hematopoietic cell", - "skin of body", - "respiration organ", - "non-connected functional system", - "Respiratory tract infection", - "Abnormal musculoskeletal physiology", - "Abnormal immune system morphology", - "abnormal immune system", - "musculoskeletal system", - "abnormally decreased number of cell", - "increased biological_process in independent continuant", - "Abnormality of the musculoskeletal system", - "Abnormal skeletal morphology", - "Abnormal inflammatory response", - "Abnormal cell morphology", - "increased biological_process", - "abnormally decreased number of hematopoietic cell", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "phenotype by ontology source", - "abnormal response to stimulus", - "bone element", - "body proper", - "changed biological_process rate", - "Recurrent respiratory infections", - "abnormal phenotype by ontology source", - "thoracic cavity element", - "abnormality of musculoskeletal system physiology", - "cell", - "abnormal biological_process in independent continuant", - "Pneumothorax", - "organ system subdivision", - "increased qualitatively inflammatory response", - "proximo-distal subdivision of respiratory tract", - "Abnormal platelet count", - "anatomical entity", - "serotonin secreting cell", - "Abnormal pleura morphology", - "Abnormal leukocyte count", - "phenotype", - "hematopoietic system", - "blood cell", - "Opisthokonta", - "increased inflammatory response", - "subdivision of tube", - "continuant", - "inflammatory response", - "abnormality of immune system physiology", - "increased biological_process in bone element", - "material entity", - "abnormal blood cell morphology", - "organ", - "abnormal platelet", - "lower respiratory tract", - "organism subdivision", - "serous membrane", - "pleura", - "respiratory tract", - "anatomical conduit", - "increased qualitatively response to stimulus", - "pleural sac", - "endoderm-derived structure", - "organism", - "subdivision of organism along main body axis", - "abnormal bone marrow morphology", - "respiratory airway", - "viscus", - "abnormal blood cell", - "thoracic segment organ", - "response to stimulus", - "thoracic segment of trunk", - "leukocyte", - "organ part", - "response to stress", - "defense response", - "abnormal leukocyte morphology", - "abnormal pleura morphology", - "respiratory system", - "changed biological_process rate in independent continuant", - "Increased inflammatory response", - "abnormality of anatomical entity physiology", - "root", - "cellular organisms", - "multi-tissue structure", - "process", - "quality", - "anatomical system", - "platelet", - "Abnormality of the skeletal system", - "specifically dependent continuant", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal respiratory system morphology", - "subdivision of trunk", - "Metazoa", - "Abnormal respiratory system morphology", - "independent continuant", - "increased qualitatively biological_process in independent continuant", - "disconnected anatomical group", - "abnormal skeletal system", - "abnormal bone marrow cell", - "abnormal anatomical entity", - "Abnormality of the immune system", - "occurrent", - "abnormal skeletal system morphology", - "abnormality of respiratory system physiology", - "anatomical collection", - "trunk", - "multicellular anatomical structure", - "main body axis", - "Multiple bilateral pneumothoraces", - "abnormal myeloid cell morphology", - "lung", - "Pancytopenia", - "material anatomical entity", - "entity", - "increased qualitatively inflammatory response in independent continuant", - "abnormal cell morphology", - "trunk region element", - "mesoderm-derived structure", - "serous sac", - "Abnormality of the integument", - "compound organ", - "Abnormal respiratory system physiology", - "bone marrow", - "Eukaryota", - "abnormal number of anatomical enitites of type leukocyte", - "protein-containing material entity", - "Abnormality of the respiratory system", - "tube", - "abnormal hematopoietic system", - "abnormal lung morphology", - "skeletal system", - "abnormal anatomical entity morphology in the independent continuant", - "anatomical wall", - "lateral structure", - "increased inflammatory response in independent continuant", - "Recurrent lower respiratory tract infections", - "Phenotypic abnormality", - "abnormally decreased number of anatomical entity", - "abnormally decreased number of platelet", - "pair of lungs", - "multicellular organism", - ], - "has_phenotype_count": 5, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0001083", - "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome", - "full_name": None, - "deprecated": None, - "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.", - "xref": [ - "DOID:1062", - "GARD:9120", - "MESH:D005198", - "NANDO:2100027", - "NANDO:2200187", - "NCIT:C3034", - "SCTID:40488004", - "UMLS:C0015624", - ], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": [ - "De toni-Fanconi syndrome", - "De toni-debre-Fanconi syndrome", - "Fanconi syndrome", - "Fanconi's syndrome", - "Fanconi-de toni syndrome", - "Fanconi-de-toni syndrome", - "Lignac-Fanconi syndrome", - "adult Fanconi syndrome", - "congenital Fanconi syndrome", - "deToni Fanconi syndrome", - "infantile nephropathic cystinosis", - "toni-debre-Fanconi syndrome", - ], - "uri": None, - "iri": None, - "namespace": "MONDO", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0013247", - "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 2", - "full_name": None, - "deprecated": None, - "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.", - "xref": ["DOID:0080758", "GARD:15655", "OMIM:613388", "UMLS:C3150652"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": [ - "FRTS2", - "Fanconi renotubular syndrome 2", - "Fanconi renotubular syndrome type 2", - "Fanconi syndrome caused by mutation in SLC34A1", - "SLC34A1 Fanconi syndrome", - ], - "uri": None, - "iri": None, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0002749", - "HP:0000117", - "HP:0002148", - "HP:0000114", - "HP:0002757", - "HP:0002748", - "HP:0000938", - "HP:0002909", - "HP:0031415", - "HP:0000093", - "HP:0003076", - "HP:0003165", - "HP:0004322", - "HP:0002653", - "HP:0012213", - "HP:0002150", - "HP:0000083", - ], - "has_phenotype_label": [ - "Osteomalacia", - "Renal phosphate wasting", - "Hypophosphatemia", - "Proximal tubulopathy", - "Recurrent fractures", - "Rickets", - "Osteopenia", - "Generalized aminoaciduria", - "High serum calcitriol", - "Proteinuria", - "Glycosuria", - "Elevated circulating parathyroid hormone level", - "Short stature", - "Bone pain", - "Decreased glomerular filtration rate", - "Hypercalciuria", - "Renal insufficiency", - ], - "has_phenotype_closure": [ - "UPHENO:0086128", - "UPHENO:0082536", - "CHEBI:33521", - "UPHENO:0068102", - "UBERON:0001474", - "CHEBI:16646", - "HP:0000077", - "CHEBI:33250", - "HP:0011842", - "CHEBI:22984", - "CHEBI:33304", - "HP:0000002", - "UPHENO:0015280", - "UPHENO:0075195", - "HP:0002909", - "UPHENO:0068134", - "UPHENO:0080351", - "UPHENO:0020584", - "HP:0004322", - "HP:0001510", - "UPHENO:0082538", - "UPHENO:0081423", - "UPHENO:0002332", - "PR:000064867", - "CHEBI:33675", - "UPHENO:0068144", - "CHEBI:33241", - "HP:0012213", - "UPHENO:0051936", - "UPHENO:0069254", - "UBERON:0002193", - "HP:0430071", - "CHEBI:36080", - "UBERON:0001969", - "HP:0002152", - "HP:0000001", - "UPHENO:0051741", - "UBERON:0000468", - "HP:0002157", - "HP:0012337", - "UPHENO:0077826", - "UPHENO:0082534", - "UPHENO:0051648", - "UBERON:0001977", - "UPHENO:0068533", - "HP:0001948", - "HP:0003076", - "UPHENO:0068068", - "CHEBI:24431", - "PR:000013429", - "UPHENO:0046344", - "UPHENO:0051680", - "HP:0033405", - "GO:0040007", - "HP:0004360", - "CHEBI:18133", - "CHEBI:15693", - "UPHENO:0086132", - "UPHENO:0046362", - "UPHENO:0052116", - "CHEBI:33917", - "UPHENO:0051612", - "UPHENO:0051635", - "CHEBI:35381", - "HP:0011280", - "UPHENO:0080659", - "CHEBI:26082", - "UPHENO:0068442", - "HP:6000531", - "UPHENO:0051640", - "UPHENO:0068058", - "UBERON:0004120", - "UPHENO:0068054", - "GO:0008152", - "UPHENO:0051801", - "UPHENO:0068472", - "CHEBI:33839", - "CHEBI:64709", - "GO:0006629", - "HP:0025142", - "CHEBI:33256", - "CHEBI:37622", - "CHEBI:33709", - "UPHENO:0068565", - "UPHENO:0075696", - "CHEBI:16670", - "UPHENO:0002442", - "HP:0000093", - "HP:0004364", - "UPHENO:0049628", - "CHEBI:15841", - "UPHENO:0081440", - "HP:0000083", - "CHEBI:18059", - "UPHENO:0049873", - "HP:0012212", - "UBERON:0000064", - "HP:0020129", - "UPHENO:0081548", - "CHEBI:35352", - "UPHENO:0051864", - "HP:0003119", - "CHEBI:27136", - "UBERON:0015203", - "UPHENO:0051678", - "CHEBI:35341", - "UBERON:0000178", - "CHEBI:17234", - "UPHENO:0076286", - "UPHENO:0068064", - "HP:0031415", - "UPHENO:0082539", - "GO:0055062", - "CHEBI:27300", - "UPHENO:0084654", - "CHEBI:47042", - "CHEBI:17823", - "HP:0100530", - "GO:0006775", - "UPHENO:0081547", - "GO:0071704", - "CHEBI:35788", - "HP:0003077", - "UPHENO:0051712", - "UPHENO:0000541", - "HP:0003165", - "HP:0032369", - "HP:0032245", - "UPHENO:0068384", - "UPHENO:0080643", - "UPHENO:0049723", - "GO:0042359", - "GO:0044281", - "GO:0044238", - "CHEBI:16541", - "GO:0048878", - "CHEBI:33595", - "UPHENO:0076287", - "HP:0100529", - "CHEBI:33822", - "UPHENO:0076293", - "UPHENO:0078628", - "UPHENO:0003116", - "HP:0100511", - "UBERON:0000025", - "CHEBI:33832", - "CHEBI:33285", - "CHEBI:25367", - "HP:0100508", - "UPHENO:0081424", - "HP:0040156", - "CHEBI:35350", - "CHEBI:35605", - "CHEBI:36586", - "CHEBI:33674", - "UPHENO:0068089", - "UPHENO:0079536", - "HP:0002150", - "UBERON:0000061", - "UPHENO:0076289", - "UPHENO:0046281", - "CHEBI:33575", - "CHEBI:78616", - "CHEBI:50860", - "UPHENO:0068040", - "GO:1901360", - "CHEBI:73558", - "UPHENO:0081546", - "CHEBI:37577", - "UPHENO:0068091", - "UPHENO:0068491", - "UPHENO:0078554", - "CHEBI:32988", - "CHEBI:36962", - "UPHENO:0048707", - "CHEBI:25806", - "CHEBI:22313", - "UBERON:0003103", - "UPHENO:0068971", - "UPHENO:0000543", - "UPHENO:0050116", - "UPHENO:0034391", - "CHEBI:51143", - "HP:0000119", - "CHEBI:36360", - "CHEBI:33582", - "UPHENO:0082542", - "HP:0033127", - "HP:0032943", - "UPHENO:0068049", - "UPHENO:0001002", - "CHEBI:24833", - "CHEBI:36357", - "CHEBI:36587", - "UBERON:0010000", - "CHEBI:33608", - "HP:0002748", - "UPHENO:0051630", - "UPHENO:0068495", - "UBERON:0001434", - "HP:0002757", - "UBERON:0015212", - "UBERON:0009569", - "UBERON:0011676", - "UBERON:0002113", - "UPHENO:0068477", - "UBERON:0013701", - "UBERON:0011143", - "UBERON:0000483", - "HP:0001507", - "HP:0001871", - "UPHENO:0081550", - "HP:0033331", - "HP:0003117", - "UBERON:0000463", - "UPHENO:0001003", - "CHEBI:33579", - "UBERON:0005177", - "UPHENO:0002411", - "CHEBI:24867", - "HP:0012211", - "UBERON:0000479", - "HP:0010935", - "HP:0012599", - "HP:0000114", - "HP:0002749", - "UBERON:0005173", - "UBERON:0002417", - "HP:0012591", - "UBERON:0002100", - "UBERON:0000916", - "CHEBI:33318", - "UPHENO:0051847", - "UBERON:0006314", - "UPHENO:0066943", - "UBERON:0015204", - "UPHENO:0024906", - "UPHENO:0068313", - "UBERON:0004819", - "CHEBI:33559", - "CHEBI:24870", - "CHEBI:33259", - "PR:000050567", - "UPHENO:0034217", - "UPHENO:0068110", - "HP:0031980", - "CHEBI:23367", - "CHEBI:33238", - "UPHENO:0068251", - "UPHENO:0048763", - "UBERON:0005172", - "UPHENO:0051930", - "HP:0003355", - "UPHENO:0004459", - "UPHENO:0050080", - "UPHENO:0049587", - "HP:0002148", - "CHEBI:36853", - "CHEBI:26079", - "UPHENO:0051686", - "UPHENO:0051960", - "CHEBI:36963", - "UPHENO:0051804", - "UPHENO:0012541", - "PATO:0000001", - "UPHENO:0049874", - "HP:0000117", - "UPHENO:0052038", - "HP:0000938", - "UPHENO:0080638", - "UPHENO:0078589", - "UBERON:0004111", - "UPHENO:0034253", - "UPHENO:0051628", - "CHEBI:51958", - "UPHENO:0077821", - "UPHENO:0002964", - "CHEBI:72695", - "UPHENO:0001005", - "UPHENO:0082541", - "UPHENO:0068169", - "HP:0012531", - "UPHENO:0034351", - "GO:0001503", - "BFO:0000002", - "HP:0002659", - "UPHENO:0048711", - "UPHENO:0002642", - "UPHENO:0051900", - "HP:0001939", - "UBERON:0000467", - "UPHENO:0068047", - "HP:0011277", - "UBERON:0000174", - "UBERON:0001285", - "BFO:0000040", - "UPHENO:0049618", - "CHEBI:26020", - "UPHENO:0082540", - "UPHENO:0046348", - "HP:0033354", - "UPHENO:0081544", - "UPHENO:0051739", - "HP:0011843", - "UPHENO:0049904", - "UPHENO:0046286", - "HP:0032180", - "UBERON:0003914", - "PR:000000001", - "UBERON:0034923", - "UBERON:0002390", - "UBERON:0000179", - "HP:0003330", - "HP:0003110", - "UPHENO:0046284", - "GO:0042592", - "UPHENO:0051709", - "HP:0000079", - "HP:0012072", - "HP:0003111", - "CHEBI:36359", - "HP:0002653", - "UPHENO:0068538", - "UBERON:0013702", - "CHEBI:33302", - "UPHENO:0002832", - "UPHENO:0051668", - "HP:0000124", - "UBERON:0001008", - "UBERON:0000062", - "UPHENO:0079534", - "BFO:0000003", - "UPHENO:0080352", - "UPHENO:0051186", - "UPHENO:0002803", - "UPHENO:0082834", - "GO:0008202", - "UBERON:0000489", - "GO:0006766", - "GO:0098771", - "HP:0010876", - "PR:000018263", - "UBERON:0004765", - "CHEBI:33695", - "UBERON:0002204", - "UBERON:0007684", - "GO:0008150", - "UPHENO:0082835", - "HP:0004349", - "UPHENO:0084653", - "BFO:0000001", - "UPHENO:0082943", - "UBERON:0000465", - "CHEBI:24651", - "UPHENO:0066927", - "CHEBI:26191", - "CHEBI:33635", - "UPHENO:0068247", - "GO:0050801", - "GO:0032501", - "HP:0000924", - "UBERON:0001062", - "UPHENO:0068174", - "UBERON:0001088", - "UPHENO:0075902", - "UPHENO:0066739", - "UBERON:0004122", - "UBERON:0011216", - "HP:0004348", - "UPHENO:0068104", - "HP:0011849", - "GO:1901615", - "UBERON:0009773", - "BFO:0000020", - "UBERON:0000949", - "UPHENO:0051670", - "UPHENO:0075159", - "UPHENO:0076692", - "HP:0000118", - "UPHENO:0046291", - "UBERON:8450002", - "UPHENO:0002536", - "UPHENO:0051763", - "UBERON:0006555", - "CHEBI:33694", - "HP:0001992", - "UBERON:0001231", - "UPHENO:0001001", - "UPHENO:0051937", - "UPHENO:0082875", - "BFO:0000004", - "UPHENO:0080658", - "UBERON:0000475", - "CHEBI:50047", - "UBERON:0004211", - "BFO:0000015", - "UPHENO:0076285", - "UPHENO:0076703", - "HP:0000818", - ], - "has_phenotype_closure_label": [ - "non-functional anatomical entity", - "abnormal independent continuant calcium atom level", - "abnormal urine calcium atom level", - "s-block element atom", - "main group element atom", - "increased level of calcium atom in independent continuant", - "Hypercalciuria", - "Bone pain", - "decreased size of the multicellular organism", - "abnormal size of anatomical entity", - "Growth delay", - "Abnormality of body height", - "abnormal calcium atom level", - "decreased height of the multicellular organism", - "delayed biological_process", - "abnormal acid bodily fluid level", - "abnormal blood protein polypeptide chain level", - "Azotemia", - "Abnormality of acid-base homeostasis", - "increased level of protein in blood", - "Alkalosis", - "Elevated circulating parathyroid hormone level", - "biomacromolecule", - "abnormal blood nitrogen molecular entity level", - "protein", - "abnormal protein level", - "Hyperproteinemia", - "abnormal blood serum chemical entity level", - "increased blood serum base level", - "increased level of parathyroid hormone in blood", - "increased level of monosaccharide in independent continuant", - "glucose", - "aldohexose", - "Glycosuria", - "abnormal independent continuant glucose level", - "increased level of monosaccharide in urine", - "increased level of calcium atom in urine", - "carbohydrates and carbohydrate derivatives", - "Constitutional symptom", - "increased level of glucose in independent continuant", - "Abnormal urinary organic compound level", - "abnormal urine glucose level", - "Alkalemia", - "peptide", - "Abnormal urine protein level", - "increased level of protein polypeptide chain in independent continuant", - "primary amide", - "carboxamide", - "macromolecule", - "amide", - "abnormal independent continuant parathyroid hormone level", - "abnormal independent continuant protein polypeptide chain level", - "glandular system", - "increased level of chemical entity in blood", - "Abnormality of urine calcium concentration", - "Abnormal metabolism", - "Short stature", - "non-connected functional system", - "abnormal metabolite independent continuant level", - "calcitriol", - "seco-steroid", - "endocrine system", - "organic substance metabolic process", - "increased blood role level", - "vitamin metabolic process", - "Abnormal circulating organic amino compound concentration", - "lipid metabolic process", - "abnormal independent continuant lipid level", - "increased independent continuant hormone level", - "aldose", - "polypeptide", - "hydroxycalciol", - "fat-soluble vitamin metabolic process", - "vitamin D metabolic process", - "steroid metabolic process", - "abnormal growth", - "increased level of lipid in blood", - "cyclic compound", - "increased level of protein", - "triol", - "abnormal role bodily fluid level", - "abnormal role blood level", - "abnormal vitamin D level", - "abnormal vitamin metabolic process", - "Hyperlipidemia", - "organic hydroxy compound", - "organic cyclic compound", - "information biomacromolecule", - "increased bodily fluid role level", - "abnormal lipid metabolic process", - "abnormal hormone blood level", - "increased level of vitamin D", - "Renal insufficiency", - "increased level of chemical entity in urine", - "metal atom", - "Elevated urinary carboxylic acid", - "hydrogen molecular entity", - "delayed growth", - "Abnormal urine carboxylic acid level", - "decreased size of the anatomical entity in the independent continuant", - "increased level of chemical entity in blood serum", - "abnormal independent continuant carbohydrate level", - "amino acid", - "increased level of organic molecular entity in independent continuant", - "Abnormal glomerular filtration rate", - "increased level of organic acid in urine", - "Aminoaciduria", - "increased level of nitrogen molecular entity in independent continuant", - "atom", - "organic cyclic compound metabolic process", - "Abnormal urine metabolite level", - "monoatomic entity", - "increased independent continuant role level", - "protein-containing material entity", - "Generalized aminoaciduria", - "abnormal anatomical entity morphology in the independent continuant", - "organochalcogen compound", - "nitrogen molecular entity", - "increased blood serum role level", - "abnormal blood phosphate level", - "increased independent continuant acid level", - "heteroorganic entity", - "organonitrogen compound", - "abnormal role independent continuant level", - "abnormal blood lipid level", - "oxoacid", - "decreased height of the anatomical entity", - "organic oxo compound", - "increased level of glucose in urine", - "Abnormal circulating organic compound concentration", - "increased level of organic acid in independent continuant", - "Pain", - "increased level of amino acid in urine", - "Aciduria", - "Osteopenia", - "mesoderm-derived structure", - "increased level of carboxylic acid in independent continuant", - "vitamin D", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal independent continuant carboxylic acid level", - "Abnormal musculoskeletal physiology", - "nephron tubule", - "renal tubule", - "Abnormality of the skeletal system", - "uriniferous tubule", - "Increased susceptibility to fractures", - "phosphorus oxoacid derivative", - "epithelium", - "organic molecular entity", - "nephron", - "abnormal urine amino acid level", - "bone element", - "Abnormal urine pH", - "anatomical conduit", - "organism subdivision", - "epithelial tube", - "abnormality of kidney physiology", - "Abnormal renal physiology", - "oxygen molecular entity", - "Abnormality of the kidney", - "chalcogen molecular entity", - "cavitated compound organ", - "abnormal kidney", - "main body axis", - "subdivision of organism along main body axis", - "growth", - "hydroxides", - "Abnormality of the upper urinary tract", - "Abnormal homeostasis", - "increased independent continuant base level", - "excretory tube", - "upper urinary tract", - "Decreased anatomical entity mass density", - "abdomen element", - "compound organ", - "lateral structure", - "non-functional kidney", - "abnormally decreased functionality of the nephron tubule", - "Renal phosphate wasting", - "anatomical entity dysfunction in independent continuant", - "haemolymphatic fluid", - "hematopoietic system", - "primary metabolic process", - "ossification", - "abnormal anatomical entity morphology", - "abnormal biological_process", - "hydroxy seco-steroid", - "abnormal hormone independent continuant level", - "Hypophosphatemia", - "abnormal urine phosphate level", - "p-block molecular entity", - "abnormal hematopoietic system", - "bodily fluid", - "protein polypeptide chain", - "Abnormal blood ion concentration", - "abnormality of musculoskeletal system physiology", - "organic hydroxy compound metabolic process", - "abnormal blood chemical entity level", - "nephron epithelium", - "Abnormality of the endocrine system", - "abnormal independent continuant monoatomic ion level", - "multicellular anatomical structure", - "abnormal amino acid level", - "trunk", - "carbonyl compound", - "Abnormality of vitamin D metabolism", - "hemolymphoid system", - "alkaline earth metal atom", - "abnormal homeostatic process", - "abnormality of multicellular organism height", - "increased level of protein polypeptide chain in urine", - "increased level of calcitriol in blood", - "abnormal independent continuant chemical entity level", - "anatomical system", - "abnormal blood monoatomic ion level", - "anatomical entity", - "Abnormal skeletal morphology", - "decreased level of chemical entity in independent continuant", - "monoatomic ion", - "High serum calcitriol", - "anatomical structure", - "Abnormality of the urinary system", - "Abnormality of blood and blood-forming tissues", - "calcium atom", - "Recurrent fractures", - "material entity", - "inorganic ion homeostasis", - "Abnormal circulating nitrogen compound concentration", - "monosaccharide", - "Abnormal blood phosphate concentration", - "abnormal acid independent continuant level", - "abnormal chemical homeostasis", - "Abnormality of urine homeostasis", - "multicellular organismal process", - "skeletal element", - "increased level of parathyroid hormone in independent continuant", - "pnictogen molecular entity", - "abnormal metabolic process", - "abdomen", - "abnormal phosphate ion homeostasis", - "abnormal multicellular organism chemical entity level", - "excreta", - "increased bodily fluid base level", - "carbohydrate", - "abnormal endocrine system", - "abnormal role urine level", - "homeostatic process", - "Acute phase response", - "carbon group molecular entity", - "Abnormality of metabolism/homeostasis", - "decreased level of phosphate in blood", - "decreased level of chemical entity in blood", - "Abnormal urine phosphate concentration", - "increased level of lipid", - "urine", - "increased level of carboxylic acid in urine", - "organism substance", - "monoatomic ion homeostasis", - "amino acid chain", - "Organic aciduria", - "s-block molecular entity", - "genitourinary system", - "abnormal role blood serum level", - "Abnormality of the musculoskeletal system", - "increased level of calcitriol in independent continuant", - "chemical entity", - "abnormal independent continuant protein level", - "subdivision of trunk", - "elemental molecular entity", - "Abnormal urinary electrolyte concentration", - "abnormal independent continuant phosphate level", - "increased level of protein in independent continuant", - "tube", - "abnormal phosphate level", - "Proteinuria", - "phosphorus molecular entity", - "abdominal segment of trunk", - "Abnormality of bone mineral density", - "oxoacid derivative", - "Abnormal circulating calcium-phosphate regulating hormone concentration", - "phosphate", - "tissue", - "Reduced bone mineral density", - "abnormal chemical entity level", - "abnormal independent continuant amino acid level", - "phenotype", - "abnormal renal system", - "abnormally decreased functionality of the anatomical entity", - "kidney epithelium", - "main group molecular entity", - "abnormal genitourinary system", - "abdominal segment element", - "hexose", - "increased level of lipid in independent continuant", - "Abnormal bone structure", - "organ part", - "organic acid", - "heteroatomic molecular entity", - "D3 vitamins", - "ion", - "abnormality of renal system physiology", - "polyatomic entity", - "abnormal primary metabolic process", - "organic amino compound", - "abnormal vitamin D metabolic process", - "entity", - "Osteomalacia", - "molecule", - "occurrent", - "abnormal skeletal system morphology", - "organooxygen compound", - "Abnormal circulating lipid concentration", - "polyol", - "Renal tubular dysfunction", - "abnormal blood parathyroid hormone level", - "Phenotypic abnormality", - "metabolic process", - "carbon oxoacid", - "polycyclic compound", - "abnormal urine chemical entity level", - "increased level of parathyroid hormone in blood serum", - "abnormal phenotype by ontology source", - "Abnormality of the genitourinary system", - "Abnormal circulating hormone concentration", - "quality", - "process", - "abnormal lipid level", - "body proper", - "Abnormality of vitamin metabolism", - "All", - "abnormal anatomical entity mass density", - "continuant", - "abnormal blood plasma chemical entity level", - "Decreased bone element mass density", - "phosphate ion homeostasis", - "abnormal upper urinary tract", - "specifically dependent continuant", - "blood serum", - "organic polycyclic compound", - "abnormal bone element mass density", - "material anatomical entity", - "kidney", - "independent continuant", - "multicellular organism", - "abnormality of anatomical entity physiology", - "parathyroid hormone", - "Abnormal bone ossification", - "hydroxy steroid", - "Abnormality of the urinary system physiology", - "decreased size of the anatomical entity", - "musculoskeletal system", - "increased level of chemical entity in bodily fluid", - "phosphorus oxoacids and derivatives", - "organic molecule", - "abnormal small molecule metabolic process", - "carboxylic acid", - "phosphoric acid derivative", - "biological_process", - "Abnormal circulating protein concentration", - "increased level of chemical entity in independent continuant", - "skeletal system", - "increased level of nitrogen molecular entity in blood", - "Abnormal circulating metabolite concentration", - "increased level of chemical entity", - "increased level of amino acid in independent continuant", - "abnormality of anatomical entity height", - "excretory system", - "abnormal size of multicellular organism", - "small molecule metabolic process", - "renal system", - "abnormal skeletal system", - "steroid", - "phenotype by ontology source", - "abnormal monoatomic ion homeostasis", - "blood plasma", - "chemical homeostasis", - "abnormal anatomical entity", - "increased level of chemical entity in blood plasma", - "Rickets", - "protein-containing molecular entity", - "disconnected anatomical group", - "molecular entity", - "Proximal tubulopathy", - "organ", - "Decreased glomerular filtration rate", - "blood", - "organ system subdivision", - "Growth abnormality", - "lipid", - "decreased level of phosphate in independent continuant", - "trunk region element", - "decreased level of chemical entity", - ], - "has_phenotype_count": 17, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0100238", - "category": "biolink:Disease", - "name": "inherited Fanconi renotubular syndrome", - "full_name": None, - "deprecated": None, - "description": "An instance of Fanconi renotubular syndrome that is inherited.", - "xref": ["OMIMPS:134600"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": ["hereditary Fanconi renotubular syndrome"], - "uri": None, - "iri": None, - "namespace": "MONDO", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0030056", - "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 5", - "full_name": None, - "deprecated": None, - "description": None, - "xref": ["DOID:0080761", "GARD:16392", "OMIM:618913"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": [ - "FANCONI RENOTUBULAR SYNDROME 5", - "FRTS5", - "Fanconi Renotubular Syndrome, Acadian Variant", - "Fanconi renotubular syndrome 5", - ], - "uri": None, - "iri": None, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0002148", - "HP:0002206", - "HP:0004912", - "HP:0002857", - "HP:0004918", - "HP:0045051", - "HP:0000093", - "HP:0003076", - "HP:0002097", - "HP:0003355", - "HP:0005576", - "HP:0003774", - "HP:0000822", - "HP:0030078", - ], - "has_phenotype_label": [ - "Hypophosphatemia", - "Pulmonary fibrosis", - "Hypophosphatemic rickets", - "Genu valgum", - "Hyperchloremic metabolic acidosis", - "Decreased DLCO", - "Proteinuria", - "Glycosuria", - "Emphysema", - "Aminoaciduria", - "Tubulointerstitial fibrosis", - "Stage 5 chronic kidney disease", - "Hypertension", - "Lung adenocarcinoma", - ], - "has_phenotype_closure": [ - "HP:0011793", - "UBERON:0004537", - "HP:0000822", - "HP:0012072", - "UBERON:0001558", - "UBERON:0000477", - "UPHENO:0052116", - "UPHENO:0086132", - "UPHENO:0002411", - "CHEBI:24867", - "HP:0012211", - "UBERON:0002049", - "HP:0003774", - "UPHENO:0076779", - "UBERON:0005172", - "UBERON:0002113", - "UBERON:0001981", - "UBERON:0013701", - "UBERON:0011143", - "UBERON:0000483", - "UBERON:0001231", - "UPHENO:0087427", - "UPHENO:0087993", - "UBERON:0003914", - "HP:0002664", - "HP:0001969", - "HP:0010935", - "HP:0000091", - "UBERON:0006555", - "UBERON:0000026", - "UBERON:0007684", - "HP:0012575", - "UBERON:0002417", - "CHEBI:25367", - "CHEBI:35605", - "CHEBI:36586", - "CHEBI:33674", - "HP:0032581", - "CHEBI:33575", - "UPHENO:0068040", - "UPHENO:0068565", - "CHEBI:33709", - "UPHENO:0051930", - "HP:0001992", - "UPHENO:0078554", - "UPHENO:0068491", - "BFO:0000001", - "UBERON:0003823", - "UPHENO:0002406", - "CHEBI:24651", - "UPHENO:0001002", - "CHEBI:24833", - "HP:0000083", - "CHEBI:16646", - "UPHENO:0076299", - "UBERON:0001474", - "HP:0000077", - "UPHENO:0002896", - "UPHENO:0068495", - "UPHENO:0004459", - "HP:0003355", - "CHEBI:18133", - "UBERON:0000178", - "UPHENO:0076767", - "CHEBI:17234", - "CHEBI:35381", - "UPHENO:0080659", - "UBERON:0010707", - "HP:6000531", - "UPHENO:0051640", - "UPHENO:0068058", - "UBERON:0004120", - "UPHENO:0068054", - "CHEBI:33285", - "UBERON:0005173", - "CHEBI:36962", - "CHEBI:32988", - "HP:0012252", - "UPHENO:0080362", - "CHEBI:33839", - "UPHENO:0051739", - "UPHENO:0081544", - "HP:0030078", - "CHEBI:37622", - "UBERON:0004211", - "CHEBI:50047", - "CHEBI:78616", - "HP:0001941", - "CHEBI:50860", - "UPHENO:0002642", - "UPHENO:0002442", - "HP:0000093", - "UBERON:0000174", - "CHEBI:25806", - "UBERON:0001088", - "UPHENO:0049628", - "CHEBI:15841", - "HP:0012210", - "HP:0011842", - "CHEBI:33304", - "UBERON:0001008", - "UPHENO:0051670", - "UBERON:0013702", - "UPHENO:0068538", - "HP:0045051", - "HP:0030878", - "HP:0004918", - "UPHENO:0068089", - "UPHENO:0079536", - "UBERON:0000061", - "UPHENO:0031193", - "UPHENO:0076289", - "UPHENO:0068064", - "UBERON:0000468", - "HP:0012337", - "UPHENO:0081547", - "HP:0001942", - "HP:0001995", - "CHEBI:37577", - "UBERON:0010912", - "UPHENO:0068091", - "UPHENO:0081546", - "UPHENO:0051668", - "UPHENO:0002832", - "UBERON:0001009", - "HP:0004360", - "UPHENO:0051709", - "HP:0000079", - "HP:0002206", - "RO:0002577", - "UPHENO:0086128", - "UBERON:0000154", - "UPHENO:0041258", - "UBERON:0005055", - "UBERON:0002513", - "CHEBI:33256", - "UBERON:0004708", - "HP:0100606", - "HP:0005576", - "UPHENO:0086780", - "UPHENO:0041098", - "UPHENO:0080658", - "UPHENO:0041610", - "HP:0011277", - "UBERON:0010740", - "UBERON:0010758", - "UPHENO:0087462", - "UPHENO:0002885", - "HP:0003330", - "HP:0002979", - "UBERON:0004122", - "HP:0006487", - "HP:0011314", - "CHEBI:16541", - "UPHENO:0084763", - "UPHENO:0086628", - "CHEBI:33238", - "UBERON:0010363", - "UPHENO:0076740", - "UBERON:0003840", - "UPHENO:0048707", - "UBERON:0002471", - "UBERON:0010000", - "UBERON:0008784", - "UBERON:0000982", - "UBERON:0000916", - "UPHENO:0049904", - "UBERON:0000978", - "UPHENO:0003070", - "UBERON:0002075", - "HP:0001367", - "HP:0000940", - "HP:0002597", - "CHEBI:72695", - "HP:0032180", - "UPHENO:0082129", - "UPHENO:0041536", - "HP:0002814", - "UPHENO:0086635", - "UPHENO:0075945", - "UBERON:0000475", - "UBERON:0001004", - "UBERON:0004709", - "UBERON:0004770", - "UPHENO:0084654", - "UBERON:0004381", - "HP:0002748", - "UPHENO:0086956", - "UPHENO:0066739", - "UBERON:0001465", - "UBERON:0002091", - "CHEBI:15693", - "UBERON:0010538", - "HP:0011025", - "UBERON:0002390", - "UBERON:0034923", - "UPHENO:0068144", - "CHEBI:33675", - "CHEBI:33241", - "GO:0008150", - "UBERON:0015061", - "UPHENO:0051763", - "UPHENO:0002536", - "UBERON:0001434", - "UBERON:0005913", - "UBERON:0004819", - "UBERON:0006058", - "UPHENO:0076294", - "UBERON:0004288", - "UBERON:0000171", - "UBERON:0010709", - "UPHENO:0080300", - "UBERON:0004905", - "HP:0001626", - "UBERON:0000179", - "UBERON:0034944", - "GO:0008152", - "UPHENO:0051801", - "HP:0002815", - "CHEBI:64709", - "UPHENO:0041591", - "UPHENO:0082834", - "UBERON:0002204", - "UPHENO:0068247", - "HP:0040068", - "GO:0050801", - "HP:0100491", - "GO:0032501", - "CHEBI:35352", - "HP:0000924", - "HP:0004348", - "BFO:0000002", - "GO:0001503", - "UPHENO:0086908", - "UBERON:0002428", - "HP:0004349", - "UPHENO:0084653", - "CHEBI:51143", - "HP:0004912", - "UPHENO:0076703", - "CHEBI:36357", - "UBERON:0002048", - "CHEBI:36587", - "UPHENO:0002803", - "UPHENO:0002332", - "UPHENO:0076727", - "UPHENO:0031310", - "UPHENO:0075696", - "CHEBI:16670", - "UBERON:0000072", - "UPHENO:0082449", - "HP:0032943", - "HP:0033127", - "HP:0030358", - "UBERON:0015212", - "HP:0045049", - "UPHENO:0079873", - "GO:0048878", - "HP:0034669", - "UBERON:0002101", - "UBERON:0009569", - "UBERON:0011676", - "CHEBI:33917", - "HP:0002795", - "UPHENO:0051635", - "HP:0040064", - "UPHENO:0015280", - "UPHENO:0082875", - "UBERON:0005178", - "UBERON:0004535", - "CHEBI:36360", - "HP:0000119", - "UPHENO:0004536", - "HP:0033354", - "UPHENO:0076714", - "UBERON:0005177", - "UBERON:0002529", - "UBERON:0004765", - "UBERON:0001005", - "HP:0001871", - "UBERON:0000025", - "UPHENO:0082835", - "UBERON:0003103", - "HP:0030972", - "UBERON:0004375", - "UPHENO:0001003", - "UBERON:0000463", - "CHEBI:33579", - "UPHENO:0019970", - "UPHENO:0020748", - "UBERON:0000170", - "HP:0040156", - "HP:0003110", - "UPHENO:0046284", - "UPHENO:0087433", - "UPHENO:0082542", - "HP:0002086", - "UBERON:0011249", - "UBERON:0000489", - "UPHENO:0051686", - "UPHENO:0051960", - "CHEBI:26079", - "HP:0002088", - "UBERON:0000065", - "UPHENO:0002678", - "UPHENO:0081548", - "UBERON:0000064", - "HP:0020129", - "UBERON:0034925", - "UPHENO:0020584", - "UBERON:0034921", - "UPHENO:0076692", - "UBERON:0005181", - "UBERON:0011582", - "UBERON:0000915", - "CHEBI:24870", - "HP:0003076", - "UPHENO:0041573", - "BFO:0000003", - "HP:0006530", - "HP:0100526", - "UBERON:0004119", - "GO:0055062", - "UPHENO:0077821", - "UBERON:0000055", - "UPHENO:0002964", - "UPHENO:0068169", - "UPHENO:0082543", - "CHEBI:24431", - "UPHENO:0002448", - "PR:000050567", - "UBERON:0000062", - "GO:0042592", - "UPHENO:0075952", - "CHEBI:33608", - "UBERON:0003657", - "UPHENO:0034391", - "UBERON:0000075", - "UBERON:0004111", - "UPHENO:0034253", - "PATO:0000001", - "HP:0031980", - "UPHENO:0068110", - "HP:0100529", - "HP:0011844", - "CHEBI:23367", - "UPHENO:0041226", - "UPHENO:0034351", - "UBERON:0010712", - "UPHENO:0082538", - "CHEBI:33582", - "HP:0002981", - "UBERON:0002100", - "UPHENO:0050080", - "UPHENO:0051847", - "UBERON:0006314", - "HP:0003111", - "CHEBI:36359", - "UBERON:0002193", - "CHEBI:33259", - "HP:0011849", - "UBERON:0009773", - "UBERON:0002103", - "GO:0098771", - "UPHENO:0049587", - "HP:0002148", - "CHEBI:36963", - "UPHENO:0051804", - "UBERON:0002495", - "UBERON:0013522", - "UPHENO:0082539", - "BFO:0000015", - "UBERON:0001062", - "BFO:0000020", - "CHEBI:26082", - "HP:0002097", - "UPHENO:0034217", - "UPHENO:0001005", - "HP:0001939", - "UBERON:8450002", - "UPHENO:0077858", - "HP:0002813", - "CHEBI:26020", - "BFO:0000040", - "HP:0002857", - "UPHENO:0046348", - "UPHENO:0046286", - "UPHENO:0051937", - "UPHENO:0001001", - "UBERON:0000467", - "UPHENO:0020041", - "HP:0030760", - "BFO:0000004", - "UBERON:0011216", - "HP:0012622", - "UPHENO:0084767", - "UBERON:0000465", - "UPHENO:0076756", - "HP:0032263", - "CHEBI:33302", - "UBERON:0004769", - "UPHENO:0002830", - "UPHENO:0051186", - "UPHENO:0081550", - "UBERON:0007798", - "UPHENO:0082467", - "UBERON:0000479", - "HP:0000118", - "UBERON:0001285", - "UPHENO:0075902", - "HP:0000001", - ], - "has_phenotype_closure_label": [ - "Non-small cell lung carcinoma", - "Neoplasm of the respiratory system", - "Neoplasm of the lung", - "vasculature", - "cardiovascular system", - "abnormal leg", - "blood vessel", - "lower respiratory tract", - "abnormal biological_process", - "glucose", - "Abnormality of the cardiovascular system", - "thoracic segment of trunk", - "peptide", - "vascular system", - "Hypertension", - "Abnormal systemic blood pressure", - "Stage 5 chronic kidney disease", - "Organic aciduria", - "Chronic kidney disease", - "Lung adenocarcinoma", - "non-functional kidney", - "non-functional anatomical entity", - "increased level of chemical entity in bodily fluid", - "carbon oxoacid", - "nephron tubule", - "nephron epithelium", - "abnormal upper urinary tract", - "nephron", - "Abnormality of limb bone morphology", - "respiratory airway", - "epithelial tube", - "kidney epithelium", - "Abnormal renal tubule morphology", - "increased level of monosaccharide in independent continuant", - "blood vasculature", - "abdominal segment element", - "abnormal phenotype by ontology source", - "abnormal nephron morphology", - "abnormal kidney", - "Abnormality of limbs", - "Abnormal renal morphology", - "kidney", - "zone of long bone", - "abnormal renal system morphology", - "abnormal kidney morphology", - "Elevated urinary carboxylic acid", - "abnormal independent continuant carboxylic acid level", - "Renal insufficiency", - "increased level of organic acid in urine", - "Abnormality of the upper urinary tract", - "chemical homeostasis", - "hydroxides", - "organic molecule", - "molecule", - "oxoacid", - "increased independent continuant acid level", - "organic oxo compound", - "elemental molecular entity", - "Emphysema", - "Abnormality of the vasculature", - "aldohexose", - "skeleton", - "Glycosuria", - "Pulmonary fibrosis", - "skeletal system", - "upper urinary tract", - "increased level of organic acid in independent continuant", - "organooxygen compound", - "increased level of glucose in urine", - "hindlimb", - "Abnormal renal insterstitial morphology", - "abnormal urine glucose level", - "Abnormality of urine homeostasis", - "increased level of chemical entity in urine", - "cavitated compound organ", - "chalcogen molecular entity", - "renal system", - "phenotype by ontology source", - "excreta", - "abnormal cardiovascular system", - "organic acid", - "articulation", - "Abnormality of the urinary system physiology", - "increased level of organic molecular entity in independent continuant", - "abnormal vasculature", - "abnormal urine chemical entity level", - "Abnormal urine metabolite level", - "s-block molecular entity", - "genitourinary system", - "excretory system", - "increased level of protein polypeptide chain in independent continuant", - "abnormal genitourinary system", - "primary amide", - "carboxamide", - "organic amino compound", - "Abnormal cardiovascular system physiology", - "organic molecular entity", - "Decreased bone element mass density", - "organism subdivision", - "abnormality of renal system physiology", - "organ", - "heteroorganic entity", - "amide", - "organonitrogen compound", - "Abnormal urinary organic compound level", - "Decreased DLCO", - "renal tubule", - "Abnormality on pulmonary function testing", - "limb endochondral element", - "abnormal acid bodily fluid level", - "increased level of amino acid in independent continuant", - "increased level of chemical entity", - "oxygen molecular entity", - "Abnormality of acid-base homeostasis", - "excretory tube", - "monoatomic ion homeostasis", - "increased independent continuant base level", - "Abnormal homeostasis", - "increased level of protein polypeptide chain in urine", - "abnormal role bodily fluid level", - "Metabolic acidosis", - "zone of bone organ", - "increased bodily fluid role level", - "abnormal independent continuant glucose level", - "Hyperchloremic metabolic acidosis", - "subdivision of organism along appendicular axis", - "amino acid", - "abnormal skeletal system morphology", - "abnormal independent continuant carbohydrate level", - "bone of free limb or fin", - "paired limb/fin skeleton", - "abnormal anatomical entity", - "paired limb/fin", - "Abnormal appendicular skeleton morphology", - "abnormal hindlimb joint", - "Aciduria", - "zone of organ", - "pelvic appendage", - "lateral structure", - "limb", - "Increased blood pressure", - "Hyperchloremic acidosis", - "Bowing of the long bones", - "Abnormality of lower limb joint", - "Abnormal joint morphology", - "carboxylic acid", - "curved hindlimb zeugopod", - "endochondral element", - "abnormal kidney epithelium morphology", - "limb bone", - "thoracic cavity element", - "limb joint", - "Abnormality of the kidney", - "abnormal diaphysis morphology in the independent continuant", - "Abnormal diaphysis morphology", - "Abnormality of the skeletal system", - "abdominal segment of trunk", - "abnormal limb", - "posterior region of body", - "increased level of nitrogen molecular entity in independent continuant", - "Abnormality of the knee", - "system", - "macromolecule", - "Bowing of the legs", - "Abnormal knee morphology", - "abnormal knee morphology", - "entity", - "zeugopod", - "lower limb segment", - "abnormal long bone morphology", - "abnormality of kidney physiology", - "knee", - "abnormal bone element mass density", - "Abnormality of bone mineral density", - "limb skeleton subdivision", - "Abnormality of the genitourinary system", - "pelvic complex", - "Abnormal respiratory system physiology", - "epithelium", - "Decreased anatomical entity mass density", - "hexose", - "Abnormal bone structure", - "monosaccharide", - "abnormal hindlimb morphology", - "oxoacid derivative", - "abnormal independent continuant phosphate level", - "pair of lungs", - "abnormal diaphysis morphology", - "curved anatomical entity in independent continuant", - "diaphysis", - "articular system", - "endochondral bone", - "hydrogen molecular entity", - "abnormal appendicular skeleton morphology", - "abnormal skeletal joint morphology", - "abnormality of respiratory system physiology", - "Abnormality of limb bone", - "abnormal knee", - "independent continuant", - "Genu valgum", - "abnormal independent continuant chemical entity level", - "Abnormal respiratory system morphology", - "curved anatomical entity", - "subdivision of trunk", - "abdomen element", - "abnormal hindlimb zeugopod", - "abnormal hindlimb zeugopod, curved", - "phosphate ion homeostasis", - "abnormal anatomical entity, curved", - "musculoskeletal system", - "Abnormal urine pH", - "abnormal anatomical entity morphology", - "ossification", - "appendage girdle complex", - "limb segment", - "shape anatomical entity", - "Abnormality of the musculoskeletal system", - "Hypophosphatemic rickets", - "curvature anatomical entity", - "Abnormal lung morphology", - "lung fibrosis", - "hindlimb joint", - "anatomical cluster", - "specifically dependent continuant", - "abnormal role independent continuant level", - "protein-containing material entity", - "biological_process", - "subdivision of skeleton", - "abnormal phosphate level", - "increased level of chemical entity in independent continuant", - "abnormal chemical entity level", - "Reduced bone mineral density", - "Abnormality of the respiratory system", - "abnormal skeletal system", - "appendicular skeleton", - "All", - "abnormal anatomical entity mass density", - "abnormal urine amino acid level", - "bone element", - "body proper", - "proximo-distal subdivision of respiratory tract", - "aldose", - "abnormal respiratory system", - "polypeptide", - "Abnormal pulmonary interstitial morphology", - "circulatory system", - "abnormal role urine level", - "subdivision of skeletal system", - "respiratory tract", - "Hypophosphatemia", - "anatomical conduit", - "appendicular skeletal system", - "abnormal independent continuant nitrogen molecular entity level", - "thoracic segment organ", - "anatomical entity", - "abnormal independent continuant protein polypeptide chain level", - "urine", - "Abnormal renal physiology", - "respiratory system", - "increased level of amino acid in urine", - "abnormal anatomical entity morphology in the appendage girdle complex", - "anatomical collection", - "abnormal hindlimb zeugopod morphology", - "increased level of glucose in independent continuant", - "abnormal limb morphology", - "Abnormal tubulointerstitial morphology", - "main body axis", - "skeletal element", - "curved long bone", - "abnormal respiratory system morphology", - "subdivision of organism along main body axis", - "long bone", - "Abnormal bone ossification", - "lung", - "p-block molecular entity", - "abnormal hematopoietic system", - "abnormal lung morphology", - "abnormal limb bone", - "abnormality of anatomical entity physiology", - "phosphorus oxoacid derivative", - "occurrent", - "decreased level of chemical entity", - "trunk region element", - "shape long bone", - "Abnormality of the calf", - "Abnormal skeletal morphology", - "Tubulointerstitial fibrosis", - "decreased level of chemical entity in independent continuant", - "monoatomic ion", - "paired limb/fin segment", - "abnormality of cardiovascular system physiology", - "abnormal monoatomic ion homeostasis", - "carbohydrate", - "homeostatic process", - "carbon group molecular entity", - "Abnormality of metabolism/homeostasis", - "protein polypeptide chain", - "Abnormal blood ion concentration", - "Neoplasm", - "abnormal blood phosphate level", - "curvature anatomical entity in independent continuant", - "Abnormal circulating metabolite concentration", - "Proteinuria", - "abnormal independent continuant amino acid level", - "abnormal renal system", - "phenotype", - "Rickets", - "disconnected anatomical group", - "molecular entity", - "abnormal blood chemical entity level", - "carbohydrates and carbohydrate derivatives", - "bone of appendage girdle complex", - "chemical entity", - "increased independent continuant role level", - "decreased level of chemical entity in blood", - "decreased level of phosphate in blood", - "increased level of carboxylic acid in urine", - "multicellular organismal process", - "pnictogen molecular entity", - "multi-limb segment region", - "leg", - "tube", - "abnormal metabolite independent continuant level", - "respiration organ", - "heteroatomic molecular entity", - "viscus", - "organism substance", - "Abnormal urine protein level", - "abnormal shape of continuant", - "abnormal multicellular organism chemical entity level", - "skeletal joint", - "Abnormal urine carboxylic acid level", - "endoderm-derived structure", - "phosphorus molecular entity", - "Abnormality of the urinary system", - "Abnormality of blood and blood-forming tissues", - "anatomical structure", - "abnormal independent continuant monoatomic ion level", - "monoatomic entity", - "shape anatomical entity in independent continuant", - "uriniferous tubule", - "quality", - "organ system subdivision", - "process", - "abnormal blood monoatomic ion level", - "anatomical system", - "abnormal nephron tubule morphology", - "abnormal amino acid level", - "carbonyl compound", - "Acidosis", - "trunk", - "multicellular anatomical structure", - "hemolymphoid system", - "Renal fibrosis", - "abnormal anatomical entity morphology in the pelvic complex", - "hindlimb zeugopod", - "bodily fluid", - "Neoplasm by anatomical site", - "Abnormal DLCO", - "continuant", - "abnormal homeostatic process", - "skeleton of limb", - "decreased level of phosphate in independent continuant", - "multi organ part structure", - "Abnormal long bone morphology", - "vessel", - "metabolic process", - "Phenotypic abnormality", - "increased level of monosaccharide in urine", - "haemolymphatic fluid", - "abnormal acid independent continuant level", - "abnormal chemical homeostasis", - "subdivision of tube", - "hematopoietic system", - "phosphorus oxoacids and derivatives", - "organ part", - "shape hindlimb zeugopod", - "blood", - "increased level of carboxylic acid in independent continuant", - "mesoderm-derived structure", - "increased bodily fluid acid level", - "tissue", - "phosphate", - "abdomen", - "abnormal phosphate ion homeostasis", - "Abnormal blood phosphate concentration", - "organochalcogen compound", - "nitrogen molecular entity", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal limb bone morphology", - "polyatomic entity", - "ion", - "main group molecular entity", - "multicellular organism", - "phosphoric acid derivative", - "Aminoaciduria", - "anatomical entity fibrosis", - "Abnormal nephron morphology", - "material entity", - "inorganic ion homeostasis", - "appendage", - "material anatomical entity", - "Abnormality of the lower limb", - "compound organ", - ], - "has_phenotype_count": 14, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0014275", - "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 3", - "full_name": None, - "deprecated": None, - "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.", - "xref": ["DOID:0080759", "GARD:15991", "OMIM:615605", "UMLS:C3810100"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": [ - "EHHADH Fanconi syndrome", - "FRTS3", - "Fanconi renotubular syndrome 3", - "Fanconi renotubular syndrome type 3", - "Fanconi syndrome caused by mutation in EHHADH", - ], - "uri": None, - "iri": None, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0001510", - "HP:0003259", - "HP:0001942", - "HP:0003109", - "HP:0002748", - "HP:0002979", - "HP:0003076", - "HP:0000083", - "HP:0004322", - "HP:0003355", - "HP:0003126", - ], - "has_phenotype_label": [ - "Growth delay", - "Elevated circulating creatinine concentration", - "Metabolic acidosis", - "Hyperphosphaturia", - "Rickets", - "Bowing of the legs", - "Glycosuria", - "Renal insufficiency", - "Short stature", - "Aminoaciduria", - "Low-molecular-weight proteinuria", - ], - "has_phenotype_closure": [ - "UPHENO:0051801", - "UPHENO:0068565", - "HP:0000093", - "CHEBI:15841", - "HP:0040156", - "CHEBI:35605", - "CHEBI:36586", - "CHEBI:50047", - "CHEBI:33575", - "CHEBI:33709", - "UPHENO:0051930", - "HP:0001992", - "HP:0003355", - "HP:0000002", - "UPHENO:0075195", - "UPHENO:0080351", - "HP:0004322", - "UPHENO:0081423", - "UPHENO:0080352", - "UBERON:0011676", - "UPHENO:0086132", - "UPHENO:0086128", - "UBERON:0005172", - "UBERON:0002113", - "UBERON:0011143", - "UBERON:0003103", - "UPHENO:0002411", - "HP:0012211", - "HP:0010935", - "UBERON:0000489", - "UBERON:0002417", - "CHEBI:18133", - "UPHENO:0052116", - "CHEBI:33917", - "UPHENO:0051739", - "UPHENO:0081544", - "CHEBI:35381", - "UPHENO:0080659", - "UPHENO:0068058", - "HP:6000531", - "HP:0033354", - "UPHENO:0068054", - "UBERON:0015212", - "RO:0002577", - "UPHENO:0002896", - "UBERON:0000154", - "UPHENO:0069254", - "UPHENO:0041258", - "UPHENO:0031193", - "UPHENO:0015280", - "UBERON:0005055", - "HP:0003126", - "UBERON:0002513", - "UBERON:0010707", - "UPHENO:0086780", - "UBERON:0002495", - "UBERON:0010740", - "UBERON:0010758", - "UPHENO:0051635", - "HP:0040064", - "HP:0002979", - "HP:0011314", - "CHEBI:16541", - "UPHENO:0084763", - "UPHENO:0086628", - "HP:0002981", - "UBERON:0008784", - "UBERON:0000075", - "UBERON:0000916", - "UBERON:0000978", - "UPHENO:0003070", - "UBERON:0013701", - "HP:0002814", - "UPHENO:0086635", - "UBERON:0000475", - "UBERON:0004709", - "UBERON:0009569", - "UBERON:0002101", - "UBERON:0004769", - "UPHENO:0002830", - "UPHENO:0020041", - "UPHENO:0079873", - "UBERON:0003823", - "UBERON:0002091", - "UPHENO:0082542", - "UBERON:0010712", - "UBERON:0011249", - "CHEBI:15693", - "UBERON:0010538", - "UBERON:0002428", - "UBERON:0002103", - "HP:0002157", - "UBERON:0011582", - "UPHENO:0082129", - "UBERON:0010709", - "UPHENO:0080300", - "CHEBI:64709", - "UPHENO:0041591", - "UPHENO:0082835", - "UPHENO:0046284", - "CHEBI:38261", - "HP:0003110", - "HP:0003330", - "CHEBI:35352", - "HP:0000924", - "HP:0004348", - "BFO:0000002", - "GO:0008152", - "GO:0001503", - "HP:0004349", - "UPHENO:0084653", - "UPHENO:0086956", - "UBERON:0004381", - "HP:0002748", - "UPHENO:0076703", - "CHEBI:36587", - "UPHENO:0084654", - "UBERON:0010363", - "UBERON:0001474", - "UPHENO:0002803", - "UPHENO:0076727", - "UPHENO:0031310", - "CHEBI:16670", - "UPHENO:0082449", - "HP:0032943", - "CHEBI:38304", - "HP:0033127", - "UBERON:0000179", - "UBERON:0002390", - "UBERON:0034944", - "GO:0042592", - "HP:0000079", - "CHEBI:37577", - "UPHENO:0041098", - "UPHENO:0076285", - "UPHENO:0002832", - "CHEBI:26079", - "UBERON:0011216", - "HP:0006487", - "UBERON:0004122", - "UPHENO:0077858", - "UBERON:8450002", - "UPHENO:0082536", - "UPHENO:0002642", - "UBERON:0000064", - "UPHENO:0041610", - "UPHENO:0051900", - "UBERON:0000467", - "HP:0011277", - "UBERON:0000174", - "UPHENO:0046348", - "UBERON:0001088", - "UBERON:0015061", - "CHEBI:33241", - "UPHENO:0078550", - "HP:0011849", - "UPHENO:0002442", - "UPHENO:0080658", - "HP:0000119", - "UBERON:0001008", - "UBERON:0005913", - "UPHENO:0051763", - "UPHENO:0002536", - "UBERON:0001434", - "UBERON:0000061", - "UPHENO:0051686", - "CHEBI:24431", - "UPHENO:0082543", - "HP:0001942", - "UBERON:0000468", - "UPHENO:0068346", - "UPHENO:0081550", - "UPHENO:0068091", - "UPHENO:0081546", - "HP:0004360", - "HP:0003076", - "UPHENO:0068190", - "UPHENO:0041573", - "UPHENO:0068169", - "UBERON:0000178", - "UPHENO:0082538", - "CHEBI:36357", - "UPHENO:0084767", - "UBERON:0000465", - "UPHENO:0077821", - "UPHENO:0002964", - "CHEBI:55370", - "UPHENO:0068292", - "UPHENO:0068491", - "UPHENO:0012541", - "UPHENO:0049874", - "UPHENO:0000543", - "UPHENO:0052038", - "HP:0004364", - "UBERON:0006058", - "UPHENO:0051804", - "CHEBI:36963", - "UPHENO:0081424", - "UPHENO:0002332", - "UBERON:0001969", - "UPHENO:0041226", - "CHEBI:33582", - "CHEBI:36360", - "UPHENO:0082875", - "UPHENO:0041536", - "CHEBI:72695", - "HP:0003259", - "UPHENO:0004459", - "CHEBI:24651", - "UPHENO:0068251", - "UBERON:0000026", - "UPHENO:0001003", - "UPHENO:0020584", - "CHEBI:33670", - "CHEBI:24532", - "CHEBI:33675", - "UBERON:0002471", - "UPHENO:0048707", - "CHEBI:25806", - "UPHENO:0076289", - "CHEBI:25693", - "UPHENO:0076740", - "CHEBI:38101", - "CHEBI:78616", - "CHEBI:50860", - "CHEBI:26082", - "UPHENO:0075159", - "CHEBI:23443", - "UPHENO:0076692", - "UPHENO:0051670", - "UPHENO:0068538", - "UPHENO:0068040", - "CHEBI:33661", - "UPHENO:0051894", - "UPHENO:0075952", - "BFO:0000003", - "UPHENO:0079534", - "CHEBI:17234", - "UPHENO:0076286", - "HP:0001507", - "UPHENO:0068064", - "PR:000050567", - "UPHENO:0081547", - "HP:0001941", - "HP:0430071", - "HP:0012072", - "CHEBI:36359", - "CHEBI:25367", - "CHEBI:5686", - "UBERON:0006314", - "UPHENO:0051640", - "UPHENO:0068442", - "UPHENO:0078554", - "CHEBI:33595", - "HP:0012100", - "UPHENO:0082467", - "HP:0012337", - "UBERON:0004120", - "HP:0020129", - "UPHENO:0081548", - "UBERON:0034925", - "UPHENO:0079536", - "CHEBI:37622", - "CHEBI:24833", - "UPHENO:0068049", - "UBERON:0001977", - "CHEBI:33304", - "HP:0012599", - "UPHENO:0001005", - "HP:0001939", - "UBERON:0000463", - "CHEBI:33674", - "UPHENO:0000541", - "UPHENO:0046286", - "HP:0032180", - "HP:0011844", - "UBERON:0010912", - "CHEBI:23367", - "UPHENO:0001001", - "UBERON:0004288", - "UPHENO:0068352", - "CHEBI:36962", - "CHEBI:33608", - "UBERON:0010000", - "CHEBI:33839", - "UPHENO:0068472", - "UPHENO:0075902", - "CHEBI:16737", - "HP:0000001", - "HP:0031980", - "UPHENO:0068110", - "UBERON:0005173", - "CHEBI:32988", - "UBERON:0002529", - "UBERON:0004765", - "UPHENO:0075696", - "UPHENO:0077826", - "UBERON:0002204", - "CHEBI:33285", - "CHEBI:33832", - "HP:0001871", - "UPHENO:0068971", - "CHEBI:51143", - "PATO:0000001", - "UPHENO:0068495", - "HP:0000083", - "HP:0000077", - "UPHENO:0051630", - "BFO:0000004", - "UPHENO:0068144", - "CHEBI:16646", - "CHEBI:33302", - "UBERON:0002100", - "HP:0012591", - "UBERON:0005177", - "UBERON:0004375", - "CHEBI:33579", - "UBERON:0004708", - "CHEBI:33256", - "CHEBI:26020", - "UPHENO:0051847", - "BFO:0000040", - "UBERON:0001062", - "BFO:0000015", - "UPHENO:0082834", - "HP:0001510", - "UBERON:0000062", - "UBERON:0013702", - "UPHENO:0051753", - "HP:0002813", - "GO:0008150", - "UPHENO:0068089", - "HP:0003109", - "UPHENO:0049587", - "UBERON:0002193", - "CHEBI:24995", - "BFO:0000001", - "BFO:0000020", - "HP:0011842", - "UPHENO:0051668", - "HP:0000118", - "UPHENO:0068247", - "HP:0040068", - "GO:0032501", - "GO:0040007", - "HP:0000940", - "UPHENO:0082539", - "UPHENO:0001002", - ], - "has_phenotype_closure_label": [ - "peptide", - "Abnormal urine protein level", - "increased level of protein polypeptide chain in independent continuant", - "Low-molecular-weight proteinuria", - "protein polypeptide chain", - "abnormal independent continuant protein polypeptide chain level", - "abnormal independent continuant carboxylic acid level", - "increased level of organic acid in urine", - "Aminoaciduria", - "organic amino compound", - "oxoacid", - "Organic aciduria", - "carbon oxoacid", - "organic oxo compound", - "decreased height of the anatomical entity", - "decreased size of the multicellular organism", - "abnormal size of anatomical entity", - "Abnormality of body height", - "decreased height of the multicellular organism", - "abnormal upper urinary tract", - "abnormality of kidney physiology", - "Abnormal renal physiology", - "abdominal segment element", - "abnormal kidney", - "subdivision of trunk", - "main body axis", - "subdivision of organism along main body axis", - "kidney", - "trunk region element", - "non-functional kidney", - "non-functional anatomical entity", - "polypeptide", - "aldose", - "increased level of monosaccharide in independent continuant", - "glucose", - "aldohexose", - "Glycosuria", - "abnormal independent continuant glucose level", - "Abnormal urine metabolite level", - "increased level of monosaccharide in urine", - "Abnormal urinary organic compound level", - "abnormal urine glucose level", - "subdivision of organism along appendicular axis", - "hindlimb", - "paired limb/fin skeleton", - "paired limb/fin", - "Abnormality of limbs", - "Abnormal appendicular skeleton morphology", - "macromolecule", - "Bowing of the legs", - "Aciduria", - "zone of organ", - "organism subdivision", - "pelvic appendage", - "limb", - "skeleton", - "Bowing of the long bones", - "curved hindlimb zeugopod", - "endochondral element", - "limb bone", - "organ part", - "Abnormality of the kidney", - "abnormal diaphysis morphology in the independent continuant", - "posterior region of body", - "abnormal limb bone morphology", - "abnormal limb bone", - "increased level of amino acid in urine", - "abnormal anatomical entity morphology in the appendage girdle complex", - "limb skeleton subdivision", - "abdomen", - "curvature anatomical entity", - "pelvic complex", - "Abnormality of the calf", - "hydrogen molecular entity", - "abnormal appendicular skeleton morphology", - "diaphysis", - "increased level of glucose in independent continuant", - "abnormal limb morphology", - "curved anatomical entity in independent continuant", - "abnormal leg", - "zone of long bone", - "appendage girdle complex", - "limb segment", - "endochondral bone", - "subdivision of skeletal system", - "shape long bone", - "lateral structure", - "carboxylic acid", - "Abnormality of limb bone", - "independent continuant", - "curved anatomical entity", - "abnormal hindlimb zeugopod morphology", - "abdomen element", - "Decreased anatomical entity mass density", - "abnormal hindlimb zeugopod", - "abnormal hindlimb zeugopod, curved", - "occurrent", - "abnormal skeletal system morphology", - "heteromonocyclic compound", - "organ", - "appendicular skeleton", - "All", - "abnormal anatomical entity mass density", - "abnormal urine amino acid level", - "Abnormal urine pH", - "bone element", - "long bone", - "Abnormal bone ossification", - "abnormal anatomical entity, curved", - "decreased size of the anatomical entity", - "musculoskeletal system", - "abnormal biological_process", - "abnormal anatomical entity morphology", - "ossification", - "abnormal role independent continuant level", - "subdivision of skeleton", - "increased level of chemical entity in independent continuant", - "skeletal system", - "abnormal skeletal system", - "Abnormality of urine homeostasis", - "Renal insufficiency", - "increased level of chemical entity in urine", - "compound organ", - "Hyperphosphaturia", - "abnormal size of multicellular organism", - "renal system", - "abnormal role urine level", - "carbohydrate", - "homeostatic process", - "Abnormality of the urinary system physiology", - "abnormal urine chemical entity level", - "s-block molecular entity", - "genitourinary system", - "abnormality of anatomical entity height", - "excretory system", - "Abnormal urinary electrolyte concentration", - "multi-limb segment region", - "leg", - "abnormal phosphate level", - "Proteinuria", - "increased level of creatinine in independent continuant", - "phosphorus molecular entity", - "carboxamide", - "increased level of phosphate in independent continuant", - "zone of bone organ", - "Abnormality of bone mineral density", - "zeugopod", - "oxoacid derivative", - "abnormal chemical entity level", - "Reduced bone mineral density", - "p-block molecular entity", - "abnormal hematopoietic system", - "abnormal urine phosphate level", - "organic acid", - "shape hindlimb zeugopod", - "heteroatomic molecular entity", - "abnormality of renal system physiology", - "abnormal acid bodily fluid level", - "Abnormality of acid-base homeostasis", - "Abnormal diaphysis morphology", - "increased level of phosphate in urine", - "increased blood serum role level", - "increased independent continuant acid level", - "appendicular skeletal system", - "increased bodily fluid acid level", - "abnormal amino acid level", - "carbonyl compound", - "trunk", - "multicellular anatomical structure", - "Acidosis", - "haemolymphatic fluid", - "hematopoietic system", - "paired limb/fin segment", - "blood plasma", - "curved long bone", - "skeletal element", - "multicellular organismal process", - "pnictogen molecular entity", - "bodily fluid", - "carbon group molecular entity", - "Abnormality of metabolism/homeostasis", - "Abnormal circulating creatinine concentration", - "Short stature", - "abnormal metabolite independent continuant level", - "Abnormality of the urinary system", - "anatomical structure", - "Abnormality of blood and blood-forming tissues", - "lactam", - "increased level of carboxylic acid in independent continuant", - "mesoderm-derived structure", - "molecule", - "diazolidine", - "increased level of organic molecular entity in independent continuant", - "phosphorus oxoacids and derivatives", - "increased level of chemical entity in bodily fluid", - "abnormality of anatomical entity physiology", - "Rickets", - "increased level of chemical entity in blood plasma", - "abnormal independent continuant amino acid level", - "phenotype", - "abnormal renal system", - "abnormal role bodily fluid level", - "increased level of carboxylic acid in urine", - "urine", - "organism substance", - "increased blood role level", - "Abnormal urine phosphate concentration", - "increased level of chemical entity in blood", - "Decreased bone element mass density", - "abnormal blood plasma chemical entity level", - "excreta", - "abnormal shape of continuant", - "abnormal multicellular organism chemical entity level", - "Phenotypic abnormality", - "metabolic process", - "abnormal anatomical entity morphology in the pelvic complex", - "hindlimb zeugopod", - "organooxygen compound", - "Azotemia", - "abnormal role blood serum level", - "Abnormality of the musculoskeletal system", - "chemical entity", - "cavitated compound organ", - "chalcogen molecular entity", - "increased independent continuant role level", - "anatomical collection", - "oxygen molecular entity", - "shape anatomical entity", - "increased level of nitrogen molecular entity in blood", - "Abnormal circulating metabolite concentration", - "organic molecular entity", - "system", - "increased level of nitrogen molecular entity in independent continuant", - "Abnormal urine carboxylic acid level", - "delayed growth", - "abdominal segment of trunk", - "abnormal limb", - "abnormal blood creatinine level", - "cyclic amide", - "abnormal anatomical entity", - "organonitrogen heterocyclic compound", - "body proper", - "organic heteromonocyclic compound", - "Abnormal long bone morphology", - "creatinine", - "abnormal role blood level", - "phosphoric acid derivative", - "organic molecule", - "increased level of creatinine in blood", - "increased level of organic acid in independent continuant", - "increased level of glucose in urine", - "Abnormal circulating organic compound concentration", - "molecular entity", - "organochalcogen compound", - "nitrogen molecular entity", - "abnormal anatomical entity morphology in the independent continuant", - "organic heterocyclic compound", - "carbohydrates and carbohydrate derivatives", - "bone of appendage girdle complex", - "abnormal diaphysis morphology", - "abnormal independent continuant phosphate level", - "amide", - "protein-containing material entity", - "abnormal genitourinary system", - "main group molecular entity", - "abnormal blood serum chemical entity level", - "heterocyclic compound", - "abnormal blood chemical entity level", - "polyatomic entity", - "Abnormal skeletal morphology", - "limb endochondral element", - "anatomical entity", - "increased level of amino acid in independent continuant", - "increased level of chemical entity", - "organ system subdivision", - "increased level of creatinine in blood serum", - "abnormal independent continuant nitrogen molecular entity level", - "amino acid", - "decreased size of the anatomical entity in the independent continuant", - "abnormal independent continuant carbohydrate level", - "bone of free limb or fin", - "increased level of chemical entity in blood serum", - "appendage", - "material anatomical entity", - "material entity", - "increased bodily fluid role level", - "phosphorus oxoacid derivative", - "biological_process", - "abnormal independent continuant creatinine level", - "Metabolic acidosis", - "skeleton of limb", - "Growth abnormality", - "imidazolidines", - "multicellular organism", - "delayed biological_process", - "Abnormality of the skeletal system", - "Abnormality of the genitourinary system", - "quality", - "process", - "increased level of protein polypeptide chain in urine", - "abnormality of multicellular organism height", - "abnormal independent continuant chemical entity level", - "anatomical system", - "shape anatomical entity in independent continuant", - "abnormal growth", - "imidazolidinone", - "hemolymphoid system", - "Abnormality of limb bone morphology", - "phenotype by ontology source", - "abnormal phenotype by ontology source", - "cyclic compound", - "organic cyclic compound", - "curvature anatomical entity in independent continuant", - "blood serum", - "abnormal bone element mass density", - "specifically dependent continuant", - "abnormal long bone morphology", - "lower limb segment", - "entity", - "organonitrogen compound", - "hydroxides", - "Abnormality of the upper urinary tract", - "growth", - "hexose", - "abnormal hindlimb morphology", - "Abnormal bone structure", - "phosphate", - "increased independent continuant base level", - "upper urinary tract", - "Abnormal homeostasis", - "abnormal acid independent continuant level", - "Elevated circulating creatinine concentration", - "monosaccharide", - "Abnormal circulating nitrogen compound concentration", - "continuant", - "Growth delay", - "abnormal blood nitrogen molecular entity level", - "Abnormality of the lower limb", - "Elevated urinary carboxylic acid", - "monocyclic compound", - "blood", - "primary amide", - "heteroorganic entity", - ], - "has_phenotype_count": 11, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0024525", - "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 1", - "full_name": None, - "deprecated": None, - "description": None, - "xref": ["DOID:0080757", "OMIM:134600"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": [ - "DeToni-Debré-Fanconi syndrome", - "FRTS1", - "Fanconi renotubular syndrome", - "Fanconi renotubular syndrome 1", - "Fanconi syndrome without cystinosis", - "Luder-Sheldon syndrome", - "adult Fanconi syndrome", - "primary Fanconi renal syndrome", - "primary Fanconi renotubular syndrome", - "renal Fanconi syndrome", - ], - "uri": None, - "iri": None, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0002749", - "HP:0034359", - "HP:0001324", - "HP:0003155", - "HP:0001942", - "HP:0002148", - "HP:0000124", - "HP:0003109", - "HP:0003648", - "HP:0002900", - "HP:0002748", - "HP:0003076", - "HP:0003355", - "HP:0004322", - "HP:0003126", - "HP:0000083", - ], - "has_phenotype_label": [ - "Osteomalacia", - "Impaired renal tubular reabsorption of phosphate", - "Muscle weakness", - "Elevated circulating alkaline phosphatase concentration", - "Metabolic acidosis", - "Hypophosphatemia", - "Renal tubular dysfunction", - "Hyperphosphaturia", - "Lacticaciduria", - "Hypokalemia", - "Rickets", - "Glycosuria", - "Aminoaciduria", - "Short stature", - "Low-molecular-weight proteinuria", - "Renal insufficiency", - ], - "has_phenotype_closure": [ - "UPHENO:0086132", - "UPHENO:0086128", - "UPHENO:0051801", - "HP:0003126", - "CHEBI:33256", - "CHEBI:37622", - "UPHENO:0068565", - "CHEBI:16670", - "HP:0000093", - "CHEBI:15841", - "CHEBI:16541", - "HP:0000002", - "UPHENO:0015280", - "UPHENO:0075195", - "UPHENO:0080351", - "UPHENO:0020584", - "HP:0004322", - "HP:0001510", - "UPHENO:0081423", - "CHEBI:64709", - "CHEBI:25367", - "HP:0040156", - "CHEBI:35605", - "CHEBI:36586", - "CHEBI:33575", - "UPHENO:0068040", - "CHEBI:33709", - "UPHENO:0051930", - "UPHENO:0082542", - "UPHENO:0012541", - "UPHENO:0049874", - "UPHENO:0000543", - "UPHENO:0068491", - "CHEBI:24651", - "CHEBI:72695", - "CHEBI:24833", - "HP:0003355", - "UPHENO:0051670", - "UPHENO:0068538", - "CHEBI:18133", - "CHEBI:15693", - "UPHENO:0052116", - "CHEBI:33917", - "UPHENO:0051635", - "UPHENO:0078554", - "CHEBI:35381", - "CHEBI:36962", - "CHEBI:25806", - "UPHENO:0080659", - "HP:6000531", - "HP:0033354", - "UPHENO:0068054", - "CHEBI:33521", - "CHEBI:36914", - "CHEBI:33504", - "CHEBI:36916", - "CHEBI:29103", - "UPHENO:0000541", - "CHEBI:33674", - "HP:0020129", - "UPHENO:0081548", - "CHEBI:17234", - "UPHENO:0076286", - "UPHENO:0051958", - "UPHENO:0051898", - "UPHENO:0051645", - "UPHENO:0034199", - "HP:0011042", - "GO:0055080", - "HP:0010929", - "CHEBI:33250", - "CHEBI:26216", - "HP:0002748", - "CHEBI:36915", - "CHEBI:60242", - "CHEBI:25213", - "CHEBI:25414", - "UPHENO:0068511", - "UPHENO:0051640", - "CHEBI:60911", - "UPHENO:0051739", - "UPHENO:0081544", - "HP:0003109", - "UPHENO:0068352", - "UPHENO:0051900", - "CHEBI:33304", - "HP:0012599", - "UBERON:0000174", - "UBERON:0001088", - "UPHENO:0068292", - "CHEBI:33559", - "CHEBI:24870", - "CHEBI:33259", - "UPHENO:0034217", - "HP:0031980", - "UPHENO:0068110", - "HP:0100529", - "CHEBI:33238", - "CHEBI:24867", - "CHEBI:37577", - "UPHENO:0004459", - "GO:0040007", - "UPHENO:0050080", - "UPHENO:0051960", - "CHEBI:26079", - "HP:0002148", - "UPHENO:0034351", - "CHEBI:33608", - "UBERON:0010000", - "GO:0048878", - "UPHENO:0046348", - "UBERON:0000179", - "PR:000000001", - "UBERON:0002390", - "CHEBI:33241", - "UPHENO:0046286", - "UBERON:0001630", - "HP:0032180", - "UPHENO:0080352", - "UPHENO:0051186", - "CHEBI:28358", - "CHEBI:24431", - "UPHENO:0082543", - "UPHENO:0079536", - "UPHENO:0068064", - "UPHENO:0079822", - "UPHENO:0082539", - "UBERON:0000479", - "UBERON:0004120", - "HP:0012337", - "HP:0001942", - "UBERON:0000468", - "UPHENO:0081550", - "HP:0004360", - "UPHENO:0002536", - "UBERON:0001434", - "UPHENO:0051763", - "UPHENO:0068169", - "UBERON:0000178", - "UPHENO:0082538", - "GO:0055062", - "CHEBI:36357", - "UBERON:0000025", - "HP:0001871", - "HP:0010930", - "CHEBI:33285", - "HP:0000924", - "CHEBI:35352", - "UPHENO:0069254", - "CHEBI:36080", - "CHEBI:33839", - "UBERON:0011216", - "HP:0034684", - "CHEBI:33675", - "UPHENO:0068058", - "HP:0004379", - "UPHENO:0068091", - "UPHENO:0081546", - "UBERON:0004211", - "UPHENO:0046362", - "CHEBI:50047", - "CHEBI:78616", - "UPHENO:0034438", - "CHEBI:50860", - "CHEBI:26082", - "BFO:0000002", - "GO:0001503", - "GO:0008152", - "HP:0003155", - "UPHENO:0076289", - "UPHENO:0048707", - "CHEBI:36360", - "CHEBI:33582", - "UPHENO:0051280", - "HP:0000001", - "UPHENO:0075902", - "PR:000003968", - "UPHENO:0068971", - "UPHENO:0034391", - "CHEBI:51143", - "HP:0001992", - "CHEBI:33694", - "UBERON:0002204", - "CHEBI:33695", - "UBERON:0005177", - "CHEBI:33579", - "UPHENO:0051668", - "HP:0003076", - "UBERON:0000383", - "UPHENO:0002320", - "HP:0001324", - "UBERON:0004765", - "PR:000018263", - "UPHENO:0002816", - "HP:0004348", - "UPHENO:0075666", - "HP:0003110", - "HP:0003330", - "UPHENO:0046284", - "HP:0011036", - "HP:0011804", - "UPHENO:0068089", - "UBERON:0015212", - "HP:0003011", - "UPHENO:0081547", - "PR:000050567", - "UBERON:0009569", - "UBERON:0011676", - "UBERON:0001015", - "UBERON:0000463", - "CHEBI:33296", - "UBERON:0004111", - "GO:0042592", - "HP:0000079", - "UPHENO:0051937", - "UPHENO:0080556", - "HP:0002900", - "UBERON:0001231", - "UBERON:8450002", - "UPHENO:0049587", - "UBERON:0001008", - "HP:0000083", - "UPHENO:0068495", - "HP:0000077", - "HP:0000124", - "CHEBI:22314", - "UPHENO:0082835", - "UBERON:0003103", - "CHEBI:24835", - "UPHENO:0002411", - "HP:0012211", - "UBERON:0000467", - "HP:0011277", - "CHEBI:60004", - "UPHENO:0049628", - "CHEBI:23367", - "UBERON:0003914", - "UBERON:0000483", - "GO:0003014", - "GO:0003008", - "HP:0010935", - "UBERON:0004819", - "UPHENO:0082834", - "UPHENO:0002803", - "HP:0001941", - "UBERON:0005090", - "GO:0008150", - "UBERON:0007684", - "UPHENO:0066739", - "BFO:0000020", - "UPHENO:0081777", - "UBERON:0004122", - "UBERON:0000916", - "UBERON:0009773", - "UBERON:0000064", - "UPHENO:0068144", - "CHEBI:16646", - "UPHENO:0079824", - "CHEBI:33302", - "UBERON:0013702", - "CHEBI:33318", - "UBERON:0006314", - "UPHENO:0066943", - "CHEBI:37247", - "UPHENO:0080555", - "UPHENO:0049904", - "CHEBI:26217", - "UBERON:0000489", - "CHEBI:26020", - "UPHENO:0049709", - "UPHENO:0051847", - "BFO:0000040", - "UPHENO:0001003", - "UBERON:0001285", - "HP:0034359", - "UPHENO:0024906", - "UBERON:0000465", - "UPHENO:0082943", - "UPHENO:0051191", - "UPHENO:0002642", - "CHEBI:36963", - "UPHENO:0051804", - "GO:0070293", - "HP:0011038", - "UBERON:0000062", - "BFO:0000003", - "HP:0001939", - "UPHENO:0001005", - "UPHENO:0081424", - "HP:0003648", - "UPHENO:0002332", - "UPHENO:0066927", - "HP:0001507", - "GO:0098771", - "HP:0012072", - "CHEBI:36359", - "HP:0003111", - "CHEBI:23906", - "HP:0012379", - "UPHENO:0001002", - "UPHENO:0075696", - "UPHENO:0077821", - "UPHENO:0002964", - "UPHENO:0052008", - "UBERON:0006555", - "CHEBI:32988", - "UBERON:0005173", - "HP:0002749", - "HP:0004349", - "UPHENO:0084653", - "BFO:0000001", - "UPHENO:0068247", - "GO:0050801", - "GO:0032501", - "HP:0012591", - "UBERON:0002100", - "UBERON:0001062", - "HP:0032943", - "HP:0033127", - "HP:0011849", - "UPHENO:0002442", - "CHEBI:59999", - "UBERON:0002193", - "HP:0011842", - "UBERON:0013701", - "UPHENO:0075159", - "UPHENO:0076692", - "UPHENO:0068094", - "HP:0000118", - "UPHENO:0082875", - "UPHENO:0051686", - "UBERON:0000061", - "UBERON:0005172", - "CHEBI:36587", - "UPHENO:0084654", - "BFO:0000004", - "UPHENO:0080658", - "HP:0000119", - "UBERON:0000475", - "UPHENO:0046283", - "UPHENO:0001001", - "UPHENO:0051709", - "BFO:0000015", - "PR:000064867", - "UPHENO:0034253", - "PATO:0000001", - "UPHENO:0002832", - "UBERON:0002417", - "UPHENO:0076703", - "UBERON:0011143", - "UBERON:0002113", - "UBERON:0001474", - ], - "has_phenotype_closure_label": [ - "peptide", - "Abnormal urine protein level", - "increased level of protein polypeptide chain in independent continuant", - "primary amide", - "amide", - "abnormal independent continuant protein polypeptide chain level", - "abnormal growth", - "Abnormality of body height", - "delayed biological_process", - "delayed growth", - "Abnormal urine carboxylic acid level", - "abnormal independent continuant carboxylic acid level", - "increased level of organic acid in urine", - "Aminoaciduria", - "increased level of nitrogen molecular entity in independent continuant", - "organic molecule", - "carboxylic acid", - "molecule", - "oxoacid", - "decreased height of the anatomical entity", - "organic oxo compound", - "abnormal independent continuant nitrogen molecular entity level", - "carbon oxoacid", - "increased level of amino acid in urine", - "polypeptide", - "aldose", - "decreased size of the anatomical entity in the independent continuant", - "amino acid", - "abnormal independent continuant carbohydrate level", - "increased level of monosaccharide in independent continuant", - "glucose", - "Glycosuria", - "abnormal independent continuant glucose level", - "increased level of organic acid in independent continuant", - "increased level of glucose in urine", - "oxygen molecular entity", - "increased level of monosaccharide in urine", - "increased level of glucose in independent continuant", - "Abnormal urinary organic compound level", - "abnormal urine glucose level", - "abnormal independent continuant potassium atom level", - "decreased size of the multicellular organism", - "alkali metal molecular entity", - "Short stature", - "abnormal metabolite independent continuant level", - "abnormal independent continuant potassium(1+) level", - "Abnormal urine metabolite level", - "atom", - "abnormal blood potassium atom level", - "potassium molecular entity", - "monoatomic cation homeostasis", - "organooxygen compound", - "decreased level of potassium atom in blood", - "potassium atom", - "inorganic cation", - "decreased level of potassium atom in independent continuant", - "increased level of organic molecular entity in independent continuant", - "abnormal potassium atom level", - "hydrogen molecular entity", - "Abnormal blood cation concentration", - "abnormal role blood level", - "inorganic ion", - "Rickets", - "monovalent inorganic cation", - "metal cation", - "monoatomic monocation", - "s-block element atom", - "main group element atom", - "Elevated urinary carboxylic acid", - "Abnormal blood potassium concentration", - "metal atom", - "decreased height of the multicellular organism", - "inorganic molecular entity", - "Low-molecular-weight proteinuria", - "potassium(1+)", - "Abnormal blood monovalent inorganic cation concentration", - "decreased role independent continuant level", - "abnormal monoatomic cation homeostasis", - "Lacticaciduria", - "aldohexose", - "cation", - "chemical substance", - "racemate", - "Aciduria", - "mixture", - "increased level of rac-lactic acid in urine", - "increased level of rac-lactic acid in independent continuant", - "Abnormality of urine homeostasis", - "Renal insufficiency", - "abnormal blood potassium(1+) level", - "increased level of chemical entity in urine", - "excreta", - "Abnormal urine phosphate concentration", - "abnormal urine chemical entity level", - "Abnormal urinary electrolyte concentration", - "carboxamide", - "increased level of phosphate in independent continuant", - "increased level of phosphate in urine", - "haemolymphatic fluid", - "hematopoietic system", - "blood", - "Hypophosphatemia", - "carbohydrate", - "abnormal role urine level", - "homeostatic process", - "protein polypeptide chain", - "Abnormal blood ion concentration", - "increased independent continuant acid level", - "abnormal blood phosphate level", - "abnormal blood chemical entity level", - "alkali metal atom", - "abnormal homeostatic process", - "Proteinuria", - "phosphorus molecular entity", - "decreased role blood level", - "phosphate ion homeostasis", - "alkali metal cation", - "decreased level of phosphate in blood", - "decreased level of chemical entity in blood", - "increased level of protein polypeptide chain in urine", - "abnormality of multicellular organism height", - "anatomical system", - "abnormal independent continuant chemical entity level", - "abnormal blood monoatomic ion level", - "increased level of carboxylic acid in independent continuant", - "mesoderm-derived structure", - "increased level of chemical entity in bodily fluid", - "phosphorus oxoacids and derivatives", - "increased independent continuant role level", - "monoatomic entity", - "epithelium", - "phosphorus oxoacid derivative", - "ion", - "abdomen", - "abnormal phosphate ion homeostasis", - "anatomical structure", - "Abnormality of the urinary system", - "Abnormality of blood and blood-forming tissues", - "phosphoric acid derivative", - "material entity", - "inorganic ion homeostasis", - "monosaccharide", - "Abnormal blood phosphate concentration", - "bodily fluid", - "abnormal multicellular organism chemical entity level", - "abnormal chemical homeostasis", - "abnormal acid independent continuant level", - "Abnormality of acid-base homeostasis", - "abnormal role independent continuant level", - "information biomacromolecule", - "increased bodily fluid role level", - "Abnormality of metabolism/homeostasis", - "carbon group molecular entity", - "increased level of amino acid in independent continuant", - "increased level of chemical entity", - "increased level of protein", - "protein-containing molecular entity", - "molecular entity", - "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", - "abnormal anatomical entity morphology in the independent continuant", - "organochalcogen compound", - "nitrogen molecular entity", - "material anatomical entity", - "Abnormal enzyme concentration or activity", - "Growth abnormality", - "increased level of alkaline phosphatase, tissue-nonspecific isozyme", - "alkaline phosphatase, tissue-nonspecific isozyme", - "decreased level of phosphate in independent continuant", - "biomacromolecule", - "protein", - "heteroorganic entity", - "organonitrogen compound", - "polyatomic entity", - "increased level of carboxylic acid in urine", - "urine", - "organism substance", - "monoatomic ion homeostasis", - "Elevated circulating alkaline phosphatase concentration", - "decreased anatomical entity strength", - "Muscle weakness", - "abnormal monoatomic ion homeostasis", - "muscle structure", - "Hypokalemia", - "hemolymphoid system", - "Abnormality of the musculature", - "abnormality of kidney physiology", - "Abnormal muscle physiology", - "musculature", - "abnormal amino acid level", - "carbonyl compound", - "multicellular anatomical structure", - "trunk", - "Acidosis", - "nephron tubule", - "renal tubule", - "Abnormality of the skeletal system", - "uriniferous tubule", - "abnormal independent continuant monoatomic ion level", - "abnormal acid bodily fluid level", - "nephron epithelium", - "anatomical conduit", - "organic molecular entity", - "nephron", - "epithelial tube", - "Abnormal renal physiology", - "Abnormality of the kidney", - "chalcogen molecular entity", - "cavitated compound organ", - "skeletal system", - "system process", - "increased level of chemical entity in independent continuant", - "abnormal phenotype by ontology source", - "organic acid", - "heteroatomic molecular entity", - "Abnormality of alkaline phosphatase level", - "organ part", - "abnormal kidney", - "oxoacid derivative", - "Abnormal circulating enzyme concentration or activity", - "Abnormality of bone mineral density", - "abdominal segment of trunk", - "elemental molecular entity", - "subdivision of trunk", - "elemental potassium", - "main body axis", - "abdomen element", - "Decreased anatomical entity mass density", - "abnormal musculature", - "rac-lactic acid", - "subdivision of organism along main body axis", - "s-block molecular entity", - "genitourinary system", - "abnormal independent continuant phosphate level", - "protein-containing material entity", - "macromolecule", - "abnormality of anatomical entity physiology", - "kidney epithelium", - "abnormally decreased functionality of the anatomical entity", - "Organic aciduria", - "amino acid chain", - "monoatomic cation", - "renal absorption", - "increased independent continuant base level", - "Abnormal homeostasis", - "upper urinary tract", - "excretory tube", - "main group molecular entity", - "abnormal genitourinary system", - "Phenotypic abnormality", - "metabolic process", - "Renal tubular dysfunction", - "growth", - "hydroxides", - "Abnormality of the upper urinary tract", - "carbohydrates and carbohydrate derivatives", - "muscle organ", - "abnormal anatomical entity mass density", - "All", - "kidney", - "increased bodily fluid acid level", - "abnormality of renal system physiology", - "Hyperphosphaturia", - "compound organ", - "lateral structure", - "Abnormality of renal excretion", - "non-functional anatomical entity", - "abnormality of muscle organ physiology", - "abnormal independent continuant amino acid level", - "phenotype", - "abnormal renal system", - "renal system process", - "chemical entity", - "Abnormality of the musculoskeletal system", - "abnormal size of anatomical entity", - "Impaired renal tubular reabsorption of phosphate", - "tissue", - "phosphate", - "hexose", - "Abnormal bone structure", - "abdominal segment element", - "pnictogen molecular entity", - "multicellular organismal process", - "skeletal element", - "entity", - "Osteomalacia", - "decreased muscle organ strength", - "abnormal renal absorption", - "Growth delay", - "musculature of body", - "occurrent", - "abnormal skeletal system morphology", - "abnormal role bodily fluid level", - "Abnormality of the genitourinary system", - "quality", - "process", - "body proper", - "abnormal urine amino acid level", - "Abnormal urine pH", - "bone element", - "continuant", - "Decreased bone element mass density", - "abnormal anatomical entity morphology", - "abnormal biological_process", - "ossification", - "abnormal upper urinary tract", - "specifically dependent continuant", - "abnormal bone element mass density", - "independent continuant", - "multicellular organism", - "Abnormal bone ossification", - "monoatomic ion", - "decreased level of chemical entity in independent continuant", - "anatomical entity", - "Abnormal skeletal morphology", - "Abnormality of the urinary system physiology", - "abnormal renal system process", - "decreased level of chemical entity", - "trunk region element", - "decreased size of the anatomical entity", - "musculoskeletal system", - "Metabolic acidosis", - "non-functional kidney", - "abnormally decreased functionality of the nephron tubule", - "biological_process", - "organic amino compound", - "abnormal chemical entity level", - "Reduced bone mineral density", - "Abnormal circulating metabolite concentration", - "abnormality of anatomical entity height", - "excretory system", - "abnormal size of multicellular organism", - "renal system", - "abnormal skeletal system", - "phenotype by ontology source", - "abnormal protein level", - "Abnormal renal tubular resorption", - "chemical homeostasis", - "abnormal anatomical entity", - "abnormal urine phosphate level", - "abnormal hematopoietic system", - "p-block molecular entity", - "anatomical entity dysfunction in independent continuant", - "organism subdivision", - "organ", - "organ system subdivision", - "abnormal phosphate level", - "tube", - ], - "has_phenotype_count": 16, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0044325", - "category": "biolink:Disease", - "name": "Fanconi anemia, complementation group W", - "full_name": None, - "deprecated": None, - "description": None, - "xref": ["OMIM:617784", "UMLS:C4521564"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": ["FANCW", "Fanconi anemia, complementation group W"], - "uri": None, - "iri": None, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0002247", - "HP:0002863", - "HP:0000252", - "HP:0002984", - "HP:0002119", - "HP:0009777", - "HP:0001510", - "HP:0001511", - "HP:0001748", - "HP:0000824", - "HP:0002518", - "HP:0002308", - "HP:0031689", - "HP:0011800", - "HP:0000089", - "HP:0410049", - ], - "has_phenotype_label": [ - "Duodenal atresia", - "Myelodysplasia", - "Microcephaly", - "Hypoplasia of the radius", - "Ventriculomegaly", - "Absent thumb", - "Growth delay", - "Intrauterine growth retardation", - "Polysplenia", - "Decreased response to growth hormone stimulation test", - "Abnormal periventricular white matter morphology", - "Chiari malformation", - "Megakaryocyte dysplasia", - "Midface retrusion", - "Renal hypoplasia", - "Abnormal radial ray morphology", - ], - "has_phenotype_closure": [ - "UPHENO:0076779", - "HP:0012210", - "UBERON:0004122", - "UPHENO:0002642", - "UPHENO:0002803", - "UPHENO:0075182", - "UBERON:0000489", - "HP:0008678", - "UBERON:0001008", - "UBERON:0001444", - "HP:0000271", - "UPHENO:0081227", - "HP:0000309", - "HP:0025354", - "UPHENO:0086172", - "CL:0001035", - "UBERON:0000479", - "HP:0012143", - "CL:0002092", - "CL:0000763", - "HP:0031689", - "HP:0002438", - "UPHENO:0020013", - "UBERON:0004733", - "UPHENO:0076957", - "UPHENO:0076720", - "UPHENO:0072814", - "UBERON:0002028", - "UBERON:0002037", - "HP:0001317", - "HP:0005561", - "UBERON:0005162", - "HP:0002500", - "UBERON:0001869", - "HP:0002518", - "UPHENO:0074037", - "UPHENO:0021803", - "UPHENO:0073937", - "HP:0010993", - "UBERON:0002437", - "UPHENO:0087902", - "UBERON:0002316", - "HP:0002180", - "UBERON:0003544", - "UPHENO:0059829", - "GO:0023052", - "GO:0032940", - "UPHENO:0086771", - "HP:0000864", - "HP:0000818", - "UPHENO:0004618", - "UPHENO:0082875", - "UBERON:0001894", - "UBERON:0002196", - "UBERON:0000178", - "HP:0011800", - "HP:0011747", - "UPHENO:0075772", - "UPHENO:0081628", - "UBERON:8450002", - "UPHENO:0087940", - "UBERON:0000990", - "UBERON:8600018", - "HP:0031072", - "UPHENO:0087516", - "GO:0065007", - "UPHENO:0081601", - "GO:0051179", - "GO:0009987", - "UPHENO:0005652", - "UBERON:0005156", - "UBERON:0003296", - "UPHENO:0085195", - "CL:0000000", - "GO:0140352", - "GO:0007154", - "HP:0003117", - "UPHENO:0059874", - "UPHENO:0042775", - "UPHENO:0050121", - "HP:0031073", - "UBERON:0000949", - "UPHENO:0087531", - "GO:0042886", - "GO:0046879", - "UBERON:0015204", - "UBERON:0000179", - "GO:0009914", - "GO:0071705", - "GO:0071702", - "GO:0023061", - "GO:0065008", - "GO:0050789", - "UPHENO:0046284", - "UBERON:0002368", - "UPHENO:0076287", - "HP:0032367", - "UPHENO:0080588", - "UPHENO:0003116", - "UBERON:0006314", - "UBERON:0000153", - "UPHENO:0084761", - "UPHENO:0014240", - "UBERON:0004732", - "UPHENO:0063569", - "UPHENO:0075220", - "UPHENO:0000541", - "UPHENO:0087339", - "UPHENO:0076812", - "GO:0030252", - "HP:0100763", - "UBERON:0017672", - "HP:0000119", - "UBERON:0004535", - "UPHENO:0002819", - "UPHENO:0081210", - "UBERON:0010758", - "UPHENO:0056059", - "UPHENO:0069110", - "UBERON:0000477", - "UPHENO:0080362", - "UBERON:0002106", - "UBERON:0002049", - "UPHENO:0080221", - "UBERON:0002075", - "UBERON:0007798", - "UBERON:0003606", - "HP:0002597", - "UBERON:0012354", - "UPHENO:0087267", - "UPHENO:0005597", - "UPHENO:0081436", - "UPHENO:0052178", - "NCBITaxon:2759", - "GO:0009790", - "UBERON:0002495", - "UPHENO:0080377", - "GO:0032502", - "UPHENO:0050034", - "UPHENO:0079872", - "UPHENO:0052778", - "UBERON:0003133", - "HP:0001511", - "GO:0040007", - "UPHENO:0014335", - "UPHENO:0083689", - "UPHENO:0086700", - "UBERON:5002544", - "CL:0000988", - "UPHENO:0086735", - "HP:0001167", - "UBERON:5001463", - "CHEBI:24431", - "UPHENO:0077889", - "HP:0009380", - "UBERON:0011215", - "UPHENO:0084448", - "UPHENO:0049587", - "UBERON:0002470", - "UPHENO:0081790", - "HP:0009777", - "HP:0000830", - "UPHENO:0080325", - "UBERON:0000007", - "UBERON:0004381", - "UBERON:0012140", - "GO:0032501", - "UBERON:0005451", - "UBERON:0001463", - "UBERON:0001555", - "UPHENO:0026506", - "UPHENO:0026183", - "UBERON:0011676", - "UPHENO:0084766", - "UPHENO:0076293", - "HP:0000240", - "HP:0001172", - "UPHENO:0080126", - "UBERON:0012141", - "OBI:0100026", - "HP:0009826", - "UPHENO:0005642", - "UBERON:0002389", - "UPHENO:0002948", - "UPHENO:0002708", - "UBERON:0006717", - "UPHENO:0006910", - "UPHENO:0085144", - "HP:0002977", - "UPHENO:0086956", - "UBERON:5002389", - "UBERON:5006048", - "UPHENO:0076724", - "UPHENO:0026028", - "HP:0001155", - "GO:0048856", - "UPHENO:0049927", - "GO:0002790", - "UBERON:0001016", - "HP:0005922", - "UBERON:0003947", - "HP:0009799", - "UPHENO:0056072", - "UBERON:0012139", - "UPHENO:0081598", - "UPHENO:0049647", - "UBERON:0005281", - "UPHENO:0081204", - "UBERON:0005358", - "UBERON:0000060", - "UBERON:0005173", - "UBERON:0005057", - "UPHENO:0001440", - "UPHENO:0076953", - "UPHENO:0065599", - "UBERON:0015212", - "UPHENO:0031839", - "HP:0001510", - "HP:0033127", - "UPHENO:0087349", - "UPHENO:0002896", - "HP:0009824", - "HP:0045060", - "UBERON:0000916", - "HP:0002818", - "UBERON:0003460", - "UPHENO:0002833", - "UBERON:0010707", - "UBERON:0004708", - "HP:0005773", - "UPHENO:0020888", - "UPHENO:0046505", - "UBERON:0010740", - "UBERON:0005177", - "UBERON:0002529", - "UBERON:0004765", - "HP:0040064", - "UBERON:0005881", - "UBERON:0010133", - "HP:0009115", - "UBERON:0002100", - "HP:0005927", - "HP:0006496", - "HP:0000089", - "UBERON:0002417", - "HP:0002817", - "UPHENO:0076735", - "UBERON:0010363", - "UPHENO:0076740", - "UBERON:0003466", - "GO:0007267", - "UPHENO:0000543", - "UPHENO:0076718", - "UBERON:0010323", - "UBERON:0002471", - "UBERON:0010741", - "UBERON:0004710", - "UBERON:0008785", - "UBERON:0001440", - "UBERON:0004923", - "UBERON:0002530", - "UBERON:0008962", - "HP:0025408", - "UBERON:0002465", - "NCBITaxon:1", - "UPHENO:0008523", - "UPHENO:0087006", - "UPHENO:0002964", - "UBERON:0002544", - "UBERON:0015001", - "HP:0002352", - "UBERON:0002428", - "UPHENO:0046538", - "HP:0002984", - "UBERON:0002386", - "UPHENO:0086635", - "HP:0040068", - "UPHENO:0087907", - "UPHENO:0075995", - "UBERON:0005172", - "HP:0000252", - "UPHENO:0076692", - "UPHENO:0075774", - "UBERON:0003937", - "UBERON:0002204", - "HP:0040072", - "UBERON:0002091", - "HP:0002012", - "GO:0010817", - "UPHENO:0076790", - "UPHENO:0087123", - "UBERON:0002108", - "UBERON:0010538", - "UPHENO:0087518", - "UBERON:0003607", - "UPHENO:0076805", - "UBERON:0010703", - "HP:0011793", - "UPHENO:0063565", - "UBERON:0011584", - "UBERON:0002390", - "UPHENO:0079876", - "UBERON:0034923", - "GO:0008150", - "UBERON:0015061", - "UBERON:0011582", - "UPHENO:0081313", - "HP:0002973", - "UBERON:0006058", - "CL:0000556", - "UBERON:0010708", - "HP:0006503", - "UPHENO:0081594", - "HP:0040195", - "HP:0009815", - "UPHENO:0081792", - "UPHENO:0087510", - "UPHENO:0086633", - "NCBITaxon:33208", - "HP:0002118", - "HP:0000077", - "UBERON:0002371", - "UPHENO:0080114", - "UBERON:0001474", - "NCBITaxon:131567", - "UPHENO:0077890", - "UPHENO:0076702", - "UPHENO:0087376", - "UBERON:0000481", - "UBERON:0012475", - "HP:0010935", - "UBERON:0002398", - "UPHENO:0009382", - "UPHENO:0084763", - "UBERON:0004089", - "UBERON:0000454", - "UBERON:0004111", - "UBERON:0003129", - "UBERON:0000468", - "UBERON:0002102", - "UPHENO:0086932", - "HP:0000234", - "UPHENO:0081786", - "HP:0006265", - "HP:0000079", - "RO:0002577", - "UBERON:0000955", - "UBERON:0004121", - "UBERON:0001890", - "UPHENO:0081547", - "HP:0000152", - "UBERON:0007811", - "UBERON:0006558", - "UBERON:0019261", - "UBERON:0013702", - "UPHENO:0080220", - "UPHENO:0077887", - "UPHENO:0002910", - "HP:0002011", - "HP:0009121", - "UBERON:0004086", - "UPHENO:0002764", - "UPHENO:0011498", - "UPHENO:0076286", - "HP:0011844", - "UBERON:0010912", - "UPHENO:0049724", - "UPHENO:0080200", - "UPHENO:0075195", - "UBERON:0002113", - "UBERON:0015021", - "HP:0002589", - "UPHENO:0080099", - "HP:0002308", - "UPHENO:0086621", - "UPHENO:0087089", - "UBERON:0004288", - "UPHENO:0002832", - "UPHENO:0051668", - "UBERON:0001009", - "UPHENO:0081451", - "HP:0000924", - "HP:0012443", - "HP:0012639", - "UBERON:0005409", - "UPHENO:0008668", - "UBERON:0005944", - "HP:0007364", - "UPHENO:0002830", - "UPHENO:0087585", - "HP:0011282", - "GO:0015833", - "HP:0001748", - "HP:0410049", - "HP:0031071", - "GO:0007275", - "UPHENO:0081466", - "UPHENO:0076703", - "UBERON:0001442", - "UPHENO:0063629", - "UPHENO:0002332", - "UPHENO:0076727", - "UBERON:0000475", - "UPHENO:0001001", - "UBERON:0001423", - "HP:0010662", - "UBERON:0002513", - "BFO:0000003", - "UPHENO:0088145", - "UPHENO:0026181", - "UBERON:0002616", - "UBERON:0002114", - "UPHENO:0076791", - "UBERON:0001893", - "UPHENO:0002751", - "UBERON:0002101", - "HP:0001743", - "UPHENO:0080393", - "UBERON:0019231", - "UBERON:0011249", - "UPHENO:0051763", - "UPHENO:0002536", - "UBERON:0001434", - "UPHENO:0022529", - "UPHENO:0002678", - "UBERON:0034925", - "UBERON:0001456", - "GO:0030072", - "UBERON:0004921", - "UPHENO:0071309", - "UPHENO:0002808", - "HP:0025461", - "UPHENO:0083951", - "UPHENO:0004523", - "UPHENO:0087355", - "UPHENO:0084928", - "UBERON:0002193", - "HP:0011842", - "HP:0007367", - "UPHENO:0002844", - "UBERON:0011216", - "PR:000050567", - "UPHENO:0076803", - "NCBITaxon:33154", - "UPHENO:0071344", - "HP:0001626", - "HP:0040075", - "UPHENO:0076799", - "HP:0002863", - "UBERON:0011299", - "UBERON:0000160", - "UBERON:0004120", - "HP:0012503", - "UPHENO:0050108", - "HP:0011314", - "UBERON:0000063", - "HP:0004377", - "UBERON:0000465", - "UBERON:0015203", - "UPHENO:0075175", - "HP:0006501", - "HP:0100547", - "UPHENO:0086589", - "UPHENO:0051804", - "HP:0025031", - "HP:0012718", - "UPHENO:0012274", - "UBERON:0010314", - "UBERON:0000062", - "UBERON:0000075", - "HP:0002242", - "UPHENO:0015280", - "UPHENO:0074228", - "HP:0040070", - "UBERON:0002090", - "UPHENO:0077872", - "BFO:0000015", - "UPHENO:0080079", - "UBERON:0003103", - "GO:0051234", - "UPHENO:0068971", - "HP:0002247", - "UPHENO:0080187", - "UPHENO:0087501", - "HP:0009601", - "HP:0002664", - "HP:0001507", - "HP:0001871", - "UPHENO:0088186", - "UPHENO:0001072", - "UBERON:0000025", - "HP:0000929", - "UPHENO:0088047", - "UBERON:0001062", - "HP:0002715", - "UPHENO:0069294", - "UPHENO:0001002", - "GO:0006810", - "UBERON:0000026", - "UPHENO:0002725", - "UBERON:0000463", - "UPHENO:0001003", - "HP:0002060", - "HP:0000118", - "UBERON:0005282", - "UPHENO:0049874", - "PATO:0000001", - "UPHENO:0075902", - "UPHENO:0076783", - "HP:0002813", - "HP:0000001", - "UBERON:0013522", - "UBERON:0007272", - "BFO:0000001", - "GO:0046903", - "UBERON:0001460", - "UBERON:0000033", - "HP:0000824", - "UPHENO:0081566", - "UBERON:0011143", - "UBERON:0013701", - "HP:0011024", - "UBERON:0019221", - "UPHENO:0087472", - "BFO:0000020", - "BFO:0000002", - "UPHENO:0005433", - "UPHENO:0020041", - "UBERON:0001017", - "UBERON:0001895", - "UBERON:0000073", - "BFO:0000004", - "UPHENO:0002905", - "UBERON:0004092", - "UPHENO:0063639", - "UPHENO:0076723", - "HP:0002246", - "UPHENO:0076289", - "UBERON:0000061", - "HP:0011283", - "UPHENO:0083952", - "HP:0009821", - "UPHENO:0081562", - "UPHENO:0012541", - "UPHENO:0081435", - "HP:0000707", - "HP:0025033", - "UPHENO:0081091", - "UBERON:0001007", - "UBERON:0006048", - "UBERON:0000064", - "UBERON:0011138", - "HP:0011100", - "NCBITaxon:6072", - "UPHENO:0004459", - "UBERON:0004375", - "UPHENO:0087427", - "HP:0002119", - "UBERON:0011137", - "UBERON:0010712", - "UPHENO:0077873", - "UPHENO:0084771", - "UPHENO:0020584", - "UBERON:0004177", - "HP:0002244", - "UPHENO:0001005", - "UBERON:0009569", - "BFO:0000040", - "UPHENO:0002880", - "UBERON:0000467", - "HP:0003026", - "UPHENO:0078743", - "UBERON:0002405", - "UPHENO:0080382", - "UPHENO:0046540", - "UBERON:0013765", - "HP:0011297", - "UPHENO:0075696", - "UBERON:0010000", - ], - "has_phenotype_closure_label": [ - "abnormal upper urinary tract", - "renal system", - "Abnormality of the kidney", - "cavitated compound organ", - "abnormal kidney", - "excretory system", - "Abnormality of the genitourinary system", - "abnormal renal system", - "Abnormality of the upper urinary tract", - "kidney", - "decreased size of the kidney", - "Renal hypoplasia", - "Abnormality of the urinary system", - "face", - "Midface retrusion", - "subdivision of head", - "anatomical entity hypoplasia in face", - "abnormal midface morphology", - "Abnormal midface morphology", - "bone marrow", - "bone marrow cell", - "myeloid cell", - "bone cell", - "abnormal bone marrow cell morphology", - "abnormal megakaryocyte morphology", - "Abnormal megakaryocyte morphology", - "tissue", - "Abnormal cellular phenotype", - "Abnormal metencephalon morphology", - "abnormally formed cerebellum", - "Abnormal hindbrain morphology", - "hindbrain", - "cerebellum", - "metencephalon", - "Abnormal cerebellum morphology", - "abnormal cerebellum morphology", - "abnormally formed anatomical entity in independent continuant", - "midface", - "segmental subdivision of hindbrain", - "abnormal metencephalon morphology", - "Abnormal cerebral subcortex morphology", - "Neurodegeneration", - "cerebral hemisphere white matter", - "white matter", - "abnormal cerebral subcortex morphology", - "white matter of telencephalon", - "central nervous system cell part cluster", - "cerebral subcortex", - "Atrophy/Degeneration affecting the central nervous system", - "anatomical entity degeneration", - "Leukoencephalopathy", - "abnormal brain white matter morphology", - "multi cell part structure", - "glandular system", - "blood", - "decreased secretion in independent continuant", - "abnormal cerebral hemisphere morphology", - "decreased qualitatively biological_process in central nervous system", - "abnormal biological_process in central nervous system", - "localization", - "cellular process", - "decreased growth hormone secretion", - "abnormal growth hormone secretion", - "hypothalamus-pituitary axis", - "kidney hypoplasia", - "regulation of biological quality", - "abnormal hindbrain morphology", - "abnormal blood chemical entity level", - "Abnormality of the anterior pituitary", - "Abnormal circulating hormone concentration", - "abnormal endocrine system", - "abnormal hypothalamus-pituitary axis", - "abnormal multicellular organism chemical entity level", - "reproductive system", - "neuroendocrine system", - "signaling", - "transport", - "chemical entity", - "Abnormal endocrine physiology", - "Abnormal response to endocrine stimulation test", - "hormone transport", - "nitrogen compound transport", - "secretion", - "organic substance transport", - "signal release", - "reproductive organ", - "abnormal chemical entity level", - "regulation of hormone levels", - "Decreased response to growth hormone stimulation test", - "abnormality of endocrine system physiology", - "abnormal secretion by cell", - "megakaryocyte", - "Abnormal cell morphology", - "Abnormal endocrine morphology", - "abnormal endocrine gland morphology", - "abnormal cellular process", - "abnormal diencephalon morphology", - "gland of diencephalon", - "abnormal kidney morphology", - "decreased secretion in pituitary gland", - "decreased biological_process in pituitary gland", - "growth hormone secretion", - "diencephalon", - "cerebral hemisphere", - "pituitary gland", - "adenohypophysis", - "abnormal biological_process in independent continuant", - "abnormality of anatomical entity physiology", - "neuroendocrine gland", - "changed biological_process rate in independent continuant", - "Abnormality of limb bone morphology", - "peptide transport", - "changed biological_process rate in brain", - "abnormal localization", - "vasculature", - "subdivision of skeletal system", - "circulatory system", - "cardiovascular system", - "abnormal spleen", - "non-connected functional system", - "abnormal biological_process", - "multi-tissue structure", - "Abnormality of the cardiovascular system", - "viscus", - "abnormal skeletal system", - "peptide secretion", - "abdomen", - "abnormal immune system", - "Abnormality of the endocrine system", - "lymphoid system", - "Abnormality of the vasculature", - "abnormal brain ventricle/choroid plexus morphology", - "abnormally increased number of spleen", - "disconnected anatomical group", - "Abnormal upper limb bone morphology", - "abnormal lymphatic part of lymphoid system", - "malformed anatomical entity", - "autopodial skeleton", - "Supernumerary spleens", - "Abnormality of the immune system", - "abnormal cardiovascular system", - "abnormal diencephalon", - "abdominal viscera", - "subdivision of trunk", - "abdomen element", - "endocrine gland", - "abnormal vasculature", - "pectoral complex", - "abnormal development of anatomical entity", - "trunk region element", - "intestine atresia", - "abnormal spleen morphology", - "changed embryo development rate", - "Abnormal cerebral white matter morphology", - "Intrauterine growth retardation", - "hemopoietic organ", - "developmental process", - "aplasia or hypoplasia of radius bone", - "main body axis", - "cellular organisms", - "abnormal adenohypophysis", - "multicellular organismal process", - "abnormal embryo development", - "Abnormality of bone marrow cell morphology", - "anatomical structure development", - "changed biological_process rate", - "decreased developmental process", - "growth", - "increased size of the anatomical entity in independent continuant", - "subdivision of skeleton", - "protein-containing material entity", - "biological_process", - "embryo development", - "delayed biological_process", - "Abnormal radial ray morphology", - "abnormal anatomical entity morphology in the manus", - "Abnormality of the face", - "Phenotypic abnormality", - "abnormal digit morphology", - "cell communication", - "central nervous system", - "absent anatomical entity", - "acropodium region", - "Finger aplasia", - "digitopodium region", - "abnormal anatomical entity morphology in the independent continuant", - "segment of manus", - "secretion by cell", - "manual digit 1", - "skeleton", - "Absent thumb", - "Abnormality of the diencephalon", - "Abnormality of skull size", - "Abnormal digit morphology", - "decreased biological_process in independent continuant", - "abnormal manual digit morphology in the manus", - "aplasia or hypoplasia of manual digit", - "autopodial extension", - "digit plus metapodial segment", - "abnormal role blood level", - "hormone secretion", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal periventricular white matter morphology", - "brain ventricle", - "Abnormal spleen morphology", - "changed developmental process rate", - "manual digitopodium region", - "Renal hypoplasia/aplasia", - "abnormal secretion in independent continuant", - "abnormal number of anatomical enitites of type anatomical entity", - "radius endochondral element", - "abnormal immune system morphology", - "Hematological neoplasm", - "Forearm undergrowth", - "Aplasia/Hypoplasia of fingers", - "regulation of biological process", - "Abnormal thumb morphology", - "reproductive structure", - "manual digit 1 or 5", - "Abnormal hand morphology", - "abnormal digit", - "absent manual digit", - "digit 1 or 5", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal face", - "aplastic anatomical entity", - "subdivision of organism along main body axis", - "Abnormality of the hand", - "Aplasia/Hypoplasia of the thumb", - "agenesis of anatomical entity", - "manual digit", - "brain white matter", - "abdominal segment element", - "absent digit", - "Anterior hypopituitarism", - "abnormal endocrine system morphology", - "trunk", - "digit 1 plus metapodial segment", - "anatomical wall", - "abnormal brain ventricle morphology", - "abnormal size of brain ventricle", - "Ventriculomegaly", - "zeugopodial skeleton", - "ventricle of nervous system", - "Morphological abnormality of the gastrointestinal tract", - "abnormally increased number of anatomical entity in the independent continuant", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal cerebral ventricle morphology", - "ventricular system of central nervous system", - "increased size of the anatomical entity", - "haemolymphatic fluid", - "ventricular system of brain", - "absent anatomical entity in the independent continuant", - "subdivision of organism along appendicular axis", - "forelimb", - "decreased biological_process", - "Abnormal appendicular skeleton morphology", - "radius bone hypoplasia", - "peptide hormone secretion", - "abnormal hematopoietic system morphology", - "cerebral hemisphere white matter degeneration", - "Aplasia/hypoplasia involving the skeleton", - "Short long bone", - "pectoral appendage", - "bodily fluid", - "cell-cell signaling", - "abnormal anatomical entity morphology in the pectoral complex", - "amide transport", - "anatomical entity hypoplasia", - "phenotype", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "continuant", - "aplastic manual digit 1", - "abnormal limb long bone morphology", - "abnormal neuroendocrine gland morphology", - "Abnormal growth hormone level", - "Abnormal nervous system morphology", - "forelimb zeugopod", - "midface hypoplasia", - "multi-limb segment region", - "immune organ", - "endochondral element", - "abnormal growth", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "abnormal cell morphology", - "limb bone", - "decreased biological_process in multicellular organism", - "forelimb endochondral element", - "abnormal hormone independent continuant level", - "pectoral appendage skeleton", - "Abnormality of the spleen", - "abnormally increased number of anatomical entity in the abdomen", - "Abnormal morphology of the radius", - "bone of free limb or fin", - "decreased size of the anatomical entity in the independent continuant", - "digit", - "Abnormality of the skeletal system", - "abdominal segment of trunk", - "abnormal limb", - "abnormal arm", - "brain ventricle/choroid plexus", - "abnormal forelimb zeugopod bone", - "abnormal forelimb morphology", - "system", - "export from cell", - "abnormal biological_process in nervous system", - "abnormal limb bone morphology", - "abnormal forelimb zeugopod morphology", - "Aplasia/hypoplasia of the extremities", - "Polysplenia", - "decreased length of forelimb zeugopod bone", - "absent anatomical entity in the limb", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "Abnormality of the upper limb", - "entity", - "abnormal long bone morphology", - "Abnormal forearm bone morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "skeleton of pectoral complex", - "Abnormality of the nervous system", - "appendicular skeletal system", - "Eukaryota", - "forebrain", - "paired limb/fin segment", - "Aplasia/hypoplasia involving forearm bones", - "tube", - "abnormal digestive system morphology", - "decreased length of anatomical entity", - "decreased qualitatively biological_process in independent continuant", - "forelimb zeugopod bone hypoplasia", - "Eumetazoa", - "segment of autopod", - "abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the brain", - "zeugopod", - "spleen", - "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "Growth delay", - "forelimb skeleton", - "abnormal hormone blood level", - "abnormal head", - "regional part of nervous system", - "digit 1", - "forelimb bone", - "skeletal element", - "Abnormality of the head", - "endochondral bone", - "decreased length of anatomical entity in independent continuant", - "abnormal manus morphology", - "cell", - "phenotype by ontology source", - "forelimb long bone", - "Abnormality of the hypothalamus-pituitary axis", - "quality", - "forelimb zeugopod bone", - "vascular system", - "radius bone", - "arm", - "limb", - "lateral structure", - "immune system", - "decreased qualitatively biological_process", - "manual digit plus metapodial segment", - "Microcephaly", - "abnormal craniocervical region", - "limb skeleton subdivision", - "abnormal intestine morphology", - "Short forearm", - "bone of appendage girdle complex", - "anatomical entity hypoplasia in independent continuant", - "lymphatic part of lymphoid system", - "Neoplasm by anatomical site", - "Abnormality of limb bone", - "Aplasia/hypoplasia involving bones of the extremities", - "alimentary part of gastrointestinal system atresia", - "anatomical entity degeneration in independent continuant", - "axial skeletal system", - "Limb undergrowth", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "long bone", - "abnormal gland morphology", - "body proper", - "multicellular organism", - "increased size of the brain ventricle", - "Abnormality of brain morphology", - "abnormal anatomical entity length", - "abnormal size of skull", - "Abnormality of the musculoskeletal system", - "manus", - "abnormal size of kidney", - "organ component layer", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal forebrain morphology", - "abnormal bone marrow morphology", - "organism subdivision", - "abnormal genitourinary system", - "abnormal axial skeleton plus cranial skeleton morphology", - "aplasia or hypoplasia of anatomical entity", - "organ system subdivision", - "process", - "brain", - "Megakaryocyte dysplasia", - "abnormal cerebral hemisphere white matter morphology", - "bone element hypoplasia in independent continuant", - "abnormal limb morphology", - "establishment of localization", - "bone of pectoral complex", - "delayed growth", - "organism", - "Gastrointestinal atresia", - "Metazoa", - "absent anatomical entity in the multicellular organism", - "anterior region of body", - "manual digit 1 plus metapodial segment", - "telencephalon", - "decreased qualitatively developmental process", - "limb long bone", - "appendage", - "abnormal hemopoietic organ morphology", - "white matter of forebrain", - "Hypoplasia of the radius", - "subdivision of tube", - "Opisthokonta", - "Aplasia/hypoplasia involving bones of the upper limbs", - "multicellular anatomical structure", - "endocrine system", - "skull", - "decreased size of the radius bone", - "occurrent", - "abnormal skeletal system morphology", - "anatomical collection", - "abnormal skull morphology", - "organ", - "organism substance", - "Aplasia/Hypoplasia involving the central nervous system", - "Abnormal pituitary gland morphology", - "axial skeleton plus cranial skeleton", - "limb endochondral element", - "anatomical entity", - "Hypopituitarism", - "Abnormal skeletal morphology", - "compound organ", - "autopod region", - "decreased size of the anatomical entity", - "musculoskeletal system", - "appendicular skeleton", - "Abnormal axial skeleton morphology", - "decreased biological_process in brain", - "abnormal nervous system", - "abnormal anatomical entity morphology", - "abnormal head morphology", - "head", - "Abnormal skull morphology", - "anatomical cluster", - "upper urinary tract", - "skeletal system", - "ectoderm-derived structure", - "abnormal craniocervical region morphology", - "abnormal autopod region morphology", - "digestive system element", - "abnormal size of anatomical entity", - "paired limb/fin skeleton", - "postcranial axial skeletal system", - "segmental subdivision of nervous system", - "Abnormality of the lymphatic system", - "absent anatomical entity in the forelimb", - "All", - "abnormal alimentary part of gastrointestinal system", - "abnormal limb bone", - "aplasia or hypoplasia of telencephalon", - "abnormal brain morphology", - "abnormal cell", - "bone element", - "abnormal nervous system morphology", - "Abnormality of the digestive system", - "organ part", - "Abnormality of head or neck", - "hematopoietic cell", - "Decreased head circumference", - "abnormal small intestine morphology", - "abnormal hematopoietic system", - "cranial skeletal system", - "Abnormality of digestive system morphology", - "abnormal duodenum morphology", - "abnormal small intestine", - "abnormal transport", - "mesoderm-derived structure", - "abnormal digestive system", - "subdivision of digestive tract", - "digestive tract", - "regional part of brain", - "arm bone", - "biological regulation", - "Myelodysplasia", - "Chiari malformation", - "anatomical structure", - "Abnormality of blood and blood-forming tissues", - "abnormal pituitary gland morphology", - "multicellular organism development", - "abnormal forebrain morphology", - "hematopoietic system", - "Upper limb undergrowth", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "anatomical conduit", - "decreased embryo development", - "Abnormal duodenum morphology", - "abnormal bone of pectoral complex morphology", - "Abnormal renal morphology", - "Abnormality of limbs", - "abnormal alimentary part of gastrointestinal system morphology", - "root", - "abnormally formed anatomical entity", - "abnormal central nervous system morphology", - "abnormal independent continuant chemical entity level", - "anatomical system", - "Abnormality of the abdominal organs", - "abnormal role independent continuant level", - "specifically dependent continuant", - "abnormal closing of the anatomical entity", - "material entity", - "Abnormal forearm morphology", - "material anatomical entity", - "craniocervical region", - "abnormal bone marrow cell", - "Neoplasm", - "Abnormality of the gastrointestinal tract", - "aplasia or hypoplasia of skeleton", - "independent continuant", - "abnormally increased number of anatomical entity", - "limb segment", - "appendage girdle complex", - "duodenum atresia", - "structure with developmental contribution from neural crest", - "Abnormal long bone morphology", - "small intestine", - "abnormal anatomical entity", - "paired limb/fin", - "Morphological central nervous system abnormality", - "alimentary part of gastrointestinal system", - "Intestinal atresia", - "abnormal developmental process", - "Duodenal atresia", - "genitourinary system", - "Abnormal small intestine morphology", - "abnormal manus", - "upper limb segment", - "duodenum", - "abnormal manual digit morphology in the independent continuant", - "anatomical entity atresia", - "digestive system", - "organ subunit", - "Abnormal cerebral morphology", - "intestine", - "abnormal role bodily fluid level", - "Abnormal intestine morphology", - "abnormal renal system morphology", - "Growth abnormality", - "skeleton of limb", - "nervous system", - "hemolymphoid system", - "decreased length of long bone", - "Cerebellar malformation", - "postcranial axial skeleton", - "gland", - "abnormal postcranial axial skeleton morphology", - "abnormal telencephalon morphology", - "reproductive gland", - "abnormal phenotype by ontology source", - ], - "has_phenotype_count": 16, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0010953", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group E", - "full_name": None, - "deprecated": None, - "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.", - "xref": ["DOID:0111084", "GARD:15324", "NCIT:C125709", "OMIM:600901", "UMLS:C3160739"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": [ - "FANCE", - "FANCE Fanconi anaemia", - "FANCE Fanconi anemia", - "Fanconi Anemia, complementation group type E", - "Fanconi anaemia caused by mutation in FANCE", - "Fanconi anaemia complementation group type E", - "Fanconi anemia caused by mutation in FANCE", - "Fanconi anemia complementation group E", - "Fanconi anemia complementation group type E", - "Fanconi anemia, complementation group E", - "face", - ], - "uri": None, - "iri": None, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0001875", - "HP:0001249", - "HP:0000086", - "HP:0000252", - "HP:0000953", - "HP:0000081", - "HP:0003214", - "HP:0000815", - "HP:0009777", - "HP:0000104", - "HP:0001017", - "HP:0001876", - "HP:0000028", - "HP:0003974", - "HP:0001873", - "HP:0009778", - "HP:0001896", - "HP:0000568", - "HP:0001518", - "HP:0001263", - "HP:0003221", - "HP:0009943", - "HP:0000978", - "HP:0001627", - "HP:0000957", + "UBERON:0005173", + "HP:0002624", + "UBERON:0002530", + "UPHENO:0002844", + "UPHENO:0075995", + "UBERON:0004092", + "UBERON:0000466", + "UBERON:0008785", + "UBERON:0000015", + "UPHENO:0052675", + "HP:0000316", + "UPHENO:0042834", + "UPHENO:0072195", + "HP:0002814", + "UBERON:0006800", + "UPHENO:0049367", + "UPHENO:0052231", + "UPHENO:0081594", + "NCBITaxon:1", + "UPHENO:0021474", + "UPHENO:0087597", + "UBERON:0002114", + "UPHENO:0076748", + "UBERON:0012152", + "UPHENO:0078375", + "UBERON:0010696", + "NBO:0000444", + "UPHENO:0081344", + "UBERON:0000063", + "HP:0008056", + "UBERON:0007273", + "HP:0002270", + "UBERON:0015022", + "UPHENO:0086866", + "UBERON:0001445", + "HP:0011297", + "UBERON:0004248", + "GO:0043473", + "UBERON:0012142", + "UBERON:0010758", + "UBERON:0001890", + "UPHENO:0081091", + "HP:0010674", + "HP:0001217", + "UPHENO:0078125", + "UPHENO:0087369", + "UPHENO:0082444", + "HP:0001639", + "UPHENO:0002896", + "UPHENO:0076806", + "HP:0040072", + "UBERON:0004053", + "UBERON:0001441", + "UBERON:0015023", + "UPHENO:0081575", + "UBERON:0001711", + "UBERON:0003221", + "UPHENO:0002964", + "UPHENO:0088140", + "UBERON:0006314", + "UPHENO:0041821", + "HP:0100760", + "UBERON:0010709", + "UBERON:0005440", + "HP:0001882", + "UPHENO:0002905", + "UPHENO:0084654", + "UBERON:0001769", + "UBERON:5002544", + "UBERON:0000154", + "HP:0031653", + "UBERON:0004122", + "HP:0009826", + "UPHENO:0033616", + "HP:0001384", + "CL:0000763", + "UPHENO:0049586", + "UBERON:0010742", + "HP:0004349", + "HP:0040068", + "UBERON:0002470", + "UBERON:0012139", + "HP:0001824", + "UBERON:0004709", + "UPHENO:0033603", + "UBERON:0001466", + "UBERON:0000978", + "UPHENO:0087123", + "HP:0000077", + "UBERON:0002199", + "UBERON:0002137", + "UBERON:0011143", + "UBERON:0007842", + "UBERON:0002113", + "HP:0001199", + "UPHENO:0000996", + "UBERON:0005881", + "UPHENO:0076779", + "UBERON:0001846", + "UBERON:0002217", + "UBERON:0007375", + "UBERON:0034768", + "UPHENO:0081570", + "UPHENO:0076786", + "UBERON:0001703", + "UPHENO:0078215", + "UBERON:0002553", + "HP:0031816", + "UPHENO:0075843", + "HP:0000172", + "UBERON:0012240", + "UBERON:0001734", + "UBERON:0005944", + "UBERON:0000079", + "UBERON:0001716", + "UBERON:0004089", + "UPHENO:0088088", + "HP:0008678", + "HP:0012372", + "UBERON:0005179", + "UPHENO:0080221", + "HP:0001034", + "HP:0012210", + "UPHENO:0059829", + "UPHENO:0074575", + "HP:0000309", + "UPHENO:0082682", + "UBERON:0001359", + "UPHENO:0074584", + "UBERON:0000167", + "UBERON:0001442", + "UPHENO:0078736", + "HP:0031105", + "UBERON:0002416", + "HP:0008053", + "UPHENO:0022529", + "UPHENO:0054957", + "UPHENO:0084511", + "UPHENO:0066927", + "UBERON:0010000", + "UBERON:0010230", + "HP:0011121", + "UPHENO:0080601", + "UPHENO:0086172", + "UPHENO:0074589", + "CL:0000225", + "UPHENO:0054970", + "UPHENO:0049940", + "UPHENO:0084761", + "UBERON:0002384", + "UBERON:0012141", + "CL:0000151", + "HP:0001510", + "HP:0001167", + "UPHENO:0085302", + "UPHENO:0080114", + "UPHENO:0084766", + "UPHENO:0080201", + "UBERON:0003101", + "HP:0001155", + "HP:0045060", + "HP:0008373", + "HP:0005927", + "UPHENO:0085371", + "UPHENO:0076723", + "UPHENO:0084653", + "UBERON:0005451", + "HP:0005922", + "UPHENO:0082671", + "UPHENO:0078179", + "HP:0011849", + "HP:0010469", + "UBERON:0008202", + "UPHENO:0082834", + "HP:0004209", + "UPHENO:0087203", + "UPHENO:0082835", + "UBERON:0002412", + "GO:0001503", + "HP:0011446", + "HP:0030084", + "HP:0000377", + "HP:0004097", + "UBERON:0012357", + "UPHENO:0084842", + "HP:0009824", + "UPHENO:0080369", + "UPHENO:0084829", + "HP:0000864", + "UPHENO:0086150", + "UPHENO:0076736", + "HP:0009179", + "UBERON:5003625", + "UBERON:0012180", + "UPHENO:0068971", + "UPHENO:0081790", + "HP:0200007", + "HP:0009821", + "UPHENO:0012274", + "UPHENO:0012541", + "UPHENO:0053580", + "HP:0040019", + "UPHENO:0069293", + "UBERON:0010425", + "UBERON:0007823", + "UPHENO:0001001", + "UPHENO:0087892", + "UPHENO:0060026", + "HP:0001367", + "HP:0000504", + "UPHENO:0002813", + "UPHENO:0087980", + "UBERON:0001457", + "UBERON:0008907", + "UPHENO:0079871", + "NBO:0000313", + "HP:0002827", + "UBERON:0000982", + "UBERON:0005913", + "UBERON:0001271", + "UBERON:0003828", + "UPHENO:0075945", + "UBERON:0003463", + "UPHENO:0086088", "HP:0001903", - "HP:0001909", - "HP:0004322", - "HP:0000486", - "HP:0000365", - "HP:0003213", - "HP:0000085", + "UPHENO:0076767", + "UBERON:0001464", + "UBERON:0008114", + "UBERON:0007828", + "UBERON:0003840", + "UPHENO:0087974", + "UBERON:0004770", + "HP:0002644", + "UBERON:5002389", + "UPHENO:0087558", + "HP:0000271", + "UBERON:0005893", + "UBERON:0001712", + "UBERON:0001950", + "UBERON:0003826", + "UBERON:0016526", + "UPHENO:0010795", + "UBERON:0001805", + "HP:0002251", + "UBERON:0004121", + "HP:0000525", + "UPHENO:0088183", + "UPHENO:0020258", + "UPHENO:0087121", + "UBERON:0002410", ], - "has_phenotype_label": [ - "Neutropenia", - "Intellectual disability", - "Ectopic kidney", - "Microcephaly", - "Hyperpigmentation of the skin", - "Duplicated collecting system", - "Prolonged G2 phase of cell cycle", - "Hypergonadotropic hypogonadism", - "Absent thumb", - "Renal agenesis", - "Anemic pallor", - "Pancytopenia", - "Cryptorchidism", - "Absent radius", + "has_phenotype_closure_label": [ + "decreased biological_process in multicellular organism", + "decreased qualitatively pigmentation in independent continuant", + "Hypopigmentation of the skin", + "decreased qualitatively biological_process in independent continuant", + "decreased biological_process in skin of body", + "decreased biological_process in independent continuant", "Thrombocytopenia", - "Short thumb", - "Reticulocytopenia", - "Microphthalmia", - "Small for gestational age", + "Abnormal platelet count", + "abnormally decreased number of platelet", + "abnormally decreased number of myeloid cell", + "abnormal blood cell", + "abnormal platelet", + "anucleate cell", + "secretory cell", + "obsolete cell", + "Abnormality of chromosome stability", + "Abnormal cellular physiology", + "decreased size of the multicellular organism", + "Abnormality of body height", + "serotonin secreting cell", + "abnormal size of multicellular organism", + "erythrocyte differentiation", + "myeloid cell differentiation", + "hemopoiesis", + "cellular developmental process", + "abnormal erythroid lineage cell morphology", + "erythroid lineage cell", + "Sideroblastic anemia", + "Abnormal myeloid cell morphology", + "immune system process", + "cellular process", + "homeostatic process", + "abnormal myeloid cell morphology", + "erythrocyte", + "myeloid cell", + "blood cell", + "abnormal erythrocyte morphology", + "Pyridoxine-responsive sideroblastic anemia", + "erythrocyte homeostasis", + "homeostasis of number of cells", + "oxygen accumulating cell", + "Anemia of inadequate production", + "radius bone", + "Abnormal morphology of the radius", + "aplasia or hypoplasia of radius bone", + "abnormal radius bone morphology", + "Neurodevelopmental delay", + "abnormal size of palpebral fissure", + "decreased length of palpebral fissure", + "Abnormal size of the palpebral fissures", + "Abnormality of immune system physiology", + "abnormality of immune system physiology", + "abnormally localised testis", + "abnormally localised anatomical entity in independent continuant", + "Cryptorchidism", + "ureter", + "Abnormal ureter morphology", + "Abnormality of the ureter", + "abnormal ureter morphology", + "Abnormal renal physiology", + "Hypopigmented skin patches", + "Abnormality of the urinary system physiology", + "abnormally decreased functionality of the gonad", + "Cleft palate", + "Craniofacial cleft", + "increased height of the anatomical entity", + "increased height of anatomical entity in independent continuant", + "High palate", + "Increased head circumference", + "increased size of the head", + "increased length of the epicanthal fold", + "upper eyelid", + "zone of skin", + "Epicanthus", + "skin of head", + "head or neck skin", + "abnormal skin of face morphology", + "skin of face", + "abnormal asymmetry of anatomical entity", + "abnormal shape of forehead", + "sloped anatomical entity", + "abnormal facial skeleton morphology", + "Hypoplastic facial bones", + "facial skeleton", + "facial bone", + "mandible", + "anatomical entity hypoplasia in face", + "bone of lower jaw", + "mandible hypoplasia", + "abnormal mandible morphology", + "Abnormal mandible morphology", + "lower jaw region", + "facial bone hypoplasia", + "decreased size of the mandible", + "bone element hypoplasia in face", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "decreased qualitatively sensory perception of mechanical stimulus", + "sloped forehead", + "sensory perception of mechanical stimulus", + "decreased sensory perception of sound", + "abnormal sensory perception of sound", + "Hearing abnormality", + "sensory perception of sound", + "decreased qualitatively sensory perception of sound", + "Abnormal conjugate eye movement", + "Strabismus", + "sensory perception of light stimulus", + "abnormal sensory perception of light stimulus", + "abnormal sensory perception", + "decreased qualitatively visual perception", + "visual perception", + "abnormally protruding eyeball of camera-type eye", + "cell development", + "abnormal size of eyeball of camera-type eye", + "Abnormality of globe size", + "Abnormality of eye movement", + "cranial nerve related reflex", + "Abnormal vestibulo-ocular reflex", + "Abnormal vestibular function", + "abnormality of ear physiology", + "abnormal eye movement", + "abnormal physiologic nystagmus", + "eye movement", + "abnormal vestibulo-ocular reflex", + "shape uterus", + "abnormal uterus", + "female organism", + "internal female genitalia", + "abnormal internal female genitalia morphology", + "Abnormality of the female genitalia", + "Aplasia/Hypoplasia of facial bones", + "bicornuate uterus", + "abnormal female reproductive system", + "oviduct", + "bicornuate anatomical entity", + "uterus", + "Abnormality of the uterus", + "abnormal anatomical entity morphology in the skeleton of manus", + "Abnormality of thumb phalanx", + "manual digitopodium bone", + "manual digit 1 phalanx", + "digit 1", + "Abnormal finger phalanx morphology", + "manus bone", + "excretory tube", + "manual digit 1 phalanx endochondral element", + "abnormal incomplete closing of the secondary palate", + "phalanx of manus", + "manual digit 1 digitopodial skeleton", + "abnormal visual perception", + "abnormal phalanx of manus morphology", + "abnormal manual digit 1 morphology", + "Triphalangeal thumb", + "manual digit 1", + "abnormal female reproductive system morphology", + "digit 1 digitopodial skeleton", + "skeleton of manual acropodium", + "skeleton of manual digitopodium", + "Bicornuate uterus", + "abnormal behavior", + "body part movement", + "neuromuscular process", + "voluntary musculoskeletal movement", + "kinesthetic behavior", + "increased qualitatively response to stimulus", + "abnormal voluntary musculoskeletal movement", + "Hyperreflexia", + "reflex", + "Abnormality of movement", + "Recurrent urinary tract infections", + "involuntary movement behavior", + "multicellular organismal movement", + "abnormal response to external stimulus", + "decreased embryo development", + "abnormal embryo development", + "Abnormal umbilicus morphology", + "Hernia", + "Hernia of the abdominal wall", + "Abnormality of connective tissue", + "abnormal umbilicus morphology", + "abnormal incomplete closing of the abdominal wall", + "Abnormality of the abdominal wall", + "umbilicus", + "connective tissue", + "herniated anatomical entity", + "herniated abdominal wall", + "response to external stimulus", + "Abnormality of the amniotic fluid", + "abnormal amniotic fluid", + "Abnormality of prenatal development or birth", + "Renal insufficiency", + "late embryo", + "Oligohydramnios", + "amniotic fluid", + "interatrial septum", + "abnormal cardiac atrium morphology in the independent continuant", + "Abnormal atrial septum morphology", + "abnormal cardiac atrium morphology", + "abnormal interatrial septum morphology", + "Abnormal ventricular septum morphology", + "metabolic process", + "Abnormal cardiac septum morphology", + "increased size of the heart right ventricle", + "interventricular septum", + "abnormal hematopoietic cell morphology", + "Abnormal connection of the cardiac segments", + "abnormally increased volume of anatomical entity", + "Ventricular hypertrophy", + "abnormal pulmonary valve morphology", "Global developmental delay", - "Chromosomal breakage induced by crosslinking agents", - "Complete duplication of thumb phalanx", - "Bruising susceptibility", - "Abnormal heart morphology", - "Cafe-au-lait spot", - "Anemia", - "Leukemia", - "Short stature", - "Strabismus", - "Hearing impairment", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Horseshoe kidney", - ], - "has_phenotype_closure": [ - "UPHENO:0041075", - "UPHENO:0041465", - "UPHENO:0082129", - "UPHENO:0041629", - "HP:0003254", - "GO:0051716", - "UPHENO:0049671", - "GO:0006974", - "HP:0000364", - "UPHENO:0052970", - "UBERON:0002105", - "UPHENO:0005518", - "UPHENO:0002240", - "UBERON:0000015", - "UPHENO:0080300", - "UPHENO:0079826", - "UPHENO:0049586", - "HP:0000496", - "BFO:0000141", - "NBO:0000001", - "NBO:0000338", - "UPHENO:0079828", - "UPHENO:0080351", - "UPHENO:0075159", - "UPHENO:0080352", - "HP:0002664", - "HP:0011793", - "HP:0004377", - "HP:0001510", - "HP:0011355", - "HP:0007400", - "HP:0012733", - "HP:0000957", - "UBERON:0005178", - "UBERON:0015410", - "UPHENO:0076776", - "UBERON:0005181", - "UPHENO:0076810", - "GO:0003013", - "UBERON:0000477", - "UPHENO:0080362", - "UBERON:0002049", - "GO:0008015", - "UPHENO:0051097", - "HP:0001933", - "HP:0030680", - "HP:0011029", - "UPHENO:0002678", - "UPHENO:0021800", - "HP:0001034", - "HP:0009997", - "HP:0009942", - "UBERON:0012150", - "UBERON:0012358", - "UBERON:0015024", - "UBERON:5101463", - "UPHENO:0020041", - "UBERON:0004249", - "UBERON:0003620", - "UBERON:5102389", - "UBERON:0010688", - "UBERON:0012151", - "HP:0004275", - "GO:0010558", - "GO:0019222", - "GO:0006139", - "GO:0007605", - "GO:0046483", - "GO:0006725", - "HP:0040012", - "UPHENO:0050845", - "UPHENO:0049990", - "UPHENO:0049873", - "GO:0031049", - "UBERON:0010543", - "GO:0065007", - "UPHENO:0049748", - "UPHENO:0049700", - "GO:0071840", - "UPHENO:0050113", - "UBERON:0010222", - "GO:0010556", - "GO:0016043", - "GO:0009890", - "GO:0010605", - "GO:0060255", - "GO:0090304", - "GO:0006996", - "GO:0043933", - "GO:0050789", - "GO:0044238", - "GO:0006807", - "GO:0071704", - "HP:0004322", - "HP:0001627", - "GO:0010629", - "HP:0001263", - "GO:0034641", - "HP:0012758", - "UPHENO:0082794", - "UBERON:0015228", - "HP:0001518", - "UPHENO:0010763", - "GO:0040007", - "HP:0004325", - "UPHENO:0082761", - "HP:0005918", - "UPHENO:0054299", - "UBERON:0001444", - "UBERON:0000019", - "HP:0008056", - "UPHENO:0087924", - "GO:0050954", - "UBERON:0004456", - "UPHENO:0080209", - "HP:0000568", - "UBERON:0001032", - "UPHENO:0075219", - "UPHENO:0080585", - "UPHENO:0075997", - "HP:0001626", - "UBERON:0004088", - "UPHENO:0049622", - "UPHENO:0088148", - "UPHENO:0085263", - "HP:0004323", - "HP:0009381", - "HP:0011927", - "UPHENO:0012541", - "UPHENO:0046624", - "UPHENO:0046411", - "UPHENO:0088186", - "HP:0003953", - "UBERON:0003460", - "UBERON:0001423", - "UPHENO:0025945", - "UPHENO:0080187", - "UPHENO:0081511", - "UBERON:0008962", - "HP:0002597", - "UBERON:0003606", - "UPHENO:0076941", - "UBERON:0015001", - "UBERON:0002386", - "UPHENO:0002751", - "UPHENO:0026128", - "HP:0003974", - "HP:0040072", - "UBERON:0010703", - "UBERON:0011584", - "UPHENO:0009399", - "HP:0009823", - "HP:0002973", - "HP:0006503", - "HP:0006501", - "UBERON:0005897", - "UPHENO:0085873", - "UPHENO:0080382", - "HP:0008669", - "GO:0007283", - "GO:0007276", - "UPHENO:0020950", - "UPHENO:0050108", - "UPHENO:0041821", - "UPHENO:0002595", - "CL:0000019", - "UPHENO:0049985", - "UPHENO:0012274", - "UPHENO:0087547", - "UPHENO:0021474", - "HP:0000811", - "UBERON:0003466", - "UPHENO:0078452", - "UBERON:0004053", - "UPHENO:0049970", - "UBERON:0000473", - "CL:0000039", - "CL:0000413", - "UPHENO:0086023", - "HP:0012243", - "UPHENO:0049964", - "GO:0031326", - "CL:0000558", - "HP:0000035", - "UPHENO:0086198", - "UPHENO:0085875", - "CL:0000015", - "UBERON:0003101", - "GO:0032502", - "GO:0022414", - "GO:0000003", - "UPHENO:0052231", - "GO:0032504", - "UPHENO:0079872", - "UPHENO:0052778", - "HP:0009778", - "HP:0000812", - "HP:0004312", - "UPHENO:0050101", - "UPHENO:0005016", - "UPHENO:0078729", - "UPHENO:0087369", - "UPHENO:0021561", - "HP:0000598", - "CL:0000586", - "GO:0006281", - "GO:0048232", - "GO:0003006", - "HP:0009602", - "GO:0048609", - "HP:0000025", - "UPHENO:0085194", - "UPHENO:0002371", - "GO:0007600", - "HP:0012874", - "UBERON:0003135", - "UBERON:0000079", - "UPHENO:0002597", - "GO:0010468", - "HP:0010461", - "UPHENO:0087973", - "UPHENO:0085070", + "reflexive behavior", + "Right ventricular hypertrophy", + "cardiac septum", + "Abnormal pulmonary valve physiology", + "abnormality of cardiovascular system physiology", + "skin of eyelid", + "Aplasia/Hypoplasia of the mandible", + "abnormal size of heart right ventricle", + "abnormal cardiac septum morphology", + "hypertrophic cardiac ventricle", + "hypertrophic heart right ventricle", + "Abnormal myocardium morphology", + "layer of muscle tissue", + "abnormal myocardium morphology", + "heart layer", + "abnormal abdominal wall", + "embryonic cardiovascular system", + "heart vasculature", + "response to stimulus", + "ductus arteriosus", + "abnormal coronary vessel morphology", + "abnormal number of anatomical enitites of type myeloid cell", + "thoracic segment blood vessel", + "coronary vessel", + "Patent ductus arteriosus", + "decreased pigmentation in multicellular organism", + "Congenital malformation of the great arteries", + "aplasia or hypoplasia of mandible", + "trunk blood vessel", + "abnormal incomplete closing of the ductus arteriosus", + "vasculature of organ", + "abnormal female reproductive organ morphology", + "abnormally decreased functionality of the anatomical entity", + "vasculature of trunk", + "heart blood vessel", + "bone of jaw", + "aortic system", + "aorta", + "great vessel of heart", + "Abnormal aortic morphology", + "flattened anatomical entity", + "longitudinal arch of pes", + "flattened anatomical entity in independent continuant", + "shape longitudinal arch of pes", + "Pes planus", + "flat anatomical entity", + "abnormally fused anatomical entity and pedal digit", + "Toe syndactyly", + "manual digit 1 plus metapodial segment", + "abnormal cerebral hemisphere morphology", + "neurocranium bone", + "vault of skull", + "female reproductive system", + "dermal skeleton", + "primary subdivision of skull", + "primary subdivision of cranial skeletal system", + "gray matter", + "dermal bone", + "aplasia or hypoplasia of skull", + "frontal lobe", + "pallium", + "neurocranium", + "cranial bone", + "bone of craniocervical region", + "intramembranous bone", + "membrane bone", + "Hearing impairment", + "abnormal neurocranium morphology", + "abnormal head bone morphology", + "abnormal shape of frontal cortex", + "abnormality of internal ear physiology", + "abnormal tetrapod frontal bone morphology", + "abnormal vault of skull", + "Puberty and gonadal disorders", + "central nervous system cell part cluster", + "lobe of cerebral hemisphere", + "cerebral hemisphere", + "forehead", + "abnormal great vessel of heart morphology", + "frontal cortex", + "abnormal response to stimulus", + "embryo development ending in birth or egg hatching", + "Abnormal form of the vertebral bodies", + "outflow part of left ventricle", + "vertebral column", + "vertebra", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "Abnormal heart valve morphology", + "abnormal neural tube morphology", + "anatomical structure formation involved in morphogenesis", + "abnormal aortic valve morphology", + "tube formation", + "neural tube", + "presumptive structure", + "Abnormality of the inner ear", + "abnormal vertebral column morphology", + "face", + "aplasia or hypoplasia of manual digit", + "Abnormality of the vasculature", + "non-functional anatomical entity", + "Abnormal vertebral morphology", + "Vertebral arch anomaly", + "epithelium development", + "abnormal head", + "arterial system", + "Decreased bone element mass density", + "abnormal systemic arterial system morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal common carotid artery plus branches morphology", + "jaw region", + "artery", + "abnormal anatomical entity mass density", + "Spinal dysraphism", + "decreased qualitatively pigmentation", + "decreased multicellular organism mass", + "innominate bone", + "gray matter of forebrain", + "heart plus pericardium", + "Pulmonic stenosis", + "Abnormal peripheral nervous system morphology", + "Atypical behavior", + "Abnormal upper limb bone morphology", + "chemosensory system", + "abnormally decreased number of anatomical entity", + "Abnormality of the orbital region", + "roof of mouth", + "paralysed cranial nerve", + "Abnormal cranial nerve physiology", + "male germ cell", + "Aplasia/Hypoplasia of the uvula", + "Ocular anterior segment dysgenesis", + "decreased height of the multicellular organism", + "abnormal anatomical entity morphology in the pelvic complex", + "abnormal neocortex morphology", + "decreased biological_process", + "Eukaryota", + "Eumetazoa", + "Aplasia/Hypoplasia affecting the uvea", + "anterior uvea", + "vestibulo-auditory system", + "Abnormal right ventricle morphology", + "Clinodactyly", + "cranial neuron projection bundle", + "Abdominal wall defect", + "Almond-shaped palpebral fissure", + "Clubbing", + "head bone", + "shape digit", + "multi-tissue structure", + "bodily fluid", + "abnormal peripheral nervous system morphology", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "appendage girdle complex", + "subdivision of head", + "Abnormal calvaria morphology", + "abnormal skeletal system", + "Abnormal morphology of ulna", + "Aplasia/Hypoplasia of the iris", + "mouth", + "spinal cord", + "appendicular skeleton", + "limb skeleton subdivision", + "Abnormal cell morphology", + "Abnormal palate morphology", + "forelimb long bone", + "abnormal size of skull", + "limb segment", + "abnormally formed anatomical entity", + "absent sperm", + "skeletal system", + "curved anatomical entity in independent continuant", + "hindlimb skeleton", + "endochondral bone", + "subdivision of skeleton", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "Abnormality of the skeletal system", + "Overriding aorta", + "trachea", + "Deviation of finger", + "Abnormality of limbs", + "Abnormal platelet morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "ulna endochondral element", + "abnormal shape of cornea", + "abnormal forebrain morphology", + "abnormal limb long bone morphology", + "eukaryotic cell", + "abnormal zone of skin morphology", + "pedal digitopodium bone", + "neural tube formation", + "anatomical conduit", + "abnormally formed anterior chamber of eyeball", + "Anal atresia", + "postcranial axial skeletal system", + "Clubbing of toes", + "Abnormal uvea morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal forelimb zeugopod morphology", + "zeugopod", + "skeletal element", + "paired limb/fin", + "abnormal semi-lunar valve morphology", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "bone element", + "pectoral appendage", + "deviation of manual digit 5 towards the middle", + "abnormal digestive system morphology", + "septum", + "Abnormality of limb bone morphology", + "Abnormal forearm bone morphology", + "root", + "Abnormal forebrain morphology", + "developing anatomical structure", + "skeleton of limb", + "forelimb zeugopod skeleton", + "prepuce", + "subdivision of oviduct", + "limb bone", + "pectoral appendage skeleton", + "Abnormal blood vessel morphology", + "cardiovascular system", + "blood vasculature", + "tube development", + "acropodium region", + "blood vessel", + "germ cell", + "outflow tract", + "Umbilical hernia", + "Arteriovenous malformation", + "abnormal connective tissue", + "Abnormal eye morphology", + "Abnormal long bone morphology", + "absent sperm in the semen", + "vasculature", + "embryonic morphogenesis", + "abnormal liver", + "decreased pigmentation in independent continuant", + "tissue development", + "venous blood vessel", + "abnormal vasculature", + "abnormal genitourinary system", + "abnormal musculoskeletal movement", + "changed developmental process rate", + "abnormal cardiovascular system", + "Abnormal reproductive system morphology", + "abnormal blood vessel morphology", + "abnormal parasympathetic nervous system morphology", + "abnormal embryo morphology", + "Abnormal venous morphology", + "Aplasia/Hypoplasia affecting the eye", + "Functional abnormality of male internal genitalia", + "vein", + "multi cell part structure", + "abnormal prepuce of penis morphology", + "myocardium", + "external ear", + "abnormal telencephalon morphology", + "Abnormality of the forehead", + "intromittent organ", + "organism", + "secondary palate", + "penis", + "Orofacial cleft", + "digestive system element", + "autopod bone", + "Neurodevelopmental abnormality", + "manual digit phalanx endochondral element", + "Abnormality of the immune system", + "abnormal skin of head morphology", + "abnormal neural tube closure", + "abnormal cardiovascular system morphology", + "Abnormality of mental function", + "nervous system process", + "Abnormal toe phalanx morphology", + "arch of centrum of vertebra", + "Metazoa", + "abnormal parasympathetic ganglion morphology", + "abnormality of internal male genitalia physiology", + "decreased length of forelimb zeugopod bone", + "limb endochondral element", + "abnormal brain ventricle/choroid plexus morphology", + "Abnormal cerebral ventricle morphology", + "structure with developmental contribution from neural crest", + "abnormal nervous system morphology", + "abnormal central nervous system morphology", + "Abnormal preputium morphology", + "Neural tube defect", + "organ system subdivision", + "Aplasia/Hypoplasia involving bones of the skull", + "tissue morphogenesis", + "abnormal brain ventricle morphology", + "skeletal joint", + "Abnormal cardiovascular system physiology", + "Abnormal cerebrospinal fluid morphology", + "forelimb bone", + "Abnormal uvula morphology", + "abnormally increased number of anatomical entity", + "ventricular system of central nervous system", + "Abnormal shape of the frontal region", + "central nervous system", + "abnormal arm", + "Abnormality of limb bone", + "autopod endochondral element", + "cognition", + "ventricular system of brain", + "shape anatomical entity", + "anatomical entity hypoplasia in independent continuant", + "Facial asymmetry", + "Abnormal leukocyte count", + "anatomical entity dysfunction in independent continuant", + "abnormal brain morphology", + "abnormal heart layer morphology", + "Abnormal frontal bone morphology", + "Abnormality of lower limb joint", + "Recurrent infections", + "Morphological central nervous system abnormality", + "organ component layer", + "Hydrocephalus", + "forelimb zeugopod bone", + "abnormal anus morphology", + "abnormally increased number of brain ventricle in the independent continuant", + "cerebrospinal fluid", + "abnormal nervous system", + "abnormally fused pedal digit and pedal digit", + "future central nervous system", + "nervous system development", + "abnormal manual digit morphology in the manus", + "material anatomical entity", + "abnormal internal naris", + "Cranial nerve paralysis", + "developmental process", + "abnormal ureter", + "absent anatomical entity in the independent continuant", + "manual digit 1 or 5", + "abdominal segment bone", + "abnormal forelimb morphology", + "abnormal autonomic nervous system", + "abnormal cornea, asymmetrically curved", + "Abnormal cellular immune system morphology", + "Abnormality of male external genitalia", + "abnormal forehead", + "abnormal voluntary movement behavior", + "tissue", + "abnormal behavior process", + "abnormal axial skeleton plus cranial skeleton morphology", + "absent anatomical entity in the semen", + "subdivision of organism along appendicular axis", + "Abnormal male reproductive system physiology", + "abnormal cerebrospinal fluid morphology", + "zeugopodial skeleton", + "Small intestinal stenosis", + "male gamete generation", + "sexual reproduction", + "abnormal synovial joint of pelvic girdle morphology", + "embryo", + "Absent testis", + "exocrine system", + "Abnormality of the genitourinary system", + "Abnormality of the outer ear", + "abnormal gamete", + "quality", + "phenotype by ontology source", + "Abnormality of the male genitalia", + "Abnormality of blood and blood-forming tissues", + "abnormality of multicellular organism height", + "abnormal limb morphology", + "upper urinary tract", + "right cardiac chamber", + "manual digitopodium region", + "abnormal enteric nervous system morphology", + "anterior region of body", + "Abnormality of the upper limb", + "entity", + "Decreased anatomical entity mass", + "anatomical system", + "upper digestive tract", + "dorsum", + "cranial nerve", + "testis", + "reproductive structure", + "abnormal ulna morphology", + "gonad", + "Decreased anatomical entity mass density", + "ganglion", + "abnormal shape of external ear", + "opaque lens of camera-type eye", + "epithelial tube", + "Finger clinodactyly", + "iris", + "absent gamete", + "naris", + "mesoderm-derived structure", + "abnormal male reproductive system morphology", + "Abnormality of the gastrointestinal tract", + "internal male genitalia", + "digestive system", + "curved anatomical entity", + "decreased length of long bone", + "material entity", + "increased reflex", + "long bone", + "system development", + "abnormal multicellular organismal reproductive process", + "abnormal anatomical entity, asymmetrically curved", + "manual digit", + "abnormal reproductive process", + "abnormal shape of continuant", + "system process", + "male gamete", + "cell differentiation", + "abnormal cerebral cortex morphology", + "abnormal arch of centrum of vertebra", + "bone of appendage girdle complex", + "anatomical wall", + "abnormality of anatomical entity height", + "abnormal heart right ventricle morphology", + "neural crest-derived structure", + "epithelial tube formation", + "asymmetrically curved cornea", + "hindlimb", + "continuant", + "Intrauterine growth retardation", + "abnormal cornea morphology", + "entire sense organ system", + "lower urinary tract", + "Abnormality of globe location", + "Tracheoesophageal fistula", + "Abnormal cardiac atrium morphology", + "Neoplasm", + "Abnormal intestine morphology", + "organ", + "pedal digit plus metapodial segment", + "occurrent", + "abnormal male reproductive organ morphology", + "pedal digit phalanx endochondral element", + "integumental system", + "semen", + "abnormality of anatomical entity physiology", + "multicellular organismal reproductive process", + "Abnormality of the head", + "heart", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "sensory system", + "absent sperm in the independent continuant", + "pelvic region element", + "abnormal systemic artery morphology", + "male organism", + "abnormal hindlimb joint", + "reproduction", + "vessel", + "lateral structure", + "Microphthalmia", + "absent anatomical entity in the multicellular organism", + "Abnormal nasal morphology", + "postcranial axial skeleton", + "abnormal vein morphology", + "abnormal external ear morphology", + "decreased qualitatively developmental process", + "camera-type eye", + "All", + "Abnormal bone structure", + "male reproductive organ", + "abnormal blood cell morphology", + "abnormal cell", + "disconnected anatomical group", + "upper limb segment", + "biological_process", + "Aplasia/Hypoplasia affecting the anterior segment of the eye", + "Abnormality of the genital system", + "Abnormal facial shape", + "tube morphogenesis", + "leukocyte", + "delayed biological_process", + "systemic artery", + "organism substance", + "Abnormal heart valve physiology", + "changed biological_process rate", + "absent germ cell", + "Abnormal erythroid lineage cell morphology", + "abnormal peripheral nervous system", + "ear", + "transudate", + "Abnormal joint morphology", + "forelimb endochondral element", + "abnormal duodenum morphology", + "abnormal leukocyte morphology", + "Abnormal respiratory system physiology", + "multicellular organismal process", + "bone of pelvic complex", + "organ part", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormal hip joint morphology", + "neuron projection bundle", + "Abnormal spinal cord morphology", + "external male genitalia", + "abnormality of cranial nerve physiology", + "abnormal pigmentation", + "independent continuant", + "anatomical line between pupils", + "abnormal number of anatomical enitites of type anatomical entity", + "forelimb skeleton", + "immune system", + "endocrine system", + "decreased qualitatively reproductive process", + "gamete generation", + "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Abnormal ganglion morphology", + "hepatobiliary system", + "subdivision of skeletal system", + "Abnormal external genitalia", + "pulmonary valve", + "cellular organisms", + "vertebral element", + "viscus", + "bone of free limb or fin", + "abnormal pedal digit morphology", + "abnormal ear", + "Abnormality of reproductive system physiology", + "abnormal size of head", + "abnormal external genitalia", + "radius endochondral element", + "Abnormal renal morphology", + "abnormal gamete generation", + "Abnormality of the curvature of the cornea", + "cell", + "abnormal interventricular septum morphology", + "Abnormality of the mouth", + "abnormal ductus arteriosus morphology", + "Finger syndactyly", + "limb", + "respiratory system", + "hip joint", + "abnormal ear morphology", + "abnormal number of anatomical enitites of type sperm", + "Abnormality of the cardiovascular system", + "dorsal region element", + "abnormal opening of the anatomical entity", + "Abnormal systemic arterial morphology", + "multicellular anatomical structure", + "hematopoietic system", + "spermatogenesis", + "abnormal shape of palpebral fissure", + "abnormal cardiac atrium morphology in the heart", + "morphogenesis of embryonic epithelium", + "haploid cell", + "conceptus", + "abnormal vertebra morphology", + "internal genitalia", + "aplasia or hypoplasia of iris", + "Abnormality of skin pigmentation", + "abnormality of respiratory system physiology", + "prepuce of penis", + "concave 3-D shape anatomical entity", + "abnormal heart left ventricle morphology", + "leg bone", + "abnormal tracheobronchial tree morphology", + "abnormal external male genitalia", + "abnormal anatomical entity morphology in the brain", + "Abnormal ear morphology", + "abnormal craniocervical region", + "manual digit digitopodial skeleton", + "flat anatomical entity in independent continuant", + "cardiac ventricle", + "abnormal internal genitalia", + "ocular surface region", + "platelet", + "Growth abnormality", + "hip", + "primary neural tube formation", + "renal pelvis/ureter", + "male urethral meatus", + "reproductive organ", + "anus atresia", + "abnormal skull morphology", + "Short long bone", + "abnormality of nervous system physiology", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "abnormal aorta morphology", + "increased pigmentation in skin of body", + "Abnormality of the testis size", + "hip dislocation", + "Abnormal cellular phenotype", + "neural tube development", + "external genitalia", + "Hypertrophic cardiomyopathy", + "abnormal number of anatomical enitites of type cell", + "abnormal limb bone morphology", + "tunica fibrosa of eyeball", + "Abnormal appendicular skeleton morphology", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormality of the urinary system", + "abnormality of reproductive system physiology", + "abnormally localised anatomical entity", + "abnormal anatomical entity morphology in the skeleton of pelvic complex", + "Abnormal heart morphology", + "Proptosis", + "changed embryo development rate", + "hindlimb stylopod", + "Abnormal esophagus morphology", + "Anemia", + "morphological feature", + "Abnormality of metabolism/homeostasis", + "forelimb zeugopod", + "abnormal testis morphology", + "reproductive process", + "abnormally formed anatomical entity in independent continuant", + "body proper", + "abnormal respiratory tube morphology", + "Abnormal morphology of female internal genitalia", + "anatomical cluster", + "blood", + "phenotype", + "abnormal pigmentation in independent continuant", + "Abnormal involuntary eye movements", + "Abnormal tracheal morphology", + "process", + "subdivision of organism along main body axis", + "prominent forehead", + "abnormal incomplete closing of the arch of centrum of vertebra", + "segment of manus", + "Abnormality of the nose", + "developmental process involved in reproduction", + "Abnormal anterior chamber morphology", + "abnormal innominate bone morphology", + "aplasia or hypoplasia of anatomical entity", + "limb long bone", + "compound organ", + "eye", + "abnormal synovial joint morphology", + "reproductive system", + "multi-limb segment region", + "ventricle of nervous system", + "paralysed anatomical entity", + "pelvic appendage", + "abnormal eyeball of camera-type eye", + "abnormal anterior uvea morphology", + "decreased size of the eyeball of camera-type eye", + "absent anatomical entity", + "cerebral cortex", + "tracheobronchial tree", + "malformed anatomical entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "Abnormality of the peripheral nervous system", + "trunk region element", + "skeleton of pectoral complex", + "specifically dependent continuant", + "abnormal autonomic nervous system morphology", + "ganglion of peripheral nervous system", + "Abnormal reflex", + "hindlimb joint", + "abnormal anatomical entity morphology", + "abnormally decreased number of anatomical entity in the independent continuant", + "Short palpebral fissure", + "Abnormal skeletal morphology", + "increased pigmentation", + "decreased spermatogenesis", + "anatomical structure development", + "arterial blood vessel", + "abnormal bone element mass density", + "main body axis", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Sloping forehead", + "abnormal manual digit 5 morphology", + "non-connected functional system", + "external soft tissue zone", + "digit plus metapodial segment", + "head", + "Dolichocephaly", + "common carotid artery plus branches", + "drooping eyelid", + "Abnormal cardiac ventricle morphology", + "abnormal small intestine morphology", + "Abnormality of brain morphology", + "abnormal heart morphology", + "appendage girdle region", + "anatomical structure morphogenesis", + "abnormal limb bone", + "abnormal spinal cord morphology", + "Hypogonadism", + "arm bone", + "urethral opening", + "Aganglionic megacolon", + "Abnormal nervous system morphology", + "sense organ", + "abnormal reproductive system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "Abnormality of head or neck", + "abnormally fused manual digit and anatomical entity", + "abnormally decreased functionality of the myocardium", + "Abnormal peripheral nerve morphology by anatomical site", + "Syndactyly", + "abnormal head morphology", + "digestive tract", + "abnormality of camera-type eye physiology", + "organism subdivision", + "subdivision of digestive tract", + "Abnormal pinna morphology", + "abnormally protruding anatomical entity", + "abnormal respiratory system morphology", + "respiratory airway", + "abnormal secondary palate morphology", + "venous system", + "musculoskeletal movement", + "decreased qualitatively biological_process", + "anatomical entity", + "abnormal trachea morphology", + "abnormal phenotype by ontology source", + "subdivision of trunk", + "behavior process", + "anterior chamber of eyeball", + "abnormal development of anatomical entity", + "increased biological_process", + "abnormal postcranial axial skeleton morphology", + "Abnormal ventriculoarterial connection", + "alimentary part of gastrointestinal system", + "abnormal renal system morphology", + "abnormal biological_process", + "abnormal cardiac ventricle morphology in the heart", + "Growth delay", + "kidney", + "embryo development", + "brain gray matter", + "Abnormal tracheobronchial morphology", + "subdivision of tube", + "Abnormal respiratory system morphology", + "Abnormal lens morphology", + "Multiple cafe-au-lait spots", + "system", + "transparent eye structure", + "Abnormality of the respiratory system", + "girdle skeleton", + "asymmetrically curved anatomical entity", + "Abnormal eye physiology", + "segment of autopod", + "thoracic segment of trunk", + "pes bone", + "abnormal bone of pelvic complex morphology", + "arm", + "Short stature", + "Abnormality of the vertebral column", + "abnormal digestive system", + "Abnormality of the digestive system", + "decreased anatomical entity mass", + "Abnormal morphology of the great vessels", + "pectoral complex", + "flat longitudinal arch of pes", + "abnormal bone of pectoral complex morphology", + "orifice", + "craniocervical region", + "abnormal developmental process", + "Abnormality of cardiovascular system morphology", + "abnormal respiratory system", + "Abnormal penis morphology", + "Intellectual disability", + "abnormal ocular adnexa", + "embryonic structure", + "brain ventricle/choroid plexus", + "proximo-distal subdivision of respiratory tract", + "Cognitive impairment", + "abnormal male reproductive system", + "abnormal mouth morphology", + "organ subunit", + "Abnormal neural tube morphology", + "ectoderm-derived structure", + "Aplasia/Hypoplasia of the testes", + "left cardiac chamber", + "Slanting of the palpebral fissure", + "Hip dislocation", + "Morphological abnormality of the gastrointestinal tract", + "oral cavity", + "vestibulo-ocular reflex", + "neocortex", + "Abnormality of refraction", + "digit 5", + "abnormal long bone morphology", + "digitopodium bone", + "endoderm-derived structure", + "abnormal penis", + "germ line cell", + "bone element hypoplasia in independent continuant", + "abnormal artery morphology", + "respiratory tract", + "respiratory tube", + "glans", + "abnormality of male reproductive system physiology", + "tube", + "brain ventricle", + "future nervous system", + "skeleton", + "multicellular organism", + "thoracic cavity element", + "Nystagmus", + "esophagus", + "physiologic nystagmus", + "hemolymphoid system", + "Lower extremity joint dislocation", + "lower respiratory tract", + "visual system", + "abnormal camera-type eye morphology", + "cornea", + "abdominal wall", + "3-D shape anatomical entity", + "Abnormality of the ear", + "eyelid", + "abnormally decreased number of leukocyte", + "orbital region", + "multicellular organism development", + "Ventriculomegaly", + "Abnormal anterior eye segment morphology", + "abnormal anatomical entity", + "Abnormality of the upper urinary tract", + "abnormal bony vertebral centrum morphology", + "abnormal alimentary part of gastrointestinal system", + "Abnormal carotid artery morphology", + "Astigmatism", + "circulatory organ", + "uvea", + "shape cornea", + "paired limb/fin segment", + "pelvic girdle region", + "simple eye", + "abnormal posterior nasal aperture morphology", + "curvature anatomical entity", + "abnormal orbital region", + "morphogenesis of an epithelium", + "epithelial tube morphogenesis", + "abnormal palpebral fissure", + "abnormal tube formation", + "circulatory system", + "Spina bifida", + "Aplasia/hypoplasia involving bones of the extremities", + "multicellular organismal-level homeostasis", + "anterior segment of eyeball", + "chordate embryonic development", + "skeleton of digitopodium", + "embryonic epithelial tube formation", + "cranium", + "dermatocranium", + "Abnormal axial skeleton morphology", + "abnormal vertebral column", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "Abnormal ileum morphology", + "increased qualitatively biological_process in independent continuant", + "joint of girdle", + "neural tube closure", + "abnormal ileum morphology", + "abnormal eyelid morphology", + "manus", + "abnormal nose morphology", + "embryonic tissue", + "ileum", + "Ventricular septal defect", + "small intestine", + "Abnormal jaw morphology", + "irregular bone", + "Meckel diverticulum", + "trunk bone", + "Azoospermia", + "Abnormal small intestine morphology", + "skeleton of lower jaw", + "abnormal small intestine", + "anus", + "Abnormal skull morphology", + "Abnormal anus morphology", + "Abnormal ear physiology", + "ecto-epithelium", + "abnormal closing of the anatomical entity", + "abnormal anus", + "Abnormal spermatogenesis", + "anatomical entity atresia", + "abnormally fused manual digit and manual digit", + "sensory perception", + "Abnormality of corneal shape", + "abnormality of anatomical entity mass", + "abnormality of multicellular organism mass", + "Abnormality of body weight", + "Weight loss", + "Decreased body weight", + "autopodial extension", + "growth", + "cardiac valve", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal craniocervical region morphology", + "abnormal growth", + "pelvic complex", + "Abnormality of the skin", + "outflow tract of ventricle", + "Abnormality of the choanae", + "abnormal iris morphology", + "abnormal cardiac ventricle morphology in the independent continuant", + "abnormal forelimb zeugopod bone", + "valve", + "abnormal platelet morphology", + "abnormal anatomical entity morphology in the manus", + "increased length of the anatomical entity", + "Cafe-au-lait spot", + "thoracic cavity blood vessel", + "aortic valve", + "abnormal internal ear", + "abnormal outflow part of left ventricle morphology", + "abnormal anatomical entity morphology in the heart", + "curvature anatomical entity in independent continuant", + "hypothalamus-pituitary axis", + "endochondral element", + "anatomical entity hypoplasia", + "abnormal cardiac ventricle morphology", + "motile cell", + "abnormal leg", + "internal ear", + "heart left ventricle", + "epithelium", + "autopodial skeleton", + "abnormal cardiac valve morphology in the independent continuant", + "Opisthokonta", + "Abnormality of digestive system morphology", + "Abnormality of the ocular adnexa", + "gamete", + "upper jaw region", + "Abnormal eyelid morphology", + "Abnormal facial skeleton morphology", + "multi organ part structure", + "increased length of the anatomical line between pupils", + "palpebral fissure", + "Abnormal ocular adnexa morphology", + "Upslanted palpebral fissure", + "manual digit plus metapodial segment", + "Abnormal bone ossification", + "female reproductive organ", + "ocular adnexa", + "obsolete multicellular organism reproduction", + "decreased developmental process", + "Abnormality of the palpebral fissures", + "Abnormal testis morphology", + "deviation of anatomical entity towards the middle", + "opaque anatomical entity", + "heart right ventricle", + "increased size of the anatomical entity", + "lens of camera-type eye", + "Cataract", + "abnormal lens of camera-type eye morphology", + "Atrial septal defect", + "drooping anatomical entity", + "clavate digit", + "shape eyelid", + "Ptosis", + "Abnormal cornea morphology", + "gland", + "abnormal artery morphology in the independent continuant", + "Abnormality iris morphology", + "abnormal penis morphology", + "abnormal cranium morphology", + "myeloid cell homeostasis", + "glans penis", + "Neoplasm by anatomical site", + "olfactory system", + "Abnormality of the nervous system", + "pedal digit digitopodial skeleton", + "pelvic region of trunk", + "bony vertebral centrum", + "abnormal olfactory system morphology", + "abnormal nose", + "sperm", + "internal naris", + "olfactory organ", + "cranial skeletal system", + "nose", + "endocrine gland", + "posterior nasal aperture", + "decreased size of the anatomical entity in the pectoral complex", + "musculature of body", + "nerve of head region", + "internal naris atresia", + "Abnormal male urethral meatus morphology", + "male urethra", + "posterior nasal aperture atresia", + "Hypospadias", + "epicanthal fold", + "hindlimb long bone", + "excretory system", + "abnormal urethra", + "renal system", + "abnormal lower urinary tract", + "segment of pes", + "voluntary movement behavior", + "Renal hypoplasia/aplasia", + "thoracic segment organ", + "urethra", + "gray matter of telencephalon", + "urethral meatus", + "nervous system", + "abnormal face", + "Displacement of the urethral meatus", + "abnormally fused anatomical entity and manual digit", + "abnormal renal system", + "Abnormality of the urethra", + "abnormal limb", + "immaterial entity", + "Abnormality of the lower urinary tract", + "abnormal spermatogenesis", + "Abnormal shape of the palpebral fissure", + "Scoliosis", + "Abnormal curvature of the vertebral column", + "tube closure", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormality of the abdominal organs", + "autopod region", + "Abnormal forearm morphology", + "Abnormality of enteric nervous system morphology", + "regional part of nervous system", + "Abnormal midface morphology", + "Deviation of the 5th finger", + "regional part of brain", + "Visual impairment", + "ulna", + "abdomen", + "deviation of manual digit towards the middle", + "Abnormal vascular morphology", + "Abnormality of skull size", + "Abnormal pulmonary valve morphology", + "abnormal anterior chamber of eyeball morphology", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "telencephalon", + "Decreased head circumference", + "abnormality of renal system physiology", + "abnormal esophagus morphology", + "abnormal size of anatomical entity", + "Leukopenia", + "abnormal hematopoietic system", + "abnormal ocular adnexa morphology", + "abnormally decreased number of hematopoietic cell", + "semi-lunar valve", + "hematopoietic cell", + "nucleate cell", + "abnormal uvea morphology", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal number of anatomical enitites of type hematopoietic cell", + "digit 1 plus metapodial segment", + "synovial joint", + "Abnormality of the anus", + "abnormal immune system", + "pedal digitopodium region", + "abnormally decreased number of cell", + "Functional abnormality of the inner ear", + "pedal digit", + "haemolymphatic fluid", + "abnormally decreased number of leukocyte in the blood", + "axial skeleton plus cranial skeleton", + "Abnormal leukocyte morphology", + "abnormal number of anatomical entities of type anatomical entity in blood", + "abnormal kidney", + "abnormal number of anatomical enitites of type leukocyte", + "Abnormality of thrombocytes", + "Abnormal immune system morphology", + "abnormally decreased number of anatomical entity in the multicellular organism", + "digit 5 plus metapodial segment", + "Myelodysplasia", + "abnormal immune system morphology", + "Hematological neoplasm", + "Reduced bone mineral density", + "abnormal size of brain ventricle", + "nerve", + "Frontal bossing", + "zone of organ", + "increased size of the brain ventricle", + "Abnormality of vision", + "Non-obstructive azoospermia", + "increased size of the anatomical entity in independent continuant", + "central nervous system gray matter layer", + "chamber of eyeball", + "pedal digit bone", + "cardiac atrium", + "Abnormality of the integument", + "delayed growth", + "Abnormality of the endocrine system", + "forelimb", + "skeleton of pelvic complex", + "abnormal endocrine system", + "abdominal segment of trunk", + "Conotruncal defect", + "digestive system gland", + "musculoskeletal system", + "abdominal segment element", + "glandular system", + "jaw skeleton", + "abnormal uterus morphology", + "hindlimb bone", + "exocrine gland", + "Decreased fertility", + "behavior", + "abdomen element", + "Abnormality of the liver", + "liver", + "abnormal hypothalamus-pituitary axis", + "increased anatomical entity length in independent continuant", + "Hypertelorism", + "abnormally fused pedal digit and anatomical entity", + "abnormal location of anatomical entity", + "Cardiomyopathy", + "flat bone", + "immaterial anatomical entity", + "abnormal anatomical entity, curved", + "anatomical line", + "non-material anatomical boundary", + "abnormal anatomical entity topology in independent continuant", + "abnormal anatomical entity length", + "cavitated compound organ", + "Abnormal duodenum morphology", + "duodenum", + "Abnormality of the lower limb", + "skeleton of pedal digitopodium", + "skeleton of pedal acropodium", + "vertebral centrum element", + "pelvic appendage skeleton", + "hindlimb endochondral element", + "skeleton of pes", + "abnormal incomplete closing of the interventricular septum", + "Abnormal toe morphology", + "pes", + "abnormal phalanx morphology", + "Choanal atresia", + "acropodial skeleton", + "digitopodium region", + "3-D shape anatomical entity in independent continuant", + "Abnormal digit morphology", + "Duodenal stenosis", + "Abnormal foot morphology", + "Hypermelanotic macule", + "digit", + "abnormal hindlimb morphology", + "clavate anatomical entity", + "Hydroureter", + "Abnormal uterus morphology", + "Abnormal oral morphology", + "abnormal digit morphology", + "shape forehead", + "posterior region of body", + "individual digit of digitopodial skeleton", + "phalanx endochondral element", + "abnormal forehead morphology", + "Abnormal lower limb bone morphology", + "abnormal digit", + "leg", + "abnormally decreased number of anatomical entity in the blood", + "phalanx of pes", + "phalanx", + "abnormal skeletal system morphology", + "lower limb segment", + "abnormal autopod region morphology", + "nervous system cell part layer", + "aplasia or hypoplasia of uvea", + "abnormal pes morphology", + "abnormal phalanx of pes morphology", + "genitourinary system", + "Limb undergrowth", + "Abnormality of the kidney", + "abnormal kidney morphology", + "skull", + "femur", + "Decreased fertility in males", + "primary circulatory organ", + "aplasia or hypoplasia of palatine uvula", + "abnormal joint of girdle morphology", + "anatomical projection", + "Abnormal aortic valve morphology", + "midface", + "abnormal soft palate morphology", + "abnormal mouth", + "Abnormal soft palate morphology", + "shape palpebral fissure", + "abnormal palatine uvula morphology", + "anatomical cavity", + "abnormal midface morphology", + "palatine uvula", + "Abnormal erythrocyte morphology", + "soft palate", + "abnormal oral cavity morphology", + "Abnormal oral cavity morphology", + "abnormal asymmetry of face", + "abnormal integument", + "abnormal cardiac valve morphology", + "Localized skin lesion", + "Abnormal 5th finger morphology", + "Abnormal thumb morphology", + "aplasia or hypoplasia of ulna", + "manual digit bone", + "abnormal biological_process in independent continuant", + "non-functional kidney", + "decreased size of the anatomical entity", + "Abnormal cerebral cortex morphology", + "forebrain", + "increased qualitatively biological_process", + "abnormal cell morphology", + "anatomical collection", + "Macule", + "eyeball of camera-type eye", + "abnormal upper urinary tract", + "abnormal skin of body", + "abnormal nerve", + "abnormally increased number of anatomical entity in the independent continuant", + "limb joint", + "Hyperpigmentation of the skin", + "Abnormality of skin morphology", + "integument", + "abnormality of kidney physiology", + "changed biological_process rate in independent continuant", + "increased biological_process in independent continuant", + "ulna hypoplasia", + "increased biological_process in skin of body", + "abnormal cornea, curved", + "pigmentation", + "increased pigmentation in independent continuant", + "skeleton of manus", + "abnormal cardiac valve morphology in the heart", + "Abnormality of the hand", + "bone of hip region", + "Aplasia/hypoplasia of the extremities", + "Aplasia/Hypoplasia of fingers", + "abnormal manus", + "decreased pigmentation in skin of body", + "Abnormal finger morphology", + "Aplasia/hypoplasia involving bones of the hand", + "Aplasia/hypoplasia involving the skeleton", + "abnormal manus morphology", + "vascular system", + "abnormal anterior segment of eyeball morphology", + "aplasia or hypoplasia of skeleton", + "male reproductive system", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "Abnormal internal genitalia", + "abnormally fused anatomical entity and digit", + "abnormal developmental process involved in reproduction", + "abnormally fused digit and anatomical entity", + "appendage", + "abnormally fused digit and digit", + "Clinodactyly of the 5th finger", + "anatomical space", + "abnormally fused anatomical entity and anatomical entity", + "biogenic amine secreting cell", + "ossification", + "Abnormality of bone mineral density", + "manual digit 5", + "cardiac chamber", + "abnormal spatial pattern of anatomical entity", + "appendicular skeletal system", + "abnormal location of eyeball of camera-type eye", + "deviation of manual digit 5", + "trunk", + "manual digit 5 plus metapodial segment", + "digit 1 or 5", + "deviation of digit towards the middle", + "abnormal late embryo", + "Deviation of the hand or of fingers of the hand", + "Abnormality of the hypothalamus-pituitary axis", + "deviation of anatomical entity", + "deviation of manual digit", + "paired limb/fin skeleton", + "Abnormal nervous system physiology", + "Hypoplasia of the ulna", + "hypertrophic multicellular anatomical structure", + "dermal skeletal element", + "decreased length of anatomical entity in independent continuant", + "decreased height of the anatomical entity", + "Abnormality of the eye", + "decreased size of the ulna", + "forelimb zeugopod bone hypoplasia", + "Upper limb undergrowth", + "abnormal incomplete closing of the interatrial septum", + "intestine", + "Decreased multicellular organism mass", + "Aplasia/Hypoplasia of the ulna", + "aplasia or hypoplasia of telencephalon", + "decreased size of the anatomical entity in the independent continuant", + "Short forearm", + "increased height of the secondary palate", + "Tetralogy of Fallot", + "Forearm undergrowth", + "Aplasia/hypoplasia involving forearm bones", + "articulation", + "skeletal joint dislocation", + "articular system", + "peripheral nervous system", + "abnormal hip joint morphology", + "pelvic girdle skeleton", + "pelvic girdle bone/zone", + "systemic arterial system", + "Abnormal cerebral morphology", + "Joint dislocation", + "Micrognathia", + "anatomical entity dislocation", + "Abnormal localization of kidney", + "abnormal skeletal joint morphology", + "skin of body", + "cerebral hemisphere gray matter", + "abnormal pelvic girdle bone/zone morphology", + "abnormal embryonic tissue morphology", + "zone of bone organ", + "Abnormal hip bone morphology", + "Aplasia/Hypoplasia of the radius", + "Abnormal pelvic girdle bone morphology", + "abnormal external ear", + "girdle bone/zone", + "abnormal jaw skeleton morphology", + "Abnormality of the face", + "synovial joint of pelvic girdle", + "abnormal hindlimb stylopod morphology", + "Abnormality of femur morphology", + "abnormal femur morphology", + "dentary", + "femur endochondral element", + "stylopod", + "upper leg bone", + "Abnormality of enteric ganglion morphology", + "Unusual infection", + "abnormal enteric ganglion morphology", + "Abnormal autonomic nervous system morphology", + "abnormal skin of body morphology", + "Abnormal peripheral nervous system ganglion morphology", + "enteric ganglion", + "abnormal face morphology", + "axial skeletal system", + "abnormal intestine morphology", + "autonomic ganglion", + "parasympathetic nervous system", + "Abnormality of the autonomic nervous system", + "autonomic nervous system", + "Abnormal hand morphology", + "abnormal ganglion of peripheral nervous system morphology", + "parasympathetic ganglion", + "enteric nervous system", + "abnormal ocular surface region morphology", + "abnormal ganglion morphology", + "abnormal vascular system morphology", + "cortex of cerebral lobe", + "abnormal frontal cortex morphology", + "tetrapod frontal bone", + "abnormal roof of mouth morphology", + "prominent anatomical entity", + ], + "has_phenotype_count": 106, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0060778", + "category": "biolink:Disease", + "name": "adult Fanconi syndrome", + "full_name": None, + "deprecated": None, + "description": "Probably related to a recessive gene, this is Fanconi Syndrome, characterized by adult onset.", + "xref": ["NCIT:C4377"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": ["HP:0003581"], + "has_phenotype_label": ["Adult onset"], + "has_phenotype_closure": ["HP:0003581", "HP:0012823", "HP:0000001", "HP:0003674", "HP:0031797"], + "has_phenotype_closure_label": ["Clinical course", "All", "Adult onset", "Clinical modifier", "Onset"], + "has_phenotype_count": 1, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0009217", + "category": "biolink:Disease", + "name": "Fanconi-like syndrome", + "full_name": None, + "deprecated": None, + "description": "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.", + "xref": ["DOID:0090066", "MESH:C536855", "OMIM:227850", "SCTID:236469003", "UMLS:C0151638"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": ["Fanconi-like syndrome"], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": ["HP:0002754", "HP:0002783", "HP:0005939", "HP:0001876", "HP:0007606"], + "has_phenotype_label": [ + "Osteomyelitis", + "Recurrent lower respiratory tract infections", + "Multiple bilateral pneumothoraces", + "Pancytopenia", + "Multiple cutaneous malignancies", + ], + "has_phenotype_closure": [ + "HP:0001574", + "UBERON:0004121", + "HP:0007606", + "HP:0011793", + "UBERON:0002097", + "UBERON:0002199", + "UBERON:0002416", + "HP:0002664", + "UPHENO:0002635", + "UPHENO:0085302", + "HP:0032251", + "HP:0001876", + "UPHENO:0085195", + "UPHENO:0084928", + "UPHENO:0076675", + "CL:0002242", + "UPHENO:0086005", + "CL:0000219", "CL:0001035", - "UPHENO:0080581", - "UPHENO:0002598", + "UBERON:0002193", + "CL:0000225", + "CL:0000255", + "UPHENO:0011498", + "HP:0025354", "CL:0000151", + "HP:0011873", + "UBERON:0002371", + "UPHENO:0087123", + "HP:0011842", + "UPHENO:0063722", + "HP:0001872", "HP:0012145", "UPHENO:0084987", - "GO:0006950", - "GO:0031327", - "HP:0001872", + "UPHENO:0085068", + "UPHENO:0006910", + "UPHENO:0086049", + "UPHENO:0085118", + "UPHENO:0086172", "UBERON:0000479", - "GO:0031324", - "UPHENO:0086173", "HP:0005561", - "CL:0000458", - "UBERON:0015063", - "UPHENO:0086049", + "UPHENO:0087355", "HP:0011875", - "HP:0001873", - "GO:1901360", - "HP:0011873", - "HP:0001876", - "UBERON:0004708", - "CL:0000457", - "CL:0000408", - "CL:0000329", - "GO:0019953", - "CL:0000764", - "HP:0012373", - "CL:0000232", - "UBERON:0004765", - "UPHENO:0026980", - "UPHENO:0008593", - "UBERON:0003129", - "UPHENO:0025211", - "UBERON:0004054", - "UPHENO:0086700", - "UPHENO:0078606", - "HP:0011991", - "UPHENO:0002896", - "HP:0045060", - "GO:0007610", - "UBERON:0002199", - "UBERON:5002544", - "UBERON:0010707", - "CL:0000988", - "HP:0001167", - "UBERON:0010740", - "UBERON:5001463", - "HP:0009998", - "HP:0100887", - "UBERON:0005177", - "UBERON:0002529", - "HP:0040064", - "HP:0009380", - "UPHENO:0009341", - "UPHENO:0084448", - "HP:0009115", - "HP:0002817", - "UBERON:0010363", - "UPHENO:0076740", - "UPHENO:0049587", - "UBERON:0002470", - "UPHENO:0051124", - "UPHENO:0069254", - "UBERON:0004710", - "UBERON:0008785", - "HP:0001892", - "UBERON:0001440", - "UPHENO:0002905", - "UPHENO:0080325", - "UBERON:0004381", - "UBERON:0012140", - "UPHENO:0086635", - "UPHENO:0026183", - "UBERON:0011676", - "UPHENO:0084766", - "UBERON:0002097", - "HP:0007364", - "UPHENO:0002830", - "UPHENO:0002880", - "UBERON:0002091", - "UBERON:0004176", - "UBERON:0002428", - "UBERON:0007272", - "UPHENO:0005651", - "UPHENO:0053588", - "UBERON:0002102", - "UPHENO:0050021", - "UPHENO:0002964", - "UBERON:0002544", - "UPHENO:0086956", + "UPHENO:0088166", + "UPHENO:0076703", + "CL:0002092", "UPHENO:0085144", - "HP:0002977", - "UBERON:5002389", - "UPHENO:0018390", - "UBERON:0010708", - "HP:0000002", - "HP:0011842", - "HP:0001017", - "UPHENO:0088321", - "UPHENO:0076724", - "HP:0001155", - "UPHENO:0049940", - "NCBITaxon:1", - "UPHENO:0008523", - "UPHENO:0087006", - "UPHENO:0087510", - "UPHENO:0086633", - "UBERON:0002371", - "HP:0000077", - "UPHENO:0080114", - "UBERON:0001474", - "CL:0000255", - "HP:0000818", - "UBERON:0000990", - "UPHENO:0050625", - "UPHENO:0074589", - "UPHENO:0066927", - "UPHENO:0000541", - "UPHENO:0087339", - "UPHENO:0075220", - "UPHENO:0003055", - "PR:000050567", - "HP:0000080", - "UBERON:0006800", - "GO:0006325", - "CL:0002242", - "HP:0000078", - "UPHENO:0053644", - "HP:0009601", - "GO:0051319", - "GO:0051325", - "GO:0044848", - "GO:0009987", - "HP:0011018", - "UBERON:0010000", - "GO:0007049", - "UPHENO:0050121", - "UPHENO:0087501", - "HP:0003214", - "UPHENO:0004523", - "HP:0025461", - "GO:0005623", - "HP:0004742", - "UBERON:0001456", - "UPHENO:0075787", - "UBERON:0001436", - "UPHENO:0080662", - "UPHENO:0088170", - "UBERON:0000948", - "GO:0048519", - "HP:0040070", - "UBERON:0002090", - "UBERON:0000991", - "UPHENO:0031839", - "UBERON:0002416", - "GO:0048523", + "HP:0011893", + "HP:0020047", + "UPHENO:0004459", + "CL:0000233", + "CL:0000232", + "CL:0000458", + "CL:0000763", + "UPHENO:0085371", + "CL:0000457", + "CL:0000738", + "UPHENO:0086045", + "UPHENO:0085984", + "UPHENO:0077426", + "UPHENO:0086173", + "NCBITaxon:33154", + "NCBITaxon:6072", + "BFO:0000020", + "BFO:0000015", + "HP:0008069", + "UBERON:0001474", + "HP:0005939", + "CL:0000000", "UPHENO:0054970", - "HP:0000951", - "UBERON:0011582", - "HP:0011276", - "GO:0044237", - "HP:0001574", - "HP:0000240", - "HP:0001172", - "UBERON:0004175", - "HP:0012638", - "UPHENO:0074584", - "HP:0000478", - "UPHENO:0026028", - "UPHENO:0074575", + "HP:0002719", + "BFO:0000004", + "UBERON:0001005", + "UPHENO:0080377", + "UBERON:0001062", + "UBERON:0000042", + "UBERON:0002204", + "UBERON:0004765", + "UBERON:0034923", + "UPHENO:0081440", + "BFO:0000040", + "UPHENO:0074624", + "UBERON:0015212", + "UPHENO:0083263", + "UBERON:0000468", "UPHENO:0001005", - "UPHENO:0054957", - "UPHENO:0003116", - "UPHENO:0076739", - "HP:0011446", - "UPHENO:0050008", - "NCBITaxon:33208", - "UPHENO:0085302", - "UBERON:0010314", - "GO:0006259", - "OBI:0100026", - "UPHENO:0086589", - "HP:0011961", + "UBERON:0002390", + "GO:0006954", + "HP:0002754", + "HP:0010978", + "UPHENO:0002964", + "HP:0000951", + "HP:0012252", + "GO:0006952", + "HP:0002715", + "UBERON:0000025", + "CL:0000329", + "HP:0012647", + "UPHENO:0081590", "UPHENO:0003811", - "UPHENO:0076702", - "HP:0011028", - "UBERON:0011250", - "UPHENO:0049367", - "UPHENO:0022529", - "UBERON:0012139", - "UBERON:0015023", - "UPHENO:0010795", - "UBERON:0003607", - "UPHENO:0087518", - "UPHENO:0076805", - "UPHENO:0084763", - "UPHENO:0088166", - "HP:0010935", - "UBERON:0002398", - "GO:0033554", - "UPHENO:0009382", - "UBERON:0004100", - "HP:0000234", - "UPHENO:0085356", - "HP:0000980", - "HP:0100547", - "UBERON:0001890", - "HP:0000152", - "UBERON:0007811", - "UPHENO:0002910", - "HP:0002011", - "HP:0009121", - "UPHENO:0002764", - "HP:0011844", - "UPHENO:0049701", - "UPHENO:0053298", - "HP:0001877", - "UPHENO:0011498", - "UBERON:0010912", - "UBERON:0000020", - "UPHENO:0076799", - "UPHENO:0075195", - "UBERON:0012141", - "UPHENO:0080126", - "UBERON:0005172", - "HP:0000252", + "UPHENO:0082682", + "UPHENO:0049587", + "HP:0010987", + "UBERON:0000977", + "HP:0000924", + "BFO:0000002", + "PATO:0000001", + "UBERON:0000915", + "BFO:0000001", + "UPHENO:0080662", + "UBERON:0004120", + "UPHENO:0001002", + "UPHENO:0074687", + "UPHENO:0080693", + "UPHENO:0080221", + "UPHENO:0074685", + "UBERON:0000481", + "UPHENO:0002332", + "HP:0033127", + "UPHENO:0059829", + "UBERON:0002405", + "NCBITaxon:2759", + "UBERON:0000061", "HP:0001881", - "HP:0000079", - "RO:0002577", - "HP:0006265", - "UBERON:0004121", - "UBERON:0000955", - "UBERON:0015025", - "CL:0000300", - "HP:0008678", - "HP:0000708", - "UBERON:0001968", - "UPHENO:0081451", - "UPHENO:0046505", - "UPHENO:0020888", + "UPHENO:0085344", + "HP:0002205", + "UBERON:0000065", + "UBERON:0000467", + "UBERON:0002100", + "UBERON:0011216", + "UBERON:0001434", + "HP:0011843", + "HP:0002088", + "UPHENO:0001003", + "HP:0000118", + "UBERON:0000064", + "UPHENO:0086908", + "UPHENO:0001001", + "UPHENO:0002263", + "UPHENO:0082875", + "UBERON:0010000", + "CL:0000764", + "UPHENO:0074572", + "NCBITaxon:1", + "UPHENO:0002948", + "UPHENO:0049588", + "UPHENO:0002536", + "UPHENO:0002448", + "UBERON:0015203", + "UBERON:0005906", + "CL:0000988", + "UBERON:0000465", + "UPHENO:0082723", + "UPHENO:0015280", + "UPHENO:0085070", + "UPHENO:0076692", + "UBERON:0001004", + "UBERON:0013522", + "BFO:0000003", + "PR:000050567", + "UPHENO:0087339", + "UPHENO:0087433", + "UPHENO:0076684", + "UBERON:0001558", + "UBERON:0013701", + "CL:0000081", + "UBERON:0009569", + "UBERON:0000475", + "UPHENO:0020748", + "UBERON:0000062", + "HP:0002086", + "HP:0002783", + "UPHENO:0004536", + "UBERON:0003103", + "GO:0050896", + "UPHENO:0049584", + "HP:0012649", + "UBERON:0000060", + "UBERON:0011676", + "UBERON:0000072", + "HP:0011947", + "OBI:0100026", + "UPHENO:0020584", + "HP:0000001", + "UBERON:0004111", + "UBERON:0005178", + "HP:0032101", + "HP:0001871", + "UPHENO:0049586", + "UPHENO:0075696", + "HP:0002103", + "UBERON:0005181", + "HP:0025461", + "UPHENO:0085189", + "NCBITaxon:33208", + "UBERON:0000077", + "UBERON:0002075", + "HP:0001873", + "UBERON:0013702", + "UPHENO:0019970", + "GO:0008150", + "HP:0002795", + "UBERON:0034925", + "UBERON:0002048", + "UBERON:0000171", + "UBERON:0005177", + "UBERON:0004119", + "UBERON:0000170", + "HP:0002107", + "GO:0006950", + "NCBITaxon:131567", + "UBERON:0009778", + ], + "has_phenotype_closure_label": [ + "Abnormality of the skin", + "Multiple cutaneous malignancies", + "Neoplasm of the skin", + "integumental system", + "Neoplasm", + "Neoplasm by anatomical site", + "cell", + "Pancytopenia", + "Abnormal immune system morphology", + "serotonin secreting cell", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal bone marrow cell", + "Abnormal cell morphology", + "abnormally decreased number of anatomical entity", + "Abnormality of blood and blood-forming tissues", + "abnormal hematopoietic cell morphology", + "bone marrow", + "abnormal bone marrow cell morphology", + "skeletal element", + "abnormal hematopoietic system morphology", + "abnormally decreased number of cell", + "bone element", + "abnormal myeloid cell morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormally decreased number of platelet", + "abnormal number of anatomical enitites of type platelet", + "platelet", + "Abnormal cellular immune system morphology", + "erythrocyte", + "leukocyte", + "Abnormal cellular phenotype", + "abnormal platelet", + "Abnormality of bone marrow cell morphology", + "bone cell", + "nucleate cell", + "oxygen accumulating cell", + "hemolymphoid system", + "hematopoietic cell", + "Abnormal leukocyte count", + "secretory cell", + "abnormal hematopoietic system", + "abnormal leukocyte morphology", + "increased biological_process in bone element", + "increased biological_process in independent continuant", + "changed biological_process rate in independent continuant", + "abnormal skeletal system morphology", + "Abnormality of the musculoskeletal system", + "Eukaryota", + "bone marrow cell", + "hematopoietic system", + "Abnormality of the skeletal system", + "anatomical entity", + "Abnormal inflammatory response", + "abnormal integument", + "abnormal biological_process", + "increased inflammatory response", + "increased inflammatory response in bone element", + "abnormally decreased number of myeloid cell", + "compound organ", + "abnormal anatomical entity", + "occurrent", + "Osteomyelitis", + "anucleate cell", + "phenotype by ontology source", + "abnormal cell", + "Abnormal respiratory system physiology", + "increased qualitatively biological_process in independent continuant", + "anatomical structure", + "anatomical conduit", + "increased qualitatively response to stimulus", + "Thrombocytopenia", + "Abnormality of immune system physiology", + "viscus", + "abnormal immune system morphology", + "Eumetazoa", + "defense response", + "Abnormality of the integument", + "protein-containing material entity", + "motile cell", + "independent continuant", + "material entity", + "abnormal phenotype by ontology source", + "phenotype", + "biological_process", + "quality", + "abnormal cell morphology", + "myeloid cell", + "immune system", + "root", + "Increased inflammatory response", + "tissue", + "continuant", + "entity", + "disconnected anatomical group", + "abnormal number of anatomical enitites of type cell", + "increased inflammatory response in independent continuant", + "trunk", + "abnormality of musculoskeletal system physiology", + "abnormal blood cell morphology", + "Phenotypic abnormality", + "abnormality of immune system physiology", + "multicellular organism", + "Abnormal myeloid cell morphology", + "changed biological_process rate", + "Abnormal platelet morphology", + "abnormal anatomical entity morphology", + "lateral structure", + "skin of body", + "skeletal system", + "abnormal skin of body", + "musculoskeletal system", + "Abnormal pleura morphology", + "non-connected functional system", + "increased qualitatively inflammatory response", + "subdivision of tube", + "abnormal inflammatory response", + "Abnormal leukocyte morphology", + "response to stimulus", + "Abnormal skeletal morphology", + "abnormal response to stimulus", + "abnormal skeletal system", + "increased biological_process", + "integument", + "eukaryotic cell", + "increased qualitatively inflammatory response in independent continuant", + "inflammatory response", + "specifically dependent continuant", + "organ system subdivision", + "response to stress", + "ectoderm-derived structure", + "proximo-distal subdivision of respiratory tract", + "increased qualitatively biological_process", + "pleural sac", + "biogenic amine secreting cell", + "Abnormal musculoskeletal physiology", + "Abnormal platelet count", + "abnormal platelet morphology", + "material anatomical entity", + "erythroid lineage cell", + "multicellular anatomical structure", + "anatomical system", + "Abnormality of thrombocytes", + "organ", + "organism", + "abnormal respiratory system morphology", + "Abnormal lung morphology", + "abnormal anatomical entity morphology in the independent continuant", + "organ part", + "Recurrent respiratory infections", + "respiratory system", + "Multiple bilateral pneumothoraces", + "main body axis", + "abnormally decreased number of hematopoietic cell", + "serous membrane", + "abnormal biological_process in independent continuant", + "Unusual infection", + "Metazoa", + "Abnormality of the immune system", + "multi-tissue structure", + "Recurrent infections", + "abnormal blood cell", + "abnormal response to stress", + "subdivision of trunk", + "Abnormal respiratory system morphology", + "Abnormality of the respiratory system", + "abnormal number of anatomical enitites of type hematopoietic cell", + "Recurrent lower respiratory tract infections", + "endoderm-derived structure", + "pair of lungs", + "blood cell", + "respiration organ", + "abnormal immune system", + "thoracic segment of trunk", + "thoracic segment organ", + "anatomical collection", + "trunk region element", + "body proper", + "abnormal respiratory system", + "Abnormality of multiple cell lineages in the bone marrow", + "abnormal number of anatomical enitites of type anatomical entity", + "serous sac", + "abnormality of respiratory system physiology", + "cellular organisms", + "Opisthokonta", + "Respiratory tract infection", + "All", + "abnormal lung morphology", + "tube", + "Pneumothorax", + "respiratory tract", + "organism subdivision", + "respiratory airway", + "thoracic cavity element", + "subdivision of organism along main body axis", + "lung", + "abnormal number of anatomical enitites of type myeloid cell", + "mixed endoderm/mesoderm-derived structure", + "lower respiratory tract", + "anatomical wall", + "process", + "pleura", + "abnormality of anatomical entity physiology", + "abnormal pleura morphology", + "mesoderm-derived structure", + "abnormal bone marrow morphology", + ], + "has_phenotype_count": 5, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0001083", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome", + "full_name": None, + "deprecated": None, + "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.", + "xref": [ + "DOID:1062", + "GARD:9120", + "MESH:D005198", + "NANDO:2100027", + "NANDO:2200187", + "NCIT:C3034", + "SCTID:40488004", + "UMLS:C0015624", + ], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": [ + "De toni-Fanconi syndrome", + "De toni-debre-Fanconi syndrome", + "Fanconi syndrome", + "Fanconi's syndrome", + "Fanconi-de toni syndrome", + "Fanconi-de-toni syndrome", + "Lignac-Fanconi syndrome", + "adult Fanconi syndrome", + "congenital Fanconi syndrome", + "deToni Fanconi syndrome", + "infantile nephropathic cystinosis", + "toni-debre-Fanconi syndrome", + ], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": 0, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0060779", + "category": "biolink:Disease", + "name": "acquired Fanconi syndrome", + "full_name": None, + "deprecated": None, + "description": "Fanconi Syndrome caused by exposure to noxious agents.", + "xref": ["NCIT:C78296", "SCTID:236467001", "UMLS:C0341702"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": ["acquired Fanconi syndrome"], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": 0, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0007600", + "category": "biolink:Disease", + "name": "primary Fanconi syndrome", + "full_name": None, + "deprecated": None, + "description": "A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.", + "xref": ["GARD:9118", "NCIT:C123229", "Orphanet:3337"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": ["FRTS1", "Fanconi renotubular syndrome 1", "primary Fanconi renotubular syndrome"], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0002749", + "HP:0000117", + "HP:0001824", + "HP:0001324", + "HP:0004910", + "HP:0001510", + "HP:0003774", + "HP:0002150", + "HP:0001944", + "HP:0002206", + "HP:0001943", + "HP:0012622", + "HP:0012606", + "HP:0004912", + "HP:0003537", + "HP:0003234", + "HP:0003081", + "HP:0002900", + "HP:0002659", + "HP:0002653", + "HP:0002148", + "HP:0032943", + "HP:0004918", + "HP:0003646", + "HP:0003149", + "HP:0003126", + "HP:0003076", + "HP:0002909", + "HP:0002049", + ], + "has_phenotype_label": [ + "Osteomalacia", + "Renal phosphate wasting", + "Weight loss", + "Muscle weakness", + "Bicarbonate-wasting renal tubular acidosis", + "Growth delay", + "Stage 5 chronic kidney disease", + "Hypercalciuria", + "Dehydration", + "Pulmonary fibrosis", + "Hypoglycemia", + "Chronic kidney disease", + "Renal sodium wasting", + "Hypophosphatemic rickets", + "Hypouricemia", + "Decreased plasma carnitine", + "Increased urinary potassium", + "Hypokalemia", + "Increased susceptibility to fractures", + "Bone pain", + "Hypophosphatemia", + "Abnormal urine pH", + "Hyperchloremic metabolic acidosis", + "Bicarbonaturia", + "Hyperuricosuria", + "Low-molecular-weight proteinuria", + "Glycosuria", + "Generalized aminoaciduria", + "Proximal renal tubular acidosis", + ], + "has_phenotype_closure": [ + "UPHENO:0068495", + "UPHENO:0046286", + "UPHENO:0051930", + "UPHENO:0068091", + "HP:0031980", + "CHEBI:25806", + "HP:0032180", + "UPHENO:0004459", + "GO:0098771", + "CHEBI:50860", + "UPHENO:0001001", + "UPHENO:0081544", + "HP:0011015", + 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"CHEBI:35757", + "GO:0055062", + "UPHENO:0084542", + "GO:0009437", + "UPHENO:0068350", + "UPHENO:0051898", + "HP:0003081", + "UBERON:0000171", + "CHEBI:26216", + "UBERON:0004119", + "UPHENO:0051849", + "CHEBI:33296", + "UBERON:0001558", + "CHEBI:26217", + "CHEBI:37247", + "UPHENO:0051645", + "HP:0010929", + "UBERON:0000072", + "UPHENO:0051958", + "CHEBI:33504", + "HP:0002659", + "HP:0011279", + "HP:0025142", + "HP:0032943", + "HP:0001995", + "GO:0055080", + "HP:0004918", + "UPHENO:0001003", + "UPHENO:0068079", + "HP:0003646", + "HP:6000531", + "CHEBI:35604", + "HP:0011032", + "HP:0003110", + "UPHENO:0051659", + "UPHENO:0051619", + "UPHENO:0051714", + "HP:0003234", + "HP:0012610", + "UPHENO:0068024", + "UPHENO:0068247", + "CHEBI:32988", + "CHEBI:35552", + "CHEBI:15841", + "CHEBI:50047", + "UPHENO:0051801", + "UBERON:0001285", + "UPHENO:0068565", + "UPHENO:0080658", + "UPHENO:0049618", + "UPHENO:0068144", + "CHEBI:33709", + "UPHENO:0051670", + ], + "has_phenotype_closure_label": [ + "Proximal renal tubular acidosis", + "increased level of carboxylic acid in independent continuant", + "abnormal independent continuant amino acid level", + "abnormal mitochondrion", + "heteroorganic entity", + "abnormal metabolic process", + "excreta", + "organic oxo compound", + "molecular entity", + "abnormal homeostatic process", + "proximo-distal subdivision of respiratory tract", + "abnormal blood glucose level", + "Decreased plasma carnitine", + "abnormal chemical homeostasis", + "abnormal urine organic anion level", + "Abnormal blood glucose concentration", + "organonitrogen compound metabolic process", + "abnormal hematopoietic system", + "abnormal monocarboxylic acid metabolic process", + "thoracic cavity element", + "multicellular organism", + "respiratory airway", + "lung fibrosis", + "abnormal respiratory system", + "increased bodily fluid acid level", + "Bicarbonaturia", + "biological_process", + "increased bodily fluid role level", + "viscus", + "abnormal respiratory system morphology", + "monocarboxylic acid metabolic process", + "pair of lungs", + "regulation of biological quality", + "subdivision of tube", + "abnormality of multicellular organism mass", + "epithelial tube", + "abnormal anatomical entity morphology in the independent continuant", + "Abnormal lung morphology", + "oxygen molecular entity", + "organooxygen compound", + "Abnormality of fluid regulation", + "abnormal independent continuant phosphate level", + "Abnormality of the skeletal system", + "lung", + "Hypercalciuria", + "haemolymphatic fluid", + "abnormal role urine level", + "s-block element atom", + "metal atom", + "uric acid", + "Stage 5 chronic kidney disease", + "Abnormal urinary electrolyte concentration", + "mesoderm-derived structure", + "non-functional anatomical entity", + "thoracic segment organ", + "delayed biological_process", + "oxoacid", + "abnormal role bodily fluid level", + "aldose", + "increased level of glucose in independent continuant", + "abnormal regulation of body fluid levels", + "excretory tube", + "Abnormal pulmonary interstitial morphology", + "Renal tubular acidosis", + "abdomen element", + "respiratory tract", + "organism subdivision", + "increased level of chemical entity", + "organic substance metabolic process", + "Abnormal cellular physiology", + "inorganic cation", + "abnormal urine calcium atom level", + "thoracic segment of trunk", + "increased level of amino acid in independent continuant", + "abnormally decreased functionality of the anatomical entity", + "inorganic molecular entity", + "protein-containing material entity", + "abnormal skeletal system morphology", + "Proteinuria", + "lateral structure", + "abnormal lipid metabolic process", + "endoderm-derived structure", + "trunk region element", + "body proper", + "increased level of glucose in urine", + "purine", + "increased level of chemical entity in urine", + "increased level of chemical entity in bodily fluid", + "carboxylic acid metabolic process", + "organic aromatic compound", + "Renal tubular dysfunction", + "Abnormality of the respiratory system", + "Abnormality of the urinary system physiology", + "increased level of potassium atom in independent continuant", + "regulation of body fluid levels", + "abnormal blood chemical entity level", + "abnormal acid bodily fluid level", + "metabolic process", + "Decreased anatomical entity mass density", + "carbon group molecular entity", + "abnormal independent continuant chemical entity level", + "Weight loss", + "phosphorus oxoacid derivative", + "compound organ", + "kidney epithelium", + "Abnormal blood phosphate concentration", + "skeletal system", + "atom", + "genitourinary system", + "renal tubule", + "abnormality of anatomical entity mass", + "abnormality of respiratory system physiology", + "Decreased body weight", + "organ", + "occurrent", + "anatomical collection", + "polyatomic entity", + "abnormality of renal system physiology", + "monosaccharide", + "nucleobase-containing small molecule metabolic process", + "mancude organic heterobicyclic parent", + "respiratory system", + "abnormal sodium atom level", + "abnormal amino-acid betaine level", + "oxopurine", + "Decreased multicellular organism mass", + "abnormal independent continuant organic anion level", + "monoatomic entity", + "uriniferous tubule", + "abnormal upper urinary tract", + "abnormal cellular metabolic process", + "musculoskeletal system", + "carnitine", + "cytoplasm", + "Abnormality of urine homeostasis", + "organ system subdivision", + "Aminoaciduria", + "abnormal genitourinary system", + "Metabolic acidosis", + "blood", + "hydrides", + "increased level of potassium atom in urine", + "abdominal segment element", + "abnormal nitrogen compound metabolic process", + "Glycosuria", + "material entity", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "hematopoietic system", + "purines", + "abnormal purine nucleobase metabolic process", + "Abnormal respiratory system physiology", + "potassium molecular entity", + "Abnormal homeostasis", + "Abnormal muscle physiology", + "organochalcogen compound", + "Increased susceptibility to fractures", + "homeostatic process", + "abnormal carbohydrate metabolic process", + "p-block molecular entity", + "phosphorus oxoacids and derivatives", + "abnormal urine chemical entity level", + "monoatomic ion homeostasis", + "Abnormality of the musculoskeletal system", + "abnormal phosphate ion homeostasis", + "Abnormal renal physiology", + "abnormal skeletal system", + "nucleobase", + "increased level of carboxylic acid in urine", + "abnormal musculature", + "organ part", + "Muscle weakness", + "multicellular organismal process", + "abnormal blood phosphate level", + "obsolete cellular aromatic compound metabolic process", + "hemolymphoid system", + "hexose", + "multicellular anatomical structure", + "Pulmonary fibrosis", + "carbohydrate metabolic process", + "abnormal lung morphology", + "alkaline earth metal atom", + "Abnormal skeletal morphology", + "abnormal glucose homeostasis", + "decreased level of phosphate in independent continuant", + "anatomical entity", + "bone element", + "excretory system", + "tube", + "decreased level of phosphate in blood", + "abnormal phosphate level", + "decreased level of chemical entity", + "abnormal anatomical entity", + "abnormal growth", + "All", + "Abnormal bone structure", + "organic cyclic compound", + "Hyperchloremic acidosis", + "abnormally decreased functionality of the nephron tubule", + "Abnormal cellular phenotype", + "abnormal bone element mass density", + "abnormality of anatomical entity physiology", + "Phenotypic abnormality", + "Abnormal circulating lipid concentration", + "Osteomalacia", + "Abnormality of the musculature", + "decreased role independent continuant level", + "ossification", + "abnormal independent continuant calcium atom level", + "Abnormal circulating metabolite concentration", + "increased independent continuant role level", + "entity", + "cavitated compound organ", + "skeletal element", + "Decreased bone element mass density", + "abnormal phenotype by ontology source", + "pnictogen molecular entity", + "subdivision of trunk", + "abnormal chemical entity level", + "Abnormality of metabolism/homeostasis", + "tissue", + "continuant", + "Abnormal circulating nucleobase concentration", + "protein polypeptide chain", + "nephron", + "Hypoglycemia", + "decreased level of carnitine in independent continuant", + "Chronic kidney disease", + "material anatomical entity", + "muscle structure", + "carbohydrate", + "renal system", + "lipid", + "Bicarbonate-wasting renal tubular acidosis", + "organism substance", + "cellular anatomical entity", + "aldohexose", + "subdivision of organism along main body axis", + "phosphoric acid derivative", + "abnormal renal system", + "abnormal independent continuant monoatomic ion level", + "abnormal small molecule metabolic process", + "phosphate", + "abnormal multicellular organism chemical entity level", + "alkali metal cation", + "abnormal role independent continuant level", + "metal cation", + "abnormal independent continuant glucose level", + "process", + "trunk", + "Abnormality of the urinary system", + "Aciduria", + "epithelium", + "abnormality of kidney physiology", + "main group molecular entity", + "heteroatomic molecular entity", + "increased level of calcium atom in independent continuant", + "increased independent continuant acid level", + "Dehydration", + "polyatomic ion", + "Renal insufficiency", + "nephron epithelium", + "Abnormality of body weight", + "growth", + "heteropolycyclic compound", + "anatomical entity dysfunction in independent continuant", + "muscle organ", + "dipolar compound", + "Increased urinary potassium", + "ammonium betaine", + "increased level of uric acid in independent continuant", + "increased independent continuant base level", + "Abnormality of the upper urinary tract", + "Bone pain", + "decreased anatomical entity strength", + "abnormal calcium atom level", + "musculature of body", + "biological regulation", + "abdominal segment of trunk", + "anatomical conduit", + "phosphorus molecular entity", + "anatomical structure", + "organic ion", + "Abnormal circulating carbohydrate concentration", + "musculature", + "calcium atom", + "decreased role blood level", + "decreased muscle organ strength", + "bicyclic compound", + "cellular_component", + "abnormal monoatomic ion homeostasis", + "nephron tubule", + "hydrogen molecular entity", + "carbohydrate homeostasis", + "increased level of chemical entity in independent continuant", + "Abnormality of blood and blood-forming tissues", + "upper urinary tract", + "Abnormal respiratory system morphology", + "Acidosis", + "Abnormal glucose homeostasis", + "abnormal urine phosphate level", + "bodily fluid", + "decreased anatomical entity mass", + "abdomen", + "Abnormal circulating organic compound concentration", + "increased level of calcium atom in urine", + "abnormal carbohydrate homeostasis", + "Abnormal urine metabolite level", + "primary metabolic process", + "glucose homeostasis", + "carbohydrates and carbohydrate derivatives", + "organic acid", + "abnormal metabolite independent continuant level", + "abnormal primary metabolic process", + "abnormal independent continuant sodium atom level", + "Renal sodium wasting", + "delayed growth", + "decreased level of carnitine in blood", + "oxoacid derivative", + "Abnormal urine sodium concentration", + "lower respiratory tract", + "abnormal independent continuant nitrogen molecular entity level", + "sodium atom", + "alkali metal atom", + "Abnormal musculoskeletal physiology", + "Abnormal urine potassium concentration", + "Hypophosphatemic rickets", + "Decreased anatomical entity mass", + "inorganic ion homeostasis", + "abnormal blood monoatomic ion level", + "Azotemia", + "intracellular anatomical structure", + "decreased level of uric acid in independent continuant", + "decreased level of chemical entity in blood", + "elemental molecular entity", + "ion", + "fatty acid", + "Abnormality of urine calcium concentration", + "organic cyclic compound metabolic process", + "Hypophosphatemia", + "Renal phosphate wasting", + "Abnormal circulating monocarboxylic acid concentration", + "decreased level of chemical entity in independent continuant", + "Abnormality of mitochondrial metabolism", + "phosphate ion homeostasis", + "Abnormal blood ion concentration", + "increased level of chemical entity in blood", + "Abnormal urine phosphate concentration", + "organic hydride", + "Abnormality of urinary uric acid level", + "aromatic compound", + "nitrogen molecular entity", + "polycyclic compound", + "s-block molecular entity", + "abnormal nucleobase metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "obsolete heterocycle metabolic process", + "small molecule metabolic process", + "nucleobase-containing compound metabolic process", + "Abnormal circulating purine concentration", + "Abnormal urine protein level", + "abnormal cellular process", + "Abnormal circulating carnitine concentration", + "mancude ring", + "elemental potassium", + "cellular process", + "amino-acid betaine", + "increased level of organic acid in urine", + "Hypouricemia", + "Decreased circulating purine concentration", + "anatomical system", + "mitochondrion", + "abnormal independent continuant carnitine level", + "Hypokalemia", + "Abnormality of the genitourinary system", + "organic heterocyclic compound", + "heterobicyclic compound", + "increased level of purines in independent continuant", + "organonitrogen compound", + "abnormal independent continuant potassium(1+) level", + "respiration organ", + "abnormality of muscle organ physiology", + "organic molecule", + "cyclic compound", + "mancude organic heterocyclic parent", + "abnormal independent continuant uric acid level", + "abnormal blood carnitine level", + "cellular metabolic process", + "obsolete nitrogen compound metabolic process", + "phenotype", + "decreased level of potassium atom in independent continuant", + "nucleobase metabolic process", + "main group element atom", + "molecule", + "abnormal biological_process", + "kidney", + "Growth delay", + "organic mancude parent", + "heteroarene", + "organic molecular entity", + "abnormal anatomical entity mass density", + "increased level of organic molecular entity in independent continuant", + "organic heteropolycyclic compound", + "organonitrogen heterocyclic compound", + "non-functional kidney", + "heterocyclic organic fundamental parent", + "chemical entity", + "Abnormal circulating carboxylic acid concentration", + "Reduced bone mineral density", + "abnormal blood nitrogen molecular entity level", + "Abnormality of the kidney", + "abnormal independent continuant carbohydrate level", + "decreased level of purines", + "cation", + "purine nucleobase metabolic process", + "amino acid", + "decreased level of uric acid in blood", + "decreased multicellular organism mass", + "abnormal blood uric acid level", + "phenotype by ontology source", + "oxoanion", + "carboxylic acid anion", + "monocarboxylic acid", + "cellular lipid metabolic process", + "cellular modified amino acid metabolic process", + "organic fundamental parent", + "organic acid metabolic process", + "lipid metabolic process", + "abnormal cell", + "heterocyclic compound", + "Abnormal circulating fatty-acid anion concentration", + "abnormal fatty acid metabolic process", + "abnormal cellular_component", + "abnormal role blood level", + "organelle", + "abnormal carboxylic acid metabolic process", + "zwitterion", + "carbonyl compound", + "monocarboxylic acid anion", + "purine-containing compound metabolic process", + "carbon oxoacid", + "obsolete cell", + "Abnormal blood potassium concentration", + "Abnormal circulating nitrogen compound concentration", + "intracellular membrane-bounded organelle", + "oxide", + "polyatomic anion", + "glucose", + "fatty acid anion", + "organic anion", + "hydroxides", + "fatty acid metabolic process", + "organic heterobicyclic compound", + "Abnormality of bone mineral density", + "hydrogencarbonate", + "oxoacid metabolic process", + "abnormal urine sodium atom level", + "carboxamide", + "Generalized aminoaciduria", + "amino-acid betaine metabolic process", + "intracellular organelle", + "membrane-bounded organelle", + "anion", + "quality", + "abnormal amino acid derivative level", + "carboxylic acid", + "onium betaine", + "Abnormal urine carboxylic acid level", + "Abnormal circulating fatty-acid concentration", + "Abnormality of acid-base homeostasis", + "urine", + "quaternary nitrogen compound", + "increased level of monosaccharide in independent continuant", + "Hyperchloremic metabolic acidosis", + "amino acid derivative", + "abnormal carnitine metabolic process", + "decreased level of amino-acid betaine", + "Abnormality of the mitochondrion", + "primary amide", + "carnitine metabolic process", + "cell", + "Abnormal bone ossification", + "abnormal urine potassium atom level", + "chalcogen molecular entity", + "abnormal potassium atom level", + "abnormal independent continuant potassium atom level", + "chemical homeostasis", + "main body axis", + "potassium atom", + "monovalent inorganic cation", + "monoatomic monocation", + "abnormal urine hydrogencarbonate level", + "alkali metal molecular entity", + "abnormal kidney", + "Abnormal blood cation concentration", + "abnormal blood potassium atom level", + "increased level of nitrogen molecular entity in blood", + "abnormal monoatomic cation homeostasis", + "abnormal blood potassium(1+) level", + "polypeptide", + "decreased level of potassium atom in blood", + "potassium(1+)", + "monoatomic cation", + "Abnormal blood monovalent inorganic cation concentration", + "monoatomic cation homeostasis", + "inorganic ion", + "Growth abnormality", + "abnormality of musculoskeletal system physiology", + "abnormal independent continuant carboxylic acid level", + "carbon oxoanion", + "Constitutional symptom", + "anatomical entity fibrosis", + "Pain", + "independent continuant", + "Abnormal urine pH", + "abnormal independent continuant hydrogencarbonate level", + "Abnormality of urine bicarbonate level", + "imidazopyrimidine", + "increased level of hydrogencarbonate in independent continuant", + "increased level of hydrogencarbonate in urine", + "abnormal hydrogencarbonate level", + "Abnormal urinary organic compound level", + "Rickets", + "increased level of nitrogen molecular entity in independent continuant", + "abnormal urine uric acid level", + "Hyperuricosuria", + "increased level of amino acid in urine", + "increased level of uric acid in urine", + "peptide", + "increased level of protein polypeptide chain in independent continuant", + "amide", + "Low-molecular-weight proteinuria", + "abnormal independent continuant protein polypeptide chain level", + "increased level of protein polypeptide chain in urine", + "macromolecule", + "abnormal acid independent continuant level", + "organic amino compound", + "abnormal urine glucose level", + "increased level of monosaccharide in urine", + "increased level of organic acid in independent continuant", + "Elevated urinary carboxylic acid", + "monoatomic ion", + "abnormal urine amino acid level", + "Organic aciduria", + "abnormal amino acid level", + ], + "has_phenotype_count": 29, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0013247", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 2", + "full_name": None, + "deprecated": None, + "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.", + "xref": ["DOID:0080758", "GARD:15655", "OMIM:613388", "UMLS:C3150652"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": [ + "FRTS2", + "Fanconi renotubular syndrome 2", + "Fanconi renotubular syndrome type 2", + "Fanconi syndrome caused by mutation in SLC34A1", + "SLC34A1 Fanconi syndrome", + ], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0002749", + "HP:0000117", + "HP:0002148", + "HP:0000114", + "HP:0002757", + "HP:0002748", + "HP:0000938", + "HP:0002909", + "HP:0031415", + "HP:0000093", + "HP:0003076", + "HP:0003165", + "HP:0004322", + "HP:0002653", + "HP:0012213", + "HP:0000083", + "HP:0002150", + ], + "has_phenotype_label": [ + "Osteomalacia", + "Renal phosphate wasting", + "Hypophosphatemia", + "Proximal tubulopathy", + "Recurrent fractures", + "Rickets", + "Osteopenia", + "Generalized aminoaciduria", + "High serum calcitriol", + "Proteinuria", + "Glycosuria", + "Elevated circulating parathyroid hormone level", + "Short stature", + "Bone pain", + "Decreased glomerular filtration rate", + "Renal insufficiency", + "Hypercalciuria", + ], + "has_phenotype_closure": [ + "HP:0002150", + "UPHENO:0051678", + "UPHENO:0068134", + "UPHENO:0046344", + "HP:0011280", + "HP:0025142", + "GO:0040007", + "HP:0004322", "UPHENO:0081424", - "UPHENO:0074572", - "UBERON:8450002", - "UPHENO:0087427", - "UBERON:0011138", - "UPHENO:0026181", - "HP:0001874", - "BFO:0000003", - "UPHENO:0076675", - "UBERON:0002616", - "HP:0008373", - "HP:0011121", - "UPHENO:0068971", - "UBERON:0003103", - "UBERON:0004375", - "HP:0012130", - "UBERON:0005881", - "HP:0001000", - "HP:0011893", - "UPHENO:0086176", - "UBERON:0005173", - "UBERON:0002417", - "HP:0006496", - "HP:0012372", - "HP:0005927", - "UBERON:0002100", - "HP:0000549", - "UPHENO:0076791", - "UBERON:0001893", - "UBERON:0000916", - "GO:0032501", - "UBERON:0005451", - "HP:0100542", - "NBO:0000313", - "UBERON:0004535", - "HP:0000119", - "UPHENO:0041226", - "UPHENO:0046707", - "UPHENO:0002635", - "UPHENO:0026506", - "UBERON:5006048", - "UBERON:0012357", - "UBERON:0001008", - "HP:0011025", - "HP:0009943", - "UBERON:0002390", - "UBERON:0034923", - "UPHENO:0079876", - "UPHENO:0002844", - "UPHENO:0085405", - "UPHENO:0050620", - "UBERON:0004122", - "HP:0000001", - "UPHENO:0075902", - "UBERON:0011216", - "UBERON:0000062", - "UPHENO:0002903", - "UPHENO:0076727", - "UPHENO:0002332", - "HP:0002813", - "UBERON:0015061", - "GO:0008150", - "HP:0040068", - "UPHENO:0087907", - "GO:0071824", - "UPHENO:0002642", - "HP:0100543", - "HP:0001249", - "UBERON:0000075", - "UPHENO:0084447", + "UPHENO:0086132", + "UPHENO:0075195", "UPHENO:0049874", - "PATO:0000001", - "HP:0009825", - "UPHENO:0015280", - "UPHENO:0000543", - "UPHENO:0050116", - "UBERON:0002471", - "UPHENO:0076718", - "UBERON:0010323", - "UPHENO:0002219", - "NCBITaxon:131567", - "UPHENO:0087123", - "UPHENO:0085042", - "UPHENO:0085354", - "UPHENO:0081423", - "HP:0001909", - "UPHENO:0003020", - "UBERON:0010712", - "GO:0022403", - "UPHENO:0085118", - "NCBITaxon:6072", - "GO:0050794", - "HP:0000104", - "GO:0050890", - "HP:0000486", - "UPHENO:0004459", - "HP:0001903", - "UPHENO:0076779", - "UBERON:0003133", - "UBERON:0001016", - "HP:0005922", - "GO:0050877", - "HP:0000081", - "HP:0000271", - "UPHENO:0085371", - "UBERON:0006058", - "GO:0009889", - "CL:0000219", - "UPHENO:0087355", - "UPHENO:0084928", - "UBERON:0002193", - "HP:0032309", - "UPHENO:0086019", - "UBERON:0001017", - "HP:0031704", - "UPHENO:0085189", - "UBERON:0002101", - "UPHENO:0049952", - "UBERON:0009569", - "UBERON:0007798", - "UPHENO:0077426", - "HP:0032251", - "UBERON:0002204", - "UBERON:0011143", - "UBERON:0013701", - "HP:0010987", - "UPHENO:0086045", - "UPHENO:0002406", - "BFO:0000001", - "UPHENO:0060026", - "HP:0000118", - "UBERON:0001690", - "UPHENO:0063722", - "HP:0011297", - "UPHENO:0075696", - "UPHENO:0076692", - "HP:0000085", - "UBERON:0019221", - "HP:0000135", - "UPHENO:0087472", - "BFO:0000020", - "HP:0003213", - "HP:0002715", - "HP:0010974", - "HP:0009142", - "UPHENO:0001002", - "CL:0000775", - "UBERON:0001442", - "UPHENO:0002803", - "HP:0009822", - "UBERON:0010538", - "CL:0000233", - "HP:0000028", - "UBERON:0015212", - "CL:0000738", - "UPHENO:0035025", - "HP:0025354", - "UPHENO:0006910", - "UBERON:0000970", - "UPHENO:0088338", - "UBERON:0004120", - "UPHENO:0001001", - "UPHENO:0088176", - "CL:0002422", - "UBERON:0001062", - "UPHENO:0082444", - "UPHENO:0054261", - "UPHENO:0086016", - "HP:0000978", - "UBERON:0002405", "UPHENO:0020584", - "NBO:0000444", - "HP:0009777", - "HP:0001939", - "CL:0000763", - "UPHENO:0086005", - "HP:0000707", - "HP:0001911", - "UPHENO:0059829", - "UPHENO:0087802", - "UBERON:0000489", - "UBERON:0000153", - "UPHENO:0084761", - "UPHENO:0052178", - "NCBITaxon:2759", + "UPHENO:0069254", + "UPHENO:0000541", + "UPHENO:0075159", + "HP:0001510", + "UPHENO:0068174", + "UPHENO:0082943", + "HP:0002152", + "PR:000000001", + "CHEBI:33694", + "PR:000064867", + "UPHENO:0051648", + "HP:0004360", + "UPHENO:0068442", + "UPHENO:0051936", + "HP:0001948", + "HP:0012337", + "UPHENO:0077826", + "UPHENO:0068971", + "CHEBI:33695", + "UPHENO:0068104", + "UPHENO:0082536", + "UPHENO:0068472", + "UPHENO:0068068", + "UPHENO:0051741", + "UBERON:0001969", + "UPHENO:0068477", + "UPHENO:0081550", + "PR:000018263", + "UPHENO:0080658", + "HP:0012212", + "UBERON:0001977", + "UPHENO:0051635", + "UPHENO:0068054", + "UPHENO:0052116", + "HP:6000531", + "CHEBI:17234", + "CHEBI:33917", + "HP:0010876", + "CHEBI:35381", + "CHEBI:18133", + "UPHENO:0068565", + "UPHENO:0051801", + "CHEBI:15841", + "CHEBI:32988", + "CHEBI:16541", + "UPHENO:0068247", + "CHEBI:16670", + "UPHENO:0048763", + "UPHENO:0082539", + "CHEBI:26191", + "CHEBI:35350", + "CHEBI:22313", + "CHEBI:51958", + "UPHENO:0076293", + "UPHENO:0079534", + "CHEBI:37622", + "GO:0006775", + "GO:0008202", + "UBERON:0034923", + "UPHENO:0080351", + "UPHENO:0076286", + "HP:0031415", + "UPHENO:0050116", + "UPHENO:0051628", + "UPHENO:0068047", + "HP:0000818", + "CHEBI:18059", + "UBERON:0001231", + "UBERON:0000064", + "CHEBI:24870", + "UPHENO:0034217", + "UPHENO:0051960", + "GO:0048878", + "UPHENO:0066739", + "UPHENO:0075902", + "UPHENO:0080352", + "UBERON:0000179", + "CHEBI:27136", + "BFO:0000004", + "HP:0012531", + "GO:0050801", + "HP:0000083", + "GO:0032501", + "GO:1901360", + "UPHENO:0050080", + "HP:0002148", + "UPHENO:0051630", + "UPHENO:0034253", "UBERON:0000468", - "UBERON:0010741", - "HP:0000815", - "CL:0000094", - "HP:0011314", - "UPHENO:0085984", + "HP:0000093", + "GO:0055062", + "UBERON:0002417", + "HP:0012213", + "PR:000050567", + "BFO:0000003", + "HP:0004364", + "UPHENO:0078628", + "UPHENO:0078589", + "UPHENO:0002442", + "PATO:0000001", + "HP:0000079", "HP:0001507", + "CHEBI:37577", + "HP:0012591", + "UPHENO:0004459", + "GO:0098771", + "HP:0011277", + "GO:0071704", + "CHEBI:33675", + "BFO:0000020", + "HP:0430071", + "CHEBI:24867", + "CHEBI:33256", + "UBERON:0000025", + "HP:0003110", + "CHEBI:36359", + "UPHENO:0082542", + "HP:0000119", + "UPHENO:0080638", + "UPHENO:0002964", + "UPHENO:0051712", + "UPHENO:0086128", + "CHEBI:33595", + "UPHENO:0049587", + "GO:0008152", + "HP:0003077", + "UPHENO:0046284", + "UBERON:0003103", + "UPHENO:0068110", "HP:0001871", - "UBERON:5106048", - "UBERON:0001463", - "GO:0043170", - "UPHENO:0002433", + "UPHENO:0082835", + "UPHENO:0068040", + "UPHENO:0080643", + "UBERON:0011216", + "UPHENO:0082875", + "UBERON:0001474", + "UBERON:0002100", + "HP:0000118", + "UBERON:0001434", + "HP:0001939", + "CHEBI:26082", + "CHEBI:17823", + "CHEBI:23367", + "UPHENO:0012541", + "CHEBI:36360", + "UPHENO:0068491", + "CHEBI:36357", + "UPHENO:0077821", + "UPHENO:0002536", + "UPHENO:0076692", + "UPHENO:0051186", + "CHEBI:36963", + "UBERON:0011676", + "UPHENO:0002332", + "UPHENO:0078554", + "CHEBI:33635", "UBERON:0000061", - "UBERON:0015203", - "UBERON:0007100", - "UPHENO:0085330", - "UPHENO:0085344", - "UBERON:0002389", - "GO:0009892", - "UPHENO:0088335", - "UPHENO:0086201", - "UBERON:0002513", - "GO:0050896", - "UBERON:0000475", + "CHEBI:33839", + "CHEBI:26079", + "HP:0011849", + "UPHENO:0048707", + "HP:0100529", + "CHEBI:35352", + "UPHENO:0051686", + "UPHENO:0001005", + "BFO:0000002", + "UPHENO:0084653", + "CHEBI:73558", + "UBERON:8450002", + "UPHENO:0068169", + "HP:0032369", + "CHEBI:33302", + "UBERON:0001062", + "GO:0001503", + "UPHENO:0084654", + "UPHENO:0034351", + "UBERON:0002193", + "CHEBI:33241", + "HP:0002653", + "UPHENO:0076703", + "CHEBI:33259", + "UPHENO:0049618", + "UPHENO:0015280", + "UPHENO:0081548", + "UBERON:0004120", + "UPHENO:0068538", + "CHEBI:35341", + "BFO:0000001", + "UPHENO:0003116", + "UPHENO:0051804", + "UPHENO:0049904", + "UPHENO:0046362", + "UPHENO:0046291", + "CHEBI:33250", + "UBERON:0002113", + "HP:0000117", + "UPHENO:0051937", + "CHEBI:33709", + "CHEBI:35605", + "GO:0042359", + "UPHENO:0082834", + "HP:0033405", + "BFO:0000040", + "HP:0004349", + "UBERON:0001088", + "GO:0044281", + "UPHENO:0082534", + "HP:0002749", + "HP:0004348", + "HP:0000001", + "UBERON:0004111", + "UBERON:0000489", + "UPHENO:0082538", + "GO:0042592", + "CHEBI:36080", + "UBERON:0006314", + "HP:0000114", + "UPHENO:0068495", + "HP:0032180", + "UPHENO:0068091", + "CHEBI:33318", + "CHEBI:24431", + "HP:0003111", + "BFO:0000015", + "UPHENO:0049628", + "CHEBI:33238", + "CHEBI:35788", + "UPHENO:0080659", + "CHEBI:33579", + "UPHENO:0051668", + "UBERON:0000174", + "HP:0000924", + "UBERON:0013702", + "CHEBI:33304", + "HP:0003330", + "HP:0012599", + "UPHENO:0075696", + "HP:0011842", + "HP:0033127", + "UPHENO:0001003", + "HP:0100530", + "UPHENO:0034391", + "UPHENO:0068049", + "CHEBI:51143", + "UPHENO:0051640", + "UPHENO:0081546", "UBERON:0000467", - "UBERON:0015204", + "UBERON:0004765", + "UBERON:0000949", + "UBERON:0000062", + "HP:0003119", + "HP:0020129", + "UPHENO:0046348", + "UPHENO:0066927", + "CHEBI:15693", + "UPHENO:0081544", + "UPHENO:0051763", + "GO:0008150", + "UPHENO:0068064", + "CHEBI:72695", + "HP:0003165", + "UBERON:0001285", + "UBERON:0013701", + "UBERON:0009569", + "CHEBI:24651", + "UBERON:0000483", + "UBERON:0000479", + "CHEBI:33832", + "UBERON:0000475", + "HP:0012211", + "UPHENO:0076285", + "UBERON:0015212", + "UPHENO:0002411", + "UPHENO:0051864", + "CHEBI:78616", + "HP:0000077", + "UBERON:0002390", + "HP:0003117", + "HP:0001992", + "UPHENO:0051709", + "UBERON:0010000", + "UPHENO:0066943", + "UBERON:0004211", + "UBERON:0007684", + "UBERON:0009773", + "UBERON:0004122", + "HP:0010935", + "HP:0033331", + "UBERON:0006555", + "UPHENO:0052038", + "UBERON:0005172", + "CHEBI:16646", + "HP:0000124", + "UBERON:0000916", + "UPHENO:0068533", + "CHEBI:47042", + "UBERON:0005173", + "UPHENO:0051847", + "UBERON:0005177", + "UBERON:0011143", "UPHENO:0024906", - "HP:0002818", - "HP:0012759", - "UBERON:0006048", - "GO:0008152", - "UBERON:0000073", - "HP:0003221", - "BFO:0000004", - "UBERON:0000047", - "UPHENO:0026023", - "HP:0000929", - "UPHENO:0085068", - "GO:0043473", - "BFO:0000040", - "CL:0000081", - "UBERON:0019231", - "GO:0031323", - "UPHENO:0086002", - "UBERON:0011249", - "UPHENO:0085076", - "UPHENO:0080099", - "HP:0000953", - "UPHENO:0087089", - "HP:0000032", - "UBERON:0004288", - "UBERON:0012354", - "UPHENO:0088162", - "UPHENO:0005597", - "UPHENO:0002378", - "UPHENO:0082875", - "UPHENO:0076723", - "UBERON:0005156", - "UPHENO:0085195", - "CL:0000000", + "CHEBI:36853", + "UBERON:0004819", + "HP:0002659", + "HP:0032245", + "HP:0002757", + "UBERON:0002204", + "UPHENO:0081440", + "HP:0032943", + "PR:000013429", + "HP:0100508", + "HP:0011843", + "UPHENO:0002832", + "UPHENO:0002803", + "HP:0002748", + "HP:0000938", + "UPHENO:0049723", + "UPHENO:0068144", + "CHEBI:33608", + "UPHENO:0046286", + "UPHENO:0001002", + "HP:0100511", + "UPHENO:0082540", "UBERON:0000465", - "HP:0003220", - "UBERON:0000026", + "CHEBI:33582", + "UPHENO:0081423", + "UBERON:0015203", + "UPHENO:0002642", + "HP:0002909", + "HP:0012072", + "UPHENO:0076287", + "UPHENO:0046281", + "CHEBI:25806", + "UPHENO:0051670", + "HP:0031980", + "CHEBI:50860", + "CHEBI:22984", "UBERON:0000463", - "CL:0000225", - "UPHENO:0001003", - ], - "has_phenotype_closure_label": [ - "abnormal shape of continuant", - "concave 3-D shape anatomical entity", - "Horseshoe kidney", - "3-D shape anatomical entity", - "shape anatomical entity in independent continuant", - "abnormal DNA damage response", - "DNA damage response", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "cellular response to stimulus", - "Abnormality of DNA repair", - "decreased sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "Abnormal ear physiology", - "Abnormality of the ear", - "abnormality of ear physiology", - "abnormal DNA repair", - "Hearing abnormality", - "non-material anatomical boundary", - "abnormal behavior", - "response to stimulus", - "eye movement", - "anatomical line", - "abnormal response to stimulus", - "Abnormality of eye movement", - "Abnormal eye physiology", - "abnormality of camera-type eye physiology", - "abnormal behavior process", - "abnormal size of multicellular organism", - "decreased height of the anatomical entity", - "decreased size of the multicellular organism", - "abnormality of anatomical entity height", - "delayed growth", - "Growth delay", - "Abnormality of body height", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "ear", - "Neoplasm by anatomical site", - "delayed biological_process", - "Irregular hyperpigmentation", - "Hypermelanotic macule", - "abnormal response to stress", - "Cafe-au-lait spot", - "Localized skin lesion", - "Strabismus", - "circulatory organ", - "thoracic segment organ", - "heart plus pericardium", - "Abnormality of cardiovascular system morphology", - "primary circulatory organ", - "vasculature", - "cardiovascular system", - "Internal hemorrhage", - "thoracic segment of trunk", - "vascular system", - "abnormality of cardiovascular system physiology", - "Abnormality of the vasculature", - "Abnormal cardiovascular system physiology", - "abnormal cardiovascular system", - "circulatory system process", - "Complete duplication of phalanx of hand", - "Duplication of hand bones", - "manual digit digitopodial skeleton", - "skeleton of manual acropodium", - "Abnormal long bone morphology", - "Abnormality of thumb phalanx", - "Abnormal finger phalanx morphology", - "sensory perception of sound", - "abnormal phalanx of manus morphology", - "phalanx", - "digitopodium bone", - "U-shaped anatomical entity", - "manual digit 1 phalanx endochondral element", - "Duplication of phalanx of hand", - "individual digit of digitopodial skeleton", - "Duplication of thumb phalanx", - "biological regulation", - "abnormal primary metabolic process", - "Leukemia", - "Chromosomal breakage induced by crosslinking agents", - "organic substance metabolic process", - "regulation of cellular process", - "regulation of metabolic process", - "Vascular skin abnormality", - "negative regulation of biological process", - "Generalized abnormality of skin", - "nucleobase-containing compound metabolic process", - "organic cyclic compound metabolic process", - "obsolete heterocycle metabolic process", - "immaterial entity", - "obsolete cellular aromatic compound metabolic process", - "obsolete cellular nitrogen compound metabolic process", - "response to stress", - "cellular component organization", - "regulation of biosynthetic process", - "regulation of cellular metabolic process", - "negative regulation of cellular process", - "organelle organization", - "regulation of gene expression", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "programmed DNA elimination", - "cellular metabolic process", - "negative regulation of gene expression", - "Chromosome breakage", - "regulation of cellular biosynthetic process", - "negative regulation of biosynthetic process", - "negative regulation of macromolecule metabolic process", - "negative regulation of cellular metabolic process", - "DNA metabolic process", - "decreased multicellular organism mass", - "growth", - "Hearing impairment", - "Decreased body weight", - "Small for gestational age", - "Decreased multicellular organism mass", - "visual system", - "manual digit 1 phalanx", - "chromatin organization", - "sensory system", - "eye", - "face", - "orbital region", - "Aplasia/Hypoplasia affecting the eye", - "Microphthalmia", - "subdivision of head", - "entire sense organ system", - "camera-type eye", - "negative regulation of metabolic process", - "abnormal camera-type eye morphology", - "Abnormality of globe size", - "Abnormality of the eye", - "primary metabolic process", - "abnormal enucleated reticulocyte morphology", - "abnormal vasculature", - "Abnormal reticulocyte morphology", - "Complete duplication of thumb phalanx", - "abnormal number of anatomical enitites of type reticulocyte", - "anatomical line between pupils", - "abnormally decreased number of reticulocyte", - "Short finger", - "decreased size of the anatomical entity in the pectoral complex", - "Neurodevelopmental delay", + "CHEBI:26020", + "HP:0040156", + "CHEBI:36587", + "UPHENO:0068384", + "UBERON:0001008", + "CHEBI:24833", + "HP:0003355", + "CHEBI:33559", + "UPHENO:0051930", + "UPHENO:0051900", + "UPHENO:0051739", + "CHEBI:36962", + "CHEBI:33285", + "CHEBI:25367", + "UBERON:0003914", + "UPHENO:0079536", + "CHEBI:64709", + "HP:0000002", + "HP:0002157", + "HP:0033354", + "UPHENO:0051612", + "UPHENO:0068089", + "UPHENO:0068058", + "UPHENO:0068313", + "CHEBI:33674", + "UPHENO:0076289", + "CHEBI:33575", + "CHEBI:50047", + "CHEBI:33521", + "UPHENO:0082541", + "CHEBI:36586", + "UPHENO:0068102", + "UPHENO:0000543", + "HP:0003076", + "CHEBI:27300", + "UPHENO:0048711", + "UPHENO:0049873", + "UPHENO:0001001", + "GO:0044238", + "UPHENO:0068251", + "GO:0006629", + "GO:1901615", + "UBERON:0000178", + "GO:0006766", + "UPHENO:0051680", + "UBERON:0015204", + "CHEBI:33822", + "UPHENO:0081547", + ], + "has_phenotype_closure_label": [ + "Hypercalciuria", + "alkaline earth metal atom", + "atom", + "s-block element atom", + "main group element atom", + "Abnormality of urine calcium concentration", + "increased level of calcium atom in independent continuant", + "abnormal calcium atom level", + "Renal insufficiency", + "non-functional kidney", + "Decreased glomerular filtration rate", + "Abnormal glomerular filtration rate", + "Pain", + "Constitutional symptom", + "growth", + "Growth delay", + "Abnormality of body height", + "abnormal urine calcium atom level", "decreased size of the anatomical entity in the independent continuant", - "decreased length of manual digit", - "sensory perception", - "decreased length of anatomical entity", - "decreased length of manual digit 1", - "Short digit", - "autopod endochondral element", - "autopod bone", - "phalanx of manus", - "decreased length of anatomical entity in independent continuant", - "decreased length of digit", - "decreased size of the anatomical entity", - "aplastic forelimb zeugopod bone", - "absent forelimb zeugopod bone", - "sensory perception of mechanical stimulus", - "Aplasia involving forearm bones", - "abnormal limb long bone morphology", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "abnormal forelimb zeugopod bone", - "body part movement", - "absent radius bone in the forelimb", - "manual digit 1 digitopodial skeleton", - "abnormal forelimb zeugopod morphology", - "abnormal long bone morphology", - "Abnormal forearm bone morphology", - "behavior process", - "Aplasia/hypoplasia involving forearm bones", - "absent radius bone in the independent continuant", - "absent radius bone", - "zeugopod", - "macromolecule metabolic process", - "bone of pectoral complex", - "Atypical behavior", - "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "abnormal bone of pectoral complex morphology", - "Abnormal upper limb bone morphology", - "arm bone", - "forelimb long bone", - "radius bone", - "Aplasia involving bones of the extremities", - "long bone", - "Absent forearm bone", - "abnormal number of anatomical enitites of type sperm", - "abnormality of male reproductive system physiology", - "gamete", - "semen", - "developmental process", - "reproduction", - "Abnormal internal genitalia", - "Abnormal testis morphology", - "developmental process involved in reproduction", - "multicellular organismal reproductive process", - "abnormal reproductive process", - "decreased qualitatively developmental process", - "absent anatomical entity in the semen", - "gamete generation", - "abnormal male reproductive system morphology", - "spermatogenesis", - "absent sperm", - "zeugopodial skeleton", - "male gamete generation", - "abnormally localised testis", - "Global developmental delay", - "abnormal multicellular organismal reproductive process", - "absent gamete", - "manual digit bone", - "decreased spermatogenesis", - "abnormal male reproductive system", - "decreased qualitatively sensory perception of sound", - "absent sperm in the semen", - "obsolete multicellular organism reproduction", - "Azoospermia", - "Abnormality of the male genitalia", - "sperm", - "external genitalia", - "anatomical cluster", - "internal genitalia", - "abnormal reproductive system morphology", - "decreased qualitatively biological_process", - "Abnormal spermatogenesis", - "vestibulo-auditory system", - "forelimb endochondral element", - "absent germ cell", - "abnormal internal genitalia", - "external male genitalia", - "abnormal external male genitalia", - "decreased qualitatively reproductive process", - "decreased developmental process", - "abnormal developmental process", - "abnormality of internal male genitalia physiology", - "abnormal gamete generation", - "abnormal heart morphology", - "abnormal external genitalia", - "abnormal developmental process involved in reproduction", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "abnormal orbital region", - "bone marrow cell", - "obsolete nitrogen compound metabolic process", - "platelet", - "biogenic amine secreting cell", - "Short thumb", - "germ line cell", - "bone cell", - "sexual reproduction", - "anucleate cell", - "abnormal male reproductive organ morphology", - "bone marrow", - "secretory cell", - "manual digit phalanx endochondral element", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", - "abnormal bone marrow cell morphology", - "Abnormality of bone marrow cell morphology", - "decreased biological_process", - "serotonin secreting cell", - "forelimb bone", - "Abnormality of thrombocytes", - "abnormal platelet", - "Anemia", - "tissue", - "abnormal erythroid lineage cell morphology", - "nucleic acid metabolic process", - "Absent radius", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "absent kidney in the renal system", - "absent kidney", - "abnormal DNA metabolic process", - "abnormal chromatin organization", - "forelimb", - "abnormal anatomical entity morphology in the skeleton of manus", - "autopodial skeleton", - "abnormal blood circulation", - "Abnormal morphology of the radius", - "bone of free limb or fin", - "abnormal anatomical entity", - "motile cell", - "paired limb/fin", - "abnormal anatomical entity morphology in the manus", - "pectoral appendage", - "abnormal anatomical entity morphology in the pectoral complex", - "central nervous system", - "absent anatomical entity", - "abnormal manus", - "Finger aplasia", - "digitopodium region", - "multi-limb segment region", + "metal atom", + "abnormality of anatomical entity height", + "Growth abnormality", + "delayed growth", + "abnormal anatomical entity morphology in the independent continuant", + "decreased height of the multicellular organism", + "abnormal blood parathyroid hormone level", + "Hyperproteinemia", + "Abnormal circulating organic amino compound concentration", + "protein", + "increased level of parathyroid hormone in independent continuant", + "parathyroid hormone", + "blood plasma", + "increased level of calcium atom in urine", + "abnormal blood protein polypeptide chain level", + "Elevated circulating parathyroid hormone level", + "Abnormal circulating nitrogen compound concentration", + "increased level of protein in blood", + "Alkalosis", + "increased level of nitrogen molecular entity in blood", + "Abnormality of acid-base homeostasis", + "calcium atom", + "increased blood serum role level", + "increased level of chemical entity in blood serum", + "abnormal independent continuant protein level", + "abnormal role blood serum level", + "abnormal blood serum chemical entity level", + "abnormal acid bodily fluid level", + "increased level of protein", + "blood serum", + "Acute phase response", + "increased level of glucose in independent continuant", + "increased level of monosaccharide in urine", + "Abnormal urinary organic compound level", + "abnormal independent continuant glucose level", + "aldohexose", + "glucose", + "aldose", + "hexose", + "abnormal urine glucose level", + "abnormal independent continuant carbohydrate level", + "monosaccharide", + "macromolecule", + "increased level of protein polypeptide chain in urine", + "abnormal independent continuant protein polypeptide chain level", + "amide", + "increased level of protein polypeptide chain in independent continuant", + "peptide", + "Abnormal metabolism", + "decreased height of the anatomical entity", + "abnormal metabolite independent continuant level", + "hydroxy seco-steroid", + "vitamin D metabolic process", + "steroid metabolic process", + "small molecule metabolic process", + "abnormal hormone independent continuant level", + "abnormal independent continuant calcium atom level", + "abnormal independent continuant parathyroid hormone level", + "abnormal vitamin metabolic process", + "steroid", + "cyclic compound", + "Abnormal circulating hormone concentration", + "abnormal role blood level", + "main body axis", + "organism substance", + "primary amide", + "elemental molecular entity", + "Hypophosphatemia", + "monoatomic ion", + "increased blood role level", + "Abnormality of vitamin D metabolism", + "abnormal homeostatic process", + "decreased level of chemical entity in blood", + "phenotype by ontology source", + "abnormal blood chemical entity level", + "monoatomic entity", + "abnormal acid independent continuant level", + "abnormal urine phosphate level", + "abdomen element", + "protein-containing molecular entity", + "Abnormal circulating organic compound concentration", + "increased level of vitamin D", + "abnormal blood plasma chemical entity level", + "inorganic ion homeostasis", + "Reduced bone mineral density", + "abnormal monoatomic ion homeostasis", + "Abnormality of metabolism/homeostasis", + "non-functional anatomical entity", + "Osteopenia", + "increased level of monosaccharide in independent continuant", + "D3 vitamins", + "chemical entity", + "polyol", + "increased independent continuant acid level", + "heteroatomic molecular entity", + "main group molecular entity", + "abnormality of kidney physiology", + "abnormal chemical homeostasis", + "abnormal independent continuant lipid level", + "phosphorus molecular entity", + "oxoacid derivative", "trunk", - "digit 1 plus metapodial segment", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "male reproductive system", - "abnormal cell morphology", - "limb bone", - "abnormal arm", - "Abnormality of skull size", - "Abnormal digit morphology", - "aplasia or hypoplasia of manual digit", - "absent anatomical entity in the skeletal system", - "Abnormal platelet count", - "abnormal forelimb morphology", - "autopodial extension", - "abnormal platelet morphology", - "Abnormality of reproductive system physiology", - "digit plus metapodial segment", - "erythrocyte", - "abnormal limb bone morphology", - "Aplasia/hypoplasia involving bones of the hand", - "G2 phase", - "manual digitopodium region", - "skeleton of digitopodium", - "skeleton of pectoral complex", - "abnormal appendicular skeleton morphology", - "Eumetazoa", - "segment of autopod", - "shape anatomical entity", - "Subcutaneous hemorrhage", - "regional part of nervous system", - "abnormal head", - "digit 1", - "Abnormal erythroid lineage cell morphology", - "male reproductive organ", - "reproductive structure", - "cell cycle", - "abnormal reproductive system", - "manual digit 1 or 5", - "Abnormal platelet morphology", - "abnormally decreased number of platelet", - "Aplasia involving bones of the upper limbs", - "system", + "abnormality of musculoskeletal system physiology", + "abnormal bone element mass density", + "abnormal multicellular organism chemical entity level", + "phosphate", + "non-connected functional system", + "calcitriol", "subdivision of organism along main body axis", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the hand", - "Abnormal hand morphology", - "abnormal manual digit morphology in the independent continuant", - "aplasia or hypoplasia of skeleton", - "forelimb skeleton", - "Intellectual disability", - "absent manual digit", - "digit 1 or 5", - "arm", + "decreased size of the anatomical entity", + "blood", + "phosphate ion homeostasis", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "increased level of chemical entity in blood", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "lipid", + "material anatomical entity", + "nephron", + "protein polypeptide chain", + "continuant", + "amino acid chain", + "tissue", + "subdivision of trunk", + "abnormal phenotype by ontology source", + "increased level of lipid in independent continuant", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "chemical homeostasis", + "skeletal element", + "cavitated compound organ", + "increased level of lipid in blood", + "increased level of parathyroid hormone in blood serum", + "Abnormal circulating protein concentration", + "entity", + "abnormal blood lipid level", + "information biomacromolecule", + "Glycosuria", + "Abnormal bone ossification", + "abdominal segment element", + "abnormal anatomical entity mass density", + "epithelium", + "abnormality of anatomical entity physiology", + "abnormally decreased functionality of the nephron tubule", + "anatomical system", + "All", + "decreased level of chemical entity in independent continuant", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "abnormal growth", + "independent continuant", + "abnormal anatomical entity", + "abnormal independent continuant nitrogen molecular entity level", + "abnormal independent continuant monoatomic ion level", + "excretory system", + "abnormal size of multicellular organism", + "bone element", + "anatomical entity", + "multicellular anatomical structure", + "increased blood serum base level", + "abnormal blood phosphate level", + "multicellular organismal process", + "organ part", + "Abnormal musculoskeletal physiology", + "anatomical entity dysfunction in independent continuant", + "haemolymphatic fluid", + "abnormal skeletal system", + "abnormal blood nitrogen molecular entity level", + "increased level of lipid", + "organic hydroxy compound metabolic process", + "Alkalemia", + "Proteinuria", + "protein-containing material entity", + "abnormal skeletal system morphology", + "abnormal protein level", + "abnormal phosphate ion homeostasis", + "Abnormality of the musculoskeletal system", + "monoatomic ion homeostasis", + "abnormal urine chemical entity level", + "organic cyclic compound metabolic process", + "ion", + "biomacromolecule", + "p-block molecular entity", + "triol", + "increased level of amino acid in independent continuant", + "homeostatic process", + "Abnormal homeostasis", + "Increased susceptibility to fractures", + "organochalcogen compound", + "urine", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "material entity", + "organic amino compound", + "polypeptide", + "Abnormality of bone mineral density", + "anatomical structure", + "anatomical conduit", + "Azotemia", + "abnormal blood monoatomic ion level", + "Abnormal urine metabolite level", + "process", + "fat-soluble vitamin metabolic process", + "nephron tubule", + "hydrogen molecular entity", + "abnormal role independent continuant level", + "abnormal genitourinary system", + "Aminoaciduria", + "organ system subdivision", + "increased level of calcitriol in independent continuant", + "musculoskeletal system", + "abnormal upper urinary tract", + "uriniferous tubule", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "Organic aciduria", + "increased level of protein in independent continuant", + "renal system", + "phenotype", + "Abnormal bone structure", + "organic cyclic compound", + "Abnormality of the genitourinary system", + "abnormal independent continuant amino acid level", + "phosphoric acid derivative", + "abnormality of renal system physiology", + "quality", + "carbon oxoacid", + "multicellular organism", + "hematopoietic system", + "abnormal role bodily fluid level", + "abnormal biological_process", + "Recurrent fractures", + "carbonyl compound", + "polyatomic entity", + "abnormal chemical entity level", + "Abnormality of the skeletal system", + "abnormal independent continuant phosphate level", + "Elevated urinary carboxylic acid", + "pnictogen molecular entity", + "occurrent", + "organ", + "delayed biological_process", + "Osteomalacia", + "oxoacid", + "carbohydrate", + "increased bodily fluid role level", + "biological_process", + "renal tubule", + "Hyperlipidemia", + "abnormal vitamin D level", + "genitourinary system", + "skeletal system", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "abnormal independent continuant chemical entity level", + "carbon group molecular entity", + "Abnormal circulating calcium-phosphate regulating hormone concentration", + "bodily fluid", + "seco-steroid", + "metabolic process", + "Bone pain", + "Abnormality of the upper urinary tract", + "Abnormal blood phosphate concentration", + "phosphorus oxoacids and derivatives", + "kidney epithelium", + "compound organ", + "epithelial tube", + "abdomen", + "abdominal segment of trunk", + "Renal tubular dysfunction", + "abnormal kidney", + "increased bodily fluid base level", + "increased level of glucose in urine", + "body proper", + "trunk region element", + "nephron epithelium", + "lateral structure", + "Proximal tubulopathy", + "organism subdivision", + "tube", + "excretory tube", + "Abnormality of urine homeostasis", + "upper urinary tract", + "abnormal hematopoietic system", + "abnormal independent continuant carboxylic acid level", + "Renal phosphate wasting", + "abnormal endocrine system", + "kidney", + "hemolymphoid system", + "Rickets", + "increased level of organic acid in independent continuant", + "Abnormal urine phosphate concentration", + "increased level of carboxylic acid in urine", + "increased level of chemical entity in blood plasma", + "s-block molecular entity", + "amino acid", + "molecule", + "increased level of nitrogen molecular entity in independent continuant", + "increased level of organic acid in urine", + "carboxamide", + "Generalized aminoaciduria", "Short stature", - "Abnormality of limb bone", - "abnormal size of eyeball of camera-type eye", - "abnormal face", - "aplastic anatomical entity", - "abnormal eye movement", - "subdivision of organism along appendicular axis", - "cellular response to stress", - "absent anatomical entity in the independent continuant", - "agenesis of anatomical entity", - "bone of appendage girdle complex", - "manual digit", - "Abnormality of limb bone morphology", - "glandular system", - "skull", + "abnormally decreased functionality of the anatomical entity", "endocrine system", - "abnormal endocrine system", - "Abnormality of the cell cycle", - "Abnormal appendicular skeleton morphology", - "renal system", - "Hypergonadotropic hypogonadism", - "reproductive organ", - "shape kidney", - "Abnormal forearm morphology", - "abnormally decreased number of anatomical entity", - "Hypogonadism", - "endochondral bone", - "abnormal limb bone", - "abnormally decreased functionality of the gonad", - "regional part of brain", - "abnormality of reproductive system physiology", - "digit 1 digitopodial skeleton", - "gonad", - "heart", - "upper limb segment", - "Abnormality of the genital system", - "decreased anatomical entity mass", - "increased pigmentation", - "anatomical entity dysfunction in independent continuant", - "increased pigmentation in skin of body", - "manual digit 1", - "cellular process", - "Abnormality of metabolism/homeostasis", - "Bruising susceptibility", - "cellular component organization or biogenesis", - "Abnormality of the face", + "increased level of chemical entity in independent continuant", + "Abnormal urine pH", + "carboxylic acid", + "organic polycyclic compound", + "Abnormal renal physiology", + "chalcogen molecular entity", + "abnormal urine amino acid level", + "nitrogen molecular entity", + "abnormal vitamin D metabolic process", + "Abnormality of the urinary system physiology", + "hydroxycalciol", + "increased independent continuant hormone level", + "increased independent continuant base level", + "Abnormality of the urinary system", + "Aciduria", + "organic molecule", + "abnormal size of anatomical entity", + "abnormal amino acid level", + "increased level of organic molecular entity in independent continuant", + "abnormality of multicellular organism height", + "decreased level of chemical entity", + "abnormal phosphate level", + "Abnormal urine carboxylic acid level", + "primary metabolic process", + "glandular system", + "organic molecular entity", + "increased level of chemical entity in urine", + "increased level of amino acid in urine", + "increased level of chemical entity in bodily fluid", + "abnormal role urine level", + "organic substance metabolic process", + "High serum calcitriol", + "increased level of chemical entity", + "organonitrogen compound", + "organooxygen compound", + "heteroorganic entity", + "Abnormal circulating metabolite concentration", + "ossification", + "organic acid", + "hydroxides", + "oxygen molecular entity", + "increased independent continuant role level", + "increased level of carboxylic acid in independent continuant", + "Abnormal urine protein level", + "abnormal hormone blood level", + "polycyclic compound", + "carbohydrates and carbohydrate derivatives", + "organic hydroxy compound", + "abnormal small molecule metabolic process", + "abnormal renal system", + "vitamin D", + "lipid metabolic process", + "vitamin metabolic process", + "disconnected anatomical group", + "Abnormality of the kidney", + "abnormal lipid metabolic process", + "Abnormality of the endocrine system", + "Abnormality of vitamin metabolism", + "abnormal primary metabolic process", + "increased level of calcitriol in blood", "Phenotypic abnormality", - "abnormal digit morphology", - "Abnormality of the genitourinary system", - "cell cycle phase", - "decreased size of the eyeball of camera-type eye", - "appendage girdle complex", - "abnormal anatomical entity topology in independent continuant", - "limb segment", - "Macule", - "Abnormality of the cardiovascular system", - "skin of body", - "abnormal biological_process", - "multi-tissue structure", - "Abnormal cellular physiology", - "Aplasia/hypoplasia of the extremities", - "biological phase", - "obsolete cell", - "interphase", - "Prolonged G2 phase of cell cycle", - "upper urinary tract", - "skeletal system", - "abnormally decreased functionality of the anatomical entity", - "abnormal ear", - "abdominal segment element", - "abnormal cell cycle", - "Abnormality of the upper limb", - "absent anatomical entity in the limb", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "DNA repair", - "Abnormality of the skeletal system", - "digit", - "abdominal segment of trunk", - "abnormal renal collecting system", - "Abnormal cellular immune system morphology", - "Duplicated collecting system", - "viscus", - "integumental system", - "reproductive process", - "abnormal pigmentation", - "Hyperpigmentation of the skin", - "increased qualitatively biological_process in independent continuant", - "reticulocyte", - "abnormal central nervous system morphology", - "increased biological_process", + "Abnormal circulating lipid concentration", + "excreta", + "organic oxo compound", "abnormal metabolic process", - "changed biological_process rate", - "abnormal integument", - "abnormal growth", - "increased biological_process in skin of body", - "abnormal eyeball of camera-type eye", - "abnormal pigmentation in independent continuant", - "abnormal biological_process in independent continuant", - "abnormal skin of body morphology", - "abnormal sensory perception of sound", - "abnormal testis morphology", - "reproductive system", - "absent anatomical entity in the forelimb", - "abnormal skin of body", - "testis", - "craniocervical region", - "abnormal cellular process", - "abnormal programmed DNA elimination by chromosome breakage", - "Abnormal leukocyte morphology", - "Abnormality of brain morphology", - "abnormally decreased number of leukocyte", - "skeletal element", - "Abnormality of mental function", - "Abnormality of the head", - "Abnormal reproductive system morphology", - "Pancytopenia", - "Morphological central nervous system abnormality", - "manus bone", - "Absent thumb", - "skeleton", - "abnormal anatomical entity morphology in the brain", - "Abnormality of body weight", - "abnormal telencephalon morphology", - "Abnormal conjugate eye movement", - "organ system subdivision", - "process", - "aplasia or hypoplasia of radius bone", - "main body axis", - "cellular organisms", - "organism", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "absent kidney in the independent continuant", - "manual digit plus metapodial segment", - "phalanx endochondral element", - "limb skeleton subdivision", - "Microcephaly", - "immune system", - "abnormal craniocervical region", - "postcranial axial skeletal system", - "paired limb/fin skeleton", - "Abnormal cerebral morphology", - "Non-obstructive azoospermia", - "absent anatomical entity in the multicellular organism", - "anterior region of body", - "Abnormality of the integument", - "paired limb/fin segment", - "abnormally decreased number of neutrophil", - "granulocyte", - "abnormally decreased number of hematopoietic cell", - "Eukaryota", - "forebrain", - "Abnormality of multiple cell lineages in the bone marrow", - "anatomical collection", - "abnormal skull morphology", - "musculoskeletal system", - "abnormally localised anatomical entity in independent continuant", - "appendicular skeleton", - "Abnormal axial skeleton morphology", - "abnormal autopod region morphology", - "behavior", - "blood cell", - "erythroid lineage cell", + "abnormal lipid level", + "increased level of parathyroid hormone in blood", + "hydroxy steroid", + ], + "has_phenotype_count": 17, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0014275", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 3", + "full_name": None, + "deprecated": None, + "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.", + "xref": ["DOID:0080759", "GARD:15991", "OMIM:615605", "UMLS:C3810100"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": [ + "EHHADH Fanconi syndrome", + "FRTS3", + "Fanconi renotubular syndrome 3", + "Fanconi renotubular syndrome type 3", + "Fanconi syndrome caused by mutation in EHHADH", + ], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0001942", + "HP:0001510", + "HP:0003259", + "HP:0003109", + "HP:0002748", + "HP:0002979", + "HP:0003076", + "HP:0000083", + "HP:0004322", + "HP:0003355", + "HP:0003126", + ], + "has_phenotype_label": [ + "Metabolic acidosis", + "Growth delay", + "Elevated circulating creatinine concentration", + "Hyperphosphaturia", + "Rickets", + "Bowing of the legs", + "Glycosuria", + "Renal insufficiency", + "Short stature", + "Aminoaciduria", + "Low-molecular-weight proteinuria", + ], + "has_phenotype_closure": [ + "UPHENO:0068565", + "UPHENO:0051801", + "CHEBI:15841", + "HP:0000093", + "CHEBI:16541", + "UPHENO:0068247", + "CHEBI:16670", + "UPHENO:0068169", + "CHEBI:36586", + "UPHENO:0068495", + "CHEBI:50047", + "CHEBI:33575", + "CHEBI:24651", + "UPHENO:0046286", + "UPHENO:0051930", + "HP:0003355", + "CHEBI:36587", + "UPHENO:0068091", + "HP:0031980", + "UPHENO:0051670", + "HP:0012072", + "HP:0032943", + "CHEBI:33709", + "UPHENO:0081424", + "UPHENO:0069254", + "UPHENO:0075159", + "UPHENO:0068971", + "UBERON:0002113", + "UBERON:0011143", + "UBERON:0005173", + "UBERON:0000916", + "UPHENO:0075195", + "UPHENO:0086132", + "UBERON:0000489", + "HP:0012211", + "UBERON:0009569", + "UBERON:0013701", + "UBERON:0011676", + "UPHENO:0075902", + "CHEBI:33674", + "UPHENO:0068058", + "HP:0000077", + "CHEBI:78616", + "UPHENO:0052116", + "CHEBI:17234", + "CHEBI:35381", + "CHEBI:18133", + "UPHENO:0081544", + "CHEBI:15693", + "UPHENO:0041258", + "HP:6000531", + "UPHENO:0068352", + "UPHENO:0079534", + "CHEBI:50860", + "CHEBI:23443", + "CHEBI:24532", + "CHEBI:37622", + "UPHENO:0001001", + "CHEBI:16646", + "CHEBI:38304", + "UPHENO:0068064", + "CHEBI:72695", + "GO:0008150", + "UBERON:0002193", + "CHEBI:33675", + "UPHENO:0002332", + "UPHENO:0078554", + "UPHENO:0076740", + "UPHENO:0082467", + "HP:0012100", + "CHEBI:32988", + "UPHENO:0002411", + "HP:0002981", + "CHEBI:35352", + "UPHENO:0077826", + "CHEBI:38101", + "UPHENO:0081550", + "UPHENO:0041573", + "UPHENO:0076703", + "CHEBI:33661", + "UPHENO:0001002", + "GO:0008152", + "CHEBI:36962", + "UPHENO:0002830", + "UPHENO:0080351", + "UPHENO:0076286", + "UPHENO:0068049", + "CHEBI:51143", + "UPHENO:0051640", + "UPHENO:0081546", + "HP:0004360", + "HP:0430071", + "BFO:0000020", + "UPHENO:0068491", + "UPHENO:0012541", + "CHEBI:36360", + "UPHENO:0051763", + "UPHENO:0041098", + "UPHENO:0078550", + "HP:0004364", + "BFO:0000004", + "UPHENO:0051753", + "UPHENO:0068346", + "UPHENO:0051894", + "UPHENO:0086956", + "CHEBI:36963", + "UPHENO:0068442", + "CHEBI:24995", + "CHEBI:38261", + "UPHENO:0082542", + "HP:0000119", + "UPHENO:0051635", + "UBERON:0001977", + "UBERON:0000178", + "HP:0000118", + "UPHENO:0068089", + "UPHENO:0001005", + "CHEBI:33832", + "UBERON:0000468", + "HP:0000002", + "HP:0033354", + "HP:0002157", + "CHEBI:55370", + "UBERON:8450002", + "UPHENO:0081547", + "HP:0012337", + "HP:0032180", + "UPHENO:0082536", + "HP:0001992", + "UBERON:0002390", + "UBERON:0010000", + "UBERON:0010363", + "HP:0001942", + "UPHENO:0076692", + "UPHENO:0002536", + "HP:0006487", + "UPHENO:0068538", + "UBERON:0004120", + "HP:0040064", + "UPHENO:0068144", + "UBERON:0010707", + "UPHENO:0002964", + "UBERON:0002101", + "UPHENO:0086128", + "UPHENO:0049587", + "CHEBI:33595", + "CHEBI:24431", + "UPHENO:0000541", + "CHEBI:33285", + "CHEBI:25367", + "UPHENO:0076727", + "UPHENO:0079873", + "UPHENO:0001003", + "UPHENO:0031193", + "GO:0040007", + "CHEBI:33582", + "UBERON:0000465", + "UPHENO:0082539", + "PR:000050567", + "BFO:0000003", + "HP:0011844", + "UBERON:0004709", + "CHEBI:24833", + "UBERON:0001008", + "CHEBI:33839", + "CHEBI:26079", + "CHEBI:33670", + "PATO:0000001", + "UPHENO:0002442", + "UBERON:0011249", + "UBERON:0000978", + "HP:0000001", + "CHEBI:16737", + "UPHENO:0076289", + "CHEBI:5686", + "BFO:0000002", + "UBERON:0001062", + "CHEBI:33256", + "CHEBI:33302", + "CHEBI:25693", + "UBERON:0000061", + "BFO:0000015", + "UBERON:0005055", + "UPHENO:0080659", + "UPHENO:0051668", + "CHEBI:33579", + "UPHENO:0081548", + "UPHENO:0015280", + "UPHENO:0082538", + "UBERON:0004769", + "UPHENO:0048707", + "HP:0011849", + "HP:0001941", + "UPHENO:0051804", + "CHEBI:36357", + "UPHENO:0077821", + "HP:0003076", + "UPHENO:0000543", + "CHEBI:23367", + "BFO:0000040", + "UPHENO:0082834", + "HP:0004349", + "UBERON:0006314", + "UPHENO:0046284", + "UBERON:0003103", + "UPHENO:0068110", + "BFO:0000001", + "CHEBI:64709", + "UPHENO:0079536", + "HP:0001871", + "UPHENO:0049874", + "UBERON:0003823", + "HP:0001510", + "HP:0003109", + "HP:0012591", + "HP:0001507", + "CHEBI:37577", + "UBERON:0002417", + "UPHENO:0082129", + "HP:0001939", + "UBERON:0011216", + "UBERON:0001969", + "UBERON:0005172", + "UPHENO:0052038", + "HP:0020129", + "UPHENO:0046348", + "UBERON:0005177", + "UPHENO:0051847", + "CHEBI:36359", + "HP:0003110", + "UBERON:0001088", + "UPHENO:0051686", + "UPHENO:0051739", + "UPHENO:0051900", + "UPHENO:0068292", + "UPHENO:0084654", + "CHEBI:26082", + "HP:0010935", + "UBERON:0004122", + "UBERON:0002100", + "UPHENO:0082875", + "UBERON:0001474", + "HP:0011277", + "HP:0012599", + "CHEBI:33241", + "HP:0040156", + "UBERON:0000463", + "CHEBI:26020", + "UPHENO:0084763", + "HP:0000924", + "UBERON:0000174", + "GO:0001503", + "UPHENO:0081423", + "UPHENO:0002642", + "HP:0003126", + "UPHENO:0002803", + "UPHENO:0002832", + "HP:0002748", + "UBERON:0004708", + "UBERON:0001434", + "UBERON:0000062", + "HP:0000083", + "GO:0032501", + "UPHENO:0082835", + "UPHENO:0075696", + "HP:0011842", + "HP:0004348", + "UPHENO:0084653", + "UBERON:0002204", + "UPHENO:0068054", + "UPHENO:0020041", + "HP:0003330", + "UPHENO:0041610", + "UBERON:0000467", + "UBERON:0004765", + "UPHENO:0068251", + "UBERON:0004288", + "UBERON:0000064", + "HP:0002814", + "RO:0002577", + "UBERON:0034944", + "UPHENO:0002896", + "UPHENO:0080300", + "UPHENO:0004459", + "UBERON:0002428", + "UBERON:0005913", + "UBERON:0004381", + "UPHENO:0080352", + "UBERON:0000179", + "UBERON:0000026", + "HP:0033127", + "UPHENO:0086635", + "UBERON:0000475", + "UPHENO:0041536", + "UBERON:0002529", + "UPHENO:0086780", + "UBERON:0000075", + "UBERON:0010912", + "UBERON:0011582", + "CHEBI:25806", + "UPHENO:0082449", + "HP:0004322", + "UBERON:0015061", + "CHEBI:33917", + "UBERON:0004375", + "UBERON:0002103", + "UBERON:0010538", + "UPHENO:0051630", + "UPHENO:0068190", + "UBERON:0010712", + "CHEBI:35605", + "UPHENO:0041591", + "UBERON:0002091", + "UPHENO:0031310", + "UPHENO:0020584", + "UBERON:0013702", + "CHEBI:33304", + "HP:0002813", + "HP:0011314", + "UPHENO:0080658", + "UBERON:0002495", + "HP:0000079", + "UBERON:0002513", + "UPHENO:0084767", + "UPHENO:0086628", + "UPHENO:0076285", + "UBERON:0015212", + "UBERON:0010709", + "UBERON:0006058", + "UPHENO:0041226", + "UPHENO:0075952", + "HP:0040068", + "HP:0002979", + "UPHENO:0082543", + "UBERON:0002471", + "CHEBI:33608", + "HP:0000940", + "GO:0042592", + "UBERON:0034925", + "UPHENO:0068472", + "UBERON:0000154", + "HP:0003259", + "UBERON:0010758", + "UPHENO:0068040", + "UBERON:0008784", + "UPHENO:0077858", + "UPHENO:0003070", + "UBERON:0010740", + ], + "has_phenotype_closure_label": [ + "macromolecule", + "abnormal independent continuant protein polypeptide chain level", + "Low-molecular-weight proteinuria", + "increased level of protein polypeptide chain in independent continuant", + "Abnormal urine protein level", + "peptide", + "increased level of carboxylic acid in independent continuant", + "organic amino compound", + "carboxylic acid", + "increased level of amino acid in urine", + "hydroxides", + "carbon oxoacid", + "carbonyl compound", + "abnormal independent continuant amino acid level", + "Abnormal urine pH", + "increased independent continuant base level", + "abnormal urine amino acid level", + "hydrogen molecular entity", + "increased level of organic acid in urine", + "amino acid", + "increased level of amino acid in independent continuant", + "increased level of organic acid in independent continuant", + "abnormal amino acid level", "abnormal size of anatomical entity", - "abnormal number of anatomical enitites of type platelet", - "hematopoietic system", - "abnormal forebrain morphology", - "haploid cell", - "Abnormal renal morphology", - "Abnormality of limbs", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "root", - "Abnormal neutrophil count", - "abnormal organelle organization", - "abnormal head morphology", - "head", - "abnormally decreased number of granulocyte", - "abnormal sensory perception", - "Neurodevelopmental abnormality", - "Abnormal skull morphology", - "Neoplasm", - "abnormal bone marrow cell", - "system process", - "Abnormal granulocyte morphology", - "protein-containing material entity", - "biological_process", - "subdivision of skeleton", - "circulatory system", - "sense organ", - "subdivision of skeletal system", - "male gamete", - "ectoderm-derived structure", - "telencephalon", - "manual digit 1 plus metapodial segment", - "Duplication of bones involving the upper extremities", - "abnormal postcranial axial skeleton morphology", - "eyeball of camera-type eye", - "changed biological_process rate in independent continuant", - "Thrombocytopenia", - "abnormal craniocervical region morphology", - "All", - "organism substance", - "Aplasia/Hypoplasia involving the central nervous system", - "protein-DNA complex organization", - "organ", - "programmed DNA elimination by chromosome breakage", - "abnormal bone marrow morphology", - "organism subdivision", - "abnormal gamete", - "Abnormal nervous system physiology", - "thoracic cavity element", - "Abnormality of the kidney", + "Short stature", + "Abnormality of body height", + "decreased size of the anatomical entity in the independent continuant", + "decreased height of the multicellular organism", + "kidney", "cavitated compound organ", - "Abnormality of the musculoskeletal system", - "abnormal size of skull", - "abnormal limb", + "abdomen element", + "Abnormality of the kidney", + "Renal insufficiency", "trunk region element", - "pectoral complex", - "abnormal hematopoietic system", - "Anemic pallor", - "absent anatomical entity in the renal system", - "abdomen", - "acropodial skeleton", "abnormal kidney", - "nervous system process", - "body proper", - "forelimb zeugopod", - "Abnormal nervous system morphology", - "genitourinary system", - "abnormality of anatomical entity mass", - "abnormal cell", - "bone element", - "abnormal nervous system morphology", - "abnormal cardiovascular system morphology", - "Abnormal eye morphology", - "Abnormality of head or neck", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/hypoplasia involving bones of the extremities", - "skeleton of manual digitopodium", - "axial skeletal system", - "abnormality of nervous system physiology", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal genitourinary system", + "abdominal segment of trunk", + "trunk", + "abdomen", "Abnormality of the upper urinary tract", - "enucleated reticulocyte", - "forelimb zeugopod bone", - "quality", - "aplasia or hypoplasia of anatomical entity", - "regulation of biological process", - "Abnormal thumb morphology", - "oxygen accumulating cell", - "Abnormal localization of kidney", - "subdivision of trunk", - "abdomen element", - "autopod region", - "compound organ", - "Abnormal renal collecting system morphology", - "male germ cell", - "limb", - "lateral structure", - "Cryptorchidism", - "non-connected functional system", - "abnormal leukocyte morphology", - "abnormally localised anatomical entity", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "non-functional kidney", + "non-functional anatomical entity", + "main body axis", + "subdivision of organism along main body axis", + "increased level of glucose in independent continuant", + "Abnormal urine metabolite level", + "body proper", + "increased level of glucose in urine", + "carbohydrates and carbohydrate derivatives", + "increased level of monosaccharide in urine", + "abnormal role urine level", + "Abnormal urinary organic compound level", + "glucose", + "aldose", + "hexose", + "abnormal urine glucose level", + "Abnormal urine carboxylic acid level", + "abnormality of multicellular organism height", + "abnormal phosphate level", + "abnormality of kidney physiology", + "main group molecular entity", + "increased level of creatinine in independent continuant", + "primary amide", + "abnormal blood nitrogen molecular entity level", + "increased level of creatinine in blood", + "increased bodily fluid acid level", + "decreased height of the anatomical entity", + "abnormal metabolite independent continuant level", + "organonitrogen heterocyclic compound", + "abnormal shape of continuant", + "molecule", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormality of anatomical entity height", + "bone of appendage girdle complex", + "oxygen molecular entity", + "anatomical system", + "abnormal independent continuant carbohydrate level", + "organic molecule", + "abnormal independent continuant nitrogen molecular entity level", + "abnormal anatomical entity", + "organooxygen compound", + "upper urinary tract", + "Abnormality of urine homeostasis", + "shape anatomical entity", + "blood plasma", + "decreased size of the anatomical entity", + "blood", + "abdominal segment element", + "Glycosuria", + "Abnormal bone ossification", + "hindlimb", + "organic molecular entity", + "heteromonocyclic compound", + "haemolymphatic fluid", + "multicellular organism", + "hematopoietic system", + "increased level of nitrogen molecular entity in blood", + "abnormal blood chemical entity level", + "imidazolidines", + "increased level of chemical entity in blood serum", + "urine", + "increased level of creatinine in blood serum", + "excretory system", + "imidazolidinone", + "Abnormal circulating creatinine concentration", + "increased level of chemical entity", + "heteroorganic entity", + "abnormal role blood serum level", + "phosphorus molecular entity", + "Azotemia", + "cyclic amide", + "paired limb/fin segment", + "pnictogen molecular entity", + "abnormal blood serum chemical entity level", + "curved long bone", + "phenotype by ontology source", + "growth", + "monocyclic compound", + "Abnormal bone structure", + "organic cyclic compound", "phenotype", - "abnormal renal system", - "postcranial axial skeleton", - "abnormally localised kidney", - "absent digit", + "abnormal role blood level", + "Abnormality of metabolism/homeostasis", + "long bone", + "increased independent continuant acid level", + "chemical entity", + "material anatomical entity", + "Metabolic acidosis", + "Abnormal renal physiology", + "chalcogen molecular entity", + "s-block molecular entity", + "increased level of chemical entity in blood plasma", + "Elevated circulating creatinine concentration", + "abnormal independent continuant creatinine level", + "molecular entity", "Abnormality of blood and blood-forming tissues", + "organism substance", + "increased level of chemical entity in blood", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "abnormal role independent continuant level", + "process", + "abnormal blood plasma chemical entity level", + "multi-limb segment region", + "bodily fluid", + "abnormal urine phosphate level", + "subdivision of trunk", + "abnormal phenotype by ontology source", + "independent continuant", + "abnormal growth", + "genitourinary system", + "abnormal blood creatinine level", + "abnormal acid independent continuant level", + "organic heteromonocyclic compound", + "oxoacid", + "delayed biological_process", + "limb skeleton subdivision", + "Abnormal circulating nitrogen compound concentration", + "abnormal independent continuant chemical entity level", + "carbon group molecular entity", + "increased blood serum role level", + "abnormal acid bodily fluid level", + "organic oxo compound", + "excreta", + "phosphorus oxoacid derivative", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "curvature anatomical entity in independent continuant", "anatomical structure", - "Abnormality of the urinary system", - "Decreased anatomical entity mass", - "Abnormality of skin morphology", - "multicellular organismal process", - "Abnormal myeloid cell morphology", - "increased pigmentation in independent continuant", - "manual digitopodium bone", - "abnormal skeletal system morphology", - "absent sperm in the independent continuant", - "internal male genitalia", + "polypeptide", + "abnormal limb", + "Abnormality of bone mineral density", + "Bowing of the long bones", + "Acidosis", + "material entity", + "Phenotypic abnormality", + "Hyperphosphaturia", + "Abnormal circulating organic compound concentration", + "increased level of chemical entity in bodily fluid", + "increased level of chemical entity in urine", + "delayed growth", + "abnormal bone element mass density", + "posterior region of body", + "multicellular anatomical structure", + "blood serum", + "increased level of chemical entity in independent continuant", + "metabolic process", + "p-block molecular entity", + "Elevated urinary carboxylic acid", + "skeleton", + "anatomical entity", + "carboxamide", + "endochondral element", + "organ", "occurrent", - "Metazoa", - "Cognitive impairment", - "abnormal nervous system", - "abnormal cellular component organization", - "appendicular skeletal system", - "Abnormality of the nervous system", - "abnormal cellular metabolic process", - "acropodium region", - "pectoral appendage skeleton", - "nucleate cell", - "Abnormality of the orbital region", - "Abnormal cellular phenotype", - "entity", - "abnormal number of anatomical enitites of type hematopoietic cell", - "pigmentation", - "myeloid leukocyte", - "germ cell", - "abnormal spermatogenesis", - "segment of manus", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal neutrophil", - "abnormal blood cell", - "Functional abnormality of male internal genitalia", - "increased biological_process in independent continuant", - "abnormally decreased number of cell in the independent continuant", - "abnormally decreased number of cell", - "cranial skeletal system", - "Hematological neoplasm", - "Aplasia/Hypoplasia of fingers", - "radius endochondral element", - "abnormal immune system morphology", - "leukocyte", - "mesoderm-derived structure", - "abnormal upper urinary tract", - "specifically dependent continuant", - "increased qualitatively biological_process", - "abnormal anatomical entity length", - "abnormal number of anatomical enitites of type cell", - "abnormal digit", - "abnormal number of anatomical enitites of type neutrophil", - "abnormality of anatomical entity physiology", - "Puberty and gonadal disorders", - "Abnormal immune system morphology", - "abnormal nitrogen compound metabolic process", - "abnormal immune system", - "abnormally decreased number of myeloid cell", - "Abnormality of blood circulation", - "excretory system", - "skeleton of limb", - "nervous system", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "protein-containing complex organization", - "abnormal granulocyte morphology", - "Decreased head circumference", - "hematopoietic cell", - "regulation of macromolecule metabolic process", + "appendicular skeleton", + "Abnormality of acid-base homeostasis", + "Abnormal homeostasis", + "organochalcogen compound", + "homeostatic process", + "abnormal hindlimb zeugopod morphology", + "appendage girdle complex", + "organic heterocyclic compound", + "organic acid", + "Abnormal circulating metabolite concentration", + "ossification", + "abnormal hindlimb zeugopod", + "organism subdivision", + "protein polypeptide chain", "continuant", - "aplastic manual digit 1", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal myeloid leukocyte morphology", - "abnormal manual digit morphology in the manus", - "Ectopic kidney", - "hemolymphoid system", - "Abnormal heart morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Renal hypoplasia/aplasia", - "abnormal manus morphology", - "cell", - "phenotype by ontology source", - "integument", - "metabolic process", - "abnormal phalanx morphology", - "myeloid cell", - "Neutropenia", - "abnormal skeletal system", - "disconnected anatomical group", - "abnormal number of anatomical enitites of type granulocyte", - "changed developmental process rate", - "neutrophil", - "abnormal cellular response to stress", - "independent continuant", - "abnormal hematopoietic system morphology", - "Aplasia/hypoplasia involving the skeleton", - "Abnormal granulocyte count", - "abnormal hematopoietic cell morphology", - "abnormal limb morphology", - "brain", - "Abnormal external genitalia", - "Abnormal leukocyte count", - "Pallor", - "Renal agenesis", + "cyclic compound", + "appendage", + "organonitrogen compound", + "polyatomic entity", + "abnormal role bodily fluid level", + "abnormal biological_process", + "lactam", + "increased independent continuant role level", + "creatinine", + "subdivision of skeletal system", + "entity", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", "Growth abnormality", - "abnormal renal system morphology", - "abnormal brain morphology", - "aplasia or hypoplasia of telencephalon", - "abnormal anatomical entity morphology", - "Abnormality of the immune system", - "Abnormality of the skin", - "3-D shape anatomical entity in independent continuant", - "anatomical system", - "Abnormality of the endocrine system", - "abnormal kidney morphology", - "immaterial anatomical entity", - "Abnormal bleeding", - "blood circulation", - "endochondral element", - "Abnormality of neutrophils", - "structure with developmental contribution from neural crest", - "renal collecting system", - "Abnormality of skin pigmentation", - "abnormally decreased number of granulocyte in the independent continuant", - "simple eye", - "abnormally decreased number of anatomical entity in the independent continuant", - "axial skeleton plus cranial skeleton", + "increased blood role level", + "leg", + "Abnormality of the skeletal system", + "Bowing of the legs", + "abnormal independent continuant phosphate level", + "abnormal leg", + "All", + "anatomical collection", + "Growth delay", + "diaphysis", + "renal system", + "abnormal urine chemical entity level", + "Abnormality of the urinary system physiology", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "zone of bone organ", + "abnormality of anatomical entity physiology", + "compound organ", + "phosphorus oxoacids and derivatives", + "quality", + "abnormality of renal system physiology", + "phosphoric acid derivative", + "abnormal renal system", + "hindlimb zeugopod", + "Abnormal long bone morphology", + "increased level of phosphate in urine", + "oxoacid derivative", + "Aciduria", + "Abnormality of the urinary system", + "abnormal genitourinary system", + "abnormal hindlimb morphology", + "abnormal multicellular organism chemical entity level", + "phosphate", + "Abnormality of the genitourinary system", + "shape hindlimb zeugopod", + "increased level of phosphate in independent continuant", + "abnormal skeletal system", "Abnormal skeletal morphology", + "Proteinuria", + "protein-containing material entity", + "abnormal skeletal system morphology", + "Abnormality of the musculoskeletal system", + "abnormal upper urinary tract", + "curvature anatomical entity", + "musculoskeletal system", + "hemolymphoid system", + "Rickets", + "abnormal independent continuant glucose level", + "abnormal anatomical entity morphology in the pelvic complex", + "abnormal hindlimb zeugopod, curved", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "abnormal anatomical entity mass density", + "heterocyclic compound", + "skeletal system", + "multicellular organismal process", + "organ part", + "abnormal size of multicellular organism", + "bone element", + "Decreased anatomical entity mass density", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "increased level of monosaccharide in independent continuant", + "Aminoaciduria", + "organ system subdivision", + "increased level of nitrogen molecular entity in independent continuant", + "abnormal diaphysis morphology in the independent continuant", + "diazolidine", + "Reduced bone mineral density", + "Abnormality of the lower limb", + "curved anatomical entity in independent continuant", + "abnormal appendicular skeleton morphology", + "limb bone", + "skeleton of limb", + "abnormal anatomical entity morphology in the independent continuant", + "increased level of protein polypeptide chain in urine", + "limb segment", + "abnormal anatomical entity, curved", + "curved anatomical entity", + "abnormal long bone morphology", + "aldohexose", + "zone of organ", + "shape anatomical entity in independent continuant", + "limb", + "pelvic appendage", + "zone of long bone", + "Abnormality of the calf", + "paired limb/fin", + "subdivision of organism along appendicular axis", + "heteroatomic molecular entity", + "paired limb/fin skeleton", "limb endochondral element", - "anatomical entity", - "abnormality of multicellular organism mass", - "eukaryotic cell", - "appendage", - "U-shaped kidney", - "material anatomical entity", - "abnormal blood cell morphology", - "material entity", - "limb long bone", - "abnormally decreased number of myeloid cell in the independent continuant", - "kinesthetic behavior", - "abnormal number of anatomical enitites of type myeloid cell", - "multicellular organism", - "kidney", - "Reticulocytopenia", - "Opisthokonta", - "Abnormal myeloid leukocyte morphology", - "abnormal phenotype by ontology source", - "abnormal location of anatomical entity", - "abnormal myeloid cell morphology", - "cognition", - "manus", - "male organism", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal forebrain morphology", - "Abnormal cell morphology", - "abnormally decreased number of leukocyte in the independent continuant", + "bone of free limb or fin", + "abnormal limb bone morphology", + "lateral structure", + "curved hindlimb zeugopod", + "system", + "monosaccharide", + "Abnormal appendicular skeleton morphology", + "amide", + "Abnormality of limb bone", + "Organic aciduria", + "Abnormal diaphysis morphology", + "subdivision of skeleton", + "endochondral bone", + "pelvic complex", + "abnormal chemical entity level", + "appendicular skeletal system", + "increased level of organic molecular entity in independent continuant", + "abnormal limb bone", + "shape long bone", + "lower limb segment", + "skeletal element", + "zeugopod", + "nitrogen molecular entity", + "abnormal limb morphology", + "abnormal diaphysis morphology", + "increased bodily fluid role level", + "biological_process", + "carbohydrate", ], - "has_phenotype_count": 32, + "has_phenotype_count": 11, "highlight": None, "score": None, }, { - "id": "MONDO:0014638", + "id": "MONDO:0100238", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group T", + "name": "inherited Fanconi renotubular syndrome", "full_name": None, "deprecated": None, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.", - "xref": ["DOID:0111081", "GARD:16111", "OMIM:616435", "UMLS:C4084840"], + "description": "An instance of Fanconi renotubular syndrome that is inherited.", + "xref": ["OMIMPS:134600"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": ["hereditary Fanconi renotubular syndrome"], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": 0, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0024525", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 1", + "full_name": None, + "deprecated": None, + "description": None, + "xref": ["DOID:0080757", "OMIM:134600"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, "synonym": [ - "FANCT", - "Fanconi Anemia, complementation group type T", - "Fanconi anaemia caused by mutation in UBE2T", - "Fanconi anaemia complementation group type T", - "Fanconi anemia caused by mutation in UBE2T", - "Fanconi anemia complementation group type T", - "Fanconi anemia, complementation group T", - "UBE2T Fanconi anaemia", - "UBE2T Fanconi anemia", + "DeToni-Debré-Fanconi syndrome", + "FRTS1", + "Fanconi renotubular syndrome", + "Fanconi renotubular syndrome 1", + "Fanconi syndrome without cystinosis", + "Luder-Sheldon syndrome", + "adult Fanconi syndrome", + "primary Fanconi renal syndrome", + "primary Fanconi renotubular syndrome", + "renal Fanconi syndrome", ], "uri": None, "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0004808", - "HP:0001876", - "HP:0001873", - "HP:0009778", - "HP:0005528", - "HP:0009942", - "HP:0001903", - "HP:0003221", - "HP:0004322", - "HP:0000365", - "HP:0010628", - ], - "has_phenotype_label": [ - "Acute myeloid leukemia", - "Pancytopenia", - "Thrombocytopenia", - "Short thumb", - "Bone marrow hypocellularity", - "Duplication of thumb phalanx", - "Anemia", - "Chromosomal breakage induced by crosslinking agents", + "HP:0002749", + "HP:0001942", + "HP:0003648", + "HP:0001324", + "HP:0003155", + "HP:0002148", + "HP:0000124", + "HP:0003109", + "HP:0002900", + "HP:0002748", + "HP:0034359", + "HP:0003076", + "HP:0003355", + "HP:0004322", + "HP:0003126", + "HP:0000083", + ], + "has_phenotype_label": [ + "Osteomalacia", + "Metabolic acidosis", + "Lacticaciduria", + "Muscle weakness", + "Elevated circulating alkaline phosphatase concentration", + "Hypophosphatemia", + "Renal tubular dysfunction", + "Hyperphosphaturia", + "Hypokalemia", + "Rickets", + "Impaired renal tubular reabsorption of phosphate", + "Glycosuria", + "Aminoaciduria", "Short stature", - "Hearing impairment", - "Facial palsy", + "Low-molecular-weight proteinuria", + "Renal insufficiency", ], "has_phenotype_closure": [ - "UPHENO:0078730", - "UBERON:0001444", - "UPHENO:0076702", - "HP:0010827", - "UBERON:0004461", - "UBERON:0001647", - "UBERON:0034713", - "HP:0000301", - "UPHENO:0081709", - "UPHENO:0002910", - "UPHENO:0087907", - "UBERON:0001033", - "UBERON:0000383", - "UPHENO:0080555", - "HP:0000759", - "HP:0031910", - "UPHENO:0002320", - "HP:0011805", - "UBERON:0000122", - "HP:0012638", - "HP:0012639", - "UPHENO:0076722", - "HP:0001291", - "UBERON:0013700", - "UBERON:0015789", - "UBERON:0002376", - "UPHENO:0002908", - "HP:0006824", - "HP:0000707", - "HP:0003011", - "UBERON:0001456", - "UPHENO:0004508", - "UBERON:0012354", - "HP:0011804", - "UBERON:0002470", - "UPHENO:0049587", - "UBERON:0005090", - "HP:0410008", - "UPHENO:0085302", - "UBERON:0010314", - "HP:0000364", - "UPHENO:0063722", - "UBERON:0001690", - "HP:0000234", - "HP:0000152", - "UBERON:0000020", - "GO:0050954", - "UBERON:0004456", - "UPHENO:0002764", - "GO:0003008", - "UBERON:0001032", - "GO:0007600", - "UPHENO:0050625", - "HP:0001871", - "HP:0001507", - "HP:0001510", - "HP:0001909", - "UBERON:0010712", - "UPHENO:0081423", - "HP:0001872", - "GO:0031327", - "UPHENO:0084766", - "UBERON:0011676", - "GO:0050794", - "UBERON:0002105", - "UPHENO:0002433", - "HP:0030319", - "GO:0043170", - "GO:0007605", - "GO:0046483", - "GO:0034641", - "HP:0040012", - "UPHENO:0049990", - "UPHENO:0049873", - "GO:0031049", - "UPHENO:0049748", - "UPHENO:0049700", - "GO:0010558", - "BFO:0000004", - "HP:0003221", - "UBERON:0013702", - "GO:0031052", - "UBERON:0001785", - "GO:0044237", - "GO:0071840", - "UBERON:0002495", - "UPHENO:0080377", - "UPHENO:0050845", - "HP:0011017", - "HP:0001876", - "UPHENO:0003587", - "UPHENO:0050121", - "GO:0010556", - "GO:0031326", - "GO:0006259", - "GO:0071824", - "HP:0000598", - "GO:0060255", - "UBERON:0010543", - "GO:0065007", - "UBERON:0011249", - "GO:0031323", - "GO:0009892", - "GO:0048523", - "GO:0050789", - "GO:0006807", - "GO:0044238", - "HP:0004322", - "GO:0010629", - "UPHENO:0085189", - "HP:0031704", - "HP:0011842", - "HP:0000002", - "CL:0000219", - "GO:0009889", - "UPHENO:0004523", - "HP:0025461", - "GO:0005623", - "UPHENO:0082875", - "UPHENO:0088162", - "UPHENO:0088170", - "HP:0009997", - "UBERON:0015023", - "UBERON:0003607", - "UPHENO:0080352", - "UBERON:0012357", - "UPHENO:0086589", - "UBERON:0005897", - "UBERON:0001630", - "UBERON:0001436", - "UPHENO:0087369", - "UPHENO:0086173", - "GO:0031324", - "HP:0009942", + "UPHENO:0068565", + "CHEBI:37622", + "CHEBI:15841", + "CHEBI:32988", + "CHEBI:16541", + "UPHENO:0068247", + "CHEBI:16670", "GO:0040007", - "UBERON:0012150", - "UPHENO:0079872", - "UBERON:0007811", - "PATO:0000001", + "UPHENO:0081424", + "UPHENO:0086132", + "UPHENO:0075195", "UPHENO:0049874", - "UPHENO:0084447", - "HP:0040070", - "GO:0048519", - "UPHENO:0001002", - "HP:0009142", - "UBERON:0008962", - "GO:0050877", - "GO:0090304", - "UBERON:0011250", - "UBERON:5101463", - "BFO:0000002", - "UPHENO:0005433", - "UPHENO:0020041", - "UBERON:0012151", - "UBERON:0015021", - "UBERON:5102544", - "HP:0009602", - "UPHENO:0081700", - "GO:0009987", + "UPHENO:0020584", + "UPHENO:0069254", + "UPHENO:0000541", + "UPHENO:0075159", + "UPHENO:0068169", + "CHEBI:35605", + "UPHENO:0068495", + "CHEBI:33575", + "CHEBI:24651", + "UPHENO:0046286", + "HP:0003355", + "CHEBI:36587", + "UPHENO:0068091", + "HP:0031980", + "UPHENO:0051670", + "CHEBI:33709", + "UPHENO:0068040", + "CHEBI:33608", + "UPHENO:0068144", + "UPHENO:0068538", + "UPHENO:0080658", "UPHENO:0000543", - "UPHENO:0050116", - "UPHENO:0076718", - "HP:0004275", - "UPHENO:0087501", - "UPHENO:0002844", + "HP:0003076", + "HP:0000002", + "HP:0033354", + "UPHENO:0068054", + "CHEBI:36962", + "CHEBI:25806", + "CHEBI:17234", + "CHEBI:35381", + "CHEBI:18133", + "HP:0034359", + "UPHENO:0051191", + "CHEBI:33917", + "HP:0011038", + "GO:0003008", + "GO:0003014", + "UPHENO:0051280", + "HP:0011036", + "CHEBI:33504", + "CHEBI:33694", + "UPHENO:0077821", + "CHEBI:36357", + "PR:000018263", + "CHEBI:33675", + "HP:0004379", + "HP:0000079", + "CHEBI:35352", + "HP:0100529", + "UPHENO:0068971", + "CHEBI:33695", + "GO:0001503", + "CHEBI:50860", + "HP:0012379", + "BFO:0000020", + "UPHENO:0012541", + "UPHENO:0068491", + "CHEBI:36360", + "PR:000064867", + "UPHENO:0046362", + "UPHENO:0081777", + "UBERON:0009773", + "HP:6000531", + "UPHENO:0068352", + "CHEBI:23367", + "UPHENO:0076289", "HP:0001324", - "UBERON:0034923", - "UBERON:0002390", - "UPHENO:0079876", - "UBERON:0002544", + "UPHENO:0002442", + "PATO:0000001", + "UPHENO:0081423", + "UPHENO:0002642", + "UPHENO:0051801", + "CHEBI:60911", + "HP:0000001", + "GO:0070293", + "UBERON:0004111", + "UPHENO:0068511", + "BFO:0000002", + "CHEBI:60004", + "CHEBI:33302", + "UBERON:8450002", + "UPHENO:0082542", + "HP:0000119", "UPHENO:0002964", - "UPHENO:0050021", - "UBERON:0003620", - "UBERON:5102389", - "UPHENO:0086700", - "UPHENO:0031839", - "UPHENO:0078606", - "UPHENO:0002896", - "HP:0010628", - "HP:0045060", - "HP:0012130", - "UBERON:0005881", - "UPHENO:0050620", - "UBERON:5002544", - "UBERON:0000475", - "UBERON:0005451", - "GO:0032501", - "HP:0040068", - "UBERON:0015061", - "GO:0008150", - "HP:0002813", - "UBERON:0000033", - "UBERON:0001460", - "HP:0011799", - "UPHENO:0084761", - "UBERON:0000153", - "UBERON:0002513", - "UBERON:0010707", - "UBERON:0000010", - "UBERON:0000026", - "HP:0003220", - "UBERON:0010959", - "CL:0000457", - "UBERON:0004708", - "UBERON:0012475", - "UBERON:0002371", - "UBERON:0001474", - "UPHENO:0080114", - "UBERON:0003221", - "UPHENO:0046505", - "HP:0011927", - "UPHENO:0076772", - "UPHENO:0005116", - "UPHENO:0002240", + "UBERON:0001088", + "BFO:0000004", + "UPHENO:0080352", + "UBERON:0000179", + "UPHENO:0046284", + "HP:0012072", + "HP:0032943", + "CHEBI:36963", + "UPHENO:0051186", + "UPHENO:0080555", + "UPHENO:0024906", + "HP:0001939", + "UPHENO:0001002", + "CHEBI:60242", + "BFO:0000003", + "CHEBI:59999", "PR:000050567", - "UPHENO:0087339", - "UPHENO:0000541", - "UPHENO:0084448", - "HP:0005918", - "UPHENO:0075195", - "GO:0071704", - "UPHENO:0088166", - "UBERON:0002398", - "UPHENO:0084763", - "UBERON:0001440", - "UPHENO:0069254", - "UBERON:0004710", - "UBERON:0008785", - "HP:0011844", - "HP:0001877", - "UPHENO:0011498", - "UBERON:0010912", - "UBERON:0002389", - "UBERON:0006717", - "UPHENO:0002948", - "UPHENO:0002708", - "UPHENO:0002905", - "UPHENO:0068971", - "HP:0045010", - "UBERON:0004381", - "UBERON:0012140", - "UBERON:5106048", - "UBERON:0001463", - "UBERON:0012139", - "HP:0009381", - "CL:0001035", - "UPHENO:0086635", - "UBERON:0012141", - "UPHENO:0080126", - "UPHENO:0075159", - "UBERON:0008229", + "UPHENO:0082835", + "CHEBI:64709", + "UPHENO:0079536", + "UBERON:0003914", + "HP:0001942", + "UBERON:0011216", + "UBERON:0001434", + "UBERON:0005090", + "UBERON:0000468", + "UPHENO:0034253", + "HP:0000093", + "GO:0055062", + "UBERON:0002417", + "CHEBI:22314", + "GO:0008152", + "UPHENO:0086128", + "UPHENO:0049587", + "UPHENO:0051635", + "UBERON:0000383", + "UPHENO:0001005", + "CHEBI:15693", + "UPHENO:0081544", + "HP:0020129", + "UPHENO:0046348", + "UPHENO:0066927", + "HP:0000083", + "HP:0011804", + "GO:0032501", + "GO:0050801", + "UBERON:0001015", + "CHEBI:37247", + "UPHENO:0051640", + "UPHENO:0081546", + "CHEBI:51143", + "HP:0004360", + "UPHENO:0034391", + "HP:0000118", + "UPHENO:0068094", + "UBERON:0000178", + "UPHENO:0002536", "UPHENO:0076692", - "UPHENO:0046624", - "UBERON:5001463", - "UBERON:0001577", - "UPHENO:0086005", + "HP:0011849", + "UPHENO:0048707", + "UBERON:0001231", + "UPHENO:0068110", + "UBERON:0003103", + "UPHENO:0002320", + "UPHENO:0084653", + "UPHENO:0001001", + "UBERON:0000062", + "UPHENO:0084654", + "UPHENO:0034351", + "UPHENO:0068292", + "UBERON:0001474", + "UPHENO:0082875", + "UBERON:0002100", + "CHEBI:28358", + "UPHENO:0076703", + "UPHENO:0015280", + "UPHENO:0081548", + "UBERON:0002204", + "UPHENO:0082539", + "CHEBI:33582", + "UBERON:0000465", + "UPHENO:0082538", + "UBERON:0000489", + "BFO:0000001", + "CHEBI:24833", + "UBERON:0001008", + "UPHENO:0082834", + "BFO:0000040", + "HP:0004349", + "GO:0042592", + "HP:0004348", + "HP:0002749", + "CHEBI:23906", + "HP:0003011", + "HP:0012337", + "UBERON:0006314", + "CHEBI:36080", + "CHEBI:50047", + "UPHENO:0068089", + "BFO:0000015", + "UBERON:0000174", + "HP:0000924", + "HP:0003330", + "UPHENO:0078554", + "UPHENO:0002332", + "CHEBI:33259", + "HP:0011277", + "UPHENO:0046283", + "UBERON:0001630", + "HP:0033127", + "CHEBI:33285", + "UPHENO:0001003", + "HP:0003155", + "UPHENO:0080556", + "HP:0002900", + "UBERON:0000467", + "UBERON:0004765", + "UPHENO:0081550", + "UPHENO:0080659", + "UPHENO:0051668", + "CHEBI:33579", + "HP:0003110", + "CHEBI:36359", + "GO:0008150", + "UPHENO:0051763", + "HP:0011842", + "UPHENO:0075696", + "HP:0001871", + "UBERON:0001062", + "CHEBI:72695", + "UPHENO:0068064", + "CHEBI:26079", + "CHEBI:33839", + "UPHENO:0082943", + "UPHENO:0075666", + "UPHENO:0002411", + "UBERON:0004120", + "HP:0002148", + "CHEBI:33304", + "HP:0010930", + "UBERON:0013702", + "UPHENO:0050080", + "GO:0098771", + "UPHENO:0004459", + "UPHENO:0080351", + "UPHENO:0076286", + "CHEBI:33250", + "UBERON:0002113", + "HP:0032180", + "CHEBI:25367", + "HP:0011042", + "CHEBI:26082", + "UPHENO:0049904", + "UPHENO:0066739", + "UPHENO:0075902", + "GO:0048878", + "UPHENO:0051937", + "UBERON:0002193", + "UPHENO:0051960", + "CHEBI:24870", + "UBERON:0000064", + "CHEBI:33241", + "HP:0001507", + "CHEBI:37577", + "HP:0012591", + "HP:0001510", + "HP:0003109", + "HP:0034684", + "CHEBI:24867", + "CHEBI:33256", + "UBERON:0000025", + "UPHENO:0051739", + "UPHENO:0079824", + "UPHENO:0051900", + "UPHENO:0049628", + "CHEBI:33238", + "UPHENO:0052008", + "HP:0040156", + "UBERON:0000463", + "CHEBI:26020", + "UPHENO:0034217", + "UBERON:0011676", + "UBERON:0001285", + "UBERON:0013701", + "UBERON:0009569", + "UPHENO:0082543", + "UBERON:0000483", + "CHEBI:24431", + "HP:0003111", + "CHEBI:33318", + "PR:000003968", + "UBERON:0000479", + "UPHENO:0051686", + "CHEBI:36915", + "UBERON:0000475", + "HP:0012211", + "UBERON:0015212", + "CHEBI:78616", + "HP:0000077", + "HP:0001992", + "UBERON:0010000", + "UPHENO:0051709", + "UBERON:0002390", + "UPHENO:0066943", + "UPHENO:0049709", + "HP:0004322", + "CHEBI:26216", + "UBERON:0004211", + "UBERON:0007684", + "UBERON:0004122", + "HP:0010935", + "UBERON:0005172", + "HP:0003126", + "HP:0002748", + "UPHENO:0002832", + "UPHENO:0002803", + "CHEBI:16646", + "HP:0000124", + "UBERON:0000916", + "UBERON:0005173", + "UPHENO:0051847", + "UBERON:0005177", + "UPHENO:0002816", + "UBERON:0011143", + "UBERON:0004819", + "HP:0012599", + "CHEBI:33296", + "PR:000000001", + "UPHENO:0034199", + "UPHENO:0051898", + "UPHENO:0081547", + "CHEBI:25414", + "UPHENO:0068058", + "CHEBI:33674", + "UPHENO:0051930", + "CHEBI:33559", + "CHEBI:25213", + "CHEBI:26217", + "UPHENO:0051645", + "HP:0010929", + "UPHENO:0051958", + "UPHENO:0052116", + "CHEBI:24835", + "CHEBI:36586", + "CHEBI:33521", + "CHEBI:36914", + "UPHENO:0034438", + "UBERON:0006555", + "GO:0055080", + "UBERON:0000061", + "CHEBI:36916", + "UPHENO:0079822", + "HP:0003648", + "HP:0001941", + "UPHENO:0051804", + "CHEBI:29103", + ], + "has_phenotype_closure_label": [ + "Renal insufficiency", + "non-functional kidney", + "non-functional anatomical entity", + "carboxamide", + "increased level of protein polypeptide chain in urine", + "abnormal independent continuant protein polypeptide chain level", + "Low-molecular-weight proteinuria", + "amide", + "increased level of protein polypeptide chain in independent continuant", + "Abnormal urine protein level", + "peptide", + "growth", + "Growth delay", + "Abnormality of body height", + "decreased size of the anatomical entity in the independent continuant", + "Growth abnormality", + "delayed growth", + "abnormal anatomical entity morphology in the independent continuant", + "decreased height of the multicellular organism", + "increased level of carboxylic acid in independent continuant", + "carboxylic acid", + "molecule", + "increased level of amino acid in urine", + "hydroxides", + "organic molecule", + "carbonyl compound", + "abnormal size of anatomical entity", + "abnormal amino acid level", + "Organic aciduria", + "abnormal urine amino acid level", + "increased level of organic acid in urine", + "increased level of nitrogen molecular entity in independent continuant", + "amino acid", + "Elevated urinary carboxylic acid", + "increased level of organic acid in independent continuant", + "increased level of glucose in independent continuant", + "Abnormal urine metabolite level", + "carbohydrates and carbohydrate derivatives", + "increased level of monosaccharide in urine", + "oxygen molecular entity", + "organooxygen compound", + "Abnormal urinary organic compound level", + "abnormal independent continuant glucose level", + "aldohexose", + "increased level of organic molecular entity in independent continuant", + "glucose", + "aldose", + "hexose", + "abnormal urine glucose level", + "increased level of monosaccharide in independent continuant", + "abnormal independent continuant carbohydrate level", + "monosaccharide", + "abnormal renal system process", + "renal absorption", + "abnormal renal absorption", + "abnormal independent continuant amino acid level", + "renal system process", + "organic molecular entity", + "protein-containing molecular entity", + "Decreased anatomical entity mass density", + "decreased level of chemical entity in independent continuant", + "Abnormal blood ion concentration", + "increased level of alkaline phosphatase, tissue-nonspecific isozyme", + "main group element atom", + "pnictogen molecular entity", + "abnormality of muscle organ physiology", + "increased level of protein", + "increased level of glucose in urine", + "body proper", + "decreased muscle organ strength", + "polypeptide", + "Abnormality of bone mineral density", + "anatomical structure", + "anatomical conduit", + "abdominal segment of trunk", + "musculature of body", + "monoatomic cation", + "Abnormality of the upper urinary tract", + "chemical substance", + "abnormal independent continuant potassium atom level", + "increased independent continuant base level", + "muscle organ", + "anatomical entity dysfunction in independent continuant", + "rac-lactic acid", + "increased level of rac-lactic acid in urine", + "increased level of chemical entity in urine", + "increased level of chemical entity in bodily fluid", + "decreased anatomical entity strength", + "mixture", + "epithelial tube", + "organic oxo compound", + "excreta", + "abnormal acid bodily fluid level", + "monoatomic monocation", + "Abnormality of the urinary system", + "Aciduria", + "abnormal blood potassium atom level", + "abnormality of anatomical entity height", + "metal atom", + "increased level of rac-lactic acid in independent continuant", + "skeletal element", + "cavitated compound organ", + "delayed biological_process", + "oxoacid", + "Osteomalacia", + "chemical entity", + "increased independent continuant acid level", + "Abnormality of alkaline phosphatase level", + "increased independent continuant role level", + "increased bodily fluid acid level", + "abnormal blood monoatomic ion level", + "decreased level of potassium atom in blood", + "Metabolic acidosis", + "homeostatic process", + "protein", + "phenotype by ontology source", + "decreased level of chemical entity in blood", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "abnormal independent continuant nitrogen molecular entity level", + "Lacticaciduria", + "alkali metal molecular entity", + "entity", + "Phenotypic abnormality", + "Hyperphosphaturia", + "abnormal anatomical entity mass density", + "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", + "epithelium", + "abnormality of anatomical entity physiology", + "abnormally decreased functionality of the nephron tubule", + "Abnormal urine pH", + "increased level of chemical entity in independent continuant", + "Abnormal bone structure", + "anatomical system", + "potassium(1+)", + "All", + "abnormal growth", + "independent continuant", + "abnormal anatomical entity", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "abnormal urine chemical entity level", + "monoatomic ion homeostasis", + "decreased height of the anatomical entity", + "abnormal metabolite independent continuant level", + "abnormal size of multicellular organism", + "bone element", + "Abnormal renal tubular resorption", + "anatomical entity", + "multicellular anatomical structure", + "heteroorganic entity", + "abnormal bone element mass density", + "decreased role independent continuant level", + "Muscle weakness", + "organ part", + "abnormal musculature", + "abnormal skeletal system", + "increased level of phosphate in independent continuant", + "abnormal potassium atom level", + "abnormal renal system", + "process", + "Abnormality of acid-base homeostasis", + "tube", + "potassium molecular entity", + "genitourinary system", + "atom", + "carbohydrate", + "increased bodily fluid role level", + "biological_process", + "renal tubule", + "carbon group molecular entity", + "Abnormality of renal excretion", + "abnormal independent continuant chemical entity level", + "protein polypeptide chain", + "continuant", + "nephron", + "amino acid chain", + "tissue", + "Abnormal circulating enzyme concentration or activity", + "organism subdivision", + "urine", + "material entity", + "organic amino compound", + "Acidosis", + "increased level of chemical entity", + "inorganic cation", + "Glycosuria", + "information biomacromolecule", + "abdominal segment element", + "Abnormal bone ossification", + "decreased size of the anatomical entity", + "blood", + "racemate", + "phosphate ion homeostasis", + "inorganic ion", + "abnormal genitourinary system", + "Aminoaciduria", + "organ system subdivision", + "primary amide", + "elemental molecular entity", + "nitrogen molecular entity", + "renal system", + "hydrogen molecular entity", + "nephron tubule", + "phenotype", + "Abnormality of the genitourinary system", + "Reduced bone mineral density", + "inorganic ion homeostasis", + "Impaired renal tubular reabsorption of phosphate", + "multicellular organism", + "hematopoietic system", + "abnormal monoatomic cation homeostasis", + "alkaline phosphatase, tissue-nonspecific isozyme", + "nephron epithelium", + "polyatomic entity", + "increased level of amino acid in independent continuant", + "Abnormality of the musculature", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "abnormal role urine level", + "abnormal chemical entity level", + "organochalcogen compound", + "Abnormal muscle physiology", + "Abnormal homeostasis", + "Abnormal enzyme concentration or activity", + "p-block molecular entity", + "biomacromolecule", + "Abnormality of urine homeostasis", + "upper urinary tract", + "occurrent", + "organ", + "skeletal system", + "Abnormality of the urinary system physiology", + "abnormal blood chemical entity level", + "macromolecule", + "material anatomical entity", + "muscle structure", + "metabolic process", + "bodily fluid", + "abnormal urine phosphate level", + "Abnormality of metabolism/homeostasis", + "abnormal monoatomic ion homeostasis", + "abnormal role blood level", + "organism substance", + "abnormality of kidney physiology", + "Elevated circulating alkaline phosphatase concentration", + "main group molecular entity", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "chemical homeostasis", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "decreased level of potassium atom in independent continuant", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "Abnormality of the skeletal system", + "abnormal independent continuant phosphate level", + "abnormal chemical homeostasis", + "abnormal protein level", + "Abnormality of the musculoskeletal system", + "abnormal phosphate ion homeostasis", + "abdomen element", + "haemolymphatic fluid", + "ion", + "abnormal homeostatic process", + "multicellular organismal process", + "abnormal blood phosphate level", + "Hypophosphatemia", + "monoatomic ion", + "abnormal role bodily fluid level", + "abnormal biological_process", + "potassium atom", + "Proteinuria", + "abnormal skeletal system morphology", + "protein-containing material entity", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "abnormality of renal system physiology", + "quality", + "phosphoric acid derivative", + "trunk", + "phosphorus molecular entity", + "heteroatomic molecular entity", + "abnormal acid independent continuant level", + "monoatomic entity", + "abnormal phenotype by ontology source", + "subdivision of trunk", + "organic acid", + "ossification", + "Abnormal circulating metabolite concentration", + "main body axis", + "excretory system", + "abnormal independent continuant monoatomic ion level", + "musculoskeletal system", + "abnormal upper urinary tract", + "uriniferous tubule", + "subdivision of organism along main body axis", + "phosphorus oxoacids and derivatives", + "Abnormal blood phosphate concentration", + "kidney epithelium", + "compound organ", + "abdomen", + "Renal tubular dysfunction", + "abnormal kidney", + "trunk region element", + "Abnormality of the kidney", + "lateral structure", + "chalcogen molecular entity", + "Abnormal renal physiology", + "Short stature", + "inorganic molecular entity", + "abnormally decreased functionality of the anatomical entity", + "excretory tube", + "kidney", + "oxoacid derivative", + "increased level of phosphate in urine", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "musculature", + "decreased role blood level", + "abnormal role independent continuant level", + "metal cation", + "monovalent inorganic cation", + "s-block molecular entity", + "s-block element atom", + "Abnormal blood cation concentration", + "organonitrogen compound", + "abnormal independent continuant potassium(1+) level", + "abnormal blood potassium(1+) level", + "carbon oxoacid", + "Abnormal blood potassium concentration", + "abnormal multicellular organism chemical entity level", + "phosphate", + "alkali metal cation", + "elemental potassium", + "Hypokalemia", + "Abnormal blood monovalent inorganic cation concentration", + "monoatomic cation homeostasis", + "cation", + "alkali metal atom", + "hemolymphoid system", + "Rickets", + "abnormality of multicellular organism height", + "Abnormal urine carboxylic acid level", + "decreased level of chemical entity", + "abnormal phosphate level", + "system process", + ], + "has_phenotype_count": 16, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0030056", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 5", + "full_name": None, + "deprecated": None, + "description": None, + "xref": ["DOID:0080761", "GARD:16392", "OMIM:618913"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": [ + "FANCONI RENOTUBULAR SYNDROME 5", + "FRTS5", + "Fanconi Renotubular Syndrome, Acadian Variant", + "Fanconi renotubular syndrome 5", + ], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0002857", + "HP:0045051", + "HP:0002097", + "HP:0002148", + "HP:0002206", + "HP:0004912", + "HP:0004918", + "HP:0000093", + "HP:0003076", + "HP:0003355", + "HP:0005576", + "HP:0003774", + "HP:0000822", + "HP:0030078", + ], + "has_phenotype_label": [ + "Genu valgum", + "Decreased DLCO", + "Emphysema", + "Hypophosphatemia", + "Pulmonary fibrosis", + "Hypophosphatemic rickets", + "Hyperchloremic metabolic acidosis", + "Proteinuria", + "Glycosuria", + "Aminoaciduria", + "Tubulointerstitial fibrosis", + "Stage 5 chronic kidney disease", + "Hypertension", + "Lung adenocarcinoma", + ], + "has_phenotype_closure": [ + "HP:0100526", + "HP:0011793", + "HP:0002664", + "UBERON:0000477", + "UBERON:0034923", + "HP:0002597", + "UPHENO:0002678", + "UBERON:0002049", + "UBERON:0001009", + "UBERON:0000055", + "HP:0001626", + "HP:0000822", + "UBERON:0004535", + "UBERON:0001981", + "HP:0030972", + "HP:0012622", + "UPHENO:0086132", + "HP:0003774", + "HP:0012211", + "UPHENO:0076779", + "UBERON:0004819", + "HP:0012210", + "UBERON:0002113", + "UBERON:0011143", + "UPHENO:0076714", + "UBERON:0005173", + "UBERON:0000916", + "UBERON:0005172", + "UBERON:0000489", + "UBERON:0009773", 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"HP:0003111", + "CHEBI:24431", + "UPHENO:0079873", + "HP:0002206", + "UPHENO:0076740", + "UPHENO:0076294", + "HP:0001942", + "HP:0004348", + "UPHENO:0084653", + "HP:0003330", + "HP:0004918", + "UPHENO:0081547", + "HP:0012337", + "UBERON:0000170", + "UPHENO:0068089", + "UPHENO:0076289", + "CHEBI:72695", + "UPHENO:0068064", + "UBERON:0000483", + "UBERON:0002471", + "HP:0002979", + "UPHENO:0082543", ], "has_phenotype_closure_label": [ - "abnormal nerve", - "Abnormality of the peripheral nervous system", - "skeletal muscle organ, vertebrate", - "Abnormal nervous system morphology", - "abnormality of nervous system physiology", - "Abnormal peripheral nerve morphology by anatomical site", - "face", - "cranial or facial muscle", - "Abnormal nervous system physiology", - "Abnormality of facial musculature", - "paralysed cranial nerve", - "Abnormality of facial soft tissue", - "subdivision of head", - "gustatory system", - "nervous system", - "abnormal facial muscle", - "axial musculature", - "craniocervical region musculature", - "abnormal muscle organ morphology", - "Abnormal skeletal muscle morphology", - "abnormal musculature", - "neuron projection bundle", - "facial muscle", - "Abnormality of the musculature", - "facial nerve", - "cranial neuron projection bundle", - "decreased anatomical entity strength", - "Abnormal muscle physiology", - "abnormal facial nerve", - "obsolete cell", - "peripheral nervous system", - "musculature", - "abnormality of muscle organ physiology", - "multi cell part structure", - "decreased muscle organ strength", - "abnormal face", - "head", - "abnormal organelle organization", - "abnormal head morphology", - "forelimb endochondral element", - "vestibulo-auditory system", - "craniocervical region", - "biological_process", - "protein-containing material entity", - "subdivision of skeleton", - "abnormal cranial nerve morphology", - "decreased qualitatively sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "Abnormal ear physiology", - "nervous system process", - "body proper", - "Weakness of facial musculature", - "main body axis", - "Facial palsy", - "entire sense organ system", - "abnormal metabolic process", - "changed biological_process rate", - "abnormal ear", - "muscle organ", - "abnormality of ear physiology", - "abnormality of anatomical entity physiology", - "Hearing abnormality", - "abnormal sensory perception of sound", - "Abnormality of head or neck", - "paralysed anatomical entity", - "abnormal size of multicellular organism", - "growth", - "decreased size of the multicellular organism", - "delayed growth", - "Abnormality of body height", - "decreased height of the multicellular organism", - "abnormal DNA metabolic process", - "forelimb", - "abnormal chromatin organization", - "Abnormality of metabolism/homeostasis", - "Leukemia", - "Chromosomal breakage induced by crosslinking agents", - "multicellular organismal process", - "abnormal bone marrow cell morphology", - "manual digit phalanx endochondral element", - "regulation of macromolecule biosynthetic process", - "Abnormality of chromosome stability", - "Abnormal thumb morphology", - "regulation of biological process", - "decreased sensory perception of sound", - "organic substance metabolic process", - "decreased height of the anatomical entity", - "Abnormal leukocyte morphology", - "abnormal programmed DNA elimination by chromosome breakage", - "acropodium region", - "abnormal cellular metabolic process", - "regulation of cellular process", - "negative regulation of biological process", - "organic cyclic compound metabolic process", - "obsolete heterocycle metabolic process", - "obsolete cellular aromatic compound metabolic process", - "cellular component organization", - "continuant", - "regulation of macromolecule metabolic process", - "nucleobase-containing compound metabolic process", - "negative regulation of metabolic process", - "protein-containing complex organization", - "regulation of biosynthetic process", - "abnormal cellular process", - "regulation of gene expression", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "manual digit 1 phalanx", - "sensory system", - "chromatin organization", - "appendicular skeletal system", - "abnormal cellular component organization", - "biological regulation", - "organ system subdivision", - "process", - "regulation of cellular biosynthetic process", - "Abnormality of the ear", - "negative regulation of biosynthetic process", - "abnormal phalanx of manus morphology", - "sensory perception of sound", - "negative regulation of macromolecule metabolic process", - "negative regulation of cellular metabolic process", - "DNA metabolic process", - "Abnormal cranial nerve physiology", + "Neoplasm", + "Neoplasm of the respiratory system", + "Abnormality of the vasculature", + "cardiovascular system", + "blood vasculature", + "disconnected anatomical group", + "abnormal cardiovascular system", + "Hypertension", + "Abnormal systemic blood pressure", + "abnormal vasculature", + "Chronic kidney disease", + "Renal insufficiency", + "non-functional kidney", + "excretory tube", + "cavitated compound organ", + "Abnormal renal morphology", + "abdomen element", + "tissue", + "anatomical cluster", + "abnormal kidney epithelium morphology", + "Abnormality of the kidney", + "renal tubule", + "uriniferous tubule", + "nephron epithelium", + "Abnormal renal insterstitial morphology", + "abnormal kidney", + "abdominal segment of trunk", + "abdomen", + "Abnormality of the upper urinary tract", + "Abnormal nephron morphology", + "Increased blood pressure", + "Tubulointerstitial fibrosis", + "increased level of carboxylic acid in independent continuant", + "carboxylic acid", + "molecule", + "increased level of amino acid in urine", + "hydroxides", + "organic molecule", + "carbon oxoacid", + "carbonyl compound", + "abnormal independent continuant amino acid level", + "abnormal amino acid level", + "Abnormal urine pH", + "abnormal urine amino acid level", + "Abnormal renal tubule morphology", + "nephron tubule", + "hydrogen molecular entity", + "abnormal nephron tubule morphology", + "increased level of organic acid in urine", + "increased level of carboxylic acid in urine", + "amino acid", + "s-block molecular entity", + "oxoacid", + "increased level of organic acid in independent continuant", + "increased level of glucose in independent continuant", + "abnormal metabolite independent continuant level", + "carbohydrates and carbohydrate derivatives", + "Lung adenocarcinoma", + "increased level of monosaccharide in urine", + "Abnormal urinary organic compound level", + "glucose", + "aldose", + "hexose", + "abnormal urine glucose level", + "increased level of monosaccharide in independent continuant", + "abnormal independent continuant carbohydrate level", + "monosaccharide", + "Abnormal urine metabolite level", + "Abnormality of the cardiovascular system", + "Abnormality of the genitourinary system", + "carboxamide", + "organic amino compound", + "macromolecule", + "abnormal genitourinary system", + "abnormal independent continuant protein polypeptide chain level", + "Aciduria", + "Abnormality of the urinary system", + "oxygen molecular entity", + "abnormal independent continuant nitrogen molecular entity level", + "abnormal renal system", + "heteroorganic entity", + "organooxygen compound", + "abnormal role urine level", + "vascular system", + "increased level of chemical entity in urine", + "increased level of protein polypeptide chain in independent continuant", + "upper urinary tract", + "Abnormal tubulointerstitial morphology", + "Abnormality of urine homeostasis", + "organic molecular entity", + "urine", + "Abnormality of the urinary system physiology", + "Abnormal urine protein level", + "organic oxo compound", + "excreta", + "increased independent continuant base level", + "renal system", + "genitourinary system", + "abnormal shape of continuant", + "nitrogen molecular entity", + "abnormal limb morphology", + "abnormal anatomical entity, curved", + "abnormal anatomical entity morphology in the independent continuant", + "zone of bone organ", + "appendicular skeleton", + "pelvic complex", + "curvature anatomical entity in independent continuant", + "Abnormality of limbs", + "Abnormality of limb bone morphology", + "nephron", + "curved long bone", + "occurrent", "organ", - "protein-DNA complex organization", - "Anemia", - "nucleic acid metabolic process", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "Duplication of thumb phalanx", - "individual digit of digitopodial skeleton", - "digit 1 digitopodial skeleton", - "abnormality of anatomical entity height", - "skeleton of manual acropodium", - "acropodial skeleton", - "decreased length of anatomical entity in independent continuant", - "phalanx of manus", - "autopod bone", - "autopod endochondral element", - "skeleton of pectoral complex", - "skeleton of digitopodium", - "structure with developmental contribution from neural crest", - "Abnormal long bone morphology", - "programmed DNA elimination", - "abnormal skeletal system morphology", - "manual digitopodium bone", - "Duplication of hand bones", - "macromolecule metabolic process", - "bone of pectoral complex", - "abnormal bone of pectoral complex morphology", - "nerve", - "limb long bone", - "limb skeleton subdivision", - "phalanx endochondral element", - "decreased length of anatomical entity", - "sensory perception", - "manual digit 1 digitopodial skeleton", + "Stage 5 chronic kidney disease", + "mesoderm-derived structure", + "zone of long bone", + "Hyperchloremic metabolic acidosis", + "Emphysema", + "skeletal system", + "blood", "long bone", - "myeloid cell", - "abnormal phalanx morphology", - "subdivision of organism along appendicular axis", - "abnormal anatomical entity morphology in the skeleton of manus", - "autopodial skeleton", - "Abnormality of thumb phalanx", - "Abnormal finger phalanx morphology", - "paired limb/fin skeleton", - "motile cell", - "abnormal anatomical entity", - "paired limb/fin", - "serotonin secreting cell", - "decreased biological_process", - "Abnormal appendicular skeleton morphology", - "delayed biological_process", - "abnormal anatomical entity morphology in the manus", - "Abnormality of limbs", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "programmed DNA elimination by chromosome breakage", - "abnormal bone marrow morphology", + "phosphate ion homeostasis", + "abdominal segment element", + "Glycosuria", + "Abnormal bone ossification", "organism subdivision", - "cranial nerve", - "pectoral appendage", - "abnormal nervous system", - "lateral structure", - "limb", - "abnormal anatomical entity morphology in the pectoral complex", - "decreased size of the anatomical entity in the pectoral complex", - "cellular process", - "manual digit 1", - "multi-limb segment region", - "abnormal craniocervical region", - "decreased qualitatively biological_process", - "immune system", - "manual digit plus metapodial segment", - "digit 1 plus metapodial segment", - "Abnormality of the seventh cranial nerve", - "platelet", - "obsolete nitrogen compound metabolic process", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "Abnormality of the nervous system", - "Bone marrow hypocellularity", - "Short finger", - "abnormal long bone morphology", - "skeletal musculature of head", - "abnormal digit morphology", - "Phenotypic abnormality", - "cellular component organization or biogenesis", - "Abnormality of the face", - "non-connected functional system", - "abnormal leukocyte morphology", - "abnormal cell morphology", - "limb bone", - "nucleate cell", - "entity", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Abnormal cellular phenotype", - "pectoral appendage skeleton", - "oxygen accumulating cell", - "musculature of face", - "bone of free limb or fin", - "decreased size of the anatomical entity in the independent continuant", - "abnormal arm", - "Abnormal digit morphology", - "aplasia or hypoplasia of manual digit", - "autopodial extension", - "anterior region of body", - "Abnormal peripheral nervous system morphology", - "quality", - "aplasia or hypoplasia of anatomical entity", - "erythrocyte", + "respiratory tract", + "Abnormal respiratory system physiology", + "homeostatic process", + "organochalcogen compound", + "Abnormal homeostasis", + "lower limb segment", + "abnormal skeletal joint morphology", + "abnormal independent continuant glucose level", + "abnormal hindlimb zeugopod, curved", + "abnormal anatomical entity morphology in the pelvic complex", + "phenotype by ontology source", + "amide", + "Abnormality of limb bone", + "anatomical entity", + "material entity", + "Abnormal appendicular skeleton morphology", + "Aminoaciduria", + "organ system subdivision", + "increased level of nitrogen molecular entity in independent continuant", + "abnormal diaphysis morphology in the independent continuant", + "Proteinuria", + "abnormal skeletal system morphology", + "protein-containing material entity", + "hindlimb", + "epithelium", + "system", + "subdivision of tube", + "abnormal anatomical entity", + "increased level of protein polypeptide chain in urine", + "limb segment", + "Abnormal joint morphology", + "increased level of amino acid in independent continuant", + "thoracic segment of trunk", + "abnormal anatomical entity morphology in the appendage girdle complex", + "bone of appendage girdle complex", + "Non-small cell lung carcinoma", + "skeletal joint", "abnormal limb bone morphology", - "Abnormal platelet count", - "abnormal forelimb morphology", - "abnormal limb bone", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "Abnormality of the upper limb", - "abnormally decreased number of hematopoietic cell", + "aldohexose", + "zone of organ", + "abnormal long bone morphology", + "organonitrogen compound", + "appendage", + "tube", + "Abnormality of acid-base homeostasis", + "organ part", + "abnormal blood phosphate level", + "multicellular organismal process", + "limb skeleton subdivision", "paired limb/fin segment", - "Abnormal cell morphology", - "manus", - "decreased length of manual digit 1", - "Growth abnormality", - "skeleton of limb", - "segment of autopod", + "Abnormality of the knee", + "abnormal lung morphology", + "subdivision of organism along appendicular axis", + "abnormal skeletal system", + "Abnormality of the lower limb", + "curved anatomical entity in independent continuant", "abnormal appendicular skeleton morphology", + "abnormal phenotype by ontology source", + "subdivision of trunk", + "abnormal renal system morphology", + "abnormal hindlimb joint", + "All", + "anatomical collection", + "vessel", + "diaphysis", + "abnormal leg", + "non-functional anatomical entity", + "thoracic segment organ", + "subdivision of skeleton", + "endochondral bone", + "articular system", + "Hypophosphatemia", + "leg", + "monoatomic ion", + "chemical homeostasis", + "Genu valgum", + "limb joint", + "limb bone", + "shape anatomical entity in independent continuant", + "phenotype", + "abnormal upper urinary tract", + "curvature anatomical entity", "musculoskeletal system", - "decreased size of the anatomical entity", - "autopod region", - "Abnormal erythroid lineage cell morphology", - "manual digit 1 or 5", - "abnormal hematopoietic cell morphology", - "abnormal limb morphology", - "Abnormal platelet morphology", - "abnormally decreased number of platelet", - "system", - "subdivision of organism along main body axis", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the hand", - "Aplasia/hypoplasia of the extremities", - "digit 1", - "abnormal head", - "Short thumb", - "bone cell", - "abnormal autopod region morphology", + "material anatomical entity", + "abnormal knee morphology", + "Abnormal respiratory system morphology", + "shape anatomical entity", + "skeleton of limb", + "Abnormal pulmonary interstitial morphology", + "vasculature", + "Abnormal long bone morphology", + "hindlimb zeugopod", + "Abnormal urine carboxylic acid level", + "decreased level of chemical entity", + "abnormal phosphate level", + "subdivision of skeletal system", + "entity", + "curved hindlimb zeugopod", + "kidney", + "articulation", + "blood vessel", + "multi-limb segment region", + "abnormal diaphysis morphology", + "lateral structure", + "anatomical structure", + "Bowing of the long bones", + "anatomical conduit", + "polypeptide", "abnormal limb", - "abnormal sensory perception", - "abnormality of cranial nerve physiology", - "Abnormal hand morphology", - "abnormal manual digit morphology in the independent continuant", - "musculature of body", - "sensory perception of mechanical stimulus", - "Growth delay", - "forelimb skeleton", - "endochondral bone", - "blood cell", - "erythroid lineage cell", - "abnormal size of anatomical entity", - "abnormal biological_process", - "Abnormal cellular physiology", - "abnormal immune system", - "abnormal nitrogen compound metabolic process", - "appendage girdle complex", - "limb segment", + "Abnormality of bone mineral density", + "endochondral element", + "hindlimb joint", + "trunk", + "oxoacid derivative", + "Abnormality of the calf", + "Hyperchloremic acidosis", + "Abnormal bone structure", + "Abnormal renal physiology", + "chalcogen molecular entity", + "abnormal knee", + "abnormal anatomical entity mass density", + "decreased level of chemical entity in blood", + "shape hindlimb zeugopod", + "Phenotypic abnormality", + "Elevated urinary carboxylic acid", "skeleton", - "manus bone", - "sense organ", - "subdivision of skeletal system", - "abnormal peripheral nervous system morphology", - "bone marrow", - "secretory cell", - "arm", - "organelle organization", - "hematopoietic cell", - "Abnormal cranial nerve morphology", - "skeletal musculature", - "decreased length of digit", - "manual digit", - "muscle structure", - "Abnormality of the head", - "Abnormal upper limb bone morphology", - "skeletal element", - "All", - "appendicular skeleton", - "bone of appendage girdle complex", - "Abnormal cellular immune system morphology", - "manual digit 1 plus metapodial segment", - "digit plus metapodial segment", - "abnormal platelet morphology", - "decreased length of manual digit", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormality of multiple cell lineages in the bone marrow", - "anatomical collection", - "occurrent", - "skeleton of manual digitopodium", - "digit", - "Abnormality of the skeletal system", - "abnormal anatomical entity morphology in the independent continuant", - "segment of manus", - "negative regulation of cellular process", - "hematopoietic system", - "material entity", - "abnormal blood cell morphology", - "abnormal nervous system morphology", - "Cranial nerve paralysis", - "abnormal cell", - "bone element", - "manual digit bone", - "ear", "Neoplasm by anatomical site", - "Short stature", - "Abnormality of limb bone", - "Aplasia/hypoplasia involving bones of the extremities", - "regulation of metabolic process", - "abnormal anatomical entity length", - "abnormal number of anatomical enitites of type cell", - "abnormal craniocervical region morphology", - "Thrombocytopenia", - "pectoral complex", - "Abnormality of the musculoskeletal system", - "Short digit", - "abnormal number of anatomical enitites of type myeloid cell", - "manual digit digitopodial skeleton", - "abnormally decreased number of cell", - "biogenic amine secreting cell", - "abnormal immune system morphology", - "Hematological neoplasm", - "Aplasia/Hypoplasia of fingers", - "abnormally decreased number of anatomical entity", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "phenotype", - "Abnormal leukocyte count", - "metabolic process", - "nerve of head region", - "Neoplasm", - "abnormal bone marrow cell", - "system process", - "manual digit 1 phalanx endochondral element", - "skeletal system", - "abnormal limb long bone morphology", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal primary metabolic process", - "abnormal number of anatomical enitites of type anatomical entity", - "obsolete cellular nitrogen compound metabolic process", - "abnormal erythroid lineage cell morphology", - "Duplication of phalanx of hand", - "tissue", - "abnormal manual digit morphology in the manus", - "abnormal phenotype by ontology source", - "bone marrow cell", - "abnormal manus", - "leukocyte", - "abnormality of multicellular organism height", - "anatomical system", + "p-block molecular entity", + "abnormality of cardiovascular system physiology", + "limb", + "curved anatomical entity", + "paired limb/fin", + "bone element", + "Renal fibrosis", + "abnormal hindlimb morphology", + "independent continuant", + "multicellular anatomical structure", + "posterior region of body", + "Metabolic acidosis", + "zeugopod", + "skeletal element", + "appendage girdle complex", + "abnormal hindlimb zeugopod morphology", "limb endochondral element", - "anatomical entity", - "digitopodium region", + "bone of free limb or fin", + "increased level of organic molecular entity in independent continuant", + "abnormal limb bone", + "shape long bone", + "lung fibrosis", + "Organic aciduria", + "Abnormal diaphysis morphology", + "Abnormal DLCO", + "abnormal anatomical entity morphology", "specifically dependent continuant", - "abnormally decreased number of myeloid cell", - "abnormal blood cell", - "abnormal growth", - "eukaryotic cell", - "Abnormality of thrombocytes", - "forelimb bone", - "Hearing impairment", - "endochondral element", - "Chromosome breakage", - "digit 1 or 5", - "Abnormality of limb bone morphology", - "forelimb long bone", - "abnormal manus morphology", - "cell", - "phenotype by ontology source", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormal myeloid cell morphology", - "craniocervical muscle", - "negative regulation of gene expression", - "digitopodium bone", - "abnormal number of anatomical enitites of type platelet", - "Acute leukemia", - "abnormal skeletal system", - "disconnected anatomical group", - "appendage", - "material anatomical entity", - "Pancytopenia", - "aplasia or hypoplasia of skeleton", - "cranial muscle", - "independent continuant", - "manual digitopodium region", - "abnormal peripheral nervous system", - "Abnormal immune system morphology", + "abnormal urine chemical entity level", + "monoatomic ion homeostasis", + "Abnormal knee morphology", + "abnormality of respiratory system physiology", + "polyatomic entity", + "epithelial tube", + "respiratory system", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "Abnormality of the respiratory system", + "abnormal respiratory system", + "abnormality of anatomical entity physiology", + "lower respiratory tract", + "Abnormality of lower limb joint", + "anatomical system", + "Abnormal lung morphology", + "haemolymphatic fluid", + "subdivision of organism along main body axis", + "Bowing of the legs", + "Abnormality of the skeletal system", + "abnormal independent continuant phosphate level", + "lung", + "abnormal kidney morphology", + "main body axis", + "organic acid", + "abnormal hindlimb zeugopod", + "ossification", + "Abnormal circulating metabolite concentration", + "pelvic appendage", + "endoderm-derived structure", + "pair of lungs", + "abnormal respiratory system morphology", + "viscus", + "increased level of glucose in urine", + "Decreased DLCO", + "body proper", + "trunk region element", + "knee", + "Hypophosphatemic rickets", + "respiratory airway", + "multicellular organism", + "hematopoietic system", + "thoracic cavity element", + "abnormal monoatomic ion homeostasis", + "anatomical entity fibrosis", + "Abnormality of metabolism/homeostasis", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "abnormal nephron morphology", + "Rickets", + "multi organ part structure", "hemolymphoid system", - "Muscle weakness", - "anucleate cell", - "abnormal digit", - "Abnormality of bone marrow cell morphology", - "Abnormal skeletal morphology", - "primary metabolic process", - "abnormal anatomical entity morphology", - "Abnormality of the immune system", + "abnormal bone element mass density", + "appendicular skeletal system", + "abnormal chemical entity level", + "process", + "carbohydrate", + "biological_process", + "increased bodily fluid role level", + "abnormal role independent continuant level", + "inorganic ion homeostasis", + "Reduced bone mineral density", + "abnormal chemical homeostasis", + "pnictogen molecular entity", + "Abnormality of the musculoskeletal system", + "abnormal phosphate ion homeostasis", + "metabolic process", + "bodily fluid", + "abnormal blood monoatomic ion level", + "respiration organ", + "increased bodily fluid acid level", + "abnormal blood chemical entity level", + "monoatomic entity", + "abnormal acid independent continuant level", + "organism substance", + "kidney epithelium", + "phosphorus oxoacids and derivatives", + "compound organ", + "Abnormal blood phosphate concentration", + "abnormal independent continuant chemical entity level", + "Pulmonary fibrosis", + "carbon group molecular entity", + "primary amide", + "elemental molecular entity", + "phosphorus oxoacid derivative", + "decreased level of phosphate in blood", + "ion", + "Abnormality on pulmonary function testing", + "proximo-distal subdivision of respiratory tract", + "abnormal homeostatic process", + "abnormal role bodily fluid level", + "abnormal biological_process", + "molecular entity", "Abnormality of blood and blood-forming tissues", - "anatomical structure", - "Aplasia/hypoplasia involving the skeleton", - "abnormal hematopoietic system morphology", - "Acute myeloid leukemia", - "Duplication of bones involving the upper extremities", - "abnormal hematopoietic system", - "mesoderm-derived structure", - "cellular metabolic process", - "upper limb segment", - "phalanx", - "multicellular organism", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal platelet", - "regulation of cellular metabolic process", - "abnormal myeloid cell morphology", + "Neoplasm of the lung", + "abnormality of renal system physiology", + "quality", + "phosphoric acid derivative", + "phosphorus molecular entity", + "decreased level of chemical entity in independent continuant", + "Abnormal cardiovascular system physiology", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "paired limb/fin skeleton", + "heteroatomic molecular entity", + "chemical entity", + "increased independent continuant acid level", + "phosphate", + "abnormal multicellular organism chemical entity level", + "abnormality of kidney physiology", + "main group molecular entity", + "Decreased bone element mass density", + "abnormal acid bodily fluid level", + "Acidosis", + "increased level of chemical entity in independent continuant", + "increased level of chemical entity in bodily fluid", + "increased level of chemical entity", + "increased independent continuant role level", + "peptide", + "continuant", + "protein polypeptide chain", + "circulatory system", + "abnormal independent continuant monoatomic ion level", + "excretory system", ], - "has_phenotype_count": 11, + "has_phenotype_count": 14, + "highlight": None, + "score": None, + }, + { + "id": "HP:0001994", + "category": "biolink:PhenotypicFeature", + "name": "Renal Fanconi syndrome", + "full_name": None, + "deprecated": None, + "description": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.", + "xref": ["MSH:D005198", "SNOMEDCT_US:236468006", "SNOMEDCT_US:44673006", "UMLS:C0341703"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": ["De toni-fanconi-debre syndrome", "Renal tubular fanconi syndrome"], + "uri": None, + "iri": None, + "namespace": "HP", + "has_phenotype": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": 0, "highlight": None, "score": None, }, { - "id": "MONDO:0011584", + "id": "MONDO:0014638", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group D1", + "name": "Fanconi anemia complementation group T", "full_name": None, "deprecated": None, - "description": "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.", - "xref": [ - "DOID:0111089", - "GARD:17449", - "MESH:C563980", - "NCIT:C125705", - "OMIM:605724", - "Orphanet:319462", - "SCTID:766707003", - "UMLS:C1838457", - ], + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.", + "xref": ["DOID:0111081", "GARD:16111", "OMIM:616435", "UMLS:C4084840"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, "synonym": [ - "FAD1", - "FANCD1", - "Fad1", - "Fanconi anemia complementation group D1", - "Fanconi anemia, complementation group D1", - "inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations", + "FANCT", + "Fanconi Anemia, complementation group type T", + "Fanconi anaemia caused by mutation in UBE2T", + "Fanconi anaemia complementation group type T", + "Fanconi anemia caused by mutation in UBE2T", + "Fanconi anemia complementation group type T", + "Fanconi anemia, complementation group T", + "UBE2T Fanconi anaemia", + "UBE2T Fanconi anemia", ], "uri": None, "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0000252", "HP:0004808", + "HP:0001876", + "HP:0001873", "HP:0009778", "HP:0005528", - "HP:0001511", - "HP:0000957", + "HP:0009942", + "HP:0001903", "HP:0003221", - "HP:0001508", "HP:0004322", - "HP:0006727", - "HP:0002023", + "HP:0000365", + "HP:0010628", ], "has_phenotype_label": [ - "Microcephaly", "Acute myeloid leukemia", + "Pancytopenia", + "Thrombocytopenia", "Short thumb", "Bone marrow hypocellularity", - "Intrauterine growth retardation", - "Cafe-au-lait spot", + "Duplication of thumb phalanx", + "Anemia", "Chromosomal breakage induced by crosslinking agents", - "Failure to thrive", "Short stature", - "T-cell acute lymphoblastic leukemias", - "Anal atresia", + "Hearing impairment", + "Facial palsy", ], "has_phenotype_closure": [ - "UBERON:0001245", - "UBERON:0000161", - "UBERON:0001555", - "UBERON:0001007", - "UPHENO:0002833", - "HP:0002023", - "UPHENO:0086644", - "UPHENO:0002839", - "HP:0004322", - "HP:0004378", - "UPHENO:0081423", - "UPHENO:0080352", - "UPHENO:0081424", - "UPHENO:0069254", - "HP:0004323", - "UPHENO:0010795", - "UPHENO:0082794", - "UPHENO:0054261", - "HP:0001508", - "UPHENO:0053208", - "HP:0004325", - "GO:0048519", - "GO:0043170", - "GO:0046483", - "GO:0034641", - "HP:0040012", - "UPHENO:0049990", - "UPHENO:0049873", - "GO:0031049", - "GO:0009987", - "UPHENO:0049700", - "GO:0010558", - "HP:0003221", - "GO:0044237", - "GO:0071840", - "UPHENO:0050121", - "GO:0010556", + "UPHENO:0080556", + "UBERON:0034713", + "UPHENO:0076702", + "HP:0001324", + "UPHENO:0076772", + "UBERON:0001021", + "UBERON:0005162", + "HP:0012638", + "HP:0011799", + "UBERON:0004473", + "UPHENO:0076710", + "HP:0001291", + "UPHENO:0086589", + "UBERON:0002376", + "UBERON:0001577", + "UBERON:0000010", + "UPHENO:0076722", + "UPHENO:0004523", + "UPHENO:0081709", + "UPHENO:0003587", + "HP:0410008", + "UPHENO:0002910", + "UPHENO:0087907", + "UPHENO:0080555", + "UBERON:0000122", + "UPHENO:0002908", + "UPHENO:0002816", + "UBERON:0015789", + "UBERON:0001785", + "UBERON:0000383", + "UBERON:0014892", + "UPHENO:0078730", + "GO:0050954", + "UPHENO:0002764", + "UBERON:0000020", + "UBERON:0007811", + "GO:0007600", + "UBERON:0000033", + "UBERON:0001016", + "UPHENO:0080377", + "UBERON:0004456", + "UBERON:0001032", + "GO:0050877", + "HP:0000234", + "HP:0000152", + "HP:0011804", + "GO:0032501", + "UPHENO:0050620", + "UPHENO:0005518", + "UPHENO:0052970", + "UBERON:0002105", + "UPHENO:0002332", + "UPHENO:0000543", + "HP:0000759", + "UPHENO:0049874", + "HP:0001507", + "HP:0000002", + "UPHENO:0069254", + "UBERON:0001456", + "UPHENO:0000541", + "UPHENO:0080351", + "HP:0001510", + "GO:0031326", + "UPHENO:0052231", "GO:0009890", - "GO:0010605", - 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"HP:0011805", + "HP:0002488", + "UPHENO:0078606", + "HP:0002664", + "HP:0011873", + "CL:0000232", + "CL:0000081", + "HP:0000118", + "HP:0011017", "UBERON:0012141", - "UPHENO:0076727", - "UBERON:0001442", - "UPHENO:0076740", - "UPHENO:0005642", - "UBERON:0002389", "UPHENO:0002708", - "UBERON:0006717", - "UPHENO:0078606", - "HP:0001574", - "UBERON:0011582", + "GO:0010556", + "PR:000050567", + "UPHENO:0084761", + "CL:0002242", + "UPHENO:0001002", + "UPHENO:0081423", + "UBERON:0015203", + "UPHENO:0050845", + "HP:0004377", "UBERON:0002390", - "UBERON:0012354", - "UPHENO:0046411", - "UPHENO:0082761", - "GO:0006996", - "UPHENO:0085144", - "UBERON:0006058", - "UBERON:0001474", - "UBERON:0010363", - "UPHENO:0080393", - "UBERON:0011249", - "UBERON:0019231", - "UBERON:5002389", + "UBERON:0010000", + "UBERON:0000479", "UBERON:5006048", - "UBERON:0010708", - "UBERON:0002091", - "HP:0009601", - "HP:0001155", - "UPHENO:0075696", - "HP:0011297", - "RO:0002577", - "UBERON:0004121", - "UBERON:0000955", - "HP:0006265", - "UPHENO:0087006", - "GO:0048856", - "HP:0005922", - "UPHENO:0086633", - "HP:0002664", - "HP:0025354", - "UPHENO:0086172", - "UPHENO:0063599", - "UPHENO:0052178", - "CL:0002242", - "UPHENO:0080351", - "CL:0000219", "CL:0000255", - "UPHENO:0074589", - "UBERON:0000468", - "NCBITaxon:2759", - "UPHENO:0084761", - "HP:0011793", - "BFO:0000015", - "UPHENO:0080079", - "UPHENO:0002948", - "CL:0002092", + "GO:0010558", + "UBERON:0008785", + "UPHENO:0004508", + "UBERON:0002193", + "HP:0009142", + "HP:0006824", + "UPHENO:0080352", + "UBERON:0002405", + "UBERON:0000026", + "UBERON:0001630", "HP:0033127", - "HP:0009815", - "HP:0032251", - "GO:0043473", - "UBERON:0034923", - "UBERON:0015061", - "HP:0001881", + "UPHENO:0086635", + "UPHENO:0002844", + "UPHENO:0049587", + "UBERON:0019231", + "CL:0000988", + "UBERON:0008229", + "UBERON:0010959", + "UBERON:0000465", + "BFO:0000004", + "UBERON:0015024", + "HP:0002817", + "UBERON:0000062", + "HP:0011793", + "UBERON:0002544", + "BFO:0000020", "UPHENO:0087123", - "UBERON:0010538", - "GO:1901360", - "UBERON:0015203", - "UPHENO:0080382", - "UBERON:0002405", - "UBERON:0000025", + "HP:0001909", + "UBERON:0015063", + "UBERON:5002389", + "UPHENO:0086049", + "UBERON:0003607", + "UPHENO:0084928", + "UPHENO:0002948", + "HP:0004808", "HP:0001871", - "UPHENO:0088166", - "UBERON:0000479", - "UBERON:0004120", - "UPHENO:0002635", - "UPHENO:0076723", + "UBERON:0001444", + "HP:0011842", + "UPHENO:0075696", + "UBERON:0002470", "CL:0000000", - "NCBITaxon:33208", - "GO:0008152", - "BFO:0000002", - "UBERON:0006048", - "UBERON:0002193", - "UPHENO:0004523", - "UBERON:0019221", - "BFO:0000020", - "HP:0010987", - "UBERON:0013701", - "HP:0002817", - "UBERON:0034925", - "UPHENO:0022529", - "HP:0009778", - "UBERON:0004381", - "CL:0000988", - "HP:0025031", - "UPHENO:0086589", - "UPHENO:0015280", - "UBERON:0004111", - "UBERON:0003129", - "UBERON:0000073", - "UBERON:0001017", - "BFO:0000004", - "UBERON:0000465", - "GO:0010468", - "UPHENO:0002830", - "BFO:0000003", - "UBERON:0002616", - "HP:0002488", - "NCBITaxon:131567", - "NCBITaxon:1", - "HP:0006727", - "GO:0007275", - "HP:0007364", - "HP:0100547", + "UBERON:0012354", + "GO:0065007", + "UPHENO:0085070", + "HP:0009602", + "UBERON:0011779", + "UPHENO:0077426", + "UPHENO:0087006", + "UPHENO:0085984", + "UPHENO:0002903", + "HP:0011875", + "UBERON:0005451", + "UBERON:0012140", + "HP:0010628", + "UPHENO:0085195", + "UBERON:0012475", + "UPHENO:0087369", + "UBERON:0000475", + "UBERON:0012151", + "UPHENO:0080099", + "HP:0040064", + "HP:0001167", + "UBERON:0003606", + "UBERON:0010538", + "UPHENO:0005433", + "UPHENO:0080114", + "GO:0006325", + "HP:0011927", + "UPHENO:0085118", + "UPHENO:0012274", + "GO:0048519", + "HP:0011314", + "CL:0000225", + "UBERON:0010912", + "UPHENO:0052178", + "UPHENO:0002240", + "UBERON:0011582", + "HP:0000301", + "UPHENO:0080126", + "GO:0046483", + "UPHENO:0084766", + "UBERON:0015212", + "HP:0001155", + "HP:0004322", + "UBERON:0015061", + "UBERON:0005897", + "UBERON:0004375", + "UPHENO:0001003", + "UBERON:0006717", + "UBERON:0002495", "UBERON:0002102", + "UPHENO:0086633", + "HP:0045060", + "GO:0071824", + "UPHENO:0021800", + "HP:0001172", + "UBERON:0000075", + "HP:0009815", "UPHENO:0088186", - "HP:0004808", - "HP:0000234", - "GO:0032501", + "UBERON:0010712", + "UBERON:0003221", + "UPHENO:0084763", + "UBERON:0012358", + "UPHENO:0049700", + "HP:0005927", + "UBERON:0004120", + "UBERON:0010543", + "UPHENO:0086045", + "UPHENO:0076727", + "GO:0031323", + "UBERON:0002513", + "UBERON:0019221", + "UBERON:0002529", + "UPHENO:0046707", + "UPHENO:0012541", + "UBERON:0012139", + "UPHENO:0086700", + "UBERON:0012357", + "UPHENO:0079876", + "UPHENO:0076740", + "GO:0044237", + "UBERON:0010363", + "UPHENO:0046624", + "UPHENO:0076723", "HP:0040068", - "UPHENO:0087907", - "UPHENO:0004459", - "NCBITaxon:6072", - "UPHENO:0012274", - "UBERON:0010314", - "UBERON:0000062", - "HP:0034915", - "UBERON:0007811", - "HP:0012145", - "UBERON:0013702", 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"UBERON:0004249", + "UBERON:0002389", + "UBERON:0001033", + "UBERON:0001690", + "UBERON:0010740", + "HP:0005528", + "UBERON:0010688", + "UBERON:5106048", + "UBERON:0004461", + "UBERON:0015021", + "UBERON:0018254", + "UPHENO:0086956", + "BFO:0000003", + "HP:0009942", + "HP:0031910", + "UBERON:5101463", + "UBERON:0011676", + "HP:0009997", + "UBERON:0015023", + "UBERON:0004381", + "UBERON:0008962", + "UPHENO:0085189", + "UBERON:5102544", + "UPHENO:0046411", + "UBERON:0001436", + "UPHENO:0081700", + "UBERON:0015025", + "UBERON:0011216", + "UBERON:0012150", + "UPHENO:0081424", + "UBERON:0010741", + ], + "has_phenotype_closure_label": [ + "skeletal musculature", + "Abnormality of facial soft tissue", + "abnormal muscle organ morphology", + "cranial neuron projection bundle", + "Abnormality of the nervous system", + "decreased muscle organ strength", + "nerve", + "musculature of body", + "neuron projection bundle", + "Abnormal peripheral nervous system morphology", + "Weakness of facial musculature", + "Muscle weakness", + "abnormal peripheral nervous system morphology", + "abnormal nerve", + "decreased anatomical entity strength", + "facial muscle", + "cranial muscle", + "abnormal head morphology", + "subdivision of head", + "Abnormality of the seventh cranial nerve", + "Cranial nerve paralysis", + "Abnormal cranial nerve morphology", + "abnormal craniocervical region morphology", + "abnormal facial nerve", + "gustatory system", + "nervous system", + "nerve of head region", + "multi cell part structure", + "Abnormal skeletal muscle morphology", + "cranial or facial muscle", + "skeletal muscle organ, vertebrate", + "paralysed cranial nerve", + "abnormal nervous system", + "abnormal musculature", + "Abnormal cranial nerve physiology", + "decreased qualitatively sensory perception of mechanical stimulus", + "sensory perception of mechanical stimulus", + "sensory perception", + "decreased sensory perception of sound", + "Abnormality of the ear", + "Hearing abnormality", + "sensory system", + "abnormality of anatomical entity physiology", + "Abnormality of head or neck", + "abnormal peripheral nervous system", + "body proper", + "ear", + "changed biological_process rate", + "abnormality of ear physiology", + "musculature", + "Hearing impairment", + "main body axis", + "subdivision of organism along main body axis", + "nervous system process", + "Abnormality of the head", + "growth", + "delayed biological_process", + "Abnormality of the face", + "decreased height of the anatomical entity", + "Growth delay", + "decreased size of the multicellular organism", + "Abnormality of body height", + "delayed growth", + "decreased height of the multicellular organism", + "system process", + "abnormality of multicellular organism height", + "abnormal primary metabolic process", + "Abnormality of metabolism/homeostasis", + "negative regulation of biosynthetic process", + "regulation of macromolecule biosynthetic process", + "DNA metabolic process", + "protein-DNA complex organization", + "regulation of cellular biosynthetic process", + "biological regulation", + "abnormal organelle organization", + "programmed DNA elimination", + "regulation of macromolecule metabolic process", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "nucleic acid metabolic process", + "protein-containing complex organization", + "regulation of biological process", + "obsolete nitrogen compound metabolic process", + "cellular component organization or biogenesis", + "Abnormality of the peripheral nervous system", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "Abnormal muscle physiology", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "abnormal biological_process", + "Abnormality of chromosome stability", + "abnormality of nervous system physiology", + "organic substance metabolic process", + "Abnormal cellular physiology", + "Chromosomal breakage induced by crosslinking agents", + "metabolic process", + "abnormal cellular process", + "regulation of cellular process", + "negative regulation of biological process", + "nucleobase-containing compound metabolic process", + "abnormal facial muscle", + "multicellular organismal process", + "obsolete cellular aromatic compound metabolic process", + "organelle organization", + "obsolete cellular nitrogen compound metabolic process", + "cellular component organization", + "face", + "Growth abnormality", + "programmed DNA elimination by chromosome breakage", + "regulation of gene expression", + "negative regulation of cellular biosynthetic process", + "chromatin organization", + "biological_process", + "Chromosome breakage", + "abnormal chromatin organization", + "abnormal erythroid lineage cell morphology", + "Abnormal erythrocyte morphology", + "abnormal erythrocyte morphology", + "anterior region of body", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "abnormal myeloid cell morphology", + "limb bone", + "musculature of face", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal number of anatomical enitites of type anatomical entity", + "craniocervical muscle", + "Abnormality of multiple cell lineages in the bone marrow", + "Abnormal nervous system morphology", + "sense organ", + "abnormal limb bone", + "abnormal skeletal system", + "abnormal phalanx of manus morphology", + "occurrent", + "organ", + "obsolete heterocycle metabolic process", + "erythroid lineage cell", + "forelimb endochondral element", + "multicellular anatomical structure", + "cellular process", + "Abnormal digit morphology", + "Abnormal nervous system physiology", + "abnormal hematopoietic system morphology", + "tissue", + "entire sense organ system", + "continuant", + "manual digitopodium region", + "abnormal anatomical entity morphology in the manus", + "facial nerve", + "Abnormality of the skeletal system", + "decreased size of the anatomical entity", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormal platelet morphology", + "abnormal sensory perception of sound", + "Abnormal platelet count", + "muscle structure", + "material anatomical entity", + "abnormal number of anatomical enitites of type platelet", + "limb endochondral element", + "Abnormal leukocyte count", + "autopod region", + "skeleton", + "manual digit bone", + "negative regulation of cellular metabolic process", + "abnormal bone marrow cell morphology", + "decreased length of anatomical entity", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "decreased length of anatomical entity in independent continuant", + "eukaryotic cell", + "skeleton of pectoral complex", + "Pancytopenia", + "bone marrow", + "acropodium region", + "Abnormal cellular immune system morphology", + "myeloid cell", + "immune system", + "abnormal nervous system morphology", + "abnormal cell morphology", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "blood cell", + "paired limb/fin segment", + "abnormal cranial nerve morphology", + "cellular metabolic process", + "biogenic amine secreting cell", + "abnormal blood cell morphology", + "negative regulation of gene expression", + "Phenotypic abnormality", + "Abnormality of bone marrow cell morphology", + "abnormal limb bone morphology", + "serotonin secreting cell", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "abnormality of cranial nerve physiology", + "abnormal appendicular skeleton morphology", + "abnormal platelet", + "structure with developmental contribution from neural crest", + "long bone", + "Duplication of bones involving the upper extremities", + "non-connected functional system", + "Abnormal leukocyte morphology", + "Abnormal upper limb bone morphology", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "Abnormal platelet morphology", + "decreased biological_process", + "Short stature", + "Aplasia/hypoplasia of the extremities", + "aplasia or hypoplasia of manual digit", + "digit 1", + "skeletal system", + "motile cell", + "Abnormal peripheral nerve morphology by anatomical site", + "Abnormality of facial musculature", + "abnormal growth", + "abnormal leukocyte morphology", + "independent continuant", + "organic cyclic compound metabolic process", + "manual digitopodium bone", + "segment of autopod", + "Abnormal cellular phenotype", + "skeleton of manus", + "Short finger", + "craniocervical region musculature", + "Abnormality of blood and blood-forming tissues", + "abnormal hematopoietic cell morphology", + "regulation of biosynthetic process", + "acropodial skeleton", + "abnormal anatomical entity morphology in the independent continuant", + "limb segment", + "oxygen accumulating cell", + "abnormal forelimb morphology", + "material entity", + "Abnormal erythroid lineage cell morphology", + "leukocyte", + "craniocervical region", + "abnormal long bone morphology", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "manual digit 1 digitopodial skeleton", + "hemolymphoid system", + "Abnormal immune system morphology", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of anatomical entity", + "disconnected anatomical group", + "bone cell", + "Aplasia/Hypoplasia of the thumb", + "abnormal hematopoietic system", + "manual digit 1 plus metapodial segment", + "Neoplasm", + "manual digit 1 or 5", + "abnormally decreased number of platelet", + "phalanx", + "erythrocyte", + "abnormal blood cell", + "manual digit 1 phalanx", + "organ system subdivision", + "abnormal phenotype by ontology source", + "abnormal size of multicellular organism", + "bone element", + "platelet", + "vestibulo-auditory system", + "hematopoietic cell", + "skeletal element", + "Bone marrow hypocellularity", + "Anemia", + "abnormal bone marrow cell", + "Acute leukemia", + "abnormal immune system", + "abnormal anatomical entity", + "abnormally decreased number of cell", + "muscle organ", + "abnormal anatomical entity length", + "abnormal cell", + "macromolecule metabolic process", + "appendage girdle complex", + "anatomical entity", + "Aplasia/hypoplasia involving the skeleton", + "musculoskeletal system", + "Abnormal cell morphology", + "phenotype", + "Abnormality of the immune system", + "Thrombocytopenia", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the skeleton of manus", + "Neoplasm by anatomical site", + "decreased length of manual digit 1", + "quality", + "phenotype by ontology source", + "anucleate cell", + "manus bone", + "Abnormality of the hand", + "Hematological neoplasm", + "manual digit plus metapodial segment", + "abnormal limb long bone morphology", + "hematopoietic system", + "autopod bone", + "multicellular organism", + "mesoderm-derived structure", + "skeleton of limb", + "nucleate cell", + "Abnormal finger morphology", + "anatomical system", + "anatomical structure", + "abnormally decreased number of myeloid cell", + "Abnormality of the musculoskeletal system", + "Abnormal finger phalanx morphology", + "abnormal bone marrow morphology", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "appendage", + "regulation of cellular metabolic process", + "regulation of metabolic process", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "abnormal immune system morphology", + "manual digit 1", + "Aplasia/hypoplasia involving bones of the extremities", + "decreased length of digit", + "Short thumb", + "abnormal manual digit 1 morphology", + "digit 1 plus metapodial segment", + "digit", + "endochondral element", + "abnormality of muscle organ physiology", + "multi-limb segment region", + "manual digit phalanx endochondral element", + "abnormal sensory perception", + "abnormal manus", + "secretory cell", + "decreased size of the anatomical entity in the independent continuant", + "abnormal anatomical entity morphology in the pectoral complex", + "segment of manus", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal skeletal system morphology", + "protein-containing material entity", + "aplasia or hypoplasia of anatomical entity", + "All", + "anatomical collection", + "paired limb/fin", + "digit plus metapodial segment", + "abnormal face", + "autopodial extension", + "subdivision of organism along appendicular axis", + "paired limb/fin skeleton", + "abnormal ear", + "abnormal autopod region morphology", + "bone of free limb or fin", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "autopodial skeleton", + "skeleton of digitopodium", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "forelimb", + "Acute myeloid leukemia", + "Short digit", + "lateral structure", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "forelimb skeleton", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormality of anatomical entity height", + "bone of appendage girdle complex", + "aplasia or hypoplasia of manual digit 1", + "bone marrow cell", + "system", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Abnormal appendicular skeleton morphology", + "Facial palsy", + "manual digit", + "paralysed anatomical entity", + "phalanx endochondral element", + "pectoral appendage skeleton", + "abnormal manus morphology", + "Abnormality of the musculature", + "abnormal digit", + "head", + "Abnormality of limb bone", + "cranial nerve", + "abnormal phalanx morphology", + "abnormal arm", + "manus", + "abnormal limb", + "skeletal musculature of head", + "organism subdivision", + "Leukemia", + "bone of pectoral complex", + "entity", + "subdivision of skeletal system", + "endochondral bone", + "subdivision of skeleton", + "arm", + "Abnormal ear physiology", + "sensory perception of sound", + "Abnormal myeloid cell morphology", + "digit 1 or 5", + "decreased qualitatively sensory perception of sound", + "cell", + "limb", + "Abnormality of the upper limb", + "Duplication of thumb phalanx", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "pectoral complex", + "digit 1 digitopodial skeleton", + "appendicular skeletal system", + "limb skeleton subdivision", + "upper limb segment", + "appendicular skeleton", + "abnormal manual digit morphology in the independent continuant", + "Abnormal hand morphology", + "abnormal limb morphology", + "Abnormality of thumb phalanx", + "decreased length of manual digit", + "Abnormality of thrombocytes", + "abnormal size of anatomical entity", + "primary metabolic process", + "skeleton of manual digitopodium", + "abnormal head", + "skeleton of manual acropodium", + "axial musculature", + "manual digit digitopodial skeleton", + "pectoral appendage", + "autopod endochondral element", + "Duplication of phalanx of hand", + "individual digit of digitopodial skeleton", + "Duplication of hand bones", + "peripheral nervous system", + "obsolete cell", + "limb long bone", + "forelimb bone", + "Abnormal long bone morphology", + "phalanx of manus", + "manual digit 1 phalanx endochondral element", + "digitopodium bone", + "forelimb long bone", + ], + "has_phenotype_count": 11, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0014985", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group V", + "full_name": None, + "deprecated": None, + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.", + "xref": ["DOID:0111080", "GARD:16213", "OMIM:617243", "UMLS:C4310652"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": [ + "FANCV", + "Fanconi Anemia, complementation Group 5", + "Fanconi Anemia, complementation group V", + "Fanconi Anemia, complementation group type V", + "Fanconi anaemia caused by mutation in MAD2L2", + "Fanconi anaemia complementation group type V", + "Fanconi anemia caused by mutation in MAD2L2", + "Fanconi anemia complementation group type V", + "Fanconi anemia, complementation GROUP V", + "MAD2L2 Fanconi anaemia", + "MAD2L2 Fanconi anemia", + ], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0001875", + "HP:0000252", + "HP:0001873", + "HP:0005528", + "HP:0006254", + "HP:0003221", + "HP:0001903", + "HP:0004322", + ], + "has_phenotype_label": [ + "Neutropenia", + "Microcephaly", + "Thrombocytopenia", + "Bone marrow hypocellularity", + "Elevated circulating alpha-fetoprotein concentration", + "Chromosomal breakage induced by crosslinking agents", + "Anemia", + "Short stature", + ], + "has_phenotype_closure": [ + "GO:0040007", + "UPHENO:0081424", "UPHENO:0000543", + "UPHENO:0049874", + "HP:0001507", "UPHENO:0012541", - "UPHENO:0080221", - "UPHENO:0081435", - "UBERON:0002513", - "UBERON:0000153", + "HP:0000002", + "HP:0001510", + "HP:0001877", + "CL:0000329", + "HP:0012130", + "UPHENO:0088162", + "CL:0000764", + "GO:0009890", + "GO:0031324", + "GO:0071824", + "UPHENO:0050021", + "GO:0010629", + "GO:0031049", + "GO:0060255", + "GO:0009889", + "GO:0048523", + "GO:0043933", + "UPHENO:0050116", + "HP:0003221", + "UPHENO:0049990", + "UPHENO:0050121", + "GO:0005623", + "UPHENO:0049748", + "GO:0010468", + "GO:0010558", + "GO:0031327", + "GO:0006325", + "GO:0050794", + "GO:0019222", + "GO:0048519", "GO:0006139", + "GO:1901360", + "GO:0043170", + "GO:0046483", + "UPHENO:0050845", + "HP:0003220", + "GO:0071840", + "UPHENO:0078606", "UPHENO:0050113", - "UPHENO:0001001", + "GO:0031052", + "CHEBI:24431", + "UPHENO:0051680", + "HP:0006254", + "UBERON:0010323", + "UPHENO:0086045", + "HP:0000234", + "UPHENO:0088338", + "UPHENO:0087089", + "UPHENO:0087123", + "HP:0000252", + "GO:0031323", + "UBERON:0011138", + "UPHENO:0000541", + "HP:0001874", + "GO:0010605", + "GO:0009892", + "UPHENO:0080079", + "NCBITaxon:2759", + "UPHENO:0081566", + "UPHENO:0087907", + "HP:0000152", "UBERON:0000475", - "GO:0016043", - "UPHENO:0050108", - "HP:0004377", - "UPHENO:0087518", - "HP:0002715", - "UBERON:0004288", - "GO:0031324", + "HP:0000240", + "UBERON:0001434", + "UPHENO:0076805", + "HP:0025461", "HP:0002060", - "HP:0006721", - "UPHENO:0060026", - "HP:0000118", - "UPHENO:0074228", - "UBERON:0002090", - "UPHENO:0002905", - "UPHENO:0085195", - "UBERON:0011137", - "HP:0011842", - "GO:0043933", - "CL:0000738", + "CL:0000988", + "UPHENO:0069254", + "UPHENO:0075220", + "UPHENO:0051936", + "HP:0010987", + "UPHENO:0081435", + "HP:0000924", + "UPHENO:0081423", + "UBERON:0015203", + "UPHENO:0022529", + "UPHENO:0049587", + "UPHENO:0002844", + "UPHENO:0001002", + "BFO:0000004", + "UPHENO:0080352", + "UBERON:0002405", + "UBERON:0000179", + "UBERON:0011676", "UBERON:0000061", - "UBERON:0004375", - "HP:0025033", - "HP:0000707", - "UBERON:0002097", - "HP:0000152", - "UBERON:0001890", - "UBERON:0001893", + "UPHENO:0001003", + "GO:0050789", + "UBERON:0013701", + "HP:0001881", + "UPHENO:0085344", + "UPHENO:0063722", + "HP:0001872", + "HP:0032180", + "UPHENO:0075159", + "HP:0100547", + "GO:0071704", + "CL:0000219", + "UBERON:0011137", + "BFO:0000020", + "HP:0011991", + "UPHENO:0076675", + "CHEBI:36962", + "UPHENO:0002948", + "CHEBI:33256", + "UBERON:0000062", + "UPHENO:0086019", + "UPHENO:0011498", + "UPHENO:0077822", "UBERON:0011216", - "UPHENO:0079876", - "UPHENO:0002844", - "UPHENO:0076803", - "UPHENO:0082682", - "NCBITaxon:33154", - "UPHENO:0002880", + "UPHENO:0076703", + "UBERON:0002193", + "CL:0001035", + "UPHENO:0085354", + "PR:000018263", + "UPHENO:0076799", + "UBERON:0000481", + "UPHENO:0020584", + "UPHENO:0087518", + "OBI:0100026", + "CL:0000766", + "UPHENO:0084928", + "UPHENO:0088318", + "HP:0000001", + "HP:0011875", + "HP:0430071", + "UPHENO:0085042", + "HP:0025354", + "UPHENO:0082943", + "UPHENO:0085371", + "CL:0000457", + "HP:0012443", + "HP:0032251", + "UPHENO:0004459", + "CL:0000233", + "UPHENO:0080351", + "UPHENO:0076286", + "UPHENO:0049700", + "HP:0001911", + "UPHENO:0085405", + "UPHENO:0002764", + "GO:0006807", + "UPHENO:0006910", + "CL:0002242", + "GO:0010556", + "PR:000050567", + "UPHENO:0085076", + "BFO:0000003", + "UPHENO:0085356", + "PATO:0000001", + "UBERON:0034923", + "HP:0040012", + "UPHENO:0086005", "UBERON:0000467", - "UBERON:0010000", - "UPHENO:0020584", - "UBERON:0001460", + "UBERON:0004765", + "UPHENO:0085118", + "HP:0002715", + "GO:0090304", + "UPHENO:0015280", + "HP:0045056", + "UPHENO:0004523", + "UPHENO:0086176", + "GO:0065007", + "HP:0010974", + "UPHENO:0085070", + "CHEBI:36963", + "HP:0000118", "UBERON:0000033", - "UPHENO:0080200", - "UPHENO:0076724", - "UPHENO:0046707", - "UPHENO:0003811", - "UPHENO:0076702", + "UBERON:0000178", + "HP:0011842", + "UPHENO:0075696", + "HP:0001871", + "HP:0001875", + "UPHENO:0077426", + "GO:0034641", + "HP:0011893", + "PR:000064867", + "UPHENO:0085984", + "CHEBI:51143", + "CL:0000255", + "UPHENO:0085189", + "UPHENO:0051612", + "CL:0000738", + "CL:0000763", + "CL:0000458", + "UPHENO:0088170", + "GO:0044238", + "UPHENO:0001001", + "UPHENO:0086589", + "UPHENO:0076791", + "CHEBI:37622", + "HP:0004322", + "UBERON:0003129", + "UPHENO:0086016", + "CL:0000000", + "UPHENO:0088166", + "BFO:0000001", + "UBERON:0004120", + "CL:0000094", + "UPHENO:0046362", + "HP:0007364", + "UBERON:0000468", + "HP:0032309", + "UBERON:0004121", + "UPHENO:0088335", + "GO:0006996", + "HP:0001939", + "NCBITaxon:33208", + "UPHENO:0076692", + "UPHENO:0002536", + "UBERON:0010314", "UBERON:0001062", - "GO:0031052", - "HP:0000929", - "HP:0002011", - "UPHENO:0081566", - "PATO:0000001", + "UPHENO:0088321", + "CL:0000775", "UBERON:0000075", - "GO:0019222", - "UPHENO:0076703", - "GO:0065007", - "GO:0031323", - "UBERON:0011138", - "GO:0050794", - "UBERON:0011676", - "UBERON:0002428", - "UPHENO:0076805", - "GO:0031327", - "UPHENO:0059829", - "UBERON:0001016", - "UBERON:0010712", + "UBERON:0010912", + "CL:0000225", + "UBERON:0010000", + "UBERON:0002390", + "CHEBI:15841", + "GO:0031326", + "UBERON:0002090", + "CHEBI:23367", + "UBERON:0000073", + "HP:0000929", + "UBERON:0000955", "UPHENO:0001005", - "GO:0006325", - "UBERON:0002101", - "HP:0005528", - "BFO:0000040", - "UBERON:0000026", - "UPHENO:0001003", + "HP:0040195", + "GO:0016043", + "HP:0002011", + "HP:0012145", + "BFO:0000002", + "HP:0012639", + "UPHENO:0051804", + "UBERON:0002204", + "GO:0044237", + "HP:0002977", + "NCBITaxon:131567", + "NCBITaxon:33154", + "GO:0006725", + "UBERON:0001893", + "UPHENO:0080200", + "UBERON:0001890", + "HP:0033127", + "UPHENO:0076702", + "HP:0001903", "UBERON:0005944", + "UPHENO:0088176", + "UBERON:0034925", + "BFO:0000040", + "HP:0033405", + "CHEBI:33304", + "UBERON:0013702", + "HP:0001873", + "UBERON:0007811", + "UPHENO:0075195", + "HP:0009121", + "NCBITaxon:6072", + "UPHENO:0002964", + "UPHENO:0086172", + "HP:0000707", + "UPHENO:0086173", + "UPHENO:0086049", + "HP:0011017", + "PR:000000001", + "UPHENO:0084987", + "UPHENO:0048707", + "CL:0000232", + "HP:0011873", + "CL:0000151", + "UPHENO:0085302", + "UBERON:0004288", + "UPHENO:0085144", + "HP:0020047", + "CL:0002092", + "CHEBI:33579", + "UPHENO:0051668", + "UPHENO:0087355", + "UPHENO:0049873", + "UBERON:0000153", + "HP:0005561", + "UPHENO:0087339", + "UPHENO:0035025", + "UBERON:0000479", + "HP:0005528", + "UBERON:0002371", + "GO:0006259", + "UBERON:0001474", + "UPHENO:0085195", + "UBERON:0001016", + "CHEBI:36357", + "UPHENO:0077821", + "UBERON:0000463", + "NCBITaxon:1", + "UPHENO:0046378", + "CHEBI:33302", + "UBERON:0000465", + "CHEBI:33582", + "CHEBI:16670", + "HP:0004364", + "HP:0010876", + "UPHENO:0085330", + "GO:0008152", + "UBERON:0002616", + "UPHENO:0048751", + "UPHENO:0046284", + "CHEBI:50860", + "CHEBI:16541", + "UPHENO:0068971", + "CHEBI:33695", + "UBERON:0001017", + "UPHENO:0081547", + "CHEBI:25806", + "CL:0000081", + "CHEBI:35352", + "UPHENO:0085068", + "CHEBI:32988", + "GO:0009987", + "CHEBI:33285", + "UPHENO:0051763", + "UPHENO:0020888", + "UPHENO:0077813", + "GO:0008150", + "CHEBI:33675", + "UPHENO:0076289", + "UPHENO:0077826", + "PR:000003809", + "BFO:0000015", + "CHEBI:33694", + "CHEBI:33839", + "UBERON:0006314", + "CHEBI:36080", + "CHEBI:50047", + "UPHENO:0051801", ], "has_phenotype_closure_label": [ - "digestive system", - "abnormal digestive system morphology", - "digestive tract", - "abnormal closing of the anatomical entity", - "anus", - "Abnormal anus morphology", - "T-cell acute lymphoblastic leukemias", - "Acute lymphoblastic leukemia", - "abnormal size of multicellular organism", + "delayed biological_process", + "Short stature", + "decreased height of the anatomical entity", + "Growth delay", "decreased size of the multicellular organism", + "Abnormality of body height", "abnormality of anatomical entity height", + "delayed growth", "decreased height of the multicellular organism", - "Failure to thrive", - "abnormality of anatomical entity mass", - "abnormal anus morphology", - "Abnormality of body weight", - "Decreased anatomical entity mass", - "decreased anatomical entity mass", - "abnormal metabolic process", - "abnormal chromatin organization", - "Abnormality of metabolism/homeostasis", - "Chromosomal breakage induced by crosslinking agents", + "abnormality of multicellular organism height", + "abnormal erythroid lineage cell morphology", + "Abnormal erythrocyte morphology", + "abnormal erythrocyte morphology", + "abnormal primary metabolic process", + "negative regulation of biosynthetic process", + "protein-DNA complex organization", + "regulation of cellular biosynthetic process", + "biological regulation", + "abnormal organelle organization", + "programmed DNA elimination", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "nucleic acid metabolic process", + "protein-containing complex organization", "regulation of biological process", - "organic substance metabolic process", - "decreased height of the anatomical entity", - "abnormal programmed DNA elimination by chromosome breakage", + "primary metabolic process", + "obsolete nitrogen compound metabolic process", + "cellular component organization or biogenesis", + "abnormal cellular component organization", "abnormal cellular metabolic process", + "obsolete cell", + "abnormal metabolic process", + "cellular process", + "abnormal cellular process", + "regulation of cellular metabolic process", + "regulation of metabolic process", "regulation of cellular process", - "Abnormality of digestive system morphology", "negative regulation of biological process", + "nucleobase-containing compound metabolic process", "organic cyclic compound metabolic process", "macromolecule metabolic process", - "obsolete heterocycle metabolic process", "obsolete cellular aromatic compound metabolic process", + "organelle organization", + "obsolete cellular nitrogen compound metabolic process", "cellular component organization", - "regulation of macromolecule metabolic process", - "orifice", - "regulation of cellular metabolic process", - "nucleobase-containing compound metabolic process", - "negative regulation of metabolic process", - "regulation of gene expression", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "programmed DNA elimination", - "abnormal organelle organization", - "regulation of cellular biosynthetic process", - "negative regulation of biosynthetic process", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "integument", - "integumental system", - "pigmentation", - "Abnormality of the integument", - "abnormal pigmentation", - "increased pigmentation in independent continuant", - "increased biological_process in independent continuant", - "Hyperpigmentation of the skin", - "increased qualitatively biological_process in independent continuant", - "negative regulation of macromolecule biosynthetic process", - "Abnormality of the skin", - "increased biological_process", - "abnormal integument", - "increased biological_process in skin of body", - "increased pigmentation", - "Hypermelanotic macule", - "abnormal pigmentation in independent continuant", - "abnormal biological_process in independent continuant", - "Abnormality of skin pigmentation", - "regulation of metabolic process", - "increased qualitatively biological_process", - "abnormal skin of body morphology", - "decreased multicellular organism mass", - "abnormal skin of body", - "Intrauterine growth retardation", - "developmental process", - "growth", - "Abnormality of chromosome stability", - "Abnormality of skin morphology", - "multicellular organismal process", - "biological_process", - "anatomical structure development", - "decreased qualitatively developmental process", - "changed biological_process rate", - "decreased developmental process", - "abnormal embryo development", - "abnormal bone marrow cell", - "abnormal bone marrow cell morphology", - "Abnormality of bone marrow cell morphology", - "changed embryo development rate", - "tissue", - "abnormal cell morphology", - "subdivision of organism along appendicular axis", - "forelimb", - "embryo development", - "autopodial skeleton", - "paired limb/fin", - "decreased biological_process", - "Abnormal appendicular skeleton morphology", - "abnormal anus", - "delayed biological_process", - "abnormal anatomical entity morphology in the manus", - "abnormal hematopoietic system morphology", - "Aplasia/hypoplasia involving the skeleton", - "pectoral appendage", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormal digit morphology", - "abnormal digestive system", - "bone marrow cell", - "abnormal manus", - "decreased size of the anatomical entity in the pectoral complex", - "abnormal development of anatomical entity", - "digitopodium region", - "segment of manus", - "cellular process", - "manual digit 1", - "Localized skin lesion", - "multi-limb segment region", - "endochondral element", - "digit 1 plus metapodial segment", - "anatomical conduit", - "obsolete nitrogen compound metabolic process", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "limb bone", - "bone of free limb or fin", - "decreased size of the anatomical entity in the independent continuant", - "Abnormal digit morphology", - "aplasia or hypoplasia of manual digit", - "decreased length of manual digit", - "autopodial extension", - "Abnormal finger morphology", - "Abnormality of the upper limb", - "decreased qualitatively biological_process", - "manual digit plus metapodial segment", - "immune system", - "Microcephaly", - "abnormal craniocervical region", - "limb skeleton subdivision", - "Bone marrow hypocellularity", - "Short finger", - "Abnormality of the nervous system", - "appendicular skeletal system", - "forebrain", - "paired limb/fin segment", - "Abnormal cell morphology", - "Abnormal forebrain morphology", - "Aplasia/Hypoplasia of the cerebrum", - "manus", - "decreased length of manual digit 1", "Growth abnormality", - "nervous system", - "skeleton of limb", - "Abnormal thumb morphology", - "segment of autopod", - "abnormal appendicular skeleton morphology", - "anus atresia", - "Aplasia/hypoplasia involving bones of the hand", - "manual digit 1 or 5", - "system", - "Abnormality of the hand", - "bone cell", - "abnormal head", - "abnormal autopod region morphology", - "abnormal limb", - "Abnormal hand morphology", - "anatomical entity atresia", - "abnormal manual digit morphology in the independent continuant", - "Growth delay", - "forelimb skeleton", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormality of multiple cell lineages in the bone marrow", - "skeleton of pectoral complex", - "skeleton", - "abnormal manual digit 1 morphology", - "tube", - "decreased length of anatomical entity", - "endochondral bone", - "decreased length of anatomical entity in independent continuant", - "phenotype by ontology source", - "abnormal manus morphology", - "arm", - "lateral structure", - "abnormal primary metabolic process", - "Aplasia/Hypoplasia of the thumb", - "digit plus metapodial segment", - "Neoplasm by anatomical site", - "Abnormality of limb bone", - "axial skeletal system", - "Aplasia/hypoplasia involving bones of the extremities", - "autopod region", - "musculoskeletal system", - "decreased size of the anatomical entity", - "protein-containing material entity", - "bone marrow", - "bone of appendage girdle complex", - "manual digit", - "aplasia or hypoplasia of telencephalon", - "Short digit", - "Short thumb", - "nucleic acid metabolic process", - "Decreased head circumference", - "abnormal hematopoietic system", - "leukocyte", - "Abnormal cellular phenotype", - "pectoral appendage skeleton", - "nucleate cell", - "organelle organization", - "Cafe-au-lait spot", - "decreased length of digit", - "hematopoietic cell", - "Chromosome breakage", - "digit 1 or 5", - "Neoplasm", - "Aplasia/Hypoplasia of fingers", - "abnormal immune system morphology", - "Abnormality of body height", - "abnormal postcranial axial skeleton morphology", - "manual digit 1 plus metapodial segment", - "Abnormal cellular immune system morphology", - "Abnormality of the anus", - "Acute leukemia", - "Macule", - "changed developmental process rate", - "manual digitopodium region", - "Abnormal immune system morphology", - "cellular component organization or biogenesis", - "abnormal immune system", - "Leukemia", - "acropodium region", - "abnormal leukocyte morphology", - "cellular metabolic process", - "cell", - "hemolymphoid system", - "abnormal manual digit morphology in the manus", - "abnormal cell", - "anatomical structure", - "Abnormality of blood and blood-forming tissues", - "digit 1", - "Abnormal skull morphology", - "organ system subdivision", + "programmed DNA elimination by chromosome breakage", + "regulation of gene expression", + "abnormal telencephalon morphology", + "anatomical entity", + "cellular organisms", + "polyatomic entity", + "Abnormality of head or neck", "craniocervical region", - "abnormal anatomical entity", - "skeletal element", - "Abnormality of the head", - "abnormal skull morphology", - "Abnormality of skull size", - "Morphological central nervous system abnormality", - "anatomical collection", - "obsolete cell", - "occurrent", - "abnormal skeletal system morphology", - "Decreased body weight", - "phenotype", - "Irregular hyperpigmentation", - "central nervous system", - "subdivision of skeleton", + "haemolymphatic fluid", + "body proper", + "aplasia or hypoplasia of telencephalon", + "regional part of brain", + "abnormal craniocervical region morphology", "regional part of nervous system", - "abnormal developmental process", - "Abnormality of limb bone morphology", - "abnormality of multicellular organism mass", + "forebrain", "abnormal anatomical entity morphology in the brain", - "Abnormal skeletal morphology", - "axial skeleton plus cranial skeleton", - "limb endochondral element", - "anatomical entity", - "abnormal arm", - "protein-DNA complex organization", - "abnormal telencephalon morphology", - "biological regulation", - "regulation of macromolecule biosynthetic process", - "process", - "cellular organisms", + "Abnormal skull morphology", + "Abnormal leukocyte morphology", + "Morphological central nervous system abnormality", + "cell", + "neutrophil", + "anterior region of body", "multi-tissue structure", - "abnormal forelimb morphology", - "abnormal brain morphology", - "abnormal limb bone", - "Abnormality of limbs", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal central nervous system morphology", - "root", - "primary metabolic process", "abnormal biological_process", - "abnormal anatomical entity morphology", - "abnormal size of anatomical entity", - "obsolete cellular nitrogen compound metabolic process", - "abnormal bone marrow morphology", - "subdivision of organism along main body axis", - "multicellular anatomical structure", - "skull", - "decreased qualitatively growth", - "delayed growth", - "organism", - "decreased growth", - "Abnormality of the skeletal system", - "abnormality of multicellular organism height", + "abnormal role bodily fluid level", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormal skeletal morphology", + "erythroid lineage cell", + "obsolete heterocycle metabolic process", + "Abnormal axial skeleton morphology", + "Chromosome breakage", + "abnormal chromatin organization", + "mesoderm-derived structure", + "macromolecule", "anatomical system", - "aplasia or hypoplasia of anatomical entity", + "main body axis", + "immune system", + "myeloid cell", + "organonitrogen compound", + "root", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal nervous system", + "Abnormal neutrophil count", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal bone marrow morphology", "quality", - "Anal atresia", - "Abnormal cellular physiology", - "abnormal nitrogen compound metabolic process", - "limb segment", - "appendage girdle complex", - "appendicular skeleton", - "Eumetazoa", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal myeloid leukocyte morphology", + "myeloid leukocyte", + "biological_process", + "phenotype by ontology source", + "anucleate cell", + "granulocyte", + "abnormal number of anatomical enitites of type myeloid cell", + "musculoskeletal system", + "Abnormal cell morphology", + "phenotype", + "Abnormal cellular phenotype", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal number of anatomical enitites of type anatomical entity", + "nervous system", + "anatomical collection", "All", - "Aplasia/Hypoplasia involving the central nervous system", - "organ", - "organism subdivision", + "abnormal skull morphology", + "increased level of protein", + "abnormally decreased number of leukocyte in the independent continuant", + "aplasia or hypoplasia of anatomical entity", + "Abnormal leukocyte count", + "decreased size of the anatomical entity in the independent continuant", + "secretory cell", + "central nervous system", + "abnormal blood alpha-fetoprotein level", + "hemolymphoid system", + "material anatomical entity", + "abnormal platelet morphology", + "Abnormal platelet count", + "growth", + "abnormally decreased number of anatomical entity in the independent continuant", + "serotonin secreting cell", + "nucleate cell", "postcranial axial skeletal system", - "entity", - "abnormal anatomical entity length", - "pectoral complex", - "Abnormality of the musculoskeletal system", + "abnormal phenotype by ontology source", + "hematopoietic cell", "skeletal system", + "motile cell", + "abnormal growth", + "abnormal leukocyte morphology", + "independent continuant", + "abnormal immune system morphology", + "nitrogen molecular entity", + "chromatin organization", + "negative regulation of macromolecule biosynthetic process", + "abnormal number of anatomical enitites of type granulocyte", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "amino acid chain", + "tissue", + "abnormal axial skeleton plus cranial skeleton morphology", + "organic molecular entity", + "primary amide", + "eukaryotic cell", + "skull", + "abnormal head", + "Abnormal myeloid leukocyte morphology", + "Abnormality of brain morphology", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "information biomacromolecule", + "multicellular organism", + "hematopoietic system", + "abnormally decreased number of neutrophil", + "Abnormal granulocyte count", + "Abnormality of the skeletal system", + "Abnormal granulocyte morphology", + "anatomical structure", + "regulation of macromolecule biosynthetic process", + "Abnormal circulating metabolite concentration", + "abnormally decreased number of granulocyte", + "structure with developmental contribution from neural crest", + "abnormal neutrophil", + "ectoderm-derived structure", + "abnormally decreased number of hematopoietic cell", + "pnictogen molecular entity", + "Abnormal nervous system morphology", + "abnormally decreased number of cell", + "oxygen molecular entity", + "abnormal cell", + "abnormal programmed DNA elimination by chromosome breakage", + "organochalcogen compound", + "oxygen accumulating cell", + "protein", + "organic amino compound", + "Abnormal erythroid lineage cell morphology", + "leukocyte", + "Abnormality of chromosome stability", + "abnormal central nervous system morphology", + "material entity", + "abnormal alpha-fetoprotein level", + "Aplasia/Hypoplasia involving the central nervous system", + "Microcephaly", "abnormal DNA metabolic process", - "metabolic process", - "digit", + "blood cell", + "chemical entity", + "abnormal myeloid cell morphology", + "Abnormal myeloid cell morphology", + "abnormal forebrain morphology", + "negative regulation of gene expression", "Phenotypic abnormality", - "anterior region of body", + "abnormal blood cell morphology", + "Neutropenia", + "abnormally decreased number of cell in the independent continuant", + "multicellular anatomical structure", + "Abnormality of neutrophils", + "Abnormality of skull size", + "subdivision of organism along main body axis", + "abnormal skeletal system morphology", + "protein-containing material entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "Abnormal immune system morphology", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of anatomical entity", + "Elevated circulating alpha-fetoprotein concentration", + "abnormally decreased number of granulocyte in the independent continuant", + "non-connected functional system", + "abnormal size of multicellular organism", + "bone element", + "abnormally decreased number of leukocyte", + "abnormal hematopoietic cell morphology", + "abnormal granulocyte morphology", + "Chromosomal breakage induced by crosslinking agents", + "Abnormal circulating organic compound concentration", + "protein-containing molecular entity", + "skeleton", + "bone marrow", + "abnormal hematopoietic system", + "disconnected anatomical group", + "abnormal immune system", + "abnormal anatomical entity", + "abnormal independent continuant nitrogen molecular entity level", + "Abnormality of the head", + "Abnormal forebrain morphology", "Abnormality of the immune system", - "structure with developmental contribution from neural crest", - "Aplasia/hypoplasia of the extremities", - "subdivision of skeletal system", - "negative regulation of gene expression", - "abnormal forebrain morphology", - "Opisthokonta", - "abnormal anatomical entity morphology in the independent continuant", - "Acute myeloid leukemia", - "abnormal limb morphology", - "brain", - "upper limb segment", - "paired limb/fin skeleton", + "Thrombocytopenia", + "abnormal anatomical entity morphology", "Abnormal cerebral morphology", - "postcranial axial skeleton", - "abnormal limb bone morphology", - "Short stature", - "skin of body", - "non-connected functional system", - "Hematological neoplasm", - "abnormal cellular component organization", - "cranial skeletal system", - "head", - "limb", - "abnormal nervous system", - "Metazoa", - "Abnormal axial skeleton morphology", - "continuant", "specifically dependent continuant", - "Abnormal nervous system morphology", - "Decreased multicellular organism mass", - "material anatomical entity", - "appendage", - "aplasia or hypoplasia of skeleton", - "independent continuant", - "Abnormal leukocyte morphology", - "ectoderm-derived structure", + "erythrocyte", + "abnormal blood cell", + "organ system subdivision", "abnormal size of skull", - "body proper", - "regulation of biosynthetic process", - "abnormal cellular process", - "Abnormality of brain morphology", - "regional part of brain", - "abnormal digit", - "increased pigmentation in skin of body", - "material entity", - "multicellular organism", - "Abnormality of the digestive system", - "Abnormality of head or neck", - "bone element", + "abnormal postcranial axial skeleton morphology", + "abnormal cell morphology", "abnormal nervous system morphology", - "changed biological_process rate in independent continuant", - "abnormal craniocervical region morphology", - "protein-containing complex organization", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal phenotype by ontology source", - "disconnected anatomical group", - "programmed DNA elimination by chromosome breakage", + "organism subdivision", + "decreased size of the anatomical entity", + "blood", + "subdivision of skeleton", + "Opisthokonta", + "telencephalon", + "axial skeletal system", + "abnormally decreased number of myeloid cell in the independent continuant", + "cranial skeletal system", + "postcranial axial skeleton", "abnormal skeletal system", - "abnormal growth", - "eukaryotic cell", - "decreased embryo development", + "Metazoa", + "axial skeleton plus cranial skeleton", + "Abnormality of the nervous system", + "Eumetazoa", "Eukaryota", - "abnormal head morphology", - "negative regulation of cellular process", - "multicellular organism development", - "hematopoietic system", - "mesoderm-derived structure", - "main body axis", - "motile cell", + "abnormal craniocervical region", + "organism", + "Decreased head circumference", + "Abnormality of thrombocytes", + "abnormal size of anatomical entity", + "abnormal platelet", + "cellular metabolic process", + "biogenic amine secreting cell", + "abnormal blood chemical entity level", + "abnormal number of anatomical enitites of type platelet", + "abnormally decreased number of platelet", + "bone marrow cell", + "abnormal blood protein polypeptide chain level", + "bone cell", + "Abnormality of bone marrow cell morphology", + "polypeptide", + "abnormal hematopoietic system morphology", + "Bone marrow hypocellularity", + "skeletal element", "negative regulation of cellular metabolic process", - "telencephalon", + "abnormal bone marrow cell morphology", + "Anemia", + "abnormal bone marrow cell", + "Abnormal circulating alpha-fetoprotein concentration", + "Abnormality of multiple cell lineages in the bone marrow", + "carbon group molecular entity", + "abnormal independent continuant chemical entity level", + "Abnormal circulating nitrogen compound concentration", + "peptide", + "continuant", + "protein polypeptide chain", + "abnormal chemical entity level", + "abnormal number of anatomical enitites of type hematopoietic cell", + "process", + "abnormal role independent continuant level", + "abnormal independent continuant protein level", + "chalcogen molecular entity", + "entity", + "subdivision of skeletal system", + "Abnormal circulating protein concentration", + "Abnormality of the musculoskeletal system", + "abnormally decreased number of myeloid cell", + "abnormal protein level", + "metabolic process", + "bodily fluid", + "organism substance", + "organ", + "occurrent", + "increased level of alpha-fetoprotein", + "abnormal role blood level", + "Abnormality of metabolism/homeostasis", + "organic substance metabolic process", + "Abnormal cellular physiology", + "increased level of chemical entity", + "head", + "amide", + "platelet", + "organooxygen compound", + "abnormal independent continuant alpha-fetoprotein level", + "p-block molecular entity", + "biomacromolecule", + "Abnormal platelet morphology", + "heteroorganic entity", + "alpha-fetoprotein", + "abnormal head morphology", + "abnormal independent continuant protein polypeptide chain level", + "Abnormality of blood and blood-forming tissues", + "molecular entity", + "DNA metabolic process", + "carboxamide", + "abnormal blood nitrogen molecular entity level", + "Abnormal circulating organic amino compound concentration", + "abnormal multicellular organism chemical entity level", + "main group molecular entity", + "negative regulation of cellular biosynthetic process", ], - "has_phenotype_count": 11, + "has_phenotype_count": 8, "highlight": None, "score": None, }, { - "id": "MONDO:0013248", + "id": "MONDO:0011325", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group O", + "name": "Fanconi anemia complementation group F", "full_name": None, "deprecated": None, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.", - "xref": ["DOID:0111096", "GARD:15656", "OMIM:613390", "UMLS:C3150653"], + "description": "Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM.", + "xref": ["DOID:0111088", "GARD:15355", "NCIT:C125707", "OMIM:603467"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, "synonym": [ - "FANCO", - "Fanconi Anemia, complementation group type O", - "Fanconi anaemia caused by mutation in RAD51C", - "Fanconi anaemia caused by mutation in Rad51C", - "Fanconi anaemia complementation group type O", - "Fanconi anemia caused by mutation in RAD51C", - "Fanconi anemia caused by mutation in Rad51C", - "Fanconi anemia complementation group type O", - "Fanconi anemia, complementation group O", - "RAD51C Fanconi anaemia", - "RAD51C Fanconi anemia", - "Rad51C Fanconi anaemia", - "Rad51C Fanconi anemia", + "FANCF", + "Fanconi Anemia, complementation group type F", + "Fanconi anaemia complementation group type F", + "Fanconi anemia complementation group F", + "Fanconi anemia complementation group type F", + "Fanconi anemia, complementation group F", ], "uri": None, "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0040012", - "HP:0000107", - "HP:0001245", - "HP:0025023", + "HP:0008551", "HP:0002984", "HP:0009777", - "HP:0000126", + "HP:0000750", + "HP:0000960", + "HP:0001882", + "HP:0000252", + "HP:0000957", + "HP:0002247", "HP:0000028", + "HP:0001631", "HP:0009778", - "HP:0009623", - "HP:0001627", - "HP:0003241", + "HP:0001873", + "HP:0000125", + "HP:0000405", + "HP:0000824", + "HP:0000568", + "HP:0002090", + "HP:0003221", + "HP:0000076", + "HP:0001643", + "HP:0005528", + "HP:0030260", + "HP:0000953", + "HP:0001328", + "HP:0001903", + "HP:0001508", + "HP:0001195", + "HP:0000089", + "HP:0001233", "HP:0004322", - "HP:0002023", - "HP:0003774", + "HP:0001511", + "HP:0001561", + "HP:0011419", ], "has_phenotype_label": [ - "Chromosome breakage", - "Renal cyst", - "Small thenar eminence", - "Rectal atresia", + "Microtia", "Hypoplasia of the radius", "Absent thumb", - "Hydronephrosis", + "Delayed speech and language development", + "Sacral dimple", + "Leukopenia", + "Microcephaly", + "Cafe-au-lait spot", + "Duodenal atresia", "Cryptorchidism", + "Atrial septal defect", "Short thumb", - "Proximal placement of thumb", - "Abnormal heart morphology", - "External genital hypoplasia", + "Thrombocytopenia", + "Pelvic kidney", + "Conductive hearing impairment", + "Decreased response to growth hormone stimulation test", + "Microphthalmia", + "Pneumonia", + "Chromosomal breakage induced by crosslinking agents", + "Vesicoureteral reflux", + "Patent ductus arteriosus", + "Bone marrow hypocellularity", + "Microphallus", + "Hyperpigmentation of the skin", + "Specific learning disability", + "Anemia", + "Failure to thrive", + "Single umbilical artery", + "Renal hypoplasia", + "2-3 finger syndactyly", "Short stature", - "Anal atresia", - "Stage 5 chronic kidney disease", + "Intrauterine growth retardation", + "Polyhydramnios", + "Placental abruption", ], "has_phenotype_closure": [ - "UPHENO:0086132", - "UPHENO:0002411", - "UPHENO:0002442", - "UBERON:0004121", - "UBERON:0000161", - "UPHENO:0086644", + "UBERON:0003100", + "UPHENO:0005170", + "UBERON:0000173", + "HP:0001561", + "GO:0009790", + "UPHENO:0080393", + "UPHENO:0081436", + "GO:0048856", + "UPHENO:0005642", + "UPHENO:0081424", + "UPHENO:0000543", "UPHENO:0080351", - "HP:0001507", - "GO:0040007", "UPHENO:0075159", - "HP:0001510", - "UPHENO:0080352", - "UPHENO:0081424", + "UBERON:5003622", + "UBERON:0006049", + "UPHENO:0078125", + "UPHENO:0078307", + "UPHENO:0078215", + "UPHENO:0076747", + "UPHENO:0078288", + "UPHENO:0075182", + "UPHENO:0081210", + "HP:0001195", + "UBERON:0000478", + "HP:0001159", + "UBERON:0000323", + "HP:0011403", + "UBERON:0002331", + "UPHENO:0075949", + "UBERON:0000922", + "HP:0010881", + "HP:0010948", + "GO:0040007", + "UPHENO:0049874", + "HP:0001507", + "UPHENO:0082794", + "HP:0001508", + "UPHENO:0054299", + "UPHENO:0010795", + "HP:0001877", + "HP:0001328", + "UBERON:0008811", + "HP:0000036", + "HP:0008736", + "UBERON:0000989", + "UPHENO:0050034", + "CL:0001035", + "HP:0012145", + "UPHENO:0087339", + "UPHENO:0087355", + "UBERON:0011695", + "HP:0002597", + "UPHENO:0086797", + "UPHENO:0002678", + "UPHENO:0087018", + "HP:0030962", + "UBERON:0004716", + "UPHENO:0015290", + "UBERON:0004572", + "UBERON:0006876", + "UBERON:0002201", + "HP:0001194", + "UBERON:0003498", + "UBERON:0007798", + "UBERON:0004145", + "UPHENO:0076729", + "UBERON:0000477", + "UBERON:0009856", + "CL:0000232", + "UPHENO:0002806", + "UPHENO:0082878", + "UBERON:0000056", + "HP:0010936", + "HP:0000069", + "UBERON:0036295", + "UBERON:0018707", + "UPHENO:0002437", + "HP:0000076", + "UPHENO:0075852", + "UBERON:0000479", + "HP:0000014", + "GO:0031326", + "GO:0009890", + "GO:0031324", + "GO:0006259", + "GO:0071824", + "UPHENO:0050021", + "GO:0010629", + "GO:0009889", + "GO:0031323", + "GO:0090304", + "UPHENO:0050116", + "HP:0003221", + "GO:0005623", + "UPHENO:0049700", + "UPHENO:0000541", + "GO:0010468", + "GO:0019222", + "GO:0006139", + "GO:0046483", + "HP:0000009", + "HP:0001939", + "UPHENO:0050845", + "HP:0003220", + "GO:0044238", + "GO:0071704", + "GO:0008152", + "UPHENO:0050113", + "GO:0031052", + "UPHENO:0080693", + "UPHENO:0002827", + "UPHENO:0082723", + "HP:0010978", + "UPHENO:0002448", + "UBERON:0004119", + "UBERON:0000171", + "UBERON:0002048", + "UPHENO:0019970", + "HP:0002090", + "UPHENO:0083263", + "HP:0012647", + "GO:0006952", + "UBERON:0001005", + "UPHENO:0049588", + "HP:0012649", + "HP:0002086", + "UPHENO:0087433", + "UPHENO:0087472", + "UBERON:0001987", + "UBERON:0002371", + "UPHENO:0075997", + "UBERON:0001456", + "HP:0000568", + "UPHENO:0075219", + "UBERON:0000047", + "UBERON:0010230", + "UBERON:0000019", + "HP:0008056", + "UPHENO:0087924", + "HP:0100887", + "HP:0000478", + "UBERON:0001004", + "HP:0000315", + "UPHENO:0068843", + "UPHENO:0080209", + "GO:0002790", + "CHEBI:24431", + "GO:0065007", + "UPHENO:0076287", + "GO:0006954", + "UPHENO:0080220", + 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"UBERON:0004375", + "HP:0009115", + "UPHENO:0004523", + "UBERON:0010758", + "UBERON:0001555", + "UPHENO:0087846", + "GO:0008150", + "UPHENO:0020888", + "UPHENO:0002433", + "HP:0011747", + "UPHENO:0049587", + "BFO:0000015", + "UPHENO:0049748", + "HP:0000707", + "UPHENO:0005431", + "UPHENO:0086172", + "UPHENO:0076739", + "UPHENO:0080079", + "HP:0007364", + "BFO:0000001", + "UPHENO:0002635", + "UPHENO:0002751", + "UBERON:0002495", + "UBERON:0004535", + "HP:0005107", + "HP:0010767", + "UPHENO:0003020", + "UBERON:0005944", + "UBERON:0000991", + "UBERON:0002398", + "UBERON:0009569", + "UBERON:0002416", + "CL:0000764", + "UPHENO:0087089", + "UPHENO:0083951", + "UPHENO:0087374", + "CL:0000039", + "UBERON:0002102", + "UPHENO:0003811", + "CL:0000225", + "HP:0000925", + "GO:0006950", + "UPHENO:0015324", + "HP:0001643", + "UBERON:0004571", + "UBERON:0000065", + "HP:0000830", + "UBERON:0012140", + "UBERON:0005473", + "UBERON:0004111", + "UPHENO:0080377", + "UBERON:0011137", + "UPHENO:0033572", + "HP:0009815", + "HP:0002246", + "UBERON:0006077", + "UPHENO:0078159", + "UPHENO:0049584", + "HP:0025033", + "GO:0048232", + "UBERON:0003828", + "CL:0000988", + "HP:0012372", + "HP:0002060", + "GO:0060255", + "UBERON:0006075", + "UBERON:0001981", + "UPHENO:0082875", + "HP:0011355", + "GO:0050794", + "UPHENO:0085875", + "HP:0010781", + "UPHENO:0076695", + "GO:0044237", + "UPHENO:0088166", + "UPHENO:0002813", + "GO:0007275", + "HP:0000924", + "UBERON:0004121", + "UBERON:0004247", + "UPHENO:0080099", + "CL:0000219", + "UBERON:0005173", + "UPHENO:0086857", + "UBERON:0003463", + "HP:0040012", + "UBERON:0010707", + "UPHENO:0022529", + "HP:0000032", + "UBERON:0001556", + "HP:0001574", + "UBERON:0005174", + "UBERON:0011216", + "HP:0011024", + "UBERON:0004175", + "UPHENO:0087334", + "UBERON:0005177", + "HP:0009121", + "HP:0011100", + "UPHENO:0049990", + "UPHENO:0020659", + "RO:0002577", + "HP:0000951", + "UBERON:0001637", + "UPHENO:0077426", + "UPHENO:0085984", + "HP:0002715", + "HP:0030260", + "GO:0051234", + "UPHENO:0085371", + "CL:0000000", + "UPHENO:0050101", + "UPHENO:0088338", + "UPHENO:0078743", + "UPHENO:0076703", + "UPHENO:0085330", + "HP:0010460", + "UPHENO:0035025", + "UPHENO:0079876", + "UBERON:0001007", + "UPHENO:0078327", + "UPHENO:0087123", + "UBERON:0018674", + "UPHENO:0088319", + "UPHENO:0075872", + "GO:0010605", + "UPHENO:0035147", + "UBERON:0000474", + "HP:0025354", + "CL:0000255", + "UPHENO:0005986", + "CL:0002242", + "UPHENO:0087643", + "UPHENO:0002948", + "UBERON:0002100", + "UPHENO:0076675", + "UPHENO:0063722", + "UPHENO:0087376", + "HP:0001881", + "UPHENO:0078081", + "GO:0015833", + "UPHENO:0076735", + "UBERON:0006314", + "HP:0005561", + "HP:0011893", + "HP:0010987", + "UPHENO:0002832", + "GO:0032502", + "HP:0032251", + "UPHENO:0085195", + "UPHENO:0063629", + "UPHENO:0086635", + "HP:0000812", + "HP:0000240", + "UPHENO:0081628", + "UPHENO:0086855", + "UBERON:0001691", + "UPHENO:0075220", + "BFO:0000020", + "UBERON:0012354", + "UPHENO:0081566", + "NCBITaxon:1", + "HP:0000252", + "UBERON:0000055", + "UPHENO:0083689", "UBERON:0000489", - "HP:0001197", - "HP:0002818", - "HP:0002250", - "UBERON:0000916", - "UBERON:0010000", - "HP:0001939", - "UBERON:0004489", - "UBERON:0004122", - "HP:0000001", - "UPHENO:0076783", - "UPHENO:0075902", - "HP:0012732", - "UPHENO:0002725", - "GO:0050794", - "HP:0012622", - "UBERON:0011216", - "UPHENO:0063632", - "HP:0000083", - "GO:0031327", - "HP:0009127", - "UBERON:0000465", - "UPHENO:0087547", - "UPHENO:0012274", - "UBERON:0000062", + "UBERON:0010323", + "UPHENO:0069391", + "UBERON:0001017", "UPHENO:0026181", - "BFO:0000003", - "HP:0005927", - "HP:0006496", - "UBERON:0002100", - "UPHENO:0050113", - "UPHENO:0001001", - "UPHENO:0049700", - "HP:0006501", - "GO:1901360", - "UPHENO:0076779", + "UPHENO:0002964", + "UBERON:0001032", + "HP:0012443", + "UBERON:0002616", + "HP:0000050", + "UPHENO:0054970", + "HP:0012758", + "HP:0002011", + "UPHENO:0046707", + "UPHENO:0074575", + "UBERON:0000170", + "UPHENO:0076805", + "UPHENO:0080200", + "UBERON:0001890", + "UPHENO:0002476", + "NCBITaxon:33154", + "UBERON:0001893", + "UBERON:0000475", + "UPHENO:0076702", + "UPHENO:0076776", + "NCBITaxon:6072", + "UBERON:0000007", + "UPHENO:0080221", + "HP:0001034", + "UPHENO:0085410", + "HP:0001631", + "UPHENO:0080662", + "HP:0009777", "UBERON:0004921", - "UBERON:5006048", - "UBERON:0001008", - "GO:0043933", - "GO:0010556", - "UPHENO:0081792", - "UPHENO:0087427", - "GO:0043170", - "UBERON:0012141", - "UPHENO:0080126", - "UBERON:0005172", - "GO:0046483", - "UBERON:0001440", - "GO:0034641", - "UBERON:0012475", + "UPHENO:0082682", + "HP:0033127", + "HP:0007400", "UBERON:0000481", - "HP:0011314", - "UBERON:0005173", - "UPHENO:0049874", - "PATO:0000001", - "UPHENO:0086172", - "BFO:0000004", - "UPHENO:0052778", - "UPHENO:0079872", - "UBERON:0002417", - "HP:0025354", - "UPHENO:0049873", - "UPHENO:0049748", - "GO:0065007", - "UBERON:0001423", - "UPHENO:0086201", - "UBERON:0002513", - "UBERON:0000475", - "UBERON:0006058", - "GO:0006996", - "UBERON:0000477", - "UPHENO:0081433", - "HP:0001421", - "UPHENO:0081466", - "UPHENO:0076703", - "GO:0019222", - "UBERON:0001015", - "UPHENO:0001005", - "UPHENO:0086198", - "UBERON:0036295", - "UBERON:0005881", - "GO:0048232", - "UPHENO:0081204", - "HP:0011297", - "UPHENO:0075696", - "GO:0050789", - "UPHENO:0050121", - "HP:0000118", - "HP:0002813", - "UBERON:0000463", - "UPHENO:0001003", - "HP:0003220", - "UBERON:0000026", - "UPHENO:0050845", - "HP:0011017", - "GO:0071840", - "HP:0011805", - "GO:0044237", + "HP:0000957", + "HP:0000002", + "UPHENO:0076740", + "HP:0000953", + "UPHENO:0076684", + "UPHENO:0074589", + "UBERON:0003460", + "HP:0012733", + "GO:0010817", + "GO:0043473", + "UBERON:0004537", + "CL:0000081", + "UBERON:0000064", + "UBERON:0013522", + "HP:0002664", + "UPHENO:0063569", + "HP:0002589", + "UPHENO:0076783", + "HP:0011793", + "UPHENO:0003058", + "UBERON:0004088", + "UBERON:0000025", + "UBERON:0002090", + "HP:0002247", + "UBERON:0000072", + "UPHENO:0080362", + "GO:0006325", + "UPHENO:0063639", + "UPHENO:0053580", + "UPHENO:0081594", "HP:0000035", - "GO:0031326", - "UBERON:0006048", - "UPHENO:0005433", - "BFO:0000002", - "GO:0008152", - "GO:0010605", - "UBERON:0001460", - "GO:0031324", - "UBERON:8450002", - "GO:0010558", - "UBERON:0004708", + "HP:0004322", + "UPHENO:0087973", + "HP:0009380", + "UPHENO:0074228", + "UBERON:0000990", + "UBERON:0002114", + "UPHENO:0082761", + "CL:0000738", + "UBERON:0000160", + "UPHENO:0087427", + "UPHENO:0002808", + "HP:0025031", + "HP:0010461", + "UPHENO:0086621", + "HP:0001671", + "HP:0003026", "CL:0000019", - "HP:0009821", - "UPHENO:0012541", - "GO:0009892", - "BFO:0000015", - "UPHENO:0080079", - "UBERON:0011582", - "UPHENO:0063599", - "UPHENO:0087846", - "UBERON:0001434", - "UPHENO:0002536", - "GO:0009987", - "GO:0090304", - "UBERON:0004535", - "HP:0000119", - "UBERON:0004111", - "HP:0100871", - "UBERON:0000061", - "GO:0060255", - "UPHENO:0049990", - "BFO:0000001", - "UPHENO:0020584", - "UPHENO:0084132", - "UPHENO:0002880", - "UBERON:0000467", - "HP:0040012", - "GO:0048523", + "UPHENO:0081423", + "UBERON:0005409", + "UPHENO:0052231", + "HP:0000028", + "UPHENO:0069523", + "UPHENO:0002725", + "HP:0012718", + "UPHENO:0088337", + "HP:0002244", + "UBERON:0001558", + "UPHENO:0086201", + "UPHENO:0076289", + "UBERON:0010712", + "HP:0000080", + "GO:0048519", + "UBERON:0006058", + "HP:0008772", + "UPHENO:0085874", + "HP:0001871", + "UBERON:0000079", + "UPHENO:0078267", + "HP:0001000", + "UPHENO:0080382", + "GO:0048609", + "HP:0011419", + "GO:0051179", + "GO:0003006", + "UBERON:0003622", + "UBERON:0002471", + "UPHENO:0081755", + "CL:0000586", + "HP:0001627", + "UPHENO:0049970", + "UPHENO:0003055", + "UBERON:0005156", + "GO:0000003", + "HP:0000811", + "UPHENO:0081547", + "HP:0012243", + "UPHENO:0085194", + "HP:0001172", + "HP:0002973", + "UBERON:0011676", + "HP:0000025", + "UPHENO:0049985", + "HP:0000960", + "UBERON:0000463", + "UPHENO:0078729", + "UBERON:0015228", + "UPHENO:0002830", + "UBERON:0004288", + "CL:0000015", + "UPHENO:0002764", + "UPHENO:0002597", + "GO:0007276", + "UBERON:0004176", + "HP:0008669", + "UBERON:0002405", + "UBERON:0003606", + "UPHENO:0021561", + "UPHENO:0086198", + "UPHENO:0077889", + "UPHENO:0079826", + "UPHENO:0002595", + "UBERON:0004122", + "UPHENO:0049940", + "CL:0000413", + "UPHENO:0002332", + "HP:0012874", + "UPHENO:0076718", + "UPHENO:0005651", + "UPHENO:0052778", + "UPHENO:0078452", + "UPHENO:0053298", + "UBERON:0003690", + "HP:0000078", + "HP:0100767", + "UBERON:0001968", + "UBERON:0000473", + "UPHENO:0086005", + "UBERON:0004053", + "UPHENO:0002598", + "UPHENO:0049367", + "HP:0001626", ], "has_phenotype_closure_label": [ - "Abnormal renal physiology", - "Abnormality of the urinary system physiology", - "Stage 5 chronic kidney disease", - "Chronic kidney disease", - "non-functional anatomical entity", - "abnormal anus morphology", - "abnormal anus", - "anus", - "Abnormality of the anus", - "orifice", - "Abnormal anus morphology", + "female organism", + "abnormal female reproductive system", + "Intrauterine growth retardation", + "multicellular organism development", + "delayed biological_process", + "Short stature", "abnormal size of multicellular organism", + "decreased height of the multicellular organism", + "abnormality of multicellular organism height", + "abnormally fused anatomical entity and anatomical entity", + "abnormally fused digit and digit", + "Abnormal 2nd finger morphology", + "digit 2", + "abnormally fused digit and anatomical entity", + "digit 2 plus metapodial segment", + "abnormally fused manual digit 2 and manual digit 3", + "abnormally fused anatomical entity and digit", + "Syndactyly", + "manual digit 2", + "abnormal manual digit 2 morphology", + "Renal hypoplasia", + "decreased size of the kidney", + "decreased embryo development", + "abnormal umbilical blood vessel morphology", + "Fetal ultrasound soft marker", + "entire extraembryonic component", + "Abnormality of the umbilical cord", + "Single umbilical artery", + "developing anatomical structure", + "abnormal late embryo", + "abnormal growth", + "Decreased multicellular organism mass", + "abnormality of multicellular organism mass", + "abnormality of anatomical entity mass", + "erythroid lineage cell", + "erythrocyte", + "abnormal erythrocyte morphology", + "oxygen accumulating cell", + "abnormal penis morphology", + "Hypoplasia of penis", + "External genital hypoplasia", + "Abnormal penis morphology", + "decreased size of the penis", + "anatomical structure development", + "Hypoplastic male external genitalia", + "tissue", + "Bone marrow hypocellularity", + "abnormal hematopoietic system morphology", + "Abnormality of bone marrow cell morphology", + "bone cell", + "conceptus", + "Abnormal blood vessel morphology", + "blood vasculature", + "abnormal great vessel of heart morphology", + "Abnormal morphology of the great vessels", + "heart vasculature", + "thoracic segment blood vessel", + "blood vessel", + "outflow tract", + "Congenital malformation of the great arteries", + "trunk blood vessel", + "abnormal artery morphology in the independent continuant", + "coronary vessel", + "abnormal incomplete closing of the ductus arteriosus", + "vascular system", + "abnormal systemic artery morphology", + "systemic artery", + "Abnormality of the lower urinary tract", + "Functional abnormality of the bladder", + "decreased size of the external male genitalia", + "Abnormal ureter physiology", + "abnormal embryo development", + "Microphallus", + "renal pelvis/ureter", + "bladder organ", + "Abnormality of the amniotic fluid", + "urinary bladder", + "abnormal size of kidney", + "Renal hypoplasia/aplasia", + "abnormal lower urinary tract", + "ureter", + "sac", + "Abnormality of the ureter", + "abnormal penis", + "abnormality of ureter physiology", + "abnormal primary metabolic process", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "regulation of biosynthetic process", + "regulation of cellular metabolic process", + "protein-containing complex organization", + "cellular metabolic process", + "abnormal cellular component organization", + "Chromosome breakage", + "negative regulation of gene expression", + "abnormal metabolic process", + "Abnormality of chromosome stability", + "Abnormal cellular physiology", + "Chromosomal breakage induced by crosslinking agents", + "metabolic process", + "abnormal DNA metabolic process", + "decreased height of the anatomical entity", + "regulation of cellular process", + "Failure to thrive", + "negative regulation of biological process", + "organic cyclic compound metabolic process", + "Placental abruption", + "obsolete heterocycle metabolic process", + "obsolete cellular aromatic compound metabolic process", + "intromittent organ", + "obsolete cellular nitrogen compound metabolic process", + "cellular component organization", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", + "abnormal vascular system morphology", + "negative regulation of macromolecule biosynthetic process", + "negative regulation of cellular biosynthetic process", + "chromatin organization", + "abnormal chromatin organization", + "Pneumonia", + "increased inflammatory response in independent continuant", + "Abnormality of immune system physiology", + "abnormal blood vessel morphology", + "lung", + "decreased growth", + "increased qualitatively inflammatory response", + "respiratory airway", + "Abnormal respiratory system physiology", + "abnormal lung morphology", + "abnormal response to stress", + "Abnormality of prenatal development or birth", + "increased inflammatory response", + "proximo-distal subdivision of respiratory tract", + "abnormal respiratory system", + "Increased inflammatory response", + "Abnormality of the respiratory system", + "abnormality of respiratory system physiology", + "abnormal bone marrow morphology", + "lower respiratory tract", + "response to stress", + "abnormal organelle organization", + "abnormal respiratory system morphology", + "abnormal size of eyeball of camera-type eye", + "abnormal face morphology", + "Abnormal eye morphology", + "abnormal orbital region", + "Abnormality of the face", + "simple eye", + "Abnormality of the eye", + "abnormal face", + "camera-type eye", + "orbital region", + "Abnormality of the orbital region", + "abnormal eyeball of camera-type eye", + "abnormal camera-type eye morphology", + "decreased size of the eyeball of camera-type eye", + "visual system", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormality of the vasculature", + "abnormal growth hormone secretion", + "abnormal biological_process in nervous system", + "abnormal multicellular organism chemical entity level", + "peptide secretion", + "external male genitalia hypoplasia", + "peptide transport", + "chemical entity", + "Abnormal endocrine physiology", + "secretion", + "increased qualitatively response to stimulus", + "signal release", + "regulation of biological process", + "cell communication", + "vasculature of organ", + "Abnormal circulating hormone concentration", + "abnormal secretion in independent continuant", + "Abnormal growth hormone level", + "abnormal inflammatory response", + "neuroendocrine gland", + "lower urinary tract", + "Hypopituitarism", + "decreased secretion in independent continuant", + "regulation of biological quality", + "Abnormal pituitary gland morphology", + "glandular system", + "abnormal independent continuant chemical entity level", + "abnormal pituitary gland morphology", + "gland", + "female reproductive system", + "gland of diencephalon", + "pituitary gland", + "adenohypophysis", + "abnormal blood chemical entity level", + "Abnormality of the diencephalon", + "abnormal role independent continuant level", + "abnormal diencephalon morphology", + "localization", + "cellular process", + "abnormal endocrine gland morphology", + "abnormal endocrine system", + "Abnormality of the endocrine system", + "abnormal diencephalon", + "abnormal urinary bladder", + "regulation of hormone levels", + "transport", + "Decreased response to growth hormone stimulation test", + "decreased biological_process in brain", + "abnormal secretion by cell", + "abnormal hypothalamus-pituitary axis", + "neuroendocrine system", + "peptide hormone secretion", + "Anterior hypopituitarism", + "abnormal hormone blood level", + "abnormal localization", + "Abnormality of metabolism/homeostasis", + "abnormal chemical entity level", + "abnormal transport", + "abnormal middle ear", + "decreased qualitatively sensory perception of mechanical stimulus", + "decreased sensory perception of sound", + "abnormality of middle ear physiology", + "nucleic acid metabolic process", + "abnormal sensory perception of sound", + "Hearing abnormality", + "obsolete nitrogen compound metabolic process", + "Abnormal ear physiology", + "abnormality of urinary bladder physiology", + "Abnormality of the middle ear", + "decreased vibrational conductance of sound to the inner ear", + "multi organ part structure", + "abnormal nitrogen compound metabolic process", + "nervous system process", + "sensory perception of sound", + "system process", + "vibrational conductance of sound to the inner ear", + "Pelvic kidney", + "excretory tube", + "abnormal kidney morphology", + "Ectopic kidney", + "abnormal renal system", + "abdomen element", + "Abnormality of the kidney", + "Abnormal localization of kidney", + "Abnormality of the upper urinary tract", + "renal system", + "excretory system", + "organic substance transport", + "Abnormal platelet count", + "Abnormality of globe size", + "abnormally decreased number of platelet", + "abnormal placenta", + "Abnormal cell morphology", + "abnormal hematopoietic cell morphology", + "abnormally decreased number of myeloid cell", + "great vessel of heart", + "abnormal myeloid cell morphology", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "Abnormal myeloid cell morphology", + "embryo", + "abnormal blood cell", + "abnormal cellular process", + "secretory cell", + "decreased length of manual digit", + "Short digit", + "Short finger", + "Short thumb", + "Abnormality of cardiovascular system morphology", + "vasculature of trunk", + "heart plus pericardium", + "interatrial septum", + "abnormal biological_process in central nervous system", + "primary circulatory organ", + "thoracic cavity element", + "eye", + "Functional abnormality of the middle ear", + "compound organ", + "cardiovascular system", + "abnormal cardiac atrium morphology", + "Abnormality of speech or vocalization", + "skeleton of pectoral complex", + "axial skeleton plus cranial skeleton", + "Growth delay", + "kidney", + "abnormal biological_process", + "aplasia or hypoplasia of external ear", + "abnormality of anatomical entity physiology", + "abnormally fused manual digit and manual digit", + "anatomical entity atresia", + "Abnormality of mental function", + "abnormal cardiovascular system morphology", + "abnormality of nervous system physiology", + "response to stimulus", + "sperm", + "Delayed speech and language development", + "Abnormality of limbs", + "Atypical behavior", + "Abnormal atrial septum morphology", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "biological_process", + "secretion by cell", + "abnormal nervous system", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "digit 1 or 5", + "abnormal interatrial septum morphology", + "abnormal digit", + "thoracic segment of trunk", + "abnormal cardiac atrium morphology in the independent continuant", + "abnormal manus morphology", + "abnormal blood cell morphology", + "pectoral appendage skeleton", + "changed embryo development rate", + "abnormal number of anatomical entities of type anatomical entity in blood", + "abdomen", + "manual digit 1 plus metapodial segment", + "trunk bone", + "umbilical cord", + "autopodial skeleton", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "haemolymphatic fluid", + "digit plus metapodial segment", + "abnormal digit morphology", + "abnormal manus", + "digit", + "Hyperpigmentation of the skin", + "decreased biological_process in independent continuant", + "absent anatomical entity", + "abnormal coronary vessel morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "abnormal skeletal system morphology", + "Abnormal digit morphology", + "abnormal ureter", + "multicellular organismal process", + "Aplasia/hypoplasia involving forearm bones", + "abnormal platelet", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal immune system morphology", + "nitrogen compound transport", + "aplastic anatomical entity", + "decreased length of manual digit 1", + "anterior region of body", + "Absent thumb", + "abnormal ear", + "increased qualitatively inflammatory response in independent continuant", + "abnormal autopod region morphology", + "abnormal bone marrow cell morphology", + "bone of free limb or fin", + "Sacrococcygeal pilonidal abnormality", + "decreased size of the external ear", + "Language impairment", + "agenesis of anatomical entity", + "abnormal role blood level", + "Conductive hearing impairment", + "abnormal anatomical entity morphology in the manus", + "acropodium region", + "skeleton of manus", + "abnormal platelet morphology", + "digit 1", + "Vesicoureteral reflux", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", + "abnormal renal system morphology", + "alimentary part of gastrointestinal system", + "abnormal artery morphology", + "Abnormal forearm morphology", + "abnormal anatomical entity", + "Aplasia/Hypoplasia of the radius", + "endochondral bone", + "Abnormal cardiac septum morphology", + "subdivision of skeleton", + "nervous system", + "forelimb zeugopod bone", + "Abnormality of brain morphology", + "Decreased body weight", + "regulation of metabolic process", + "manual digit 1", + "autopodial extension", + "pair of lungs", + "zeugopod", + "skeletal element", + "subdivision of head", + "appendage girdle complex", + "digit 1 plus metapodial segment", + "abnormal skeletal system", + "decreased size of the radius bone", + "Abnormal cellular phenotype", + "abnormal male reproductive organ morphology", + "occurrent", + "organ", + "appendicular skeleton", + "upper limb segment", + "anucleate cell", + "cardiac septum", + "pectoral complex", + "Abnormality of thrombocytes", + "Upper limb undergrowth", + "abnormal forelimb zeugopod bone", + "limb", + "Finger syndactyly", + "cell", + "Anemia", + "Abnormality of the hand", + "radius bone", + "arm", + "subdivision of skeletal system", + "entity", + "Abnormal vascular morphology", + "abnormal arm", + "head", + "Forearm undergrowth", + "Abnormal appendicular skeleton morphology", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "behavior", "growth", - "decreased height of the anatomical entity", - "decreased size of the multicellular organism", + "Aplasia/hypoplasia involving bones of the upper limbs", + "organ system subdivision", + "aplasia or hypoplasia of manual digit 1", + "system", + "appendicular skeletal system", + "anatomical system", + "arterial system", + "abnormal sensory perception", + "aplasia or hypoplasia of ear", + "decreased biological_process in multicellular organism", + "quality", + "Abnormality of the female genitalia", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "changed biological_process rate in independent continuant", + "Respiratory tract infection", + "absent digit", + "inflammatory response", + "phenotype", + "skeletal system", + "Abnormal endocrine morphology", + "motile cell", + "abnormal cellular metabolic process", + "musculoskeletal system", + "sense organ", + "abnormal limb bone", + "Abnormal nervous system morphology", + "platelet", + "absent sperm in the independent continuant", + "pelvic region element", + "absent anatomical entity in the multicellular organism", + "regulation of macromolecule biosynthetic process", + "Thrombocytopenia", + "multicellular organism", + "hematopoietic system", + "endoderm-derived structure", + "trunk region element", + "Aplasia/Hypoplasia of the external ear", + "embryo development", + "diencephalon", + "abnormal radius bone morphology", + "Hypoplasia of the radius", + "paired limb/fin", + "Aplasia/hypoplasia involving the skeleton", + "abnormal umbilical cord", + "structure with developmental contribution from neural crest", + "negative regulation of biosynthetic process", + "material entity", + "long bone", + "ectoderm-derived structure", + "multi-limb segment region", + "abnormal endocrine system morphology", + "sensory system", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "gonad", + "external ear hypoplasia", + "vessel", + "lateral structure", + "Abnormality of multiple cell lineages in the bone marrow", + "abnormal programmed DNA elimination by chromosome breakage", + "increased biological_process in lung", + "specifically dependent continuant", + "Abnormal cerebral morphology", + "abnormal erythroid lineage cell morphology", + "Abnormal morphology of the radius", + "abnormal head morphology", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "abnormal ductus arteriosus morphology", + "manual digit plus metapodial segment", + "abnormal shape of external ear", + "abnormal limb bone morphology", + "abnormally fused manual digit and anatomical entity", + "Abnormality of head or neck", + "abnormal kidney", + "abnormal reproductive system", + "craniocervical region", + "biogenic amine secreting cell", + "Abnormality of the skeletal system", + "Abnormal forearm bone morphology", + "blood", + "abnormal pigmentation in independent continuant", + "multicellular organismal reproductive process", + "abnormal head", + "systemic arterial system", + "entire sense organ system", + "continuant", + "hormone secretion", + "endocrine system", + "forelimb skeleton", + "decreased qualitatively reproductive process", + "genitourinary system", + "Microtia", + "phenotype by ontology source", + "Microcephaly", + "Abnormality of the musculoskeletal system", + "bone marrow", + "Abnormal cardiac atrium morphology", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Abnormal ear morphology", + "aplasia or hypoplasia of skeleton", + "abnormality of endocrine system physiology", + "non-connected functional system", + "embryonic cardiovascular system", + "organism subdivision", + "Abnormality of the nervous system", + "abnormality of internal male genitalia physiology", + "decreased qualitatively biological_process in independent continuant", + "Neoplasm", + "Abnormal intestine morphology", + "protein-DNA complex organization", + "vestibulo-auditory system", + "hematopoietic cell", + "behavior process", + "abnormal upper urinary tract", + "Limb undergrowth", + "decreased secretion in pituitary gland", + "Aplasia/Hypoplasia of the thumb", + "Abnormal communication", + "abnormality of ear physiology", + "absent anatomical entity in the forelimb", + "multicellular anatomical structure", + "All", + "anatomical collection", + "increased qualitatively biological_process", + "manus", + "negative regulation of cellular process", + "abnormal limb", + "abnormally fused manual digit 2 and anatomical entity", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormality of digestive system morphology", "abnormality of anatomical entity height", - "delayed growth", - "Growth delay", - "Abnormality of body height", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "delayed biological_process", - "External genital hypoplasia", - "cardiovascular system", - "abnormal cardiovascular system morphology", - "circulatory organ", - "viscus", + "subdivision of organism along main body axis", + "small intestine", + "main body axis", + "arterial blood vessel", + "decreased spermatogenesis", + "decreased size of the anatomical entity in the independent continuant", + "anatomical conduit", + "abnormal limb morphology", + "forelimb zeugopod skeleton", + "bone element", + "Abnormality of the ear", + "abnormally decreased number of leukocyte", + "abnormal ear morphology", + "umbilical blood vessel", + "abnormal heart morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", "thoracic segment organ", - "thoracic segment of trunk", - "heart plus pericardium", - "Abnormality of cardiovascular system morphology", - "abnormal cardiovascular system", - "primary circulatory organ", - "structure with developmental contribution from neural crest", - "Deviation of finger", - "Deviation of the hand or of fingers of the hand", - "Short finger", - "decreased length of manual digit", - "decreased length of manual digit 1", - "Short digit", - "decreased length of digit", - "Abnormal reproductive system morphology", - "abnormality of kidney physiology", + "Neurodevelopmental abnormality", + "regulation of gene expression", + "respiratory system", + "pectoral appendage", + "subdivision of organism along appendicular axis", + "establishment of localization", + "cell-cell signaling", + "Abnormal male reproductive system physiology", + "kidney hypoplasia", + "abnormal craniocervical region morphology", + "abnormal reproductive system morphology", + "decreased qualitatively growth", + "Abnormal inflammatory response", + "abnormally decreased number of hematopoietic cell", + "abnormal phenotype by ontology source", + "abnormal development of anatomical entity", + "Abnormal thumb morphology", + "subdivision of trunk", + "body proper", + "anatomical entity hypoplasia in independent continuant", + "shape anatomical entity", + "material anatomical entity", + "skeleton of limb", + "Abnormality of skin pigmentation", + "Patent ductus arteriosus", + "Abnormal pinna morphology", + "decreased qualitatively biological_process in central nervous system", + "abnormal bone of pectoral complex morphology", + "bone of pectoral complex", + "decreased length of anatomical entity", + "limb skeleton subdivision", + "skull", + "absent anatomical entity in the limb", + "Abnormal long bone morphology", + "absent sperm in the semen", + "increased qualitatively biological_process in independent continuant", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "Microphthalmia", + "abnormal external ear morphology", + "postcranial axial skeleton", + "decreased qualitatively developmental process", + "forelimb zeugopod bone hypoplasia", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "forelimb zeugopod", + "abnormal testis morphology", + "abnormal size of anatomical entity", + "Abnormal renal morphology", + "abnormal external genitalia", + "respiration organ", + "Sacral dimple", + "segment of autopod", + "Abnormal fetal morphology", + "abnormal intestine morphology", + "independent continuant", + "abnormally fused anatomical entity and manual digit", + "abnormal leukocyte morphology", + "decreased length of anatomical entity in independent continuant", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "Abnormality of the hypothalamus-pituitary axis", + "abnormal number of anatomical enitites of type anatomical entity", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "limb bone", + "forelimb bone", + "anatomical entity hypoplasia", + "appendage", + "root", + "internal genitalia", + "abnormal behavior", + "radius endochondral element", + "Aplasia/Hypoplasia of the ear", + "Azoospermia", + "mesoderm-derived structure", + "skeleton", + "male gamete generation", + "abnormal neuroendocrine gland morphology", + "endochondral element", "decreased biological_process", - "abnormality of male reproductive system physiology", - "semen", - "developmental process", - "reproduction", - "multicellular organismal process", + "radius bone hypoplasia", + "aplasia or hypoplasia of anatomical entity", + "Polyhydramnios", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal gamete generation", + "leukocyte", + "abnormally decreased number of anatomical entity in the blood", + "ear", + "absent anatomical entity in the independent continuant", + "abnormally localised testis", + "paired limb/fin skeleton", + "Short forearm", + "subdivision of digestive tract", + "penis hypoplasia", + "limb endochondral element", + "abnormal amniotic fluid", + "zeugopodial skeleton", + "limb long bone", + "eyeball of camera-type eye", + "decreased length of forelimb zeugopod bone", + "abnormality of immune system physiology", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "bone of appendage girdle complex", + "serotonin secreting cell", + "abnormal anatomical entity morphology in the appendage girdle complex", + "pigmentation", + "Abnormality of limb bone morphology", + "Abnormality of the vertebral column", + "abnormal bone marrow cell", + "abnormal shape of continuant", + "trunk", + "Macule", + "reproductive system", + "sacral region", "Abnormal testis morphology", - "sexual reproduction", - "developmental process involved in reproduction", - "multicellular organismal reproductive process", - "abnormal reproductive process", - "decreased qualitatively developmental process", + "abnormal integument", + "abnormal role bodily fluid level", + "dorsum", + "testis", + "Skin dimple", + "abnormal fused sacrum morphology", + "2-3 finger syndactyly", + "biological regulation", + "abdominal segment of trunk", + "bone of dorsum", + "abdominal segment element", + "abnormal external male genitalia morphology", + "abnormal vertebral column morphology", + "ductus arteriosus", + "abnormal opening of the anatomical entity", + "dorsal region element", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "spermatogenesis", + "macromolecule metabolic process", + "pelvic region of trunk", + "Neurodevelopmental delay", + "abnormal skin of body", + "Abnormality of the integument", + "aplastic manual digit 1", + "Abnormal sacrum morphology", + "face", + "aplasia or hypoplasia of manual digit", + "cardiac chamber", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", "absent anatomical entity in the semen", - "Short thumb", + "manual digit 2, 3 or 4", + "Fetal anomaly", + "Abnormality of skin morphology", + "integumental system", + "abnormal gland morphology", + "middle ear", + "integument", + "abnormal craniocervical region", + "sacral region of vertebral column", + "organism", + "irregular bone", + "fused sacrum", + "increased biological_process in independent continuant", + "abnormal skin of body morphology", + "bony pelvis", + "Growth abnormality", + "abnormal adenohypophysis", + "axial skeletal system", + "reproductive gland", + "abnormal skull morphology", + "Short long bone", + "reproductive organ", + "decreased developmental process", + "absent manual digit", + "subdivision of vertebral column", + "Abnormality of the gastrointestinal tract", + "vertebral column", + "abnormally fused anatomical entity and manual digit 3", + "telencephalon", + "bone element hypoplasia in independent continuant", "germ line cell", + "Abnormal axial skeleton morphology", + "abnormal vertebral column", + "Leukopenia", + "Abnormality of body weight", + "aplasia or hypoplasia of telencephalon", + "abnormal hematopoietic system", + "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", "gamete generation", - "changed developmental process rate", - "spermatogenesis", - "absent sperm", - "abnormally localised testis", - "abnormal multicellular organismal reproductive process", - "absent gamete", - "reproductive organ", - "organism substance", + "Abnormal nervous system physiology", + "Abnormality of the immune system", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", "Functional abnormality of male internal genitalia", - "decreased spermatogenesis", - "abnormal male reproductive system", - "absent sperm in the semen", - "obsolete multicellular organism reproduction", - "Azoospermia", - "Abnormality of the male genitalia", - "ectoderm-derived structure", - "male gamete", - "abnormality of reproductive system physiology", - "abnormality of anatomical entity physiology", - "sperm", + "abnormal developmental process involved in reproduction", + "heart blood vessel", + "abnormal limb long bone morphology", + "abnormal small intestine morphology", + "eukaryotic cell", + "hemolymphoid system", + "increased inflammatory response in lung", + "nucleate cell", + "abnormal number of anatomical enitites of type cell", + "sensory perception of mechanical stimulus", + "Abnormal upper limb bone morphology", + "skin of body", + "abnormally decreased number of anatomical entity", + "Abnormal immune system morphology", "external genitalia", - "gonad", + "abnormal manual digit 1 morphology", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal immune system", + "abnormally decreased number of cell", + "abnormal cardiac septum morphology", + "organism substance", + "immune system", + "nucleobase-containing compound metabolic process", + "abnormally decreased number of leukocyte in the blood", + "cavitated compound organ", + "Abnormal leukocyte count", + "intestine", + "Abnormal platelet morphology", + "Abnormal leukocyte morphology", + "Abnormal cellular immune system morphology", + "hormone transport", + "abnormal number of anatomical enitites of type platelet", + "abnormal brain morphology", + "abnormally decreased number of anatomical entity in the multicellular organism", + "forelimb", + "Abnormal forebrain morphology", + "bodily fluid", + "multi-tissue structure", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "Abnormal skull morphology", + "regional part of nervous system", + "decreased multicellular organism mass", + "Aplasia/Hypoplasia involving the central nervous system", + "primary metabolic process", + "forelimb endochondral element", + "Abnormality of the skin", + "abnormal duodenum morphology", + "hypothalamus-pituitary axis", + "signaling", + "abnormal anatomical entity morphology in the heart", + "Abnormality of limb bone", + "central nervous system", + "regional part of brain", + "vasculature", + "duodenum atresia", + "external ear", + "abnormal telencephalon morphology", + "Abnormalities of placenta or umbilical cord", + "amide transport", + "forelimb long bone", + "abnormal size of skull", + "Eumetazoa", + "Abnormal umbilical cord blood vessel morphology", + "negative regulation of cellular metabolic process", + "Eukaryota", + "abnormal central nervous system morphology", + "abnormal forebrain morphology", + "abnormal nervous system morphology", + "forebrain", + "blood cell", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "decreased biological_process in pituitary gland", + "endocrine gland", + "cranial skeletal system", + "Decreased head circumference", + "Cafe-au-lait spot", + "Hypermelanotic macule", + "late embryo", + "Gastrointestinal atresia", + "abnormal location of anatomical entity", + "reproduction", + "abnormal anatomical entity morphology", + "abnormally decreased number of anatomical entity in the independent continuant", + "increased pigmentation", + "manual digit 2 plus metapodial segment", + "reproductive structure", + "changed biological_process rate", + "increased biological_process in skin of body", + "Abnormal response to endocrine stimulation test", + "absent germ cell", + "abnormal external ear", + "increased biological_process", + "digit 2, 3 or 4", + "Specific learning disability", + "Abnormality of the anterior pituitary", + "decreased size of the anatomical entity", + "abnormal biological_process in independent continuant", + "abnormal appendicular skeleton morphology", "male organism", - "abnormal reproductive system morphology", - "abnormal male reproductive organ morphology", - "decreased qualitatively biological_process", - "Abnormal spermatogenesis", + "Irregular hyperpigmentation", + "increased pigmentation in independent continuant", + "placenta", + "organic substance metabolic process", + "heart", + "Abnormality of the head", + "abnormal pigmentation", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "Abnormal duodenum morphology", + "abnormal cell morphology", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "organ part", + "defense response", + "subdivision of tube", + "Decreased anatomical entity mass", + "Abnormality of the upper limb", + "Duodenal atresia", + "Neoplasm by anatomical site", + "respiratory tract", + "alimentary part of gastrointestinal system atresia", + "arm bone", + "Intestinal atresia", + "decreased anatomical entity mass", + "Abnormality of the digestive system", + "abnormal forelimb morphology", + "abnormal digestive system morphology", + "penis", + "digestive system element", + "abnormal alimentary part of gastrointestinal system", + "Morphological abnormality of the gastrointestinal tract", + "Abnormality of body height", + "tube", + "abnormal hormone independent continuant level", + "sensory perception", + "abnormal developmental process", + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "duodenum", + "intestine atresia", + "Abnormal placenta morphology", + "digestive tract", + "Abnormal small intestine morphology", + "abnormal digestive system", + "abnormal response to stimulus", + "abnormal closing of the anatomical entity", + "abnormal small intestine", + "organelle organization", + "postcranial axial skeletal system", + "abnormal spermatogenesis", + "limb segment", + "absent sperm", + "Abnormal lung morphology", + "cellular organisms", + "obsolete multicellular organism reproduction", + "delayed growth", + "abnormal cardiac atrium morphology in the heart", + "extraembryonic structure", + "gamete", + "Abnormality of reproductive system physiology", + "artery", + "germ cell", "abnormal internal genitalia", - "external male genitalia", - "testis", "Abnormality of the genital system", - "decreased qualitatively reproductive process", - "Cryptorchidism", - "abnormally localised anatomical entity", - "decreased developmental process", - "abnormal heart morphology", - "abnormal external genitalia", - "abnormal male reproductive system morphology", - "renal pelvis/ureter", - "Abnormal renal pelvis morphology", - "reproductive process", - "Small thenar eminence", - "Fetal anomaly", - "biological_process", - "protein-containing material entity", - "subdivision of skeleton", - "increased size of the anatomical entity in independent continuant", - "appendage musculature", - "digit 1", - "abnormally dilated anatomical entity", - "increased size of the anatomical entity", - "Proximal placement of thumb", - "abnormal renal pelvis", - "anterior region of body", - "renal pelvis", - "autopodial skeleton", - "cellular component organization or biogenesis", - "Phenotypic abnormality", - "abnormal digit morphology", - "Abnormal large intestine morphology", - "abnormally dilated renal pelvis", - "absent anatomical entity", - "abnormal cellular metabolic process", - "rectum", - "acropodium region", - "Finger aplasia", - "digitopodium region", - "skeleton", - "Absent thumb", - "Abnormal digit morphology", - "aplasia or hypoplasia of manual digit", - "autopodial extension", - "Abnormality of reproductive system physiology", - "digit plus metapodial segment", - "Renal insufficiency", - "manual digitopodium region", - "Abnormal heart morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Forearm undergrowth", - "Aplasia/Hypoplasia of fingers", - "abnormal reproductive system", - "reproductive structure", + "disconnected anatomical group", + "abnormal cell", "male reproductive organ", - "Abnormal rectum morphology", - "manual digit 1 or 5", - "digit 1 or 5", - "absent manual digit", - "abnormal digit", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "aplastic anatomical entity", - "agenesis of anatomical entity", + "Abnormal fetal cardiovascular morphology", + "Cryptorchidism", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "abnormal external male genitalia", + "changed biological_process rate in brain", + "haploid cell", + "Abnormality of the outer ear", + "abnormal gamete", + "abnormal male reproductive system", + "semen", + "Abnormal external genitalia", + "abnormally localised anatomical entity in independent continuant", + "male gamete", + "male germ cell", + "Abnormal respiratory system morphology", + "upper urinary tract", + "decreased length of digit", + "manual digitopodium region", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "male reproductive system", + "abnormal number of anatomical enitites of type sperm", "manual digit", - "rectum atresia", - "Abnormal fetal genitourinary system morphology", - "manual digit 1 plus metapodial segment", - "paired limb/fin skeleton", - "Abnormal appendicular skeleton morphology", - "radius bone hypoplasia", - "Aplasia/hypoplasia involving the skeleton", - "palmar/plantar part of autopod", - "Abnormality of male external genitalia", - "Short long bone", - "mesoderm-derived structure", - "phenotype", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "continuant", + "abnormal multicellular organismal reproductive process", + "anatomical entity", + "decreased qualitatively biological_process", + "programmed DNA elimination", + "obsolete cell", + "decreased length of long bone", + "digestive system", + "internal male genitalia", + "growth hormone secretion", + "external male genitalia", "regulation of macromolecule metabolic process", - "aplastic manual digit 1", - "abnormal rectum", - "abnormal limb long bone morphology", - "endochondral element", - "abnormal cell", - "bone element", - "skeleton of limb", - "forelimb zeugopod skeleton", - "male reproductive system", - "limb bone", - "abnormal forelimb zeugopod bone", - "abnormal limb bone morphology", - "abnormal forelimb zeugopod morphology", - "abnormal limb bone", + "abnormal reproductive process", + "absent gamete", + "abnormally localised anatomical entity", + "abnormal vasculature", + "changed developmental process rate", + "abnormal genitourinary system", + "sexual reproduction", + "developmental process involved in reproduction", + "Abnormality of male external genitalia", + "abnormal male reproductive system morphology", + "decreased qualitatively sensory perception of sound", + "abnormal anatomical entity topology in independent continuant", + "Non-obstructive azoospermia", + "reproductive process", + "negative regulation of metabolic process", + "decreased growth hormone secretion", + "manual digit 1 or 5", + "abdominal segment bone", + "developmental process", + "abnormal manual digit morphology in the manus", + "Abnormal internal genitalia", + "amniotic fluid", "Aplasia/hypoplasia of the extremities", - "decreased length of forelimb zeugopod bone", - "Abnormal long bone morphology", - "skeleton of pectoral complex", - "abnormal cellular component organization", - "appendicular skeletal system", - "Aplasia/hypoplasia involving forearm bones", - "external soft tissue zone", - "Abnormal skeletal morphology", - "musculature of upper limb", - "anatomical collection", - "zeugopod", - "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "abnormal bone of pectoral complex morphology", - "aplasia or hypoplasia of skeleton", - "forelimb bone", - "limb long bone", - "trunk", - "digit 1 plus metapodial segment", - "radius endochondral element", - "Deviation of the thumb", - "skeletal element", - "Abnormal upper limb bone morphology", - "digit", - "abdominal segment of trunk", - "Abnormality of the skeletal system", - "bone of free limb or fin", - "Abnormal morphology of the radius", - "arm bone", - "radius bone", - "obsolete cellular nitrogen compound metabolic process", - "Abnormality of prenatal development or birth", - "decreased length of anatomical entity in independent continuant", - "endochondral bone", - "upper urinary tract", - "skeletal system", - "internal genitalia", - "anatomical cluster", + "Atrial septal defect", + "cardiac atrium", + "abnormal incomplete closing of the interatrial septum", + "export from cell", + "Abnormal reproductive system morphology", + "abnormal cardiovascular system", + "viscus", + "circulatory organ", + "bone marrow cell", "circulatory system", - "subdivision of skeletal system", + "paired limb/fin segment", + "septum", + "Abnormality of the bladder", + "abnormality of reproductive system physiology", + "Abnormal heart morphology", + ], + "has_phenotype_count": 34, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0044325", + "category": "biolink:Disease", + "name": "Fanconi anemia, complementation group W", + "full_name": None, + "deprecated": None, + "description": None, + "xref": ["OMIM:617784", "UMLS:C4521564"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": ["FANCW", "Fanconi anemia, complementation group W"], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0002984", + "HP:0009777", + "HP:0000252", + "HP:0002247", + "HP:0002863", + "HP:0001510", + "HP:0002119", + "HP:0001511", + "HP:0001748", + "HP:0000824", + "HP:0002518", + "HP:0002308", + "HP:0031689", + "HP:0011800", + "HP:0000089", + "HP:0410049", + ], + "has_phenotype_label": [ "Hypoplasia of the radius", - "decreased length of long bone", - "Limb undergrowth", - "abnormal developmental process", - "Abnormality of limb bone morphology", - "Abnormal forearm morphology", - "abnormal large intestine morphology", - "abnormal growth", - "increased size of the renal pelvis", + "Absent thumb", + "Microcephaly", + "Duodenal atresia", + "Myelodysplasia", + "Growth delay", + "Ventriculomegaly", + "Intrauterine growth retardation", + "Polysplenia", + "Decreased response to growth hormone stimulation test", + "Abnormal periventricular white matter morphology", + "Chiari malformation", + "Megakaryocyte dysplasia", + "Midface retrusion", + "Renal hypoplasia", + "Abnormal radial ray morphology", + ], + "has_phenotype_closure": [ + "UPHENO:0076779", + "HP:0000079", + "UBERON:0002113", + "UBERON:0011143", + "UPHENO:0075182", + "HP:0008678", + "HP:0010935", + "UPHENO:0081210", + "UBERON:0003103", + "HP:0000077", + "UBERON:0001008", + "UPHENO:0081786", + "HP:0000089", + "UBERON:0001444", + "HP:0011800", + "UPHENO:0087472", + "UBERON:0001456", + "UBERON:0004089", + "UPHENO:0081227", + "UBERON:0000064", + "UPHENO:0002764", + "HP:0009121", + "HP:0011100", + "NCBITaxon:131567", + "UPHENO:0076723", + "UBERON:0004092", + "HP:0012639", + "BFO:0000002", + "UBERON:0002028", + "HP:0002011", + "UBERON:0006558", + "GO:0071705", + "HP:0040195", + "UBERON:0000073", + 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"UBERON:0013522", + "UPHENO:0000543", + "HP:0002664", + "UPHENO:0063569", + "HP:0002589", + "UBERON:0000463", + "UPHENO:0076783", + "UPHENO:0085195", + "UPHENO:0063629", + "HP:0011793", + "UBERON:0011215", + "UBERON:0000025", + "UBERON:0002090", + "HP:0002247", + "UPHENO:0080362", + "UPHENO:0063639", + "UPHENO:0081594", + "HP:0009380", + "UPHENO:0074228", + "UBERON:0000990", + "HP:0009777", + "UBERON:0004921", + "UBERON:0002114", + "UBERON:0000160", + "UBERON:0004733", + "UPHENO:0087427", + "UPHENO:0002808", + "HP:0025031", + "UPHENO:0086621", + "GO:0065007", + "UBERON:0005409", + "UPHENO:0087531", + "UPHENO:0002725", + "HP:0012718", + "UPHENO:0009382", + "UPHENO:0088047", + "HP:0002244", + "HP:0001510", + "UPHENO:0076803", + "HP:0002863", + "HP:0007367", + "HP:0001871", + "HP:0004377", + "UPHENO:0081562", + "UPHENO:0000541", + "BFO:0000003", + "HP:0001507", + "UPHENO:0049874", + "HP:0002597", + "UPHENO:0065599", + "UPHENO:0081598", + "GO:0048856", + "UBERON:0005358", + "UPHENO:0005597", + "UBERON:0005282", + "UBERON:0003947", + "UBERON:0005281", + "UBERON:0000153", + "UBERON:0004086", + "OBI:0100026", + "UPHENO:0001072", + "UPHENO:0076812", + "HP:0002118", + "UPHENO:0001440", + "UPHENO:0080382", + "UPHENO:0005642", + "UPHENO:0081436", + "UPHENO:0080393", + "GO:0009790", + "UPHENO:0050121", + "UBERON:0004121", + "HP:0000924", + "GO:0007275", + "UPHENO:0004459", + "UPHENO:0003116", + "UPHENO:0051804", + "UPHENO:0052778", + "UPHENO:0080220", + "HP:0002715", + "UPHENO:0069110", + "UPHENO:0014240", + "UBERON:0002106", + "HP:0040068", + "UPHENO:0002708", + "HP:0100763", + "UPHENO:0081466", + "CL:0002092", + "UPHENO:0087339", + "UBERON:0002398", + "UBERON:0009569", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0004535", + "UBERON:8600018", + "HP:0031072", + "UPHENO:0075774", + "UPHENO:0001005", + "HP:0000824", + "UPHENO:0002819", + "HP:0001626", + "UBERON:0011249", + "UPHENO:0087267", + "HP:0025408", + "CL:0000988", + "UPHENO:0056059", + "UBERON:0006314", + "UPHENO:0087123", + "UBERON:0001009", + "UBERON:0004177", + "HP:0006265", + "HP:0009799", + "UPHENO:0002948", + "HP:0012210", + "UBERON:0008962", + "UBERON:0001463", + "GO:0071702", + "UBERON:0000916", + "HP:0001511", + "UBERON:0002417", + "UPHENO:0002536", + "GO:0032940", + "GO:0030072", + "UBERON:0005173", + "UBERON:0002389", + "UPHENO:0087349", + "UPHENO:0046538", + "UBERON:0000468", + "HP:0001743", + "GO:0006810", + "UBERON:0005057", + "UPHENO:0073937", + "UBERON:0005177", + "UPHENO:0014335", + "UPHENO:0077872", + "UBERON:0000007", + "UPHENO:0080221", + "HP:0032367", + "HP:0002012", + "GO:0007267", + "UPHENO:0002332", + "UBERON:0003466", + "UBERON:0000949", + "UPHENO:0046284", + "UBERON:0003937", + "UBERON:0005156", + "UPHENO:0080588", + "UBERON:0002386", + "UPHENO:0077887", + "UPHENO:0005652", + "HP:0012503", + "GO:0051179", + "UPHENO:0075220", + "UPHENO:0081628", + "UPHENO:0051668", + "UPHENO:0087355", + "UBERON:0000489", + "UBERON:0010323", + "UPHENO:0083689", + "GO:0007154", + "HP:0031071", + "UBERON:0011299", + "UPHENO:0049587", + "BFO:0000015", + "HP:0011747", + "UPHENO:0042775", + "UBERON:0034923", + "UPHENO:0086735", + "GO:0010817", + "UPHENO:0080126", + "UPHENO:0049927", + "UBERON:0015204", + "UPHENO:0087376", + "GO:0050789", + "UBERON:0002196", + "UPHENO:0046540", + "UBERON:0001894", + "HP:0025461", + "UPHENO:0051763", + "UPHENO:0083951", + "UPHENO:0075772", + "HP:0000818", + "UPHENO:0087516", + "UBERON:0010712", + "UPHENO:0076289", + "UPHENO:0076286", + "HP:0040075", + "GO:0046903", + "UPHENO:0011498", + "UBERON:0004381", + "UPHENO:0077890", + "GO:0030252", + "UBERON:0004122", + "UPHENO:0077889", + "UPHENO:0076287", + "CHEBI:24431", + "HP:0010993", + "UPHENO:0076735", + "GO:0015833", + "UBERON:0002316", + "GO:0002790", + "UPHENO:0076953", + "HP:0002180", + "UBERON:0000454", + "UBERON:0019221", + "HP:0002438", + "HP:0002518", + "HP:0000240", + "UPHENO:0086635", + "UBERON:0003544", + "UPHENO:0088186", + "UBERON:0005162", + "NCBITaxon:6072", + "UPHENO:0021803", + "UBERON:0000063", + "UBERON:0011216", + "HP:0011024", + "HP:0001317", + "UPHENO:0072814", + "UBERON:0004732", + "NCBITaxon:33154", + "UPHENO:0071309", + "UPHENO:0081601", + "UBERON:0002204", + "HP:0011282", + "CL:0000763", + "CL:0000000", + "HP:0025033", + "UPHENO:0088145", + "UBERON:0002371", + "HP:0025354", + ], + "has_phenotype_closure_label": [ + "Abnormal radial ray morphology", + "Abnormality of the genitourinary system", + "Renal hypoplasia", + "abnormal kidney morphology", + "cavitated compound organ", + "abnormal renal system", + "Abnormal renal morphology", + "compound organ", + "decreased size of the kidney", + "Abnormality of the kidney", + "abnormal kidney", + "abnormal size of kidney", + "Renal hypoplasia/aplasia", + "Abnormality of the upper urinary tract", + "renal system", + "genitourinary system", + "excretory system", + "abnormal face morphology", + "Abnormality of the face", + "anatomical entity hypoplasia in face", + "Midface retrusion", + "abnormal midface morphology", + "abnormal face", + "localization", + "Abnormal duodenum morphology", + "abnormal alimentary part of gastrointestinal system morphology", + "Decreased head circumference", "organism", - "Short stature", - "Rectal atresia", - "Abnormality of limb bone", - "Neoplasm by anatomical site", - "Aplasia/hypoplasia involving bones of the hand", - "Morphological abnormality of the gastrointestinal tract", - "large intestine", - "Abnormal male reproductive system physiology", - "gamete", - "organ part", - "Abnormality of the digestive system", - "Abnormal skeletal muscle morphology", - "Abnormality of the gastrointestinal tract", - "anal region", - "Intestinal atresia", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "root", + "appendage", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "abnormal renal system morphology", "alimentary part of gastrointestinal system", - "Neoplasm", - "abnormal location of anatomical entity", - "Abnormality of the musculature of the upper limbs", - "abnormal digestive system", - "subdivision of digestive tract", - "decreased length of anatomical entity", - "abnormal digestive system morphology", - "abnormal external male genitalia", - "late embryo", - "digestive tract", - "material entity", - "abnormal closing of the anatomical entity", - "long bone", - "Abnormal internal genitalia", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "abnormal diencephalon", + "abnormal forebrain morphology", + "secretion", + "Eumetazoa", "Eukaryota", - "Abnormal finger morphology", - "abnormal manual digit 1 morphology", - "abnormal alimentary part of gastrointestinal system", - "Anal atresia", - "abnormal gamete", - "Fetal ultrasound soft marker", - "forelimb zeugopod bone hypoplasia", - "tube", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", + "tissue", + "craniocervical region", + "regional part of brain", + "Abnormality of brain morphology", + "aplasia or hypoplasia of telencephalon", + "abnormal forelimb zeugopod morphology", + "changed biological_process rate in independent continuant", + "Aplasia/Hypoplasia involving the central nervous system", "Abnormality of the cardiovascular system", - "Abnormal cellular physiology", - "abnormal biological_process", - "multi-tissue structure", - "biological regulation", - "organ system subdivision", - "process", + "Abnormal midface morphology", + "regional part of nervous system", + "abnormal anatomical entity morphology in the brain", + "Abnormal skull morphology", + "Abnormal cerebral morphology", + "abnormal anatomical entity morphology", + "specifically dependent continuant", "main body axis", - "aplasia or hypoplasia of radius bone", + "forelimb zeugopod bone", + "nervous system", + "abdominal viscera", + "Abnormality of the head", + "abnormal secretion in independent continuant", "cellular organisms", + "abnormal digit", + "Metazoa", + "Abnormal hand morphology", + "abnormal manual digit morphology in the independent continuant", "absent anatomical entity in the independent continuant", - "subdivision of organism along appendicular axis", - "male gamete generation", - "zeugopodial skeleton", + "abnormal manus morphology", + "pectoral appendage skeleton", + "Finger aplasia", + "autopodial skeleton", + "postcranial axial skeletal system", + "paired limb/fin skeleton", + "haemolymphatic fluid", + "digit plus metapodial segment", + "abnormal digit morphology", + "abnormal manus", + "telencephalon", + "abnormal nervous system", + "secretion by cell", + "digit", + "abnormal hormone blood level", + "abnormal manual digit 1 morphology", + "changed embryo development rate", + "Intrauterine growth retardation", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "protein-containing material entity", + "abnormal skeletal system morphology", + "abnormal biological_process in central nervous system", + "Abnormal digit morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal immune system morphology", + "anterior region of body", + "Absent thumb", + "abnormal autopod region morphology", + "Hematological neoplasm", + "agenesis of anatomical entity", + "ectoderm-derived structure", + "subdivision of organism along main body axis", + "small intestine", + "Abnormal endocrine morphology", + "manus", + "abnormal limb", + "Abnormality of digestive system morphology", + "cerebral subcortex", + "acropodium region", + "bone marrow", + "skeleton of manus", + "digit 1", + "Gastrointestinal atresia", + "anatomical system", + "digit 1 or 5", + "segmental subdivision of hindbrain", + "segment of autopod", + "multicellular organism development", + "reproductive system", + "aplastic manual digit 1", + "abnormal intestine morphology", + "bone cell", + "megakaryocyte", + "independent continuant", + "abnormal growth", + "cerebral hemisphere", + "abnormal size of anatomical entity", + "material anatomical entity", + "manual digit plus metapodial segment", + "Abnormal forearm morphology", "abnormal anatomical entity", + "mesoderm-derived structure", + "anatomical collection", + "All", + "abnormal telencephalon morphology", + "decreased size of the anatomical entity in the independent continuant", + "Abnormal nervous system morphology", + "abnormal limb bone", + "bone element", + "forelimb zeugopod skeleton", "paired limb/fin", - "Gastrointestinal atresia", - "Metazoa", + "Hypoplasia of the radius", + "abnormal head morphology", + "Chiari malformation", + "Abnormal cerebral subcortex morphology", + "Abnormal morphology of the radius", + "multi-limb segment region", + "Forearm undergrowth", + "blood", + "skeletal element", + "zeugopod", + "body proper", + "manual digit", + "Leukoencephalopathy", "pectoral appendage", - "thenar eminence", - "Short forearm", - "abnormal intestine morphology", - "male germ cell", - "lateral structure", + "central nervous system", + "Abnormality of limb bone", + "head", + "increased size of the anatomical entity", "limb", - "paired limb/fin segment", - "Hydronephrosis", - "abnormal manus", - "Dilatation of the renal pelvis", - "abnormal manual digit morphology in the independent continuant", - "anatomical entity atresia", - "abnormal arm", - "Abnormality of the musculature of the hand", - "decreased size of the anatomical entity in the pectoral complex", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "root", - "haploid cell", - "Abnormal renal morphology", - "Abnormality of limbs", - "abnormal alimentary part of gastrointestinal system morphology", - "multi-limb segment region", - "disconnected anatomical group", - "thenar eminence hypoplasia", - "Abnormal intestine morphology", - "abnormal forelimb morphology", - "organ", - "protein-DNA complex organization", - "trunk region element", + "cell", + "abnormal appendicular skeleton morphology", + "Abnormality of skull size", "pectoral complex", - "abnormal thenar eminence", - "abnormal musculature of manus", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormality of the thenar eminence", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the hand", - "subdivision of organism along main body axis", - "abnormal muscle organ morphology", - "Non-obstructive azoospermia", - "absent anatomical entity in the multicellular organism", - "abnormal number of anatomical enitites of type cell", - "abnormal anatomical entity length", - "Abnormality of the musculoskeletal system", - "abnormal rectum morphology", - "abnormally localised anatomical entity in independent continuant", + "trunk region element", + "decreased developmental process", + "zeugopodial skeleton", + "limb long bone", + "Short forearm", + "subdivision of digestive tract", + "delayed biological_process", + "regulation of hormone levels", + "limb endochondral element", + "Abnormality of head or neck", + "hemopoietic organ", + "long bone", + "material entity", + "Abnormal appendicular skeleton morphology", + "Abnormal axial skeleton morphology", + "Abnormal skeletal morphology", + "Abnormal forebrain morphology", + "forelimb", + "decreased size of the anatomical entity in the pectoral complex", + "Aplasia/hypoplasia of the extremities", + "Aplasia/hypoplasia involving bones of the hand", + "bone element hypoplasia in independent continuant", "musculoskeletal system", - "decreased size of the anatomical entity", - "compound organ", - "autopod region", - "abnormal spatial pattern of anatomical entity", - "abnormal limb", - "Abnormal hand morphology", - "forelimb long bone", - "cell", - "phenotype by ontology source", - "abnormal manus morphology", - "abnormal cellular process", - "regulation of biosynthetic process", - "abnormal musculature of upper limb", - "pectoral appendage musculature", - "digestive system", - "musculature", + "absent digit", + "organic substance transport", + "abnormal brain white matter morphology", + "Abnormal hindbrain morphology", + "phenotype", + "brain ventricle/choroid plexus", + "peptide transport", + "Abnormal cell morphology", + "anatomical entity hypoplasia", + "forelimb bone", + "hormone secretion", + "endocrine system", "forelimb skeleton", - "musculature of body", - "bone of appendage girdle complex", - "muscle organ", - "anatomical entity hypoplasia in independent continuant", - "digestive system element", - "non-functional kidney", - "abnormal size of anatomical entity", + "abnormal localization", + "abnormal duodenum morphology", + "forelimb endochondral element", + "abnormal axial skeleton plus cranial skeleton morphology", "Opisthokonta", - "abnormal palmar part of manus morphology", - "abnormal late embryo", - "manual digit 1", - "Abnormality of the musculature of the limbs", - "manual digit plus metapodial segment", + "lymphoid system", + "skeleton of limb", + "Abnormality of the hypothalamus-pituitary axis", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of the lymphatic system", + "limb bone", + "kidney hypoplasia", + "abnormal craniocervical region morphology", + "continuant", + "lateral structure", + "skeleton of pectoral complex", + "decreased length of anatomical entity in independent continuant", + "skeleton", + "abnormal cerebellum morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "forelimb zeugopod", + "anatomical structure development", + "Aplasia/Hypoplasia of fingers", + "abnormal blood chemical entity level", + "digitopodium region", + "subdivision of skeleton", + "Aplasia/Hypoplasia of the radius", + "endochondral bone", + "subdivision of organism along appendicular axis", + "abnormal growth hormone secretion", + "Abnormality of the vasculature", + "abnormal central nervous system morphology", + "skull", "limb skeleton subdivision", - "musculature of limb", - "abnormal musculature of limb", - "negative regulation of macromolecule biosynthetic process", - "Abnormality of the genitourinary system", - "germ cell", - "abnormal spermatogenesis", - "segment of manus", - "musculature of pectoral complex", + "Upper limb undergrowth", + "abnormal forelimb zeugopod bone", + "Phenotypic abnormality", + "decreased length of anatomical entity", + "bone of pectoral complex", + "entity", + "subdivision of skeletal system", + "postcranial axial skeleton", + "decreased qualitatively developmental process", + "abnormal manual digit morphology in the manus", + "Abnormality of the hand", + "radius bone", + "forelimb zeugopod bone hypoplasia", + "abnormal limb bone morphology", + "immune organ", + "abnormal phenotype by ontology source", + "absent manual digit", + "duodenum atresia", + "vasculature", + "abnormal hemopoietic organ morphology", + "organ system subdivision", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "Hypopituitarism", + "brain", "abnormal anatomical entity morphology in the independent continuant", + "aplasia or hypoplasia of manual digit 1", + "system", + "appendicular skeletal system", + "abnormal spleen morphology", + "abnormal chemical entity level", + "absent anatomical entity in the multicellular organism", "multicellular organism", - "abnormality of renal system physiology", - "programmed DNA elimination by chromosome breakage", - "Anorectal anomaly", - "organism subdivision", - "thoracic cavity element", - "Abnormality of the kidney", - "abnormality of internal male genitalia physiology", - "abnormal gamete generation", - "cavitated compound organ", - "abnormal kidney", - "body proper", + "hematopoietic system", + "Abnormal growth hormone level", + "Aplasia/hypoplasia involving the skeleton", + "abnormal anatomical entity morphology in the appendage girdle complex", + "bone of appendage girdle complex", + "anatomical wall", + "abnormal anatomical entity morphology in the pectoral complex", + "cerebellum", + "decreased biological_process", + "radius bone hypoplasia", "aplasia or hypoplasia of anatomical entity", - "forelimb zeugopod bone", - "quality", - "abdomen element", - "subdivision of trunk", - "genitourinary system", - "negative regulation of cellular biosynthetic process", - "anatomical system", - "palmar part of manus", - "abnormal anatomical entity morphology in the palmar part of manus", - "Aplasia/hypoplasia involving bones of the extremities", - "alimentary part of gastrointestinal system atresia", - "abnormal genitourinary system", - "Renal cyst", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "abnormally formed cerebellum", "Abnormal forearm bone morphology", - "regulation of cellular metabolic process", - "regulation of biological process", - "Abnormal thumb morphology", - "arm", - "abnormal limb morphology", - "bone element hypoplasia in independent continuant", - "abnormal anatomical entity morphology", - "primary metabolic process", - "cellular component organization", - "abnormal kidney morphology", - "system", - "negative regulation of macromolecule metabolic process", - "organic substance metabolic process", - "abnormal DNA metabolic process", - "abnormal chromatin organization", - "forelimb", - "embryo", - "appendage", - "musculature of manus", - "material anatomical entity", - "anus atresia", - "abdomen", - "changed biological_process rate", - "abnormal metabolic process", - "abnormal renal pelvis morphology", - "chromatin organization", - "abnormal renal system", - "abnormal musculature", - "abnormal appendicular skeleton morphology", - "Eumetazoa", - "segment of autopod", - "negative regulation of metabolic process", - "nucleobase-containing compound metabolic process", - "abnormal skeletal system morphology", - "obsolete cell", - "deviation of anatomical entity", - "absent sperm in the independent continuant", - "internal male genitalia", - "occurrent", - "regulation of cellular process", - "regulation of gene expression", - "intestine atresia", - "abnormal nitrogen compound metabolic process", - "appendage girdle complex", - "abnormal anatomical entity topology in independent continuant", - "limb segment", - "cellular process", - "forelimb zeugopod", - "cellular metabolic process", - "abnormal skeletal system", - "Abnormal fetal morphology", - "macromolecule metabolic process", - "bone of pectoral complex", - "abnormal upper urinary tract", - "specifically dependent continuant", - "subdivision of tube", - "regulation of metabolic process", - "organic cyclic compound metabolic process", - "obsolete cellular aromatic compound metabolic process", - "abnormal anatomical entity morphology in the manus", - "kidney", + "abnormal metencephalon morphology", + "Abnormality of the skeletal system", + "Microcephaly", + "Abnormality of the musculoskeletal system", + "pituitary gland", + "abnormal nervous system morphology", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "abnormal cell morphology", + "multicellular anatomical structure", "absent anatomical entity in the forelimb", + "abnormally increased number of anatomical entity in the abdomen", + "abnormal arm", + "radius endochondral element", + "Aplasia/hypoplasia involving forearm bones", + "Neurodegeneration", + "multicellular organismal process", + "ventricular system of brain", + "anatomical entity hypoplasia in independent continuant", + "organism subdivision", + "organ", + "occurrent", + "glandular system", + "skeletal system", + "Abnormal cerebellum morphology", + "upper limb segment", "appendicular skeleton", - "All", - "pectoral appendage skeleton", - "Abnormal cellular phenotype", - "abnormal number of anatomical enitites of type sperm", - "Abnormality of the musculature", - "abnormal manual digit morphology in the manus", - "abnormal anatomical entity morphology in the pectoral complex", - "nucleic acid metabolic process", - "decreased size of the anatomical entity in the independent continuant", - "metabolic process", - "decreased size of the radius bone", - "abnormal phenotype by ontology source", - "negative regulation of cellular metabolic process", - "abnormal long bone morphology", - "entity", - "deviation of manual digit 1", - "internal anal region", - "protein-containing complex organization", - "Chromosome breakage", - "Abnormality of the urinary system", + "abnormal upper urinary tract", + "Limb undergrowth", + "abnormal head", + "arm", + "limb segment", + "adenohypophysis", "anatomical structure", - "Abnormality of metabolism/homeostasis", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "decreased size of the radius bone", + "Abnormal cellular phenotype", + "abnormal development of anatomical entity", + "subdivision of trunk", + "Abnormal thumb morphology", + "phenotype by ontology source", + "abnormal endocrine gland morphology", + "digit 1 plus metapodial segment", + "abnormal skeletal system", + "Abnormal upper limb bone morphology", + "quality", + "decreased biological_process in multicellular organism", + "manual digit 1", + "autopodial extension", + "organ part", + "subdivision of tube", + "reproductive organ", + "abnormal skull morphology", + "Short long bone", + "reproductive gland", + "Abnormality of the upper limb", + "Duodenal atresia", + "Neoplasm by anatomical site", + "alimentary part of gastrointestinal system atresia", + "abnormal cerebral hemisphere morphology", + "arm bone", + "Intestinal atresia", + "Abnormality of the gastrointestinal tract", + "Abnormality of the digestive system", + "abnormal limb long bone morphology", + "abnormal small intestine morphology", + "abnormal forelimb morphology", + "abnormal digestive system morphology", + "digestive system element", + "abnormal alimentary part of gastrointestinal system", + "abnormal biological_process in nervous system", + "Morphological abnormality of the gastrointestinal tract", + "abnormal gland morphology", + "tube", + "abnormal hormone independent continuant level", + "brain white matter", + "abnormal developmental process", "intestine", - "abnormal programmed DNA elimination by chromosome breakage", - "lower digestive tract", - "renal system", - "Upper limb undergrowth", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "anatomical conduit", - "deviation of manual digit", - "obsolete nitrogen compound metabolic process", - "Abnormality of the upper urinary tract", - "regulation of cellular biosynthetic process", - "independent continuant", - "abnormal organelle organization", - "excretory system", - "negative regulation of cellular process", - "anatomical entity hypoplasia", - "terminal part of digestive tract", + "upper urinary tract", + "manual digitopodium region", + "Abnormality of blood and blood-forming tissues", + "duodenum", + "intestine atresia", + "Abnormal endocrine physiology", + "digestive tract", + "Neoplasm", + "decreased qualitatively biological_process in independent continuant", + "Abnormal intestine morphology", + "regulation of biological quality", + "Abnormal pituitary gland morphology", + "abnormal cerebral subcortex morphology", + "midface hypoplasia", + "Abnormal small intestine morphology", + "abnormal digestive system", + "metencephalon", + "abnormal closing of the anatomical entity", + "abnormal small intestine", + "anatomical entity atresia", + "abnormality of anatomical entity physiology", + "abnormal hematopoietic system", + "hemolymphoid system", + "Myelodysplasia", + "cell communication", + "biological_process", + "process", + "delayed growth", + "axial skeletal system", + "abnormal adenohypophysis", "Growth abnormality", - "abnormal renal system morphology", - "abnormal developmental process involved in reproduction", - "Abnormal external genitalia", - "muscle structure", - "programmed DNA elimination", - "heart", - "upper limb segment", - "limb endochondral element", + "aplasia or hypoplasia of manual digit", + "face", + "kidney", + "Growth delay", + "abnormal biological_process", + "abnormal role bodily fluid level", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "increased size of the brain ventricle", + "increased size of the anatomical entity in independent continuant", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "organ component layer", + "ventricular system of central nervous system", + "paired limb/fin segment", + "Ventriculomegaly", + "abnormal brain ventricle morphology", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "abnormal brain ventricle/choroid plexus morphology", + "decreased length of forelimb zeugopod bone", + "brain ventricle", + "changed biological_process rate", + "abnormal embryo development", "anatomical entity", - "Abnormal palm morphology", - "abnormal autopod region morphology", - "absent germ cell", - "forelimb endochondral element", - "DNA metabolic process", - "manus", - "abnormal primary metabolic process", - "reproductive system", - "abnormal testis morphology", - "Fetal pyelectasis", - "negative regulation of biosynthetic process", - "absent digit", + "decreased qualitatively biological_process", + "decreased embryo development", + "spleen", + "Abnormality of the immune system", + "vascular system", + "lymphatic part of lymphoid system", + "abnormal genitourinary system", + "changed developmental process rate", + "abnormal vasculature", + "Polysplenia", + "anatomical cluster", + "manual digit 1 plus metapodial segment", + "abdomen", "abdominal segment element", - "obsolete heterocycle metabolic process", - "organelle organization", - "absent anatomical entity in the limb", - "Abnormality of the upper limb", - "Abnormality of digestive system morphology", - "negative regulation of biological process", - "negative regulation of gene expression", + "viscus", + "Supernumerary spleens", + "transport", + "abnormal immune system", + "abnormal hematopoietic system morphology", + "abnormal hindbrain morphology", + "gland", + "abnormal cell", + "disconnected anatomical group", + "abnormally increased number of anatomical entity", + "white matter of telencephalon", + "bone marrow cell", + "circulatory system", + "immune system", + "Abnormal spleen morphology", + "chemical entity", + "cardiovascular system", + "abnormal lymphatic part of lymphoid system", + "peptide secretion", + "abnormal spleen", + "central nervous system cell part cluster", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormality of the abdominal organs", + "anatomical conduit", + "abnormal limb morphology", + "Abnormality of the spleen", + "abdomen element", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "changed biological_process rate in brain", + "abnormally increased number of spleen", + "abnormal transport", + "abnormally increased number of anatomical entity in the independent continuant", + "Anterior hypopituitarism", + "peptide hormone secretion", + "neuroendocrine system", + "absent anatomical entity", + "decreased biological_process in independent continuant", + "abnormal bone marrow morphology", + "abnormal hypothalamus-pituitary axis", + "Abnormal metencephalon morphology", + "non-connected functional system", + "abnormality of endocrine system physiology", + "Decreased response to growth hormone stimulation test", + "regulation of biological process", + "signaling", + "hypothalamus-pituitary axis", + "malformed anatomical entity", + "aplastic anatomical entity", + "nitrogen compound transport", + "Abnormal cerebral white matter morphology", + "Abnormal response to endocrine stimulation test", + "Abnormality of bone marrow cell morphology", + "Abnormality of the endocrine system", + "abnormal cellular process", + "hindbrain", + "abnormal endocrine system", + "multi-tissue structure", + "bodily fluid", + "abnormal diencephalon morphology", + "ventricle of nervous system", + "abnormal role independent continuant level", + "decreased size of the anatomical entity", + "Abnormality of the anterior pituitary", + "abnormal biological_process in independent continuant", + "Abnormality of the diencephalon", + "organism substance", + "gland of diencephalon", + "abnormal pituitary gland morphology", + "abnormal size of brain ventricle", + "abnormal secretion by cell", + "decreased biological_process in brain", + "abnormal independent continuant chemical entity level", + "manual digit 1 or 5", + "developmental process", + "decreased growth hormone secretion", + "abnormal endocrine system morphology", + "decreased secretion in independent continuant", + "abnormal bone of pectoral complex morphology", + "decreased qualitatively biological_process in central nervous system", + "abnormal anatomical entity morphology in the manus", + "abnormal role blood level", + "reproductive structure", + "neuroendocrine gland", + "Abnormal circulating hormone concentration", + "endochondral element", + "abnormal neuroendocrine gland morphology", + "abnormal cardiovascular system", + "export from cell", + "signal release", + "abnormal brain morphology", + "hormone transport", + "endocrine gland", + "cranial skeletal system", + "decreased biological_process in pituitary gland", + "abdominal segment of trunk", + "biological regulation", + "abnormal size of skull", + "forelimb long bone", + "amide transport", + "abnormal multicellular organism chemical entity level", + "Aplasia/Hypoplasia of the thumb", + "decreased secretion in pituitary gland", + "hematopoietic cell", + "growth hormone secretion", + "anatomical entity degeneration in independent continuant", + "establishment of localization", + "cell-cell signaling", + "Abnormal periventricular white matter morphology", + "multi cell part structure", + "cellular process", + "cerebral hemisphere white matter", + "subdivision of head", + "appendage girdle complex", + "abnormal megakaryocyte morphology", + "forebrain", + "white matter of forebrain", + "midface", + "white matter", + "diencephalon", + "abnormal radius bone morphology", + "embryo development", + "cerebral hemisphere white matter degeneration", + "abnormal cerebral hemisphere white matter morphology", + "anatomical entity degeneration", + "Abnormal finger morphology", + "Atrophy/Degeneration affecting the central nervous system", + "decreased length of long bone", + "digestive system", + "Cerebellar malformation", + "organ subunit", + "segmental subdivision of nervous system", + "abnormally formed anatomical entity in independent continuant", + "abnormally formed anatomical entity", + "myeloid cell", + "Megakaryocyte dysplasia", + "Abnormal megakaryocyte morphology", + "trunk", + "abnormal bone marrow cell", ], - "has_phenotype_count": 15, + "has_phenotype_count": 16, "highlight": None, "score": None, }, { - "id": "MONDO:0013565", + "id": "MONDO:0013248", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group G", + "name": "Fanconi anemia complementation group O", "full_name": None, "deprecated": None, - "description": "Fanconi anemia caused by mutations of the FANCG gene.", - "xref": ["DOID:0111086", "GARD:15753", "NCIT:C125708", "OMIM:614082"], + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.", + "xref": ["DOID:0111096", "GARD:15656", "OMIM:613390", "UMLS:C3150653"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, "synonym": [ - "FANCG", - "Fanconi Anemia, complementation group type G", - "Fanconi anaemia complementation group type G", - "Fanconi anemia complementation group G", - "Fanconi anemia complementation group type G", - "Fanconi anemia, complementation group G", + "FANCO", + "Fanconi Anemia, complementation group type O", + "Fanconi anaemia caused by mutation in RAD51C", + "Fanconi anaemia caused by mutation in Rad51C", + "Fanconi anaemia complementation group type O", + "Fanconi anemia caused by mutation in RAD51C", + "Fanconi anemia caused by mutation in Rad51C", + "Fanconi anemia complementation group type O", + "Fanconi anemia, complementation group O", + "RAD51C Fanconi anaemia", + "RAD51C Fanconi anemia", + "Rad51C Fanconi anaemia", + "Rad51C Fanconi anemia", ], "uri": None, "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0001875", - "HP:0002863", - "HP:0000252", - "HP:0001510", - "HP:0001873", - "HP:0007565", - "HP:0000568", - "HP:0001172", - "HP:0001903", - "HP:0003220", - "HP:0001909", + "HP:0040012", + "HP:0002984", + "HP:0009777", + "HP:0001627", + "HP:0001245", + "HP:0002023", + "HP:0000126", + "HP:0000028", + "HP:0009778", + "HP:0009623", + "HP:0000107", + "HP:0003241", + "HP:0004322", + "HP:0003774", + "HP:0025023", ], "has_phenotype_label": [ - "Neutropenia", - "Myelodysplasia", - "Microcephaly", - "Growth delay", - "Thrombocytopenia", - "Multiple cafe-au-lait spots", - "Microphthalmia", - "Abnormal thumb morphology", - "Anemia", - "Abnormality of chromosome stability", - "Leukemia", + "Chromosome breakage", + "Hypoplasia of the radius", + "Absent thumb", + "Abnormal heart morphology", + "Small thenar eminence", + "Anal atresia", + "Hydronephrosis", + "Cryptorchidism", + "Short thumb", + "Proximal placement of thumb", + "Renal cyst", + "External genital hypoplasia", + "Short stature", + "Stage 5 chronic kidney disease", + "Rectal atresia", ], "has_phenotype_closure": [ - "GO:0005623", - "UPHENO:0088162", - "CL:0000329", - "CL:0000764", - "CL:0000232", + "NCBITaxon:33154", + "HP:0002242", + "UPHENO:0002714", + "UPHENO:0087006", + "NCBITaxon:2759", + "UBERON:5001463", + "UPHENO:0009382", + "UBERON:0008837", + "UPHENO:0002905", + "HP:0000077", + "UBERON:0002544", "UPHENO:0086700", - "UPHENO:0002896", - "UBERON:5002544", - "UBERON:0010707", - "HP:0003220", + "UPHENO:0026506", + "UBERON:0019221", + "UPHENO:0081466", + "UBERON:0004765", + "UBERON:0000467", + "UBERON:0001015", + "UPHENO:0080114", + "HP:0001155", + "UBERON:0015001", + "UPHENO:0005433", + "UPHENO:0008523", + "UPHENO:0006910", + "UBERON:0005451", + "UBERON:0001442", + "HP:0000001", + "UPHENO:0018390", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0002101", + "UPHENO:0075195", + "UPHENO:0086132", + "HP:0006501", + "UBERON:0008785", + "GO:0010558", + "UPHENO:0002786", + "UBERON:0004710", + "UPHENO:0075893", + "UPHENO:0050108", + "HP:0000107", "UBERON:0004708", + "UBERON:0000061", + "GO:1901360", + "GO:0032504", + "UPHENO:0075159", + "HP:0040070", + "HP:0033127", + "UBERON:0001630", + "HP:0011425", + "UBERON:0012140", + "UBERON:0010363", + "GO:0044237", + "UBERON:0001474", + "GO:0006259", + "UBERON:0002100", + "UPHENO:0082875", + "UBERON:0010708", + "UPHENO:0084766", + "GO:0046483", + "UBERON:0015212", + "UBERON:0013765", + "UBERON:0012139", + "UPHENO:0012541", + "UBERON:0002204", + "UPHENO:0020041", + "UBERON:0003460", + "UPHENO:0001002", + "HP:0009601", + "UBERON:0003607", + "UBERON:0001423", + "HP:0009826", + "UBERON:0002529", + "UBERON:0006717", + "UPHENO:0001003", + "UPHENO:0076727", + "UPHENO:0084763", + "UPHENO:0020584", + "UBERON:0002091", + "UBERON:0010000", + "UPHENO:0020950", + "UPHENO:0002880", + "UBERON:0012475", + "HP:0009824", + "UPHENO:0088186", + "HP:0009815", + "HP:0006503", + "UBERON:0010758", + "UPHENO:0079872", + "GO:0019953", + "HP:0045060", + "UPHENO:0086633", + "UBERON:0005172", + "UPHENO:0002803", + "UBERON:0011584", + "UBERON:0000026", + "UBERON:0000075", + "UPHENO:0080352", + "UBERON:0015061", + "UPHENO:0002833", + "HP:0011842", + "UPHENO:0075696", + "HP:0000027", + "UPHENO:0069294", + "UPHENO:0080126", + "UBERON:0001440", "HP:0001167", - "UBERON:0010740", - "UBERON:5001463", - "UBERON:0002529", - "UBERON:0004765", "HP:0040064", - "HP:0002817", - "UPHENO:0076740", - "UBERON:0008785", - "UBERON:0002470", - "UPHENO:0002905", - "UBERON:0012140", - "UPHENO:0086635", - "UBERON:0002101", - "UPHENO:0002830", - "UPHENO:0002880", - "UBERON:0002091", - "UBERON:0004381", - "UBERON:0002428", - "UBERON:0002102", - "UBERON:0004375", - "UPHENO:0076727", - "UBERON:0010363", - "UBERON:0001474", - "UBERON:0002544", - "UBERON:5002389", - "UBERON:5006048", - "UBERON:0010708", - "UPHENO:0076724", - "HP:0001155", - "UPHENO:0087006", - "UPHENO:0086633", - "UPHENO:0084766", - "UBERON:0001444", - "HP:0005922", - "UBERON:0000019", - "UBERON:0004456", - "UBERON:0000020", - "UPHENO:0068971", - "HP:0000568", - "UPHENO:0021474", - "HP:0000315", - "UBERON:0001032", - "UPHENO:0003020", - "UPHENO:0075219", - "UPHENO:0075997", - "HP:0012130", - "UBERON:0001463", - "UBERON:0004088", - "HP:0007565", + "UBERON:0002513", + "GO:0031323", + "GO:0022414", + "UPHENO:0080325", + "UPHENO:0002642", + "UPHENO:0081091", + 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"HP:0000252", - "HP:0011875", - "UPHENO:0020888", - "HP:0000924", - "HP:0007400", - "HP:0012443", - "HP:0012639", - "UPHENO:0080221", - "UPHENO:0081435", - "HP:0002060", - "UBERON:0002090", - "UBERON:0005944", - "UBERON:0011138", - "HP:0001875", - "UBERON:0011137", - "UPHENO:0022529", - "UBERON:0034925", - "HP:0002011", - "UPHENO:0076703", - "UBERON:0001456", - "UPHENO:0086176", - "UBERON:0001893", - "UPHENO:0082682", - "NCBITaxon:33154", - "UPHENO:0059829", - "UBERON:0001016", - "HP:0001909", - "HP:0025461", + "GO:0071704", + "GO:0009889", + "HP:0030680", + "UBERON:0000465", + "GO:0044238", + "UPHENO:0087547", + "GO:0008150", + "UBERON:0006866", + "UPHENO:0050116", + "GO:0050789", + "GO:0032501", + "UBERON:0013701", + "GO:0071840", + "HP:0002813", + "HP:0002818", + "HP:0040068", + "UPHENO:0002708", + "GO:0065007", + "GO:0008152", + "BFO:0000015", + "UPHENO:0049587", + "UBERON:0019231", + "UBERON:0002386", + "UBERON:0015021", + "UPHENO:0086635", + "HP:0000812", "UPHENO:0002536", - "UBERON:0001434", - "UPHENO:0088318", - "UBERON:0000481", - "UPHENO:0081566", + "UPHENO:0076692", + "HP:0011017", + "NCBITaxon:33208", + "UPHENO:0080099", + "UBERON:0010741", + "HP:0006265", + "UPHENO:0078606", + "HP:0002023", + "HP:0034057", + "UPHENO:0081424", + "HP:0000079", + "GO:0048523", + "UBERON:0003135", + "UPHENO:0084761", + "UPHENO:0002649", + "UBERON:5006048", + "UBERON:0003133", + "CL:0000019", + "HP:0003026", + "GO:0060255", + "GO:0009890", + "GO:0010629", + "HP:0001626", + "UPHENO:0050021", + "GO:0071824", + "UBERON:0006058", + "GO:0048519", + "UPHENO:0085874", + "GO:0031324", + "UPHENO:0001001", + "HP:0002817", + "GO:0031327", + "HP:0002984", + "UBERON:0000062", "UBERON:0001460", - "UBERON:0000033", - "UPHENO:0069523", - "HP:0002664", - "HP:0011793", - "CL:0000775", - "CL:0000255", - "HP:0032309", + "GO:0040007", + "UPHENO:0008668", + "UPHENO:0068971", + "UBERON:0017716", + "GO:0019222", + "UPHENO:0076783", + "GO:0043933", + "UPHENO:0002896", + "RO:0002577", + "HP:0010461", + "UBERON:5002389", + "BFO:0000003", "PR:000050567", - "UBERON:0000075", - "HP:0100887", - "PATO:0000001", - "UPHENO:0086589", - "CL:0000988", - "UPHENO:0015280", - "HP:0007364", - "UBERON:0010323", - "HP:0000478", - "UPHENO:0085042", - "UPHENO:0085354", - "OBI:0100026", - "UBERON:0010712", - "UPHENO:0085118", - "UPHENO:0001005", - "HP:0011893", - "HP:0000271", - "NCBITaxon:6072", - "UPHENO:0004459", - "HP:0000240", - "UPHENO:0085356", - "HP:0011991", - "CL:0000225", - "UPHENO:0076723", - "UPHENO:0002635", - "CL:0000000", - "HP:0001873", - "UPHENO:0088321", - "UPHENO:0085371", - "UBERON:0006058", - "HP:0001874", - "UPHENO:0084987", - "UPHENO:0086172", - "CL:0002242", - "CL:0000219", - "UPHENO:0087472", - "HP:0011842", - "HP:0001877", - "UBERON:0002193", - "UPHENO:0004523", - "UPHENO:0086019", - "UBERON:0001017", - "UPHENO:0085189", - "HP:0001903", - "UPHENO:0077426", - "HP:0032251", - "UBERON:0002204", - "UBERON:0013701", - "HP:0010987", - "UPHENO:0086045", - "BFO:0000001", - "HP:0001881", - "UPHENO:0060026", - "HP:0000118", - "UPHENO:0063722", - "UBERON:0004710", - "UPHENO:0076692", - "UBERON:0019221", + "GO:0010556", + "UBERON:0007272", + "UPHENO:0088142", "BFO:0000020", - "HP:0002715", - "HP:0010974", - "UPHENO:0001002", - "HP:0001510", - "UBERON:0010538", - "UPHENO:0087123", - "CL:0000738", - "UPHENO:0035025", + "UBERON:0012354", + "UPHENO:0087802", + "UPHENO:0086956", + "UBERON:0000475", + "UPHENO:0053644", + "UBERON:0002470", + "UPHENO:0081790", + "UBERON:0004375", + "UPHENO:0076810", + "HP:0005773", + "UBERON:0002428", + "UBERON:0010740", + "UPHENO:0081792", + "HP:0000126", + "CL:0000300", + "HP:0000083", + "UPHENO:0005597", "HP:0025354", - "UBERON:0000970", - "UPHENO:0006910", - "UPHENO:0088338", - "UBERON:0004120", - "UPHENO:0088166", - "UBERON:0012139", - "UPHENO:0002964", - "UPHENO:0085405", - "UPHENO:0088176", - "HP:0000234", - "UBERON:0001062", - "UPHENO:0086016", - "HP:0000001", - "UPHENO:0080209", - "UBERON:0002405", - 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"UBERON:0002075", + "GO:0006725", + "UPHENO:0087501", + "UBERON:0011582", + "UPHENO:0052178", + "HP:0040072", + "UBERON:0010912", + "UPHENO:0026028", + "UPHENO:0063565", + "UPHENO:0080362", + "UPHENO:0086128", + "UBERON:0002398", + "UBERON:0009569", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0004535", + "UBERON:0003103", + "UBERON:0001009", + "UBERON:0000948", + "NCBITaxon:6072", + "UPHENO:0076776", + "UBERON:0000915", + "UBERON:0005181", + "UBERON:0015410", + "UPHENO:0076803", + "UPHENO:0002655", + "UBERON:0004489", + "UBERON:0002471", + "UPHENO:0081755", + "UPHENO:0002816", + "UBERON:0011143", + "UPHENO:0053580", + "GO:0006325", + "UPHENO:0063639", + "HP:0011844", + "HP:0001227", + "UBERON:0034925", + "HP:0001421", + "UPHENO:0002832", + "GO:0032502", + "UPHENO:0063632", + "HP:0003011", + "HP:0001446", + "UBERON:0000161", + "UPHENO:0084841", + "UBERON:0000383", "UBERON:0006048", - "BFO:0000002", - "UBERON:0000073", - "UBERON:0002104", - "BFO:0000004", - "HP:0000929", - "UPHENO:0085068", - "UBERON:0015061", - "GO:0043473", + "UBERON:0007271", + "HP:0009127", + "UBERON:0007269", + "UBERON:0004480", + "UBERON:0004481", + "HP:0001245", + "HP:0004378", + "UPHENO:0046505", + "UPHENO:0086644", + "UPHENO:0079876", + "UBERON:0001007", + "HP:0011793", + "HP:0025033", + "HP:0011805", + "UPHENO:0086682", + "UBERON:0000025", + "UBERON:0034929", + "HP:0002250", + "HP:0009380", + "UPHENO:0074228", + "UBERON:0000990", + "UPHENO:0084448", + "UBERON:0001245", + "GO:0006807", + "UPHENO:0002839", + "HP:0025031", + "UBERON:0036295", + "UBERON:0004907", + "HP:0000924", + "UBERON:0004121", + "HP:0034915", + "UPHENO:0063599", + "GO:0031326", + "UPHENO:0065599", + "HP:0034058", + "UBERON:0000064", + "UBERON:0001008", + "UPHENO:0015280", + "GO:0016043", + "UPHENO:0075902", + "HP:0010946", + "UPHENO:0080382", + "GO:0048609", + "GO:0003006", + "UBERON:0001224", + "HP:0001197", + "UBERON:0000922", + "HP:0010945", + "UPHENO:0075949", + "UPHENO:0002332", + "HP:0012874", + "UPHENO:0084132", + "UPHENO:0076718", + "UPHENO:0005651", + "HP:0003241", + "HP:0010935", + "UPHENO:0049940", + "HP:0000119", + "UBERON:0007100", + "UPHENO:0005016", + "UBERON:0000323", + "UPHENO:0087427", + "HP:0034242", + "UBERON:8450002", + "UBERON:0000916", + "UBERON:0002417", + "UBERON:0005173", + "OBI:0100026", + "UPHENO:0001072", "UBERON:0034923", - "BFO:0000040", - "UPHENO:0076675", - "CL:0000081", - "UPHENO:0087518", - "HP:0004377", - "UBERON:0019231", - "UBERON:0011249", - "UPHENO:0085076", - "HP:0000953", - "UPHENO:0087089", + "UPHENO:0084834", + "UBERON:0004054", + "UBERON:0008962", + "UBERON:0001463", + "HP:0012210", + "UPHENO:0076779", + "UBERON:0010538", + "UPHENO:0001478", + "UBERON:0010712", + "HP:0000080", + "UPHENO:0077426", + "UBERON:0000079", + "UPHENO:0086201", + "UPHENO:0085873", + "CL:0000586", + "HP:0000028", + "UPHENO:0081423", + "UBERON:0008878", + "UBERON:0005409", + "HP:0001627", + "UPHENO:0049970", + "UPHENO:0003055", + "UBERON:0005156", + "GO:0000003", + "HP:0000811", + "HP:0012243", + "UPHENO:0085194", + "HP:0001172", + "HP:0002973", + "UBERON:0011676", + "HP:0000025", + "UPHENO:0049985", + "HP:0010944", + "HP:0001510", + "UPHENO:0086023", + "UPHENO:0080369", + "CL:0000408", + "GO:0007283", + "UBERON:0000481", "UBERON:0004288", - "UBERON:0012354", - "UBERON:0002390", - "UBERON:0000465", - "HP:0020047", - "UBERON:0000026", - "UPHENO:0087924", - "UPHENO:0001003", - ], - "has_phenotype_closure_label": [ - "Leukemia", - "Abnormality of metabolism/homeostasis", - "oxygen accumulating cell", - "Anemia", - "abnormal erythroid lineage cell morphology", - "abnormal erythrocyte morphology", - "subdivision of organism along appendicular axis", - "forelimb", - "paired limb/fin", - "Abnormal appendicular skeleton morphology", - "pectoral appendage", - "abnormal anatomical entity morphology in the pectoral complex", - "erythrocyte", - "abnormal digit morphology", - "abnormal manus", - "digitopodium region", - "manual digit 1", - "digit 1 plus metapodial segment", - "limb bone", - "abnormal limb", - "abnormal arm", - "Abnormal digit morphology", - "abnormal forelimb morphology", - "autopodial extension", - "digit plus metapodial segment", - "abnormal limb bone morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormal thumb morphology", - "abnormal appendicular skeleton morphology", - "segment of autopod", - "upper limb segment", - "Abnormal erythroid lineage cell morphology", - "manual digit 1 or 5", - "Abnormal hand morphology", - "abnormal manual digit morphology in the independent continuant", - "Abnormal cellular physiology", - "appendage girdle complex", - "limb segment", - "digit 1 or 5", - "endochondral bone", - "bone of appendage girdle complex", - "manual digit", - "Abnormality of limb bone morphology", - "Abnormality of the upper limb", - "Abnormal finger morphology", - "eye", - "orbital region", - "bone of free limb or fin", - "decreased size of the anatomical entity in the independent continuant", - "abnormal size of eyeball of camera-type eye", - "Microphthalmia", - "subdivision of head", - "entire sense organ system", - "Abnormality of the orbital region", - "Abnormal eye morphology", - "eyeball of camera-type eye", - "camera-type eye", - "digit 1", - "simple eye", - "lateral structure", - "Abnormal erythrocyte morphology", - "decreased size of the eyeball of camera-type eye", - "Abnormality of globe size", - "abnormal face", - "integumental system", - "pigmentation", - "manual digitopodium region", - "Macule", - "Abnormality of the integument", - "abnormal pigmentation", - "increased pigmentation in independent continuant", - "Hyperpigmentation of the skin", - "increased qualitatively biological_process in independent continuant", - "Abnormality of chromosome stability", - "Abnormality of skin morphology", - "Abnormality of the skin", - "increased biological_process", - "changed biological_process rate", - "abnormal integument", - "increased biological_process in skin of body", - "increased pigmentation", - "Hypermelanotic macule", - "abnormal pigmentation in independent continuant", - "abnormal biological_process in independent continuant", + "UPHENO:0002830", + "UBERON:0015228", + "CL:0000015", + "UPHENO:0002597", + "GO:0007276", + "UBERON:0000991", + "HP:0011024", + "UBERON:0011216", + "UBERON:0004175", + "UBERON:0004176", + "HP:0008669", + "UBERON:0003606", + "UPHENO:0021561", + "HP:0000035", + "HP:0004322", + "UPHENO:0087973", + "UPHENO:0086198", + "UBERON:0004122", + "UPHENO:0002595", + "CL:0000413", + "CL:0000039", + "GO:0050794", + "UPHENO:0085875", + "UBERON:0014793", + "HP:0009603", + "UBERON:0004111", + "UPHENO:0080377", + "HP:0000032", + "UPHENO:0078729", + "UBERON:0000463", + "UPHENO:0076735", + "UPHENO:0078452", + "UPHENO:0053298", + "UBERON:0001052", + "UBERON:0005090", + "HP:0000078", + "HP:0012622", + "UBERON:0001968", + "UBERON:0005177", + "HP:0011277", + "UBERON:0000473", + "UBERON:0004053", + "UPHENO:0002598", + "UPHENO:0049367", + "UPHENO:0046411", + "UPHENO:0046707", + "HP:0009381", + "UPHENO:0011498", + "UBERON:0004381", + "UPHENO:0046624", + "HP:0009623", + "UBERON:0012361", + "HP:0004097", + "UPHENO:0050101", + "UBERON:0001353", + "HP:0009484", + "UPHENO:0084829", + "UPHENO:0080351", + "GO:0010468", + "UPHENO:0000541", + "UBERON:0003466", + "UPHENO:0069254", + "UPHENO:0076740", + "HP:0100871", + "HP:0000002", + "HP:0001507", + "UPHENO:0049874", + "UPHENO:0000543", + "UBERON:0013522", + "HP:0012211", + "UPHENO:0002411", + "HP:0003774", + "UPHENO:0076773", + "HP:0002589", + "UPHENO:0063629", + "HP:0011100", + "HP:0012732", + "NCBITaxon:1", + "UPHENO:0084124", + "UPHENO:0087346", + "HP:0009777", + "UBERON:0004921", + "UBERON:0000160", + "HP:0002034", + "UPHENO:0002725", + "HP:0012718", + "HP:0025023", + ], + "has_phenotype_closure_label": [ + "rectum atresia", + "abnormal rectum", + "Abnormal intestine morphology", + "lower digestive tract", + "intestine", + "rectum", + "internal anal region", + "abnormal alimentary part of gastrointestinal system", + "Anorectal anomaly", + "Abnormality of the gastrointestinal tract", + "Morphological abnormality of the gastrointestinal tract", + "large intestine", + "subdivision of tube", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "Metazoa", + "Rectal atresia", + "abnormal alimentary part of gastrointestinal system morphology", + "Chronic kidney disease", + "Abnormal renal physiology", + "Renal insufficiency", + "Abnormality of the urinary system physiology", + "Intestinal atresia", + "non-functional kidney", + "growth", + "decreased height of the anatomical entity", + "digestive system element", + "Growth delay", + "decreased size of the multicellular organism", + "Abnormality of body height", + "Renal cyst", + "deviation of manual digit", + "intestine atresia", + "Proximal placement of thumb", + "Eukaryota", + "Eumetazoa", + "decreased length of manual digit", + "decreased length of manual digit 1", + "Short digit", + "Short finger", + "developmental process", + "reproductive process", + "abnormally localised testis", + "abnormal anatomical entity topology in independent continuant", + "abnormal male reproductive system morphology", + "Abnormality of male external genitalia", + "developmental process involved in reproduction", + "abnormally localised anatomical entity", + "abnormal reproductive system", + "absent gamete", + "sperm", + "male organism", + "reproductive structure", + "abnormal reproductive process", + "decreased qualitatively developmental process", + "testis", + "internal male genitalia", + "abnormal multicellular organismal reproductive process", + "abnormal number of anatomical enitites of type sperm", + "Azoospermia", + "Abnormality of the male genitalia", + "male germ cell", + "abnormality of multicellular organism height", + "male gamete", + "abnormally localised anatomical entity in independent continuant", + "abnormal large intestine morphology", + "absent sperm in the independent continuant", + "organism substance", + "semen", + "abnormal male reproductive system", + "male reproductive system", + "reproduction", + "abnormal location of anatomical entity", + "abnormal developmental process involved in reproduction", + "decreased developmental process", + "reproductive organ", + "spermatogenesis", + "gamete generation", + "absent anatomical entity in the semen", + "abnormal gamete", "abnormal number of anatomical enitites of type cell", - "increased qualitatively biological_process", - "manual digit 1 plus metapodial segment", - "sense organ", - "Abnormal cellular immune system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal platelet morphology", - "biogenic amine secreting cell", - "abnormal hematopoietic cell morphology", - "anucleate cell", - "arm", - "abnormal face morphology", - "secretory cell", - "serotonin secreting cell", - "system", - "Abnormality of the hand", - "abnormally decreased number of platelet", - "abnormal platelet", - "Abnormal myeloid cell morphology", - "biological_process", - "skeleton of limb", - "nervous system", - "Growth abnormality", + "external genitalia", + "internal genitalia", + "gonad", + "Abnormality of the genital system", + "abnormal internal genitalia", + "germ cell", + "Abnormality of reproductive system physiology", + "gamete", + "obsolete multicellular organism reproduction", + "absent sperm", + "abnormality of reproductive system physiology", + "abnormal spermatogenesis", + "changed biological_process rate", + "absent germ cell", + "abnormal renal system morphology", + "Abnormality of prenatal development or birth", + "multi-tissue structure", + "External genital hypoplasia", + "abnormally dilated anatomical entity", + "kidney", + "sexual reproduction", + "abnormal genitourinary system", + "increased size of the renal pelvis", + "late embryo", + "abnormal renal system", + "Abnormal renal morphology", + "embryo", + "renal pelvis", + "Abnormality of the kidney", + "renal pelvis/ureter", + "disconnected anatomical group", + "abdominal segment of trunk", + "abdomen", + "decreased length of digit", + "anatomical cluster", + "Abnormality of the upper urinary tract", + "renal system", + "Abnormal fetal genitourinary system morphology", + "organ part", + "increased size of the anatomical entity in independent continuant", + "Abnormal fetal morphology", + "Abnormal renal pelvis morphology", + "abnormally dilated renal pelvis", + "abnormal late embryo", + "Fetal pyelectasis", + "abnormal renal pelvis", + "abnormal renal pelvis morphology", + "abnormal external male genitalia", + "Fetal anomaly", + "upper urinary tract", + "Anal atresia", + "Dilatation of the renal pelvis", + "anus atresia", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "abnormal anus", + "abnormal closing of the anatomical entity", + "abnormal digestive system", + "deviation of manual digit 1", + "digestive tract", + "multicellular organismal reproductive process", + "anatomical conduit", + "anus", + "abnormal digestive system morphology", + "Neoplasm by anatomical site", + "digestive system", + "abnormality of male reproductive system physiology", + "abnormal developmental process", + "tube", + "abnormal muscle organ morphology", + "musculature of upper limb", + "haploid cell", + "appendage musculature", + "musculature of body", + "Abnormality of the musculature of the upper limbs", + "cavitated compound organ", + "abnormal musculature of upper limb", + "Abnormality of the musculature of the limbs", + "Abnormality of the musculature of the hand", + "germ line cell", + "thenar eminence hypoplasia", + "Abnormal palm morphology", + "musculature", + "Abnormality of the thenar eminence", + "abnormal musculature of limb", + "Abnormal rectum morphology", + "Abnormal testis morphology", + "Abnormal skeletal muscle morphology", + "musculature of manus", + "abnormal musculature", + "abnormal heart morphology", + "Cryptorchidism", + "heart plus pericardium", + "Abnormal heart morphology", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "Fetal ultrasound soft marker", + "excretory system", + "circulatory system", "body proper", - "Abnormality of brain morphology", - "manus", - "Abnormal cell morphology", - "Abnormal forebrain morphology", - "Aplasia/Hypoplasia of the cerebrum", - "increased pigmentation in skin of body", - "material entity", - "abnormal blood cell morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "organ", - "organism subdivision", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormal nervous system morphology", - "abnormal telencephalon morphology", - "quality", + "abnormal cardiovascular system morphology", + "circulatory organ", + "viscus", + "Gastrointestinal atresia", + "trunk", + "limb endochondral element", + "subdivision of digestive tract", + "delayed biological_process", + "Short forearm", + "increased size of the anatomical entity", + "abnormal limb bone", + "limb bone", + "abnormal number of anatomical enitites of type anatomical entity", + "Deviation of the thumb", + "Abnormal male reproductive system physiology", + "subdivision of organism along appendicular axis", + "radius bone hypoplasia", + "Functional abnormality of male internal genitalia", + "abnormal anatomical entity morphology in the pectoral complex", "aplasia or hypoplasia of anatomical entity", - "process", - "cellular organisms", - "multi-tissue structure", - "main body axis", - "delayed growth", - "organism", - "manual digit plus metapodial segment", - "limb skeleton subdivision", - "face", - "Microcephaly", - "immune system", - "abnormal craniocervical region", - "paired limb/fin skeleton", - "Abnormal cerebral morphology", - "pectoral complex", + "abnormal appendicular skeleton morphology", + "endochondral element", + "pectoral appendage", + "Deviation of the hand or of fingers of the hand", + "abnormal primary metabolic process", + "Stage 5 chronic kidney disease", + "abnormal musculature of manus", + "mesoderm-derived structure", + "abnormal forelimb morphology", + "abnormal long bone morphology", + "forelimb zeugopod bone hypoplasia", + "anatomical entity hypoplasia in independent continuant", + "abnormality of internal male genitalia physiology", + "organism subdivision", "Abnormality of the musculoskeletal system", - "anterior region of body", - "paired limb/fin segment", - "abnormally decreased number of neutrophil", - "abnormally decreased number of hematopoietic cell", - "forebrain", - "Abnormality of the eye", - "telencephalon", - "obsolete cell", - "occurrent", - "abnormal skeletal system morphology", - "anatomical collection", - "Abnormality of skull size", - "abnormal skull morphology", - "regional part of brain", - "autopod region", - "decreased size of the anatomical entity", - "abnormal camera-type eye morphology", - "musculoskeletal system", + "Limb undergrowth", + "ectoderm-derived structure", + "structure with developmental contribution from neural crest", + "long bone", + "abnormal testis morphology", + "forelimb zeugopod", + "male reproductive organ", + "cellular component organization or biogenesis", "multicellular anatomical structure", - "skull", - "Eukaryota", - "growth", - "limb", - "abnormal nervous system", - "Abnormal axial skeleton morphology", - "eukaryotic cell", - "abnormal growth", - "abnormal autopod region morphology", - "abnormal head", - "erythroid lineage cell", - "abnormal size of anatomical entity", - "abnormal number of anatomical enitites of type platelet", - "abnormal forebrain morphology", - "Growth delay", - "Abnormality of limbs", + "forelimb endochondral element", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "decreased length of anatomical entity in independent continuant", + "skeleton of pectoral complex", + "abnormal anus morphology", + "Abnormality of metabolism/homeostasis", + "musculature of limb", + "negative regulation of biosynthetic process", + "decreased length of forelimb zeugopod bone", + "orifice", + "DNA metabolic process", + "regulation of macromolecule biosynthetic process", + "alimentary part of gastrointestinal system", + "Abnormal reproductive system morphology", + "muscle organ", + "abnormal anatomical entity length", + "musculature of pectoral complex", + "thoracic cavity element", + "multicellular organism", + "absent anatomical entity in the multicellular organism", + "abnormal organelle organization", + "cellular organisms", + "Abnormality of the musculature", + "thoracic segment of trunk", + "abnormal digit", + "programmed DNA elimination", + "digit", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormality of anatomical entity height", + "bone of appendage girdle complex", + "metabolic process", + "multi-limb segment region", + "abnormal cellular process", "root", - "Abnormal neutrophil count", - "abnormal central nervous system morphology", - "abnormal size of skull", - "head", - "abnormally decreased number of granulocyte", - "organ system subdivision", - "Abnormal skull morphology", - "sensory system", - "skeletal system", - "regional part of nervous system", - "Abnormal granulocyte morphology", - "subdivision of skeleton", - "subdivision of skeletal system", - "ectoderm-derived structure", - "appendicular skeletal system", - "Abnormality of the nervous system", - "changed biological_process rate in independent continuant", - "abnormal craniocervical region morphology", - "Abnormality of limb bone", - "Neoplasm by anatomical site", - "craniocervical region", - "abnormally decreased number of myeloid cell in the independent continuant", - "Neoplasm", - "cranial skeletal system", - "abnormal neutrophil", - "Hematological neoplasm", - "Myelodysplasia", - "abnormal anatomical entity morphology", - "abnormal biological_process", - "Abnormal leukocyte morphology", - "abnormal blood cell", - "segment of manus", - "abnormally decreased number of cell in the independent continuant", - "abnormal immune system morphology", - "nucleate cell", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Abnormal cellular phenotype", - "hematopoietic system", - "blood cell", - "postcranial axial skeletal system", - "appendicular skeleton", - "All", - "Eumetazoa", - "leukocyte", - "abnormal manual digit 1 morphology", + "appendage", + "Abnormal upper limb bone morphology", + "abnormality of kidney physiology", + "negative regulation of cellular biosynthetic process", + "Abnormal internal genitalia", + "regulation of cellular process", + "decreased height of the multicellular organism", + "Short long bone", + "male gamete generation", "skeleton", - "mesoderm-derived structure", - "acropodium region", - "Abnormality of the face", - "abnormal leukocyte morphology", - "abnormal hematopoietic system", - "Decreased head circumference", - "specifically dependent continuant", - "multi-limb segment region", - "Localized skin lesion", - "Abnormal immune system morphology", - "abnormal immune system", - "abnormally decreased number of myeloid cell", - "abnormal head morphology", - "visual system", - "motile cell", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "Cafe-au-lait spot", - "abnormal granulocyte morphology", - "hematopoietic cell", - "abnormal number of anatomical enitites of type leukocyte", - "Aplasia/Hypoplasia affecting the eye", - "protein-containing material entity", - "disconnected anatomical group", - "Neutropenia", - "abnormal skeletal system", - "abnormal manual digit morphology in the manus", - "abnormal cell", - "hemolymphoid system", - "abnormal anatomical entity morphology in the brain", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal manus morphology", + "Abnormal external genitalia", + "negative regulation of biological process", + "abnormal growth", + "independent continuant", + "abnormal intestine morphology", + "aplastic manual digit 1", + "reproductive system", + "organic cyclic compound metabolic process", + "segment of autopod", + "anal region", + "paired limb/fin skeleton", + "Growth abnormality", + "abnormal palmar part of manus morphology", + "programmed DNA elimination by chromosome breakage", + "regulation of gene expression", + "Small thenar eminence", + "obsolete cellular nitrogen compound metabolic process", + "organelle organization", + "Abnormal anus morphology", + "protein-DNA complex organization", + "arm", + "abnormal kidney", + "Abnormality of chromosome stability", + "abnormal manus", "phenotype by ontology source", - "integument", - "abnormal number of anatomical enitites of type anatomical entity", - "metabolic process", - "digit", + "Abnormal thumb morphology", + "abnormal reproductive system morphology", "Phenotypic abnormality", - "postcranial axial skeleton", - "Multiple cafe-au-lait spots", - "myeloid cell", - "increased biological_process in independent continuant", - "abnormal number of anatomical enitites of type granulocyte", - "abnormally decreased number of cell", - "neutrophil", - "abnormal orbital region", - "independent continuant", - "Abnormality of blood and blood-forming tissues", - "anatomical structure", - "Abnormal granulocyte count", + "negative regulation of gene expression", + "Abnormality of the digestive system", + "regulation of macromolecule metabolic process", + "acropodium region", + "anatomical entity", + "palmar part of manus", + "Aplasia/hypoplasia involving the skeleton", + "Deviation of finger", + "negative regulation of metabolic process", + "alimentary part of gastrointestinal system atresia", + "cellular component organization", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abdominal segment element", + "abnormal thenar eminence", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "bone of pectoral complex", "entity", - "abnormal limb morphology", - "brain", - "abnormal myeloid leukocyte morphology", - "Abnormal leukocyte count", - "phenotype", + "subdivision of skeletal system", + "biological_process", + "Abnormal forearm bone morphology", "Abnormality of the skeletal system", - "platelet", - "subdivision of organism along main body axis", - "abnormally decreased number of leukocyte", + "terminal part of digestive tract", + "absent anatomical entity in the limb", "continuant", - "aplasia or hypoplasia of telencephalon", - "Abnormality of the immune system", - "limb endochondral element", - "anatomical entity", - "Abnormal platelet count", - "anatomical system", - "Abnormal platelet morphology", - "Irregular hyperpigmentation", - "central nervous system", - "endochondral element", - "Abnormality of neutrophils", - "cell", - "structure with developmental contribution from neural crest", - "Abnormality of skin pigmentation", - "abnormally decreased number of granulocyte in the independent continuant", - "abnormally decreased number of anatomical entity in the independent continuant", - "axial skeleton plus cranial skeleton", - "Abnormal skeletal morphology", - "abnormal skin of body morphology", - "skeletal element", - "Abnormality of the head", - "abnormal anatomical entity", - "axial skeletal system", - "appendage", + "Abnormality of limbs", + "Short stature", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", + "anatomical entity hypoplasia", + "obsolete heterocycle metabolic process", + "non-functional anatomical entity", + "thoracic segment organ", + "aplasia or hypoplasia of radius bone", + "abnormal spatial pattern of anatomical entity", + "protein-containing complex organization", + "material entity", + "abdomen element", + "negative regulation of cellular metabolic process", + "appendicular skeletal system", + "anatomical structure", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "upper limb segment", + "appendicular skeleton", + "subdivision of organism along main body axis", + "abnormal biological_process", + "abnormal cell", + "macromolecule metabolic process", + "appendage girdle complex", + "Abnormal long bone morphology", + "skeleton of limb", + "muscle structure", "material anatomical entity", - "Morphological central nervous system abnormality", - "abnormal number of anatomical enitites of type myeloid cell", - "Metazoa", - "granulocyte", - "multicellular organism", - "abnormal cell morphology", - "Opisthokonta", - "abnormally decreased number of anatomical entity", - "abnormal eyeball of camera-type eye", - "Abnormality of thrombocytes", - "abnormal axial skeleton plus cranial skeleton morphology", - "Abnormal myeloid leukocyte morphology", - "Thrombocytopenia", - "skin of body", - "non-connected functional system", + "external male genitalia", + "chromatin organization", + "pectoral appendage musculature", + "abnormal metabolic process", + "abnormal forelimb zeugopod morphology", + "cellular metabolic process", + "Non-obstructive azoospermia", + "biological regulation", + "regulation of cellular biosynthetic process", + "forelimb zeugopod skeleton", + "abnormal limb morphology", + "regulation of metabolic process", + "Abnormality of limb bone morphology", + "regulation of cellular metabolic process", + "abnormality of renal system physiology", + "quality", + "regulation of biological process", + "changed developmental process rate", + "lateral structure", + "abnormal anatomical entity morphology in the independent continuant", + "limb segment", + "abnormal anatomical entity morphology in the palmar part of manus", + "subdivision of trunk", "abnormal phenotype by ontology source", - "abnormal skin of body", - "abnormal digit", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal myeloid cell morphology", + "absent manual digit", + "abnormal chromatin organization", + "Chromosome breakage", + "Hypoplasia of the radius", + "paired limb/fin", + "decreased size of the anatomical entity in the independent continuant", + "abnormal size of multicellular organism", + "bone element", + "All", + "anatomical collection", + "abnormal programmed DNA elimination by chromosome breakage", + "negative regulation of cellular process", + "decreased qualitatively reproductive process", + "genitourinary system", + "forelimb skeleton", + "Abnormal cellular physiology", + "organic substance metabolic process", + "obsolete nitrogen compound metabolic process", + "abnormal upper urinary tract", + "musculoskeletal system", + "delayed growth", + "abnormal cardiovascular system", + "skeletal system", + "phenotype", + "nucleobase-containing compound metabolic process", + "absent digit", + "decreased length of long bone", + "primary metabolic process", + "skeletal element", + "zeugopod", + "autopodial extension", + "bone element hypoplasia in independent continuant", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "process", + "nucleic acid metabolic process", + "aplasia or hypoplasia of skeleton", + "forelimb", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal large intestine morphology", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "arm bone", + "abnormal rectum morphology", + "abnormal limb long bone morphology", + "manual digit plus metapodial segment", + "abnormal limb bone morphology", + "radius endochondral element", + "Abnormality of digestive system morphology", + "thenar eminence", + "manus", + "abnormal limb", + "compound organ", + "zeugopodial skeleton", + "obsolete cell", + "limb long bone", + "Abnormality of the urinary system", + "forelimb bone", + "abnormal radius bone morphology", + "system", + "aplasia or hypoplasia of manual digit 1", + "Abnormality of the anus", + "organ system subdivision", + "abnormal gamete generation", + "Abnormal morphology of the radius", + "manual digit", + "Abnormal appendicular skeleton morphology", + "decreased size of the anatomical entity", + "Forearm undergrowth", + "palmar/plantar part of autopod", + "external soft tissue zone", + "Abnormality of limb bone", + "abnormal arm", + "absent anatomical entity in the forelimb", + "occurrent", + "organ", + "heart", + "abnormal manual digit morphology in the manus", + "abnormal DNA metabolic process", + "radius bone", + "deviation of anatomical entity", + "multicellular organismal process", + "obsolete cellular aromatic compound metabolic process", + "Aplasia/hypoplasia involving forearm bones", + "forelimb long bone", + "absent sperm in the semen", + "Hydronephrosis", + "decreased length of anatomical entity", + "Abnormality of cardiovascular system morphology", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "limb", + "cell", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "abnormal forelimb zeugopod bone", + "Upper limb undergrowth", + "limb skeleton subdivision", + "trunk region element", + "pectoral complex", + "Opisthokonta", + "paired limb/fin segment", + "Abnormal cellular phenotype", + "decreased size of the radius bone", + "abnormal skeletal system", + "forelimb zeugopod bone", + "subdivision of skeleton", + "endochondral bone", + "Aplasia/Hypoplasia of the radius", + "abnormal anatomical entity", + "Abnormal forearm morphology", + "abnormal external genitalia", + "abnormal size of anatomical entity", + "anatomical system", + "digit 1", + "aplasia or hypoplasia of manual digit", + "organism", + "autopod region", + "skeleton of manus", + "cardiovascular system", + "manual digitopodium region", "abnormal anatomical entity morphology in the manus", - "delayed biological_process", - "bone element", - "abnormal nervous system morphology", - "Abnormality of head or neck", - "abnormal limb bone", - "abnormal brain morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "abnormal anatomical entity morphology in the independent continuant", - "myeloid leukocyte", + "agenesis of anatomical entity", + "Abnormality of the hand", + "abnormal autopod region morphology", + "bone of free limb or fin", + "Absent thumb", + "anterior region of body", + "aplastic anatomical entity", + "Aplasia/hypoplasia involving bones of the extremities", + "manual digit 1", + "protein-containing material entity", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "cellular process", + "Abnormal digit morphology", + "absent anatomical entity", + "Short thumb", + "abnormal manual digit 1 morphology", + "digit 1 plus metapodial segment", + "abnormal digit morphology", + "digit plus metapodial segment", + "Abnormal finger morphology", + "abnormal male reproductive organ morphology", + "autopodial skeleton", + "Finger aplasia", + "manual digit 1 plus metapodial segment", + "Neoplasm", + "manual digit 1 or 5", + "pectoral appendage skeleton", + "abnormal manus morphology", + "primary circulatory organ", + "digit 1 or 5", + "Aplasia/Hypoplasia of the thumb", + "regulation of biosynthetic process", + "absent anatomical entity in the independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Abnormal spermatogenesis", + "Abnormal hand morphology", + "decreased spermatogenesis", + "abnormal kidney morphology", + "main body axis", ], - "has_phenotype_count": 11, + "has_phenotype_count": 15, "highlight": None, "score": None, }, { - "id": "MONDO:0014986", + "id": "MONDO:0010351", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group R", + "name": "Fanconi anemia complementation group B", "full_name": None, "deprecated": None, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene.", - "xref": ["DOID:0111090", "GARD:16214", "OMIM:617244", "UMLS:C4284093"], + "description": "Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.", + "xref": ["DOID:0111098", "GARD:15257", "MESH:C564497", "NCIT:C125703", "OMIM:300514", "UMLS:C1845292"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, "synonym": [ - "FANCR", - "Fanconi Anemia, complementation group R", - "Fanconi Anemia, complementation group type R", - "Fanconi anaemia caused by mutation in RAD51", - "Fanconi anaemia complementation group type R", - "Fanconi anemia caused by mutation in RAD51", - "Fanconi anemia complementation group type R", - "Fanconi anemia, complementation GROUP R", - "RAD51 Fanconi anaemia", - "RAD51 Fanconi anemia", + "FA2", + "FACB", + "FANCB", + "Fanconi Anemia, complementation group type B", + "Fanconi anaemia complementation group type B", + "Fanconi anemia complementation group B", + "Fanconi anemia complementation group type B", + "Fanconi anemia, complementation group B", + "Fanconi anemia, complementation group B, X-linked recessive", + "Fanconi pancytopenia type 2", + "Fanconi pancytopenia, type 2", ], "uri": None, "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0001249", - "HP:0000252", + "HP:0000470", "HP:0009777", + "HP:0002575", + "HP:0001249", "HP:0000238", + "HP:0000369", + "HP:0002101", + "HP:0000815", + "HP:0002247", "HP:0001510", - "HP:0006349", - "HP:0000125", - "HP:0005528", - "HP:0006433", - "HP:0000568", - "HP:0007099", - "HP:0001903", - "HP:0003221", - "HP:0031936", - "HP:0002144", - "HP:0002650", - "HP:0002023", - "HP:0003764", + "HP:0007766", + "HP:0002119", + "HP:0000104", + "HP:0001873", + "HP:0001915", + "HP:0001680", + "HP:0002032", + "HP:0003220", + "HP:0001321", + "HP:0002079", + "HP:0000054", + "HP:0000396", + "HP:0003468", + "HP:0000135", + "HP:0004977", + "HP:0001643", + "HP:0001629", + "HP:0001195", + "HP:0002188", + "HP:0001511", ], "has_phenotype_label": [ - "Intellectual disability", - "Microcephaly", + "Short neck", "Absent thumb", + "Tracheoesophageal fistula", + "Intellectual disability", "Hydrocephalus", + "Low-set ears", + "Abnormal lung lobation", + "Hypergonadotropic hypogonadism", + "Duodenal atresia", "Growth delay", - "Agenesis of permanent teeth", - "Pelvic kidney", - "Bone marrow hypocellularity", - "Radial dysplasia", - "Microphthalmia", - "Chiari type I malformation", - "Anemia", - "Chromosomal breakage induced by crosslinking agents", - "Delayed ability to walk", - "Tethered cord", - "Scoliosis", - "Anal atresia", - "Nevus", + "Optic disc hypoplasia", + "Ventriculomegaly", + "Renal agenesis", + "Thrombocytopenia", + "Aplastic anemia", + "Coarctation of aorta", + "Esophageal atresia", + "Abnormality of chromosome stability", + "Cerebellar hypoplasia", + "Hypoplasia of the corpus callosum", + "Micropenis", + "Overfolded helix", + "Abnormal vertebral morphology", + "Hypogonadism", + "Bilateral radial aplasia", + "Patent ductus arteriosus", + "Ventricular septal defect", + "Single umbilical artery", + "Delayed CNS myelination", + "Intrauterine growth retardation", ], "has_phenotype_closure": [ - "UBERON:0002416", - "UPHENO:0003811", - "HP:0000951", - "HP:0011121", - "UPHENO:0076739", - "UBERON:0001245", - "UBERON:0000161", - "HP:0002023", - "HP:0000925", - "UPHENO:0002813", - "UPHENO:0074228", - "UBERON:0001130", - "HP:0010674", - "UBERON:0002240", - "UBERON:0005174", - "HP:0002144", - "UPHENO:0087858", - "HP:0002143", - "HP:0031936", - "GO:0010468", - "GO:0010558", - "GO:0031327", - "GO:0006325", - "GO:0019222", - "GO:0006139", - "GO:1901360", - "GO:0046483", - "GO:0006725", - "HP:0012758", - "GO:0034641", - "HP:0040012", - "UPHENO:0050845", - "HP:0031938", - "UPHENO:0049990", - "GO:0031049", - "GO:0065007", - "GO:0008152", - "GO:0009987", - "UPHENO:0049748", - "UPHENO:0049700", - "HP:0001574", - "GO:0044237", - "GO:0071840", - "HP:0001939", - "UPHENO:0050113", + "UPHENO:0052778", + "GO:0009790", + "UPHENO:0005433", + "UPHENO:0080393", + "UPHENO:0081436", + "UPHENO:0052178", + "UPHENO:0005642", + 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"UPHENO:0026183", + "UPHENO:0084771", + "UBERON:0000467", + "UBERON:0004765", + "UBERON:0004053", + "UPHENO:0086005", "HP:0009121", - "UPHENO:0002910", + "HP:0011100", + "UPHENO:0079876", + "UBERON:0001007", + "UBERON:0000479", + "UPHENO:0076692", + "UPHENO:0002536", + "UPHENO:0083648", + "HP:0011017", "NCBITaxon:33208", - "NCBITaxon:131567", - "UBERON:0002100", - "HP:0006496", - "HP:0012372", - "HP:0005927", - "UBERON:0015001", - "UPHENO:0050021", - "UPHENO:0002964", - "UBERON:0002544", - "GO:0006259", - "OBI:0100026", - "UBERON:0000464", - "UPHENO:0076724", - "UBERON:0000481", - "UBERON:0012475", - "GO:0016043", - "GO:0009890", - "HP:0025031", + "UBERON:0002470", + "UPHENO:0088166", + "UPHENO:0002813", + "UBERON:0010363", + "UBERON:0010758", + "UBERON:0002193", + "UPHENO:0056237", + "UBERON:0000117", + "UBERON:0004247", + "UPHENO:0002725", + "UBERON:0015007", + "UPHENO:0088038", + "UBERON:0010707", + "UPHENO:0022529", + "HP:0009601", + "HP:0007364", + "UPHENO:0080079", + "HP:0011844", + "UBERON:0000974", + "UBERON:0015228", + "UPHENO:0002830", + "UBERON:0004288", + "UPHENO:0087006", + "HP:0000238", + "UPHENO:0085144", + "UBERON:0013768", + "HP:0003319", + "UPHENO:0046505", + "UBERON:0005985", + "UPHENO:0075195", + "HP:0004329", + "UPHENO:0087186", + "UPHENO:0081435", + "UBERON:5006048", + "UBERON:0003133", + "BFO:0000003", + "UBERON:5002389", + "HP:0001915", + "PR:000050567", + "UBERON:0002075", + "UPHENO:0004523", + "HP:0009115", + "UBERON:0000060", + "UBERON:0001005", + "UPHENO:0081352", + "HP:0040068", + "UPHENO:0002708", + "UBERON:0003513", + "UBERON:0012141", + "UBERON:0007811", + "HP:0012252", + "HP:0002977", + "GO:0060464", + "UBERON:0004086", + "UBERON:0000153", "UPHENO:0086589", - "UPHENO:0015280", + "HP:0000470", + "UPHENO:0075175", + "UPHENO:0002896", + "UPHENO:0009382", + "UPHENO:0088047", + "UPHENO:0076782", + "UPHENO:0080300", + "UBERON:0007272", + "UPHENO:0075150", "UBERON:0002428", - "UBERON:0010703", - "UPHENO:0087518", - 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+ "UBERON:0002473", + "HP:0012795", + "UPHENO:0081598", + "GO:0048856", + "CL:0000738", + "UBERON:0000160", + "UPHENO:0088185", + "UPHENO:0076779", + "UPHENO:0020950", + "UPHENO:0085344", + "UBERON:0002544", + "UBERON:0007779", + "GO:0021782", + "UPHENO:0087433", + "UBERON:0005358", + "HP:0002818", "HP:0002813", - "UBERON:0001893", - "UPHENO:0076791", - "UBERON:0004111", - "GO:0050890", - "HP:0000271", - "NCBITaxon:6072", - "HP:0012145", - "GO:0031052", - "UBERON:0013702", - "HP:0040072", - "UBERON:0002204", - "UPHENO:0075195", - "UBERON:0004086", - "UPHENO:0002764", - "HP:0000240", - "HP:0001172", - "GO:0005623", - "UPHENO:0004523", + "HP:0002921", + "UPHENO:0005597", + "UBERON:0005282", + "UPHENO:0069391", + "UBERON:0001017", + "UBERON:0005281", + "HP:0002011", + "UBERON:0000047", + "UPHENO:0009399", "HP:0025461", - "UPHENO:0002536", - "UPHENO:0063599", - "UBERON:0001434", + "UBERON:0000475", + "UPHENO:0076702", + "HP:0012759", + "HP:0002118", + "HP:0006503", + "UBERON:0002104", + "UBERON:0006314", + "UBERON:0002105", + "UPHENO:0082129", + "HP:0001511", + "UBERON:0002417", + "CL:0002242", + "UPHENO:0005986", + "UBERON:0000122", + "GO:0048646", + "UPHENO:0087907", + "UPHENO:0086045", + "HP:0011875", + "HP:0000234", + "UBERON:0000481", + "UPHENO:0086932", + "UPHENO:0086699", + "UPHENO:0076730", + "UPHENO:0041226", + "HP:0000598", + "HP:0001629", + "UBERON:0034923", "UBERON:0000020", - "UPHENO:0076799", + "UPHENO:0049367", + "HP:0000369", + "GO:0009653", + "UBERON:0002616", + "UPHENO:0002964", + "UPHENO:0026181", "HP:0012443", - "HP:0012639", + "UBERON:0001032", + "HP:4000059", + "HP:0002101", + "GO:0035295", + "UBERON:0004151", + "UPHENO:0087548", + "UBERON:0000061", + "UPHENO:0056333", + "UPHENO:0025211", "HP:0000924", - "UPHENO:0075902", - "HP:0000001", - "UPHENO:0080200", - "UPHENO:0063844", - "HP:0000152", - "UBERON:0001890", - "UPHENO:0026181", - "BFO:0000003", - "UBERON:0002616", - "UBERON:0004288", - "UPHENO:0026183", - "UPHENO:0081451", - "UPHENO:0020888", - "UPHENO:0035147", + "UBERON:0004121", + "GO:0007275", + "UPHENO:0004459", + "UPHENO:0003116", + "HP:0010438", + "GO:0048513", + "UPHENO:0086049", + "GO:0060462", + "UPHENO:0087018", + "UPHENO:0078603", + "UPHENO:0019970", + "GO:0060541", + "UPHENO:0087846", + "UBERON:0001555", + "UPHENO:0088020", + "GO:0030323", + "UPHENO:0063722", + "UBERON:0000171", + "UBERON:0004451", + "UPHENO:0076805", + "UBERON:0000170", + "UBERON:0001004", + "HP:0000315", + "UPHENO:0085189", + "UBERON:0010712", + "HP:0000080", + "UBERON:0003466", + "UBERON:0000949", + "UPHENO:0003055", + "UBERON:0005156", + "UPHENO:0066927", + "UPHENO:0080126", + "UBERON:0015204", "UBERON:0005944", - "UPHENO:0086644", - "UBERON:0011138", - "UPHENO:0002905", - "CL:0000000", - "UPHENO:0085195", - "UBERON:0011137", - "UBERON:0002097", - "UPHENO:0002830", - "HP:0007364", - "UBERON:0005282", - "UBERON:0000075", + "UPHENO:0003020", + "UBERON:0000991", + "UPHENO:0066972", + "HP:0000818", + "UBERON:0000990", + "HP:0009380", + "UPHENO:0074228", + "UPHENO:0002595", + "UBERON:0004122", + "HP:0003241", + "HP:0010935", + "HP:0008373", + "HP:0011004", + "HP:0002242", + "UPHENO:0081091", + "UBERON:0003834", + "HP:0001876", "HP:0000118", - "UBERON:0000475", - "UPHENO:0001001", - "UBERON:0001423", - "UBERON:0002513", + "UPHENO:0024906", + "UPHENO:0018426", + "HP:0000078", + "HP:0002589", + "UPHENO:0076783", + "UBERON:0002090", + "HP:0002247", + "HP:0008058", + "UPHENO:0063639", + "UBERON:0011143", + "UPHENO:0081594", + "UBERON:0002114", + "UBERON:0008962", + "UBERON:0001463", + "HP:0012210", + "HP:0010461", + "UPHENO:0086621", + "UPHENO:0085070", + "HP:0002244", + "HP:0001510", + "HP:0001507", + "UPHENO:0049874", + "UPHENO:0006910", + "UPHENO:0021037", + "UBERON:5001463", + "UPHENO:0021474", + "UPHENO:0021656", + "UBERON:0000063", + "HP:0008057", "UPHENO:0076803", - "NCBITaxon:33154", - "UBERON:0011216", - "BFO:0000015", - "UPHENO:0080079", - "UBERON:0001017", - "HP:0003221", - "BFO:0000004", - "UBERON:0001895", + "HP:0000587", + "UPHENO:0081790", + "HP:0000479", + "HP:0002715", + "UPHENO:0002910", + "HP:0000478", "UBERON:0000073", - "HP:0009380", - "UBERON:0000465", - "UPHENO:0020584", - "UBERON:0000061", - "UBERON:0001460", - "UBERON:0010314", - "UBERON:0000062", - "UPHENO:0021474", - "UBERON:0003460", - "HP:0100543", - "GO:0071824", - "UPHENO:0002642", - "HP:0011446", - "BFO:0000002", - "UBERON:0006048", - "HP:0040068", - "UPHENO:0087907", - "UBERON:0005451", - "GO:0032501", - "UPHENO:0086932", - "HP:0000234", - "HP:0100547", - "HP:0004378", - "HP:0011842", - "GO:0050877", - "UPHENO:0082875", - "HP:0100887", - "UBERON:0005177", - "UBERON:0002529", - "UBERON:0004765", - "HP:0100542", - "UBERON:0007272", - "BFO:0000001", - "UBERON:0019221", - "UPHENO:0087472", - "BFO:0000020", - "UPHENO:0081566", - "UBERON:0000047", - "HP:0000929", - "UPHENO:0088047", - "UBERON:0001062", - "HP:0009804", - "UBERON:0004375", + "GO:0050890", + "UPHENO:0087614", + "NCBITaxon:1", + "HP:0008056", + "HP:0007766", + "UPHENO:0087596", + "UBERON:0019294", + "UPHENO:0076791", + "GO:0030324", + "UPHENO:0075183", + "UBERON:0001783", + "UPHENO:0085984", + "UBERON:0002336", "HP:0025033", - "HP:0000707", - "UPHENO:0002880", - "UBERON:0000467", + "UBERON:0000966", + "UPHENO:0087355", + "UPHENO:0088186", + "UBERON:0005162", + "UPHENO:0075949", + "UBERON:0000941", + "UPHENO:0003058", + "UBERON:0000025", + "UBERON:0004088", + "HP:0025015", + "UBERON:0000970", + "NCBITaxon:33154", + "HP:0011400", "HP:0002060", - "UPHENO:0076723", - "UPHENO:0002839", - "UBERON:0009569", - "UBERON:0002101", - "HP:0005528", - "BFO:0000040", - "UPHENO:0001005", + "HP:0012372", + "UPHENO:0087472", + "HP:0011039", + "UPHENO:0069298", + "UPHENO:0085195", + "UPHENO:0063629", + "UBERON:0034713", + "OBI:0100026", + "UPHENO:0001072", + "HP:0001713", + "UBERON:0001043", + "UBERON:0002048", + "UBERON:0010913", + "UPHENO:0081786", + "UPHENO:0021803", + "UPHENO:0076776", + "NCBITaxon:6072", + "HP:0001098", + "UBERON:0005388", + "HP:0000271", + "UPHENO:0001440", + "UPHENO:0026980", + "UPHENO:0008593", + "UPHENO:0081320", + "UBERON:0001008", + "UPHENO:0015280", + "UPHENO:0075902", + "UBERON:0001981", + "UPHENO:0082875", + "HP:0000104", + "UBERON:0000055", + "UBERON:0000489", + "UPHENO:0002934", + "UPHENO:0002803", + "UBERON:0005172", + "UPHENO:0083952", + "UBERON:8450002", + "UBERON:0000916", + "UBERON:0005173", + "GO:0030154", + "UBERON:0002113", + "UPHENO:0085118", + "UBERON:0015410", + "UBERON:0001690", + "UPHENO:0086173", + "UBERON:0001637", + "UBERON:0002037", + "UPHENO:0077426", + "CL:0000457", + "UBERON:0004537", + "UBERON:0000064", + "CL:0000081", + "UBERON:0003951", "CL:0000763", - "HP:0000163", - "HP:0002817", - "UBERON:0001137", - "UBERON:0034925", - "UBERON:0007811", - "HP:0012638", - "UBERON:0010000", - "HP:0003220", - "UBERON:0000026", - "UPHENO:0001002", - "HP:0001249", + "UPHENO:0085371", + "UBERON:0000079", + "UBERON:0005970", + "HP:0001871", + "UPHENO:0084761", + "HP:0001872", + "UBERON:0004375", + "HP:0011873", + "CL:0000232", + "UPHENO:0081095", + "UBERON:0010314", + "HP:0001873", + "UBERON:0001018", + "CL:0000458", + "HP:0020047", + "UPHENO:0081466", + "UPHENO:0002903", + "UPHENO:0081783", + "CL:0002092", + "HP:0025354", + "UBERON:0003037", + "CL:0000151", + "UBERON:0002413", + "CL:0000988", + "UPHENO:0086854", + "UBERON:0002100", + "UPHENO:0076675", + "UPHENO:0063565", + "UPHENO:0026028", + "UPHENO:0084928", + "UPHENO:0085302", + "UPHENO:0087339", + "HP:0010987", + "HP:0005561", + "HP:0011893", ], "has_phenotype_closure_label": [ - "integument", - "integumental system", - "abnormal integument", - "abnormal skin of body morphology", - "Localized skin lesion", - "abnormal anus morphology", - "anatomical entity atresia", - "anus", - "Abnormality of the anus", - "Abnormal anus morphology", - "Abnormality of the vertebral column", - "abnormal vertebral column", - "vertebral column", - "Abnormal curvature of the vertebral column", - "Scoliosis", - "dorsal region element", - "Abnormal spinal cord morphology", - "Tethered cord", - "dorsum", - "spinal cord", - "Delayed gross motor development", - "abnormal spinal cord morphology", - "abnormal metabolic process", - "biological regulation", - "metabolic process", + "decreased developmental process", + "decreased qualitatively developmental process", + "abnormal embryo development", + "changed biological_process rate", + "Intrauterine growth retardation", + "changed embryo development rate", + "Delayed CNS myelination", + "abnormal biological_process in nervous system", + "gliogenesis", + "oligodendrocyte differentiation", + "oligodendrocyte development", + "neurogenesis", + "glial cell differentiation", + "ensheathment of neurons", + "cellular developmental process", + "abnormal myelination in independent continuant", + "abnormal central nervous system myelination in independent continuant", + "delayed central nervous system myelination", + "Delayed myelination", + "Abnormal CNS myelination", + "axon ensheathment", + "abnormal axon ensheathment in central nervous system in independent continuant", + "Abnormality of prenatal development or birth", + "decreased embryo development", + "abnormal umbilical blood vessel morphology", + "entire extraembryonic component", + "Abnormality of the umbilical cord", + "Abnormal fetal cardiovascular morphology", + "extraembryonic structure", + "abnormal late embryo", + "Fetal anomaly", + "Abnormal cardiac ventricle morphology", + "interventricular septum", + "abnormal interventricular septum morphology", + "abnormal incomplete closing of the interventricular septum", + "abnormal cardiac ventricle morphology in the independent continuant", + "conceptus", + "abnormal biological_process in central nervous system", + "primary circulatory organ", + "abnormal anatomical entity morphology in the heart", + "heart vasculature", + "thoracic segment blood vessel", + "artery", + "Congenital malformation of the great arteries", + "circulatory organ", + "trunk blood vessel", + "abnormal artery morphology in the independent continuant", + "coronary vessel", + "abnormal incomplete closing of the ductus arteriosus", + "abnormal systemic artery morphology", + "systemic artery", + "vasculature of organ", + "heart plus pericardium", + "vasculature of trunk", + "Aplasia/Hypoplasia of the radius", + "abnormal forelimb zeugopod bone", + "absent radius bone in the forelimb", + "Abnormalities of placenta or umbilical cord", + "forelimb long bone", + "aplastic forelimb zeugopod bone", + "Abnormal morphology of the radius", + "umbilical blood vessel", + "abnormal heart morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "embryo development", + "abnormal cardiac ventricle morphology in the heart", + "abnormal radius bone morphology", + "Aplasia involving forearm bones", + "Aplasia involving bones of the extremities", + "limb long bone", + "radius endochondral element", + "abnormal forelimb zeugopod morphology", + "delayed biological_process in central nervous system", + "Abnormal forearm bone morphology", + "abnormal bone of pectoral complex morphology", + "absent radius bone", + "absent forelimb zeugopod bone", + "Aplasia involving bones of the upper limbs", + "forelimb zeugopod skeleton", + "Abnormal vertebral morphology", + "Abnormal helix morphology", + "folded anatomical entity in independent continuant", + "folded anatomical entity", + "Abnormally folded helix", + "pinna", + "abnormal helix of outer ear morphology", + "surface feature shape anatomical entity", + "abnormal penis morphology", + "abnormal male reproductive system morphology", + "Abnormality of male external genitalia", + "External genital hypoplasia", + "Abnormal penis morphology", + "external male genitalia", + "intromittent organ", + "Abnormal external genitalia", + "decreased size of the penis", + "abnormal male reproductive system", + "abnormal vertebral column morphology", + "abnormal external male genitalia morphology", + "abnormal penis", + "male reproductive system", + "abnormal reproductive system morphology", + "decreased size of the external male genitalia", + "abnormal cerebral hemisphere morphology", + "white matter of telencephalon", + "abnormal cerebral hemisphere white matter morphology", + "white matter", + "telencephalon", + "abnormal size of corpus callosum", + "abnormal forebrain morphology", + "folded helix of outer ear", + "forebrain", + "white matter of forebrain", + "brain commissure", + "corpus callosum hypoplasia", + "decreased size of the corpus callosum", + "cerebral subcortex", + "Abnormal cerebral subcortex morphology", + "aplasia or hypoplasia of telencephalon", + "Hypoplasia of the corpus callosum", + "Abnormal ventricular septum morphology", + "Abnormal cerebral white matter morphology", + "Abnormal cerebral morphology", "cellular process", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "Chromosomal breakage induced by crosslinking agents", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "regulation of cellular process", - "regulation of metabolic process", - "negative regulation of biological process", - "nucleobase-containing compound metabolic process", - "organic cyclic compound metabolic process", - "obsolete heterocycle metabolic process", - "obsolete cellular nitrogen compound metabolic process", - "cellular component organization", - "regulation of biosynthetic process", - "regulation of cellular metabolic process", - "negative regulation of cellular process", - "organelle organization", - "protein-containing complex organization", - "abnormal cellular process", - "regulation of gene expression", - "negative regulation of macromolecule biosynthetic process", - "programmed DNA elimination", - "obsolete cell", - "regulation of cellular biosynthetic process", - "negative regulation of biosynthetic process", - "negative regulation of macromolecule metabolic process", - "negative regulation of cellular metabolic process", - "DNA metabolic process", - "myeloid cell", - "oxygen accumulating cell", - "blood cell", - "erythroid lineage cell", - "Anemia", - "abnormal erythroid lineage cell morphology", - "abnormal myeloid cell morphology", - "nucleic acid metabolic process", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "Abnormal metencephalon morphology", - "abnormally formed cerebellum", - "Abnormal hindbrain morphology", - "hindbrain", - "organic substance metabolic process", + "cerebral hemisphere white matter", + "intercerebral commissure", + "nervous system commissure", + "Cerebral white matter hypoplasia", + "nervous system development", + "Thin corpus callosum", + "corpus callosum", + "abnormal cerebellum morphology", + "segmental subdivision of nervous system", + "external genitalia", "cerebellum", "metencephalon", - "Chiari type I malformation", + "delayed myelination", + "abnormal hindbrain morphology", + "Abnormal metencephalon morphology", + "cerebellum hypoplasia", + "regional part of nervous system", + "forelimb zeugopod", + "Aplasia/Hypoplasia of the cerebellum", + "Cerebellar hypoplasia", + "Abnormality of metabolism/homeostasis", + "absent anatomical entity in the skeletal system", + "Abnormal cellular physiology", + "metabolic process", + "abnormal vertebra morphology", + "Esophageal atresia", + "esophagus atresia", + "Abnormal blood vessel morphology", + "Abnormality of the vasculature", + "Abnormality of cardiovascular system morphology", + "aortic system", + "cardiovascular system", + "Coarctation of aorta", + "blood vasculature", + "arterial system", + "outflow tract", + "blood vessel", + "abnormal great vessel of heart morphology", + "Abnormal morphology of the great vessels", + "Abnormality of the cardiovascular system", + "aorta", + "Bilateral radial aplasia", + "abnormal metencephalon morphology", + "abnormal cardiovascular system morphology", + "abnormal aorta morphology", + "thoracic cavity blood vessel", + "helix of outer ear", + "arterial blood vessel", + "Abnormal aortic morphology", + "Abnormal reproductive system morphology", + "abnormal cardiovascular system", + "Aplastic anemia", + "Abnormal immune system morphology", + "Abnormal cellular immune system morphology", + "erythroid lineage cell", + "tissue", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "abnormal myelination", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "Abnormality of mental function", + "abnormality of nervous system physiology", + "forelimb zeugopod bone", + "nervous system", + "renal system", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "biological_process", + "Abnormal optic nerve morphology", + "nervous system process", + "system process", + "subdivision of digestive tract", + "delayed biological_process", + "Single umbilical artery", + "developing anatomical structure", + "Abnormal location of ears", + "thoracic cavity element", + "Abnormal systemic arterial morphology", + "hematopoietic system", + "respiratory airway", + "nucleate cell", + "abnormal cerebral subcortex morphology", + "respiratory tube", + "abnormal nervous system", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "endoderm-derived structure", + "trunk region element", + "pectoral complex", + "proximo-distal subdivision of respiratory tract", + "anatomical structure morphogenesis", + "Abnormality of the digestive system", + "Abnormal esophagus morphology", + "Abnormality of the vertebral column", + "retina", + "thoracic segment of trunk", + "abnormal digit", + "Abnormality of the respiratory system", + "Abnormal tracheobronchial morphology", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "abnormal esophagus morphology", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "mesoderm-derived structure", + "abnormality of respiratory system physiology", + "Micropenis", + "Metazoa", + "Abnormal hand morphology", + "abnormal limb", + "manus", + "abnormal male reproductive organ morphology", + "occurrent", + "organ", + "appendicular skeleton", "Abnormal cerebellum morphology", - "abnormal cerebellum morphology", - "abnormally formed anatomical entity in independent continuant", - "segmental subdivision of hindbrain", - "Abnormality of the skin", - "abnormal metencephalon morphology", - "abnormal hindbrain morphology", - "visual system", - "chromatin organization", - "sensory system", + "upper limb segment", + "limb skeleton subdivision", + "cell differentiation", + "appendicular skeletal system", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", + "axon ensheathment in central nervous system", + "compound organ", "eye", - "orbital region", - "Neurodevelopmental delay", - "decreased size of the anatomical entity in the independent continuant", - "entire sense organ system", - "Abnormal cellular phenotype", - "Abnormality of the orbital region", - "abnormal eyeball of camera-type eye", - "eyeball of camera-type eye", - "camera-type eye", - "appendage girdle complex", - "decreased size of the eyeball of camera-type eye", - "anatomical conduit", - "Abnormality of globe size", - "forelimb endochondral element", - "abnormal forelimb zeugopod morphology", - "abnormal radius bone morphology", - "abnormal bone of pectoral complex morphology", - "dysgenesis of the radius bone", - "limb long bone", - "bone of free limb or fin", - "Abnormal morphology of the radius", - "arm bone", + "absent anatomical entity in the renal system", + "cell", + "absent anatomical entity in the independent continuant", + "Aplasia/Hypoplasia of the thumb", + "abnormal size of brain ventricle", + "bone cell", + "arm", + "head", + "abnormal manus morphology", + "manual digit", + "Abnormal eye morphology", + "Abnormal appendicular skeleton morphology", + "abnormal number of anatomical enitites of type leukocyte", + "Abnormal retinal morphology", + "Finger aplasia", + "absent kidney in the renal system", + "bone of appendage girdle complex", + "anatomical wall", + "genitourinary system", + "digestive tract", + "vessel", + "lateral structure", + "abnormal limb bone morphology", + "abnormal shape of external ear", + "Aplasia/hypoplasia involving bones of the hand", + "decreased size of the optic disc", + "Abnormal vascular morphology", + "abnormal arm", + "Abnormality of digestive system morphology", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormal forebrain morphology", + "forelimb", + "abnormal digestive system", + "Abnormality of the cervical spine", + "Abnormal skeletal morphology", + "umbilical cord", + "autopodial skeleton", + "aplasia or hypoplasia of skeleton", + "cardiac ventricle", + "abnormal craniocervical region", + "Abnormal ear morphology", + "abnormal autopod region morphology", + "Absent thumb", + "Low-set ears", + "abnormal ear", + "penis hypoplasia", + "limb endochondral element", + "paired limb/fin skeleton", + "postcranial axial skeletal system", + "lung lobe formation", + "Neurodevelopmental abnormality", + "subdivision of organism along appendicular axis", + "multicellular organism development", + "reproductive system", + "aplastic manual digit 1", + "abnormal cervical vertebra", + "Abnormal fetal morphology", + "commissure of telencephalon", + "abnormal intestine morphology", + "independent continuant", + "abnormal leukocyte morphology", "radius bone", - "Radial dysplasia", + "Abnormality of the hand", + "embryonic cardiovascular system", + "organism subdivision", + "segmental subdivision of hindbrain", + "digit 1 or 5", + "Abnormal myeloid cell morphology", + "Aplasia/hypoplasia involving the skeleton", + "optic disc hypoplasia", + "decreased qualitatively biological_process", + "anatomical entity", "long bone", - "abnormally decreased number of anatomical entity", - "Abnormal forearm morphology", - "abnormal forebrain morphology", - "hematopoietic system", - "abnormally localised anatomical entity", - "non-connected functional system", - "system process", - "Neoplasm", - "abnormal bone marrow cell", - "abnormal nitrogen compound metabolic process", - "abnormal immune system", - "hemolymphoid system", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", - "abnormal bone marrow cell morphology", - "phenotype", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormality of bone marrow cell morphology", - "disconnected anatomical group", - "tissue", - "Abnormality of the immune system", - "phenotype by ontology source", - "cell", - "limb bone", - "abnormal cell morphology", - "macromolecule metabolic process", - "bone of pectoral complex", - "abnormal upper urinary tract", - "renal system", - "cavitated compound organ", - "anus atresia", - "abdomen", - "excretory system", - "Abnormality of the genitourinary system", + "material entity", + "abnormal respiratory system morphology", + "vertebral element", + "viscus", + "vertebral column", + "Abnormal cardiac septum morphology", + "subdivision of skeleton", + "endochondral bone", + "cervical vertebra", "Abnormality of limbs", - "Abnormal renal morphology", - "Growth abnormality", - "abnormal renal system morphology", - "subdivision of trunk", - "abdomen element", - "pectoral complex", - "trunk region element", - "Abnormal nervous system morphology", - "forelimb zeugopod", - "Abnormal conus terminalis morphology", + "Abnormality of limb bone morphology", + "Hypoplasia of penis", + "animal organ development", + "abnormal anatomical entity morphology", "Abnormality of head or neck", - "Abnormal eye morphology", + "skeletal element", + "thoracic segment organ", + "anatomical collection", + "decreased size of the anatomical entity in the independent continuant", + "Aplasia/Hypoplasia of the optic nerve", + "abnormal cellular process", + "secretory cell", + "bone element", + "abnormal platelet", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal immune system morphology", + "Cognitive impairment", + "abnormal central nervous system myelination", + "organ subunit", + "obsolete cell", + "digestive system", + "abnormal optic disc morphology", + "paired limb/fin", + "Morphological abnormality of the gastrointestinal tract", + "appendage", + "root", + "Aplasia/Hypoplasia of fingers", + "delayed biological_process in independent continuant", + "digitopodium region", + "abnormal anatomical entity", + "Phenotypic abnormality", + "abnormal anatomical entity morphology in the retina", + "bone of pectoral complex", + "decreased length of anatomical entity", + "zeugopodial skeleton", + "abnormal cerebrospinal fluid morphology", + "entity", + "abnormal anatomical entity morphology in the manus", + "skeleton", + "abnormal limb morphology", + "anatomical conduit", + "heart", + "Abnormality of the head", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "absent anatomical entity in the forelimb", + "multicellular anatomical structure", + "Abnormality of the gastrointestinal tract", + "absent digit", + "glial cell development", + "Abnormal hindbrain morphology", + "phenotype", + "Abnormal cell morphology", + "musculoskeletal system", + "Abnormality of the eye", + "axon tract", + "abnormal upper urinary tract", + "Abnormality of the neck", + "manual digit 1", + "autopodial extension", + "abnormal face", + "abnormal alimentary part of gastrointestinal system", + "organ system subdivision", + "embryo", + "abnormal blood cell", + "erythrocyte", + "abnormal vertebral column", + "Aplasia/hypoplasia of the extremities", + "forelimb skeleton", + "endocrine system", + "abnormally decreased functionality of the anatomical entity", + "skeletal system", + "abnormal cardiac ventricle morphology", + "motile cell", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "limb segment", + "subdivision of vertebral column", + "absent manual digit", + "decreased size of the cerebellum", + "abnormal phenotype by ontology source", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "abnormal craniocervical region morphology", + "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", + "continuant", + "absent radius bone in the independent continuant", + "systemic arterial system", + "neck bone", + "entire sense organ system", + "absent anatomical entity in the limb", + "abnormal blood vessel morphology", + "lung", + "abnormal biological_process in independent continuant", + "decreased size of the anatomical entity", + "cognition", + "neck", + "abnormal manual digit morphology in the independent continuant", + "shape anatomical entity in independent continuant", + "skeleton of pectoral complex", + "decreased length of anatomical entity in independent continuant", + "Renal hypoplasia/aplasia", + "trunk or cervical vertebra", + "Fetal ultrasound soft marker", + "abnormal neck", + "abnormal brain ventricle morphology", + "endochondral element", + "craniocervical region", + "abnormal trachea morphology", + "male organism", + "abnormal appendicular skeleton morphology", + "anterior region of body", + "aplastic anatomical entity", + "Absent forearm bone", + "abnormal manual digit 1 morphology", + "Abnormal tracheal morphology", + "abnormal respiratory tube morphology", + "dorsum", + "abnormal coronary vessel morphology", + "tracheobronchial tree", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "protein-containing material entity", + "abnormal skeletal system morphology", + "segment of manus", + "main body axis", "abnormal kidney morphology", - "aplastic secondary dentition", - "Abnormality of skin morphology", - "brain ventricle/choroid plexus", - "abnormal number of anatomical enitites of type secondary dentition", - "bone marrow", - "tooth-like structure", - "digestive system", - "subdivision of head", - "abnormal location of anatomical entity", - "oral cavity", - "anatomical space", - "abnormal digestive system", - "subdivision of digestive tract", + "decreased length of neck", + "cervical vertebra endochondral element", + "postcranial axial skeleton", + "abnormal external ear morphology", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "Abnormality of the musculoskeletal system", + "abnormally decreased number of myeloid cell", + "bone of dorsum", + "abnormal neck morphology", + "abnormal artery morphology", + "Abnormal forearm morphology", + "vertebra", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "reproductive organ", + "cell development", + "skeleton of manus", + "shape helix of outer ear", "abnormal digestive system morphology", - "digestive tract", - "Abnormality of digestive system morphology", - "abnormal oral cavity morphology", - "abnormal mouth", - "simple eye", - "abnormally decreased number of anatomical entity in the independent continuant", + "abnormal forelimb morphology", "quality", - "forelimb zeugopod bone", - "Agenesis of permanent teeth", - "Abnormality of the digestive system", - "mouth", - "tube", - "autopodial extension", - "Abnormal oral morphology", - "abnormal mouth morphology", - "abnormal size of eyeball of camera-type eye", - "aplastic anatomical entity", - "abnormal face", - "Abnormality of the upper urinary tract", - "abnormal dentition", - "growth", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "abnormal growth", - "Pelvic kidney", - "Abnormal localization of kidney", - "Abnormal erythroid lineage cell morphology", - "transudate", - "skeletal system", - "upper urinary tract", - "abnormally increased number of brain ventricle in the independent continuant", - "trunk", + "abnormal tracheobronchial tree morphology", + "Abnormal finger morphology", + "Abnormal neck morphology", + "anatomical system", + "upper digestive tract", + "abnormal digit morphology", + "abnormal skeletal system", "digit 1 plus metapodial segment", - "anatomical wall", - "abnormal anatomical entity morphology in the pectoral complex", - "bodily fluid", + "material anatomical entity", + "skeleton of limb", + "digit plus metapodial segment", + "subdivision of tube", + "aplasia or hypoplasia of manual digit 1", + "system", + "circulatory system", + "bone marrow cell", + "tube", + "brain white matter", + "abnormal developmental process", + "penis", + "digestive system element", + "abnormal size of anatomical entity", + "Abnormality of thrombocytes", + "Abnormal axial skeleton morphology", + "Aplasia/Hypoplasia of the cerebrum", "autopod region", - "compound organ", - "abnormal brain ventricle morphology", + "Abnormal corpus callosum morphology", + "irregular bone", + "organism", + "abnormal limb bone", + "Abnormal nervous system morphology", + "sense organ", + "limb", + "increased size of the anatomical entity", + "abnormal number of anatomical enitites of type anatomical entity", + "limb bone", + "multicellular organismal process", + "organ part", + "absent anatomical entity in the multicellular organism", + "abnormal ductus arteriosus morphology", + "manual digit plus metapodial segment", + "Intellectual disability", + "bone marrow", + "subdivision of organism along main body axis", + "small intestine", + "agenesis of anatomical entity", + "abnormal manual digit morphology in the manus", + "Abnormal digit morphology", + "phenotype by ontology source", + "abnormal development of anatomical entity", + "subdivision of trunk", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "absent anatomical entity", + "abnormal opening of the anatomical entity", + "ductus arteriosus", + "dorsal region element", + "body proper", + "respiratory system", + "pectoral appendage", + "abnormal hematopoietic system morphology", + "system development", + "digit", + "multi-limb segment region", + "acropodium region", + "tube development", + "abnormal manus", + "abnormally increased number of brain ventricle in the independent continuant", "cerebrospinal fluid", - "Abnormal cerebrospinal fluid morphology", - "zeugopodial skeleton", - "ventricle of nervous system", - "brain ventricle", - "Aplasia/Hypoplasia involving the central nervous system", - "organism substance", - "specifically dependent continuant", + "All", + "posterior segment of eyeball", + "ectoderm-derived structure", "Hydrocephalus", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Abnormal forearm bone morphology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "calcareous tooth", - "ventricular system of central nervous system", - "abnormal forelimb zeugopod bone", - "kidney", - "negative regulation of gene expression", - "ventricular system of brain", - "Abnormal cerebral ventricle morphology", + "Abnormal leukocyte count", + "cavitated compound organ", + "aplasia or hypoplasia of cerebellum", "abnormally increased number of anatomical entity in the independent continuant", + "surface feature shape anatomical entity in independent continuant", + "Abnormal optic disc morphology", + "abnormal brain white matter morphology", + "Abnormality of the outer ear", + "abnormal cardiac septum morphology", + "organism substance", + "Abnormality of limb bone", + "central nervous system", + "ventricular system of central nervous system", + "abnormally increased number of anatomical entity", + "Morphological central nervous system abnormality", + "organ component layer", + "Abnormality of the urinary system", + "Absent radius", + "Abnormal cerebrospinal fluid morphology", + "myelination", + "vascular system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "Abnormality of brain morphology", + "Aplasia/Hypoplasia of the corpus callosum", + "appendage girdle complex", + "subdivision of head", + "transudate", + "abnormal central nervous system morphology", + "abnormal reproductive system", "abnormal kidney", + "abnormal nervous system morphology", + "abnormal umbilical cord", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", "abnormal brain ventricle/choroid plexus morphology", - "abnormal DNA metabolic process", - "abnormal chromatin organization", - "forelimb", - "Microphthalmia", - "malformed anatomical entity", - "autopodial skeleton", - "Motor delay", - "abnormal anatomical entity", - "paired limb/fin", - "abnormal limb long bone morphology", - "regulation of macromolecule metabolic process", - "continuant", - "aplastic manual digit 1", - "Abnormal appendicular skeleton morphology", - "delayed biological_process", - "abnormal anatomical entity morphology in the manus", - "abnormal hematopoietic system morphology", - "Abnormal number of teeth", - "Aplasia/hypoplasia involving the skeleton", - "pectoral appendage", - "mesoderm-derived structure", - "cellular component organization or biogenesis", - "Phenotypic abnormality", - "Abnormality of the face", - "abnormal digit morphology", - "orifice", - "abnormal orbital region", - "bone marrow cell", - "abnormal manus", - "abnormal anatomical entity morphology in the independent continuant", - "segment of manus", - "manual digit 1", - "multi-limb segment region", - "immune system", - "face", - "Microcephaly", - "abnormal craniocervical region", - "limb skeleton subdivision", - "manual digit plus metapodial segment", - "abnormal immune system morphology", - "radius endochondral element", - "Abnormal number of permanent teeth", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "abnormal cellular metabolic process", - "acropodium region", - "abnormally decreased number of calcareous tooth", - "Abnormality of the dentition", - "skeleton", - "Absent thumb", - "Abnormality of skull size", - "Abnormal digit morphology", - "aplasia or hypoplasia of manual digit", - "absent anatomical entity in the limb", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "Abnormality of the upper limb", + "ventricle of nervous system", + "increased size of the anatomical entity in independent continuant", + "vestibulo-auditory system", + "abnormal cranial nerve II morphology", + "hematopoietic cell", + "cellular organisms", + "Abnormal lung morphology", + "Decreased anatomical entity position", + "abnormal ear morphology", + "Pancytopenia", + "abnormal head", + "late embryo", + "Gastrointestinal atresia", + "abnormal location of anatomical entity", + "lower respiratory tract", + "abnormal bone marrow morphology", + "non-connected functional system", + "abnormal location of ear", + "ear", + "anatomical entity hypoplasia in face", + "abnormal head morphology", + "sensory system", + "gonad", + "abnormal growth", + "abnormal ocular fundus morphology", + "Decreased external ear position", + "platelet", + "abnormal location of external ear", + "Abnormality of the ear", + "Neoplasm", + "Tracheoesophageal fistula", + "Abnormal intestine morphology", + "orbital region", "abnormal telencephalon morphology", - "Bone marrow hypocellularity", - "Abnormality of the nervous system", - "abnormal cellular component organization", - "appendicular skeletal system", - "Eukaryota", - "forebrain", - "Abnormality of the integument", - "paired limb/fin segment", - "nervous system", - "skeleton of limb", - "Abnormal oral cavity morphology", - "regulation of biological process", - "Abnormal thumb morphology", - "Eumetazoa", + "external ear", + "abnormal anatomical entity topology in independent continuant", + "Patent ductus arteriosus", + "dorsal part of neck", + "Abnormal pinna morphology", + "abnormal external ear", + "abnormal bone marrow cell", + "trunk", + "abnormal shape of continuant", + "zeugopod", + "pair of lungs", "segment of autopod", - "abnormal appendicular skeleton morphology", + "respiration organ", + "lung lobe development", + "Abnormal respiratory system physiology", + "Abnormal lung development", + "Abnormal lung lobation", + "abnormal lung lobe formation", + "abnormal lung morphology", + "Hypoplastic male external genitalia", + "anatomical structure development", + "anatomical structure formation involved in morphogenesis", + "Hypergonadotropic hypogonadism", + "respiratory system development", + "Abnormality of the orbital region", + "Aplasia/hypoplasia involving forearm bones", + "lung development", + "tract of brain", + "abnormally decreased functionality of the gonad", + "respiratory tube development", + "lung morphogenesis", + "Aplasia/Hypoplasia affecting the fundus", + "Abnormal platelet count", "manual digit 1 or 5", - "abnormal anus", - "Abnormal cell morphology", - "organ component layer", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal forebrain morphology", - "manus", - "system", - "subdivision of organism along main body axis", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the hand", - "bone cell", - "digit 1", - "regional part of nervous system", - "abnormal head", - "abnormal autopod region morphology", - "digit", - "Abnormality of the skeletal system", - "abdominal segment of trunk", - "abnormal limb", - "Delayed ability to walk", + "developmental process", + "Abnormal myelination", + "Abnormal heart morphology", + "abnormality of reproductive system physiology", + "Abnormality of the genital system", "regional part of brain", - "Intellectual disability", - "digit 1 or 5", - "absent manual digit", - "Abnormal hand morphology", - "All", - "Abnormal axial skeleton morphology", - "appendicular skeleton", - "abnormal skin of body", - "segmental subdivision of nervous system", - "absent anatomical entity in the forelimb", - "Nevus", - "abnormal manual digit morphology in the independent continuant", - "Growth delay", - "forelimb skeleton", - "abnormal anatomical entity morphology in the appendage girdle complex", - "anatomical collection", - "Abnormality of multiple cell lineages in the bone marrow", - "skeleton of pectoral complex", - "manual digitopodium region", - "anterior region of body", - "absent anatomical entity in the multicellular organism", - "forelimb long bone", - "abnormal manus morphology", - "obsolete cellular aromatic compound metabolic process", - "immaterial entity", - "immaterial anatomical entity", - "endochondral element", - "endochondral bone", - "negative regulation of cellular biosynthetic process", - "Abnormal bone structure", - "Abnormality of the mouth", - "arm", - "limb", - "lateral structure", - "secondary dentition", - "abnormal number of anatomical enitites of type anatomical entity", - "digit plus metapodial segment", - "Neoplasm by anatomical site", - "Abnormality of limb bone", - "abnormal axial skeleton plus cranial skeleton morphology", + "Abnormal posterior eye segment morphology", + "Abnormality of reproductive system physiology", + "Abnormality of the endocrine system", + "hindbrain", + "animal organ morphogenesis", + "abnormal endocrine system", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "Puberty and gonadal disorders", + "ventricular system of brain", + "shape anatomical entity", + "anatomical entity hypoplasia in independent continuant", + "glandular system", + "reproductive structure", + "changed developmental process rate", + "abnormal brain commissure morphology", + "dorsal telencephalic commissure", + "abnormal vasculature", "abnormal genitourinary system", + "blood cell", + "Abnormality of the genitourinary system", + "Abnormal duodenum morphology", + "abnormal axon tract morphology", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", + "Duodenal atresia", + "vasculature", + "duodenum atresia", + "forelimb endochondral element", + "abnormal duodenum morphology", + "abnormal systemic arterial system morphology", + "Short neck", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal external genitalia", + "Abnormal renal morphology", + "respiratory tract", + "alimentary part of gastrointestinal system atresia", + "arm bone", + "Intestinal atresia", + "intestine", + "duodenum", + "intestine atresia", + "Abnormal small intestine morphology", + "aplasia or hypoplasia of corpus callosum", + "abnormal closing of the anatomical entity", + "abnormal small intestine", + "Abnormality of the male genitalia", + "manual digitopodium region", + "cervical region of vertebral column", + "Abnormal respiratory system morphology", + "Abnormality of blood and blood-forming tissues", + "upper urinary tract", + "delayed growth", "axial skeletal system", - "abnormality of nervous system physiology", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/hypoplasia involving bones of the extremities", - "agenesis of anatomical entity", - "Aplasia/Hypoplasia affecting the eye", - "biological_process", - "subdivision of skeleton", - "protein-containing material entity", - "bone of appendage girdle complex", - "manual digit", - "abnormal nervous system morphology", - "abnormal cell", - "bone element", - "nervous system process", - "body proper", - "abnormal programmed DNA elimination by chromosome breakage", - "Abnormality of brain morphology", - "subdivision of skeletal system", - "sense organ", - "abnormal postcranial axial skeleton morphology", - "telencephalon", - "manual digit 1 plus metapodial segment", - "protein-DNA complex organization", - "organ", - "programmed DNA elimination by chromosome breakage", - "abnormal bone marrow morphology", - "organism subdivision", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormality of limb bone morphology", - "zeugopod", + "Growth abnormality", + "cardiac chamber", + "aplasia or hypoplasia of manual digit", + "face", + "abnormal corpus callosum morphology", + "abnormal orbital region", + "Aplasia/Hypoplasia of the cerebral white matter", + "visual system", + "abnormal external male genitalia", "abnormal anatomical entity morphology in the brain", - "organ system subdivision", - "process", - "main body axis", - "cellular organisms", - "skin of body", - "Abnormal cellular physiology", - "abnormal biological_process", - "multi-tissue structure", - "abnormal forelimb morphology", - "aplasia or hypoplasia of telencephalon", - "abnormal brain morphology", - "abnormal limb bone", - "abnormality of anatomical entity physiology", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormally formed anatomical entity", - "abnormal central nervous system morphology", - "root", - "abnormal size of anatomical entity", - "skull", - "cognition", - "decreased size of the anatomical entity", - "negative regulation of metabolic process", + "multi cell part structure", + "central nervous system myelination", + "abnormal posterior segment of eyeball morphology", "abnormal camera-type eye morphology", - "abnormally localised anatomical entity in independent continuant", - "musculoskeletal system", - "delayed growth", - "abnormal cerebrospinal fluid morphology", - "organism", - "Abnormal skeletal morphology", - "limb endochondral element", - "anatomical entity", - "axial skeleton plus cranial skeleton", - "paired limb/fin skeleton", - "postcranial axial skeletal system", - "abnormal size of skull", - "Abnormality of the musculoskeletal system", - "dysgenesis of the anatomical entity", - "Neurodevelopmental abnormality", - "Abnormal skull morphology", - "Abnormality of the eye", - "abnormal skull morphology", - "erythrocyte", - "abnormal limb bone morphology", - "aplasia or hypoplasia of anatomical entity", - "cellular metabolic process", - "abnormally increased number of anatomical entity", - "abnormal anatomical entity topology in independent continuant", - "limb segment", - "abnormally localised kidney", - "Cerebellar malformation", - "postcranial axial skeleton", - "central nervous system", - "absent anatomical entity", - "Chromosome breakage", - "abnormal number of anatomical enitites of type calcareous tooth", - "Cognitive impairment", - "Metazoa", - "pectoral appendage skeleton", + "Ventricular septal defect", + "cerebral hemisphere", + "abnormal eyeball of camera-type eye", "Abnormality of the kidney", - "anatomical cavity", - "ectoderm-derived structure", - "Aplasia/Hypoplasia of fingers", - "subdivision of tube", - "Opisthokonta", - "Abnormal long bone morphology", - "structure with developmental contribution from neural crest", - "dentition", - "Abnormal myeloid cell morphology", - "abnormally decreased number of anatomical entity in the multicellular organism", - "Aplasia/hypoplasia of the extremities", - "occurrent", - "abnormal skeletal system morphology", - "anatomical system", - "abnormal anatomical entity morphology", - "abnormal skeletal system", - "abnormal organelle organization", - "head", - "abnormal head morphology", + "bodily fluid", + "multi-tissue structure", + "abnormal vascular system morphology", + "photoreceptor array", + "cranial neuron projection bundle", + "abnormal retina morphology", + "great vessel of heart", + "abnormal myeloid cell morphology", + "external male genitalia hypoplasia", + "brain ventricle/choroid plexus", + "aplasia or hypoplasia of cranial nerve II", + "camera-type eye", + "chorioretinal region", + "abnormal immune system", + "optic disc", + "central nervous system cell part cluster", + "abnormal cell morphology", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "ocular fundus", + "brain ventricle", + "eyeball of camera-type eye", + "cervical region", + "Optic disc hypoplasia", + "Eumetazoa", + "Abnormal umbilical cord blood vessel morphology", + "Eukaryota", + "neuron projection bundle", + "simple eye", + "trachea", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "cranial nerve II", + "central nervous system development", + "esophagus", + "hemolymphoid system", + "abnormal size of optic disc", + "Abnormality of the face", + "abnormal face morphology", "forelimb bone", - "subdivision of organism along appendicular axis", - "absent anatomical entity in the independent continuant", - "craniocervical region", - "brain", - "abnormal hematopoietic cell morphology", - "abnormal limb morphology", - "organ part", - "multicellular organism", - "abnormal arm", - "Anal atresia", - "Abnormal nervous system physiology", - "Finger aplasia", - "digitopodium region", - "Tooth agenesis", - "abnormal hematopoietic system", - "hematopoietic cell", - "Decreased head circumference", - "abnormal craniocervical region morphology", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the urinary system", - "Chiari malformation", - "anatomical structure", - "Morphological central nervous system abnormality", - "multicellular organismal process", - "abnormal long bone morphology", - "entity", - "Abnormality of the head", - "Abnormality of mental function", + "anatomical entity hypoplasia", + "increased size of the brain ventricle", + "septum", + "paired limb/fin segment", + "Ventriculomegaly", + "excretory system", + "absent kidney", + "Abnormality of the upper urinary tract", + "manual digit 1 plus metapodial segment", + "abdomen", + "lung lobe morphogenesis", + "abdominal segment of trunk", "abdominal segment element", - "absent digit", - "genitourinary system", - "material anatomical entity", - "appendage", - "aplasia or hypoplasia of skeleton", - "independent continuant", - "upper limb segment", - "cranial skeletal system", - "abnormal nervous system", - "Aplasia/hypoplasia involving bones of the hand", + "subdivision of skeletal system", + "absent kidney in the independent continuant", + "abdomen element", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", "abnormal renal system", - "Abnormal upper limb bone morphology", - "skeletal element", - "abnormal digit", - "abnormal closing of the anatomical entity", - "material entity", - "organ subunit", - "Abnormal cerebral morphology", - "Ectopic kidney", - "abnormal manual digit morphology in the manus", - "abnormal phenotype by ontology source", - ], - "has_phenotype_count": 18, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0014987", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group U", - "full_name": None, - "deprecated": None, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.", - "xref": ["DOID:0111085", "GARD:16215", "OMIM:617247", "UMLS:C4310651"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": [ - "FANCU", - "Fanconi Anemia, complementation group U", - "Fanconi Anemia, complementation group type U", - "Fanconi anaemia caused by mutation in XRCC2", - "Fanconi anaemia complementation group type U", - "Fanconi anemia caused by mutation in XRCC2", - "Fanconi anemia complementation group type U", - "Fanconi anemia, complementation GROUP U", - "XRCC2 Fanconi anaemia", - "XRCC2 Fanconi anemia", - ], - "uri": None, - "iri": None, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0040012", - "HP:0000086", - "HP:0010035", - "HP:0000252", - "HP:0002984", - "HP:0009777", - "HP:0001510", - "HP:0003974", - "HP:0001643", - "HP:0012799", - "HP:0011835", - ], - "has_phenotype_label": [ - "Chromosome breakage", - "Ectopic kidney", - "Aplasia of the 1st metacarpal", - "Microcephaly", - "Hypoplasia of the radius", - "Absent thumb", - "Growth delay", - "Absent radius", - "Patent ductus arteriosus", - "Unilateral facial palsy", - "Absent scaphoid", - ], - "has_phenotype_closure": [ - "HP:0001191", - "UPHENO:0076767", - "UPHENO:0002961", - "UBERON:0014395", - "UBERON:0013630", - "UPHENO:0026001", - "UPHENO:0081524", - "UBERON:0009878", - "UBERON:0006716", - "UBERON:0017750", - "UBERON:0015049", - "UBERON:0000982", - "UPHENO:0009338", - "UPHENO:0002973", - "UBERON:0004770", - "HP:0011835", - "HP:0006502", - "UBERON:0001427", - "UBERON:0034921", - "UBERON:0005162", - "UBERON:0001444", - "HP:0010827", - "HP:0000271", - "UPHENO:0082875", - "UBERON:0004461", - "UBERON:0034713", - "HP:0000301", - "UPHENO:0081709", - "UBERON:0001033", - "HP:0012799", - "UBERON:0001577", - "UBERON:0001015", - "UBERON:0000383", - "HP:0000759", - "HP:0009810", - "HP:0031910", - "UPHENO:0005116", - "HP:0011805", - "UBERON:0000122", - "HP:0012638", - "UPHENO:0076722", - "HP:0001291", - "UBERON:0013700", - "UBERON:0002376", - "UPHENO:0002908", - "HP:0006824", - "UPHENO:0002816", - "HP:0003011", - "UPHENO:0076772", - "UBERON:0001456", - "UBERON:0001021", - "UPHENO:0081700", - "UBERON:0011779", - "UBERON:0014892", - "HP:0010628", - "HP:0011799", - "UBERON:0011695", - "UPHENO:0033603", - "UBERON:0007100", - "UBERON:0005178", - "UBERON:0004537", - "UBERON:0004572", - "UPHENO:0087309", - "HP:0025015", - "UPHENO:0075655", - "UBERON:0015410", - "UBERON:0018674", - "UPHENO:0076776", - "UPHENO:0086797", - "UBERON:0003513", - "UBERON:0003509", - "UBERON:0000477", - "UPHENO:0033572", - "UPHENO:0080362", - "UBERON:0002201", - "UBERON:0003498", - "UBERON:0002049", - "UBERON:0004145", - "UBERON:0015228", - "UBERON:0002075", - "HP:0001643", - "UBERON:0005181", - "UBERON:0000915", - "UBERON:0007798", - "UBERON:0004716", - "UPHENO:0076810", - "UPHENO:0087334", - "HP:0030680", - "HP:0001626", - "UBERON:0004571", - "UPHENO:0015324", - "HP:0004231", - "UPHENO:0002678", - "HP:0003953", - "UPHENO:0025945", - "UPHENO:0081511", - "UPHENO:0026128", - "HP:0003974", - "UPHENO:0009399", - "HP:0001507", - "GO:0040007", - "HP:0001510", - "UPHENO:0081466", - "UPHENO:0031839", - "HP:0002818", - "UBERON:0001423", - "UPHENO:0081792", - "HP:0005773", - "UPHENO:0080187", - "HP:0011603", - "HP:0009821", - "UPHENO:0081204", - "UPHENO:0046540", - "UBERON:0003466", - "UBERON:0015001", - "UBERON:0002386", - "UBERON:0004905", - "UPHENO:0069294", - "UPHENO:0025593", - "UPHENO:0012541", - "UPHENO:0081091", - "UPHENO:0002751", - "UPHENO:0081313", - "HP:0003026", - "HP:0002973", - "HP:0006503", + "abnormal respiratory system", + "Renal agenesis", + "abnormal hematopoietic system", + "abnormal biological_process", + "Growth delay", + "kidney", + "abnormal dorsal telencephalic commissure morphology", + "alimentary part of gastrointestinal system", + "abnormal renal system morphology", + "Overfolded helix", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "cardiac septum", + "anucleate cell", + "abnormal number of anatomical enitites of type cell", + "Abnormal upper limb bone morphology", + "abnormally decreased number of anatomical entity", + "pectoral appendage skeleton", + "abnormal blood cell morphology", + "Abnormal cellular phenotype", + "myeloid cell", + "abnormal brain morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormally decreased number of cell", + "male reproductive organ", + "disconnected anatomical group", + "abnormal cell", + "abnormal hematopoietic cell morphology", + "digit 1", + "abnormal platelet morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "abnormally decreased number of platelet", + "multicellular organism", + "Thrombocytopenia", + "Abnormal nervous system physiology", + "Abnormality of the immune system", + "heart blood vessel", + "abnormal limb long bone morphology", + "abnormal small intestine morphology", + "eukaryotic cell", + "oxygen accumulating cell", + "Abnormal fundus morphology", + "Abnormality of bone marrow cell morphology", + "leukocyte", + "immune system", + "specifically dependent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + ], + "has_phenotype_count": 30, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0013499", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group P", + "full_name": None, + "deprecated": None, + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.", + "xref": ["DOID:0111092", "GARD:15731", "OMIM:613951"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": [ + "FANCP", + "Fanconi Anemia, complementation group type P", + "Fanconi anaemia caused by mutation in SLX4", + "Fanconi anaemia caused by mutation in Slx4", + "Fanconi anaemia complementation group type P", + "Fanconi anemia caused by mutation in SLX4", + "Fanconi anemia caused by mutation in Slx4", + "Fanconi anemia complementation group type P", + "Fanconi anemia, complementation group P", + "SLX4 Fanconi anaemia", + "SLX4 Fanconi anemia", + "Slx4 Fanconi anaemia", + "Slx4 Fanconi anemia", + ], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": [ "HP:0002984", - "UPHENO:0012274", - "UPHENO:0086633", - "UPHENO:0087510", - "NCBITaxon:33208", - "HP:0410008", - "UBERON:0010314", - "HP:0009826", - "GO:0006259", - "OBI:0100026", - "GO:0005623", - "UPHENO:0004523", - "UPHENO:0076702", - "UBERON:0011250", + "HP:0009777", + "HP:0000957", + "HP:0000252", + "HP:0002860", + "HP:0001510", + "HP:0000581", + "HP:0001876", + "HP:0000347", + "HP:0009778", + "HP:0000414", + "HP:0001903", + "HP:0012745", + "HP:0000085", + "HP:0003221", + "HP:0004322", + "HP:0000365", + "HP:0000028", + "HP:0000125", + "HP:0001045", + ], + "has_phenotype_label": [ + "Hypoplasia of the radius", + "Absent thumb", + "Cafe-au-lait spot", + "Microcephaly", + "Squamous cell carcinoma", + "Growth delay", + "Blepharophimosis", + "Pancytopenia", + "Micrognathia", + "Short thumb", + "Bulbous nose", + "Anemia", + "Short palpebral fissure", + "Horseshoe kidney", + "Chromosomal breakage induced by crosslinking agents", + "Short stature", + "Hearing impairment", + "Cryptorchidism", + "Pelvic kidney", + "Vitiligo", + ], + "has_phenotype_closure": [ + "HP:0000086", + "GO:0022414", + "UPHENO:0053580", + "UPHENO:0005597", "UPHENO:0049367", - "UPHENO:0022529", - "UBERON:0010703", - "UBERON:0015023", - "UBERON:0003607", - "UPHENO:0087518", - "UPHENO:0076805", - "UBERON:0001017", - "UBERON:0003645", - "UBERON:0003129", - "UPHENO:0002830", - "HP:0007364", - "HP:0100547", - "NCBITaxon:6072", - "UPHENO:0002910", - "HP:0002011", - "HP:0009121", - "UPHENO:0002764", - "HP:0001172", - "HP:0000240", - "HP:0012443", - "HP:0012639", - "UPHENO:0081435", - "UBERON:0000948", - "HP:0040070", - "GO:0048519", - "UBERON:0002090", - "UPHENO:0000543", - "UBERON:0002471", - "UPHENO:0076718", + "UPHENO:0002598", + "UBERON:0004054", + "UBERON:0000473", + "UBERON:0001968", + "HP:0000078", + "UPHENO:0078452", + "GO:0048232", + "UPHENO:0049940", + "UPHENO:0052778", + "HP:0000032", + "CL:0000039", + "CL:0000413", + "UBERON:0000990", + "UPHENO:0049701", + "GO:0032504", + "UPHENO:0086198", + "HP:0000035", + "UPHENO:0005016", + "UBERON:0000463", + "UPHENO:0078729", + "HP:0008669", + "UBERON:0004176", + "GO:0007283", + "GO:0007276", + "UPHENO:0087547", + "CL:0000408", + "UBERON:0003101", + "UPHENO:0050101", + "UPHENO:0002378", + "UPHENO:0049985", + "UPHENO:0085194", + "GO:0019953", + "GO:0003006", + "GO:0048609", + "HP:0012243", + "HP:0000811", + "GO:0000003", + "UBERON:0005156", + "UPHENO:0003055", + "UPHENO:0049970", + "CL:0000586", + "UPHENO:0085873", + "UPHENO:0002371", + "UPHENO:0086201", + "UPHENO:0087802", + "GO:0050954", + "HP:0000598", + "HP:0000028", + "UPHENO:0052231", + "GO:0007605", + "UPHENO:0005433", + "UPHENO:0052178", + "UPHENO:0050625", + "UPHENO:0005518", + "UPHENO:0052970", + "UBERON:0002105", + "HP:0012874", + "UPHENO:0002332", + "UPHENO:0081424", + "UPHENO:0081423", + "UPHENO:0080351", + "UPHENO:0075159", + "GO:0010556", + "GO:0009890", + "GO:0010605", + "GO:0031324", + "GO:0006259", + "GO:0071824", + "GO:0065007", + "UPHENO:0050021", + "GO:0010629", + "GO:0031049", + "GO:0060255", + "GO:0009889", + "GO:0031323", + "GO:0009892", + "GO:0090304", + "GO:0006996", "UPHENO:0050116", - "UBERON:0010323", - "UBERON:0011137", - "UBERON:0013768", - "NCBITaxon:131567", - "UPHENO:0008523", - "NCBITaxon:1", - "HP:0000707", - "HP:0009815", - "HP:0040195", + "HP:0003221", + "UPHENO:0049990", + "UPHENO:0050121", + "GO:0005623", + "UPHENO:0049700", + "GO:0010558", + "GO:0006325", + "UPHENO:0085875", + "GO:0050794", + "GO:0019222", + "GO:0006139", + "GO:0046483", + "HP:0001939", + "UPHENO:0050845", + "HP:0003220", + "GO:0050789", + "GO:0044238", + "UBERON:0011138", + "UBERON:0002513", + "GO:0048523", + "HP:0000079", + "HP:0011017", + "NCBITaxon:33208", + "UPHENO:0002536", + "HP:0006501", "HP:0000152", - "UBERON:0001890", - "NCBITaxon:33154", - "UPHENO:0081566", + "GO:0032501", + "UBERON:0013701", "UBERON:0000073", - "HP:0009777", - "UPHENO:0081790", - "PR:000050567", + "GO:0034641", + "HP:0000929", + "UPHENO:0060026", + "HP:0009380", + "UPHENO:0054970", + "UBERON:0001016", + "UPHENO:0020888", + "UPHENO:0082875", + "HP:0011355", + "UPHENO:0008523", + "UPHENO:0087518", + "GO:0043473", + "BFO:0000015", + "UPHENO:0049587", "UPHENO:0002844", - "HP:0001324", - "UBERON:0034923", - "UPHENO:0079876", - "UPHENO:0078606", - "UPHENO:0002896", - "UPHENO:0015280", - "HP:0009825", - "HP:0009824", - "HP:0045060", - "UBERON:5002544", - "UPHENO:0087907", - "UPHENO:0015290", - "HP:0040068", - "HP:0009802", - "HP:0009767", - "UPHENO:0025701", - "UBERON:0005944", - "UPHENO:0008668", - "UPHENO:0080555", - "UBERON:0003821", - "UPHENO:0080200", - "UBERON:0003221", - "UBERON:0001008", - "UBERON:0012357", - "UPHENO:0079870", - "UPHENO:0086589", - "UBERON:0005897", - "UBERON:0001630", - "UBERON:0001436", - "UBERON:0015043", - "UBERON:0009569", - "UBERON:0002374", - "UBERON:0000033", - "UBERON:0001460", - "UBERON:0010707", - "UPHENO:0002905", - "UPHENO:0084458", - "UPHENO:0087369", - "UPHENO:0080191", - "HP:0001167", - "UBERON:0002495", - "UBERON:0010740", + "HP:0030791", + "UBERON:0002097", + "UBERON:0002193", + "UBERON:0000004", + "UPHENO:0082682", + "NCBITaxon:1", + "HP:0001034", + "UPHENO:0076739", + "UPHENO:0080221", + "UPHENO:0080325", + "UBERON:0015203", + "UPHENO:0002642", + "NCBITaxon:2759", "UBERON:5001463", - "GO:0065007", - "UBERON:0010543", - "UBERON:0012150", - "HP:0040072", - "UBERON:0002204", - "HP:0040064", - "HP:0009380", - "UPHENO:0009341", - "UPHENO:0084448", - "HP:0009115", - "UBERON:0007811", - "UPHENO:0076765", - "UBERON:0003460", - "HP:0010009", - "UPHENO:0049874", - "PATO:0000001", - "UPHENO:0084447", - "HP:0002817", - "UPHENO:0076710", - "HP:0009834", - "UBERON:0010363", - "UPHENO:0076740", - "UPHENO:0087496", - "UBERON:0012358", - 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- "GO:0044237", - "GO:0031326", - "BFO:0000002", - "GO:0008152", - "HP:0002060", - "GO:0031324", + "UBERON:0000916", + "UPHENO:0002907", + "HP:0010935", + "UPHENO:0002595", + "UBERON:0004122", + "UBERON:0010323", + "UBERON:0000489", + "GO:0031052", + "HP:0000085", "UBERON:8450002", - "UPHENO:0087018", - "UPHENO:0021840", - "GO:0010558", - "UBERON:0004573", - "UPHENO:0081455", - "UBERON:0001062", - "UBERON:0010959", - "UBERON:0004708", - "UBERON:0000010", - "UBERON:0000026", - "HP:0003220", - "UBERON:0000481", - "UBERON:0012475", - "UBERON:0001480", - "UPHENO:0086635", - "UBERON:0010546", - "BFO:0000015", - "UBERON:0003656", - "UPHENO:0080079", - "UBERON:0001434", - "UPHENO:0002536", - "GO:0009987", - "UPHENO:0003587", - "HP:0010242", - "UPHENO:0046538", - "UBERON:0002428", - "GO:0044238", - "GO:0006807", - "UPHENO:0076799", - "GO:0090304", - "UBERON:0004535", - "HP:0000119", - "UBERON:0000061", - "UPHENO:0002696", - "GO:0060255", - "UPHENO:0001003", - "UBERON:0012151", - "UPHENO:0049990", - "UBERON:0007272", - "BFO:0000001", - "UPHENO:0020584", - "UBERON:0011584", - "HP:0001627", - "GO:0010629", - "UBERON:0000467", - "GO:0031049", - "UPHENO:0087501", - "UPHENO:0076723", - "CL:0000000", - "BFO:0000040", - "GO:0048523", + "UBERON:0005173", + "UPHENO:0041226", + "UBERON:0011143", + "UBERON:0005177", + "UBERON:0008962", + "UBERON:0001463", + "UBERON:0008907", + "HP:0012210", + "UPHENO:0087427", + "UPHENO:0050113", + "GO:0008152", ], "has_phenotype_closure_label": [ - "aplasia or hypoplasia of carpal bone", - "articulation", - "articular system", - "Abnormal joint morphology", - "carpal skeleton", - "mesopodial skeleton", - "Aplasia/Hypoplasia involving the carpal bones", - "Absent scaphoid", - "proximal carpal bone", - "carpus endochondral element", - "skeletal joint", - "proximal mesopodial bone", - "proximal carpal endochondral element", - "multi organ part structure", - "abnormal nerve", - "radiale", - "Abnormality of the peripheral nervous system", - "skeletal muscle organ, vertebrate", - "abnormality of nervous system physiology", - "Abnormal peripheral nerve morphology by anatomical site", - "face", - "Abnormal nervous system physiology", - "Abnormality of facial musculature", - "mesopodium bone", - "paralysed cranial nerve", - "Facial palsy", - "Abnormality of facial soft tissue", - "abnormal carpal region", - "subdivision of head", - "muscle organ", - "gustatory system", - "craniocervical region musculature", - "abnormal skeletal joint morphology in the pectoral complex", - "abnormal muscle organ morphology", - "Abnormal skeletal muscle morphology", - "abnormal musculature", - "Muscle weakness", - "neuron projection bundle", - "facial muscle", - "Abnormality of the musculature", - "facial nerve", - "cranial neuron projection bundle", - "Abnormal cranial nerve morphology", - "skeletal musculature", - "decreased anatomical entity strength", - "Abnormal muscle physiology", - "Abnormal peripheral nervous system morphology", - "musculature of face", - "aplastic carpal bone", - "musculature of body", - "multi cell part structure", - "Cranial nerve paralysis", - "paralysed anatomical entity", - "abnormal peripheral nervous system", - "abnormality of muscle organ physiology", - "decreased muscle organ strength", - "Abnormality of the seventh cranial nerve", - "abnormality of anatomical entity physiology", - "artery", - "vasculature", - "Abnormality of the wrist", - "cardiovascular system", - "blood vessel", - "Abnormal vascular morphology", - "systemic arterial system", - "anatomical conduit", - "arterial blood vessel", - "trunk blood vessel", - "great vessel of heart", - "anatomical cluster", - "abnormal radiale", - "Patent ductus arteriosus", - "circulatory organ", - "viscus", - "thoracic segment organ", - "vasculature of organ", - "vasculature of trunk", - "thoracic segment of trunk", - "vascular system", - "abnormal vasculature", - "Abnormal blood vessel morphology", - "abnormal heart morphology", - "embryonic cardiovascular system", - "disconnected anatomical group", - "Abnormal morphology of the great vessels", - "abnormal incomplete closing of the anatomical entity", - "Congenital malformation of the great arteries", - "heart plus pericardium", - "abnormal artery morphology", - "Abnormality of cardiovascular system morphology", - "heart vasculature", - "abnormal artery morphology in the independent continuant", - "Abnormality of the vasculature", - "abnormal great vessel of heart morphology", - "Weakness of facial musculature", - "abnormal cardiovascular system", - "abnormal blood vessel morphology", - "primary circulatory organ", - "vessel", - "abnormal vascular system morphology", - "abnormal peripheral nervous system morphology", - "abnormal ductus arteriosus morphology", - "aplastic forelimb zeugopod bone", - "Aplasia involving forearm bones", - "absent radius bone in the forelimb", - "absent radius bone in the independent continuant", - "absent radius bone", - "Absent forearm bone", - "growth", - "abnormal growth", - "carpal region", - "Growth delay", - "delayed biological_process", - "zeugopodial skeleton", - "radius bone hypoplasia", - "Short long bone", - "anatomical entity hypoplasia", - "decreased size of the anatomical entity in the pectoral complex", - "forelimb zeugopod skeleton", - "decreased size of the anatomical entity in the independent continuant", - "cranial or facial muscle", - "abnormal forelimb zeugopod bone", - "Abnormal forearm bone morphology", - "Aplasia/hypoplasia involving forearm bones", - "decreased length of anatomical entity", - "forelimb zeugopod bone hypoplasia", - "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "arm bone", - "blood vasculature", - "radius bone", - "Hypoplasia of the radius", - "decreased length of long bone", - "Limb undergrowth", - "Abnormal forearm morphology", + "Pelvic kidney", + "Ectopic kidney", + "reproductive process", + "Abnormal testis morphology", + "abnormal male reproductive system morphology", + "Abnormality of male external genitalia", + "Abnormal male reproductive system physiology", + "male gamete generation", + "sexual reproduction", + "developmental process involved in reproduction", + "multicellular organismal reproductive process", + "decreased developmental process", + "absent gamete", + "sperm", + "reproductive structure", + "decreased qualitatively developmental process", + "decreased spermatogenesis", + "external male genitalia", + "testis", + "Abnormal reproductive system morphology", + "Azoospermia", + "male germ cell", + "male gamete", + "abnormally localised anatomical entity in independent continuant", + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "Abnormal external genitalia", + "organism substance", + "semen", + "reproduction", + "abnormal testis morphology", + "abnormal number of anatomical enitites of type sperm", + "male reproductive system", + "abnormal location of anatomical entity", + "spermatogenesis", + "absent anatomical entity in the semen", + "abnormal developmental process involved in reproduction", + "Functional abnormality of male internal genitalia", + "abnormal gamete", + "Abnormality of reproductive system physiology", + "haploid cell", + "reproductive system", + "Cryptorchidism", + "external genitalia", + "internal genitalia", + "gonad", + "abnormal reproductive system morphology", + "abnormal internal genitalia", + "germ cell", + "gamete", + "abnormality of reproductive system physiology", + "absent germ cell", + "decreased qualitatively sensory perception of mechanical stimulus", + "abnormal developmental process", + "sensory perception", + "decreased sensory perception of sound", + "abnormal sensory perception", + "Hearing abnormality", + "abnormality of anatomical entity physiology", + "ear", + "multicellular organismal process", + "sensory perception of sound", + "system process", + "abnormal anatomical entity topology in independent continuant", + "decreased qualitatively sensory perception of sound", + "Short stature", + "abnormal size of multicellular organism", + "decreased height of the multicellular organism", + "abnormality of multicellular organism height", + "abnormal primary metabolic process", + "Abnormality of metabolism/homeostasis", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "vestibulo-auditory system", + "protein-DNA complex organization", + "nervous system process", + "abnormal nitrogen compound metabolic process", + "abnormal organelle organization", + "abnormal reproductive process", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "regulation of cellular metabolic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process", + "protein-containing complex organization", + "regulation of biological process", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", + "cellular metabolic process", + "abnormal cellular component organization", + "Chromosome breakage", + "negative regulation of gene expression", + "abnormal metabolic process", + "Chromosomal breakage induced by crosslinking agents", + "metabolic process", + "cellular process", + "abnormal DNA metabolic process", + "Abnormality of head or neck", "craniocervical region", - "Morphological central nervous system abnormality", - "zeugopod", - "abnormal anatomical entity morphology in the brain", - "abnormal brain morphology", + "regional part of brain", "aplasia or hypoplasia of telencephalon", - "organism", + "Aplasia/Hypoplasia involving the central nervous system", + "facial bone hypoplasia", + "abnormal external genitalia", + "Abnormal renal morphology", + "regional part of nervous system", + "abnormal external male genitalia", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "visual system", + "Abnormal skull morphology", + "Abnormal cellular immune system morphology", + "Abnormal cerebral morphology", + "arm bone", + "main body axis", + "abnormal kidney morphology", + "Narrow palpebral fissure", + "renal system", + "multi-tissue structure", "axial skeleton plus cranial skeleton", - "paired limb/fin skeleton", - "postcranial axial skeletal system", + "abnormality of internal male genitalia physiology", + "Abnormality of the nervous system", + "sensory system", + "abnormal nervous system", + "organic substance metabolic process", + "Abnormality of the head", + "abnormal pigmentation", + "pigmentation", + "decreased length of forelimb zeugopod bone", + "changed biological_process rate in independent continuant", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "Abnormality of skin pigmentation", + "skeleton of limb", + "neural crest-derived structure", + "aplasia or hypoplasia of skull", + "increased qualitatively biological_process", + "anatomical collection", + "All", + "increased biological_process in skin of body", + "abnormally increased volume of nose", + "increased biological_process", + "abnormal myeloid cell morphology", + "increased pigmentation in independent continuant", + "Abnormal oral morphology", + "abnormal anatomical entity morphology", + "increased pigmentation", + "increased qualitatively biological_process in independent continuant", + "absent sperm", + "limb segment", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "Cafe-au-lait spot", + "primary subdivision of skull", + "obsolete cellular nitrogen compound metabolic process", + "abnormal integument", + "biological_process", + "obsolete multicellular organism reproduction", + "cellular organisms", "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "Abnormality of chromosome stability", + "immaterial entity", + "abnormally localised testis", + "absent anatomical entity in the independent continuant", + "Aplasia/Hypoplasia of the thumb", + "bone cell", + "Abnormal myeloid cell morphology", + "abnormal manus morphology", + "Neoplasm", + "digit", + "Hyperpigmentation of the skin", + "abnormal manual digit 1 morphology", + "Short thumb", + "integumental system", "absent anatomical entity", - "central nervous system", - "Abnormal cranial nerve physiology", - "forebrain", - "Eukaryota", - "Abnormality of the musculoskeletal system", - "abnormal size of skull", - "abnormal organelle organization", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "gamete generation", + "protein-containing material entity", + "abnormal skeletal system morphology", + "Abnormal digit morphology", + "abnormal immune system morphology", + "Absent thumb", + "abnormal autopod region morphology", + "agenesis of anatomical entity", + "ectoderm-derived structure", + "abnormal anatomical entity morphology in the manus", + "abnormal facial skeleton morphology", + "negative regulation of cellular process", + "abnormal limb", + "bone marrow", + "skeleton of manus", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "organism", + "Neoplasm of the skin", + "anatomical system", + "segment of autopod", + "organic cyclic compound metabolic process", + "aplastic manual digit 1", + "dentary", + "independent continuant", + "abnormal growth", + "abnormal leukocyte morphology", + "abnormal size of anatomical entity", + "material anatomical entity", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", + "manual digit plus metapodial segment", + "Abnormal forearm morphology", + "abnormal anatomical entity", + "decreased size of the anatomical entity in the independent continuant", + "abnormal cellular process", + "secretory cell", + "Abnormal nervous system morphology", + "abnormal limb bone", + "sense organ", + "bone element", + "anatomical conduit", + "abnormal limb morphology", + "forelimb zeugopod skeleton", + "facial skeleton", + "paired limb/fin", + "Hypoplasia of the radius", "abnormal head morphology", + "abnormal multicellular organismal reproductive process", + "manual digit", + "U-shaped anatomical entity", + "multi-limb segment region", + "endochondral element", + "Forearm undergrowth", + "abnormal biological_process in independent continuant", + "decreased size of the anatomical entity", + "skeletal element", + "zeugopod", + "body proper", + "central nervous system", + "Abnormality of limb bone", "head", - "ectoderm-derived structure", - "abnormal craniocervical region morphology", - "abnormal skull morphology", - "Abnormal digit morphology", - "Abnormality of skull size", - "abnormal cardiovascular system morphology", - "Abnormality of head or neck", - "abnormal carpal bone morphology", - "abnormal DNA metabolic process", - "abnormal chromatin organization", + "digit plus metapodial segment", + "external soft tissue zone", + "abnormal skin of body morphology", + "increased biological_process in independent continuant", + "increased size of the anatomical entity", + "limb", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "trunk region element", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", + "zeugopodial skeleton", + "limb long bone", + "Short forearm", + "delayed biological_process", + "subdivision of digestive tract", + "limb endochondral element", + "Macule", + "negative regulation of biosynthetic process", + "long bone", + "material entity", + "decreased width of the palpebral fissure", + "Abnormal appendicular skeleton morphology", + "Abnormal skeletal morphology", + "Abnormal forebrain morphology", "forelimb", - "abnormal anatomical entity morphology in the skeleton of manus", + "decreased size of the anatomical entity in the pectoral complex", "autopodial skeleton", - "absent carpal bone in the limb", - "Abnormal morphology of the radius", - "bone of free limb or fin", - "abnormal anatomical entity", - "paired limb/fin", - "Abnormal appendicular skeleton morphology", - "Abnormality of upper limb joint", - "abnormal anatomical entity morphology in the manus", - "Aplasia/hypoplasia involving the skeleton", - "root", - "abnormal central nervous system morphology", - "carpal bone", - "Abnormal renal morphology", - "Abnormality of limbs", - "ductus arteriosus", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal proximal phalanx of manus morphology", - "abnormal metacarpal bone of digit 1 morphology", - "Aplasia involving bones of the extremities", - "Aplasia/Hypoplasia of the 1st metacarpal", - "system", - "Aplasia involving bones of the upper limbs", - "cranial nerve", - "pectoral appendage", - "abnormal nervous system", - "short bone", - "lateral structure", - "limb", - "mesoderm-derived structure", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormality of the face", - "cellular component organization or biogenesis", - "Phenotypic abnormality", - "abnormal digit morphology", - "Aplasia/Hypoplasia of the proximal phalanges of the hand", - "phenotype", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal manus", - "manual digit 1", - "abnormal metacarpal bone morphology", - "abnormal forelimb morphology", - "absent anatomical entity in the skeletal system", - "abnormal limb long bone morphology", + "Abnormal facial skeleton morphology", + "Aplasia/hypoplasia of the extremities", + "decreased qualitatively reproductive process", + "Hypoplastic facial bones", + "Aplasia/hypoplasia involving bones of the hand", + "negative regulation of macromolecule biosynthetic process", + "germ line cell", + "bone element hypoplasia in independent continuant", + "abnormal gamete generation", + "leukocyte", + "abnormal skin of body", + "Abnormality of bone marrow cell morphology", "abnormal cellular metabolic process", - "acropodium region", - "abnormal carpal bone", - "manual digit metacarpus endochondral element", + "Aplasia/Hypoplasia of facial bones", + "musculoskeletal system", + "absent digit", + "phenotype", + "Abnormal cell morphology", + "quality", + "anatomical entity hypoplasia", + "forelimb bone", + "Morphological central nervous system abnormality", + "Abnormality of the urinary system", + "forelimb skeleton", + "genitourinary system", + "primary metabolic process", + "Abnormality of the skin", + "forelimb endochondral element", + "abnormal number of anatomical enitites of type anatomical entity", "Finger aplasia", - "digitopodium region", - "manual digit 1 metacarpus endochondral element", - "aplasia or hypoplasia of metacarpal bone", - "abnormal anatomical entity morphology in the independent continuant", - "segment of manus", - "multi-limb segment region", - "endochondral element", - "Abnormal metacarpal morphology", - "abnormal nervous system morphology", - "abnormal cell", - "bone element", - "radius endochondral element", - "trunk", - "digit 1 plus metapodial segment", - "nervous system", - "skeleton of limb", + "abnormal number of anatomical enitites of type leukocyte", "limb bone", - "digit 1 digitopodial skeleton", - "manual digit digitopodial skeleton", - "Aplasia/Hypoplasia involving the metacarpal bones", - "abnormal arm", - "aplasia or hypoplasia of manual digit", - "absent forelimb zeugopod bone", - "absent metacarpal bone in the independent continuant", - "autopodial extension", - "abnormal kidney", - "acropodial skeleton", - "abnormal cranial nerve morphology", - "biological_process", - "subdivision of skeleton", - "protein-containing material entity", - "abnormal limb bone morphology", - "abnormal limb bone", - "paired limb/fin segment", - "Aplasia of the proximal phalanges of the hand", - "Aplasia/hypoplasia involving bones of the hand", - "systemic artery", - "structure with developmental contribution from neural crest", - "Abnormal long bone morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "manual digitopodium region", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal forebrain morphology", - "manus", - "abnormal craniocervical region", - "Microcephaly", - "manual digit plus metapodial segment", - "phalanx endochondral element", - "limb skeleton subdivision", - "skeleton of digitopodium", + "abnormal craniocervical region morphology", + "continuant", + "lateral structure", + "integument", "skeleton of pectoral complex", - "Abnormality of the nervous system", - "abnormal cellular component organization", - "appendicular skeletal system", - "Abnormal heart morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormal skeletal morphology", - "abnormal anatomical entity length", - "trunk region element", - "pectoral complex", - "anatomical collection", - "Forearm undergrowth", - "Aplasia/Hypoplasia of fingers", - "abnormal size of anatomical entity", - "metacarpal bone of digit 1", - "regional part of brain", - "metapodium region", - "abnormal appendicular skeleton morphology", - "Eumetazoa", - "segment of autopod", - "heart", - "upper limb segment", - "decreased size of the anatomical entity", - "abnormally localised anatomical entity in independent continuant", - "musculoskeletal system", + "decreased length of anatomical entity in independent continuant", + "paired limb/fin segment", "compound organ", - "autopod region", - "abnormal upper urinary tract", - "macromolecule metabolic process", - "bone of pectoral complex", - "obsolete nitrogen compound metabolic process", - "proximal phalanx", - "manual digit 1 or 5", - "metapodial skeleton", - "abnormally localised anatomical entity", - "Partial absence of thumb", - "digit 1 or 5", - "absent manual digit", - "abnormality of cranial nerve physiology", - "Abnormal hand morphology", - "Abnormal axial skeleton morphology", - "appendicular skeleton", - "All", - "absent anatomical entity in the forelimb", - "metacarpus region", - "abnormal manual digit morphology in the independent continuant", - "digit plus metapodial segment", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", - "manual digit phalanx endochondral element", - "abnormal location of anatomical entity", - "Aplasia of the 1st metacarpal", - "abnormal forelimb zeugopod morphology", - "manual digit 1 digitopodial skeleton", - "Absent thumb", - "manus bone", + "eye", "skeleton", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", "Abnormal finger morphology", - "abnormal manual digit 1 morphology", - "Abnormal cerebral morphology", - "aplasia or hypoplasia of manual digit 1 phalanx", - "Abnormality of thumb phalanx", - "Abnormal finger phalanx morphology", - "abnormal phalanx of manus morphology", - "absent metacarpal bone", - "abnormal facial muscle", - "Opisthokonta", - "metapodium bone", - "delayed growth", - "metacarpus skeleton", - "abnormal manus morphology", - "cell", - "phenotype by ontology source", - "forelimb long bone", - "circulatory system", + "Abnormal erythrocyte morphology", + "forelimb zeugopod", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "appendage", + "root", + "subdivision of skeleton", + "Aplasia/Hypoplasia of the radius", + "endochondral bone", + "paired limb/fin skeleton", + "abnormal spermatogenesis", + "organelle organization", + "postcranial axial skeletal system", + "abnormal digit morphology", + "skeleton of lower jaw", + "subdivision of organism along appendicular axis", + "skull", + "limb skeleton subdivision", + "abnormal forelimb zeugopod bone", + "Abnormal ocular adnexa morphology", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "decreased length of anatomical entity", + "bone of pectoral complex", + "entity", "subdivision of skeletal system", - "chromatin organization", - "manual digit 1 phalanx", - "upper urinary tract", - "skeletal system", - "manual digit 1 phalanx endochondral element", - "autopod bone", - "decreased length of anatomical entity in independent continuant", - "autopod endochondral element", - "Aplasia of the phalanges of the hand", - "phalanx of manus", - "Chromosome breakage", - "abnormal head", - "digit 1", - "regional part of nervous system", - "abnormal skeletal joint morphology in the independent continuant", - "abnormal face", - "aplastic anatomical entity", - "abnormal primary metabolic process", - "Abnormality of the hand", - "subdivision of organism along main body axis", - "Aplasia/Hypoplasia of the thumb", - "manual digit bone", - "absent anatomical entity in the metacarpus region", - "Abnormality of limb bone", - "skeleton of manual digitopodium", - "axial skeletal system", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal genitourinary system", - "Aplasia/hypoplasia involving bones of the extremities", - "anterior region of body", + "nervous system", + "forelimb zeugopod bone", + "Abnormality of brain morphology", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", + "forelimb zeugopod bone hypoplasia", + "abnormal limb bone morphology", + "abnormal phenotype by ontology source", + "decreased size of the mandible", + "absent manual digit", + "abnormal radius bone morphology", + "organ system subdivision", + "decreased length of palpebral fissure", + "abnormal blood cell", + "erythrocyte", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "membrane bone", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "system", + "bone marrow cell", + "appendicular skeletal system", + "Abnormal nasal morphology", "absent anatomical entity in the multicellular organism", - "long bone", - "anatomical entity hypoplasia in independent continuant", - "Short forearm", + "hematopoietic system", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively biological_process", + "anatomical entity", "bone of appendage girdle complex", - "proximal mesopodial endochondral element", - "brain", - "Aplasia/Hypoplasia of the phalanges of the hand", - "primary metabolic process", - "aplastic manual digit 1 phalanx", - "abdominal segment element", - "absent digit", - "abnormally localised kidney", - "Aplasia of metacarpal bones", - "abnormal phalanx morphology", - "aplasia or hypoplasia of proximal phalanx of manus", - "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the pectoral complex", + "decreased biological_process", + "radius bone hypoplasia", + "aplasia or hypoplasia of anatomical entity", + "absent sperm in the semen", + "Abnormal long bone morphology", "absent anatomical entity in the limb", - "abnormal postcranial axial skeleton morphology", - "telencephalon", - "manual digit 1 plus metapodial segment", - "Aplasia/Hypoplasia involving the central nervous system", - "protein-DNA complex organization", - "organ", - "programmed DNA elimination by chromosome breakage", + "Abnormal forearm bone morphology", + "abnormal pigmentation in independent continuant", + "Abnormality of the ocular adnexa", + "abnormally localised anatomical entity", + "Micrognathia", + "Microcephaly", + "Abnormality of the musculoskeletal system", + "abnormality of ear physiology", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "Abnormality of digestive system morphology", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormal arm", + "radius endochondral element", + "Aplasia/hypoplasia involving forearm bones", + "abnormal nose tip morphology", + "obsolete cellular aromatic compound metabolic process", "organism subdivision", - "thoracic cavity element", - "Abnormality of the kidney", - "cavitated compound organ", - "abnormal limb", - "digit", - "Abnormality of the skeletal system", - "abdominal segment of trunk", - "individual digit of digitopodial skeleton", - "body proper", - "abdomen element", - "subdivision of trunk", - "forelimb zeugopod", - "Abnormal nervous system morphology", - "genitourinary system", - "abnormal manual digit morphology in the manus", - "Ectopic kidney", - "regulation of cellular metabolic process", - "regulation of biological process", - "Abnormal thumb morphology", - "thoracic segment blood vessel", + "organ", + "abnormal male reproductive organ morphology", + "occurrent", + "skeletal system", + "motile cell", + "upper limb segment", + "appendicular skeleton", + "abnormal upper urinary tract", + "Limb undergrowth", + "abnormal face morphology", "arm", - "abnormal opening of the anatomical entity", - "subdivision of organism along appendicular axis", - "absent anatomical entity in the independent continuant", - "abnormal limb morphology", - "bone element hypoplasia in independent continuant", - "Abnormality of the cardiovascular system", - "Abnormal cellular physiology", - "multi-tissue structure", - "abnormal biological_process", - "abnormal anatomical entity morphology", - "cellular component organization", - "musculature", - "Abnormal skull morphology", - "Abnormality of the scaphoid", - "nucleobase-containing compound metabolic process", - "Abnormal 1st metacarpal morphology", - "heart blood vessel", - "process", - "organ system subdivision", + "abnormal nose morphology", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", "decreased size of the radius bone", - "skull", - "phalanx", - "multicellular organism", - "Carpal bone aplasia", - "agenesis of anatomical entity", - "abnormal renal system", - "postcranial axial skeleton", - "abnormal kidney morphology", - "negative regulation of macromolecule biosynthetic process", - "Abnormality of the genitourinary system", - "aplasia or hypoplasia of anatomical entity", - "aplastic phalanx of manus", - "forelimb zeugopod bone", - "quality", - "negative regulation of cellular biosynthetic process", - "aplasia or hypoplasia of radius bone", - "main body axis", - "cellular organisms", - "biological regulation", - "anatomical system", - "negative regulation of macromolecule metabolic process", - "metapodium bone 1", - "organic substance metabolic process", - "abnormal coronary vessel morphology", - "appendage", - "material anatomical entity", - "abdomen", - "abnormal metabolic process", - "coronary vessel", + "Abnormal cellular phenotype", + "subdivision of trunk", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "bone of lower jaw", + "mandible hypoplasia", "aplasia or hypoplasia of skeleton", - "aplasia or hypoplasia of metacarpal bone of digit 1", - "abnormal forebrain morphology", - "craniocervical muscle", - "negative regulation of gene expression", - "digitopodium bone", - "limb segment", - "abnormal anatomical entity topology in independent continuant", - "negative regulation of metabolic process", - "manual digitopodium bone", - "abnormal skeletal system morphology", - "abnormal facial nerve", - "peripheral nervous system", - "obsolete cell", - "occurrent", - "regulation of cellular process", - "regulation of gene expression", - "abnormal nitrogen compound metabolic process", - "appendage girdle complex", - "abnormal telencephalon morphology", - "outflow tract", - "cellular process", + "abnormal craniocervical region", + "abnormal mouth", + "male organism", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "digit 1 plus metapodial segment", "abnormal skeletal system", - "cellular metabolic process", - "abnormal anatomical entity morphology in the heart", - "endochondral bone", - "specifically dependent continuant", - "nerve", - "limb long bone", - "absent radiale", + "subdivision of head", + "appendage girdle complex", + "macromolecule metabolic process", + "manual digit 1", "regulation of metabolic process", - "arterial system", + "autopodial extension", + "abnormal face", + "abnormal telencephalon morphology", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "tissue", + "forelimb long bone", + "abnormal size of skull", + "cell", + "Abnormality of the mouth", + "Eumetazoa", + "negative regulation of cellular metabolic process", + "Eukaryota", + "decreased length of manual digit", + "abnormal central nervous system morphology", + "abnormal reproductive system", + "abnormal kidney", + "abnormal forebrain morphology", + "abnormal nervous system morphology", + "abnormal cell morphology", + "telencephalon", + "forebrain", + "blood cell", + "head bone", + "Abnormality of the genitourinary system", + "cranial skeletal system", + "postcranial axial skeleton", + "Decreased head circumference", + "pectoral complex", + "dermatocranium", + "Abnormal axial skeleton morphology", + "erythroid lineage cell", + "obsolete heterocycle metabolic process", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", + "mesoderm-derived structure", + "Squamous cell carcinoma", + "delayed growth", + "axial skeletal system", + "Growth abnormality", + "aplasia or hypoplasia of manual digit", + "face", + "abnormal orbital region", + "Abnormal localization of kidney", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", + "kidney", + "abnormal biological_process", + "Growth delay", + "digestive system element", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "decreased width of the anatomical entity", + "Abnormality of the upper urinary tract", + "Vitiligo", + "acropodium region", + "Short palpebral fissure", + "Abnormal eyelid morphology", + "multi organ part structure", + "hemolymphoid system", + "organ part", + "Abnormality of the orbital region", + "Abnormal size of the palpebral fissures", + "non-connected functional system", + "orbital region", + "camera-type eye", + "Abnormality of the hand", + "radius bone", + "Anemia", + "palpebral fissure", + "Abnormality of the ear", + "eyelid", + "Blepharophimosis", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "abdomen element", + "reproductive organ", + "Short long bone", + "abnormal skull morphology", + "abnormal palpebral fissure", + "Abnormal mandible morphology", + "abnormally decreased number of cell", + "abnormal size of palpebral fissure", + "Non-obstructive azoospermia", + "abnormal ocular adnexa", "abnormal bone of pectoral complex morphology", - "organic cyclic compound metabolic process", - "obsolete cellular aromatic compound metabolic process", - "Abnormality of the upper urinary tract", - "Aplasia/Hypoplasia of the phalanges of the thumb", - "obsolete cellular nitrogen compound metabolic process", - "kidney", + "orifice", + "ocular adnexa", + "simple eye", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "manus", + "abnormal eyelid morphology", + "decreased height of the anatomical entity", + "regulation of cellular process", + "Abnormality of the face", + "phenotype by ontology source", + "abnormal ocular adnexa morphology", + "Abnormality of the palpebral fissures", + "abnormal hematopoietic system", + "Abnormality of the immune system", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "abnormal limb long bone morphology", + "eukaryotic cell", + "hematopoietic cell", + "anucleate cell", + "changed biological_process rate", + "external nose", + "oxygen accumulating cell", + "nucleate cell", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "abnormal number of anatomical enitites of type cell", + "sensory perception of mechanical stimulus", + "skin of body", + "Abnormal upper limb bone morphology", + "abnormally decreased number of anatomical entity", + "Abnormal immune system morphology", + "pectoral appendage skeleton", + "abnormal blood cell morphology", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "absent sperm in the independent continuant", + "platelet", + "abnormal brain morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal immune system", + "abnormal hematopoietic system morphology", "abnormal programmed DNA elimination by chromosome breakage", - "Abnormality of brain morphology", - "abnormal cellular process", - "regulation of biosynthetic process", - "abnormal skeletal joint morphology", - "decreased length of forelimb zeugopod bone", - "Aplasia/hypoplasia of the extremities", - "absent carpal bone in the independent continuant", - "abnormal systemic artery morphology", - "Decreased head circumference", - "mesopodium region", - "Absent radius", - "nucleic acid metabolic process", - "nerve of head region", - "metabolic process", - "abnormal phenotype by ontology source", - "negative regulation of cellular metabolic process", - "skeletal musculature of head", - "abnormal long bone morphology", - "entity", - "protein-containing complex organization", - "aplastic metacarpal bone of digit 1", - "Abnormality of the urinary system", - "anatomical structure", - "Abnormality of metabolism/homeostasis", - "renal system", + "specifically dependent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + "male reproductive organ", + "disconnected anatomical group", + "abnormal cell", + "cavitated compound organ", + "Abnormal leukocyte count", + "primary subdivision of cranial skeletal system", + "abnormal hematopoietic cell morphology", + "digit 1", + "abnormal platelet morphology", + "Abnormal platelet morphology", + "Abnormal leukocyte morphology", + "internal male genitalia", + "programmed DNA elimination", + "obsolete cell", + "decreased length of long bone", + "digestive system", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "abnormally decreased number of platelet", + "Abnormal platelet count", + "nucleobase-containing compound metabolic process", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "abnormal manus", + "bone element hypoplasia in face", + "digit 1 or 5", + "U-shaped kidney", + "bone of jaw", + "subdivision of tube", + "aplasia or hypoplasia of mandible", + "Abnormality of the digestive system", + "abnormal forelimb morphology", + "abnormal digestive system morphology", + "abnormal digit", + "lower jaw region", + "Pancytopenia", + "decreased width of the anatomical entity in independent continuant", + "abnormal head", + "jaw region", + "abnormality of anatomical entity height", + "subdivision of organism along main body axis", + "dermal skeletal element", + "Abnormality of the integument", + "increased size of the anatomical entity in independent continuant", + "abnormal male reproductive system", + "abnormal mouth morphology", + "mouth", + "abnormal mandible morphology", + "abnormal head bone morphology", + "Aplasia/Hypoplasia involving bones of the skull", + "Abnormality of body height", + "tube", + "Abnormality of the genital system", + "intramembranous bone", + "structure with developmental contribution from neural crest", + "bone of craniocervical region", + "anatomical entity hypoplasia in face", + "mandible", + "immune system", + "facial bone", + "Abnormality of thrombocytes", "Upper limb undergrowth", + "jaw skeleton", + "dermal bone", + "negative regulation of biological process", + "digestive tract", "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "aplastic manual digit 1", - "continuant", - "regulation of macromolecule metabolic process", - "regulation of cellular biosynthetic process", - "conceptus", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormality of limb bone morphology", - "aplasia or hypoplasia of phalanx of manus", - "cranial muscle", - "independent continuant", - "Abnormal proximal phalanx morphology of the hand", - "forelimb skeleton", - "absent metacarpal bone in the metacarpus region", - "skeleton of manual acropodium", - "axial musculature", + "dermal skeleton", + "abnormal digestive system", + "abnormal ear", + "Abnormal jaw morphology", + "abnormal jaw skeleton morphology", + "Short finger", + "Short digit", + "anterior region of body", + "decreased length of manual digit 1", + "Abnormal nasal tip morphology", + "aplastic anatomical entity", + "Bulbous nose", + "Abnormal external nose morphology", + "entire sense organ system", + "abnormal external nose morphology", + "nose", + "immaterial anatomical entity", + "Abnormality of the nose", + "Aplasia/Hypoplasia of the mandible", + "abnormally decreased number of myeloid cell", + "abnormal nose", + "abnormally increased volume of anatomical entity", + "nose tip", + "anatomical point", + "olfactory organ", + "abnormal erythrocyte morphology", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", + "trunk", + "abnormal bone marrow cell", + "abnormal shape of continuant", "excretory system", - "negative regulation of cellular process", - "cranial skeletal system", - "abnormal digit", - "metacarpal bone", - "material entity", - "Growth abnormality", + "Abnormal cellular physiology", + "3-D shape anatomical entity in independent continuant", + "3-D shape anatomical entity", + "abnormal manual digit morphology in the independent continuant", + "shape anatomical entity in independent continuant", + "manual digit 1 plus metapodial segment", + "abdomen", + "biological regulation", + "abdominal segment of trunk", + "abdominal segment element", + "Abnormality of the kidney", + "Horseshoe kidney", + "developmental process", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "shape kidney", + "abnormal renal system", + "changed developmental process rate", + "abnormal genitourinary system", + "Abnormality of the male genitalia", + "manual digitopodium region", + "Abnormality of blood and blood-forming tissues", + "decreased length of digit", + "upper urinary tract", + "anatomical entity hypoplasia in independent continuant", + "shape anatomical entity", + "concave 3-D shape anatomical entity", "abnormal renal system morphology", - "programmed DNA elimination", - "proximal phalanx of manus", - "forelimb bone", - "Abnormal localization of kidney", - "muscle structure", - "Abnormality of the head", - "Abnormal carpal morphology", - "skeletal element", - "Abnormal upper limb bone morphology", - "limb endochondral element", - "anatomical entity", - "abnormal autopod region morphology", - "Unilateral facial palsy", - "forelimb endochondral element", - "manual digit", - "DNA metabolic process", - "negative regulation of biosynthetic process", - "obsolete heterocycle metabolic process", - "organelle organization", - "abnormal incomplete closing of the ductus arteriosus", - "negative regulation of biological process", - "pectoral appendage skeleton", - "Abnormal cellular phenotype", + "abnormal chromatin organization", + "chromatin organization", + "negative regulation of cellular biosynthetic process", + "pectoral appendage", + "regulation of gene expression", + "cellular component organization", ], - "has_phenotype_count": 11, + "has_phenotype_count": 20, "highlight": None, "score": None, }, { - "id": "MONDO:0054748", + "id": "MONDO:0014986", "category": "biolink:Disease", - "name": "Fanconi anemia, complementation group S", + "name": "Fanconi anemia complementation group R", "full_name": None, "deprecated": None, - "description": None, - "xref": ["GARD:16264", "OMIM:617883"], + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene.", + "xref": ["DOID:0111090", "GARD:16214", "OMIM:617244", "UMLS:C4284093"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, "synonym": [ - "FANCS", - "Fanconi anemia, complementation GROUP S", - "Fanconi anemia, complementation group S", + "FANCR", + "Fanconi Anemia, complementation group R", + "Fanconi Anemia, complementation group type R", + "Fanconi anaemia caused by mutation in RAD51", + "Fanconi anaemia complementation group type R", + "Fanconi anemia caused by mutation in RAD51", + "Fanconi anemia complementation group type R", + "Fanconi anemia, complementation GROUP R", + "RAD51 Fanconi anaemia", + "RAD51 Fanconi anemia", ], "uri": None, "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0100615", "HP:0001249", - "HP:0040012", + "HP:0009777", + "HP:0000238", + "HP:0006433", + "HP:0002650", + "HP:0002023", "HP:0000252", - "HP:0008070", - "HP:0000280", - "HP:0000430", - "HP:0000750", - "HP:0000316", - "HP:0000581", - "HP:0000527", + "HP:0001510", + "HP:0006349", + "HP:0000125", + "HP:0005528", "HP:0000568", - "HP:0000689", - "HP:0000426", - "HP:0000294", - "HP:0001263", - "HP:0003002", - "HP:0025318", - "HP:0000215", - "HP:0030084", + "HP:0007099", "HP:0001903", - "HP:0001508", - "HP:0001251", - "HP:0004322", - "HP:0000463", - "HP:0000189", - "HP:0000582", - "HP:0001572", - "HP:0000286", - "HP:0009623", + "HP:0003221", + "HP:0031936", + "HP:0002144", + "HP:0003764", ], "has_phenotype_label": [ - "Ovarian neoplasm", "Intellectual disability", - "Chromosome breakage", + "Absent thumb", + "Hydrocephalus", + "Radial dysplasia", + "Scoliosis", + "Anal atresia", "Microcephaly", - "Sparse hair", - "Coarse facial features", - "Underdeveloped nasal alae", - "Delayed speech and language development", - "Hypertelorism", - "Blepharophimosis", - "Long eyelashes", + "Growth delay", + "Agenesis of permanent teeth", + "Pelvic kidney", + "Bone marrow hypocellularity", "Microphthalmia", - "Dental malocclusion", - "Prominent nasal bridge", - "Low anterior hairline", - "Global developmental delay", - "Breast carcinoma", - "Ovarian carcinoma", - "Thick upper lip vermilion", - "Clinodactyly", + "Chiari type I malformation", "Anemia", - "Failure to thrive", - "Ataxia", - "Short stature", - "Anteverted nares", - "Narrow palate", - "Upslanted palpebral fissure", - "Macrodontia", - "Epicanthus", - "Proximal placement of thumb", + "Chromosomal breakage induced by crosslinking agents", + "Delayed ability to walk", + "Tethered cord", + "Nevus", ], "has_phenotype_closure": [ - "UBERON:0019221", - "UBERON:0001460", - "UBERON:0002389", - "UBERON:5001463", - "UPHENO:0084448", - "HP:0002817", - "UBERON:0006048", - "UPHENO:0002708", - "UPHENO:0084834", - "HP:0009484", - "UPHENO:0002880", - "HP:0004097", - "UBERON:0002102", - "HP:0009623", - "UPHENO:0084841", - "UPHENO:0076724", - "HP:0001155", - "UPHENO:0086633", - "UBERON:0012180", - "UBERON:0000014", - "UBERON:0001712", - "UPHENO:0072402", - "UPHENO:0087058", - "UPHENO:0001034", - "UPHENO:0087300", - "UBERON:0003913", - "HP:0001572", - "UPHENO:0086824", - "HP:0000189", - "UBERON:0001716", - "UPHENO:0002915", - "UBERON:0005726", - "UPHENO:0080351", - "HP:0001510", - "UPHENO:0081424", - "UBERON:0008785", - "UBERON:0004710", - "UPHENO:0069254", - "NBO:0000751", - "NBO:0000317", - "UPHENO:0074360", - "UPHENO:0074367", - "NBO:0000308", - "UBERON:0001457", - "NBO:0000607", - "UBERON:0012141", - "UPHENO:0080275", - "UPHENO:0052915", - "UPHENO:0076760", - "HP:0004323", - "UPHENO:0082794", - "UPHENO:0010763", - "UPHENO:0080377", - "UPHENO:0053208", - "GO:0040007", - "HP:0004325", - "UPHENO:0082761", + "HP:0001574", + "HP:0011121", + "UBERON:0002416", + "UPHENO:0002635", + "UBERON:0005174", + "HP:0002144", + "UBERON:0002240", + "HP:0012758", + "HP:0001270", + "HP:0002194", + "GO:0009890", + "GO:0031324", + "GO:0071824", + "UPHENO:0050021", + "GO:0010629", + "GO:0031049", + "GO:0060255", + "GO:0009889", + "GO:0048523", + "GO:0043933", + "UPHENO:0050116", + "GO:0006996", + "HP:0001939", + "HP:0003221", + "UPHENO:0049990", + "UPHENO:0050121", + "GO:0005623", + "UPHENO:0049748", + "GO:0010468", + "GO:0031327", + "GO:0006325", + "GO:0050794", + "GO:0019222", + "GO:0006139", + "GO:0043170", + "UPHENO:0050845", + "HP:0003220", + "GO:0071704", + "GO:0008152", + "UPHENO:0050113", + "HP:0012130", "UPHENO:0088162", + "CL:0000764", + "CL:0000232", + "CL:0000081", + "UPHENO:0020013", + "HP:0011282", + "UPHENO:0081601", + "UPHENO:0071309", + "HP:0007099", + "UBERON:0004732", + "UPHENO:0072814", + "HP:0001317", + "UBERON:0000063", + "HP:0002438", + "UPHENO:0069523", + "HP:0012372", + "UBERON:0004088", + "HP:0000568", + "UPHENO:0012541", + "UPHENO:0075219", + "HP:0008056", + "HP:0000478", + "HP:0000315", + "UPHENO:0068971", + "UPHENO:0021474", + "UBERON:0034923", + "UPHENO:0002948", + "HP:0025354", + "UPHENO:0087123", + "HP:0012145", + "HP:0001871", + "HP:0005528", + "CL:0000000", + "UPHENO:0087339", + "UPHENO:0087355", + "HP:0020047", + "CL:0002092", + "HP:0002715", + "UBERON:0002371", + "UPHENO:0049367", + "UPHENO:0087858", + "HP:0012210", + "UBERON:0005177", "UPHENO:0085118", - "UPHENO:0004459", - "HP:0001167", + "UBERON:0002113", + "UPHENO:0053580", + "UBERON:0011143", + "GO:0031052", + "UBERON:0000489", + "UBERON:0005173", + "UBERON:0002417", + "UBERON:8450002", + "UBERON:0004122", + "HP:0010935", + "UBERON:0003103", + "UBERON:0000916", + "HP:0100542", + "UBERON:0009569", + "UPHENO:0075902", + "UPHENO:0081755", + "UBERON:0001008", + "CL:0000329", + "HP:0000271", + "HP:0000086", + "UBERON:0003672", + "HP:0011044", + "UBERON:0003913", + "CL:0000763", + "HP:0031816", + "HP:0000164", + "UBERON:0001091", + "GO:0034641", + "UPHENO:0011564", + "UBERON:0004921", + "UPHENO:0003020", + "UBERON:0002553", + "UBERON:0007774", + "GO:0065007", + "UPHENO:0081526", + "HP:0000951", + "UPHENO:0002828", + "UBERON:0000167", + "UPHENO:0076800", + "UPHENO:0002910", + "UBERON:0000466", + "UBERON:0013522", + "UPHENO:0000543", + "UPHENO:0049874", + "HP:0001507", + "UBERON:0001456", + "UPHENO:0000541", + "HP:0001510", + "UPHENO:0002764", + "NCBITaxon:6072", + "UPHENO:0075195", + "UBERON:0007811", + "UBERON:0001137", + "UBERON:0000033", + "GO:0006725", + "UBERON:0001893", + "UBERON:0000970", + "NCBITaxon:33154", + "UBERON:0001890", + "UPHENO:0080200", + "UBERON:0002616", + "UPHENO:0087472", + "UBERON:0010323", + "UPHENO:0076739", + "HP:0007364", + "HP:0000234", + "HP:0000252", + "NCBITaxon:1", + "HP:0002308", + "UPHENO:0081566", + "UPHENO:0087907", + "HP:0000119", + "HP:0000152", + "UPHENO:0075220", + "HP:0000240", "CL:0000988", - "HP:0001903", - "UPHENO:0088170", - "CL:0000764", - "UBERON:0002193", - "UPHENO:0084928", - "UPHENO:0085068", - "HP:0001507", - "HP:0001871", - "CL:0000081", - "HP:0012130", - "UBERON:0005881", - "HP:0040068", + "HP:0002060", + "GO:0050789", + "UBERON:0013701", + "UBERON:0001032", + "UBERON:0000481", + "UBERON:5002389", + "BFO:0000003", + "GO:0010556", + "UBERON:0000165", + "PR:000050567", + "UBERON:0002204", + "UPHENO:0020041", + "UPHENO:0086700", + "UBERON:0002529", + "HP:0003764", + "UBERON:0019221", + "GO:0040007", + "UBERON:0001460", + "UPHENO:0020584", + "UBERON:0013702", "HP:0002813", - 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"UBERON:0010912", + "UPHENO:0063565", ], "has_phenotype_closure_label": [ - "abnormal anatomical entity morphology in the manus", - "Proximal placement of thumb", - "pectoral appendage", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormal manus", - "multi-limb segment region", - "manual digit plus metapodial segment", - "abnormal arm", - "abnormal manual digit morphology in the manus", - "Abnormality of the upper limb", - "manual digitopodium region", - "manus", - "pectoral complex", - "upper limb segment", - "Abnormal hand morphology", - "Deviation of the hand or of fingers of the hand", - "abnormal manus morphology", - "arm", - "manual digit", - "skin of head", - "zone of skin", - "abnormal zone of skin morphology", - "tooth-like structure", - "Macrodontia", - "calcareous tooth", - "abnormal calcareous tooth morphology", - "Slanting of the palpebral fissure", - "roof of mouth", - "abnormal roof of mouth morphology", - "Narrow palate", - "abnormal secondary palate morphology", - "decreased width of the secondary palate", - "Abnormal nostril morphology", - "chemosensory system", - "olfactory system", - "external naris", - "abnormal size of multicellular organism", - "decreased height of the anatomical entity", - "decreased size of the multicellular organism", - "abnormality of anatomical entity height", - "delayed growth", - "Abnormality of body height", - "decreased height of the multicellular organism", - "delayed biological_process", - "decreased qualitatively response to stimulus", - "motor coordination", - "abnormally decreased rate of motor coordination", - "cognitive behavior", - "vestibular behavior", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "abnormally decreased rate of behavior process", - "somatic sensation related behavior", - "Abnormality of coordination", - "epicanthal fold", - "Abnormal central motor function", - "decreased motor coordination", - "sensation behavior", - "decreased multicellular organism mass", - "growth", - "abnormal growth", - "Failure to thrive", - "abnormality of multicellular organism mass", - "Decreased body weight", - "decreased qualitatively biological_process", - "Decreased multicellular organism mass", - "decreased anatomical entity mass", - "abnormal hematopoietic system", - "Abnormal myeloid cell morphology", - "myeloid cell", - "Abnormal erythroid lineage cell morphology", - "oxygen accumulating cell", + "Abnormality of the skin", + "abnormal skin of body morphology", + "skin of body", + "integument", + "integumental system", + "Nevus", + "Abnormal spinal cord morphology", + "spinal cord", + "Abnormal conus terminalis morphology", + "dorsum", + "abnormal primary metabolic process", + "negative regulation of biosynthetic process", + "abnormal organelle organization", + "programmed DNA elimination", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "nucleic acid metabolic process", + "protein-containing complex organization", + "regulation of biological process", + "primary metabolic process", + "obsolete nitrogen compound metabolic process", + "cellular component organization or biogenesis", + "abnormal cellular component organization", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "Chromosomal breakage induced by crosslinking agents", + "metabolic process", + "abnormal cellular process", + "regulation of cellular process", + "negative regulation of biological process", + "organelle organization", + "obsolete cellular nitrogen compound metabolic process", + "regulation of gene expression", + "negative regulation of cellular biosynthetic process", + "chromatin organization", + "Chromosome breakage", + "abnormal chromatin organization", "abnormal erythroid lineage cell morphology", + "Abnormal erythrocyte morphology", + "abnormal hematopoietic cell morphology", + "abnormal spinal cord morphology", + "Abnormal erythroid lineage cell morphology", "abnormal myeloid cell morphology", - "Abnormal cell morphology", + "oxygen accumulating cell", + "hematopoietic cell", + "abnormally formed anatomical entity", + "segmental subdivision of nervous system", + "hindbrain", + "Abnormal metencephalon morphology", + "Cerebellar malformation", + "Motor delay", + "regulation of macromolecule biosynthetic process", + "abnormal size of eyeball of camera-type eye", + "abnormal face morphology", + "cellular metabolic process", + "simple eye", + "abnormal integument", + "eyeball of camera-type eye", + "decreased size of the anatomical entity in the independent continuant", + "orbital region", + "Abnormality of the orbital region", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", + "decreased size of the eyeball of camera-type eye", + "Anemia", + "camera-type eye", + "abnormal bone marrow cell", "Abnormality of blood and blood-forming tissues", - "abnormal erythrocyte morphology", - "subdivision of organism along appendicular axis", - "bone of free limb or fin", - "limb endochondral element", - "Abnormality of limbs", - "Abnormal appendicular skeleton morphology", - "digitopodium region", - "skeleton of limb", - "secondary palate", - "abnormal cell morphology", - "limb bone", - "digit plus metapodial segment", - "appendage", - "erythrocyte", - "abnormal limb bone morphology", - "abnormal limb bone", - "abnormal anatomical entity morphology in the appendage girdle complex", - "limb skeleton subdivision", - "abnormal appendicular skeleton morphology", - "autopod region", - "mesoderm-derived structure", - "abnormal digit", - "endochondral bone", - "Short stature", - "Abnormality of limb bone", - "deviation of anatomical entity towards the middle", - "Abnormal palate morphology", - "Abnormality of limb bone morphology", - "Thick vermilion border", - "zone of organ", - "upper lip", - "Thick upper lip vermilion", - "digit 1 plus metapodial segment", - "trunk", - "thoracic segment of trunk", - "subdivision of trunk", - "abnormal chest morphology", - "Abnormal thorax morphology", + "abnormal cell", + "immune system", + "disconnected anatomical group", + "abnormal immune system", + "non-connected functional system", + "Abnormal cellular phenotype", + "Abnormality of the integument", + "abnormal skin of body", + "Abnormality of bone marrow cell morphology", "hemolymphoid system", - "Neoplasm of the breast", - "abnormal chest", - "Abnormal breast morphology", - "abnormal manual digit morphology in the independent continuant", - "Breast carcinoma", - "Abnormality of the breast", - "abnormal breast morphology", - "Global developmental delay", - "hairline", - "scalp", - "forehead", - "hair of head", - "abnormal scalp", - "manual digit 1", - "Abnormality of the forehead", - "abnormal forehead", - "Anemia", - "Congenital abnormal hair pattern", - "abnormally protruding anatomical entity", - "prominent anatomical entity", - "snout", - "abnormal midface morphology", - "abnormal nasal bridge morphology", - "abnormal snout morphology", - "nasal bridge", - "Deviation of finger", - "Abnormal midface morphology", - "tooth row", - "subdivision of tube", - "Abnormality of the frontal hairline", - "anatomical row", + "Abnormality of the immune system", + "abnormal hematopoietic system", + "abnormal renal system morphology", + "abnormal anatomical entity topology in independent continuant", + "abnormal genitourinary system", + "abnormally localised anatomical entity", + "Ectopic kidney", + "abnormal renal system", + "negative regulation of cellular metabolic process", + "abnormal bone marrow cell morphology", + "abdomen element", + "abnormal eyeball of camera-type eye", + "Abnormality of the kidney", + "abnormally localised anatomical entity in independent continuant", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "abdominal segment element", + "abdominal segment of trunk", + "abdomen", + "Abnormality of the upper urinary tract", + "abnormal bone marrow morphology", + "abnormal location of anatomical entity", + "abnormal erythrocyte morphology", + "Abnormal number of permanent teeth", + "abnormally localised kidney", + "abnormally decreased number of anatomical entity in the multicellular organism", + "Abnormality of the face", + "Agenesis of permanent teeth", + "abnormally decreased number of anatomical entity", + "anatomical cavity", + "abnormally decreased number of calcareous tooth", + "cellular component organization", + "abnormal number of anatomical enitites of type calcareous tooth", + "secondary dentition", + "abnormal mouth morphology", + "calcareous tooth", "dentition", - "midface", - "digestive system", - "primary subdivision of skull", - "jaw skeleton", - "decreased length of anatomical entity in independent continuant", - "abnormal mouth", - "Dental malocclusion", - "perception behavior by means", - "autopodial extension", + "subdivision of tube", "Abnormal oral morphology", - "set of upper jaw teeth", + "Abnormality of multiple cell lineages in the bone marrow", "Abnormality of the dentition", - "anatomical conduit", - "Abnormality of globe size", + "Abnormal number of teeth", + "myeloid cell", + "aplastic secondary dentition", + "abnormally decreased number of anatomical entity in the independent continuant", + "growth", "subdivision of digestive tract", - "abnormal digestive system", - "Long eyelashes", - "abnormal face", - "abnormal size of eyeball of camera-type eye", - "lip", - "Microphthalmia", - "Abnormality of metabolism/homeostasis", - "decreased width of the anatomical entity in independent continuant", - "abnormal mouth morphology", - "abnormal eyelash morphology", - "Abnormality of the palpebral fissures", - "abnormal size of palpebral fissure", - "head or neck skin", - "abnormal ocular adnexa", - "Neoplasm by anatomical site", - "Abnormality of the ocular adnexa", - "deviation of manual digit 1", - "decreased length of palpebral fissure", - "anatomical line between pupils", - "ocular adnexa", - "Abnormality of dental morphology", - "Abnormal internal genitalia", - "decreased width of the palpebral fissure", - "bone of appendage girdle complex", - "Narrow palpebral fissure", - "ecto-epithelium", - "Blepharophimosis", - "visual system", - "obsolete cellular aromatic compound metabolic process", - "immaterial entity", - "eye", - "orbital region", - "skeleton of upper jaw", - "Abnormality of globe location", - "biological_process", - "subdivision of skeleton", - "protein-containing material entity", - "increased size of the anatomical entity in independent continuant", - "Abnormality of head or neck", - "Abnormal eye morphology", - "anatomical line", - "abnormal eyeball of camera-type eye", - "abnormal face morphology", - "abnormal nasal cartilage morphology", - "upper jaw region", - "nasal cartilage", - "increased length of the anatomical entity", - "eyeball of camera-type eye", - "increased anatomical entity length in independent continuant", - "simple eye", - "blood cell", - "erythroid lineage cell", - "behavior", - "Abnormality of speech or vocalization", - "central nervous system", - "Language impairment", - "Abnormal skeletal morphology", - "external soft tissue zone", - "decreased biological_process", - "abnormal connective tissue", - "anatomical entity hypoplasia", + "delayed biological_process", + "Growth delay", + "abnormal biological_process", + "programmed DNA elimination by chromosome breakage", + "abnormal orbital region", + "Abnormal localization of kidney", + "face", + "Growth abnormality", + "delayed growth", + "abnormal size of anatomical entity", + "Decreased head circumference", + "cranial skeletal system", + "Abnormality of the genitourinary system", + "forebrain", + "abnormal forebrain morphology", + "Eukaryota", + "Eumetazoa", + "abnormal skull morphology", "Abnormality of the mouth", - "nasal cartilage hypoplasia", - "Abnormality of connective tissue", - "cartilage element", - "Neurodevelopmental delay", - "decreased size of the anatomical entity in the independent continuant", - "Abnormal morphology of the nasal alae", - "tube", - "abnormal digestive system morphology", - "decreased length of anatomical entity", - "abnormal nose morphology", - "jaw region", - "neural crest-derived structure", - "Abnormal cellular phenotype", - "Abnormality of the orbital region", - "entire sense organ system", - "abnormal hairline", - "abnormal cellular process", - "olfactory organ", - "Abnormal cartilage morphology", - "abnormal nose", - "abnormal dentition", - "camera-type eye", - "Underdeveloped nasal alae", + "abnormal size of skull", + "abnormal telencephalon morphology", + "dorsal region element", + "Abnormality of skull size", + "Abnormal oral cavity morphology", + "abnormal head morphology", + "tooth-like structure", + "Abnormality of head or neck", + "body proper", + "regional part of brain", + "aplasia or hypoplasia of telencephalon", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal craniocervical region morphology", + "kidney", + "regional part of nervous system", + "visual system", + "abnormal anatomical entity morphology in the brain", + "Abnormal skull morphology", + "abnormal kidney morphology", + "main body axis", + "subdivision of organism along main body axis", + "multi-tissue structure", + "Abnormality of the musculoskeletal system", + "cellular organisms", + "abnormal digit", + "bodily fluid", + "aplasia or hypoplasia of anatomical entity", + "Aplasia/hypoplasia involving the skeleton", "anatomical entity", - "ala of nose", - "manual digit 1 plus metapodial segment", - "telencephalon", - "Abnormal nasal cartilage morphology", - "abnormal external nose morphology", - "abnormal anatomical entity length", - "Abnormal nasal morphology", - "skeletal tissue", - "connective tissue", + "Aplasia/hypoplasia involving bones of the upper limbs", + "bone marrow cell", + "system", + "aplasia or hypoplasia of manual digit 1", + "Abnormality of limbs", + "regulation of cellular metabolic process", + "regulation of metabolic process", + "Abnormality of limb bone morphology", + "abnormal brain ventricle/choroid plexus morphology", "brain", - "head connective tissue", - "limb", - "lateral structure", - "anatomical entity hypoplasia in independent continuant", - "Abnormality of the nose", - "abnormal eyelid morphology", - "Abnormal nasal bridge morphology", - "increased size of the anatomical entity", - "abnormal breast", - "abnormal skin of body", - "palpebral fissure", - "abnormal ala of nose morphology", - "Abnormality of skin adnexa morphology", - "subdivision of head", + "abnormal anatomical entity morphology in the independent continuant", + "limb segment", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal mouth", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "limb endochondral element", + "genitourinary system", + "forelimb skeleton", + "abnormal number of anatomical enitites of type anatomical entity", + "limb bone", + "Abnormal finger morphology", + "abnormally formed cerebellum", + "absent anatomical entity in the limb", + "Abnormality of the skeletal system", + "abnormal metencephalon morphology", + "Abnormal forearm bone morphology", "abnormal digit morphology", - "cellular component organization or biogenesis", - "Phenotypic abnormality", - "Abnormality of the face", - "pilosebaceous unit", - "Abnormal eyelash morphology", - "Growth abnormality", - "Abnormal communication", - "non-connected functional system", - "abnormal biological_process", - "Abnormal cellular physiology", - "multi-tissue structure", - "skin of body", - "integumental system", - "epithelium", - "response to stimulus", - "abnormal limb", - "abnormal spatial pattern of anatomical entity", - "Abnormal cerebral morphology", + "Abnormal forebrain morphology", + "abnormal appendicular skeleton morphology", + "multi-limb segment region", + "endochondral element", + "digit", + "abnormal arm", + "absent anatomical entity in the forelimb", + "Tethered cord", + "excretory system", + "Abnormal curvature of the vertebral column", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "Abnormal cerebellum morphology", + "digit 1 plus metapodial segment", + "head", + "Abnormality of limb bone", + "Neurodevelopmental delay", + "pectoral appendage", + "absent anatomical entity", + "brain ventricle", + "aplastic manual digit 1", + "abnormal growth", + "independent continuant", + "organic cyclic compound metabolic process", + "segment of autopod", + "postcranial axial skeletal system", + "paired limb/fin skeleton", + "Abnormal cerebrospinal fluid morphology", + "Abnormal thumb morphology", + "phenotype by ontology source", + "skeletal system", + "root", + "appendage", + "tube", + "abnormal manual digit 1 morphology", "organ subunit", - "paired limb/fin segment", - "Abnormality of the integument", - "Aplasia/Hypoplasia affecting the eye", + "Cognitive impairment", "anatomical space", - "oral cavity", - "system", - "Abnormal forebrain morphology", - "abnormal spatial pattern of strand of hair", - "Sparse hair", - "abnormality of anatomical entity physiology", - "cutaneous appendage", - "integument", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormal lip morphology", - "chest", + "paired limb/fin", + "digestive system", + "upper limb segment", + "appendicular skeleton", + "abnormal anatomical entity morphology in the manus", + "manual digitopodium region", + "abnormal forelimb morphology", + "Aplasia/Hypoplasia affecting the eye", + "abnormal hematopoietic system morphology", + "abnormal dentition", + "Abnormal nervous system physiology", + "subdivision of trunk", + "absent manual digit", + "abnormal phenotype by ontology source", + "cerebrospinal fluid", + "Abnormal cell morphology", + "phenotype", + "nucleobase-containing compound metabolic process", + "abnormal hindbrain morphology", + "absent digit", + "Abnormality of the eye", + "abnormal upper urinary tract", + "mouth", + "musculoskeletal system", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "Abnormal eye morphology", + "manual digit", + "Abnormal morphology of the radius", + "Neurodevelopmental abnormality", + "subdivision of organism along appendicular axis", + "Abnormality of mental function", + "organic substance metabolic process", + "Abnormal cellular physiology", + "Pelvic kidney", + "abnormality of nervous system physiology", + "skeleton of manus", + "lateral structure", "digestive tract", - "skin epidermis", - "abnormal integument", - "axial skeletal system", - "outer epithelium", - "Growth delay", - "abnormal location of eyeball of camera-type eye", - "abnormal skin epidermis morphology", + "process", "hematopoietic system", - "abnormal forebrain morphology", - "abnormal pilosebaceous unit morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "axial skeleton plus cranial skeleton", - "Abnormal hair quantity", - "abnormal response to stimulus", - "abnormal cartilage element morphology", - "anatomical entity hypoplasia in face", - "abnormal skin of body morphology", - "abnormal strand of hair", - "naris", - "female reproductive system", - "integumentary projection", - "Abnormality of the musculoskeletal system", - "abnormal size of skull", - "abnormal number of anatomical enitites of type strand of hair", - "anatomical projection", - "surface structure", - "Abnormal upper lip morphology", - "nervous system process", - "body proper", - "Deviation of the thumb", + "multicellular organism", + "absent anatomical entity in the multicellular organism", + "agenesis of anatomical entity", + "abnormal face", + "autopodial extension", + "Bone marrow hypocellularity", "skeletal element", - "Abnormality of mental function", - "Abnormality of the head", - "Aplasia/Hypoplasia of the cerebrum", - "endochondral element", - "Abnormality of the scalp hair", - "immaterial anatomical entity", - "programmed DNA elimination by chromosome breakage", - "organism subdivision", + "zeugopod", + "negative regulation of gene expression", + "Phenotypic abnormality", + "Abnormality of the hand", + "Abnormal appendicular skeleton morphology", + "Delayed ability to walk", + "material entity", + "abnormal cerebellum morphology", "skeleton", - "aplasia or hypoplasia of eyeball of camera-type eye", + "nervous system process", + "abnormal number of anatomical enitites of type secondary dentition", + "system process", + "anatomical collection", + "All", + "Abnormal cerebral ventricle morphology", + "Abnormal upper limb bone morphology", + "Abnormal hindbrain morphology", + "renal system", + "nervous system", + "abnormal limb bone morphology", + "cellular process", "Abnormal digit morphology", - "Abnormality of skull size", - "abnormal female reproductive system morphology", - "genitourinary system", - "Abnormal nervous system morphology", - "protein-containing complex organization", - "abnormal genitourinary system", - "abnormal axial skeleton plus cranial skeleton morphology", - "organ", - "protein-DNA complex organization", - "Abnormality of body weight", - "abnormal telencephalon morphology", - "obsolete cellular nitrogen compound metabolic process", - "Abnormality of the hand", - "subdivision of organism along main body axis", - "Delayed speech and language development", - "skull", - "facial skeleton", + "decreased size of the anatomical entity", + "cognition", + "ventricular system of brain", + "anatomical structure", + "abnormal manus", + "abnormally increased number of brain ventricle in the independent continuant", "organism", - "face", - "Microcephaly", - "abnormal craniocervical region", - "appendicular skeletal system", - "abnormal cellular component organization", - "cranial skeletal system", - "skin of eyelid", - "abnormality of nervous system physiology", - "anterior region of body", - "abnormal palpebral fissure", - "Abnormal reproductive system morphology", - "Morphological central nervous system abnormality", - "cartilage tissue", - "Eukaryota", - "forebrain", - "DNA metabolic process", - "morphological feature", - "obsolete cell", - "Epicanthus", - "deviation of anatomical entity", - "Ovarian carcinoma", - "occurrent", + "autopod region", + "biological_process", + "Finger aplasia", + "entire sense organ system", + "continuant", + "manual digit 1 plus metapodial segment", + "obsolete cellular aromatic compound metabolic process", + "multicellular organismal process", "abnormal skeletal system morphology", - "anatomical collection", - "abnormal skull morphology", - "Anteverted nares", - "regional part of brain", - "digit 1", - "abnormal head", - "regional part of nervous system", - "anatomical cavity", - "appendicular skeleton", - "prominent upper lip", - "Abnormal axial skeleton morphology", - "abnormal size of anatomical entity", - "abnormal behavior process", - "abnormal external naris", - "Tooth malposition", - "integumentary adnexa", - "abnormal organelle organization", - "abnormal head morphology", - "head", - "process", - "organ system subdivision", - "Neurodevelopmental abnormality", - "Abnormal skull morphology", - "chromatin organization", - "sensory system", + "protein-containing material entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "organ part", + "forelimb endochondral element", + "multicellular anatomical structure", + "Scoliosis", + "forelimb zeugopod", + "abnormal nervous system", + "manual digit 1 or 5", "Neoplasm", - "system process", - "skeletal system", - "abnormal autopod region morphology", - "increased length of the eyelash", - "ectoderm-derived structure", - "abnormal ovary", - "multi organ part structure", - "structure with developmental contribution from neural crest", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", + "upper urinary tract", + "Anal atresia", + "digit plus metapodial segment", + "skeleton of limb", + "material anatomical entity", + "segmental subdivision of hindbrain", + "brain ventricle/choroid plexus", + "anatomical system", + "quality", + "abnormal manus morphology", + "pectoral appendage skeleton", + "manual digit plus metapodial segment", + "abnormal limb long bone morphology", + "radius endochondral element", + "regulation of cellular biosynthetic process", "biological regulation", - "main body axis", - "cellular organisms", - "abnormal forelimb morphology", - "Genital neoplasm", - "decreased width of the anatomical entity", - "abnormal craniocervical region morphology", - "paired limb/fin skeleton", - "postcranial axial skeletal system", - "All", - "segment of autopod", - "Eumetazoa", - "phenotype", - "Abnormal hair morphology", - "phenotype by ontology source", - "cell", - "abnormal integumentary adnexa morphology", - "aplasia or hypoplasia of telencephalon", - "abnormal brain morphology", + "Abnormality of globe size", + "Intellectual disability", + "abnormal digestive system morphology", + "bone marrow", + "acropodium region", + "Aplasia/hypoplasia of the extremities", "forelimb", - "abnormal chromatin organization", - "abnormal DNA metabolic process", - "Abnormal scalp morphology", - "internal female genitalia", - "metabolic process", - "cellular process", - "Prominent nasal bridge", - "Abnormality of the female genitalia", - "abnormal primary metabolic process", - "abnormal nitrogen compound metabolic process", - "Abnormal thumb morphology", - "regulation of biological process", - "Abnormality of brain morphology", - "abnormal programmed DNA elimination by chromosome breakage", - "Abnormal external nose morphology", + "Abnormal skeletal morphology", + "aplasia or hypoplasia of manual digit", + "digit 1", + "obsolete heterocycle metabolic process", + "erythroid lineage cell", + "Abnormal axial skeleton morphology", + "postcranial axial skeleton", + "bone of free limb or fin", + "abnormal autopod region morphology", + "Absent thumb", + "anterior region of body", + "aplastic anatomical entity", + "autopodial skeleton", + "bone element", + "sense organ", + "abnormal limb bone", + "Abnormal nervous system morphology", + "abnormal immune system morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "manual digit 1", + "Abnormality of metabolism/homeostasis", + "abnormal anus morphology", + "organism subdivision", + "occurrent", + "organ", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "bone of pectoral complex", "entity", - "Abnormal facial shape", - "acropodium region", - "abnormal cellular metabolic process", - "abnormality of multicellular organism height", - "Aplasia/Hypoplasia involving the nose", + "subdivision of skeletal system", + "Delayed gross motor development", + "subdivision of skeleton", + "endochondral bone", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal head", + "arm", + "Abnormal myeloid cell morphology", + "digit 1 or 5", + "bone cell", + "Aplasia/Hypoplasia of the thumb", + "regulation of biosynthetic process", + "absent anatomical entity in the independent continuant", + "Neoplasm by anatomical site", + "cell", + "limb", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "trunk region element", + "pectoral complex", + "eye", "Opisthokonta", - "regulation of metabolic process", - "non-material anatomical boundary", + "paired limb/fin segment", + "appendicular skeletal system", + "skeleton of pectoral complex", + "limb skeleton subdivision", + "abnormal forelimb zeugopod bone", + "abnormal manual digit morphology in the independent continuant", + "manus", + "abnormal limb", "Abnormality of digestive system morphology", - "behavior process", - "negative regulation of biological process", - "macromolecule metabolic process", - "prominent nasal bridge", - "obsolete heterocycle metabolic process", - "quality", - "aplasia or hypoplasia of anatomical entity", - "abnormal orbital region", - "orifice", - "regulation of cellular metabolic process", - "subdivision of skeletal system", - "sense organ", - "abnormal postcranial axial skeleton morphology", - "deviation of digit towards the middle", - "Abnormal eyelid morphology", - "hematopoietic cell", - "Decreased head circumference", - "Abnormal erythrocyte morphology", - "nucleic acid metabolic process", - "organelle organization", - "ovary", - "abnormal phenotype by ontology source", - "Gonadal neoplasm", - "regulation of biosynthetic process", - "decreased qualitatively growth", - "Abnormality of the eye", - "abnormal ocular adnexa morphology", - "strand of hair", - "internal genitalia", - "programmed DNA elimination", + "Microphthalmia", "abnormal skeletal system", - "cellular metabolic process", - "limb segment", - "abnormal anatomical entity topology in independent continuant", - "negative regulation of gene expression", - "Abnormal oral cavity morphology", - "Abnormal ocular adnexa morphology", - "Abnormal size of the palpebral fissures", - "postcranial axial skeleton", - "anatomical structure", - "Chromosome breakage", - "digit 1 or 5", - "Intellectual disability", - "negative regulation of metabolic process", - "abnormal camera-type eye morphology", - "decreased size of the anatomical entity", - "musculoskeletal system", - "multicellular anatomical structure", - "craniocervical region", - "female organism", - "cognition", - "regulation of cellular process", - "Ataxia", - "nucleobase-containing compound metabolic process", - "Metazoa", - "Cognitive impairment", - "abnormal behavior", - "abnormal nervous system", + "macromolecule metabolic process", + "appendage girdle complex", + "Localized skin lesion", + "immaterial entity", + "Abnormal hand morphology", + "abnormal limb morphology", + "forelimb zeugopod skeleton", + "mesoderm-derived structure", + "cerebellum", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "abnormal closing of the anatomical entity", + "Hydrocephalus", + "malformed anatomical entity", + "Morphological central nervous system abnormality", + "cavitated compound organ", + "abnormal brain morphology", + "bone of appendage girdle complex", + "anatomical wall", + "organ component layer", + "organism substance", + "Microcephaly", + "abnormal forelimb zeugopod morphology", + "central nervous system", + "ventricular system of central nervous system", + "abnormal anus", + "Chiari malformation", + "anatomical conduit", + "Abnormality of the head", + "abnormally increased number of anatomical entity", + "Abnormality of the urinary system", + "transudate", + "forelimb bone", + "skull", + "abnormal cerebrospinal fluid morphology", + "abnormal brain ventricle morphology", + "abnormally formed anatomical entity in independent continuant", + "oral cavity", + "dysgenesis of the radius bone", + "Abnormality of chromosome stability", + "abnormal kidney", "abnormal central nervous system morphology", - "root", - "Abnormality of the nervous system", - "Abnormal nervous system physiology", - "abnormality of anatomical entity mass", - "bone element", - "abnormal cell", - "Upslanted palpebral fissure", - "disconnected anatomical group", - "abnormal cartilage tissue morphology", - "female reproductive organ", - "Aplasia/Hypoplasia involving the central nervous system", - "mouth", - "Abnormality of the digestive system", - "Atypical behavior", - "abnormal skin of head morphology", - "organ part", - "abnormal internal genitalia", + "craniocervical region", + "abnormal long bone morphology", + "abnormal cell morphology", + "abnormal nervous system morphology", + "Tooth agenesis", + "Abnormal cerebral morphology", "specifically dependent continuant", - "Low anterior hairline", - "eyelash", "abnormal anatomical entity morphology", - "breast", - "primary metabolic process", - "cellular component organization", - "Abnormality of the ovary", - "manual digit 1 or 5", - "abnormal reproductive system", - "reproductive structure", - "negative regulation of cellular process", - "nervous system", - "material entity", - "changed biological_process rate", - "abnormal metabolic process", - "Decreased anatomical entity mass", - "Abnormality of skin morphology", - "multicellular organismal process", - "material anatomical entity", - "abnormal skin of face morphology", - "organic substance metabolic process", - "negative regulation of macromolecule metabolic process", - "abnormal upper lip morphology", - "increased length of the anatomical line between pupils", - "abnormal nervous system morphology", - "reproductive system", - "nose", - "deviation of manual digit", - "external integument structure", - "obsolete nitrogen compound metabolic process", - "continuant", - "regulation of macromolecule metabolic process", - "segment of manus", - "abnormal anatomical entity morphology in the independent continuant", - "eyelid", - "Abnormality of upper lip vermillion", - "independent continuant", - "increased size of the calcareous tooth", - "negative regulation of cellular metabolic process", - "skin of face", - "appendage girdle complex", - "decreased size of the eyeball of camera-type eye", - "Ovarian neoplasm", - "digit", - "Abnormality of the skeletal system", - "Abnormality of the skin", - "negative regulation of macromolecule biosynthetic process", - "Abnormality of the genitourinary system", - "Abnormal hair pattern", - "negative regulation of cellular biosynthetic process", - "Hypertelorism", - "anatomical system", - "organic cyclic compound metabolic process", - "Clinodactyly", - "Neoplasm of the genitourinary tract", - "abnormal anatomical entity morphology in the brain", - "abnormal internal female genitalia morphology", - "abnormal reproductive system morphology", - "negative regulation of biosynthetic process", - "regulation of cellular biosynthetic process", - "abnormal oral cavity morphology", - "reproductive organ", - "Short palpebral fissure", - "abnormal location of anatomical entity", - "Abnormal morphology of female internal genitalia", - "paired limb/fin", - "abnormal lip morphology", - "Abnormality of the hairline", + "arm bone", + "ventricle of nervous system", + "axial skeletal system", + "Radial dysplasia", + "Abnormal long bone morphology", + "abnormal radius bone morphology", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "long bone", + "abnormal DNA metabolic process", + "blood cell", + "abnormal manual digit morphology in the manus", + "radius bone", + "forelimb long bone", + "obsolete cell", + "compound organ", + "zeugopodial skeleton", + "limb long bone", + "dysgenesis of the anatomical entity", + "subdivision of head", + "Abnormality of brain morphology", + "forelimb zeugopod bone", + "metencephalon", + "abnormal digestive system", "abnormal anatomical entity", - "gonad", - "external nose", - "increased length of the epicanthal fold", - "abnormal hematopoietic cell morphology", - "abnormal limb morphology", - "Coarse facial features", - "regulation of gene expression", - "increased length of the strand of hair", - "abnormal female reproductive organ morphology", - "abnormal female reproductive system", - "upper eyelid", - "decreased growth", + "Abnormal forearm morphology", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "trunk", + "Abnormality of the vertebral column", "tissue", - "multicellular organism", - "Abnormality of the genital system", + "abnormal axial skeleton plus cranial skeleton morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal oral cavity morphology", + "telencephalon", + "vertebral column", + "Abnormal bone structure", + "abnormal vertebral column", + "erythrocyte", + "organ system subdivision", + "Abnormality of the anus", + "regulation of macromolecule metabolic process", + "Abnormality of the digestive system", + "anus", + "protein-DNA complex organization", + "Abnormal anus morphology", + "DNA metabolic process", + "orifice", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "immaterial anatomical entity", + "anus atresia", + "sensory system", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Aplasia/Hypoplasia of the cerebrum", + "Chiari type I malformation", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "Metazoa", ], - "has_phenotype_count": 30, + "has_phenotype_count": 18, "highlight": None, "score": None, }, diff --git a/backend/tests/fixtures/search_response.py b/backend/tests/fixtures/search_response.py index 2a380a054..62410403e 100644 --- a/backend/tests/fixtures/search_response.py +++ b/backend/tests/fixtures/search_response.py @@ -5,7 +5,7 @@ def search_response(): return { "responseHeader": { - "QTime": 3, + "QTime": 31, "params": { "mm": "100%", "q": "fanconi", @@ -21,7 +21,7 @@ def search_response(): }, }, "response": { - "num_found": 117, + "num_found": 118, "start": 0, "docs": [ { @@ -58,40 +58,46 @@ def search_response(): ], "namespace": "MONDO", "has_phenotype": [ - "HP:0002863", + "HP:0010469", + "HP:0000377", "HP:0002575", "HP:0000483", + "HP:0000238", "HP:0001249", "HP:0100587", + "HP:0100026", "HP:0040071", + "HP:0012639", + "HP:0008053", "HP:0006824", "HP:0005344", "HP:0002414", - "HP:0001199", + "HP:0002245", + "HP:0002023", + "HP:0001824", + "HP:0001646", + "HP:0000582", "HP:0000518", "HP:0000508", - "HP:0000010", + "HP:0000453", + "HP:0000047", + "HP:0007874", + "HP:0002650", "HP:0000252", - "HP:0001000", - "HP:0010469", - "HP:0000377", + "HP:0001882", + "HP:0002863", "HP:0002119", + "HP:0001510", "HP:0001392", "HP:0000864", "HP:0000316", - "HP:0000238", "HP:0000027", - "HP:0001562", - "HP:0001510", "HP:0100867", "HP:0100760", "HP:0100542", - "HP:0100026", - "HP:0012639", "HP:0012041", "HP:0010293", "HP:0008678", - "HP:0008053", "HP:0007565", "HP:0006265", "HP:0006101", @@ -101,25 +107,22 @@ def search_response(): "HP:0002827", "HP:0002823", "HP:0002251", - "HP:0002245", - "HP:0002023", "HP:0002007", - "HP:0001824", "HP:0001770", "HP:0001763", "HP:0001760", "HP:0001679", - "HP:0001646", "HP:0001643", "HP:0001639", "HP:0001636", "HP:0001631", + "HP:0001562", "HP:0001537", "HP:0001511", "HP:0001347", + "HP:0001199", "HP:0000813", "HP:0000639", - "HP:0000582", "HP:0000568", "HP:0000520", "HP:0000505", @@ -127,7 +130,6 @@ def search_response(): "HP:0000492", "HP:0000486", "HP:0000478", - "HP:0000453", "HP:0000365", "HP:0000364", "HP:0000347", @@ -141,14 +143,12 @@ def search_response(): "HP:0000130", "HP:0000083", "HP:0000072", - "HP:0000047", "HP:0000035", "HP:0000028", + "HP:0000010", "HP:0012745", "HP:0012210", - "HP:0007874", "HP:0002664", - "HP:0002650", "HP:0001671", "HP:0001263", "HP:0000079", @@ -159,47 +159,53 @@ def search_response(): "HP:0003220", "HP:0002817", "HP:0001903", - "HP:0001882", "HP:0001873", "HP:0001871", "HP:0001172", "HP:0001053", + "HP:0001000", ], "has_phenotype_label": [ - "Myelodysplasia", + "Absent testis", + "Abnormal pinna morphology", "Tracheoesophageal fistula", "Astigmatism", + "Hydrocephalus", "Intellectual disability", "Abnormal preputium morphology", + "Arteriovenous malformation", "Abnormal morphology of ulna", + "Abnormal nervous system morphology", + "Aplasia/Hypoplasia of the iris", "Cranial nerve paralysis", "Abnormal carotid artery morphology", "Spina bifida", - "Triphalangeal thumb", + "Meckel diverticulum", + "Anal atresia", + "Weight loss", + "Abnormal aortic valve morphology", + "Upslanted palpebral fissure", "Cataract", "Ptosis", - "Recurrent urinary tract infections", + "Choanal atresia", + "Hypospadias", + "Almond-shaped palpebral fissure", + "Scoliosis", "Microcephaly", - "Abnormality of skin pigmentation", - "Absent testis", - "Abnormal pinna morphology", + "Leukopenia", + "Myelodysplasia", "Ventriculomegaly", + "Growth delay", "Abnormality of the liver", "Abnormality of the hypothalamus-pituitary axis", "Hypertelorism", - "Hydrocephalus", "Azoospermia", - "Oligohydramnios", - "Growth delay", "Duodenal stenosis", "Clubbing of toes", "Abnormal localization of kidney", - "Arteriovenous malformation", - "Abnormal nervous system morphology", "Decreased fertility in males", "Aplasia/Hypoplasia of the uvula", "Renal hypoplasia/aplasia", - "Aplasia/Hypoplasia of the iris", "Multiple cafe-au-lait spots", "Aplasia/Hypoplasia of fingers", "Finger syndactyly", @@ -209,25 +215,22 @@ def search_response(): "Hip dislocation", "Abnormality of femur morphology", "Aganglionic megacolon", - "Meckel diverticulum", - "Anal atresia", "Frontal bossing", - "Weight loss", "Toe syndactyly", "Pes planus", "Abnormal foot morphology", "Abnormal aortic morphology", - "Abnormal aortic valve morphology", "Patent ductus arteriosus", "Hypertrophic cardiomyopathy", "Tetralogy of Fallot", "Atrial septal defect", + "Oligohydramnios", "Umbilical hernia", "Intrauterine growth retardation", "Hyperreflexia", + "Triphalangeal thumb", "Bicornuate uterus", "Nystagmus", - "Upslanted palpebral fissure", "Microphthalmia", "Proptosis", "Visual impairment", @@ -235,7 +238,6 @@ def search_response(): "Abnormal eyelid morphology", "Strabismus", "Abnormality of the eye", - "Choanal atresia", "Hearing impairment", "Hearing abnormality", "Micrognathia", @@ -249,14 +251,12 @@ def search_response(): "Abnormality of the uterus", "Renal insufficiency", "Hydroureter", - "Hypospadias", "Abnormal testis morphology", "Cryptorchidism", + "Recurrent urinary tract infections", "Short palpebral fissure", "Abnormal renal morphology", - "Almond-shaped palpebral fissure", "Neoplasm", - "Scoliosis", "Abnormal cardiac septum morphology", "Global developmental delay", "Abnormality of the urinary system", @@ -267,10928 +267,8081 @@ def search_response(): "Abnormality of chromosome stability", "Abnormality of the upper limb", "Anemia", - "Leukopenia", "Thrombocytopenia", "Abnormality of blood and blood-forming tissues", "Abnormal thumb morphology", "Hypopigmented skin patches", + "Abnormality of skin pigmentation", ], "has_phenotype_count": 106, "has_phenotype_closure": [ - "UPHENO:0077872", - "UPHENO:0077874", - "HP:0001053", "HP:0001010", "UPHENO:0085070", - "CL:0000225", - "UPHENO:0084987", + "CL:0000458", + "HP:0001873", + "UPHENO:0085344", "UPHENO:0085189", - "HP:0001872", - "UPHENO:0086005", - "HP:0011873", + "UPHENO:0084987", + "UPHENO:0086049", + "HP:0011875", "CL:0000233", - "UPHENO:0088337", - "UBERON:0000178", - "CL:0002242", - "UPHENO:0088338", - "HP:0032251", - "UPHENO:0063722", - "UPHENO:0035147", - "GO:0005623", - "GO:0034101", - "GO:0048468", - "UPHENO:0085118", + "CL:0000457", + "UPHENO:0086173", + "HP:0001939", + "HP:0003220", + "GO:0008152", + "HP:0000002", + "UPHENO:0080351", + "UPHENO:0075159", + "GO:0030218", "HP:0010972", + "GO:0030099", + "UPHENO:0077892", + "GO:0030097", + "HP:0001877", "HP:0025461", - "GO:0048869", + "UPHENO:0084928", + "CL:0000329", + "UPHENO:0088162", "GO:0048871", - "HP:0012130", - "GO:0030099", + "CL:0000764", + "GO:0048872", + "UPHENO:0088170", + "GO:0048869", + "GO:0002376", + "GO:0009987", + "GO:0042592", + "HP:0005522", "HP:0020047", - "HP:0002818", - "CL:0000738", - "UBERON:0001423", + "CL:0000232", + "UBERON:0015001", "UPHENO:0080187", - "HP:0001263", - "HP:0010674", - "HP:0002650", - "UPHENO:0046753", + "HP:0002818", "UPHENO:0075198", - "UPHENO:0081755", - "UPHENO:0053580", - "HP:0100627", - "HP:0010936", - "UBERON:0035651", + "HP:0012745", + "HP:0000010", + "UPHENO:0002263", + "UPHENO:0053644", + "HP:0000028", + "UPHENO:0002806", + "UBERON:0000056", + "UBERON:0006555", "UBERON:0036295", - "UPHENO:0076780", - "HP:0000072", - "HP:0007874", - "HP:0000069", + "HP:0025633", + "UPHENO:0002442", "UPHENO:0086132", - "UPHENO:0086128", - "CL:0000255", "HP:0000083", + "UPHENO:0002411", + "HP:0012211", "HP:0000135", - "HP:0000175", - "UPHENO:0033635", + "HP:5201015", + "UPHENO:0081423", + "UPHENO:0034110", "UPHENO:0063513", "HP:0000268", - "UPHENO:0075148", - "UPHENO:0088170", - "UBERON:0012180", + "UPHENO:0001208", "UBERON:0013766", + "UPHENO:0072402", + "UBERON:0001084", "UBERON:1000021", - "HP:0000286", - "UPHENO:0085344", - "UPHENO:0075159", + "UPHENO:0087928", + "UPHENO:0087058", + "HP:0000324", "UPHENO:0084734", - "UPHENO:0020809", - "UPHENO:0041151", + "HP:0001999", + "HP:0001263", + "UPHENO:0005982", + "UPHENO:0041084", + "UPHENO:0041083", "UPHENO:0076704", - "UPHENO:0081314", - "UBERON:0001710", - "UPHENO:0081786", - "HP:0001882", "UBERON:0004768", - "UPHENO:0084457", - "UPHENO:0083646", + "UPHENO:0069249", + "UPHENO:0081786", + "HP:0009116", "UBERON:0001708", "UBERON:0011156", + "UBERON:0003278", + "UBERON:0001684", + "UPHENO:0084457", + "HP:0000286", + "HP:0009118", + "UPHENO:0088116", + "UBERON:0001710", + "UPHENO:0083646", + "UPHENO:0081314", + "HP:0004322", "HP:0030791", + "CL:0000081", + "UBERON:0012360", + "HP:0011873", + "UPHENO:0081788", + "UPHENO:0081141", + "HP:0000347", "UPHENO:0080087", - "UPHENO:0088116", - "UPHENO:0035025", - "HP:0000364", - "UPHENO:0052970", + "HP:0009122", + "HP:0000277", "GO:0050954", - "UPHENO:0052231", - "HP:0000453", - "UPHENO:0087894", - "UBERON:0004771", - "UBERON:0005725", - "UBERON:0000004", - "UPHENO:0087950", - "UPHENO:0003048", - "UBERON:0002268", - "HP:0001999", - "UPHENO:0021517", - "UPHENO:0063595", + "HP:0000365", + "UPHENO:0005518", + "UPHENO:0052970", "HP:0000486", - "GO:0007601", - "UPHENO:0063527", + "HP:0000549", + "GO:0050953", "UPHENO:0050236", + "GO:0034101", + "UPHENO:0050622", "UPHENO:0052164", - "GO:0050953", - "GO:0007600", - "HP:0000520", "UPHENO:0085881", + "HP:0000520", "HP:0000568", - "HP:0000582", - "HP:0001751", - "UPHENO:0078736", - "UPHENO:0076675", - "UPHENO:0080601", - "NBO:0000411", + "UPHENO:0075219", + "HP:0100887", + "HP:0007670", + "UPHENO:0079837", + "HP:0000359", "HP:0000496", - "HP:0000639", - "NBO:0000417", - "UPHENO:0079839", - "UPHENO:0041395", - "HP:0000008", + "UPHENO:0080602", + "UPHENO:0003044", + "UPHENO:0066972", + "UPHENO:0080581", + "HP:0011821", + "HP:0012547", + "HP:0031704", + "UPHENO:0079828", + "UPHENO:0002240", "UBERON:0003975", - "UPHENO:0041664", - "CL:0000457", + "HP:0000008", + "UPHENO:0041033", "HP:0000130", "UPHENO:0003053", - "HP:0031105", - "UPHENO:0005170", + "UBERON:0003100", + "HP:0002719", + "UPHENO:0076766", "HP:0010460", + "UPHENO:0005170", + "UBERON:0000993", "UBERON:0013515", - "UPHENO:0076766", - "UBERON:0003134", - "UPHENO:0087928", - "UBERON:0000995", - "UPHENO:0087974", - "UPHENO:0050606", - "GO:0050882", - "UPHENO:0049622", - "UPHENO:0041033", - "HP:0031826", + "UBERON:0012358", + "GO:0002262", + "UBERON:0003620", + "UBERON:0006048", + "UBERON:5006048", + "UBERON:0015025", + "HP:0001172", + "UBERON:0015024", + "UPHENO:0076724", + "UPHENO:0021800", + "UBERON:5102389", + "NBO:0000403", + "NBO:0000001", "NBO:0000389", - "UPHENO:0079833", + "GO:0050905", + "NBO:0000338", + "UPHENO:0041151", + "UPHENO:0078622", + "HP:0000708", + "HP:0001347", + "UPHENO:0049622", + "GO:0007610", + "UPHENO:0083263", + "UBERON:0004742", + "NBO:0000388", + "UPHENO:0050620", + "GO:0060004", + "UPHENO:0050613", + "UPHENO:0080585", + "GO:0050896", + "UPHENO:0050079", + "UPHENO:0050606", + "HP:0100022", + "UPHENO:0080393", + "UPHENO:0076794", + "HP:0001551", + "HP:0001537", + "UBERON:0003697", "HP:0004299", "UPHENO:0002712", - "UPHENO:0087123", - "HP:0010866", - "HP:0004298", "HP:0003549", - "UPHENO:0075684", - "UPHENO:0075843", - "HP:0001631", - "HP:0011994", - "UBERON:0002081", - "UPHENO:0015303", - "UPHENO:0086855", + "HP:0004298", + 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"UPHENO:0066927", - "UBERON:0000383", - "UPHENO:0076781", + "UPHENO:0024906", + "UPHENO:0077800", + "HP:0001637", "UBERON:0018260", - "UBERON:0002349", "UBERON:0005983", + "UBERON:0000383", + "UPHENO:0076781", "HP:0001638", - "UPHENO:0084928", - "UPHENO:0033603", - "UPHENO:0087309", - "HP:0011603", + "UBERON:0003513", + "HP:0001643", + "UBERON:0011695", + "UBERON:0003834", + "UBERON:0005985", "UBERON:0018674", "UPHENO:0087018", - "HP:0100887", + "UPHENO:0087309", + "UBERON:0004716", + "UPHENO:0015290", + "UBERON:0006876", "UBERON:0002201", - "UBERON:0005985", - "UPHENO:0087612", - "UBERON:0000948", - "UBERON:0035553", - "UPHENO:0086614", - "UPHENO:0087070", - "UBERON:0005956", - "UPHENO:0076743", - "UBERON:0005623", - "UBERON:0005337", - "UBERON:0004151", - "UBERON:0004145", - "UPHENO:0015319", - "UBERON:0015228", - "UBERON:0002084", - "UPHENO:0076810", - "UPHENO:0066972", + "UBERON:0003498", + "HP:0002692", "UBERON:0003519", - "UBERON:0013768", - "UBERON:0000947", + "UPHENO:0076809", 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"HP:0002031", + "HP:0001373", + "UBERON:0012476", + "UPHENO:0000543", + "UBERON:0002423", + "UBERON:0002365", + "UBERON:0002330", + "HP:0002012", + "UBERON:0015204", + "UPHENO:0080126", + "UBERON:0005172", + "UPHENO:0002803", + "HP:0000818", + "UPHENO:0084767", + "UBERON:0000916", + "UBERON:0002417", + "NBO:0000417", + "HP:0000924", + "UPHENO:0074572", + "UBERON:0006925", + "UBERON:0002368", "CL:0000408", - "UBERON:0006555", - "BFO:0000001", - "GO:0016331", - "CL:0000232", - "HP:0002623", - "UPHENO:0004508", - ], - "has_phenotype_closure_label": [ - "decreased biological_process in skin of body", - "decreased biological_process in independent continuant", - "abnormal platelet morphology", - "Abnormal platelet morphology", - "abnormally decreased number of myeloid cell", - "serotonin secreting cell", - "Thrombocytopenia", - "abnormally decreased number of platelet", - "blood", - "abnormally decreased number of cell in the independent continuant", - "haemolymphatic fluid", - "abnormally decreased number of leukocyte in the blood", - "motile cell", - "Leukopenia", - "Abnormal immune system morphology", - "Abnormal cellular immune system morphology", - "Abnormal leukocyte morphology", - "abnormally decreased number of anatomical entity", - "Abnormal leukocyte count", - "abnormal number of anatomical enitites of type leukocyte", - "metabolic process", - "Abnormal cellular physiology", - "decreased size of the multicellular organism", - "Short stature", - "decreased height of the multicellular organism", - "myeloid cell", - "myeloid cell homeostasis", - "oxygen accumulating cell", - "hematopoietic cell", - "cell differentiation", - "cell development", - "Pyridoxine-responsive sideroblastic anemia", - "myeloid cell differentiation", - "Anemia", - "abnormal erythroid lineage cell morphology", - "abnormal hematopoietic cell morphology", - "anucleate cell", - "Abnormal erythrocyte morphology", - "Aplasia/Hypoplasia of the radius", - "radius bone", - "Almond-shaped palpebral fissure", - "Abnormal shape of the palpebral fissure", - "abnormal size of palpebral fissure", - "Short palpebral fissure", - "abnormally localised testis", - "abnormally localised anatomical entity", - "Abnormality of the lower urinary tract", - "lower urinary tract", - "renal pelvis/ureter", - "abnormal ureter morphology", - "Abnormality of the ureter", - "ureter", - "Abnormal ureter morphology", - "aplasia or hypoplasia of radius bone", - "Abnormal renal physiology", - "Renal insufficiency", - "non-functional anatomical entity", - "Puberty and gonadal disorders", - "abnormal incomplete closing of the secondary palate", - "High palate", - "increased height of the secondary palate", - "increased size of the head", - "skin of head", - "Epicanthus", - "abnormal skin of face morphology", - "increased length of the epicanthal fold", - "head or neck skin", - "epicanthal fold", - "abnormal skin of head morphology", - "Facial asymmetry", - "sloped anatomical entity", - "abnormal shape of forehead", - "sloped forehead", - "abnormal facial skeleton morphology", - "abnormal shape of palpebral fissure", - "Aplasia/Hypoplasia of the mandible", - "abnormal jaw skeleton morphology", - "abnormal mandible morphology", - "homeostatic process", - "Abnormal mandible morphology", - "Abnormal jaw morphology", - "anatomical entity hypoplasia in face", - "jaw skeleton", - "Dolichocephaly", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "facial bone hypoplasia", - "aplasia or hypoplasia of mandible", - "dentary", - "mandible hypoplasia", - "bone of lower jaw", - "abnormal immune system morphology", - "decreased size of the mandible", - "Aplasia/Hypoplasia of facial bones", - "abnormal asymmetry of anatomical entity", - "decreased sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal radius bone morphology", - "Hearing abnormality", - "chemosensory system", - "abnormal nose morphology", - "abnormal asymmetry of face", - "internal naris atresia", - "abnormal number of anatomical enitites of type hematopoietic cell", - "naris", - "olfactory organ", - "abnormal nose", - "olfactory system", - "Abnormal nasal morphology", - "abnormal posterior nasal aperture morphology", - "Abnormality of the choanae", - "abnormal lower urinary tract", - "posterior nasal aperture atresia", - "Strabismus", - "Abnormality of vision", - "Hypopigmentation of the skin", - "sensory perception", - "visual perception", - "Visual impairment", - "abnormal urethra", - "abnormal sensory perception", - "sensory perception of light stimulus", - "decreased qualitatively visual perception", - "Proptosis", - "abnormal size of eyeball of camera-type eye", - "Microphthalmia", - "Abnormality of globe size", - "Abnormality of the palpebral fissures", - "Slanting of the palpebral fissure", - "abnormality of internal ear physiology", - "vestibulo-ocular reflex", - "Nystagmus", - "physiologic nystagmus", - "eye movement", - "abnormal eye movement", - "Functional abnormality of the inner ear", - "abnormal internal ear", - "abnormality of ear physiology", - "internal ear", - "female reproductive system", - "abnormal internal female genitalia morphology", - "Abnormality of metabolism/homeostasis", - "abnormal female reproductive organ morphology", - "shape uterus", - "Abnormality of the uterus", - "decreased qualitatively sensory perception of sound", - "subdivision of oviduct", - "bicornuate uterus", - "abnormal female reproductive system morphology", - "abnormal uterus", - "Bicornuate uterus", - "sensory perception of sound", - "female reproductive organ", - "uterus", - "female organism", - "skin of eyelid", - "bicornuate anatomical entity", - "internal female genitalia", - "decreased qualitatively pigmentation in independent continuant", - "abnormal behavior", - "neuromuscular process", - "voluntary musculoskeletal movement", - "abnormal response to external stimulus", - "response to external stimulus", - "Abnormal reflex", - "Abnormality of movement", - "voluntary movement behavior", - "body part movement", - "behavior process", - "reflex", - "abnormal voluntary movement behavior", - "decreased qualitatively biological_process in independent continuant", - "abnormal behavior process", - "decreased embryo development", - "Hypogonadism", - "abnormal umbilicus morphology", - "Abnormal umbilicus morphology", - "biogenic amine secreting cell", - "changed embryo development rate", - "abdominal wall", - "Hernia", - "connective tissue", - "abnormal incomplete closing of the abdominal wall", - "herniated anatomical entity", - "abnormal voluntary musculoskeletal movement", - "Abnormality of the abdominal wall", - "abnormal cardiac atrium morphology", - "cardiac atrium", - "abnormal cardiac atrium morphology in the independent continuant", - "interatrial septum", - "abnormal interatrial septum morphology", - "eukaryotic cell", - "Abnormal cardiac atrium morphology", - "Atrial septal defect", - "abnormally increased volume of anatomical entity", - "abnormal internal naris", - "hypertrophic cardiac ventricle", - "Overriding aorta", - "erythrocyte differentiation", - "Abdominal wall defect", - "Pulmonic stenosis", - "abnormal pulmonary valve morphology", - "aplasia or hypoplasia of skull", - "Abnormal cardiac septum morphology", - "Abnormal right ventricle morphology", - "cardiac septum", - "Abnormal facial skeleton morphology", - "right cardiac chamber", - "abnormal size of heart right ventricle", - "Abnormal ventriculoarterial connection", - "Abnormal ventricular septum morphology", - "abnormal cardiac septum morphology", - "Abnormal connection of the cardiac segments", - "Ventricular hypertrophy", - "hypertrophic heart right ventricle", - "abnormally decreased functionality of the anatomical entity", - "abnormally decreased number of leukocyte in the independent continuant", - "myocardium", - "abnormal myocardium morphology", - "abnormally decreased functionality of the myocardium", - "anatomical entity dysfunction in independent continuant", - "abnormal sensory perception of sound", - "Abnormal myocardium morphology", - "Patent ductus arteriosus", - "Abnormal male urethral meatus morphology", - "vasculature of trunk", - "heart blood vessel", - "embryonic cardiovascular system", - "Abnormal conjugate eye movement", - "Congenital malformation of the great arteries", - "conceptus", - "abnormal coronary vessel morphology", - "abnormal artery morphology in the independent continuant", - "abnormal incomplete closing of the ductus arteriosus", - "abnormal ductus arteriosus morphology", - "outflow tract", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal cardiac ventricle morphology in the heart", - "lower jaw region", - "abnormal uterus morphology", - "valve", - "semi-lunar valve", - "cardiac ventricle", - "outflow tract of ventricle", - "abnormal cardiac valve morphology in the heart", - "abnormal heart left ventricle morphology", - "glans", - "abnormal cardiac ventricle morphology", - "Abnormal aortic valve morphology", - "abnormal cardiac valve morphology in the independent continuant", - "outflow part of left ventricle", - "abnormal cardiac valve morphology", - "primary circulatory organ", - "Abnormal heart valve morphology", - "abnormal embryo development", - "abnormal abdominal wall", - "Abnormal cardiac ventricle morphology", - "thoracic cavity blood vessel", - "abnormal aorta morphology", - "Abnormal morphology of the great vessels", - "cellular developmental process", - "Abnormal aortic morphology", - "aortic system", - "flat anatomical entity in independent continuant", - "Increased head circumference", - "flat longitudinal arch of pes", - "flattened anatomical entity", - "flat anatomical entity", - "Pes planus", - "abnormally fused pedal digit and pedal digit", - "decreased multicellular organism mass", - "Weight loss", - "abnormality of anatomical entity mass", - "abnormality of multicellular organism mass", - "Decreased body weight", - "Decreased multicellular organism mass", - "decreased anatomical entity mass", - "frontal cortex", - "abnormal cerebral cortex morphology", - "prominent anatomical entity", - "cerebral hemisphere gray matter", - "forehead", - "prominent forehead", - "abnormally localised anatomical entity in independent continuant", - "Hypospadias", - "abnormal cranium morphology", - "abnormal shape of frontal cortex", - "cortex of cerebral lobe", - "abnormal neocortex morphology", - "dermal skeleton", - "primary subdivision of cranial skeletal system", - "cranium", - "central nervous system gray matter layer", - "dermal bone", - "non-functional kidney", - "pallium", - "Abnormal uterus morphology", - "central nervous system cell part cluster", - "dermal skeletal element", - "lobe of cerebral hemisphere", - "Abnormality of the forehead", - "cerebral hemisphere", - "great vessel of heart", - "Abnormal shape of the frontal region", - "Hypopigmented skin patches", - "neurocranium", - "dermatocranium", - "cranial bone", - "secretory cell", - "bone of craniocervical region", - "abnormal frontal cortex morphology", - "abnormal neurocranium morphology", - "heart layer", - "intramembranous bone", - "membrane bone", - "abnormal tetrapod frontal bone morphology", - "abnormal forehead", - "abnormal anus", - "Anal atresia", - "anus atresia", - "heart plus pericardium", - "Abnormality of the anus", - "Abnormal ileum morphology", - "abnormal ileum morphology", - "ganglion of peripheral nervous system", - "decreased pigmentation in independent continuant", - "neocortex", - "parasympathetic ganglion", - "decreased length of palpebral fissure", - "abnormal parasympathetic ganglion morphology", - "abnormal enteric ganglion morphology", - "involuntary movement behavior", - "abnormal enteric nervous system morphology", - "abnormal parasympathetic nervous system morphology", - "decreased height of the anatomical entity", - "Abnormality of the autonomic nervous system", - "abnormal autonomic nervous system", - "platelet", - "enteric ganglion", - "autonomic nervous system", - "abnormal ganglion of peripheral nervous system morphology", - "nucleate cell", - "Scoliosis", - "Abnormal peripheral nervous system ganglion morphology", - "abnormal autonomic nervous system morphology", - "Abnormality of femur morphology", - "hindlimb stylopod", - "abnormal hindlimb stylopod morphology", - "abnormal femur morphology", - "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "bone of hip region", - "pelvic girdle skeleton", - "articulation", - "Abnormality of the nose", - "orifice", - "zone of organ", - "Abnormal hip bone morphology", - "trunk bone", - "sensory perception of mechanical stimulus", - "hip", - "appendage girdle region", - "excretory tube", - "hip joint", - "zone of bone organ", - "girdle skeleton", - "Abnormality of lower limb joint", - "anatomical entity dislocation", - "girdle bone/zone", - "hip dislocation", - "Abnormal hip joint morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "skeletal joint", - "abnormal hindlimb joint", - "synovial joint", - "pelvic region element", - "pelvic region of trunk", - "abnormal skeletal joint morphology", - "abnormal joint of girdle morphology", - "Right ventricular hypertrophy", - "abnormal hip joint morphology", - "abnormal synovial joint of pelvic girdle morphology", - "Forearm undergrowth", - "decreased size of the anatomical entity in the independent continuant", - "heart", - "Aplasia/Hypoplasia of the ulna", - "decreased length of forelimb zeugopod bone", - "decreased length of anatomical entity", - "Abnormality of the urethra", - "forelimb zeugopod bone hypoplasia", - "ulna hypoplasia", - "decreased length of anatomical entity in independent continuant", - "interventricular septum", - "Upper limb undergrowth", - "decreased size of the anatomical entity", - "decreased length of long bone", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Lower extremity joint dislocation", - "Limb undergrowth", - "decreased size of the ulna", - "Hypoplasia of the ulna", - "aplasia or hypoplasia of ulna", - "bone element hypoplasia in independent continuant", - "vault of skull", - "abnormal spatial pattern of anatomical entity", - "aorta", - "manual digit 5", - "abnormality of kidney physiology", - "Hyperreflexia", - "anatomical entity atresia", - "enteric nervous system", - "Abnormal 5th finger morphology", - "Deviation of finger", - "Clinodactyly of the 5th finger", - "Deviation of the 5th finger", - "deviation of manual digit 5 towards the middle", - "Finger clinodactyly", - "deviation of anatomical entity towards the middle", - "deviation of anatomical entity", - "Decreased bone element mass density", - "Decreased anatomical entity mass density", - "ossification", - "Abnormality of bone mineral density", - "Syndactyly", - "Finger syndactyly", - "abnormally fused manual digit and manual digit", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "Aplasia/hypoplasia involving the skeleton", - "Aplasia/hypoplasia involving bones of the upper limbs", - "anatomical entity hypoplasia", - "Aplasia/hypoplasia involving bones of the hand", - "Aplasia/Hypoplasia of fingers", - "aplasia or hypoplasia of skeleton", - "Hypermelanotic macule", - "increased pigmentation in skin of body", - "increased pigmentation in independent continuant", - "increased qualitatively biological_process in independent continuant", - "Cafe-au-lait spot", - "deviation of manual digit 5", - "increased qualitatively biological_process", - "abnormally formed anatomical entity", - "Abnormal uvea morphology", - "abnormal iris morphology", - "Aplasia/Hypoplasia affecting the eye", - "joint of girdle", - "abnormal uvea morphology", - "anterior chamber of eyeball", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "chamber of eyeball", - "abnormal number of anatomical enitites of type platelet", - "uvea", - "Abnormal anterior chamber morphology", - "Abnormality iris morphology", - "Ocular anterior segment dysgenesis", - "abnormally formed anterior chamber of eyeball", - "iris", - "Renal hypoplasia/aplasia", - "zone of skin", - "abnormal palatine uvula morphology", - "Abnormal uvula morphology", - "midface", - "Abnormal oral cavity morphology", - "secondary palate", - "soft palate", - "anatomical cavity", - "Aplasia/Hypoplasia of the uvula", - "abnormal response to stimulus", - "morphological feature", - "abnormal blood cell", - "ganglion", - "abnormal pigmentation in independent continuant", - "abnormal anterior chamber of eyeball morphology", - "abnormal mouth", - "Abnormal soft palate morphology", - "abnormal size of multicellular organism", - "Abnormality of the abdominal organs", - "abnormal mouth morphology", - "Abnormality of the inner ear", - "abnormal vein morphology", - "Abnormal venous morphology", - "Cleft palate", - "abnormal anatomical entity morphology in the pelvic complex", - "Abnormality of the upper urinary tract", - "abnormal physiologic nystagmus", - "skeleton of pelvic complex", - "respiratory airway", - "kidney", - "oviduct", - "Abnormal localization of kidney", - "Sloping forehead", - "anterior uvea", - "abnormal kidney morphology", - "Abnormality of the cardiovascular system", - "hindlimb", - "Clubbing of toes", - "Orofacial cleft", - "Abnormal toe morphology", - "leukocyte", - "clavate anatomical entity", - "abnormal bone of pelvic complex morphology", - "abnormal skin of body", - "concave 3-D shape anatomical entity", - "posterior region of body", - "abnormal embryo morphology", - "abnormal upper urinary tract", - "Abnormal autonomic nervous system morphology", - "Abnormal midface morphology", - "abnormal pedal digit morphology", - "abdominal segment bone", - "3-D shape anatomical entity", - "longitudinal arch of pes", - "pedal digitopodium region", - "Cryptorchidism", - "synovial joint of pelvic girdle", - "pes", - "sensory system", - "pedal digit bone", - "Abnormal lower limb bone morphology", - "anatomical system", - "pedal digitopodium bone", - "primary subdivision of skull", - "Aplasia/Hypoplasia of the iris", - "pedal digit phalanx endochondral element", - "Irregular hyperpigmentation", - "hindlimb bone", - "hindlimb long bone", - "Global developmental delay", - "decreased size of the anatomical entity in the pectoral complex", - "leg", - "small intestine", - "Small intestinal stenosis", - "anatomical space", - "intestine", - "internal genitalia", - "pes bone", - "duodenum", - "Abnormal intestine morphology", - "frontal lobe", - "abnormal biological_process in independent continuant", - "ventricle of nervous system", - "pedal digit plus metapodial segment", - "Clinodactyly", - "growth", - "abnormal skull morphology", - "abnormal renal system morphology", - "hindlimb skeleton", - "Growth abnormality", - "delayed growth", - "Abnormal cardiovascular system physiology", - "hindlimb joint", - "cavitated compound organ", - "abnormal late embryo", - "abnormal ocular surface region morphology", - "abnormal hindlimb morphology", - "amniotic fluid", - "Abnormality of the amniotic fluid", - "Arteriovenous malformation", - "abnormal anus morphology", - "Abnormality of prenatal development or birth", - "shape forehead", - "abnormal soft palate morphology", - "Oligohydramnios", - "abnormally protruding eyeball of camera-type eye", - "cerebrospinal fluid", - "Aplasia/Hypoplasia affecting the uvea", - "Abnormal cerebrospinal fluid morphology", - "Abnormal erythroid lineage cell morphology", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "abnormal trachea morphology", - "upper digestive tract", - "abnormal cerebrospinal fluid morphology", - "immaterial entity", - "Toe syndactyly", - "trunk", - "pedal digit", - "Abnormality of globe location", - "musculature of body", - "ventricular system of brain", - "Hypertelorism", - "abnormal visual perception", - "increased length of the anatomical line between pupils", - "male germ cell", - "anatomical line", - "pelvic appendage", - "increased anatomical entity length in independent continuant", - "Cardiomyopathy", - "abnormal oral cavity morphology", - "abnormal location of anatomical entity", - "hypothalamus-pituitary axis", - "abnormal hypothalamus-pituitary axis", - "nervous system process", - "exocrine system", - "kinesthetic behavior", - "flattened anatomical entity in independent continuant", - "anatomical entity hypoplasia in independent continuant", - "blood vessel", - "hepatobiliary system", - "Intrauterine growth retardation", - "abdomen", - "liver", - "Abnormality of the endocrine system", - "abnormal brain ventricle morphology", - "Displacement of the urethral meatus", - "abnormal size of brain ventricle", - "Ventriculomegaly", - "Abnormal cerebral ventricle morphology", - "increased size of the anatomical entity", - "multi cell part structure", - "abnormality of internal male genitalia physiology", - "abnormal brain ventricle/choroid plexus morphology", - "hemopoiesis", - "Abnormal vestibulo-ocular reflex", - "femur", - "Metazoa", - "opaque lens of camera-type eye", - "Abnormal ear morphology", - "abnormal external ear", - "Abnormality of the outer ear", - "abnormal number of anatomical entities of type anatomical entity in blood", - "skeleton of pedal acropodium", - "abnormal external ear morphology", - "Abnormality of the ear", - "Abnormal pinna morphology", - "Abnormal frontal bone morphology", - "abdominal segment element", - "digit 1 plus metapodial segment", - "abnormal ear", - "external ear", - "abnormal number of anatomical enitites of type sperm", - "decreased biological_process", - "Cataract", - "semen", - "reproductive process", - "bony vertebral centrum", - "Decreased fertility in males", - "reproduction", - "abnormal ear morphology", - "Abnormal internal genitalia", - "brain ventricle", - "abnormal closing of the anatomical entity", - "Abnormal testis morphology", - "subdivision of skeleton", - "abnormal anatomical entity, curved", - "sexual reproduction", - "developmental process involved in reproduction", - "segment of pes", - "multicellular organismal reproductive process", - "skeleton of pedal digitopodium", - "abnormal reproductive process", - "skin of face", - "decreased qualitatively developmental process", - "multicellular organismal movement", - "Abnormal atrial septum morphology", - "absent anatomical entity in the semen", - "abnormal anatomical entity length", - "abnormal number of anatomical enitites of type cell", - "germ line cell", - "cardiac chamber", - "abnormal anatomical entity morphology", - "changed developmental process rate", - "Hip dislocation", - "malformed anatomical entity", - "Abnormal peripheral nervous system morphology", - "root", - "abnormal multicellular organismal reproductive process", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormally fused anatomical entity and anatomical entity", - "aplasia or hypoplasia of palatine uvula", - "absent gamete", - "digit 5", - "venous blood vessel", - "Functional abnormality of male internal genitalia", - "anatomical wall", - "absent sperm in the semen", - "Abnormality of the liver", - "obsolete multicellular organism reproduction", - "Azoospermia", - "decreased pigmentation in multicellular organism", - "Sideroblastic anemia", - "Non-obstructive azoospermia", - "increased biological_process in skin of body", - "abnormal cornea, asymmetrically curved", - "absent anatomical entity in the multicellular organism", - "Abnormal heart morphology", - "Multiple cafe-au-lait spots", - "pelvic complex", - "sperm", - "deviation of digit towards the middle", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "increased size of the anatomical entity in independent continuant", - "absent anatomical entity in the independent continuant", - "decreased qualitatively biological_process", - "specifically dependent continuant", - "Abnormal spermatogenesis", - "Micrognathia", - "abnormal internal genitalia", - "Abnormality of the face", - "decreased qualitatively reproductive process", - "abnormal heart right ventricle morphology", - "Abnormal toe phalanx morphology", - "Abnormal ganglion morphology", - "abnormal anatomical entity mass density", - "male gamete generation", - "decreased developmental process", - "abnormal gamete generation", - "abnormal developmental process involved in reproduction", - "abnormal interventricular septum morphology", - "abnormal anatomical entity morphology in the heart", - "prepuce", - "Decreased fertility", - "integument", - "pigmentation", - "brain ventricle/choroid plexus", - "abnormal vault of skull", - "Abnormality of skin morphology", - "Abnormality of the skin", - "abnormal craniocervical region morphology", - "abnormal integument", - "Abnormal oral morphology", - "abnormal skin of body morphology", - "Abnormality of brain morphology", - "erythrocyte homeostasis", - "abnormal arch of centrum of vertebra", - "venous system", - "Abnormal forebrain morphology", - "abnormal anatomical entity morphology in the brain", - "abnormal telencephalon morphology", - "Abnormal involuntary eye movements", - "aplasia or hypoplasia of anatomical entity", - "abnormal pes morphology", - "All", - "organism", - "increased size of the heart right ventricle", - "Abnormal skull morphology", - "embryonic tissue", - "Opisthokonta", - "reproductive organ", - "digitopodium bone", - "organism substance", - "eye", - "Aplasia/Hypoplasia of the testes", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormality of reproductive system physiology", - "regional part of brain", - "Microcephaly", - "increased qualitatively response to stimulus", - "endocrine system", - "skull", - "abnormal size of anatomical entity", - "aplasia or hypoplasia of telencephalon", - "abnormal leukocyte morphology", - "abnormal brain morphology", - "skeleton of pes", - "stylopod", - "organ part", - "immune system", - "renal system", - "esophagus", - "Abnormality of the urinary system physiology", - "skeleton of lower jaw", - "bone of appendage girdle complex", - "Unusual infection", - "excretory system", - "abnormal renal system", - "Abnormality of the immune system", - "palpebral fissure", - "abnormally fused pedal digit and anatomical entity", - "autonomic ganglion", - "deviation of manual digit towards the middle", - "Recurrent urinary tract infections", - "Abnormality of the urinary system", - "Ptosis", - "Craniofacial cleft", - "ductus arteriosus", - "neuron projection bundle", - "abnormal eyelid morphology", - "intromittent organ", - "Abnormality of skin pigmentation", - "autopodial extension", - "eyelid", - "abnormal camera-type eye morphology", - "Abnormal male reproductive system physiology", - "drooping eyelid", - "organ system subdivision", - "Abnormal eyelid morphology", - "anatomical line between pupils", - "system development", - "ocular adnexa", - "tissue morphogenesis", - "abnormal manus morphology", - "Abnormality of immune system physiology", - "multi organ part structure", - "Meckel diverticulum", - "transparent eye structure", - "Abnormal lens morphology", - "lens of camera-type eye", - "abnormal immune system", - "neural tube", - "opaque anatomical entity", - "abnormal anatomical entity morphology in the manus", - "Abnormality of skull size", - "abnormal manus", - "ventricular system of central nervous system", - "acropodium region", - "neural tube closure", - "manual digit 1", - "abnormal nervous system", - "manual digit plus metapodial segment", - "abnormal shape of external ear", - "skeleton of manus", - "gonad", - "abnormal zone of skin morphology", - "postcranial axial skeletal system", - "digit 1 digitopodial skeleton", - "asymmetrically curved anatomical entity", - "forelimb zeugopod bone", - "manual digit digitopodial skeleton", - "skeleton of manual acropodium", - "Abnormal digit morphology", - "abnormal manual digit morphology in the manus", - "Hernia of the abdominal wall", - "femur endochondral element", - "Abnormality of head or neck", - "Abnormality of reproductive system physiology", - "digit plus metapodial segment", - "abnormal kidney", - "trunk blood vessel", - "bone of pelvic complex", - "Abnormal bone structure", - "acropodial skeleton", - "abnormal bone element mass density", - "brain", - "manual digitopodium region", - "Hypertrophic cardiomyopathy", - "manus", - "cardiac valve", - "decreased spermatogenesis", - "abnormal prepuce of penis morphology", - "abnormal endocrine system", - "limb long bone", - "manual digit bone", - "Abnormal thumb morphology", - "Eumetazoa", - "segment of autopod", - "jaw region", - "manual digit phalanx endochondral element", - "abnormal manual digit morphology in the independent continuant", - "vein", - "internal male genitalia", - "Abnormal ocular adnexa morphology", - "Abnormal pulmonary valve physiology", - "Abnormality of thumb phalanx", - "Abnormal finger phalanx morphology", - "arterial system", - "abnormal phalanx of manus morphology", - "septum", - "autopodial skeleton", - "coronary vessel", - "abnormal anatomical entity, asymmetrically curved", - "abnormal anatomical entity morphology in the skeleton of manus", - "facial bone", - "Hearing impairment", - "abnormal digit", - "abnormally fused anatomical entity and manual digit", - "digestive system gland", - "abnormal ganglion morphology", - "phalanx", - "manual digit 1 phalanx endochondral element", - "autopod endochondral element", - "autopod bone", - "phalanx of manus", - "main body axis", - "manual digit", - "tetrapod frontal bone", - "limb joint", - "abnormal phalanx morphology", - "male reproductive system", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "future central nervous system", - "abnormally fused digit and anatomical entity", - "Growth delay", - "abnormal location of eyeball of camera-type eye", - "digitopodium region", - "Abnormality of the vertebral column", - "ecto-epithelium", - "embryonic structure", - "skeletal joint dislocation", - "developmental process", - "manual digit 1 digitopodial skeleton", - "abnormal vertebral column", - "abnormality of camera-type eye physiology", - "cranial nerve", - "embryonic epithelial tube formation", - "Abnormality of the peripheral nervous system", - "Hypoplastic facial bones", - "abnormal semi-lunar valve morphology", - "Reduced bone mineral density", - "Macule", - "abnormal reproductive system", - "anatomical structure formation involved in morphogenesis", - "Choanal atresia", - "Abnormal cerebral cortex morphology", - "anatomical structure development", - "male urethra", - "Abnormal vascular morphology", - "embryonic morphogenesis", - "Abnormal eye physiology", - "Abnormality of the lower limb", - "abnormal erythrocyte morphology", - "postcranial axial skeleton", - "Abnormal cellular phenotype", - "vertebral column", - "abnormal long bone morphology", - "paired limb/fin skeleton", - "morphogenesis of an epithelium", - "articular system", - "neural tube development", - "tube morphogenesis", - "innominate bone", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormally increased number of anatomical entity", - "abnormal blood cell morphology", - "subdivision of organism along appendicular axis", - "abnormal embryonic tissue morphology", - "abnormal myeloid cell morphology", - "Abnormality of the nervous system", - "respiratory tract", - "abnormal cell morphology", - "primary neural tube formation", - "neural tube formation", - "Abnormal small intestine morphology", - "abnormal secondary palate morphology", - "digestive system", - "abnormal neural tube closure", - "erythrocyte", - "telencephalon", - "Hydrocephalus", - "manual digit 1 plus metapodial segment", - "Abnormal vertebral morphology", - "Spina bifida", - "Abnormality of mental function", - "tissue", - "abnormally decreased number of cell", - "abnormal intestine morphology", - "abnormal vertebra morphology", - "abnormal anatomical entity topology in independent continuant", - "Abnormal myeloid cell morphology", - "palatine uvula", - "nervous system", - "morphogenesis of embryonic epithelium", - "Abnormality of the kidney", - "Abnormality of male external genitalia", - "limb segment", - "cerebral cortex", - "gray matter of forebrain", - "abnormal incomplete closing of the arch of centrum of vertebra", - "dorsum", - "roof of mouth", - "absent anatomical entity", - "central nervous system", - "circulatory organ", - "abnormal outflow part of left ventricle morphology", - "abnormality of male reproductive system physiology", - "glandular system", - "reflexive behavior", - "abnormal tube formation", - "Abnormality of chromosome stability", - "Abnormal blood vessel morphology", - "spinal cord", - "abnormal limb bone morphology", - "abnormal opening of the anatomical entity", - "abnormal number of anatomical enitites of type myeloid cell", - "Vertebral arch anomaly", - "Frontal bossing", - "axial skeleton plus cranial skeleton", - "gray matter of telencephalon", - "parasympathetic nervous system", - "prepuce of penis", - "vertebra", - "abnormality of anatomical entity physiology", - "artery", - "vasculature", - "Abnormal anus morphology", - "Abnormality of limb bone", - "Decreased head circumference", - "sense organ", - "subdivision of skeletal system", - "circulatory system", - "abnormally decreased number of anatomical entity in the multicellular organism", - "cardiovascular system", - "process", - "epithelium", - "abnormal neural tube morphology", - "Abnormal respiratory system physiology", - "abnormal bone of pectoral complex morphology", - "urethral opening", - "camera-type eye", - "shape longitudinal arch of pes", - "Abnormality of the upper limb", - "embryo development", - "anatomical projection", - "Abnormal reproductive system morphology", - "systemic arterial system", - "viscus", - "arterial blood vessel", - "Abnormal eye morphology", - "abnormal cardiovascular system morphology", - "abnormally formed anatomical entity in independent continuant", - "abnormal anterior segment of eyeball morphology", - "thoracic segment of trunk", - "umbilicus", - "vascular system", - "dorsal region element", - "Abnormality of the vasculature", - "abnormal cerebral hemisphere morphology", - "common carotid artery plus branches", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal cardiovascular system", - "abnormal common carotid artery plus branches morphology", - "quality", - "epithelial tube", - "abnormal digestive system morphology", - "Abnormal systemic arterial morphology", - "abnormal duodenum morphology", - "Abnormal cranial nerve physiology", - "nerve", - "peripheral nervous system", - "Abnormal neural tube morphology", - "paralysed anatomical entity", - "Abnormal pelvic girdle bone morphology", - "Clubbing", - "Upslanted palpebral fissure", - "forebrain", - "Eukaryota", - "ileum", - "abnormal synovial joint morphology", - "abnormal peripheral nervous system", - "aplasia or hypoplasia of uvea", - "future nervous system", - "increased reflex", - "forelimb", - "transudate", - "shape cornea", - "bone of free limb or fin", - "abnormal olfactory system morphology", - "Abnormal appendicular skeleton morphology", - "abnormal incomplete closing of the anatomical entity", - "pectoral appendage", - "bodily fluid", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormal limb long bone morphology", - "cranial nerve related reflex", - "Abnormal upper limb bone morphology", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal nervous system morphology", - "abnormal incomplete closing of the interatrial septum", - "forelimb zeugopod", - "multi-limb segment region", - "bone of jaw", - "organ", - "Abnormal cornea morphology", - "abnormal female reproductive system", - "abnormal nervous system morphology", - "vasculature of organ", - "Cranial nerve paralysis", - "abnormal cell", - "abnormal innominate bone morphology", - "bone element", - "digit 1", - "upper jaw region", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "left cardiac chamber", - "abnormal vascular system morphology", - "Abnormal foot morphology", - "visual system", - "thoracic segment organ", - "limb bone", - "cranial skeletal system", - "abnormal vertebral column morphology", - "organism subdivision", - "vestibulo-auditory system", - "absent germ cell", - "paired limb/fin", - "Recurrent infections", - "response to stimulus", - "brain gray matter", - "forelimb endochondral element", - "Abnormal curvature of the vertebral column", - "pectoral appendage skeleton", - "Conotruncal defect", - "abnormal limb", - "abnormal peripheral nervous system morphology", - "simple eye", - "abnormal forelimb morphology", - "Abnormal carotid artery morphology", - "skeletal element", - "abnormal bony vertebral centrum morphology", - "internal naris", - "non-connected functional system", - "abnormal forelimb zeugopod morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormality of multicellular organism height", - "Abnormal forearm bone morphology", - "abnormal forehead morphology", - "Abnormal form of the vertebral bodies", - "Aplasia/hypoplasia of the extremities", - "skeleton of digitopodium", - "skeleton of pectoral complex", - "abnormal systemic artery morphology", - "abnormal manual digit 5 morphology", - "Abnormality of the integument", - "vertebral centrum element", - "urethra", - "paired limb/fin segment", - "external soft tissue zone", - "Abnormal skeletal morphology", - "Tetralogy of Fallot", - "abnormal size of skull", - "Abnormality of the musculoskeletal system", - "abnormal development of anatomical entity", - "ulna", - "trunk region element", - "anatomical entity", - "pectoral complex", - "abnormal great vessel of heart morphology", - "abnormal midface morphology", - "abnormal appendicular skeleton morphology", - "immune system process", - "tunica fibrosa of eyeball", - "abnormal developmental process", - "bone of pectoral complex", - "forelimb skeleton", - "abdominal segment of trunk", - "digit", - "endoderm-derived structure", - "Abnormal respiratory system morphology", - "Abnormal morphology of ulna", - "urethral meatus", - "layer of muscle tissue", - "head bone", - "Abnormality of the skeletal system", - "increased biological_process", - "arm bone", - "appendage girdle complex", - "abnormally fused manual digit and anatomical entity", - "endochondral bone", - "abnormally decreased number of leukocyte", - "irregular bone", - "abnormal ulna morphology", - "arch of centrum of vertebra", - "abnormal musculoskeletal movement", - "Abnormality of the respiratory system", - "abnormal skeletal system", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "Abnormal pulmonary valve morphology", - "Abnormal hand morphology", - "abnormal aortic valve morphology", - "Tracheoesophageal fistula", - "abnormality of cranial nerve physiology", - "Abnormality of body height", - "Abnormal palate morphology", - "Abnormality of limb bone morphology", - "phalanx of pes", - "biological_process", - "nervous system development", - "abnormal heart layer morphology", - "Abnormal forearm morphology", - "Abnormality of the hypothalamus-pituitary axis", - "penis", - "abnormal phalanx of pes morphology", - "Morphological central nervous system abnormality", - "phalanx endochondral element", - "limb skeleton subdivision", - "decreased qualitatively pigmentation", - "abnormal ocular adnexa", - "Hydroureter", - "posterior nasal aperture", - "abnormally fused anatomical entity and digit", - "Neurodevelopmental abnormality", - "abnormal penis morphology", - "male urethral meatus", - "Abnormality of the female genitalia", - "abnormal testis morphology", - "Abnormal esophagus morphology", - "abnormal anterior uvea morphology", - "reproductive system", - "abnormal sensory perception of light stimulus", - "exocrine gland", - "abnormal male reproductive system morphology", - "entity", - "Abnormality of the curvature of the cornea", - "abnormally decreased functionality of the gonad", - "skeleton of manual digitopodium", - "axial skeletal system", - "decreased biological_process in multicellular organism", - "hypertrophic multicellular anatomical structure", - "Abnormal joint morphology", - "spermatogenesis", - "absent sperm", - "abnormal liver", - "abnormally fused anatomical entity and pedal digit", - "Aplasia/hypoplasia involving forearm bones", - "abnormality of nervous system physiology", - "abnormality of anatomical entity height", - "abnormal genitourinary system", - "Abnormality of connective tissue", - "aplasia or hypoplasia of eyeball of camera-type eye", - "independent continuant", - "abnormal orbital region", - "shape digit", - "curved anatomical entity", - "long bone", - "Abnormal spinal cord morphology", - "abnormal male reproductive system", - "Hyperpigmentation of the skin", - "epithelium development", - "manual digit 1 or 5", - "reproductive structure", - "obsolete cell", - "male reproductive organ", - "Umbilical hernia", - "abnormal reproductive system morphology", - "thoracic segment blood vessel", - "Abnormality of the gastrointestinal tract", - "Cognitive impairment", - "abnormal external genitalia", - "abnormal cornea morphology", - "Abnormal external genitalia", - "anterior region of body", - "Triphalangeal thumb", - "epithelial tube formation", - "abnormal pelvic girdle bone/zone morphology", - "skeleton of limb", - "multicellular organismal-level homeostasis", - "manus bone", - "nervous system cell part layer", - "skeleton", - "pelvic girdle region", - "individual digit of digitopodial skeleton", - "developing anatomical structure", - "Abnormal preputium morphology", - "integumental system", - "abnormal gamete", - "Abnormal nervous system physiology", - "anatomical structure", - "abnormally increased number of anatomical entity in the independent continuant", - "Morphological abnormality of the gastrointestinal tract", - "upper leg bone", - "Abnormality of the mouth", - "Abnormal penis morphology", - "lateral structure", - "limb", - "Abnormality of the hand", - "appendicular skeletal system", - "increased height of anatomical entity in independent continuant", - "germ cell", - "abnormality of cardiovascular system physiology", - "multicellular organism development", - "abnormal spermatogenesis", - "segment of manus", - "Joint dislocation", - "body proper", - "cellular process", - "Abnormal anterior eye segment morphology", - "abnormal connective tissue", - "aortic valve", - "abnormal eyeball of camera-type eye", - "testis", - "shape eyelid", - "craniocervical region", - "Abnormality of the genital system", - "Deviation of the hand or of fingers of the hand", - "paralysed cranial nerve", - "abnormal vasculature", - "nerve of head region", - "upper urinary tract", - "hindlimb endochondral element", - "abnormally increased number of brain ventricle in the independent continuant", - "delayed biological_process", - "skeletal system", - "Neoplasm", - "system process", - "manual digit 1 phalanx", - "Abnormal calvaria morphology", - "abnormal forelimb zeugopod bone", - "increased height of the anatomical entity", - "external male genitalia", - "upper eyelid", - "Abnormal ear physiology", - "Astigmatism", - "abnormal arm", - "decreased pigmentation in skin of body", - "abnormal small intestine morphology", - "Abnormal cerebral morphology", - "organ subunit", - "organ component layer", - "Ventricular septal defect", - "abnormality of immune system physiology", - "genitourinary system", - "multicellular organismal process", - "anterior segment of eyeball", - "cognition", - "subdivision of head", - "abnormal central nervous system morphology", - "Abnormal renal morphology", - "continuant", - "haploid cell", - "Abnormality of limbs", - "Abnormality of eye movement", - "abnormal alimentary part of gastrointestinal system morphology", - "material entity", - "Abnormal platelet count", - "abnormal head", - "asymmetrically curved cornea", - "face", - "abnormal craniocervical region", - "entire sense organ system", - "pelvic appendage skeleton", - "upper limb segment", - "Abnormal duodenum morphology", - "neural crest-derived structure", - "abdomen element", - "Abnormality of the orbital region", - "cranial neuron projection bundle", - "curvature anatomical entity", - "heart vasculature", - "arm", - "respiratory tube", - "ocular surface region", - "Abnormality of enteric ganglion morphology", - "disconnected anatomical group", - "drooping anatomical entity", - "presumptive structure", - "abnormal limb morphology", - "Abnormal facial shape", - "eyeball of camera-type eye", - "curved anatomical entity in independent continuant", - "Duodenal stenosis", - "musculoskeletal system", - "abnormal nerve", - "Abnormality of refraction", - "appendage", - "homeostasis of number of cells", - "embryo", - "Aganglionic megacolon", - "changed biological_process rate", - "blood cell", - "abnormal spinal cord morphology", - "Atypical behavior", - "Neural tube defect", - "abnormally decreased number of hematopoietic cell", - "tracheobronchial tree", - "protein-containing material entity", - "abnormal autopod region morphology", - "abnormal shape of cornea", - "radius endochondral element", - "Abnormal morphology of the radius", - "abnormal respiratory tube morphology", - "epithelial tube morphogenesis", - "alimentary part of gastrointestinal system", - "abnormal platelet", - "anatomical cluster", - "Abnormality of corneal shape", - "appendicular skeleton", - "Abnormality of blood and blood-forming tissues", - "Abnormal axial skeleton morphology", - "Abnormality of thrombocytes", - "facial skeleton", - "Aplasia/Hypoplasia of the cerebrum", - "abnormal male reproductive organ morphology", - "male organism", - "regional part of nervous system", - "shape anatomical entity", - "digit 5 plus metapodial segment", - "tube closure", - "Abnormal heart valve physiology", - "forelimb bone", - "Abnormal vestibular function", - "abnormal head morphology", - "head", - "oral cavity", - "abnormal respiratory system", - "herniated abdominal wall", - "male gamete", - "Abnormal size of the palpebral fissures", - "abnormality of respiratory system physiology", - "ectoderm-derived structure", - "Abnormal long bone morphology", - "systemic artery", - "abnormal size of head", - "manual digit 5 plus metapodial segment", - "structure with developmental contribution from neural crest", - "anatomical structure morphogenesis", - "orbital region", - "trachea", - "mouth", - "decreased size of the eyeball of camera-type eye", - "Abnormality of the digestive system", - "abnormal cornea, curved", - "abnormal tracheobronchial tree morphology", - "proximo-distal subdivision of respiratory tract", - "chordate embryonic development", - "Short long bone", - "immaterial anatomical entity", - "endochondral element", - "abnormal amniotic fluid", - "Abnormality of the head", - "phenotype", - "anus", - "abnormal digit morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal forebrain morphology", - "erythroid lineage cell", - "pulmonary valve", - "flat bone", - "hematopoietic system", - "Abnormality of body weight", - "subdivision of tube", - "skin of body", - "multi-tissue structure", - "abnormal biological_process", - "abnormal pigmentation", - "lower respiratory tract", - "abnormality of renal system physiology", - "gray matter", - "abnormal ocular adnexa morphology", - "Abnormality of the eye", - "abnormal growth", - "respiratory system", - "changed biological_process rate in independent continuant", - "gamete", - "Neurodevelopmental delay", - "late embryo", - "abnormal external male genitalia", - "digestive tract", - "abnormal ureter", - "abnormal palpebral fissure", - "Abnormality of the male genitalia", - "gland", - "abnormal cardiac atrium morphology in the heart", - "abnormal postcranial axial skeleton morphology", - "abnormal systemic arterial system morphology", - "abnormal shape of continuant", - "neurocranium bone", - "pelvic girdle bone/zone", - "Abnormal peripheral nerve morphology by anatomical site", - "lower limb segment", - "limb endochondral element", - "zeugopod", - "abnormal esophagus morphology", - "behavior", - "anatomical conduit", - "bone element hypoplasia in face", - "blood vasculature", - "cornea", - "increased pigmentation", - "abnormal hematopoietic system", - "anatomical collection", - "embryo development ending in birth or egg hatching", - "subdivision of organism along main body axis", - "glans penis", - "abnormal respiratory system morphology", - "subdivision of trunk", - "abnormally decreased number of anatomical entity in the blood", - "Abnormal morphology of female internal genitalia", - "curvature anatomical entity in independent continuant", - "Phenotypic abnormality", - "heart right ventricle", - "cellular organisms", - "Abnormality of the testis size", - "increased length of the anatomical entity", - "shape anatomical entity in independent continuant", - "Absent testis", - "system", - "Aplasia/Hypoplasia involving bones of the skull", - "abnormal digestive system", - "subdivision of digestive tract", - "abnormal heart morphology", - "tube development", - "heart left ventricle", - "aplasia or hypoplasia of manual digit", - "Neoplasm by anatomical site", - "tube", - "mandible", - "zeugopodial skeleton", - "pedal digit digitopodial skeleton", - "abnormal anatomical entity", - "abnormal limb bone", - "abnormal blood vessel morphology", - "non-material anatomical boundary", - "leg bone", - "Abnormality of digestive system morphology", - "abnormal head bone morphology", - "abnormal leg", - "abnormal artery morphology", - "musculoskeletal movement", - "digit 1 or 5", - "Intellectual disability", - "abnormal vestibulo-ocular reflex", - "Decreased anatomical entity mass", - "abnormal small intestine", - "abnormal penis", - "Abnormal cell morphology", - "thoracic cavity element", - "abnormal phenotype by ontology source", - "multicellular anatomical structure", - "increased biological_process in independent continuant", - "manual digitopodium bone", - "abnormal skeletal system morphology", - "abnormally protruding anatomical entity", - "absent sperm in the independent continuant", - "occurrent", - "clavate digit", - "endocrine gland", - "abnormal incomplete closing of the interventricular septum", - "Abnormal bone ossification", - "Abnormal tracheobronchial morphology", - "Abnormal tracheal morphology", - "abnormal alimentary part of gastrointestinal system", - "tube formation", - "ulna endochondral element", - "autopod region", - "compound organ", - "nose", - "Abnormality of the genitourinary system", - "deviation of manual digit", - "3-D shape anatomical entity in independent continuant", - "digestive system element", - "ear", - "aplasia or hypoplasia of iris", - "Abnormality of the ocular adnexa", - "vessel", - "forelimb long bone", - "cell", - "Spinal dysraphism", - "phenotype by ontology source", - "Abnormality of enteric nervous system morphology", - "gamete generation", - "shape palpebral fissure", - "tissue development", - "Localized skin lesion", - "hemolymphoid system", - "material anatomical entity", - "Short forearm", - "Abnormality of cardiovascular system morphology", - "Hematological neoplasm", - "abnormally fused digit and digit", - "external genitalia", - "abnormal roof of mouth morphology", - "abnormal lens of camera-type eye morphology", - "abnormal face", - "vertebral element", - "Myelodysplasia", - "mesoderm-derived structure", - "increased size of the brain ventricle", - "Anemia of inadequate production", - "multicellular organism", - ], - }, - { - "id": "MONDO:0007600", - "category": "biolink:Disease", - "name": "primary Fanconi syndrome", - "xref": ["GARD:9118", "NCIT:C123229", "Orphanet:3337"], - "provided_by": "phenio_nodes", - "description": "A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.", - "synonym": ["FRTS1", "Fanconi renotubular syndrome 1", "primary Fanconi renotubular syndrome"], - "namespace": "MONDO", - "has_phenotype": [ - "HP:0002749", - "HP:0001324", - "HP:0000117", - "HP:0001510", - "HP:0003774", - "HP:0002150", - "HP:0001944", - "HP:0002206", - "HP:0001943", - "HP:0012622", - "HP:0012606", - "HP:0004912", - "HP:0003537", - "HP:0003234", - "HP:0003081", - "HP:0002900", - "HP:0002659", - "HP:0002653", - "HP:0002148", - "HP:0001824", - "HP:0032943", - "HP:0004918", - "HP:0004910", - "HP:0003646", - "HP:0003149", - "HP:0003126", - "HP:0003076", - "HP:0002909", - "HP:0002049", - ], - "has_phenotype_label": [ - "Osteomalacia", - "Muscle weakness", - "Renal phosphate wasting", - "Growth delay", - "Stage 5 chronic kidney disease", - "Hypercalciuria", - "Dehydration", - "Pulmonary fibrosis", - "Hypoglycemia", - "Chronic kidney disease", - "Renal sodium wasting", - "Hypophosphatemic rickets", - "Hypouricemia", - "Decreased plasma carnitine", - "Increased urinary potassium", - "Hypokalemia", - "Increased susceptibility to fractures", - "Bone pain", - "Hypophosphatemia", - "Weight loss", - "Abnormal urine pH", - "Hyperchloremic metabolic acidosis", - "Bicarbonate-wasting renal tubular acidosis", - "Bicarbonaturia", - "Hyperuricosuria", - "Low-molecular-weight proteinuria", - "Glycosuria", - "Generalized aminoaciduria", - "Proximal renal tubular acidosis", - ], - "has_phenotype_count": 29, - "has_phenotype_closure": [ - "UPHENO:0046286", - "UPHENO:0068040", - "UPHENO:0051930", - "HP:0001992", - "HP:0031980", - "UPHENO:0068495", - "UPHENO:0080658", - "HP:0003076", - "UPHENO:0051635", - "UPHENO:0068058", - "CHEBI:37622", - "CHEBI:50047", - "CHEBI:33709", - "UPHENO:0068565", - "UPHENO:0068247", - "CHEBI:16541", - "HP:0012610", - "UPHENO:0068024", - "UPHENO:0051688", - "CHEBI:17544", - "UPHENO:0051714", - "UPHENO:0051659", - "UPHENO:0084542", - "UPHENO:0068491", - "UPHENO:0078554", - "UPHENO:0068036", - "HP:0011279", - "HP:0003646", - "HP:0033354", - "UBERON:0000483", - "UBERON:0001231", - "UPHENO:0066927", - "HP:0000124", - "UBERON:0000479", - "UBERON:0003914", - "UBERON:0004819", - "UBERON:0006555", - "UBERON:0009773", - "UBERON:0004211", - "HP:0001947", - "UPHENO:0066943", - "UBERON:0001285", - "UPHENO:0068169", - "UPHENO:0082543", - "HP:0004918", - "UPHENO:0082538", - "UPHENO:0082539", - "HP:0001942", - "HP:0032943", - "HP:0004323", - "UPHENO:0010795", - "UPHENO:0082794", - "UPHENO:0010763", - "UPHENO:0082761", - "UPHENO:0054299", - "HP:0001824", - "HP:0012531", - "HP:0002653", - "CHEBI:24835", - "UBERON:0007684", - "HP:0010930", - "CHEBI:37247", - "HP:0001995", - "CHEBI:36916", - "CHEBI:36914", - "CHEBI:29103", - "HP:0010929", - "UPHENO:0051958", - "HP:0002900", - "UPHENO:0051645", - "UPHENO:0034438", - "CHEBI:36915", - "CHEBI:23906", - "CHEBI:60242", - "CHEBI:25414", - "HP:0003081", - "UPHENO:0068350", - "UPHENO:0051739", - 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"UPHENO:0049618", - "CHEBI:26020", - "UBERON:0006314", - "UPHENO:0051847", - "CHEBI:22563", - "UPHENO:0046348", - "HP:0012252", - "CHEBI:25696", - "UPHENO:0051686", - "UPHENO:0051960", - "UPHENO:0080556", - "CHEBI:26079", - "UBERON:0001015", - "CHEBI:23367", - "HP:0011804", - "UPHENO:0052008", - "HP:0003330", - "HP:0003110", - "UPHENO:0046284", - "CHEBI:24870", - "UPHENO:0051608", - "CHEBI:26216", - "CHEBI:33559", - "UPHENO:0034248", - "HP:0003111", - "CHEBI:36359", - "UPHENO:0079824", - "GO:0055080", - "UPHENO:0050539", - "CHEBI:33302", - "HP:0032180", - "UPHENO:0006889", - "UBERON:0001630", - "UPHENO:0087433", - "UPHENO:0002832", - "UPHENO:0051668", - "UBERON:0001008", - "UBERON:8450002", - "UPHENO:0002536", - "UBERON:0001434", - "UPHENO:0051763", - "UPHENO:0068091", - "CHEBI:37577", - "GO:0042592", - "CHEBI:51151", - "UPHENO:0068144", - "CHEBI:33675", - "CHEBI:33241", - "GO:0033500", - "UPHENO:0051678", - "UPHENO:0002320", - "HP:0000117", - "GO:0006725", - "UBERON:0004765", - "UBERON:0000475", - "UBERON:0001004", - "UBERON:0000062", - "UPHENO:0002803", - "CHEBI:26401", - "UPHENO:0078555", - "HP:0001510", - "UPHENO:0082834", - "CHEBI:35875", - "UBERON:0000489", - "UPHENO:0081550", - "GO:0005975", - "CHEBI:35568", - "CHEBI:16670", - "UPHENO:0075696", - "UBERON:0002204", - "UPHENO:0068079", - "UPHENO:0084541", - "GO:0008150", - "UBERON:0005173", - "HP:0002749", - "UBERON:0003103", - "CHEBI:22314", - "UPHENO:0082835", - "HP:0004349", - "UPHENO:0084653", - "BFO:0000001", - "UPHENO:0034391", - "CHEBI:22313", - "UBERON:0000465", - "UPHENO:0002332", - "UPHENO:0081547", - "HP:0003011", - "UPHENO:0050080", - "GO:0050801", - "GO:0032501", - "UPHENO:0068102", - "CHEBI:35352", - "HP:0000924", - "UBERON:0001062", - "UBERON:0001088", - "HP:0002659", - "CHEBI:27226", - "HP:0000001", - "UPHENO:0075902", - "UPHENO:0078640", - "HP:0011013", - "UBERON:0004122", - "HP:0012622", - "UBERON:0011216", - "UPHENO:0050342", - "HP:0004348", - "HP:0011849", - "HP:0000093", - "CHEBI:33692", - "UPHENO:0002442", - "CHEBI:33608", - "UBERON:0010000", - "HP:0002049", - "BFO:0000020", - "UBERON:0005181", - "CHEBI:33296", - "UPHENO:0076692", - "HP:0000118", - "UPHENO:0082875", - "UPHENO:0001001", - "UPHENO:0051937", - "HP:0012606", - "UPHENO:0084654", - "BFO:0000004", - "HP:6000531", - "UPHENO:0051640", - "CHEBI:35573", - "HP:0010932", - "UPHENO:0050113", - "BFO:0000015", - "UPHENO:0024906", - "CHEBI:33672", - "CHEBI:33256", - "CHEBI:33636", - "UPHENO:0076703", - ], - "has_phenotype_closure_label": [ - "abnormal independent continuant carboxylic acid level", - "abnormal urine amino acid level", - "Aminoaciduria", - "increased level of carboxylic acid in independent continuant", - "increased level of amino acid in urine", - "increased level of monosaccharide in independent continuant", - "Glycosuria", - "increased level of monosaccharide in urine", - "increased level of glucose in independent continuant", - "Abnormal urine protein level", - "increased level of protein polypeptide chain in independent continuant", - "primary amide", - "organic amino compound", - "macromolecule", - "abnormal independent continuant amino acid level", - "Proteinuria", - "amide", - "protein polypeptide chain", - "abnormal independent continuant protein polypeptide chain level", - "increased level of uric acid in independent continuant", - "increased level of uric acid in urine", - "Abnormality of urinary uric acid level", - "increased level of organic molecular entity in independent continuant", - "abnormal hydrogencarbonate level", - "Bicarbonaturia", - "Abnormal urinary organic compound level", - "abnormal urine hydrogencarbonate level", - "hydrogencarbonate", - "renal tubule", - "uriniferous tubule", - "nephron", - "Low-molecular-weight proteinuria", - "kidney epithelium", - "Bicarbonate-wasting renal tubular acidosis", - "excretory tube", - "Renal tubular dysfunction", - "tissue", - "abnormally decreased functionality of the nephron tubule", - "Hyperchloremic acidosis", - "increased bodily fluid acid level", - "increased bodily fluid role level", - "Hyperchloremic metabolic acidosis", - "decreased multicellular organism mass", - "Weight loss", - "abnormality of multicellular organism mass", - "Decreased anatomical entity mass", - "Decreased body weight", - "anatomical entity dysfunction in independent continuant", - "decreased anatomical entity mass", - "Pain", - "Increased susceptibility to fractures", - "abnormality of musculoskeletal system physiology", - "alkali metal molecular entity", - "abnormal independent continuant potassium(1+) level", - "potassium molecular entity", - "monoatomic cation homeostasis", - "Abnormal blood potassium concentration", - "abnormal urine glucose level", - "inorganic cation", - "monoatomic cation", - "decreased level of potassium atom in independent continuant", - "Abnormal blood cation concentration", - "abnormal blood potassium(1+) level", - "cation", - "inorganic ion", - "metal cation", - "monoatomic monocation", - "Abnormal blood monovalent inorganic cation concentration", - "abnormal monoatomic cation homeostasis", - "abnormal urine organic anion level", - "abnormal independent continuant potassium atom level", - "increased level of potassium atom in urine", - "Increased urinary potassium", - "Abnormal urine potassium concentration", - "potassium atom", - "abnormal carboxylic acid metabolic process", - "Abnormality of mitochondrial metabolism", - "abnormal acid bodily fluid level", - "abnormal carnitine metabolic process", - "abnormal independent continuant carnitine level", - "Abnormal circulating fatty-acid anion concentration", - "Elevated urinary carboxylic acid", - "abnormal fatty acid metabolic process", - "inorganic molecular entity", - "amino-acid betaine", - "cellular anatomical entity", - "abnormal acid independent continuant level", - "lipid metabolic process", - "abnormal cellular_component", - "abnormal amino acid derivative level", - "organelle", - "Abnormal circulating lipid concentration", - "excretory system", - "abnormal lipid metabolic process", - "Growth abnormality", - "amino-acid betaine metabolic process", - "Abnormality of the mitochondrion", - "abnormal potassium atom level", - "Abnormality of fluid regulation", - "mitochondrion", - "Abnormal circulating fatty-acid concentration", - "All", - "intracellular organelle", - "abnormal blood carnitine level", - "oxoacid", - "increased independent continuant acid level", - "organic oxo compound", - "cytoplasm", - "decreased level of carnitine in blood", - "nephron tubule", - "increased level of chemical entity in bodily fluid", - "carbon oxoacid", - "abnormal sodium atom level", - "organic acid metabolic process", - "oxoanion", - "increased level of hydrogencarbonate in urine", - "obsolete cellular nitrogen compound metabolic process", - "increased level of chemical entity in blood", - "hydrogen molecular entity", - "intracellular anatomical structure", - "increased level of amino acid in independent continuant", - "cellular process", - "imidazopyrimidine", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal independent continuant hydrogencarbonate level", - "Azotemia", - "organonitrogen compound metabolic process", - "s-block molecular entity", - "hydrides", - "Decreased circulating purine concentration", - "carboxylic acid", - "nucleobase", - "abnormal purine nucleobase metabolic process", - "cellular modified amino acid metabolic process", - "nucleobase metabolic process", - "purine-containing compound metabolic process", - "cyclic compound", - "abnormal urine sodium atom level", - "organic molecule", - "organic heterobicyclic compound", - "mancude organic heterocyclic parent", - "aromatic compound", - "organonitrogen heterocyclic compound", - "increased level of hydrogencarbonate in independent continuant", - "organic heteropolycyclic compound", - "increased level of potassium atom in independent continuant", - "heteroarene", - "phenotype by ontology source", - "excreta", - "cell", - "cellular metabolic process", - "monocarboxylic acid anion", - "heterobicyclic compound", - "abnormal blood nitrogen molecular entity level", - "polyatomic entity", - "ion", - "abnormal nitrogen compound metabolic process", - "abnormal anatomical entity mass density", - "decreased level of uric acid in independent continuant", - "abnormal small molecule metabolic process", - "zwitterion", - "organic mancude parent", - "molecule", - "mancude ring", - "fatty acid metabolic process", - "increased level of calcium atom in independent continuant", - "abnormal independent continuant calcium atom level", - "organonitrogen compound", - "Abnormal urine phosphate concentration", - "thoracic segment organ", - "carboxylic acid metabolic process", - "mancude organic heterobicyclic parent", - "abnormality of anatomical entity mass", - "bone element", - "abnormal cell", - "heterocyclic compound", - "organic cyclic compound", - "Decreased multicellular organism mass", - "organic hydride", - "Proximal renal tubular acidosis", - "abnormal independent continuant uric acid level", - "purine", - "organic heterocyclic compound", - "organic aromatic compound", - "dipolar compound", - "elemental potassium", - "anatomical conduit", - "Hypophosphatemia", - "polycyclic compound", - "onium betaine", - "heteropolycyclic compound", - "Abnormality of urine bicarbonate level", - "Abnormal blood ion concentration", - "abnormal blood phosphate level", - "Abnormality of body weight", - "abnormal independent continuant monoatomic ion level", - "decreased level of phosphate in blood", - "monocarboxylic acid", - "decreased level of chemical entity", - "abnormal independent continuant organic anion level", - "decreased role blood level", - "phosphate ion homeostasis", - "increased independent continuant role level", - "decreased level of chemical entity in blood", - "monoatomic ion", - "Rickets", - "endoderm-derived structure", - "cellular lipid metabolic process", - "decreased level of chemical entity in independent continuant", - "abnormal urine potassium atom level", - "haemolymphatic fluid", - "hematopoietic system", - "blood", - "abnormal skeletal system morphology", - "abnormal independent continuant carbohydrate level", - "Abnormal cellular physiology", - "abnormal biological_process", - "lower respiratory tract", - "glucose", - "aldohexose", - "bodily fluid", - "abnormal primary metabolic process", - "abnormal independent continuant glucose level", - "amino acid derivative", - "decreased level of uric acid in blood", - "decreased role independent continuant level", - "organic substance metabolic process", - "abnormal blood chemical entity level", - "abnormal nucleobase metabolic process", - "hemolymphoid system", - "fatty acid", - "Abnormal urine sodium concentration", - "Abnormal urine carboxylic acid level", - "abnormal blood glucose level", - "biological_process", - "protein-containing material entity", - "purine nucleobase metabolic process", - "Abnormality of the musculoskeletal system", - "Hypophosphatemic rickets", - "anatomical system", - "Abnormal glucose homeostasis", - "organ", - "heteroorganic entity", - "Abnormal circulating nitrogen compound concentration", - "Abnormal blood phosphate concentration", - "monosaccharide", - "increased level of nitrogen molecular entity in blood", - "Abnormal circulating metabolite concentration", - "hydroxides", - "chemical homeostasis", - "increased level of protein polypeptide chain in urine", - "decreased muscle organ strength", - "abnormal role bodily fluid level", - "Abnormal blood glucose concentration", - "nephron epithelium", - "Abnormal circulating organic compound concentration", - "mesoderm-derived structure", - "increased level of purines in independent continuant", - "abnormality of respiratory system physiology", - "Abnormal circulating nucleobase concentration", - "Generalized aminoaciduria", - "abnormal urine calcium atom level", - "abnormal carbohydrate metabolic process", - "p-block molecular entity", - "obsolete heterocycle metabolic process", - "Muscle weakness", - "organic molecular entity", - "intracellular membrane-bounded organelle", - "abnormal blood potassium atom level", - "Renal sodium wasting", - "abdominal segment element", - "abnormal glucose homeostasis", - "abnormal chemical homeostasis", - "proximo-distal subdivision of respiratory tract", - "lung fibrosis", - "Abnormal lung morphology", - "subdivision of tube", - "elemental molecular entity", - "respiratory tract", - "oxide", - "abnormal monocarboxylic acid metabolic process", - "obsolete nitrogen compound metabolic process", - "urine", - "Abnormal renal physiology", - "abnormal growth", - "respiratory system", - "Abnormality of acid-base homeostasis", - "oxygen molecular entity", - "anatomical collection", - "independent continuant", - "abnormal independent continuant chemical entity level", - "Abnormal respiratory system morphology", - "atom", - "lung", - "amino acid", - "anion", - "abnormal skeletal system", - "regulation of body fluid levels", - "Abnormality of the respiratory system", - "sodium atom", - "abnormal cellular process", - "abnormal lung morphology", - "abnormal phenotype by ontology source", - "Abnormality of the kidney", - "thoracic cavity element", - "increased level of organic acid in independent continuant", - "abnormally decreased functionality of the anatomical entity", - "skeletal system", - "upper urinary tract", - "Pulmonary fibrosis", - "abnormal amino-acid betaine level", - "epithelium", - "hexose", - "Decreased anatomical entity mass density", - "Abnormal respiratory system physiology", - "nitrogen molecular entity", - "organochalcogen compound", - "abnormal anatomical entity morphology in the independent continuant", - "polypeptide", - "abnormal respiratory system", - "small molecule metabolic process", - "renal system", - "Dehydration", - "organ system subdivision", - "process", - "carboxamide", - "biological regulation", - "abnormal carbohydrate homeostasis", - "lateral structure", - "abnormal regulation of body fluid levels", - "abnormal cellular metabolic process", - "carbohydrate", - "homeostatic process", - "fatty acid anion", - "abnormal role urine level", - "increased level of organic acid in urine", - "Renal insufficiency", - "Abnormal urinary electrolyte concentration", - "increased level of chemical entity in urine", - "tube", - "aldose", - "carbohydrate homeostasis", - "increased level of chemical entity", - "kidney", - "Abnormality of urine calcium concentration", - "monoatomic entity", - "Organic aciduria", - "decreased level of potassium atom in blood", - "Chronic kidney disease", - "Stage 5 chronic kidney disease", - "polyatomic ion", - "purines", - "calcium atom", - "Hypokalemia", - "specifically dependent continuant", - "abnormal role independent continuant level", - "anatomical structure", - "Abnormality of the urinary system", - "Abnormality of blood and blood-forming tissues", - "peptide", - "Renal tubular acidosis", - "thoracic segment of trunk", - "Hypercalciuria", - "Decreased bone element mass density", - "abnormality of renal system physiology", - "organism subdivision", - "body proper", - "glucose homeostasis", - "decreased anatomical entity strength", - "Abnormal muscle physiology", - "abnormality of kidney physiology", - "s-block element atom", - "chalcogen molecular entity", - "cavitated compound organ", - "abnormal kidney", - "growth", - "Abnormality of the upper urinary tract", - "main body axis", - "alkali metal cation", - "abnormal role blood level", - "organic anion", - "Abnormal musculoskeletal physiology", - "abnormal independent continuant nitrogen molecular entity level", - "pair of lungs", - "Abnormal circulating carboxylic acid concentration", - "decreased level of carnitine in independent continuant", - "organic fundamental parent", - "alkali metal atom", - "abnormal homeostatic process", - "alkaline earth metal atom", - "Abnormal homeostasis", - "abnormal musculature", - "subdivision of trunk", - "abdomen element", - "Abnormal bone ossification", - "monocarboxylic acid metabolic process", - "carbohydrate metabolic process", - "Hypoglycemia", - "compound organ", - "Hypouricemia", - "primary metabolic process", - "ossification", - "Abnormal urine pH", - "abnormal anatomical entity morphology", - "lipid", - "decreased level of phosphate in independent continuant", - "carbohydrates and carbohydrate derivatives", - "muscle organ", - "increased level of calcium atom in urine", - "Abnormality of urine homeostasis", - "increased level of carboxylic acid in urine", - "multicellular organismal process", - "skeletal element", - "pnictogen molecular entity", - "Constitutional symptom", - "abnormal multicellular organism chemical entity level", - "carbon group molecular entity", - "Abnormality of metabolism/homeostasis", - "decreased level of purines", - "genitourinary system", - "abnormal independent continuant phosphate level", - "increased level of chemical entity in independent continuant", - "abnormal phosphate level", - "delayed growth", - "chemical entity", - "obsolete cellular aromatic compound metabolic process", - "abnormal urine uric acid level", - "bicyclic compound", - "phosphorus molecular entity", - "Abnormality of the skeletal system", - "abdominal segment of trunk", - "carbon oxoanion", - "abnormal bone element mass density", - "heterocyclic organic fundamental parent", - "Abnormality of bone mineral density", - "oxoacid derivative", - "main group molecular entity", - "abnormal genitourinary system", - "Abnormal circulating carnitine concentration", - "Abnormal bone structure", - "phosphate", - "Acidosis", - "delayed biological_process", - "Abnormal circulating carbohydrate concentration", - "phosphorus oxoacids and derivatives", - "organ part", - "Abnormality of the urinary system physiology", - "organic acid", - "Hyperuricosuria", - "viscus", - "heteroatomic molecular entity", - "occurrent", - "phosphorus oxoacid derivative", - "phosphoric acid derivative", - "musculature", - "oxopurine", - "Decreased plasma carnitine", - "abnormal chemical entity level", - "abnormal metabolic process", - "Reduced bone mineral density", - "carnitine", - "oxoacid metabolic process", - "abnormal hematopoietic system", - "abnormal urine phosphate level", - "abnormal blood monoatomic ion level", - "abnormal metabolite independent continuant level", - "respiration organ", - "abnormal calcium atom level", - "abnormality of muscle organ physiology", - "non-functional anatomical entity", - "abnormal respiratory system morphology", - "subdivision of organism along main body axis", - "carnitine metabolic process", - "Abnormal cellular phenotype", - "Abnormality of the musculature", - "Abnormal circulating purine concentration", - "abnormal mitochondrion", - "regulation of biological quality", - "abnormal phosphate ion homeostasis", - "abdomen", - "cellular_component", - "abnormal monoatomic ion homeostasis", - "Abnormal urine metabolite level", - "muscle structure", - "abnormal amino acid level", - "nucleobase-containing compound metabolic process", - "organic ion", - "organic cyclic compound metabolic process", - "entity", - "anatomical entity fibrosis", - "Aciduria", - "Osteomalacia", - "abnormal blood uric acid level", - "Growth delay", - "musculature of body", - "obsolete cell", - "Abnormal circulating monocarboxylic acid concentration", - "increased level of glucose in urine", - "organooxygen compound", - "quaternary nitrogen compound", - "Bone pain", - "main group element atom", - "uric acid", - "Phenotypic abnormality", - "potassium(1+)", - "metabolic process", - "abnormal urine chemical entity level", - "epithelial tube", - "respiratory airway", - "increased independent continuant base level", - "monoatomic ion homeostasis", - "organism substance", - "phenotype", - "abnormal renal system", - "carbonyl compound", - "nucleobase-containing small molecule metabolic process", - "multicellular anatomical structure", - "ammonium betaine", - "trunk", - "Abnormality of the genitourinary system", - "quality", - "continuant", - "Metabolic acidosis", - "Renal phosphate wasting", - "abnormal upper urinary tract", - "carboxylic acid anion", - "inorganic ion homeostasis", - "material entity", - "material anatomical entity", - "metal atom", - "multicellular organism", - "abnormality of anatomical entity physiology", - "anatomical entity", - "Abnormal skeletal morphology", - "decreased level of amino-acid betaine", - "Abnormal pulmonary interstitial morphology", - "monovalent inorganic cation", - "musculoskeletal system", - "non-functional kidney", - "abnormal anatomical entity", - "molecular entity", - "polyatomic anion", - "abnormal independent continuant sodium atom level", - "membrane-bounded organelle", - "trunk region element", - ], - }, - { - "id": "MONDO:0060779", - "category": "biolink:Disease", - "name": "acquired Fanconi syndrome", - "xref": ["NCIT:C78296", "SCTID:236467001", "UMLS:C0341702"], - "provided_by": "phenio_nodes", - "description": "Fanconi Syndrome caused by exposure to noxious agents.", - "synonym": ["acquired Fanconi syndrome"], - "namespace": "MONDO", - "has_phenotype_count": 0, - }, - { - "id": "MONDO:0060778", - "category": "biolink:Disease", - "name": "adult Fanconi syndrome", - "xref": ["NCIT:C4377"], - "provided_by": "phenio_nodes", - "description": "Probably related to a recessive gene, this is Fanconi Syndrome, characterized by adult onset.", - "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"], - "namespace": "MONDO", - "has_phenotype": ["HP:0003581"], - "has_phenotype_label": ["Adult onset"], - "has_phenotype_count": 1, - "has_phenotype_closure": ["HP:0012823", "HP:0003674", "HP:0000001", "HP:0003581", "HP:0031797"], - "has_phenotype_closure_label": [ - "All", - "Clinical course", - "Adult onset", - "Onset", - "Clinical modifier", - ], - }, - { - "id": "MONDO:0009217", - "category": "biolink:Disease", - "name": "Fanconi-like syndrome", - "xref": ["DOID:0090066", "MESH:C536855", "OMIM:227850", "SCTID:236469003", "UMLS:C0151638"], - "provided_by": "phenio_nodes", - "description": "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.", - "synonym": ["Fanconi-like syndrome"], - "namespace": "MONDO", - "has_phenotype": ["HP:0005939", "HP:0002754", "HP:0001876", "HP:0002783", "HP:0007606"], - "has_phenotype_label": [ - "Multiple bilateral pneumothoraces", - "Osteomyelitis", - "Pancytopenia", - "Recurrent lower respiratory tract infections", - "Multiple cutaneous malignancies", - ], - "has_phenotype_count": 5, - "has_phenotype_closure": [ - "UBERON:0004121", - "HP:0007606", - "HP:0008069", - "UBERON:0002097", - "UBERON:0002199", - "UBERON:0002416", - "UPHENO:0003811", - "HP:0011793", - "HP:0000951", - "HP:0011947", - "OBI:0100026", - "HP:0032101", - "UPHENO:0087339", - "CL:0002242", - "CL:0000219", - "UPHENO:0085302", - "HP:0001881", - "CL:0000329", - "UPHENO:0087123", - "UBERON:0002193", - "HP:0011842", - "UPHENO:0086173", - "HP:0001872", - "UPHENO:0085195", - "BFO:0000001", - "UPHENO:0086045", - "UPHENO:0011498", - "UBERON:0002390", - "HP:0025354", - "UPHENO:0006910", - "UPHENO:0086049", - "HP:0011875", - "UPHENO:0074685", - "UPHENO:0076703", - "UPHENO:0084987", - "UPHENO:0086172", - "UPHENO:0074624", - "UPHENO:0085371", - "HP:0011873", - "UPHENO:0085984", - "UBERON:0000025", - "HP:0001871", - "UPHENO:0088166", - "UPHENO:0085344", - "UPHENO:0076675", - "HP:0033127", - "CL:0002092", - "UPHENO:0049587", - "UPHENO:0086005", - "CL:0000764", - "HP:0005561", - "CL:0000763", - "UPHENO:0075696", - "CL:0000151", - "CL:0000457", - "UPHENO:0080662", - "UPHENO:0087355", - "HP:0002795", - "HP:0010978", - "CL:0000255", - "UPHENO:0080693", - "UPHENO:0002964", - "UBERON:0013701", - "HP:0010987", - "UBERON:0002204", - "UBERON:0013702", - "HP:0012145", - "UBERON:0002405", - "GO:0006952", - "GO:0008150", - "UPHENO:0076684", - "UPHENO:0074687", - "UPHENO:0001005", - "UPHENO:0049588", - "UPHENO:0059829", - "HP:0000924", - "UPHENO:0049586", - "UPHENO:0080377", - "UPHENO:0001003", - "HP:0002107", - "GO:0050896", - "UPHENO:0081440", - "UPHENO:0084928", - "UBERON:0009778", - "UBERON:0015203", - "GO:0006950", - "UPHENO:0002263", - "UBERON:0000072", - "HP:0002205", - "CL:0000233", - "UBERON:0001558", - "UBERON:0015212", - "GO:0006954", - "UBERON:0034923", - "HP:0002715", - "UPHENO:0082723", - "UBERON:0011216", - "NCBITaxon:33208", - "UPHENO:0085070", - "UBERON:0001474", - "NCBITaxon:1", - "NCBITaxon:131567", - "HP:0002783", - "UBERON:0000465", - "UBERON:0001004", - "UBERON:0000475", - "UPHENO:0001001", - "UBERON:0011676", - "UBERON:0000468", - "NCBITaxon:2759", - "HP:0032251", - "UPHENO:0077426", - "UBERON:0009569", - "PATO:0000001", - "CL:0000988", - "UPHENO:0015280", - "HP:0011893", - "UPHENO:0002332", - "UBERON:0000170", - "UBERON:0005906", - "UPHENO:0004536", - "UBERON:0004120", - "UBERON:0000479", - "UBERON:0000077", - "UPHENO:0002448", - "PR:000050567", - "UBERON:0004765", - "HP:0002103", - "HP:0002086", - "HP:0002719", - "UBERON:0000042", - "HP:0020047", - "UBERON:0001005", - "BFO:0000003", - "UPHENO:0054970", - "UBERON:0000062", - "UBERON:0005177", - "UPHENO:0085118", - "CL:0000458", - "HP:0002664", - "UPHENO:0086908", - "UPHENO:0020748", - "UPHENO:0081590", - "CL:0000232", - "UPHENO:0083263", - "UPHENO:0049584", - "HP:0011843", - "UBERON:0004111", - "UBERON:0005181", - "UPHENO:0076692", - "BFO:0000020", - "UPHENO:0085189", - "UPHENO:0001002", - "UBERON:0000977", - "UPHENO:0002948", - "BFO:0000015", - "CL:0001035", - "HP:0005939", - "CL:0000225", - "UPHENO:0002635", - "CL:0000000", - "HP:0001873", - "UBERON:0002048", - "UBERON:0001062", - "UBERON:0002371", - "UBERON:0000060", - "UBERON:0013522", - "UPHENO:0002536", - "UBERON:0001434", - "HP:0025461", - "UBERON:0005178", - "CL:0000081", - "UBERON:0004119", - "HP:0000001", - "UPHENO:0082682", - "NCBITaxon:33154", - "UPHENO:0082875", - "CL:0000738", - "UBERON:0000061", - "HP:0001876", - "UPHENO:0019970", - "UPHENO:0063722", - "HP:0000118", - "UBERON:0000171", - "BFO:0000004", - "HP:0002754", - "UBERON:0002100", - "UBERON:0000064", - "UPHENO:0085144", - "BFO:0000002", - "UBERON:0000467", - "UPHENO:0080221", - "UBERON:0002075", - "HP:0002088", - "HP:0012252", - "UBERON:0010000", - "UBERON:0000481", - "UBERON:0034925", - "UPHENO:0004459", - "NCBITaxon:6072", - "UPHENO:0087433", - "UBERON:0003103", - "UBERON:0000065", - "HP:0012647", - "HP:0001574", - "UBERON:0000915", - "UPHENO:0020584", - "UPHENO:0074572", - "HP:0012649", - "UPHENO:0085068", - "BFO:0000040", - ], - "has_phenotype_closure_label": [ - "integumental system", - "Neoplasm by anatomical site", - "Neoplasm", - "Abnormality of the skin", - "abnormal integument", - "abnormal respiratory system", - "ectoderm-derived structure", - "Eumetazoa", - "All", - "Multiple cutaneous malignancies", - "Neoplasm of the skin", - "abnormal skin of body", - "abnormal inflammatory response", - "Unusual infection", - "skeletal element", - "Abnormal cellular immune system morphology", - "abnormal platelet morphology", - "Abnormal platelet morphology", - "erythrocyte", - "myeloid cell", - "biogenic amine secreting cell", - "increased qualitatively biological_process", - "abnormal number of anatomical enitites of type cell", - "Abnormality of immune system physiology", - "abnormal response to stress", - "bone cell", - "bone marrow cell", - "abnormally decreased number of myeloid cell", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Abnormal cellular phenotype", - "nucleate cell", - "motile cell", - "oxygen accumulating cell", - "abnormal hematopoietic cell morphology", - "anucleate cell", - "secretory cell", - "eukaryotic cell", - "Recurrent infections", - "abnormal bone marrow cell morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "mixed endoderm/mesoderm-derived structure", - "Abnormality of bone marrow cell morphology", - "erythroid lineage cell", - "integument", - "abnormal number of anatomical enitites of type anatomical entity", - "biological_process", - "Abnormal myeloid cell morphology", - "abnormal immune system morphology", - "Abnormal lung morphology", - "Thrombocytopenia", - "Osteomyelitis", - "tissue", - "Abnormality of thrombocytes", - "hemolymphoid system", - "abnormal cell", - "abnormal hematopoietic system morphology", - "abnormal number of anatomical enitites of type platelet", - "anatomical structure", - "Abnormality of blood and blood-forming tissues", - "Abnormal leukocyte morphology", - "immune system", - "abnormal anatomical entity morphology", - "abnormal biological_process", - "increased inflammatory response in bone element", - "hematopoietic cell", - "skin of body", - "respiration organ", - "non-connected functional system", - "Respiratory tract infection", - "Abnormal musculoskeletal physiology", - "Abnormal immune system morphology", - "abnormal immune system", - "musculoskeletal system", - "abnormally decreased number of cell", - "increased biological_process in independent continuant", - "Abnormality of the musculoskeletal system", - "Abnormal skeletal morphology", - "Abnormal inflammatory response", - "Abnormal cell morphology", - "increased biological_process", - "abnormally decreased number of hematopoietic cell", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "phenotype by ontology source", - "abnormal response to stimulus", - "bone element", - "body proper", - "changed biological_process rate", - "Recurrent respiratory infections", - "abnormal phenotype by ontology source", - "thoracic cavity element", - "abnormality of musculoskeletal system physiology", - "cell", - "abnormal biological_process in independent continuant", - "Pneumothorax", - "organ system subdivision", - "increased qualitatively inflammatory response", - "proximo-distal subdivision of respiratory tract", - "Abnormal platelet count", - "anatomical entity", - "serotonin secreting cell", - "Abnormal pleura morphology", - "Abnormal leukocyte count", - "phenotype", - "hematopoietic system", - "blood cell", - "Opisthokonta", - "increased inflammatory response", - "subdivision of tube", - "continuant", - "inflammatory response", - "abnormality of immune system physiology", - "increased biological_process in bone element", - "material entity", - "abnormal blood cell morphology", - "organ", - "abnormal platelet", - "lower respiratory tract", - "organism subdivision", - "serous membrane", - "pleura", - "respiratory tract", - "anatomical conduit", - "increased qualitatively response to stimulus", - "pleural sac", - "endoderm-derived structure", - "organism", - "subdivision of organism along main body axis", - "abnormal bone marrow morphology", - "respiratory airway", - "viscus", - "abnormal blood cell", - "thoracic segment organ", - "response to stimulus", - "thoracic segment of trunk", - "leukocyte", - "organ part", - "response to stress", - "defense response", - "abnormal leukocyte morphology", - "abnormal pleura morphology", - "respiratory system", - "changed biological_process rate in independent continuant", - "Increased inflammatory response", - "abnormality of anatomical entity physiology", - "root", - "cellular organisms", - "multi-tissue structure", - "process", - "quality", - "anatomical system", - "platelet", - "Abnormality of the skeletal system", - "specifically dependent continuant", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal respiratory system morphology", - "subdivision of trunk", - "Metazoa", - "Abnormal respiratory system morphology", - "independent continuant", - "increased qualitatively biological_process in independent continuant", - "disconnected anatomical group", - "abnormal skeletal system", - "abnormal bone marrow cell", - "abnormal anatomical entity", - "Abnormality of the immune system", - "occurrent", - "abnormal skeletal system morphology", - "abnormality of respiratory system physiology", - "anatomical collection", - "trunk", - "multicellular anatomical structure", - "main body axis", - "Multiple bilateral pneumothoraces", - "abnormal myeloid cell morphology", - "lung", - "Pancytopenia", - "material anatomical entity", - "entity", - "increased qualitatively inflammatory response in independent continuant", - "abnormal cell morphology", - "trunk region element", - "mesoderm-derived structure", - "serous sac", - "Abnormality of the integument", - "compound organ", - "Abnormal respiratory system physiology", - "bone marrow", - "Eukaryota", - "abnormal number of anatomical enitites of type leukocyte", - "protein-containing material entity", - "Abnormality of the respiratory system", - "tube", - "abnormal hematopoietic system", - "abnormal lung morphology", - "skeletal system", - "abnormal anatomical entity morphology in the independent continuant", - "anatomical wall", - "lateral structure", - "increased inflammatory response in independent continuant", - "Recurrent lower respiratory tract infections", - "Phenotypic abnormality", - "abnormally decreased number of anatomical entity", - "abnormally decreased number of platelet", - "pair of lungs", - "multicellular organism", - ], - }, - { - "id": "MONDO:0001083", - "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome", - "xref": [ - "DOID:1062", - "GARD:9120", - "MESH:D005198", - "NANDO:2100027", - "NANDO:2200187", - "NCIT:C3034", - "SCTID:40488004", - "UMLS:C0015624", - ], - "provided_by": "phenio_nodes", - "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.", - "synonym": [ - "De toni-Fanconi syndrome", - "De toni-debre-Fanconi syndrome", - "Fanconi syndrome", - "Fanconi's syndrome", - "Fanconi-de toni syndrome", - "Fanconi-de-toni syndrome", - "Lignac-Fanconi syndrome", - "adult Fanconi syndrome", - "congenital Fanconi syndrome", - "deToni Fanconi syndrome", - "infantile nephropathic cystinosis", - "toni-debre-Fanconi syndrome", - ], - "namespace": "MONDO", - "has_phenotype_count": 0, - }, - { - "id": "MONDO:0013247", - "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 2", - "xref": ["DOID:0080758", "GARD:15655", "OMIM:613388", "UMLS:C3150652"], - "provided_by": "phenio_nodes", - "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.", - "synonym": [ - "FRTS2", - "Fanconi renotubular syndrome 2", - "Fanconi renotubular syndrome type 2", - "Fanconi syndrome caused by mutation in SLC34A1", - "SLC34A1 Fanconi syndrome", - ], - "namespace": "MONDO", - "has_phenotype": [ - "HP:0002749", - "HP:0000117", - "HP:0002148", - "HP:0000114", - "HP:0002757", - "HP:0002748", - "HP:0000938", - "HP:0002909", - "HP:0031415", - "HP:0000093", - "HP:0003076", - "HP:0003165", - "HP:0004322", - "HP:0002653", - "HP:0012213", - "HP:0002150", - "HP:0000083", - ], - "has_phenotype_label": [ - "Osteomalacia", - "Renal phosphate wasting", - "Hypophosphatemia", - "Proximal tubulopathy", - "Recurrent fractures", - "Rickets", - "Osteopenia", - "Generalized aminoaciduria", - "High serum calcitriol", - "Proteinuria", - "Glycosuria", - "Elevated circulating parathyroid hormone level", - "Short stature", - "Bone pain", - "Decreased glomerular filtration rate", - "Hypercalciuria", - "Renal insufficiency", - ], - "has_phenotype_count": 17, - "has_phenotype_closure": [ - "UPHENO:0086128", - "UPHENO:0082536", - "CHEBI:33521", - "UPHENO:0068102", - "UBERON:0001474", - "CHEBI:16646", - "HP:0000077", - "CHEBI:33250", - "HP:0011842", - "CHEBI:22984", - "CHEBI:33304", - "HP:0000002", - "UPHENO:0015280", - "UPHENO:0075195", - "HP:0002909", - "UPHENO:0068134", - "UPHENO:0080351", - "UPHENO:0020584", - "HP:0004322", - "HP:0001510", - "UPHENO:0082538", - "UPHENO:0081423", - "UPHENO:0002332", - "PR:000064867", - "CHEBI:33675", - "UPHENO:0068144", - "CHEBI:33241", - "HP:0012213", - "UPHENO:0051936", - "UPHENO:0069254", - "UBERON:0002193", - "HP:0430071", - "CHEBI:36080", - "UBERON:0001969", - "HP:0002152", - "HP:0000001", - "UPHENO:0051741", - "UBERON:0000468", - "HP:0002157", - "HP:0012337", - "UPHENO:0077826", - "UPHENO:0082534", - "UPHENO:0051648", - "UBERON:0001977", - "UPHENO:0068533", - "HP:0001948", - "HP:0003076", - "UPHENO:0068068", - "CHEBI:24431", - "PR:000013429", - "UPHENO:0046344", - "UPHENO:0051680", - "HP:0033405", - "GO:0040007", - "HP:0004360", - "CHEBI:18133", - "CHEBI:15693", - "UPHENO:0086132", - "UPHENO:0046362", - "UPHENO:0052116", - "CHEBI:33917", - "UPHENO:0051612", - "UPHENO:0051635", - "CHEBI:35381", - "HP:0011280", - "UPHENO:0080659", - "CHEBI:26082", - "UPHENO:0068442", - "HP:6000531", - "UPHENO:0051640", - "UPHENO:0068058", - "UBERON:0004120", - "UPHENO:0068054", - "GO:0008152", - "UPHENO:0051801", - "UPHENO:0068472", - "CHEBI:33839", - "CHEBI:64709", - "GO:0006629", - "HP:0025142", - "CHEBI:33256", - "CHEBI:37622", - "CHEBI:33709", - "UPHENO:0068565", - "UPHENO:0075696", - "CHEBI:16670", - "UPHENO:0002442", - "HP:0000093", - "HP:0004364", - "UPHENO:0049628", - "CHEBI:15841", - "UPHENO:0081440", - "HP:0000083", - "CHEBI:18059", - "UPHENO:0049873", - "HP:0012212", - "UBERON:0000064", - "HP:0020129", - "UPHENO:0081548", - "CHEBI:35352", - "UPHENO:0051864", - "HP:0003119", - "CHEBI:27136", - "UBERON:0015203", - "UPHENO:0051678", - "CHEBI:35341", - "UBERON:0000178", - "CHEBI:17234", - "UPHENO:0076286", - "UPHENO:0068064", - "HP:0031415", - "UPHENO:0082539", - "GO:0055062", - "CHEBI:27300", - "UPHENO:0084654", - "CHEBI:47042", - "CHEBI:17823", - "HP:0100530", - "GO:0006775", - "UPHENO:0081547", - "GO:0071704", - "CHEBI:35788", - "HP:0003077", - "UPHENO:0051712", - "UPHENO:0000541", - "HP:0003165", - "HP:0032369", - "HP:0032245", - "UPHENO:0068384", - "UPHENO:0080643", - "UPHENO:0049723", - "GO:0042359", - "GO:0044281", - "GO:0044238", - "CHEBI:16541", - "GO:0048878", - "CHEBI:33595", - "UPHENO:0076287", - "HP:0100529", - "CHEBI:33822", - "UPHENO:0076293", - "UPHENO:0078628", - "UPHENO:0003116", - "HP:0100511", - "UBERON:0000025", - "CHEBI:33832", - "CHEBI:33285", - "CHEBI:25367", - "HP:0100508", - "UPHENO:0081424", - "HP:0040156", - "CHEBI:35350", - "CHEBI:35605", - "CHEBI:36586", - "CHEBI:33674", - "UPHENO:0068089", - "UPHENO:0079536", - "HP:0002150", - "UBERON:0000061", - "UPHENO:0076289", - "UPHENO:0046281", - "CHEBI:33575", - "CHEBI:78616", - "CHEBI:50860", - "UPHENO:0068040", - "GO:1901360", - "CHEBI:73558", - "UPHENO:0081546", - "CHEBI:37577", - "UPHENO:0068091", - "UPHENO:0068491", - "UPHENO:0078554", - 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"UBERON:0005173", - "UBERON:0002417", - "HP:0012591", - "UBERON:0002100", - "UBERON:0000916", - "CHEBI:33318", - "UPHENO:0051847", - "UBERON:0006314", - "UPHENO:0066943", - "UBERON:0015204", - "UPHENO:0024906", - "UPHENO:0068313", - "UBERON:0004819", - "CHEBI:33559", - "CHEBI:24870", - "CHEBI:33259", - "PR:000050567", - "UPHENO:0034217", - "UPHENO:0068110", - "HP:0031980", - "CHEBI:23367", - "CHEBI:33238", - "UPHENO:0068251", - "UPHENO:0048763", - "UBERON:0005172", - "UPHENO:0051930", - "HP:0003355", - "UPHENO:0004459", - "UPHENO:0050080", - "UPHENO:0049587", - "HP:0002148", - "CHEBI:36853", - "CHEBI:26079", - "UPHENO:0051686", - "UPHENO:0051960", - "CHEBI:36963", - "UPHENO:0051804", - "UPHENO:0012541", - "PATO:0000001", - "UPHENO:0049874", - "HP:0000117", - "UPHENO:0052038", - "HP:0000938", - "UPHENO:0080638", - "UPHENO:0078589", - "UBERON:0004111", - "UPHENO:0034253", - "UPHENO:0051628", - "CHEBI:51958", - "UPHENO:0077821", - "UPHENO:0002964", - "CHEBI:72695", - "UPHENO:0001005", - "UPHENO:0082541", - "UPHENO:0068169", - "HP:0012531", - "UPHENO:0034351", - "GO:0001503", - "BFO:0000002", - "HP:0002659", - "UPHENO:0048711", - "UPHENO:0002642", - "UPHENO:0051900", - "HP:0001939", - "UBERON:0000467", - "UPHENO:0068047", - "HP:0011277", - "UBERON:0000174", - "UBERON:0001285", - "BFO:0000040", - "UPHENO:0049618", - "CHEBI:26020", - "UPHENO:0082540", - "UPHENO:0046348", - "HP:0033354", - "UPHENO:0081544", - "UPHENO:0051739", - "HP:0011843", - "UPHENO:0049904", - "UPHENO:0046286", - "HP:0032180", - "UBERON:0003914", - "PR:000000001", - "UBERON:0034923", - "UBERON:0002390", - "UBERON:0000179", - "HP:0003330", - "HP:0003110", - "UPHENO:0046284", - "GO:0042592", - "UPHENO:0051709", - "HP:0000079", - "HP:0012072", - "HP:0003111", - "CHEBI:36359", - "HP:0002653", - "UPHENO:0068538", - "UBERON:0013702", - "CHEBI:33302", - "UPHENO:0002832", - "UPHENO:0051668", - "HP:0000124", - "UBERON:0001008", - "UBERON:0000062", - "UPHENO:0079534", - "BFO:0000003", - "UPHENO:0080352", - "UPHENO:0051186", - "UPHENO:0002803", - "UPHENO:0082834", - "GO:0008202", - "UBERON:0000489", - "GO:0006766", - "GO:0098771", - "HP:0010876", - "PR:000018263", - "UBERON:0004765", - "CHEBI:33695", - "UBERON:0002204", - "UBERON:0007684", - "GO:0008150", - "UPHENO:0082835", - "HP:0004349", - "UPHENO:0084653", - "BFO:0000001", - "UPHENO:0082943", - "UBERON:0000465", - "CHEBI:24651", - "UPHENO:0066927", - "CHEBI:26191", - "CHEBI:33635", - "UPHENO:0068247", - "GO:0050801", - "GO:0032501", - "HP:0000924", - "UBERON:0001062", - "UPHENO:0068174", - "UBERON:0001088", - "UPHENO:0075902", - "UPHENO:0066739", - "UBERON:0004122", - "UBERON:0011216", - "HP:0004348", - "UPHENO:0068104", - "HP:0011849", - "GO:1901615", - "UBERON:0009773", - "BFO:0000020", - "UBERON:0000949", - "UPHENO:0051670", - "UPHENO:0075159", - "UPHENO:0076692", - "HP:0000118", - "UPHENO:0046291", - "UBERON:8450002", - "UPHENO:0002536", - "UPHENO:0051763", - "UBERON:0006555", - "CHEBI:33694", - "HP:0001992", - "UBERON:0001231", - "UPHENO:0001001", - "UPHENO:0051937", - "UPHENO:0082875", - "BFO:0000004", - "UPHENO:0080658", - "UBERON:0000475", - "CHEBI:50047", - "UBERON:0004211", - "BFO:0000015", - "UPHENO:0076285", - "UPHENO:0076703", - "HP:0000818", - ], - "has_phenotype_closure_label": [ - "non-functional anatomical entity", - "abnormal independent continuant calcium atom level", - "abnormal urine calcium atom level", - "s-block element atom", - "main group element atom", - "increased level of calcium atom in independent continuant", - "Hypercalciuria", - "Bone pain", - "decreased size of the multicellular organism", - "abnormal size of anatomical entity", - "Growth delay", - "Abnormality of body height", - "abnormal calcium atom level", - "decreased height of the multicellular organism", - "delayed biological_process", - "abnormal acid bodily fluid level", - "abnormal blood protein polypeptide chain level", - "Azotemia", - "Abnormality of acid-base homeostasis", - "increased level of protein in blood", - "Alkalosis", - "Elevated circulating parathyroid hormone level", - "biomacromolecule", - "abnormal blood nitrogen molecular entity level", - "protein", - "abnormal protein level", - "Hyperproteinemia", - "abnormal blood serum chemical entity level", - "increased blood serum base level", - "increased level of parathyroid hormone in blood", - "increased level of monosaccharide in independent continuant", - "glucose", - "aldohexose", - "Glycosuria", - "abnormal independent continuant glucose level", - "increased level of monosaccharide in urine", - "increased level of calcium atom in urine", - "carbohydrates and carbohydrate derivatives", - "Constitutional symptom", - "increased level of glucose in independent continuant", - "Abnormal urinary organic compound level", - "abnormal urine glucose level", - "Alkalemia", - "peptide", - "Abnormal urine protein level", - "increased level of protein polypeptide chain in independent continuant", - "primary amide", - "carboxamide", - "macromolecule", - "amide", - "abnormal independent continuant parathyroid hormone level", - "abnormal independent continuant protein polypeptide chain level", - "glandular system", - "increased level of chemical entity in blood", - "Abnormality of urine calcium concentration", - "Abnormal metabolism", - "Short stature", - "non-connected functional system", - "abnormal metabolite independent continuant level", - "calcitriol", - "seco-steroid", - "endocrine system", - "organic substance metabolic process", - "increased blood role level", - "vitamin metabolic process", - "Abnormal circulating organic amino compound concentration", - "lipid metabolic process", - "abnormal independent continuant lipid level", - "increased independent continuant hormone level", - "aldose", - "polypeptide", - "hydroxycalciol", - "fat-soluble vitamin metabolic process", - "vitamin D metabolic process", - "steroid metabolic process", - "abnormal growth", - "increased level of lipid in blood", - "cyclic compound", - "increased level of protein", - "triol", - "abnormal role bodily fluid level", - "abnormal role blood level", - "abnormal vitamin D level", - "abnormal vitamin metabolic process", - "Hyperlipidemia", - "organic hydroxy compound", - "organic cyclic compound", - "information biomacromolecule", - "increased bodily fluid role level", - "abnormal lipid metabolic process", - "abnormal hormone blood level", - "increased level of vitamin D", - "Renal insufficiency", - "increased level of chemical entity in urine", - "metal atom", - "Elevated urinary carboxylic acid", - "hydrogen molecular entity", - "delayed growth", - "Abnormal urine carboxylic acid level", - "decreased size of the anatomical entity in the independent continuant", - "increased level of chemical entity in blood serum", - "abnormal independent continuant carbohydrate level", - "amino acid", - "increased level of organic molecular entity in independent continuant", - "Abnormal glomerular filtration rate", - "increased level of organic acid in urine", - "Aminoaciduria", - "increased level of nitrogen molecular entity in independent continuant", - "atom", - "organic cyclic compound metabolic process", - "Abnormal urine metabolite level", - "monoatomic entity", - "increased independent continuant role level", - "protein-containing material entity", - "Generalized aminoaciduria", - "abnormal anatomical entity morphology in the independent continuant", - "organochalcogen compound", - "nitrogen molecular entity", - "increased blood serum role level", - "abnormal blood phosphate level", - "increased independent continuant acid level", - "heteroorganic entity", - "organonitrogen compound", - "abnormal role independent continuant level", - "abnormal blood lipid level", - "oxoacid", - "decreased height of the anatomical entity", - "organic oxo compound", - "increased level of glucose in urine", - "Abnormal circulating organic compound concentration", - "increased level of organic acid in independent continuant", - "Pain", - "increased level of amino acid in urine", - "Aciduria", - "Osteopenia", - "mesoderm-derived structure", - "increased level of carboxylic acid in independent continuant", - "vitamin D", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal independent continuant carboxylic acid level", - "Abnormal musculoskeletal physiology", - "nephron tubule", - "renal tubule", - "Abnormality of the skeletal system", - "uriniferous tubule", - "Increased susceptibility to fractures", - "phosphorus oxoacid derivative", - "epithelium", - "organic molecular entity", - "nephron", - "abnormal urine amino acid level", - "bone element", - "Abnormal urine pH", - "anatomical conduit", - "organism subdivision", - "epithelial tube", - "abnormality of kidney physiology", - "Abnormal renal physiology", - "oxygen molecular entity", - "Abnormality of the kidney", - "chalcogen molecular entity", - "cavitated compound organ", - "abnormal kidney", - "main body axis", - "subdivision of organism along main body axis", - "growth", - "hydroxides", - "Abnormality of the upper urinary tract", - "Abnormal homeostasis", - "increased independent continuant base level", - "excretory tube", - "upper urinary tract", - "Decreased anatomical entity mass density", - "abdomen element", - "compound organ", - "lateral structure", - "non-functional kidney", - "abnormally decreased functionality of the nephron tubule", - "Renal phosphate wasting", - "anatomical entity dysfunction in independent continuant", - "haemolymphatic fluid", - "hematopoietic system", - "primary metabolic process", - "ossification", - "abnormal anatomical entity morphology", - "abnormal biological_process", - "hydroxy seco-steroid", - "abnormal hormone independent continuant level", - "Hypophosphatemia", - "abnormal urine phosphate level", - "p-block molecular entity", - "abnormal hematopoietic system", - "bodily fluid", - "protein polypeptide chain", - "Abnormal blood ion concentration", - "abnormality of musculoskeletal system physiology", - "organic hydroxy compound metabolic process", - "abnormal blood chemical entity level", - "nephron epithelium", - "Abnormality of the endocrine system", - "abnormal independent continuant monoatomic ion level", - "multicellular anatomical structure", - "abnormal amino acid level", - "trunk", - "carbonyl compound", - "Abnormality of vitamin D metabolism", - "hemolymphoid system", - "alkaline earth metal atom", - "abnormal homeostatic process", - "abnormality of multicellular organism height", - "increased level of protein polypeptide chain in urine", - "increased level of calcitriol in blood", - "abnormal independent continuant chemical entity level", - "anatomical system", - "abnormal blood monoatomic ion level", - "anatomical entity", - "Abnormal skeletal morphology", - "decreased level of chemical entity in independent continuant", - "monoatomic ion", - "High serum calcitriol", - "anatomical structure", - "Abnormality of the urinary system", - "Abnormality of blood and blood-forming tissues", - "calcium atom", - "Recurrent fractures", - "material entity", - "inorganic ion homeostasis", - "Abnormal circulating nitrogen compound concentration", - "monosaccharide", - "Abnormal blood phosphate concentration", - "abnormal acid independent continuant level", - "abnormal chemical homeostasis", - "Abnormality of urine homeostasis", - "multicellular organismal process", - "skeletal element", - "increased level of parathyroid hormone in independent continuant", - "pnictogen molecular entity", - "abnormal metabolic process", - "abdomen", - "abnormal phosphate ion homeostasis", - "abnormal multicellular organism chemical entity level", - "excreta", - "increased bodily fluid base level", - "carbohydrate", - "abnormal endocrine system", - "abnormal role urine level", - "homeostatic process", - "Acute phase response", - "carbon group molecular entity", - "Abnormality of metabolism/homeostasis", - "decreased level of phosphate in blood", - "decreased level of chemical entity in blood", - "Abnormal urine phosphate concentration", - "increased level of lipid", - "urine", - "increased level of carboxylic acid in urine", - "organism substance", - "monoatomic ion homeostasis", - "amino acid chain", - "Organic aciduria", - "s-block molecular entity", - "genitourinary system", - "abnormal role blood serum level", - "Abnormality of the musculoskeletal system", - "increased level of calcitriol in independent continuant", - "chemical entity", - "abnormal independent continuant protein level", - "subdivision of trunk", - "elemental molecular entity", - "Abnormal urinary electrolyte concentration", - "abnormal independent continuant phosphate level", - "increased level of protein in independent continuant", - "tube", - "abnormal phosphate level", - "Proteinuria", - "phosphorus molecular entity", - "abdominal segment of trunk", - "Abnormality of bone mineral density", - "oxoacid derivative", - "Abnormal circulating calcium-phosphate regulating hormone concentration", - "phosphate", - "tissue", - "Reduced bone mineral density", - "abnormal chemical entity level", - "abnormal independent continuant amino acid level", - "phenotype", - "abnormal renal system", - "abnormally decreased functionality of the anatomical entity", - "kidney epithelium", - "main group molecular entity", - "abnormal genitourinary system", - "abdominal segment element", - "hexose", - "increased level of lipid in independent continuant", - "Abnormal bone structure", - "organ part", - "organic acid", - "heteroatomic molecular entity", - "D3 vitamins", - "ion", - "abnormality of renal system physiology", - "polyatomic entity", - "abnormal primary metabolic process", - "organic amino compound", - "abnormal vitamin D metabolic process", - "entity", - "Osteomalacia", - "molecule", - "occurrent", - "abnormal skeletal system morphology", - "organooxygen compound", - "Abnormal circulating lipid concentration", - "polyol", - "Renal tubular dysfunction", - "abnormal blood parathyroid hormone level", - "Phenotypic abnormality", - "metabolic process", - "carbon oxoacid", - "polycyclic compound", - "abnormal urine chemical entity level", - "increased level of parathyroid hormone in blood serum", - "abnormal phenotype by ontology source", - "Abnormality of the genitourinary system", - "Abnormal circulating hormone concentration", - "quality", - "process", - "abnormal lipid level", - "body proper", - "Abnormality of vitamin metabolism", - "All", - "abnormal anatomical entity mass density", - "continuant", - "abnormal blood plasma chemical entity level", - "Decreased bone element mass density", - "phosphate ion homeostasis", - "abnormal upper urinary tract", - "specifically dependent continuant", - "blood serum", - "organic polycyclic compound", - "abnormal bone element mass density", - "material anatomical entity", - "kidney", - "independent continuant", - "multicellular organism", - "abnormality of anatomical entity physiology", - "parathyroid hormone", - "Abnormal bone ossification", - "hydroxy steroid", - "Abnormality of the urinary system physiology", - "decreased size of the anatomical entity", - "musculoskeletal system", - "increased level of chemical entity in bodily fluid", - "phosphorus oxoacids and derivatives", - "organic molecule", - "abnormal small molecule metabolic process", - "carboxylic acid", - "phosphoric acid derivative", - "biological_process", - "Abnormal circulating protein concentration", - "increased level of chemical entity in independent continuant", - "skeletal system", - "increased level of nitrogen molecular entity in blood", - "Abnormal circulating metabolite concentration", - "increased level of chemical entity", - "increased level of amino acid in independent continuant", - "abnormality of anatomical entity height", - "excretory system", - "abnormal size of multicellular organism", - "small molecule metabolic process", - "renal system", - "abnormal skeletal system", - "steroid", - "phenotype by ontology source", - "abnormal monoatomic ion homeostasis", - "blood plasma", - "chemical homeostasis", - "abnormal anatomical entity", - "increased level of chemical entity in blood plasma", - "Rickets", - "protein-containing molecular entity", - "disconnected anatomical group", - "molecular entity", - "Proximal tubulopathy", - "organ", - "Decreased glomerular filtration rate", - "blood", - "organ system subdivision", - "Growth abnormality", - "lipid", - "decreased level of phosphate in independent continuant", - "trunk region element", - "decreased level of chemical entity", - ], - }, - { - "id": "MONDO:0100238", - "category": "biolink:Disease", - "name": "inherited Fanconi renotubular syndrome", - "xref": ["OMIMPS:134600"], - "provided_by": "phenio_nodes", - "description": "An instance of Fanconi renotubular syndrome that is inherited.", - "synonym": ["hereditary Fanconi renotubular syndrome"], - "namespace": "MONDO", - "has_phenotype_count": 0, - }, - { - "id": "MONDO:0030056", - "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 5", - "xref": ["DOID:0080761", "GARD:16392", "OMIM:618913"], - "provided_by": "phenio_nodes", - "synonym": [ - "FANCONI RENOTUBULAR SYNDROME 5", - "FRTS5", - "Fanconi Renotubular Syndrome, Acadian Variant", - "Fanconi renotubular syndrome 5", - ], - "namespace": "MONDO", - "has_phenotype": [ - "HP:0002148", - "HP:0002206", - "HP:0004912", - "HP:0002857", - "HP:0004918", - "HP:0045051", - "HP:0000093", - "HP:0003076", - "HP:0002097", - "HP:0003355", - "HP:0005576", - "HP:0003774", - "HP:0000822", - "HP:0030078", - ], - "has_phenotype_label": [ - "Hypophosphatemia", - "Pulmonary fibrosis", - "Hypophosphatemic rickets", - "Genu valgum", - "Hyperchloremic metabolic acidosis", - "Decreased DLCO", - "Proteinuria", - "Glycosuria", - "Emphysema", - "Aminoaciduria", - "Tubulointerstitial fibrosis", - "Stage 5 chronic kidney disease", - "Hypertension", - "Lung adenocarcinoma", - ], - "has_phenotype_count": 14, - "has_phenotype_closure": [ - "HP:0011793", - "UBERON:0004537", - "HP:0000822", - "HP:0012072", - "UBERON:0001558", - "UBERON:0000477", - "UPHENO:0052116", - "UPHENO:0086132", - "UPHENO:0002411", - "CHEBI:24867", - "HP:0012211", - "UBERON:0002049", - "HP:0003774", - "UPHENO:0076779", - "UBERON:0005172", - "UBERON:0002113", - "UBERON:0001981", - "UBERON:0013701", - "UBERON:0011143", - "UBERON:0000483", - "UBERON:0001231", - "UPHENO:0087427", - "UPHENO:0087993", - "UBERON:0003914", - "HP:0002664", - "HP:0001969", - "HP:0010935", - "HP:0000091", - "UBERON:0006555", - "UBERON:0000026", - "UBERON:0007684", - "HP:0012575", - "UBERON:0002417", - "CHEBI:25367", - "CHEBI:35605", - "CHEBI:36586", - "CHEBI:33674", - "HP:0032581", - "CHEBI:33575", - "UPHENO:0068040", - "UPHENO:0068565", - "CHEBI:33709", - "UPHENO:0051930", - "HP:0001992", - "UPHENO:0078554", - "UPHENO:0068491", - "BFO:0000001", - "UBERON:0003823", - "UPHENO:0002406", - "CHEBI:24651", - "UPHENO:0001002", - "CHEBI:24833", - "HP:0000083", - "CHEBI:16646", - "UPHENO:0076299", - "UBERON:0001474", - "HP:0000077", - "UPHENO:0002896", - "UPHENO:0068495", - "UPHENO:0004459", - "HP:0003355", - "CHEBI:18133", - "UBERON:0000178", - "UPHENO:0076767", - "CHEBI:17234", - "CHEBI:35381", - "UPHENO:0080659", - "UBERON:0010707", - "HP:6000531", - "UPHENO:0051640", - "UPHENO:0068058", - "UBERON:0004120", - "UPHENO:0068054", - "CHEBI:33285", - "UBERON:0005173", - "CHEBI:36962", - "CHEBI:32988", - "HP:0012252", - "UPHENO:0080362", - "CHEBI:33839", - "UPHENO:0051739", - "UPHENO:0081544", - "HP:0030078", - "CHEBI:37622", - "UBERON:0004211", - "CHEBI:50047", - "CHEBI:78616", - "HP:0001941", - "CHEBI:50860", - "UPHENO:0002642", - "UPHENO:0002442", - "HP:0000093", - "UBERON:0000174", - "CHEBI:25806", - "UBERON:0001088", - "UPHENO:0049628", - "CHEBI:15841", - "HP:0012210", - "HP:0011842", - "CHEBI:33304", - "UBERON:0001008", - "UPHENO:0051670", - "UBERON:0013702", - "UPHENO:0068538", - "HP:0045051", - "HP:0030878", - "HP:0004918", - "UPHENO:0068089", - "UPHENO:0079536", - "UBERON:0000061", - "UPHENO:0031193", - "UPHENO:0076289", - "UPHENO:0068064", - "UBERON:0000468", - "HP:0012337", - "UPHENO:0081547", - "HP:0001942", - "HP:0001995", - "CHEBI:37577", - "UBERON:0010912", - "UPHENO:0068091", - "UPHENO:0081546", - "UPHENO:0051668", - "UPHENO:0002832", - "UBERON:0001009", - "HP:0004360", - "UPHENO:0051709", - "HP:0000079", - "HP:0002206", - "RO:0002577", - "UPHENO:0086128", - "UBERON:0000154", - "UPHENO:0041258", - "UBERON:0005055", - "UBERON:0002513", - "CHEBI:33256", - "UBERON:0004708", - "HP:0100606", - "HP:0005576", - "UPHENO:0086780", - "UPHENO:0041098", - "UPHENO:0080658", - "UPHENO:0041610", - "HP:0011277", - "UBERON:0010740", - "UBERON:0010758", - "UPHENO:0087462", - "UPHENO:0002885", - "HP:0003330", - "HP:0002979", - "UBERON:0004122", - "HP:0006487", - "HP:0011314", - "CHEBI:16541", - "UPHENO:0084763", - "UPHENO:0086628", - "CHEBI:33238", - "UBERON:0010363", - "UPHENO:0076740", - "UBERON:0003840", - "UPHENO:0048707", - "UBERON:0002471", - "UBERON:0010000", - "UBERON:0008784", - "UBERON:0000982", - "UBERON:0000916", - "UPHENO:0049904", - "UBERON:0000978", - "UPHENO:0003070", - "UBERON:0002075", - "HP:0001367", - "HP:0000940", - "HP:0002597", - "CHEBI:72695", - "HP:0032180", - "UPHENO:0082129", - "UPHENO:0041536", - "HP:0002814", - "UPHENO:0086635", - "UPHENO:0075945", - "UBERON:0000475", - "UBERON:0001004", - "UBERON:0004709", - "UBERON:0004770", - "UPHENO:0084654", - "UBERON:0004381", - "HP:0002748", - "UPHENO:0086956", - "UPHENO:0066739", - "UBERON:0001465", - "UBERON:0002091", - "CHEBI:15693", - "UBERON:0010538", - "HP:0011025", - "UBERON:0002390", - "UBERON:0034923", - "UPHENO:0068144", - "CHEBI:33675", - "CHEBI:33241", - "GO:0008150", - "UBERON:0015061", - "UPHENO:0051763", - "UPHENO:0002536", - "UBERON:0001434", - "UBERON:0005913", - "UBERON:0004819", - "UBERON:0006058", - "UPHENO:0076294", - "UBERON:0004288", - "UBERON:0000171", - "UBERON:0010709", - "UPHENO:0080300", - "UBERON:0004905", - "HP:0001626", - "UBERON:0000179", - "UBERON:0034944", - "GO:0008152", - "UPHENO:0051801", - "HP:0002815", - "CHEBI:64709", - "UPHENO:0041591", - "UPHENO:0082834", - "UBERON:0002204", - "UPHENO:0068247", - "HP:0040068", - "GO:0050801", - "HP:0100491", - "GO:0032501", - "CHEBI:35352", - "HP:0000924", - "HP:0004348", - "BFO:0000002", - "GO:0001503", - "UPHENO:0086908", - "UBERON:0002428", - "HP:0004349", - "UPHENO:0084653", - "CHEBI:51143", - "HP:0004912", - "UPHENO:0076703", - "CHEBI:36357", - "UBERON:0002048", - "CHEBI:36587", - "UPHENO:0002803", - "UPHENO:0002332", - "UPHENO:0076727", - "UPHENO:0031310", - "UPHENO:0075696", - "CHEBI:16670", - "UBERON:0000072", - "UPHENO:0082449", - "HP:0032943", - "HP:0033127", - "HP:0030358", - "UBERON:0015212", - "HP:0045049", - "UPHENO:0079873", - "GO:0048878", - "HP:0034669", - "UBERON:0002101", - "UBERON:0009569", - "UBERON:0011676", - "CHEBI:33917", - "HP:0002795", - "UPHENO:0051635", - "HP:0040064", - "UPHENO:0015280", - "UPHENO:0082875", - "UBERON:0005178", - "UBERON:0004535", - "CHEBI:36360", - "HP:0000119", - "UPHENO:0004536", - "HP:0033354", - "UPHENO:0076714", - "UBERON:0005177", - "UBERON:0002529", - "UBERON:0004765", - "UBERON:0001005", - "HP:0001871", - "UBERON:0000025", - "UPHENO:0082835", - "UBERON:0003103", - "HP:0030972", - "UBERON:0004375", - "UPHENO:0001003", - "UBERON:0000463", - "CHEBI:33579", - "UPHENO:0019970", - "UPHENO:0020748", - "UBERON:0000170", - "HP:0040156", - "HP:0003110", - "UPHENO:0046284", - "UPHENO:0087433", - "UPHENO:0082542", - "HP:0002086", - "UBERON:0011249", - "UBERON:0000489", - "UPHENO:0051686", - "UPHENO:0051960", - "CHEBI:26079", - "HP:0002088", - "UBERON:0000065", - "UPHENO:0002678", - "UPHENO:0081548", - "UBERON:0000064", - "HP:0020129", - "UBERON:0034925", - "UPHENO:0020584", - "UBERON:0034921", - "UPHENO:0076692", - "UBERON:0005181", - "UBERON:0011582", - "UBERON:0000915", - "CHEBI:24870", - "HP:0003076", - "UPHENO:0041573", - "BFO:0000003", - "HP:0006530", - "HP:0100526", - "UBERON:0004119", - "GO:0055062", - "UPHENO:0077821", - "UBERON:0000055", - "UPHENO:0002964", - "UPHENO:0068169", - "UPHENO:0082543", - "CHEBI:24431", - "UPHENO:0002448", - "PR:000050567", - "UBERON:0000062", - "GO:0042592", - "UPHENO:0075952", - "CHEBI:33608", - "UBERON:0003657", - "UPHENO:0034391", - "UBERON:0000075", - "UBERON:0004111", - "UPHENO:0034253", - "PATO:0000001", - "HP:0031980", - "UPHENO:0068110", - "HP:0100529", - "HP:0011844", - "CHEBI:23367", - "UPHENO:0041226", - "UPHENO:0034351", - "UBERON:0010712", - "UPHENO:0082538", - "CHEBI:33582", - "HP:0002981", - "UBERON:0002100", - "UPHENO:0050080", - "UPHENO:0051847", - "UBERON:0006314", - "HP:0003111", - "CHEBI:36359", - "UBERON:0002193", - "CHEBI:33259", - "HP:0011849", - "UBERON:0009773", - "UBERON:0002103", - "GO:0098771", - "UPHENO:0049587", - "HP:0002148", - "CHEBI:36963", - "UPHENO:0051804", - "UBERON:0002495", - "UBERON:0013522", - "UPHENO:0082539", - "BFO:0000015", - "UBERON:0001062", - "BFO:0000020", - "CHEBI:26082", - "HP:0002097", - "UPHENO:0034217", - "UPHENO:0001005", - "HP:0001939", - "UBERON:8450002", - "UPHENO:0077858", - "HP:0002813", - "CHEBI:26020", - "BFO:0000040", - "HP:0002857", - "UPHENO:0046348", - "UPHENO:0046286", - "UPHENO:0051937", - "UPHENO:0001001", - "UBERON:0000467", - "UPHENO:0020041", - "HP:0030760", - "BFO:0000004", - "UBERON:0011216", - "HP:0012622", - "UPHENO:0084767", - "UBERON:0000465", - "UPHENO:0076756", - "HP:0032263", - "CHEBI:33302", - "UBERON:0004769", - "UPHENO:0002830", - "UPHENO:0051186", - "UPHENO:0081550", - "UBERON:0007798", - "UPHENO:0082467", - "UBERON:0000479", - "HP:0000118", - "UBERON:0001285", - "UPHENO:0075902", - "HP:0000001", - ], - "has_phenotype_closure_label": [ - "Non-small cell lung carcinoma", - "Neoplasm of the respiratory system", - "Neoplasm of the lung", - "vasculature", - "cardiovascular system", - "abnormal leg", - "blood vessel", - "lower respiratory tract", - "abnormal biological_process", - "glucose", - "Abnormality of the cardiovascular system", - "thoracic segment of trunk", - "peptide", - "vascular system", - "Hypertension", - "Abnormal systemic blood pressure", - "Stage 5 chronic kidney disease", - "Organic aciduria", - "Chronic kidney disease", - "Lung adenocarcinoma", - "non-functional kidney", - "non-functional anatomical entity", - "increased level of chemical entity in bodily fluid", - "carbon oxoacid", - "nephron tubule", - "nephron epithelium", - "abnormal upper urinary tract", - "nephron", - "Abnormality of limb bone morphology", - "respiratory airway", - "epithelial tube", - "kidney epithelium", - "Abnormal renal tubule morphology", - "increased level of monosaccharide in independent continuant", - "blood vasculature", - "abdominal segment element", - "abnormal phenotype by ontology source", - "abnormal nephron morphology", - "abnormal kidney", - "Abnormality of limbs", - "Abnormal renal morphology", - "kidney", - "zone of long bone", - "abnormal renal system morphology", - "abnormal kidney morphology", - "Elevated urinary carboxylic acid", - "abnormal independent continuant carboxylic acid level", - "Renal insufficiency", - "increased level of organic acid in urine", - "Abnormality of the upper urinary tract", - "chemical homeostasis", - "hydroxides", - "organic molecule", - "molecule", - "oxoacid", - "increased independent continuant acid level", - "organic oxo compound", - "elemental molecular entity", - "Emphysema", - "Abnormality of the vasculature", - "aldohexose", - "skeleton", - "Glycosuria", - "Pulmonary fibrosis", - "skeletal system", - "upper urinary tract", - "increased level of organic acid in independent continuant", - "organooxygen compound", - "increased level of glucose in urine", - "hindlimb", - "Abnormal renal insterstitial morphology", - "abnormal urine glucose level", - "Abnormality of urine homeostasis", - "increased level of chemical entity in urine", - "cavitated compound organ", - "chalcogen molecular entity", - "renal system", - "phenotype by ontology source", - "excreta", - "abnormal cardiovascular system", - "organic acid", - "articulation", - "Abnormality of the urinary system physiology", - "increased level of organic molecular entity in independent continuant", - "abnormal vasculature", - "abnormal urine chemical entity level", - "Abnormal urine metabolite level", - "s-block molecular entity", - "genitourinary system", - "excretory system", - "increased level of protein polypeptide chain in independent continuant", - "abnormal genitourinary system", - "primary amide", - "carboxamide", - "organic amino compound", - "Abnormal cardiovascular system physiology", - "organic molecular entity", - "Decreased bone element mass density", - "organism subdivision", - "abnormality of renal system physiology", - "organ", - "heteroorganic entity", - "amide", - "organonitrogen compound", - "Abnormal urinary organic compound level", - "Decreased DLCO", - "renal tubule", - "Abnormality on pulmonary function testing", - "limb endochondral element", - "abnormal acid bodily fluid level", - "increased level of amino acid in independent continuant", - "increased level of chemical entity", - "oxygen molecular entity", - "Abnormality of acid-base homeostasis", - "excretory tube", - "monoatomic ion homeostasis", - "increased independent continuant base level", - "Abnormal homeostasis", - "increased level of protein polypeptide chain in urine", - "abnormal role bodily fluid level", - "Metabolic acidosis", - "zone of bone organ", - "increased bodily fluid role level", - "abnormal independent continuant glucose level", - "Hyperchloremic metabolic acidosis", - "subdivision of organism along appendicular axis", - "amino acid", - "abnormal skeletal system morphology", - "abnormal independent continuant carbohydrate level", - "bone of free limb or fin", - "paired limb/fin skeleton", - "abnormal anatomical entity", - "paired limb/fin", - "Abnormal appendicular skeleton morphology", - "abnormal hindlimb joint", - "Aciduria", - "zone of organ", - "pelvic appendage", - "lateral structure", - "limb", - "Increased blood pressure", - "Hyperchloremic acidosis", - "Bowing of the long bones", - "Abnormality of lower limb joint", - "Abnormal joint morphology", - "carboxylic acid", - "curved hindlimb zeugopod", - "endochondral element", - "abnormal kidney epithelium morphology", - "limb bone", - "thoracic cavity element", - "limb joint", - "Abnormality of the kidney", - "abnormal diaphysis morphology in the independent continuant", - "Abnormal diaphysis morphology", - "Abnormality of the skeletal system", - "abdominal segment of trunk", - "abnormal limb", - "posterior region of body", - "increased level of nitrogen molecular entity in independent continuant", - "Abnormality of the knee", - "system", - "macromolecule", - "Bowing of the legs", - "Abnormal knee morphology", - "abnormal knee morphology", - "entity", - "zeugopod", - "lower limb segment", - "abnormal long bone morphology", - "abnormality of kidney physiology", - "knee", - "abnormal bone element mass density", - "Abnormality of bone mineral density", - "limb skeleton subdivision", - "Abnormality of the genitourinary system", - "pelvic complex", - "Abnormal respiratory system physiology", - "epithelium", - "Decreased anatomical entity mass density", - "hexose", - "Abnormal bone structure", - "monosaccharide", - "abnormal hindlimb morphology", - "oxoacid derivative", - "abnormal independent continuant phosphate level", - "pair of lungs", - "abnormal diaphysis morphology", - "curved anatomical entity in independent continuant", - "diaphysis", - "articular system", - "endochondral bone", - "hydrogen molecular entity", - "abnormal appendicular skeleton morphology", - "abnormal skeletal joint morphology", - "abnormality of respiratory system physiology", - "Abnormality of limb bone", - "abnormal knee", - "independent continuant", - "Genu valgum", - "abnormal independent continuant chemical entity level", - "Abnormal respiratory system morphology", - "curved anatomical entity", - "subdivision of trunk", - "abdomen element", - "abnormal hindlimb zeugopod", - "abnormal hindlimb zeugopod, curved", - "phosphate ion homeostasis", - "abnormal anatomical entity, curved", - "musculoskeletal system", - "Abnormal urine pH", - "abnormal anatomical entity morphology", - "ossification", - "appendage girdle complex", - "limb segment", - "shape anatomical entity", - "Abnormality of the musculoskeletal system", - "Hypophosphatemic rickets", - "curvature anatomical entity", - "Abnormal lung morphology", - "lung fibrosis", - "hindlimb joint", - "anatomical cluster", - "specifically dependent continuant", - "abnormal role independent continuant level", - "protein-containing material entity", - "biological_process", - "subdivision of skeleton", - "abnormal phosphate level", - "increased level of chemical entity in independent continuant", - "abnormal chemical entity level", - "Reduced bone mineral density", - "Abnormality of the respiratory system", - "abnormal skeletal system", - "appendicular skeleton", - "All", - "abnormal anatomical entity mass density", - "abnormal urine amino acid level", - "bone element", - "body proper", - "proximo-distal subdivision of respiratory tract", - "aldose", - "abnormal respiratory system", - "polypeptide", - "Abnormal pulmonary interstitial morphology", - "circulatory system", - "abnormal role urine level", - "subdivision of skeletal system", - "respiratory tract", - "Hypophosphatemia", - "anatomical conduit", - "appendicular skeletal system", - "abnormal independent continuant nitrogen molecular entity level", - "thoracic segment organ", - "anatomical entity", - "abnormal independent continuant protein polypeptide chain level", - "urine", - "Abnormal renal physiology", - "respiratory system", - "increased level of amino acid in urine", - "abnormal anatomical entity morphology in the appendage girdle complex", - "anatomical collection", - "abnormal hindlimb zeugopod morphology", - "increased level of glucose in independent continuant", - "abnormal limb morphology", - "Abnormal tubulointerstitial morphology", - "main body axis", - "skeletal element", - "curved long bone", - "abnormal respiratory system morphology", - "subdivision of organism along main body axis", - "long bone", - "Abnormal bone ossification", - "lung", - "p-block molecular entity", - "abnormal hematopoietic system", - "abnormal lung morphology", - "abnormal limb bone", - "abnormality of anatomical entity physiology", - "phosphorus oxoacid derivative", - "occurrent", - "decreased level of chemical entity", - "trunk region element", - "shape long bone", - "Abnormality of the calf", - "Abnormal skeletal morphology", - "Tubulointerstitial fibrosis", - "decreased level of chemical entity in independent continuant", - "monoatomic ion", - "paired limb/fin segment", - "abnormality of cardiovascular system physiology", - "abnormal monoatomic ion homeostasis", - "carbohydrate", - "homeostatic process", - "carbon group molecular entity", - "Abnormality of metabolism/homeostasis", - "protein polypeptide chain", - "Abnormal blood ion concentration", - "Neoplasm", - "abnormal blood phosphate level", - "curvature anatomical entity in independent continuant", - "Abnormal circulating metabolite concentration", - "Proteinuria", - "abnormal independent continuant amino acid level", - "abnormal renal system", - "phenotype", - "Rickets", - "disconnected anatomical group", - "molecular entity", - "abnormal blood chemical entity level", - "carbohydrates and carbohydrate derivatives", - "bone of appendage girdle complex", - "chemical entity", - "increased independent continuant role level", - "decreased level of chemical entity in blood", - "decreased level of phosphate in blood", - "increased level of carboxylic acid in urine", - "multicellular organismal process", - "pnictogen molecular entity", - "multi-limb segment region", - "leg", - "tube", - "abnormal metabolite independent continuant level", - "respiration organ", - "heteroatomic molecular entity", - "viscus", - "organism substance", - "Abnormal urine protein level", - "abnormal shape of continuant", - "abnormal multicellular organism chemical entity level", - "skeletal joint", - "Abnormal urine carboxylic acid level", - "endoderm-derived structure", - "phosphorus molecular entity", - "Abnormality of the urinary system", - "Abnormality of blood and blood-forming tissues", - "anatomical structure", - "abnormal independent continuant monoatomic ion level", - "monoatomic entity", - "shape anatomical entity in independent continuant", - "uriniferous tubule", - "quality", - "organ system subdivision", - "process", - "abnormal blood monoatomic ion level", - "anatomical system", - "abnormal nephron tubule morphology", - "abnormal amino acid level", - "carbonyl compound", - "Acidosis", - "trunk", - "multicellular anatomical structure", - "hemolymphoid system", - "Renal fibrosis", - "abnormal anatomical entity morphology in the pelvic complex", - "hindlimb zeugopod", - "bodily fluid", - "Neoplasm by anatomical site", - "Abnormal DLCO", - "continuant", - "abnormal homeostatic process", - "skeleton of limb", - "decreased level of phosphate in independent continuant", - "multi organ part structure", - "Abnormal long bone morphology", - "vessel", - "metabolic process", - "Phenotypic abnormality", - "increased level of monosaccharide in urine", - "haemolymphatic fluid", - "abnormal acid independent continuant level", - "abnormal chemical homeostasis", - "subdivision of tube", - "hematopoietic system", - "phosphorus oxoacids and derivatives", - "organ part", - "shape hindlimb zeugopod", - "blood", - "increased level of carboxylic acid in independent continuant", - "mesoderm-derived structure", - "increased bodily fluid acid level", - "tissue", - "phosphate", - "abdomen", - "abnormal phosphate ion homeostasis", - "Abnormal blood phosphate concentration", - "organochalcogen compound", - "nitrogen molecular entity", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal limb bone morphology", - "polyatomic entity", - "ion", - "main group molecular entity", - "multicellular organism", - "phosphoric acid derivative", - "Aminoaciduria", - "anatomical entity fibrosis", - "Abnormal nephron morphology", - "material entity", - "inorganic ion homeostasis", - "appendage", - "material anatomical entity", - "Abnormality of the lower limb", - "compound organ", - ], - }, - { - "id": "MONDO:0014275", - "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 3", - "xref": ["DOID:0080759", "GARD:15991", "OMIM:615605", "UMLS:C3810100"], - "provided_by": "phenio_nodes", - "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.", - "synonym": [ - "EHHADH Fanconi syndrome", - "FRTS3", - "Fanconi renotubular syndrome 3", - "Fanconi renotubular syndrome type 3", - "Fanconi syndrome caused by mutation in EHHADH", - ], - "namespace": "MONDO", - "has_phenotype": [ - "HP:0001510", - "HP:0003259", - "HP:0001942", - "HP:0003109", - "HP:0002748", - "HP:0002979", - "HP:0003076", - "HP:0000083", - "HP:0004322", - "HP:0003355", - "HP:0003126", - ], - "has_phenotype_label": [ - "Growth delay", - "Elevated circulating creatinine concentration", - "Metabolic acidosis", - "Hyperphosphaturia", - "Rickets", - "Bowing of the legs", - "Glycosuria", - "Renal insufficiency", - "Short stature", - "Aminoaciduria", - "Low-molecular-weight proteinuria", - ], - "has_phenotype_count": 11, - "has_phenotype_closure": [ - "UPHENO:0051801", - "UPHENO:0068565", - "HP:0000093", - "CHEBI:15841", - "HP:0040156", - "CHEBI:35605", - "CHEBI:36586", - "CHEBI:50047", - "CHEBI:33575", - "CHEBI:33709", - "UPHENO:0051930", - "HP:0001992", - "HP:0003355", - "HP:0000002", - "UPHENO:0075195", - "UPHENO:0080351", - "HP:0004322", - "UPHENO:0081423", - "UPHENO:0080352", - "UBERON:0011676", - "UPHENO:0086132", - "UPHENO:0086128", - "UBERON:0005172", - "UBERON:0002113", - "UBERON:0011143", - "UBERON:0003103", - "UPHENO:0002411", - "HP:0012211", - "HP:0010935", - "UBERON:0000489", - "UBERON:0002417", - "CHEBI:18133", - "UPHENO:0052116", - "CHEBI:33917", - "UPHENO:0051739", - "UPHENO:0081544", - "CHEBI:35381", - "UPHENO:0080659", - "UPHENO:0068058", - "HP:6000531", - "HP:0033354", - "UPHENO:0068054", - "UBERON:0015212", - "RO:0002577", - "UPHENO:0002896", - "UBERON:0000154", - "UPHENO:0069254", - "UPHENO:0041258", - "UPHENO:0031193", - "UPHENO:0015280", - "UBERON:0005055", - "HP:0003126", - "UBERON:0002513", - "UBERON:0010707", - "UPHENO:0086780", - "UBERON:0002495", - "UBERON:0010740", - "UBERON:0010758", - "UPHENO:0051635", - "HP:0040064", - "HP:0002979", - "HP:0011314", - "CHEBI:16541", - "UPHENO:0084763", - "UPHENO:0086628", - "HP:0002981", - "UBERON:0008784", - "UBERON:0000075", - "UBERON:0000916", - "UBERON:0000978", - "UPHENO:0003070", - "UBERON:0013701", - "HP:0002814", - "UPHENO:0086635", - "UBERON:0000475", - "UBERON:0004709", - "UBERON:0009569", - "UBERON:0002101", - "UBERON:0004769", - "UPHENO:0002830", - "UPHENO:0020041", - "UPHENO:0079873", - "UBERON:0003823", - "UBERON:0002091", - "UPHENO:0082542", - "UBERON:0010712", - "UBERON:0011249", - "CHEBI:15693", - "UBERON:0010538", - "UBERON:0002428", - "UBERON:0002103", - "HP:0002157", - "UBERON:0011582", - "UPHENO:0082129", - "UBERON:0010709", - "UPHENO:0080300", - "CHEBI:64709", - "UPHENO:0041591", - "UPHENO:0082835", - "UPHENO:0046284", - "CHEBI:38261", - "HP:0003110", - "HP:0003330", - "CHEBI:35352", - "HP:0000924", - "HP:0004348", - "BFO:0000002", - "GO:0008152", - "GO:0001503", - "HP:0004349", - "UPHENO:0084653", - "UPHENO:0086956", - "UBERON:0004381", - "HP:0002748", - "UPHENO:0076703", - "CHEBI:36587", - "UPHENO:0084654", - "UBERON:0010363", - "UBERON:0001474", - "UPHENO:0002803", - "UPHENO:0076727", - "UPHENO:0031310", - "CHEBI:16670", - "UPHENO:0082449", - "HP:0032943", - "CHEBI:38304", - "HP:0033127", - "UBERON:0000179", - "UBERON:0002390", - "UBERON:0034944", - "GO:0042592", - "HP:0000079", - "CHEBI:37577", - "UPHENO:0041098", - "UPHENO:0076285", - "UPHENO:0002832", - "CHEBI:26079", - "UBERON:0011216", - "HP:0006487", - "UBERON:0004122", - "UPHENO:0077858", - "UBERON:8450002", - "UPHENO:0082536", - "UPHENO:0002642", - "UBERON:0000064", - "UPHENO:0041610", - "UPHENO:0051900", - "UBERON:0000467", - "HP:0011277", - "UBERON:0000174", - "UPHENO:0046348", - "UBERON:0001088", - "UBERON:0015061", - "CHEBI:33241", - "UPHENO:0078550", - "HP:0011849", - "UPHENO:0002442", - "UPHENO:0080658", - "HP:0000119", - "UBERON:0001008", - "UBERON:0005913", - "UPHENO:0051763", - "UPHENO:0002536", - "UBERON:0001434", - "UBERON:0000061", - "UPHENO:0051686", - "CHEBI:24431", - "UPHENO:0082543", - "HP:0001942", - "UBERON:0000468", - "UPHENO:0068346", - "UPHENO:0081550", - "UPHENO:0068091", - "UPHENO:0081546", - "HP:0004360", - "HP:0003076", - "UPHENO:0068190", - "UPHENO:0041573", - "UPHENO:0068169", - "UBERON:0000178", - "UPHENO:0082538", - "CHEBI:36357", - "UPHENO:0084767", - "UBERON:0000465", - "UPHENO:0077821", - "UPHENO:0002964", - "CHEBI:55370", - "UPHENO:0068292", - "UPHENO:0068491", - "UPHENO:0012541", - "UPHENO:0049874", - "UPHENO:0000543", - "UPHENO:0052038", - "HP:0004364", - "UBERON:0006058", - "UPHENO:0051804", - "CHEBI:36963", - "UPHENO:0081424", - "UPHENO:0002332", - "UBERON:0001969", - "UPHENO:0041226", - "CHEBI:33582", - "CHEBI:36360", - "UPHENO:0082875", - "UPHENO:0041536", - "CHEBI:72695", - "HP:0003259", - "UPHENO:0004459", - "CHEBI:24651", - "UPHENO:0068251", - "UBERON:0000026", - "UPHENO:0001003", - "UPHENO:0020584", - "CHEBI:33670", - "CHEBI:24532", - "CHEBI:33675", - "UBERON:0002471", - "UPHENO:0048707", - "CHEBI:25806", - "UPHENO:0076289", - "CHEBI:25693", - "UPHENO:0076740", - "CHEBI:38101", - "CHEBI:78616", - "CHEBI:50860", - "CHEBI:26082", - "UPHENO:0075159", - "CHEBI:23443", - "UPHENO:0076692", - "UPHENO:0051670", - "UPHENO:0068538", - "UPHENO:0068040", - "CHEBI:33661", - "UPHENO:0051894", - "UPHENO:0075952", - "BFO:0000003", - "UPHENO:0079534", - "CHEBI:17234", - "UPHENO:0076286", - "HP:0001507", - "UPHENO:0068064", - "PR:000050567", - "UPHENO:0081547", - "HP:0001941", - "HP:0430071", - "HP:0012072", - "CHEBI:36359", - "CHEBI:25367", - "CHEBI:5686", - "UBERON:0006314", - "UPHENO:0051640", - "UPHENO:0068442", - "UPHENO:0078554", - "CHEBI:33595", - "HP:0012100", - "UPHENO:0082467", - "HP:0012337", - "UBERON:0004120", - "HP:0020129", - "UPHENO:0081548", - "UBERON:0034925", - "UPHENO:0079536", - "CHEBI:37622", - "CHEBI:24833", - "UPHENO:0068049", - "UBERON:0001977", - "CHEBI:33304", - "HP:0012599", - "UPHENO:0001005", - "HP:0001939", - "UBERON:0000463", - "CHEBI:33674", - "UPHENO:0000541", - "UPHENO:0046286", - "HP:0032180", - "HP:0011844", - "UBERON:0010912", - "CHEBI:23367", - "UPHENO:0001001", - "UBERON:0004288", - "UPHENO:0068352", - "CHEBI:36962", - "CHEBI:33608", - "UBERON:0010000", - "CHEBI:33839", - "UPHENO:0068472", - "UPHENO:0075902", - "CHEBI:16737", - "HP:0000001", - "HP:0031980", - "UPHENO:0068110", - "UBERON:0005173", - "CHEBI:32988", - "UBERON:0002529", - "UBERON:0004765", - "UPHENO:0075696", - "UPHENO:0077826", - "UBERON:0002204", - "CHEBI:33285", - "CHEBI:33832", - "HP:0001871", - "UPHENO:0068971", - "CHEBI:51143", - "PATO:0000001", - "UPHENO:0068495", - "HP:0000083", - "HP:0000077", - "UPHENO:0051630", - "BFO:0000004", - "UPHENO:0068144", - "CHEBI:16646", - "CHEBI:33302", - "UBERON:0002100", - "HP:0012591", - "UBERON:0005177", - "UBERON:0004375", - "CHEBI:33579", - "UBERON:0004708", - "CHEBI:33256", - "CHEBI:26020", - "UPHENO:0051847", - "BFO:0000040", - "UBERON:0001062", - "BFO:0000015", - "UPHENO:0082834", - "HP:0001510", - "UBERON:0000062", - "UBERON:0013702", - "UPHENO:0051753", - "HP:0002813", - "GO:0008150", - "UPHENO:0068089", - "HP:0003109", - "UPHENO:0049587", - "UBERON:0002193", - "CHEBI:24995", - "BFO:0000001", - "BFO:0000020", - "HP:0011842", - "UPHENO:0051668", - "HP:0000118", - "UPHENO:0068247", - "HP:0040068", - "GO:0032501", - "GO:0040007", - "HP:0000940", - "UPHENO:0082539", - "UPHENO:0001002", - ], - "has_phenotype_closure_label": [ - "peptide", - "Abnormal urine protein level", - "increased level of protein polypeptide chain in independent continuant", - "Low-molecular-weight proteinuria", - "protein polypeptide chain", - "abnormal independent continuant protein polypeptide chain level", - "abnormal independent continuant carboxylic acid level", - "increased level of organic acid in urine", - "Aminoaciduria", - "organic amino compound", - "oxoacid", - "Organic aciduria", - "carbon oxoacid", - "organic oxo compound", - "decreased height of the anatomical entity", - "decreased size of the multicellular organism", - "abnormal size of anatomical entity", - "Abnormality of body height", - "decreased height of the multicellular organism", - "abnormal upper urinary tract", - "abnormality of kidney physiology", - "Abnormal renal physiology", - "abdominal segment element", - "abnormal kidney", - "subdivision of trunk", - "main body axis", - "subdivision of organism along main body axis", - "kidney", - "trunk region element", - "non-functional kidney", - "non-functional anatomical entity", - "polypeptide", - "aldose", - "increased level of monosaccharide in independent continuant", - "glucose", - "aldohexose", - "Glycosuria", - "abnormal independent continuant glucose level", - "Abnormal urine metabolite level", - "increased level of monosaccharide in urine", - "Abnormal urinary organic compound level", - "abnormal urine glucose level", - "subdivision of organism along appendicular axis", - "hindlimb", - "paired limb/fin skeleton", - "paired limb/fin", - "Abnormality of limbs", - "Abnormal appendicular skeleton morphology", - "macromolecule", - "Bowing of the legs", - "Aciduria", - "zone of organ", - "organism subdivision", - "pelvic appendage", - "limb", - "skeleton", - "Bowing of the long bones", - "curved hindlimb zeugopod", - "endochondral element", - "limb bone", - "organ part", - "Abnormality of the kidney", - "abnormal diaphysis morphology in the independent continuant", - "posterior region of body", - "abnormal limb bone morphology", - "abnormal limb bone", - "increased level of amino acid in urine", - "abnormal anatomical entity morphology in the appendage girdle complex", - "limb skeleton subdivision", - "abdomen", - "curvature anatomical entity", - "pelvic complex", - "Abnormality of the calf", - "hydrogen molecular entity", - "abnormal appendicular skeleton morphology", - "diaphysis", - "increased level of glucose in independent continuant", - "abnormal limb morphology", - "curved anatomical entity in independent continuant", - "abnormal leg", - "zone of long bone", - "appendage girdle complex", - "limb segment", - "endochondral bone", - "subdivision of skeletal system", - "shape long bone", - "lateral structure", - "carboxylic acid", - "Abnormality of limb bone", - "independent continuant", - "curved anatomical entity", - "abnormal hindlimb zeugopod morphology", - "abdomen element", - "Decreased anatomical entity mass density", - "abnormal hindlimb zeugopod", - "abnormal hindlimb zeugopod, curved", - "occurrent", - "abnormal skeletal system morphology", - "heteromonocyclic compound", - "organ", - "appendicular skeleton", - "All", - "abnormal anatomical entity mass density", - "abnormal urine amino acid level", - "Abnormal urine pH", - "bone element", - "long bone", - "Abnormal bone ossification", - "abnormal anatomical entity, curved", - "decreased size of the anatomical entity", - "musculoskeletal system", - "abnormal biological_process", - "abnormal anatomical entity morphology", - "ossification", - "abnormal role independent continuant level", - "subdivision of skeleton", - "increased level of chemical entity in independent continuant", - "skeletal system", - "abnormal skeletal system", - "Abnormality of urine homeostasis", - "Renal insufficiency", - "increased level of chemical entity in urine", - "compound organ", - "Hyperphosphaturia", - "abnormal size of multicellular organism", - "renal system", - "abnormal role urine level", - "carbohydrate", - "homeostatic process", - "Abnormality of the urinary system physiology", - "abnormal urine chemical entity level", - "s-block molecular entity", - "genitourinary system", - "abnormality of anatomical entity height", - "excretory system", - "Abnormal urinary electrolyte concentration", - "multi-limb segment region", - "leg", - "abnormal phosphate level", - "Proteinuria", - "increased level of creatinine in independent continuant", - "phosphorus molecular entity", - "carboxamide", - "increased level of phosphate in independent continuant", - "zone of bone organ", - "Abnormality of bone mineral density", - "zeugopod", - "oxoacid derivative", - "abnormal chemical entity level", - "Reduced bone mineral density", - "p-block molecular entity", - "abnormal hematopoietic system", - "abnormal urine phosphate level", - "organic acid", - "shape hindlimb zeugopod", - "heteroatomic molecular entity", - "abnormality of renal system physiology", - "abnormal acid bodily fluid level", - "Abnormality of acid-base homeostasis", - "Abnormal diaphysis morphology", - "increased level of phosphate in urine", - "increased blood serum role level", - "increased independent continuant acid level", - "appendicular skeletal system", - "increased bodily fluid acid level", - "abnormal amino acid level", - "carbonyl compound", - "trunk", - "multicellular anatomical structure", - "Acidosis", - "haemolymphatic fluid", - "hematopoietic system", - "paired limb/fin segment", - "blood plasma", - "curved long bone", - "skeletal element", - "multicellular organismal process", - "pnictogen molecular entity", - "bodily fluid", - "carbon group molecular entity", - "Abnormality of metabolism/homeostasis", - "Abnormal circulating creatinine concentration", - "Short stature", - "abnormal metabolite independent continuant level", - "Abnormality of the urinary system", - "anatomical structure", - "Abnormality of blood and blood-forming tissues", - "lactam", - "increased level of carboxylic acid in independent continuant", - "mesoderm-derived structure", - "molecule", - "diazolidine", - "increased level of organic molecular entity in independent continuant", - "phosphorus oxoacids and derivatives", - "increased level of chemical entity in bodily fluid", - "abnormality of anatomical entity physiology", - "Rickets", - "increased level of chemical entity in blood plasma", - "abnormal independent continuant amino acid level", - "phenotype", - "abnormal renal system", - "abnormal role bodily fluid level", - "increased level of carboxylic acid in urine", - "urine", - "organism substance", - "increased blood role level", - "Abnormal urine phosphate concentration", - "increased level of chemical entity in blood", - "Decreased bone element mass density", - "abnormal blood plasma chemical entity level", - "excreta", - "abnormal shape of continuant", - "abnormal multicellular organism chemical entity level", - "Phenotypic abnormality", - "metabolic process", - "abnormal anatomical entity morphology in the pelvic complex", - "hindlimb zeugopod", - "organooxygen compound", - "Azotemia", - "abnormal role blood serum level", - "Abnormality of the musculoskeletal system", - "chemical entity", - "cavitated compound organ", - "chalcogen molecular entity", - "increased independent continuant role level", - "anatomical collection", - "oxygen molecular entity", - "shape anatomical entity", - "increased level of nitrogen molecular entity in blood", - "Abnormal circulating metabolite concentration", - "organic molecular entity", - "system", - "increased level of nitrogen molecular entity in independent continuant", - "Abnormal urine carboxylic acid level", - "delayed growth", - "abdominal segment of trunk", - "abnormal limb", - "abnormal blood creatinine level", - "cyclic amide", - "abnormal anatomical entity", - "organonitrogen heterocyclic compound", - "body proper", - "organic heteromonocyclic compound", - "Abnormal long bone morphology", - "creatinine", - "abnormal role blood level", - "phosphoric acid derivative", - "organic molecule", - "increased level of creatinine in blood", - "increased level of organic acid in independent continuant", - "increased level of glucose in urine", - "Abnormal circulating organic compound concentration", - "molecular entity", - "organochalcogen compound", - "nitrogen molecular entity", - "abnormal anatomical entity morphology in the independent continuant", - "organic heterocyclic compound", - "carbohydrates and carbohydrate derivatives", - "bone of appendage girdle complex", - "abnormal diaphysis morphology", - "abnormal independent continuant phosphate level", - "amide", - "protein-containing material entity", - "abnormal genitourinary system", - "main group molecular entity", - "abnormal blood serum chemical entity level", - "heterocyclic compound", - "abnormal blood chemical entity level", - "polyatomic entity", - "Abnormal skeletal morphology", - "limb endochondral element", - "anatomical entity", - "increased level of amino acid in independent continuant", - "increased level of chemical entity", - "organ system subdivision", - "increased level of creatinine in blood serum", - "abnormal independent continuant nitrogen molecular entity level", - "amino acid", - "decreased size of the anatomical entity in the independent continuant", - "abnormal independent continuant carbohydrate level", - "bone of free limb or fin", - "increased level of chemical entity in blood serum", - "appendage", - "material anatomical entity", - "material entity", - "increased bodily fluid role level", - "phosphorus oxoacid derivative", - "biological_process", - "abnormal independent continuant creatinine level", - "Metabolic acidosis", - "skeleton of limb", - "Growth abnormality", - "imidazolidines", - "multicellular organism", - "delayed biological_process", - "Abnormality of the skeletal system", - "Abnormality of the genitourinary system", - "quality", - "process", - "increased level of protein polypeptide chain in urine", - "abnormality of multicellular organism height", - "abnormal independent continuant chemical entity level", - "anatomical system", - "shape anatomical entity in independent continuant", - "abnormal growth", - "imidazolidinone", - "hemolymphoid system", - "Abnormality of limb bone morphology", - "phenotype by ontology source", - "abnormal phenotype by ontology source", - "cyclic compound", - "organic cyclic compound", - "curvature anatomical entity in independent continuant", - "blood serum", - "abnormal bone element mass density", - "specifically dependent continuant", - "abnormal long bone morphology", - "lower limb segment", - "entity", - "organonitrogen compound", - "hydroxides", - "Abnormality of the upper urinary tract", - "growth", - "hexose", - "abnormal hindlimb morphology", - "Abnormal bone structure", - "phosphate", - "increased independent continuant base level", - "upper urinary tract", - "Abnormal homeostasis", - "abnormal acid independent continuant level", - "Elevated circulating creatinine concentration", - "monosaccharide", - "Abnormal circulating nitrogen compound concentration", - "continuant", - "Growth delay", - "abnormal blood nitrogen molecular entity level", - "Abnormality of the lower limb", - "Elevated urinary carboxylic acid", - "monocyclic compound", - "blood", - "primary amide", - "heteroorganic entity", - ], - }, - { - "id": "MONDO:0024525", - "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 1", - "xref": ["DOID:0080757", "OMIM:134600"], - "provided_by": "phenio_nodes", - "synonym": [ - "DeToni-Debré-Fanconi syndrome", - "FRTS1", - "Fanconi renotubular syndrome", - "Fanconi renotubular syndrome 1", - "Fanconi syndrome without cystinosis", - "Luder-Sheldon syndrome", - "adult Fanconi syndrome", - "primary Fanconi renal syndrome", - "primary Fanconi renotubular syndrome", - "renal Fanconi syndrome", - ], - "namespace": "MONDO", - "has_phenotype": [ - "HP:0002749", - "HP:0034359", - "HP:0001324", - "HP:0003155", - "HP:0001942", - "HP:0002148", - "HP:0000124", - "HP:0003109", - "HP:0003648", - "HP:0002900", - "HP:0002748", - "HP:0003076", - "HP:0003355", - "HP:0004322", - "HP:0003126", - "HP:0000083", - ], - "has_phenotype_label": [ - "Osteomalacia", - "Impaired renal tubular reabsorption of phosphate", - "Muscle weakness", - "Elevated circulating alkaline phosphatase concentration", - "Metabolic acidosis", - "Hypophosphatemia", - "Renal tubular dysfunction", - "Hyperphosphaturia", - "Lacticaciduria", - "Hypokalemia", - "Rickets", - "Glycosuria", - "Aminoaciduria", - "Short stature", - "Low-molecular-weight proteinuria", - "Renal insufficiency", - ], - "has_phenotype_count": 16, - "has_phenotype_closure": [ - "UPHENO:0086132", - "UPHENO:0086128", - "UPHENO:0051801", - "HP:0003126", - "CHEBI:33256", - "CHEBI:37622", - "UPHENO:0068565", - "CHEBI:16670", - "HP:0000093", - "CHEBI:15841", - "CHEBI:16541", - "HP:0000002", - "UPHENO:0015280", - "UPHENO:0075195", - "UPHENO:0080351", - "UPHENO:0020584", - "HP:0004322", - "HP:0001510", - "UPHENO:0081423", - "CHEBI:64709", - "CHEBI:25367", - "HP:0040156", - "CHEBI:35605", - "CHEBI:36586", - "CHEBI:33575", - "UPHENO:0068040", - "CHEBI:33709", - "UPHENO:0051930", - "UPHENO:0082542", - "UPHENO:0012541", - "UPHENO:0049874", - "UPHENO:0000543", - "UPHENO:0068491", - "CHEBI:24651", - "CHEBI:72695", - "CHEBI:24833", - "HP:0003355", - "UPHENO:0051670", - "UPHENO:0068538", - "CHEBI:18133", - "CHEBI:15693", - "UPHENO:0052116", - "CHEBI:33917", - "UPHENO:0051635", - "UPHENO:0078554", - "CHEBI:35381", - "CHEBI:36962", - "CHEBI:25806", - "UPHENO:0080659", - "HP:6000531", - "HP:0033354", - "UPHENO:0068054", - "CHEBI:33521", - "CHEBI:36914", - "CHEBI:33504", - "CHEBI:36916", - "CHEBI:29103", - "UPHENO:0000541", - "CHEBI:33674", - "HP:0020129", - "UPHENO:0081548", - "CHEBI:17234", - "UPHENO:0076286", - "UPHENO:0051958", - "UPHENO:0051898", - "UPHENO:0051645", - "UPHENO:0034199", - "HP:0011042", - "GO:0055080", - "HP:0010929", - "CHEBI:33250", - "CHEBI:26216", - "HP:0002748", - "CHEBI:36915", - "CHEBI:60242", - "CHEBI:25213", - "CHEBI:25414", - "UPHENO:0068511", - "UPHENO:0051640", - "CHEBI:60911", - "UPHENO:0051739", - "UPHENO:0081544", - "HP:0003109", - "UPHENO:0068352", - "UPHENO:0051900", - "CHEBI:33304", - "HP:0012599", - "UBERON:0000174", - "UBERON:0001088", - "UPHENO:0068292", - "CHEBI:33559", - "CHEBI:24870", - "CHEBI:33259", - "UPHENO:0034217", - "HP:0031980", - "UPHENO:0068110", - "HP:0100529", - "CHEBI:33238", - "CHEBI:24867", - "CHEBI:37577", - "UPHENO:0004459", - "GO:0040007", - "UPHENO:0050080", - "UPHENO:0051960", - "CHEBI:26079", - "HP:0002148", - "UPHENO:0034351", - "CHEBI:33608", - "UBERON:0010000", - "GO:0048878", - "UPHENO:0046348", - "UBERON:0000179", - "PR:000000001", - "UBERON:0002390", - "CHEBI:33241", - "UPHENO:0046286", - "UBERON:0001630", - "HP:0032180", - "UPHENO:0080352", - "UPHENO:0051186", - "CHEBI:28358", - "CHEBI:24431", - "UPHENO:0082543", - "UPHENO:0079536", - "UPHENO:0068064", - "UPHENO:0079822", - "UPHENO:0082539", - "UBERON:0000479", - "UBERON:0004120", - "HP:0012337", - "HP:0001942", - "UBERON:0000468", - "UPHENO:0081550", - "HP:0004360", - "UPHENO:0002536", - "UBERON:0001434", - "UPHENO:0051763", - "UPHENO:0068169", - "UBERON:0000178", - "UPHENO:0082538", - "GO:0055062", - "CHEBI:36357", - "UBERON:0000025", - "HP:0001871", - "HP:0010930", - "CHEBI:33285", - "HP:0000924", - "CHEBI:35352", - "UPHENO:0069254", - "CHEBI:36080", - "CHEBI:33839", - "UBERON:0011216", - "HP:0034684", - "CHEBI:33675", - "UPHENO:0068058", - "HP:0004379", - "UPHENO:0068091", - "UPHENO:0081546", - "UBERON:0004211", - "UPHENO:0046362", - "CHEBI:50047", - "CHEBI:78616", - "UPHENO:0034438", - "CHEBI:50860", - "CHEBI:26082", - "BFO:0000002", - "GO:0001503", - "GO:0008152", - "HP:0003155", - "UPHENO:0076289", - "UPHENO:0048707", - "CHEBI:36360", - "CHEBI:33582", - "UPHENO:0051280", - "HP:0000001", - "UPHENO:0075902", - "PR:000003968", - "UPHENO:0068971", - "UPHENO:0034391", - "CHEBI:51143", - "HP:0001992", - "CHEBI:33694", - "UBERON:0002204", - "CHEBI:33695", - "UBERON:0005177", - "CHEBI:33579", - "UPHENO:0051668", - "HP:0003076", - "UBERON:0000383", - "UPHENO:0002320", - "HP:0001324", - "UBERON:0004765", - "PR:000018263", - "UPHENO:0002816", - "HP:0004348", - "UPHENO:0075666", - "HP:0003110", - "HP:0003330", - "UPHENO:0046284", - "HP:0011036", - "HP:0011804", - "UPHENO:0068089", - "UBERON:0015212", - "HP:0003011", - "UPHENO:0081547", - "PR:000050567", - "UBERON:0009569", - "UBERON:0011676", - "UBERON:0001015", - "UBERON:0000463", - "CHEBI:33296", - "UBERON:0004111", - "GO:0042592", - "HP:0000079", - "UPHENO:0051937", - "UPHENO:0080556", - "HP:0002900", - "UBERON:0001231", - "UBERON:8450002", - "UPHENO:0049587", - "UBERON:0001008", - "HP:0000083", - "UPHENO:0068495", - "HP:0000077", - "HP:0000124", - "CHEBI:22314", - "UPHENO:0082835", - "UBERON:0003103", - "CHEBI:24835", - "UPHENO:0002411", - "HP:0012211", - "UBERON:0000467", - "HP:0011277", - "CHEBI:60004", - "UPHENO:0049628", - "CHEBI:23367", - "UBERON:0003914", - "UBERON:0000483", - "GO:0003014", - "GO:0003008", - "HP:0010935", - "UBERON:0004819", - "UPHENO:0082834", - "UPHENO:0002803", - "HP:0001941", - "UBERON:0005090", - "GO:0008150", - "UBERON:0007684", - "UPHENO:0066739", - "BFO:0000020", - "UPHENO:0081777", - "UBERON:0004122", - "UBERON:0000916", - "UBERON:0009773", - "UBERON:0000064", - "UPHENO:0068144", - "CHEBI:16646", - "UPHENO:0079824", - "CHEBI:33302", - "UBERON:0013702", - "CHEBI:33318", - "UBERON:0006314", - "UPHENO:0066943", - "CHEBI:37247", - "UPHENO:0080555", - "UPHENO:0049904", - "CHEBI:26217", - "UBERON:0000489", - "CHEBI:26020", - "UPHENO:0049709", - "UPHENO:0051847", - "BFO:0000040", - "UPHENO:0001003", - "UBERON:0001285", - "HP:0034359", - "UPHENO:0024906", - "UBERON:0000465", - "UPHENO:0082943", - "UPHENO:0051191", - "UPHENO:0002642", - "CHEBI:36963", - "UPHENO:0051804", - "GO:0070293", - "HP:0011038", - "UBERON:0000062", - "BFO:0000003", - "HP:0001939", - "UPHENO:0001005", - "UPHENO:0081424", - "HP:0003648", - "UPHENO:0002332", - "UPHENO:0066927", - "HP:0001507", - "GO:0098771", - "HP:0012072", - "CHEBI:36359", - "HP:0003111", - "CHEBI:23906", - "HP:0012379", - "UPHENO:0001002", - "UPHENO:0075696", - "UPHENO:0077821", - "UPHENO:0002964", - "UPHENO:0052008", - "UBERON:0006555", - "CHEBI:32988", - "UBERON:0005173", - "HP:0002749", - "HP:0004349", - "UPHENO:0084653", - "BFO:0000001", - "UPHENO:0068247", - "GO:0050801", - "GO:0032501", - "HP:0012591", - "UBERON:0002100", - "UBERON:0001062", - "HP:0032943", - "HP:0033127", - "HP:0011849", - "UPHENO:0002442", - "CHEBI:59999", - "UBERON:0002193", - "HP:0011842", - "UBERON:0013701", - "UPHENO:0075159", - "UPHENO:0076692", - "UPHENO:0068094", - "HP:0000118", - "UPHENO:0082875", - "UPHENO:0051686", - "UBERON:0000061", - "UBERON:0005172", - "CHEBI:36587", - "UPHENO:0084654", - "BFO:0000004", - "UPHENO:0080658", - "HP:0000119", - "UBERON:0000475", - "UPHENO:0046283", - "UPHENO:0001001", - "UPHENO:0051709", - "BFO:0000015", - "PR:000064867", - "UPHENO:0034253", - "PATO:0000001", - "UPHENO:0002832", - "UBERON:0002417", - "UPHENO:0076703", - "UBERON:0011143", - "UBERON:0002113", - "UBERON:0001474", - ], - "has_phenotype_closure_label": [ - "peptide", - "Abnormal urine protein level", - "increased level of protein polypeptide chain in independent continuant", - "primary amide", - "amide", - "abnormal independent continuant protein polypeptide chain level", - "abnormal growth", - "Abnormality of body height", - "delayed biological_process", - "delayed growth", - "Abnormal urine carboxylic acid level", - "abnormal independent continuant carboxylic acid level", - "increased level of organic acid in urine", - "Aminoaciduria", - "increased level of nitrogen molecular entity in independent continuant", - "organic molecule", - "carboxylic acid", - "molecule", - "oxoacid", - "decreased height of the anatomical entity", - "organic oxo compound", - "abnormal independent continuant nitrogen molecular entity level", - "carbon oxoacid", - "increased level of amino acid in urine", - "polypeptide", - "aldose", - "decreased size of the anatomical entity in the independent continuant", - "amino acid", - "abnormal independent continuant carbohydrate level", - "increased level of monosaccharide in independent continuant", - "glucose", - "Glycosuria", - "abnormal independent continuant glucose level", - "increased level of organic acid in independent continuant", - "increased level of glucose in urine", - "oxygen molecular entity", - "increased level of monosaccharide in urine", - "increased level of glucose in independent continuant", - "Abnormal urinary organic compound level", - "abnormal urine glucose level", - "abnormal independent continuant potassium atom level", - "decreased size of the multicellular organism", - "alkali metal molecular entity", - "Short stature", - "abnormal metabolite independent continuant level", - "abnormal independent continuant potassium(1+) level", - "Abnormal urine metabolite level", - "atom", - "abnormal blood potassium atom level", - "potassium molecular entity", - "monoatomic cation homeostasis", - "organooxygen compound", - "decreased level of potassium atom in blood", - "potassium atom", - "inorganic cation", - "decreased level of potassium atom in independent continuant", - "increased level of organic molecular entity in independent continuant", - "abnormal potassium atom level", - "hydrogen molecular entity", - "Abnormal blood cation concentration", - "abnormal role blood level", - "inorganic ion", - "Rickets", - "monovalent inorganic cation", - "metal cation", - "monoatomic monocation", - "s-block element atom", - "main group element atom", - "Elevated urinary carboxylic acid", - "Abnormal blood potassium concentration", - "metal atom", - "decreased height of the multicellular organism", - "inorganic molecular entity", - "Low-molecular-weight proteinuria", - "potassium(1+)", - "Abnormal blood monovalent inorganic cation concentration", - "decreased role independent continuant level", - "abnormal monoatomic cation homeostasis", - "Lacticaciduria", - "aldohexose", - "cation", - "chemical substance", - "racemate", - "Aciduria", - "mixture", - "increased level of rac-lactic acid in urine", - "increased level of rac-lactic acid in independent continuant", - "Abnormality of urine homeostasis", - "Renal insufficiency", - "abnormal blood potassium(1+) level", - "increased level of chemical entity in urine", - "excreta", - "Abnormal urine phosphate concentration", - "abnormal urine chemical entity level", - "Abnormal urinary electrolyte concentration", - "carboxamide", - "increased level of phosphate in independent continuant", - "increased level of phosphate in urine", - "haemolymphatic fluid", - "hematopoietic system", - "blood", - "Hypophosphatemia", - "carbohydrate", - "abnormal role urine level", - "homeostatic process", - "protein polypeptide chain", - "Abnormal blood ion concentration", - "increased independent continuant acid level", - "abnormal blood phosphate level", - "abnormal blood chemical entity level", - "alkali metal atom", - "abnormal homeostatic process", - "Proteinuria", - "phosphorus molecular entity", - "decreased role blood level", - "phosphate ion homeostasis", - "alkali metal cation", - "decreased level of phosphate in blood", - "decreased level of chemical entity in blood", - "increased level of protein polypeptide chain in urine", - "abnormality of multicellular organism height", - "anatomical system", - "abnormal independent continuant chemical entity level", - "abnormal blood monoatomic ion level", - "increased level of carboxylic acid in independent continuant", - "mesoderm-derived structure", - "increased level of chemical entity in bodily fluid", - "phosphorus oxoacids and derivatives", - "increased independent continuant role level", - "monoatomic entity", - "epithelium", - "phosphorus oxoacid derivative", - "ion", - "abdomen", - "abnormal phosphate ion homeostasis", - "anatomical structure", - "Abnormality of the urinary system", - "Abnormality of blood and blood-forming tissues", - "phosphoric acid derivative", - "material entity", - "inorganic ion homeostasis", - "monosaccharide", - "Abnormal blood phosphate concentration", - "bodily fluid", - "abnormal multicellular organism chemical entity level", - "abnormal chemical homeostasis", - "abnormal acid independent continuant level", - "Abnormality of acid-base homeostasis", - "abnormal role independent continuant level", - "information biomacromolecule", - "increased bodily fluid role level", - "Abnormality of metabolism/homeostasis", - "carbon group molecular entity", - "increased level of amino acid in independent continuant", - "increased level of chemical entity", - "increased level of protein", - "protein-containing molecular entity", - "molecular entity", - "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", - "abnormal anatomical entity morphology in the independent continuant", - "organochalcogen compound", - "nitrogen molecular entity", - "material anatomical entity", - "Abnormal enzyme concentration or activity", - "Growth abnormality", - "increased level of alkaline phosphatase, tissue-nonspecific isozyme", - "alkaline phosphatase, tissue-nonspecific isozyme", - "decreased level of phosphate in independent continuant", - "biomacromolecule", - "protein", - "heteroorganic entity", - "organonitrogen compound", - "polyatomic entity", - "increased level of carboxylic acid in urine", - "urine", - "organism substance", - "monoatomic ion homeostasis", - "Elevated circulating alkaline phosphatase concentration", - "decreased anatomical entity strength", - "Muscle weakness", - "abnormal monoatomic ion homeostasis", - "muscle structure", - "Hypokalemia", - "hemolymphoid system", - "Abnormality of the musculature", - "abnormality of kidney physiology", - "Abnormal muscle physiology", - "musculature", - "abnormal amino acid level", - "carbonyl compound", - "multicellular anatomical structure", - "trunk", - "Acidosis", - "nephron tubule", - "renal tubule", - "Abnormality of the skeletal system", - "uriniferous tubule", - "abnormal independent continuant monoatomic ion level", - "abnormal acid bodily fluid level", - "nephron epithelium", - "anatomical conduit", - "organic molecular entity", - "nephron", - "epithelial tube", - "Abnormal renal physiology", - "Abnormality of the kidney", - "chalcogen molecular entity", - "cavitated compound organ", - "skeletal system", - "system process", - "increased level of chemical entity in independent continuant", - "abnormal phenotype by ontology source", - "organic acid", - "heteroatomic molecular entity", - "Abnormality of alkaline phosphatase level", - "organ part", - "abnormal kidney", - "oxoacid derivative", - "Abnormal circulating enzyme concentration or activity", - "Abnormality of bone mineral density", - "abdominal segment of trunk", - "elemental molecular entity", - "subdivision of trunk", - "elemental potassium", - "main body axis", - "abdomen element", - "Decreased anatomical entity mass density", - "abnormal musculature", - "rac-lactic acid", - "subdivision of organism along main body axis", - "s-block molecular entity", - "genitourinary system", - "abnormal independent continuant phosphate level", - "protein-containing material entity", - "macromolecule", - "abnormality of anatomical entity physiology", - "kidney epithelium", - "abnormally decreased functionality of the anatomical entity", - "Organic aciduria", - "amino acid chain", - "monoatomic cation", - "renal absorption", - "increased independent continuant base level", - "Abnormal homeostasis", - "upper urinary tract", - "excretory tube", - "main group molecular entity", - "abnormal genitourinary system", - "Phenotypic abnormality", - "metabolic process", - "Renal tubular dysfunction", - "growth", - "hydroxides", - "Abnormality of the upper urinary tract", - "carbohydrates and carbohydrate derivatives", - "muscle organ", - "abnormal anatomical entity mass density", - "All", - "kidney", - "increased bodily fluid acid level", - "abnormality of renal system physiology", - "Hyperphosphaturia", - "compound organ", - "lateral structure", - "Abnormality of renal excretion", - "non-functional anatomical entity", - "abnormality of muscle organ physiology", - "abnormal independent continuant amino acid level", - "phenotype", - "abnormal renal system", - "renal system process", - "chemical entity", - "Abnormality of the musculoskeletal system", - "abnormal size of anatomical entity", - "Impaired renal tubular reabsorption of phosphate", - "tissue", - "phosphate", - "hexose", - "Abnormal bone structure", - "abdominal segment element", - "pnictogen molecular entity", - "multicellular organismal process", - "skeletal element", - "entity", - "Osteomalacia", - "decreased muscle organ strength", - "abnormal renal absorption", - "Growth delay", - "musculature of body", - "occurrent", - "abnormal skeletal system morphology", - "abnormal role bodily fluid level", - "Abnormality of the genitourinary system", - "quality", - "process", - "body proper", - "abnormal urine amino acid level", - "Abnormal urine pH", - "bone element", - "continuant", - "Decreased bone element mass density", - "abnormal anatomical entity morphology", - "abnormal biological_process", - "ossification", - "abnormal upper urinary tract", - "specifically dependent continuant", - "abnormal bone element mass density", - "independent continuant", - "multicellular organism", - "Abnormal bone ossification", - "monoatomic ion", - "decreased level of chemical entity in independent continuant", - "anatomical entity", - "Abnormal skeletal morphology", - "Abnormality of the urinary system physiology", - "abnormal renal system process", - "decreased level of chemical entity", - "trunk region element", - "decreased size of the anatomical entity", - "musculoskeletal system", - "Metabolic acidosis", - "non-functional kidney", - "abnormally decreased functionality of the nephron tubule", - "biological_process", - "organic amino compound", - "abnormal chemical entity level", - "Reduced bone mineral density", - "Abnormal circulating metabolite concentration", - "abnormality of anatomical entity height", - "excretory system", - "abnormal size of multicellular organism", - "renal system", - "abnormal skeletal system", - "phenotype by ontology source", - "abnormal protein level", - "Abnormal renal tubular resorption", - "chemical homeostasis", - "abnormal anatomical entity", - "abnormal urine phosphate level", - "abnormal hematopoietic system", - "p-block molecular entity", - "anatomical entity dysfunction in independent continuant", - "organism subdivision", - "organ", - "organ system subdivision", - "abnormal phosphate level", - "tube", - ], - }, - { - "id": "MONDO:0044325", - "category": "biolink:Disease", - "name": "Fanconi anemia, complementation group W", - "xref": ["OMIM:617784", "UMLS:C4521564"], - "provided_by": "phenio_nodes", - "synonym": ["FANCW", "Fanconi anemia, complementation group W"], - "namespace": "MONDO", - "has_phenotype": [ - "HP:0002247", - "HP:0002863", - "HP:0000252", - "HP:0002984", - "HP:0002119", - "HP:0009777", - "HP:0001510", - "HP:0001511", - "HP:0001748", - "HP:0000824", - "HP:0002518", - "HP:0002308", - "HP:0031689", - "HP:0011800", - "HP:0000089", - "HP:0410049", - ], - "has_phenotype_label": [ - "Duodenal atresia", - "Myelodysplasia", - "Microcephaly", - "Hypoplasia of the radius", - "Ventriculomegaly", - "Absent thumb", - "Growth delay", - "Intrauterine growth retardation", - "Polysplenia", - "Decreased response to growth hormone stimulation test", - "Abnormal periventricular white matter morphology", - "Chiari malformation", - "Megakaryocyte dysplasia", - "Midface retrusion", - "Renal hypoplasia", - "Abnormal radial ray morphology", - ], - "has_phenotype_count": 16, - "has_phenotype_closure": [ - "UPHENO:0076779", - "HP:0012210", - "UBERON:0004122", - "UPHENO:0002642", - "UPHENO:0002803", - "UPHENO:0075182", - "UBERON:0000489", - "HP:0008678", - "UBERON:0001008", - "UBERON:0001444", - "HP:0000271", - "UPHENO:0081227", - "HP:0000309", - "HP:0025354", - "UPHENO:0086172", - "CL:0001035", - "UBERON:0000479", - "HP:0012143", - "CL:0002092", - "CL:0000763", - "HP:0031689", - "HP:0002438", - "UPHENO:0020013", - "UBERON:0004733", - "UPHENO:0076957", - "UPHENO:0076720", - "UPHENO:0072814", - "UBERON:0002028", - "UBERON:0002037", - "HP:0001317", - "HP:0005561", - "UBERON:0005162", - "HP:0002500", - "UBERON:0001869", - "HP:0002518", - "UPHENO:0074037", - "UPHENO:0021803", - "UPHENO:0073937", - "HP:0010993", - "UBERON:0002437", - "UPHENO:0087902", - "UBERON:0002316", - "HP:0002180", - "UBERON:0003544", - "UPHENO:0059829", - "GO:0023052", - "GO:0032940", - "UPHENO:0086771", - "HP:0000864", - "HP:0000818", - "UPHENO:0004618", - "UPHENO:0082875", - "UBERON:0001894", - "UBERON:0002196", - "UBERON:0000178", - "HP:0011800", - "HP:0011747", - "UPHENO:0075772", - "UPHENO:0081628", - "UBERON:8450002", - "UPHENO:0087940", - "UBERON:0000990", - "UBERON:8600018", - "HP:0031072", - "UPHENO:0087516", - "GO:0065007", - "UPHENO:0081601", - "GO:0051179", - "GO:0009987", - "UPHENO:0005652", - "UBERON:0005156", - "UBERON:0003296", - "UPHENO:0085195", - "CL:0000000", - "GO:0140352", - "GO:0007154", - "HP:0003117", - "UPHENO:0059874", - "UPHENO:0042775", - "UPHENO:0050121", - "HP:0031073", - "UBERON:0000949", - "UPHENO:0087531", - "GO:0042886", - "GO:0046879", - "UBERON:0015204", - "UBERON:0000179", - "GO:0009914", - "GO:0071705", - "GO:0071702", - "GO:0023061", - "GO:0065008", - "GO:0050789", - "UPHENO:0046284", - "UBERON:0002368", - "UPHENO:0076287", - "HP:0032367", - "UPHENO:0080588", - "UPHENO:0003116", - "UBERON:0006314", - "UBERON:0000153", - "UPHENO:0084761", - "UPHENO:0014240", - "UBERON:0004732", - "UPHENO:0063569", - "UPHENO:0075220", - "UPHENO:0000541", - "UPHENO:0087339", - "UPHENO:0076812", - "GO:0030252", - "HP:0100763", - "UBERON:0017672", - "HP:0000119", - "UBERON:0004535", - "UPHENO:0002819", - "UPHENO:0081210", - "UBERON:0010758", - "UPHENO:0056059", - "UPHENO:0069110", - "UBERON:0000477", - "UPHENO:0080362", - "UBERON:0002106", - "UBERON:0002049", - "UPHENO:0080221", - "UBERON:0002075", - "UBERON:0007798", - "UBERON:0003606", - "HP:0002597", - "UBERON:0012354", - "UPHENO:0087267", - "UPHENO:0005597", - "UPHENO:0081436", - "UPHENO:0052178", - "NCBITaxon:2759", - "GO:0009790", - "UBERON:0002495", - "UPHENO:0080377", - "GO:0032502", - "UPHENO:0050034", - "UPHENO:0079872", - "UPHENO:0052778", - "UBERON:0003133", - "HP:0001511", - "GO:0040007", - "UPHENO:0014335", - "UPHENO:0083689", - "UPHENO:0086700", - "UBERON:5002544", - "CL:0000988", - "UPHENO:0086735", - "HP:0001167", - "UBERON:5001463", - "CHEBI:24431", - "UPHENO:0077889", - "HP:0009380", - "UBERON:0011215", - "UPHENO:0084448", - "UPHENO:0049587", - "UBERON:0002470", - "UPHENO:0081790", - "HP:0009777", - "HP:0000830", - "UPHENO:0080325", - "UBERON:0000007", - "UBERON:0004381", - "UBERON:0012140", - "GO:0032501", - "UBERON:0005451", - "UBERON:0001463", - "UBERON:0001555", - "UPHENO:0026506", - "UPHENO:0026183", - "UBERON:0011676", - "UPHENO:0084766", - "UPHENO:0076293", - "HP:0000240", - "HP:0001172", - "UPHENO:0080126", - "UBERON:0012141", - "OBI:0100026", - "HP:0009826", - "UPHENO:0005642", - "UBERON:0002389", - "UPHENO:0002948", - "UPHENO:0002708", - "UBERON:0006717", - "UPHENO:0006910", - "UPHENO:0085144", - "HP:0002977", - "UPHENO:0086956", - "UBERON:5002389", - "UBERON:5006048", - "UPHENO:0076724", - "UPHENO:0026028", - "HP:0001155", - "GO:0048856", - "UPHENO:0049927", - "GO:0002790", - "UBERON:0001016", - "HP:0005922", - "UBERON:0003947", - "HP:0009799", - "UPHENO:0056072", - "UBERON:0012139", - "UPHENO:0081598", - "UPHENO:0049647", - "UBERON:0005281", - "UPHENO:0081204", - "UBERON:0005358", - "UBERON:0000060", - "UBERON:0005173", - "UBERON:0005057", - "UPHENO:0001440", - "UPHENO:0076953", - "UPHENO:0065599", - "UBERON:0015212", - "UPHENO:0031839", - "HP:0001510", - "HP:0033127", - "UPHENO:0087349", - "UPHENO:0002896", - "HP:0009824", - "HP:0045060", - "UBERON:0000916", - "HP:0002818", - "UBERON:0003460", - "UPHENO:0002833", - "UBERON:0010707", - "UBERON:0004708", - "HP:0005773", - "UPHENO:0020888", - "UPHENO:0046505", - "UBERON:0010740", - "UBERON:0005177", - "UBERON:0002529", - "UBERON:0004765", - "HP:0040064", - "UBERON:0005881", - "UBERON:0010133", - "HP:0009115", - "UBERON:0002100", - "HP:0005927", - "HP:0006496", - "HP:0000089", - "UBERON:0002417", - "HP:0002817", - "UPHENO:0076735", - "UBERON:0010363", - "UPHENO:0076740", - "UBERON:0003466", - "GO:0007267", - "UPHENO:0000543", - "UPHENO:0076718", - "UBERON:0010323", - "UBERON:0002471", - "UBERON:0010741", - "UBERON:0004710", - "UBERON:0008785", - "UBERON:0001440", - "UBERON:0004923", + "UBERON:0005173", + "HP:0002624", "UBERON:0002530", - "UBERON:0008962", - "HP:0025408", - "UBERON:0002465", + "UPHENO:0002844", + "UPHENO:0075995", + "UBERON:0004092", + "UBERON:0000466", + "UBERON:0008785", + "UBERON:0000015", + "UPHENO:0052675", + "HP:0000316", + "UPHENO:0042834", + "UPHENO:0072195", + "HP:0002814", + "UBERON:0006800", + "UPHENO:0049367", + "UPHENO:0052231", + "UPHENO:0081594", "NCBITaxon:1", - "UPHENO:0008523", - "UPHENO:0087006", + "UPHENO:0021474", + "UPHENO:0087597", + "UBERON:0002114", + "UPHENO:0076748", + "UBERON:0012152", + "UPHENO:0078375", + "UBERON:0010696", + "NBO:0000444", + "UPHENO:0081344", + "UBERON:0000063", + "HP:0008056", + "UBERON:0007273", + "HP:0002270", + "UBERON:0015022", + "UPHENO:0086866", + "UBERON:0001445", + "HP:0011297", + "UBERON:0004248", + "GO:0043473", + "UBERON:0012142", + "UBERON:0010758", + "UBERON:0001890", + "UPHENO:0081091", + "HP:0010674", + "HP:0001217", + "UPHENO:0078125", + "UPHENO:0087369", + "UPHENO:0082444", + "HP:0001639", + "UPHENO:0002896", + "UPHENO:0076806", + "HP:0040072", + "UBERON:0004053", + "UBERON:0001441", + "UBERON:0015023", + "UPHENO:0081575", + "UBERON:0001711", + "UBERON:0003221", "UPHENO:0002964", - "UBERON:0002544", - "UBERON:0015001", - "HP:0002352", - "UBERON:0002428", - "UPHENO:0046538", - "HP:0002984", - "UBERON:0002386", - "UPHENO:0086635", + "UPHENO:0088140", + "UBERON:0006314", + "UPHENO:0041821", + "HP:0100760", + "UBERON:0010709", + "UBERON:0005440", + "HP:0001882", + "UPHENO:0002905", + "UPHENO:0084654", + "UBERON:0001769", + "UBERON:5002544", + "UBERON:0000154", + "HP:0031653", + "UBERON:0004122", + "HP:0009826", + "UPHENO:0033616", + "HP:0001384", + "CL:0000763", + "UPHENO:0049586", + "UBERON:0010742", + "HP:0004349", "HP:0040068", - "UPHENO:0087907", - "UPHENO:0075995", - "UBERON:0005172", - "HP:0000252", - "UPHENO:0076692", - "UPHENO:0075774", - "UBERON:0003937", - "UBERON:0002204", - "HP:0040072", - "UBERON:0002091", - "HP:0002012", - "GO:0010817", - "UPHENO:0076790", + "UBERON:0002470", + "UBERON:0012139", + "HP:0001824", + "UBERON:0004709", + "UPHENO:0033603", + "UBERON:0001466", + "UBERON:0000978", "UPHENO:0087123", - "UBERON:0002108", - "UBERON:0010538", - "UPHENO:0087518", - "UBERON:0003607", - "UPHENO:0076805", - "UBERON:0010703", - "HP:0011793", - "UPHENO:0063565", - "UBERON:0011584", - "UBERON:0002390", - "UPHENO:0079876", - "UBERON:0034923", - "GO:0008150", - "UBERON:0015061", - "UBERON:0011582", - "UPHENO:0081313", - "HP:0002973", - "UBERON:0006058", - "CL:0000556", - "UBERON:0010708", - "HP:0006503", - "UPHENO:0081594", - "HP:0040195", - "HP:0009815", - "UPHENO:0081792", - "UPHENO:0087510", - "UPHENO:0086633", - "NCBITaxon:33208", - "HP:0002118", "HP:0000077", - "UBERON:0002371", - "UPHENO:0080114", - "UBERON:0001474", - "NCBITaxon:131567", - "UPHENO:0077890", - "UPHENO:0076702", - "UPHENO:0087376", - "UBERON:0000481", - "UBERON:0012475", - "HP:0010935", - "UBERON:0002398", - "UPHENO:0009382", - "UPHENO:0084763", - "UBERON:0004089", - "UBERON:0000454", - "UBERON:0004111", - "UBERON:0003129", - "UBERON:0000468", - "UBERON:0002102", - "UPHENO:0086932", - "HP:0000234", - "UPHENO:0081786", - "HP:0006265", - "HP:0000079", - "RO:0002577", - "UBERON:0000955", - "UBERON:0004121", - "UBERON:0001890", - "UPHENO:0081547", - "HP:0000152", - "UBERON:0007811", - "UBERON:0006558", - "UBERON:0019261", - "UBERON:0013702", - "UPHENO:0080220", - "UPHENO:0077887", - "UPHENO:0002910", - "HP:0002011", - "HP:0009121", - "UBERON:0004086", - "UPHENO:0002764", - "UPHENO:0011498", - "UPHENO:0076286", - "HP:0011844", - "UBERON:0010912", - "UPHENO:0049724", - "UPHENO:0080200", - "UPHENO:0075195", + "UBERON:0002199", + "UBERON:0002137", + "UBERON:0011143", + "UBERON:0007842", "UBERON:0002113", - "UBERON:0015021", - "HP:0002589", - "UPHENO:0080099", - "HP:0002308", - "UPHENO:0086621", - "UPHENO:0087089", - "UBERON:0004288", - "UPHENO:0002832", - "UPHENO:0051668", - "UBERON:0001009", - "UPHENO:0081451", - "HP:0000924", - "HP:0012443", - "HP:0012639", - "UBERON:0005409", - "UPHENO:0008668", + "HP:0001199", + "UPHENO:0000996", + "UBERON:0005881", + "UPHENO:0076779", + "UBERON:0001846", + "UBERON:0002217", + "UBERON:0007375", + "UBERON:0034768", + "UPHENO:0081570", + "UPHENO:0076786", + "UBERON:0001703", + "UPHENO:0078215", + "UBERON:0002553", + "HP:0031816", + "UPHENO:0075843", + "HP:0000172", + "UBERON:0012240", + "UBERON:0001734", "UBERON:0005944", - "HP:0007364", - "UPHENO:0002830", - "UPHENO:0087585", - "HP:0011282", - "GO:0015833", - "HP:0001748", - "HP:0410049", - "HP:0031071", - "GO:0007275", - "UPHENO:0081466", - "UPHENO:0076703", + "UBERON:0000079", + "UBERON:0001716", + "UBERON:0004089", + "UPHENO:0088088", + "HP:0008678", + "HP:0012372", + "UBERON:0005179", + "UPHENO:0080221", + "HP:0001034", + "HP:0012210", + "UPHENO:0059829", + "UPHENO:0074575", + "HP:0000309", + "UPHENO:0082682", + "UBERON:0001359", + "UPHENO:0074584", + "UBERON:0000167", "UBERON:0001442", - "UPHENO:0063629", - "UPHENO:0002332", - "UPHENO:0076727", - "UBERON:0000475", - "UPHENO:0001001", - "UBERON:0001423", - "HP:0010662", - "UBERON:0002513", - "BFO:0000003", - "UPHENO:0088145", - "UPHENO:0026181", - "UBERON:0002616", - "UBERON:0002114", - "UPHENO:0076791", - "UBERON:0001893", - "UPHENO:0002751", - "UBERON:0002101", - "HP:0001743", - "UPHENO:0080393", - "UBERON:0019231", - "UBERON:0011249", - "UPHENO:0051763", - "UPHENO:0002536", - "UBERON:0001434", + "UPHENO:0078736", + "HP:0031105", + "UBERON:0002416", + "HP:0008053", "UPHENO:0022529", - "UPHENO:0002678", - "UBERON:0034925", - "UBERON:0001456", - "GO:0030072", - "UBERON:0004921", - "UPHENO:0071309", - "UPHENO:0002808", - "HP:0025461", - "UPHENO:0083951", - "UPHENO:0004523", - "UPHENO:0087355", - "UPHENO:0084928", - "UBERON:0002193", - "HP:0011842", - "HP:0007367", - "UPHENO:0002844", - "UBERON:0011216", - "PR:000050567", - "UPHENO:0076803", - "NCBITaxon:33154", - "UPHENO:0071344", - "HP:0001626", - "HP:0040075", - "UPHENO:0076799", - "HP:0002863", - "UBERON:0011299", - "UBERON:0000160", - "UBERON:0004120", - "HP:0012503", - "UPHENO:0050108", - "HP:0011314", - "UBERON:0000063", - "HP:0004377", - "UBERON:0000465", - "UBERON:0015203", - "UPHENO:0075175", - "HP:0006501", - "HP:0100547", - "UPHENO:0086589", - "UPHENO:0051804", - "HP:0025031", - "HP:0012718", - "UPHENO:0012274", - "UBERON:0010314", - "UBERON:0000062", - "UBERON:0000075", - "HP:0002242", - "UPHENO:0015280", - "UPHENO:0074228", - "HP:0040070", - "UBERON:0002090", - "UPHENO:0077872", - "BFO:0000015", - "UPHENO:0080079", - "UBERON:0003103", - "GO:0051234", - "UPHENO:0068971", - "HP:0002247", - "UPHENO:0080187", - "UPHENO:0087501", - "HP:0009601", - "HP:0002664", - "HP:0001507", - "HP:0001871", - "UPHENO:0088186", - "UPHENO:0001072", - "UBERON:0000025", - "HP:0000929", - "UPHENO:0088047", - "UBERON:0001062", - "HP:0002715", - "UPHENO:0069294", - "UPHENO:0001002", - "GO:0006810", - "UBERON:0000026", - "UPHENO:0002725", - "UBERON:0000463", - "UPHENO:0001003", - "HP:0002060", - "HP:0000118", - "UBERON:0005282", - "UPHENO:0049874", - "PATO:0000001", - "UPHENO:0075902", - "UPHENO:0076783", - "HP:0002813", - "HP:0000001", - "UBERON:0013522", - "UBERON:0007272", - "BFO:0000001", - "GO:0046903", - "UBERON:0001460", - "UBERON:0000033", - "HP:0000824", - "UPHENO:0081566", - "UBERON:0011143", - "UBERON:0013701", - "HP:0011024", - "UBERON:0019221", - "UPHENO:0087472", - "BFO:0000020", - "BFO:0000002", - "UPHENO:0005433", - "UPHENO:0020041", - "UBERON:0001017", - "UBERON:0001895", - "UBERON:0000073", - "BFO:0000004", - "UPHENO:0002905", - "UBERON:0004092", - "UPHENO:0063639", + "UPHENO:0054957", + "UPHENO:0084511", + "UPHENO:0066927", + "UBERON:0010000", + "UBERON:0010230", + "HP:0011121", + "UPHENO:0080601", + "UPHENO:0086172", + "UPHENO:0074589", + "CL:0000225", + "UPHENO:0054970", + "UPHENO:0049940", + "UPHENO:0084761", + "UBERON:0002384", + "UBERON:0012141", + "CL:0000151", + "HP:0001510", + "HP:0001167", + "UPHENO:0085302", + "UPHENO:0080114", + "UPHENO:0084766", + "UPHENO:0080201", + "UBERON:0003101", + "HP:0001155", + "HP:0045060", + "HP:0008373", + "HP:0005927", + "UPHENO:0085371", "UPHENO:0076723", - "HP:0002246", - "UPHENO:0076289", - "UBERON:0000061", - "HP:0011283", - "UPHENO:0083952", + "UPHENO:0084653", + "UBERON:0005451", + "HP:0005922", + "UPHENO:0082671", + "UPHENO:0078179", + "HP:0011849", + "HP:0010469", + "UBERON:0008202", + "UPHENO:0082834", + "HP:0004209", + "UPHENO:0087203", + "UPHENO:0082835", + "UBERON:0002412", + "GO:0001503", + "HP:0011446", + "HP:0030084", + "HP:0000377", + "HP:0004097", + "UBERON:0012357", + "UPHENO:0084842", + "HP:0009824", + "UPHENO:0080369", + "UPHENO:0084829", + "HP:0000864", + "UPHENO:0086150", + "UPHENO:0076736", + "HP:0009179", + "UBERON:5003625", + "UBERON:0012180", + "UPHENO:0068971", + "UPHENO:0081790", + "HP:0200007", "HP:0009821", - "UPHENO:0081562", + "UPHENO:0012274", "UPHENO:0012541", - "UPHENO:0081435", - "HP:0000707", - "HP:0025033", - "UPHENO:0081091", - "UBERON:0001007", - "UBERON:0006048", - "UBERON:0000064", - "UBERON:0011138", - "HP:0011100", - "NCBITaxon:6072", - "UPHENO:0004459", - "UBERON:0004375", - "UPHENO:0087427", - "HP:0002119", - "UBERON:0011137", - "UBERON:0010712", - "UPHENO:0077873", - "UPHENO:0084771", - "UPHENO:0020584", - "UBERON:0004177", - "HP:0002244", - "UPHENO:0001005", - "UBERON:0009569", - "BFO:0000040", - "UPHENO:0002880", - "UBERON:0000467", - "HP:0003026", - "UPHENO:0078743", - "UBERON:0002405", - "UPHENO:0080382", - "UPHENO:0046540", - "UBERON:0013765", - "HP:0011297", - "UPHENO:0075696", - "UBERON:0010000", + "UPHENO:0053580", + "HP:0040019", + "UPHENO:0069293", + "UBERON:0010425", + "UBERON:0007823", + "UPHENO:0001001", + "UPHENO:0087892", + "UPHENO:0060026", + "HP:0001367", + "HP:0000504", + "UPHENO:0002813", + "UPHENO:0087980", + "UBERON:0001457", + "UBERON:0008907", + "UPHENO:0079871", + "NBO:0000313", + "HP:0002827", + "UBERON:0000982", + "UBERON:0005913", + "UBERON:0001271", + "UBERON:0003828", + "UPHENO:0075945", + "UBERON:0003463", + "UPHENO:0086088", + "HP:0001903", + "UPHENO:0076767", + "UBERON:0001464", + "UBERON:0008114", + "UBERON:0007828", + "UBERON:0003840", + "UPHENO:0087974", + "UBERON:0004770", + "HP:0002644", + "UBERON:5002389", + "UPHENO:0087558", + "HP:0000271", + "UBERON:0005893", + "UBERON:0001712", + "UBERON:0001950", + "UBERON:0003826", + "UBERON:0016526", + "UPHENO:0010795", + "UBERON:0001805", + "HP:0002251", + "UBERON:0004121", + "HP:0000525", + "UPHENO:0088183", + "UPHENO:0020258", + "UPHENO:0087121", + "UBERON:0002410", ], "has_phenotype_closure_label": [ - "abnormal upper urinary tract", - "renal system", - "Abnormality of the kidney", - "cavitated compound organ", - "abnormal kidney", - "excretory system", - "Abnormality of the genitourinary system", - "abnormal renal system", - "Abnormality of the upper urinary tract", - "kidney", - "decreased size of the kidney", - "Renal hypoplasia", - "Abnormality of the urinary system", + "decreased biological_process in multicellular organism", + "decreased qualitatively pigmentation in independent continuant", + "Hypopigmentation of the skin", + "decreased qualitatively biological_process in independent continuant", + "decreased biological_process in skin of body", + "decreased biological_process in independent continuant", + "Thrombocytopenia", + "Abnormal platelet count", + "abnormally decreased number of platelet", + "abnormally decreased number of myeloid cell", + "abnormal blood cell", + "abnormal platelet", + "anucleate cell", + "secretory cell", + "obsolete cell", + "Abnormality of chromosome stability", + "Abnormal cellular physiology", + "decreased size of the multicellular organism", + "Abnormality of body height", + "serotonin secreting cell", + "abnormal size of multicellular organism", + "erythrocyte differentiation", + "myeloid cell differentiation", + "hemopoiesis", + "cellular developmental process", + "abnormal erythroid lineage cell morphology", + "erythroid lineage cell", + "Sideroblastic anemia", + "Abnormal myeloid cell morphology", + "immune system process", + "cellular process", + "homeostatic process", + "abnormal myeloid cell morphology", + "erythrocyte", + "myeloid cell", + "blood cell", + "abnormal erythrocyte morphology", + "Pyridoxine-responsive sideroblastic anemia", + "erythrocyte homeostasis", + "homeostasis of number of cells", + "oxygen accumulating cell", + "Anemia of inadequate production", + "radius bone", + "Abnormal morphology of the radius", + "aplasia or hypoplasia of radius bone", + "abnormal radius bone morphology", + "Neurodevelopmental delay", + "abnormal size of palpebral fissure", + "decreased length of palpebral fissure", + "Abnormal size of the palpebral fissures", + "Abnormality of immune system physiology", + "abnormality of immune system physiology", + "abnormally localised testis", + "abnormally localised anatomical entity in independent continuant", + "Cryptorchidism", + "ureter", + "Abnormal ureter morphology", + "Abnormality of the ureter", + "abnormal ureter morphology", + "Abnormal renal physiology", + "Hypopigmented skin patches", + "Abnormality of the urinary system physiology", + "abnormally decreased functionality of the gonad", + "Cleft palate", + "Craniofacial cleft", + "increased height of the anatomical entity", + "increased height of anatomical entity in independent continuant", + "High palate", + "Increased head circumference", + "increased size of the head", + "increased length of the epicanthal fold", + "upper eyelid", + "zone of skin", + "Epicanthus", + "skin of head", + "head or neck skin", + "abnormal skin of face morphology", + "skin of face", + "abnormal asymmetry of anatomical entity", + "abnormal shape of forehead", + "sloped anatomical entity", + "abnormal facial skeleton morphology", + "Hypoplastic facial bones", + "facial skeleton", + "facial bone", + "mandible", + "anatomical entity hypoplasia in face", + "bone of lower jaw", + "mandible hypoplasia", + "abnormal mandible morphology", + "Abnormal mandible morphology", + "lower jaw region", + "facial bone hypoplasia", + "decreased size of the mandible", + "bone element hypoplasia in face", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "decreased qualitatively sensory perception of mechanical stimulus", + "sloped forehead", + "sensory perception of mechanical stimulus", + "decreased sensory perception of sound", + "abnormal sensory perception of sound", + "Hearing abnormality", + "sensory perception of sound", + "decreased qualitatively sensory perception of sound", + "Abnormal conjugate eye movement", + "Strabismus", + "sensory perception of light stimulus", + "abnormal sensory perception of light stimulus", + "abnormal sensory perception", + "decreased qualitatively visual perception", + "visual perception", + "abnormally protruding eyeball of camera-type eye", + "cell development", + "abnormal size of eyeball of camera-type eye", + "Abnormality of globe size", + "Abnormality of eye movement", + "cranial nerve related reflex", + "Abnormal vestibulo-ocular reflex", + "Abnormal vestibular function", + "abnormality of ear physiology", + "abnormal eye movement", + "abnormal physiologic nystagmus", + "eye movement", + "abnormal vestibulo-ocular reflex", + "shape uterus", + "abnormal uterus", + "female organism", + "internal female genitalia", + "abnormal internal female genitalia morphology", + "Abnormality of the female genitalia", + "Aplasia/Hypoplasia of facial bones", + "bicornuate uterus", + "abnormal female reproductive system", + "oviduct", + "bicornuate anatomical entity", + "uterus", + "Abnormality of the uterus", + "abnormal anatomical entity morphology in the skeleton of manus", + "Abnormality of thumb phalanx", + "manual digitopodium bone", + "manual digit 1 phalanx", + "digit 1", + "Abnormal finger phalanx morphology", + "manus bone", + "excretory tube", + "manual digit 1 phalanx endochondral element", + "abnormal incomplete closing of the secondary palate", + "phalanx of manus", + "manual digit 1 digitopodial skeleton", + "abnormal visual perception", + "abnormal phalanx of manus morphology", + "abnormal manual digit 1 morphology", + "Triphalangeal thumb", + "manual digit 1", + "abnormal female reproductive system morphology", + "digit 1 digitopodial skeleton", + "skeleton of manual acropodium", + "skeleton of manual digitopodium", + "Bicornuate uterus", + "abnormal behavior", + "body part movement", + "neuromuscular process", + "voluntary musculoskeletal movement", + "kinesthetic behavior", + "increased qualitatively response to stimulus", + "abnormal voluntary musculoskeletal movement", + "Hyperreflexia", + "reflex", + "Abnormality of movement", + "Recurrent urinary tract infections", + "involuntary movement behavior", + "multicellular organismal movement", + "abnormal response to external stimulus", + "decreased embryo development", + "abnormal embryo development", + "Abnormal umbilicus morphology", + "Hernia", + "Hernia of the abdominal wall", + "Abnormality of connective tissue", + "abnormal umbilicus morphology", + "abnormal incomplete closing of the abdominal wall", + "Abnormality of the abdominal wall", + "umbilicus", + "connective tissue", + "herniated anatomical entity", + "herniated abdominal wall", + "response to external stimulus", + "Abnormality of the amniotic fluid", + "abnormal amniotic fluid", + "Abnormality of prenatal development or birth", + "Renal insufficiency", + "late embryo", + "Oligohydramnios", + "amniotic fluid", + "interatrial septum", + "abnormal cardiac atrium morphology in the independent continuant", + "Abnormal atrial septum morphology", + "abnormal cardiac atrium morphology", + "abnormal interatrial septum morphology", + "Abnormal ventricular septum morphology", + "metabolic process", + "Abnormal cardiac septum morphology", + "increased size of the heart right ventricle", + "interventricular septum", + "abnormal hematopoietic cell morphology", + "Abnormal connection of the cardiac segments", + "abnormally increased volume of anatomical entity", + "Ventricular hypertrophy", + "abnormal pulmonary valve morphology", + "Global developmental delay", + "reflexive behavior", + "Right ventricular hypertrophy", + "cardiac septum", + "Abnormal pulmonary valve physiology", + "abnormality of cardiovascular system physiology", + "skin of eyelid", + "Aplasia/Hypoplasia of the mandible", + "abnormal size of heart right ventricle", + "abnormal cardiac septum morphology", + "hypertrophic cardiac ventricle", + "hypertrophic heart right ventricle", + "Abnormal myocardium morphology", + "layer of muscle tissue", + "abnormal myocardium morphology", + "heart layer", + "abnormal abdominal wall", + "embryonic cardiovascular system", + "heart vasculature", + "response to stimulus", + "ductus arteriosus", + "abnormal coronary vessel morphology", + "abnormal number of anatomical enitites of type myeloid cell", + "thoracic segment blood vessel", + "coronary vessel", + "Patent ductus arteriosus", + "decreased pigmentation in multicellular organism", + "Congenital malformation of the great arteries", + "aplasia or hypoplasia of mandible", + "trunk blood vessel", + "abnormal incomplete closing of the ductus arteriosus", + "vasculature of organ", + "abnormal female reproductive organ morphology", + "abnormally decreased functionality of the anatomical entity", + "vasculature of trunk", + "heart blood vessel", + "bone of jaw", + "aortic system", + "aorta", + "great vessel of heart", + "Abnormal aortic morphology", + "flattened anatomical entity", + "longitudinal arch of pes", + "flattened anatomical entity in independent continuant", + "shape longitudinal arch of pes", + "Pes planus", + "flat anatomical entity", + "abnormally fused anatomical entity and pedal digit", + "Toe syndactyly", + "manual digit 1 plus metapodial segment", + "abnormal cerebral hemisphere morphology", + "neurocranium bone", + "vault of skull", + "female reproductive system", + "dermal skeleton", + "primary subdivision of skull", + "primary subdivision of cranial skeletal system", + "gray matter", + "dermal bone", + "aplasia or hypoplasia of skull", + "frontal lobe", + "pallium", + "neurocranium", + "cranial bone", + "bone of craniocervical region", + "intramembranous bone", + "membrane bone", + "Hearing impairment", + "abnormal neurocranium morphology", + "abnormal head bone morphology", + "abnormal shape of frontal cortex", + "abnormality of internal ear physiology", + "abnormal tetrapod frontal bone morphology", + "abnormal vault of skull", + "Puberty and gonadal disorders", + "central nervous system cell part cluster", + "lobe of cerebral hemisphere", + "cerebral hemisphere", + "forehead", + "abnormal great vessel of heart morphology", + "frontal cortex", + "abnormal response to stimulus", + "embryo development ending in birth or egg hatching", + "Abnormal form of the vertebral bodies", + "outflow part of left ventricle", + "vertebral column", + "vertebra", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "Abnormal heart valve morphology", + "abnormal neural tube morphology", + "anatomical structure formation involved in morphogenesis", + "abnormal aortic valve morphology", + "tube formation", + "neural tube", + "presumptive structure", + "Abnormality of the inner ear", + "abnormal vertebral column morphology", "face", - "Midface retrusion", + "aplasia or hypoplasia of manual digit", + "Abnormality of the vasculature", + "non-functional anatomical entity", + "Abnormal vertebral morphology", + "Vertebral arch anomaly", + "epithelium development", + "abnormal head", + "arterial system", + "Decreased bone element mass density", + "abnormal systemic arterial system morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal common carotid artery plus branches morphology", + "jaw region", + "artery", + "abnormal anatomical entity mass density", + "Spinal dysraphism", + "decreased qualitatively pigmentation", + "decreased multicellular organism mass", + "innominate bone", + "gray matter of forebrain", + "heart plus pericardium", + "Pulmonic stenosis", + "Abnormal peripheral nervous system morphology", + "Atypical behavior", + "Abnormal upper limb bone morphology", + "chemosensory system", + "abnormally decreased number of anatomical entity", + "Abnormality of the orbital region", + "roof of mouth", + "paralysed cranial nerve", + "Abnormal cranial nerve physiology", + "male germ cell", + "Aplasia/Hypoplasia of the uvula", + "Ocular anterior segment dysgenesis", + "decreased height of the multicellular organism", + "abnormal anatomical entity morphology in the pelvic complex", + "abnormal neocortex morphology", + "decreased biological_process", + "Eukaryota", + "Eumetazoa", + "Aplasia/Hypoplasia affecting the uvea", + "anterior uvea", + "vestibulo-auditory system", + "Abnormal right ventricle morphology", + "Clinodactyly", + "cranial neuron projection bundle", + "Abdominal wall defect", + "Almond-shaped palpebral fissure", + "Clubbing", + "head bone", + "shape digit", + "multi-tissue structure", + "bodily fluid", + "abnormal peripheral nervous system morphology", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "appendage girdle complex", "subdivision of head", - "anatomical entity hypoplasia in face", - "abnormal midface morphology", - "Abnormal midface morphology", - "bone marrow", - "bone marrow cell", - "myeloid cell", - "bone cell", - "abnormal bone marrow cell morphology", - "abnormal megakaryocyte morphology", - "Abnormal megakaryocyte morphology", + "Abnormal calvaria morphology", + "abnormal skeletal system", + "Abnormal morphology of ulna", + "Aplasia/Hypoplasia of the iris", + "mouth", + "spinal cord", + "appendicular skeleton", + "limb skeleton subdivision", + "Abnormal cell morphology", + "Abnormal palate morphology", + "forelimb long bone", + "abnormal size of skull", + "limb segment", + "abnormally formed anatomical entity", + "absent sperm", + "skeletal system", + "curved anatomical entity in independent continuant", + "hindlimb skeleton", + "endochondral bone", + "subdivision of skeleton", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "Abnormality of the skeletal system", + "Overriding aorta", + "trachea", + "Deviation of finger", + "Abnormality of limbs", + "Abnormal platelet morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "ulna endochondral element", + "abnormal shape of cornea", + "abnormal forebrain morphology", + "abnormal limb long bone morphology", + "eukaryotic cell", + "abnormal zone of skin morphology", + "pedal digitopodium bone", + "neural tube formation", + "anatomical conduit", + "abnormally formed anterior chamber of eyeball", + "Anal atresia", + "postcranial axial skeletal system", + "Clubbing of toes", + "Abnormal uvea morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal forelimb zeugopod morphology", + "zeugopod", + "skeletal element", + "paired limb/fin", + "abnormal semi-lunar valve morphology", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "bone element", + "pectoral appendage", + "deviation of manual digit 5 towards the middle", + "abnormal digestive system morphology", + "septum", + "Abnormality of limb bone morphology", + "Abnormal forearm bone morphology", + "root", + "Abnormal forebrain morphology", + "developing anatomical structure", + "skeleton of limb", + "forelimb zeugopod skeleton", + "prepuce", + "subdivision of oviduct", + "limb bone", + "pectoral appendage skeleton", + "Abnormal blood vessel morphology", + "cardiovascular system", + "blood vasculature", + "tube development", + "acropodium region", + "blood vessel", + "germ cell", + "outflow tract", + "Umbilical hernia", + "Arteriovenous malformation", + "abnormal connective tissue", + "Abnormal eye morphology", + "Abnormal long bone morphology", + "absent sperm in the semen", + "vasculature", + "embryonic morphogenesis", + "abnormal liver", + "decreased pigmentation in independent continuant", + "tissue development", + "venous blood vessel", + "abnormal vasculature", + "abnormal genitourinary system", + "abnormal musculoskeletal movement", + "changed developmental process rate", + "abnormal cardiovascular system", + "Abnormal reproductive system morphology", + "abnormal blood vessel morphology", + "abnormal parasympathetic nervous system morphology", + "abnormal embryo morphology", + "Abnormal venous morphology", + "Aplasia/Hypoplasia affecting the eye", + "Functional abnormality of male internal genitalia", + "vein", + "multi cell part structure", + "abnormal prepuce of penis morphology", + "myocardium", + "external ear", + "abnormal telencephalon morphology", + "Abnormality of the forehead", + "intromittent organ", + "organism", + "secondary palate", + "penis", + "Orofacial cleft", + "digestive system element", + "autopod bone", + "Neurodevelopmental abnormality", + "manual digit phalanx endochondral element", + "Abnormality of the immune system", + "abnormal skin of head morphology", + "abnormal neural tube closure", + "abnormal cardiovascular system morphology", + "Abnormality of mental function", + "nervous system process", + "Abnormal toe phalanx morphology", + "arch of centrum of vertebra", + "Metazoa", + "abnormal parasympathetic ganglion morphology", + "abnormality of internal male genitalia physiology", + "decreased length of forelimb zeugopod bone", + "limb endochondral element", + "abnormal brain ventricle/choroid plexus morphology", + "Abnormal cerebral ventricle morphology", + "structure with developmental contribution from neural crest", + "abnormal nervous system morphology", + "abnormal central nervous system morphology", + "Abnormal preputium morphology", + "Neural tube defect", + "organ system subdivision", + "Aplasia/Hypoplasia involving bones of the skull", + "tissue morphogenesis", + "abnormal brain ventricle morphology", + "skeletal joint", + "Abnormal cardiovascular system physiology", + "Abnormal cerebrospinal fluid morphology", + "forelimb bone", + "Abnormal uvula morphology", + "abnormally increased number of anatomical entity", + "ventricular system of central nervous system", + "Abnormal shape of the frontal region", + "central nervous system", + "abnormal arm", + "Abnormality of limb bone", + "autopod endochondral element", + "cognition", + "ventricular system of brain", + "shape anatomical entity", + "anatomical entity hypoplasia in independent continuant", + "Facial asymmetry", + "Abnormal leukocyte count", + "anatomical entity dysfunction in independent continuant", + "abnormal brain morphology", + "abnormal heart layer morphology", + "Abnormal frontal bone morphology", + "Abnormality of lower limb joint", + "Recurrent infections", + "Morphological central nervous system abnormality", + "organ component layer", + "Hydrocephalus", + "forelimb zeugopod bone", + "abnormal anus morphology", + "abnormally increased number of brain ventricle in the independent continuant", + "cerebrospinal fluid", + "abnormal nervous system", + "abnormally fused pedal digit and pedal digit", + "future central nervous system", + "nervous system development", + "abnormal manual digit morphology in the manus", + "material anatomical entity", + "abnormal internal naris", + "Cranial nerve paralysis", + "developmental process", + "abnormal ureter", + "absent anatomical entity in the independent continuant", + "manual digit 1 or 5", + "abdominal segment bone", + "abnormal forelimb morphology", + "abnormal autonomic nervous system", + "abnormal cornea, asymmetrically curved", + "Abnormal cellular immune system morphology", + "Abnormality of male external genitalia", + "abnormal forehead", + "abnormal voluntary movement behavior", "tissue", + "abnormal behavior process", + "abnormal axial skeleton plus cranial skeleton morphology", + "absent anatomical entity in the semen", + "subdivision of organism along appendicular axis", + "Abnormal male reproductive system physiology", + "abnormal cerebrospinal fluid morphology", + "zeugopodial skeleton", + "Small intestinal stenosis", + "male gamete generation", + "sexual reproduction", + "abnormal synovial joint of pelvic girdle morphology", + "embryo", + "Absent testis", + "exocrine system", + "Abnormality of the genitourinary system", + "Abnormality of the outer ear", + "abnormal gamete", + "quality", + "phenotype by ontology source", + "Abnormality of the male genitalia", + "Abnormality of blood and blood-forming tissues", + "abnormality of multicellular organism height", + "abnormal limb morphology", + "upper urinary tract", + "right cardiac chamber", + "manual digitopodium region", + "abnormal enteric nervous system morphology", + "anterior region of body", + "Abnormality of the upper limb", + "entity", + "Decreased anatomical entity mass", + "anatomical system", + "upper digestive tract", + "dorsum", + "cranial nerve", + "testis", + "reproductive structure", + "abnormal ulna morphology", + "gonad", + "Decreased anatomical entity mass density", + "ganglion", + "abnormal shape of external ear", + "opaque lens of camera-type eye", + "epithelial tube", + "Finger clinodactyly", + "iris", + "absent gamete", + "naris", + "mesoderm-derived structure", + "abnormal male reproductive system morphology", + "Abnormality of the gastrointestinal tract", + "internal male genitalia", + "digestive system", + "curved anatomical entity", + "decreased length of long bone", + "material entity", + "increased reflex", + "long bone", + "system development", + "abnormal multicellular organismal reproductive process", + "abnormal anatomical entity, asymmetrically curved", + "manual digit", + "abnormal reproductive process", + "abnormal shape of continuant", + "system process", + "male gamete", + "cell differentiation", + "abnormal cerebral cortex morphology", + "abnormal arch of centrum of vertebra", + "bone of appendage girdle complex", + "anatomical wall", + "abnormality of anatomical entity height", + "abnormal heart right ventricle morphology", + "neural crest-derived structure", + "epithelial tube formation", + "asymmetrically curved cornea", + "hindlimb", + "continuant", + "Intrauterine growth retardation", + "abnormal cornea morphology", + "entire sense organ system", + "lower urinary tract", + "Abnormality of globe location", + "Tracheoesophageal fistula", + "Abnormal cardiac atrium morphology", + "Neoplasm", + "Abnormal intestine morphology", + "organ", + "pedal digit plus metapodial segment", + "occurrent", + "abnormal male reproductive organ morphology", + "pedal digit phalanx endochondral element", + "integumental system", + "semen", + "abnormality of anatomical entity physiology", + "multicellular organismal reproductive process", + "Abnormality of the head", + "heart", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "sensory system", + "absent sperm in the independent continuant", + "pelvic region element", + "abnormal systemic artery morphology", + "male organism", + "abnormal hindlimb joint", + "reproduction", + "vessel", + "lateral structure", + "Microphthalmia", + "absent anatomical entity in the multicellular organism", + "Abnormal nasal morphology", + "postcranial axial skeleton", + "abnormal vein morphology", + "abnormal external ear morphology", + "decreased qualitatively developmental process", + "camera-type eye", + "All", + "Abnormal bone structure", + "male reproductive organ", + "abnormal blood cell morphology", + "abnormal cell", + "disconnected anatomical group", + "upper limb segment", + "biological_process", + "Aplasia/Hypoplasia affecting the anterior segment of the eye", + "Abnormality of the genital system", + "Abnormal facial shape", + "tube morphogenesis", + "leukocyte", + "delayed biological_process", + "systemic artery", + "organism substance", + "Abnormal heart valve physiology", + "changed biological_process rate", + "absent germ cell", + "Abnormal erythroid lineage cell morphology", + "abnormal peripheral nervous system", + "ear", + "transudate", + "Abnormal joint morphology", + "forelimb endochondral element", + "abnormal duodenum morphology", + "abnormal leukocyte morphology", + "Abnormal respiratory system physiology", + "multicellular organismal process", + "bone of pelvic complex", + "organ part", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormal hip joint morphology", + "neuron projection bundle", + "Abnormal spinal cord morphology", + "external male genitalia", + "abnormality of cranial nerve physiology", + "abnormal pigmentation", + "independent continuant", + "anatomical line between pupils", + "abnormal number of anatomical enitites of type anatomical entity", + "forelimb skeleton", + "immune system", + "endocrine system", + "decreased qualitatively reproductive process", + "gamete generation", + "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Abnormal ganglion morphology", + "hepatobiliary system", + "subdivision of skeletal system", + "Abnormal external genitalia", + "pulmonary valve", + "cellular organisms", + "vertebral element", + "viscus", + "bone of free limb or fin", + "abnormal pedal digit morphology", + "abnormal ear", + "Abnormality of reproductive system physiology", + "abnormal size of head", + "abnormal external genitalia", + "radius endochondral element", + "Abnormal renal morphology", + "abnormal gamete generation", + "Abnormality of the curvature of the cornea", + "cell", + "abnormal interventricular septum morphology", + "Abnormality of the mouth", + "abnormal ductus arteriosus morphology", + "Finger syndactyly", + "limb", + "respiratory system", + "hip joint", + "abnormal ear morphology", + "abnormal number of anatomical enitites of type sperm", + "Abnormality of the cardiovascular system", + "dorsal region element", + "abnormal opening of the anatomical entity", + "Abnormal systemic arterial morphology", + "multicellular anatomical structure", + "hematopoietic system", + "spermatogenesis", + "abnormal shape of palpebral fissure", + "abnormal cardiac atrium morphology in the heart", + "morphogenesis of embryonic epithelium", + "haploid cell", + "conceptus", + "abnormal vertebra morphology", + "internal genitalia", + "aplasia or hypoplasia of iris", + "Abnormality of skin pigmentation", + "abnormality of respiratory system physiology", + "prepuce of penis", + "concave 3-D shape anatomical entity", + "abnormal heart left ventricle morphology", + "leg bone", + "abnormal tracheobronchial tree morphology", + "abnormal external male genitalia", + "abnormal anatomical entity morphology in the brain", + "Abnormal ear morphology", + "abnormal craniocervical region", + "manual digit digitopodial skeleton", + "flat anatomical entity in independent continuant", + "cardiac ventricle", + "abnormal internal genitalia", + "ocular surface region", + "platelet", + "Growth abnormality", + "hip", + "primary neural tube formation", + "renal pelvis/ureter", + "male urethral meatus", + "reproductive organ", + "anus atresia", + "abnormal skull morphology", + "Short long bone", + "abnormality of nervous system physiology", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "abnormal aorta morphology", + "increased pigmentation in skin of body", + "Abnormality of the testis size", + "hip dislocation", "Abnormal cellular phenotype", - "Abnormal metencephalon morphology", - "abnormally formed cerebellum", - "Abnormal hindbrain morphology", - "hindbrain", - "cerebellum", - "metencephalon", - "Abnormal cerebellum morphology", - "abnormal cerebellum morphology", + "neural tube development", + "external genitalia", + "Hypertrophic cardiomyopathy", + "abnormal number of anatomical enitites of type cell", + "abnormal limb bone morphology", + "tunica fibrosa of eyeball", + "Abnormal appendicular skeleton morphology", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormality of the urinary system", + "abnormality of reproductive system physiology", + "abnormally localised anatomical entity", + "abnormal anatomical entity morphology in the skeleton of pelvic complex", + "Abnormal heart morphology", + "Proptosis", + "changed embryo development rate", + "hindlimb stylopod", + "Abnormal esophagus morphology", + "Anemia", + "morphological feature", + "Abnormality of metabolism/homeostasis", + "forelimb zeugopod", + "abnormal testis morphology", + "reproductive process", "abnormally formed anatomical entity in independent continuant", - "midface", - "segmental subdivision of hindbrain", - "abnormal metencephalon morphology", - "Abnormal cerebral subcortex morphology", - "Neurodegeneration", - "cerebral hemisphere white matter", - "white matter", - "abnormal cerebral subcortex morphology", - "white matter of telencephalon", - "central nervous system cell part cluster", - "cerebral subcortex", - "Atrophy/Degeneration affecting the central nervous system", - "anatomical entity degeneration", - "Leukoencephalopathy", - "abnormal brain white matter morphology", - "multi cell part structure", - "glandular system", + "body proper", + "abnormal respiratory tube morphology", + "Abnormal morphology of female internal genitalia", + "anatomical cluster", "blood", - "decreased secretion in independent continuant", - "abnormal cerebral hemisphere morphology", - "decreased qualitatively biological_process in central nervous system", - "abnormal biological_process in central nervous system", - "localization", - "cellular process", - "decreased growth hormone secretion", - "abnormal growth hormone secretion", - "hypothalamus-pituitary axis", - "kidney hypoplasia", - "regulation of biological quality", - "abnormal hindbrain morphology", - "abnormal blood chemical entity level", - "Abnormality of the anterior pituitary", - "Abnormal circulating hormone concentration", - "abnormal endocrine system", - "abnormal hypothalamus-pituitary axis", - "abnormal multicellular organism chemical entity level", + "phenotype", + "abnormal pigmentation in independent continuant", + "Abnormal involuntary eye movements", + "Abnormal tracheal morphology", + "process", + "subdivision of organism along main body axis", + "prominent forehead", + "abnormal incomplete closing of the arch of centrum of vertebra", + "segment of manus", + "Abnormality of the nose", + "developmental process involved in reproduction", + "Abnormal anterior chamber morphology", + "abnormal innominate bone morphology", + "aplasia or hypoplasia of anatomical entity", + "limb long bone", + "compound organ", + "eye", + "abnormal synovial joint morphology", "reproductive system", - "neuroendocrine system", - "signaling", - "transport", - "chemical entity", - "Abnormal endocrine physiology", - "Abnormal response to endocrine stimulation test", - "hormone transport", - "nitrogen compound transport", - "secretion", - "organic substance transport", - "signal release", - "reproductive organ", - "abnormal chemical entity level", - "regulation of hormone levels", - "Decreased response to growth hormone stimulation test", - "abnormality of endocrine system physiology", - "abnormal secretion by cell", - "megakaryocyte", - "Abnormal cell morphology", - "Abnormal endocrine morphology", - "abnormal endocrine gland morphology", - "abnormal cellular process", - "abnormal diencephalon morphology", - "gland of diencephalon", - "abnormal kidney morphology", - "decreased secretion in pituitary gland", - "decreased biological_process in pituitary gland", - "growth hormone secretion", - "diencephalon", - "cerebral hemisphere", - "pituitary gland", - "adenohypophysis", - "abnormal biological_process in independent continuant", - "abnormality of anatomical entity physiology", - "neuroendocrine gland", - "changed biological_process rate in independent continuant", - "Abnormality of limb bone morphology", - "peptide transport", - "changed biological_process rate in brain", - "abnormal localization", - "vasculature", - "subdivision of skeletal system", - "circulatory system", - "cardiovascular system", - "abnormal spleen", + "multi-limb segment region", + "ventricle of nervous system", + "paralysed anatomical entity", + "pelvic appendage", + "abnormal eyeball of camera-type eye", + "abnormal anterior uvea morphology", + "decreased size of the eyeball of camera-type eye", + "absent anatomical entity", + "cerebral cortex", + "tracheobronchial tree", + "malformed anatomical entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "Abnormality of the peripheral nervous system", + "trunk region element", + "skeleton of pectoral complex", + "specifically dependent continuant", + "abnormal autonomic nervous system morphology", + "ganglion of peripheral nervous system", + "Abnormal reflex", + "hindlimb joint", + "abnormal anatomical entity morphology", + "abnormally decreased number of anatomical entity in the independent continuant", + "Short palpebral fissure", + "Abnormal skeletal morphology", + "increased pigmentation", + "decreased spermatogenesis", + "anatomical structure development", + "arterial blood vessel", + "abnormal bone element mass density", + "main body axis", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Sloping forehead", + "abnormal manual digit 5 morphology", "non-connected functional system", + "external soft tissue zone", + "digit plus metapodial segment", + "head", + "Dolichocephaly", + "common carotid artery plus branches", + "drooping eyelid", + "Abnormal cardiac ventricle morphology", + "abnormal small intestine morphology", + "Abnormality of brain morphology", + "abnormal heart morphology", + "appendage girdle region", + "anatomical structure morphogenesis", + "abnormal limb bone", + "abnormal spinal cord morphology", + "Hypogonadism", + "arm bone", + "urethral opening", + "Aganglionic megacolon", + "Abnormal nervous system morphology", + "sense organ", + "abnormal reproductive system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "Abnormality of head or neck", + "abnormally fused manual digit and anatomical entity", + "abnormally decreased functionality of the myocardium", + "Abnormal peripheral nerve morphology by anatomical site", + "Syndactyly", + "abnormal head morphology", + "digestive tract", + "abnormality of camera-type eye physiology", + "organism subdivision", + "subdivision of digestive tract", + "Abnormal pinna morphology", + "abnormally protruding anatomical entity", + "abnormal respiratory system morphology", + "respiratory airway", + "abnormal secondary palate morphology", + "venous system", + "musculoskeletal movement", + "decreased qualitatively biological_process", + "anatomical entity", + "abnormal trachea morphology", + "abnormal phenotype by ontology source", + "subdivision of trunk", + "behavior process", + "anterior chamber of eyeball", + "abnormal development of anatomical entity", + "increased biological_process", + "abnormal postcranial axial skeleton morphology", + "Abnormal ventriculoarterial connection", + "alimentary part of gastrointestinal system", + "abnormal renal system morphology", "abnormal biological_process", - "multi-tissue structure", - "Abnormality of the cardiovascular system", - "viscus", - "abnormal skeletal system", - "peptide secretion", + "abnormal cardiac ventricle morphology in the heart", + "Growth delay", + "kidney", + "embryo development", + "brain gray matter", + "Abnormal tracheobronchial morphology", + "subdivision of tube", + "Abnormal respiratory system morphology", + "Abnormal lens morphology", + "Multiple cafe-au-lait spots", + "system", + "transparent eye structure", + "Abnormality of the respiratory system", + "girdle skeleton", + "asymmetrically curved anatomical entity", + "Abnormal eye physiology", + "segment of autopod", + "thoracic segment of trunk", + "pes bone", + "abnormal bone of pelvic complex morphology", + "arm", + "Short stature", + "Abnormality of the vertebral column", + "abnormal digestive system", + "Abnormality of the digestive system", + "decreased anatomical entity mass", + "Abnormal morphology of the great vessels", + "pectoral complex", + "flat longitudinal arch of pes", + "abnormal bone of pectoral complex morphology", + "orifice", + "craniocervical region", + "abnormal developmental process", + "Abnormality of cardiovascular system morphology", + "abnormal respiratory system", + "Abnormal penis morphology", + "Intellectual disability", + "abnormal ocular adnexa", + "embryonic structure", + "brain ventricle/choroid plexus", + "proximo-distal subdivision of respiratory tract", + "Cognitive impairment", + "abnormal male reproductive system", + "abnormal mouth morphology", + "organ subunit", + "Abnormal neural tube morphology", + "ectoderm-derived structure", + "Aplasia/Hypoplasia of the testes", + "left cardiac chamber", + "Slanting of the palpebral fissure", + "Hip dislocation", + "Morphological abnormality of the gastrointestinal tract", + "oral cavity", + "vestibulo-ocular reflex", + "neocortex", + "Abnormality of refraction", + "digit 5", + "abnormal long bone morphology", + "digitopodium bone", + "endoderm-derived structure", + "abnormal penis", + "germ line cell", + "bone element hypoplasia in independent continuant", + "abnormal artery morphology", + "respiratory tract", + "respiratory tube", + "glans", + "abnormality of male reproductive system physiology", + "tube", + "brain ventricle", + "future nervous system", + "skeleton", + "multicellular organism", + "thoracic cavity element", + "Nystagmus", + "esophagus", + "physiologic nystagmus", + "hemolymphoid system", + "Lower extremity joint dislocation", + "lower respiratory tract", + "visual system", + "abnormal camera-type eye morphology", + "cornea", + "abdominal wall", + "3-D shape anatomical entity", + "Abnormality of the ear", + "eyelid", + "abnormally decreased number of leukocyte", + "orbital region", + "multicellular organism development", + "Ventriculomegaly", + "Abnormal anterior eye segment morphology", + "abnormal anatomical entity", + "Abnormality of the upper urinary tract", + "abnormal bony vertebral centrum morphology", + "abnormal alimentary part of gastrointestinal system", + "Abnormal carotid artery morphology", + "Astigmatism", + "circulatory organ", + "uvea", + "shape cornea", + "paired limb/fin segment", + "pelvic girdle region", + "simple eye", + "abnormal posterior nasal aperture morphology", + "curvature anatomical entity", + "abnormal orbital region", + "morphogenesis of an epithelium", + "epithelial tube morphogenesis", + "abnormal palpebral fissure", + "abnormal tube formation", + "circulatory system", + "Spina bifida", + "Aplasia/hypoplasia involving bones of the extremities", + "multicellular organismal-level homeostasis", + "anterior segment of eyeball", + "chordate embryonic development", + "skeleton of digitopodium", + "embryonic epithelial tube formation", + "cranium", + "dermatocranium", + "Abnormal axial skeleton morphology", + "abnormal vertebral column", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "Abnormal ileum morphology", + "increased qualitatively biological_process in independent continuant", + "joint of girdle", + "neural tube closure", + "abnormal ileum morphology", + "abnormal eyelid morphology", + "manus", + "abnormal nose morphology", + "embryonic tissue", + "ileum", + "Ventricular septal defect", + "small intestine", + "Abnormal jaw morphology", + "irregular bone", + "Meckel diverticulum", + "trunk bone", + "Azoospermia", + "Abnormal small intestine morphology", + "skeleton of lower jaw", + "abnormal small intestine", + "anus", + "Abnormal skull morphology", + "Abnormal anus morphology", + "Abnormal ear physiology", + "ecto-epithelium", + "abnormal closing of the anatomical entity", + "abnormal anus", + "Abnormal spermatogenesis", + "anatomical entity atresia", + "abnormally fused manual digit and manual digit", + "sensory perception", + "Abnormality of corneal shape", + "abnormality of anatomical entity mass", + "abnormality of multicellular organism mass", + "Abnormality of body weight", + "Weight loss", + "Decreased body weight", + "autopodial extension", + "growth", + "cardiac valve", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal craniocervical region morphology", + "abnormal growth", + "pelvic complex", + "Abnormality of the skin", + "outflow tract of ventricle", + "Abnormality of the choanae", + "abnormal iris morphology", + "abnormal cardiac ventricle morphology in the independent continuant", + "abnormal forelimb zeugopod bone", + "valve", + "abnormal platelet morphology", + "abnormal anatomical entity morphology in the manus", + "increased length of the anatomical entity", + "Cafe-au-lait spot", + "thoracic cavity blood vessel", + "aortic valve", + "abnormal internal ear", + "abnormal outflow part of left ventricle morphology", + "abnormal anatomical entity morphology in the heart", + "curvature anatomical entity in independent continuant", + "hypothalamus-pituitary axis", + "endochondral element", + "anatomical entity hypoplasia", + "abnormal cardiac ventricle morphology", + "motile cell", + "abnormal leg", + "internal ear", + "heart left ventricle", + "epithelium", + "autopodial skeleton", + "abnormal cardiac valve morphology in the independent continuant", + "Opisthokonta", + "Abnormality of digestive system morphology", + "Abnormality of the ocular adnexa", + "gamete", + "upper jaw region", + "Abnormal eyelid morphology", + "Abnormal facial skeleton morphology", + "multi organ part structure", + "increased length of the anatomical line between pupils", + "palpebral fissure", + "Abnormal ocular adnexa morphology", + "Upslanted palpebral fissure", + "manual digit plus metapodial segment", + "Abnormal bone ossification", + "female reproductive organ", + "ocular adnexa", + "obsolete multicellular organism reproduction", + "decreased developmental process", + "Abnormality of the palpebral fissures", + "Abnormal testis morphology", + "deviation of anatomical entity towards the middle", + "opaque anatomical entity", + "heart right ventricle", + "increased size of the anatomical entity", + "lens of camera-type eye", + "Cataract", + "abnormal lens of camera-type eye morphology", + "Atrial septal defect", + "drooping anatomical entity", + "clavate digit", + "shape eyelid", + "Ptosis", + "Abnormal cornea morphology", + "gland", + "abnormal artery morphology in the independent continuant", + "Abnormality iris morphology", + "abnormal penis morphology", + "abnormal cranium morphology", + "myeloid cell homeostasis", + "glans penis", + "Neoplasm by anatomical site", + "olfactory system", + "Abnormality of the nervous system", + "pedal digit digitopodial skeleton", + "pelvic region of trunk", + "bony vertebral centrum", + "abnormal olfactory system morphology", + "abnormal nose", + "sperm", + "internal naris", + "olfactory organ", + "cranial skeletal system", + "nose", + "endocrine gland", + "posterior nasal aperture", + "decreased size of the anatomical entity in the pectoral complex", + "musculature of body", + "nerve of head region", + "internal naris atresia", + "Abnormal male urethral meatus morphology", + "male urethra", + "posterior nasal aperture atresia", + "Hypospadias", + "epicanthal fold", + "hindlimb long bone", + "excretory system", + "abnormal urethra", + "renal system", + "abnormal lower urinary tract", + "segment of pes", + "voluntary movement behavior", + "Renal hypoplasia/aplasia", + "thoracic segment organ", + "urethra", + "gray matter of telencephalon", + "urethral meatus", + "nervous system", + "abnormal face", + "Displacement of the urethral meatus", + "abnormally fused anatomical entity and manual digit", + "abnormal renal system", + "Abnormality of the urethra", + "abnormal limb", + "immaterial entity", + "Abnormality of the lower urinary tract", + "abnormal spermatogenesis", + "Abnormal shape of the palpebral fissure", + "Scoliosis", + "Abnormal curvature of the vertebral column", + "tube closure", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormality of the abdominal organs", + "autopod region", + "Abnormal forearm morphology", + "Abnormality of enteric nervous system morphology", + "regional part of nervous system", + "Abnormal midface morphology", + "Deviation of the 5th finger", + "regional part of brain", + "Visual impairment", + "ulna", "abdomen", + "deviation of manual digit towards the middle", + "Abnormal vascular morphology", + "Abnormality of skull size", + "Abnormal pulmonary valve morphology", + "abnormal anterior chamber of eyeball morphology", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "telencephalon", + "Decreased head circumference", + "abnormality of renal system physiology", + "abnormal esophagus morphology", + "abnormal size of anatomical entity", + "Leukopenia", + "abnormal hematopoietic system", + "abnormal ocular adnexa morphology", + "abnormally decreased number of hematopoietic cell", + "semi-lunar valve", + "hematopoietic cell", + "nucleate cell", + "abnormal uvea morphology", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal number of anatomical enitites of type hematopoietic cell", + "digit 1 plus metapodial segment", + "synovial joint", + "Abnormality of the anus", "abnormal immune system", + "pedal digitopodium region", + "abnormally decreased number of cell", + "Functional abnormality of the inner ear", + "pedal digit", + "haemolymphatic fluid", + "abnormally decreased number of leukocyte in the blood", + "axial skeleton plus cranial skeleton", + "Abnormal leukocyte morphology", + "abnormal number of anatomical entities of type anatomical entity in blood", + "abnormal kidney", + "abnormal number of anatomical enitites of type leukocyte", + "Abnormality of thrombocytes", + "Abnormal immune system morphology", + "abnormally decreased number of anatomical entity in the multicellular organism", + "digit 5 plus metapodial segment", + "Myelodysplasia", + "abnormal immune system morphology", + "Hematological neoplasm", + "Reduced bone mineral density", + "abnormal size of brain ventricle", + "nerve", + "Frontal bossing", + "zone of organ", + "increased size of the brain ventricle", + "Abnormality of vision", + "Non-obstructive azoospermia", + "increased size of the anatomical entity in independent continuant", + "central nervous system gray matter layer", + "chamber of eyeball", + "pedal digit bone", + "cardiac atrium", + "Abnormality of the integument", + "delayed growth", "Abnormality of the endocrine system", - "lymphoid system", - "Abnormality of the vasculature", - "abnormal brain ventricle/choroid plexus morphology", - "abnormally increased number of spleen", - "disconnected anatomical group", - "Abnormal upper limb bone morphology", - "abnormal lymphatic part of lymphoid system", - "malformed anatomical entity", - "autopodial skeleton", - "Supernumerary spleens", - "Abnormality of the immune system", - "abnormal cardiovascular system", - "abnormal diencephalon", - "abdominal viscera", - "subdivision of trunk", + "forelimb", + "skeleton of pelvic complex", + "abnormal endocrine system", + "abdominal segment of trunk", + "Conotruncal defect", + "digestive system gland", + "musculoskeletal system", + "abdominal segment element", + "glandular system", + "jaw skeleton", + "abnormal uterus morphology", + "hindlimb bone", + "exocrine gland", + "Decreased fertility", + "behavior", "abdomen element", - "endocrine gland", - "abnormal vasculature", - "pectoral complex", - "abnormal development of anatomical entity", - "trunk region element", - "intestine atresia", - "abnormal spleen morphology", - "changed embryo development rate", - "Abnormal cerebral white matter morphology", - "Intrauterine growth retardation", - "hemopoietic organ", - "developmental process", - "aplasia or hypoplasia of radius bone", - "main body axis", - "cellular organisms", - "abnormal adenohypophysis", - "multicellular organismal process", - "abnormal embryo development", - "Abnormality of bone marrow cell morphology", - "anatomical structure development", - "changed biological_process rate", - "decreased developmental process", - "growth", - "increased size of the anatomical entity in independent continuant", - "subdivision of skeleton", - "protein-containing material entity", - "biological_process", - "embryo development", - "delayed biological_process", - "Abnormal radial ray morphology", - "abnormal anatomical entity morphology in the manus", - "Abnormality of the face", - "Phenotypic abnormality", - "abnormal digit morphology", - "cell communication", - "central nervous system", - "absent anatomical entity", - "acropodium region", - "Finger aplasia", + "Abnormality of the liver", + "liver", + "abnormal hypothalamus-pituitary axis", + "increased anatomical entity length in independent continuant", + "Hypertelorism", + "abnormally fused pedal digit and anatomical entity", + "abnormal location of anatomical entity", + "Cardiomyopathy", + "flat bone", + "immaterial anatomical entity", + "abnormal anatomical entity, curved", + "anatomical line", + "non-material anatomical boundary", + "abnormal anatomical entity topology in independent continuant", + "abnormal anatomical entity length", + "cavitated compound organ", + "Abnormal duodenum morphology", + "duodenum", + "Abnormality of the lower limb", + "skeleton of pedal digitopodium", + "skeleton of pedal acropodium", + "vertebral centrum element", + "pelvic appendage skeleton", + "hindlimb endochondral element", + "skeleton of pes", + "abnormal incomplete closing of the interventricular septum", + "Abnormal toe morphology", + "pes", + "abnormal phalanx morphology", + "Choanal atresia", + "acropodial skeleton", "digitopodium region", - "abnormal anatomical entity morphology in the independent continuant", - "segment of manus", - "secretion by cell", - "manual digit 1", - "skeleton", - "Absent thumb", - "Abnormality of the diencephalon", - "Abnormality of skull size", + "3-D shape anatomical entity in independent continuant", "Abnormal digit morphology", - "decreased biological_process in independent continuant", - "abnormal manual digit morphology in the manus", - "aplasia or hypoplasia of manual digit", - "autopodial extension", - "digit plus metapodial segment", - "abnormal role blood level", - "hormone secretion", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal periventricular white matter morphology", - "brain ventricle", - "Abnormal spleen morphology", - "changed developmental process rate", - "manual digitopodium region", - "Renal hypoplasia/aplasia", - "abnormal secretion in independent continuant", - "abnormal number of anatomical enitites of type anatomical entity", - "radius endochondral element", - "abnormal immune system morphology", - "Hematological neoplasm", - "Forearm undergrowth", - "Aplasia/Hypoplasia of fingers", - "regulation of biological process", - "Abnormal thumb morphology", - "reproductive structure", - "manual digit 1 or 5", - "Abnormal hand morphology", + "Duodenal stenosis", + "Abnormal foot morphology", + "Hypermelanotic macule", + "digit", + "abnormal hindlimb morphology", + "clavate anatomical entity", + "Hydroureter", + "Abnormal uterus morphology", + "Abnormal oral morphology", + "abnormal digit morphology", + "shape forehead", + "posterior region of body", + "individual digit of digitopodial skeleton", + "phalanx endochondral element", + "abnormal forehead morphology", + "Abnormal lower limb bone morphology", "abnormal digit", - "absent manual digit", - "digit 1 or 5", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal face", - "aplastic anatomical entity", - "subdivision of organism along main body axis", + "leg", + "abnormally decreased number of anatomical entity in the blood", + "phalanx of pes", + "phalanx", + "abnormal skeletal system morphology", + "lower limb segment", + "abnormal autopod region morphology", + "nervous system cell part layer", + "aplasia or hypoplasia of uvea", + "abnormal pes morphology", + "abnormal phalanx of pes morphology", + "genitourinary system", + "Limb undergrowth", + "Abnormality of the kidney", + "abnormal kidney morphology", + "skull", + "femur", + "Decreased fertility in males", + "primary circulatory organ", + "aplasia or hypoplasia of palatine uvula", + "abnormal joint of girdle morphology", + "anatomical projection", + "Abnormal aortic valve morphology", + "midface", + "abnormal soft palate morphology", + "abnormal mouth", + "Abnormal soft palate morphology", + "shape palpebral fissure", + "abnormal palatine uvula morphology", + "anatomical cavity", + "abnormal midface morphology", + "palatine uvula", + "Abnormal erythrocyte morphology", + "soft palate", + "abnormal oral cavity morphology", + "Abnormal oral cavity morphology", + "abnormal asymmetry of face", + "abnormal integument", + "abnormal cardiac valve morphology", + "Localized skin lesion", + "Abnormal 5th finger morphology", + "Abnormal thumb morphology", + "aplasia or hypoplasia of ulna", + "manual digit bone", + "abnormal biological_process in independent continuant", + "non-functional kidney", + "decreased size of the anatomical entity", + "Abnormal cerebral cortex morphology", + "forebrain", + "increased qualitatively biological_process", + "abnormal cell morphology", + "anatomical collection", + "Macule", + "eyeball of camera-type eye", + "abnormal upper urinary tract", + "abnormal skin of body", + "abnormal nerve", + "abnormally increased number of anatomical entity in the independent continuant", + "limb joint", + "Hyperpigmentation of the skin", + "Abnormality of skin morphology", + "integument", + "abnormality of kidney physiology", + "changed biological_process rate in independent continuant", + "increased biological_process in independent continuant", + "ulna hypoplasia", + "increased biological_process in skin of body", + "abnormal cornea, curved", + "pigmentation", + "increased pigmentation in independent continuant", + "skeleton of manus", + "abnormal cardiac valve morphology in the heart", "Abnormality of the hand", - "Aplasia/Hypoplasia of the thumb", - "agenesis of anatomical entity", - "manual digit", - "brain white matter", - "abdominal segment element", - "absent digit", - "Anterior hypopituitarism", - "abnormal endocrine system morphology", + "bone of hip region", + "Aplasia/hypoplasia of the extremities", + "Aplasia/Hypoplasia of fingers", + "abnormal manus", + "decreased pigmentation in skin of body", + "Abnormal finger morphology", + "Aplasia/hypoplasia involving bones of the hand", + "Aplasia/hypoplasia involving the skeleton", + "abnormal manus morphology", + "vascular system", + "abnormal anterior segment of eyeball morphology", + "aplasia or hypoplasia of skeleton", + "male reproductive system", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "Abnormal internal genitalia", + "abnormally fused anatomical entity and digit", + "abnormal developmental process involved in reproduction", + "abnormally fused digit and anatomical entity", + "appendage", + "abnormally fused digit and digit", + "Clinodactyly of the 5th finger", + "anatomical space", + "abnormally fused anatomical entity and anatomical entity", + "biogenic amine secreting cell", + "ossification", + "Abnormality of bone mineral density", + "manual digit 5", + "cardiac chamber", + "abnormal spatial pattern of anatomical entity", + "appendicular skeletal system", + "abnormal location of eyeball of camera-type eye", + "deviation of manual digit 5", "trunk", - "digit 1 plus metapodial segment", - "anatomical wall", - "abnormal brain ventricle morphology", - "abnormal size of brain ventricle", - "Ventriculomegaly", - "zeugopodial skeleton", - "ventricle of nervous system", - "Morphological abnormality of the gastrointestinal tract", - "abnormally increased number of anatomical entity in the independent continuant", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal cerebral ventricle morphology", - "ventricular system of central nervous system", - "increased size of the anatomical entity", - "haemolymphatic fluid", - "ventricular system of brain", - "absent anatomical entity in the independent continuant", - "subdivision of organism along appendicular axis", - "forelimb", - "decreased biological_process", - "Abnormal appendicular skeleton morphology", - "radius bone hypoplasia", - "peptide hormone secretion", + "manual digit 5 plus metapodial segment", + "digit 1 or 5", + "deviation of digit towards the middle", + "abnormal late embryo", + "Deviation of the hand or of fingers of the hand", + "Abnormality of the hypothalamus-pituitary axis", + "deviation of anatomical entity", + "deviation of manual digit", + "paired limb/fin skeleton", + "Abnormal nervous system physiology", + "Hypoplasia of the ulna", + "hypertrophic multicellular anatomical structure", + "dermal skeletal element", + "decreased length of anatomical entity in independent continuant", + "decreased height of the anatomical entity", + "Abnormality of the eye", + "decreased size of the ulna", + "forelimb zeugopod bone hypoplasia", + "Upper limb undergrowth", + "abnormal incomplete closing of the interatrial septum", + "intestine", + "Decreased multicellular organism mass", + "Aplasia/Hypoplasia of the ulna", + "aplasia or hypoplasia of telencephalon", + "decreased size of the anatomical entity in the independent continuant", + "Short forearm", + "increased height of the secondary palate", + "Tetralogy of Fallot", + "Forearm undergrowth", + "Aplasia/hypoplasia involving forearm bones", + "articulation", + "skeletal joint dislocation", + "articular system", + "peripheral nervous system", + "abnormal hip joint morphology", + "pelvic girdle skeleton", + "pelvic girdle bone/zone", + "systemic arterial system", + "Abnormal cerebral morphology", + "Joint dislocation", + "Micrognathia", + "anatomical entity dislocation", + "Abnormal localization of kidney", + "abnormal skeletal joint morphology", + "skin of body", + "cerebral hemisphere gray matter", + "abnormal pelvic girdle bone/zone morphology", + "abnormal embryonic tissue morphology", + "zone of bone organ", + "Abnormal hip bone morphology", + "Aplasia/Hypoplasia of the radius", + "Abnormal pelvic girdle bone morphology", + "abnormal external ear", + "girdle bone/zone", + "abnormal jaw skeleton morphology", + "Abnormality of the face", + "synovial joint of pelvic girdle", + "abnormal hindlimb stylopod morphology", + "Abnormality of femur morphology", + "abnormal femur morphology", + "dentary", + "femur endochondral element", + "stylopod", + "upper leg bone", + "Abnormality of enteric ganglion morphology", + "Unusual infection", + "abnormal enteric ganglion morphology", + "Abnormal autonomic nervous system morphology", + "abnormal skin of body morphology", + "Abnormal peripheral nervous system ganglion morphology", + "enteric ganglion", + "abnormal face morphology", + "axial skeletal system", + "abnormal intestine morphology", + "autonomic ganglion", + "parasympathetic nervous system", + "Abnormality of the autonomic nervous system", + "autonomic nervous system", + "Abnormal hand morphology", + "abnormal ganglion of peripheral nervous system morphology", + "parasympathetic ganglion", + "enteric nervous system", + "abnormal ocular surface region morphology", + "abnormal ganglion morphology", + "abnormal vascular system morphology", + "cortex of cerebral lobe", + "abnormal frontal cortex morphology", + "tetrapod frontal bone", + "abnormal roof of mouth morphology", + "prominent anatomical entity", + ], + }, + { + "id": "MONDO:0060778", + "category": "biolink:Disease", + "name": "adult Fanconi syndrome", + "xref": ["NCIT:C4377"], + "provided_by": "phenio_nodes", + "description": "Probably related to a recessive gene, this is Fanconi Syndrome, characterized by adult onset.", + "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"], + "namespace": "MONDO", + "has_phenotype": ["HP:0003581"], + "has_phenotype_label": ["Adult onset"], + "has_phenotype_count": 1, + "has_phenotype_closure": ["HP:0003581", "HP:0012823", "HP:0000001", "HP:0003674", "HP:0031797"], + "has_phenotype_closure_label": [ + "Clinical course", + "All", + "Adult onset", + "Clinical modifier", + "Onset", + ], + }, + { + "id": "MONDO:0009217", + "category": "biolink:Disease", + "name": "Fanconi-like syndrome", + "xref": ["DOID:0090066", "MESH:C536855", "OMIM:227850", "SCTID:236469003", "UMLS:C0151638"], + "provided_by": "phenio_nodes", + "description": "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.", + "synonym": ["Fanconi-like syndrome"], + "namespace": "MONDO", + "has_phenotype": ["HP:0002754", "HP:0002783", "HP:0005939", "HP:0001876", "HP:0007606"], + "has_phenotype_label": [ + "Osteomyelitis", + "Recurrent lower respiratory tract infections", + "Multiple bilateral pneumothoraces", + "Pancytopenia", + "Multiple cutaneous malignancies", + ], + "has_phenotype_count": 5, + "has_phenotype_closure": [ + "HP:0001574", + "UBERON:0004121", + "HP:0007606", + "HP:0011793", + "UBERON:0002097", + "UBERON:0002199", + "UBERON:0002416", + "HP:0002664", + "UPHENO:0002635", + "UPHENO:0085302", + "HP:0032251", + "HP:0001876", + "UPHENO:0085195", + "UPHENO:0084928", + "UPHENO:0076675", + "CL:0002242", + "UPHENO:0086005", + "CL:0000219", + "CL:0001035", + "UBERON:0002193", + "CL:0000225", + "CL:0000255", + "UPHENO:0011498", + "HP:0025354", + "CL:0000151", + "HP:0011873", + "UBERON:0002371", + "UPHENO:0087123", + "HP:0011842", + "UPHENO:0063722", + "HP:0001872", + "HP:0012145", + "UPHENO:0084987", + "UPHENO:0085068", + "UPHENO:0006910", + "UPHENO:0086049", + "UPHENO:0085118", + "UPHENO:0086172", + "UBERON:0000479", + "HP:0005561", + "UPHENO:0087355", + "HP:0011875", + "UPHENO:0088166", + "UPHENO:0076703", + "CL:0002092", + "UPHENO:0085144", + "HP:0011893", + "HP:0020047", + "UPHENO:0004459", + "CL:0000233", + "CL:0000232", + "CL:0000458", + "CL:0000763", + "UPHENO:0085371", + "CL:0000457", + "CL:0000738", + "UPHENO:0086045", + "UPHENO:0085984", + "UPHENO:0077426", + "UPHENO:0086173", + "NCBITaxon:33154", + "NCBITaxon:6072", + "BFO:0000020", + "BFO:0000015", + "HP:0008069", + "UBERON:0001474", + "HP:0005939", + "CL:0000000", + "UPHENO:0054970", + "HP:0002719", + "BFO:0000004", + "UBERON:0001005", + "UPHENO:0080377", + "UBERON:0001062", + "UBERON:0000042", + "UBERON:0002204", + "UBERON:0004765", + "UBERON:0034923", + "UPHENO:0081440", + "BFO:0000040", + "UPHENO:0074624", + "UBERON:0015212", + "UPHENO:0083263", + "UBERON:0000468", + "UPHENO:0001005", + "UBERON:0002390", + "GO:0006954", + "HP:0002754", + "HP:0010978", + "UPHENO:0002964", + "HP:0000951", + "HP:0012252", + "GO:0006952", + "HP:0002715", + "UBERON:0000025", + "CL:0000329", + "HP:0012647", + "UPHENO:0081590", + "UPHENO:0003811", + "UPHENO:0082682", + "UPHENO:0049587", + "HP:0010987", + "UBERON:0000977", + "HP:0000924", + "BFO:0000002", + "PATO:0000001", + "UBERON:0000915", + "BFO:0000001", + "UPHENO:0080662", + "UBERON:0004120", + "UPHENO:0001002", + "UPHENO:0074687", + "UPHENO:0080693", + "UPHENO:0080221", + "UPHENO:0074685", + "UBERON:0000481", + "UPHENO:0002332", + "HP:0033127", + "UPHENO:0059829", + "UBERON:0002405", + "NCBITaxon:2759", + "UBERON:0000061", + "HP:0001881", + "UPHENO:0085344", + "HP:0002205", + "UBERON:0000065", + "UBERON:0000467", + "UBERON:0002100", + "UBERON:0011216", + "UBERON:0001434", + "HP:0011843", + "HP:0002088", + "UPHENO:0001003", + "HP:0000118", + "UBERON:0000064", + "UPHENO:0086908", + "UPHENO:0001001", + "UPHENO:0002263", + "UPHENO:0082875", + "UBERON:0010000", + "CL:0000764", + "UPHENO:0074572", + "NCBITaxon:1", + "UPHENO:0002948", + "UPHENO:0049588", + "UPHENO:0002536", + "UPHENO:0002448", + "UBERON:0015203", + "UBERON:0005906", + "CL:0000988", + "UBERON:0000465", + "UPHENO:0082723", + "UPHENO:0015280", + "UPHENO:0085070", + "UPHENO:0076692", + "UBERON:0001004", + "UBERON:0013522", + "BFO:0000003", + "PR:000050567", + "UPHENO:0087339", + "UPHENO:0087433", + "UPHENO:0076684", + "UBERON:0001558", + "UBERON:0013701", + "CL:0000081", + "UBERON:0009569", + "UBERON:0000475", + "UPHENO:0020748", + "UBERON:0000062", + "HP:0002086", + "HP:0002783", + "UPHENO:0004536", + "UBERON:0003103", + "GO:0050896", + "UPHENO:0049584", + "HP:0012649", + "UBERON:0000060", + "UBERON:0011676", + "UBERON:0000072", + "HP:0011947", + "OBI:0100026", + "UPHENO:0020584", + "HP:0000001", + "UBERON:0004111", + "UBERON:0005178", + "HP:0032101", + "HP:0001871", + "UPHENO:0049586", + "UPHENO:0075696", + "HP:0002103", + "UBERON:0005181", + "HP:0025461", + "UPHENO:0085189", + "NCBITaxon:33208", + "UBERON:0000077", + "UBERON:0002075", + "HP:0001873", + "UBERON:0013702", + "UPHENO:0019970", + "GO:0008150", + "HP:0002795", + "UBERON:0034925", + "UBERON:0002048", + "UBERON:0000171", + "UBERON:0005177", + "UBERON:0004119", + "UBERON:0000170", + "HP:0002107", + "GO:0006950", + "NCBITaxon:131567", + "UBERON:0009778", + ], + "has_phenotype_closure_label": [ + "Abnormality of the skin", + "Multiple cutaneous malignancies", + "Neoplasm of the skin", + "integumental system", + "Neoplasm", + "Neoplasm by anatomical site", + "cell", + "Pancytopenia", + "Abnormal immune system morphology", + "serotonin secreting cell", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal bone marrow cell", + "Abnormal cell morphology", + "abnormally decreased number of anatomical entity", + "Abnormality of blood and blood-forming tissues", + "abnormal hematopoietic cell morphology", + "bone marrow", + "abnormal bone marrow cell morphology", + "skeletal element", "abnormal hematopoietic system morphology", - "cerebral hemisphere white matter degeneration", - "Aplasia/hypoplasia involving the skeleton", - "Short long bone", - "pectoral appendage", - "bodily fluid", - "cell-cell signaling", - "abnormal anatomical entity morphology in the pectoral complex", - "amide transport", - "anatomical entity hypoplasia", + "abnormally decreased number of cell", + "bone element", + "abnormal myeloid cell morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormally decreased number of platelet", + "abnormal number of anatomical enitites of type platelet", + "platelet", + "Abnormal cellular immune system morphology", + "erythrocyte", + "leukocyte", + "Abnormal cellular phenotype", + "abnormal platelet", + "Abnormality of bone marrow cell morphology", + "bone cell", + "nucleate cell", + "oxygen accumulating cell", + "hemolymphoid system", + "hematopoietic cell", + "Abnormal leukocyte count", + "secretory cell", + "abnormal hematopoietic system", + "abnormal leukocyte morphology", + "increased biological_process in bone element", + "increased biological_process in independent continuant", + "changed biological_process rate in independent continuant", + "abnormal skeletal system morphology", + "Abnormality of the musculoskeletal system", + "Eukaryota", + "bone marrow cell", + "hematopoietic system", + "Abnormality of the skeletal system", + "anatomical entity", + "Abnormal inflammatory response", + "abnormal integument", + "abnormal biological_process", + "increased inflammatory response", + "increased inflammatory response in bone element", + "abnormally decreased number of myeloid cell", + "compound organ", + "abnormal anatomical entity", + "occurrent", + "Osteomyelitis", + "anucleate cell", + "phenotype by ontology source", + "abnormal cell", + "Abnormal respiratory system physiology", + "increased qualitatively biological_process in independent continuant", + "anatomical structure", + "anatomical conduit", + "increased qualitatively response to stimulus", + "Thrombocytopenia", + "Abnormality of immune system physiology", + "viscus", + "abnormal immune system morphology", + "Eumetazoa", + "defense response", + "Abnormality of the integument", + "protein-containing material entity", + "motile cell", + "independent continuant", + "material entity", + "abnormal phenotype by ontology source", "phenotype", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "continuant", - "aplastic manual digit 1", - "abnormal limb long bone morphology", - "abnormal neuroendocrine gland morphology", - "Abnormal growth hormone level", - "Abnormal nervous system morphology", - "forelimb zeugopod", - "midface hypoplasia", - "multi-limb segment region", - "immune organ", - "endochondral element", - "abnormal growth", - "abnormal face morphology", - "forelimb zeugopod skeleton", + "biological_process", + "quality", "abnormal cell morphology", - "limb bone", - "decreased biological_process in multicellular organism", - "forelimb endochondral element", - "abnormal hormone independent continuant level", - "pectoral appendage skeleton", - "Abnormality of the spleen", - "abnormally increased number of anatomical entity in the abdomen", - "Abnormal morphology of the radius", - "bone of free limb or fin", - "decreased size of the anatomical entity in the independent continuant", - "digit", - "Abnormality of the skeletal system", - "abdominal segment of trunk", - "abnormal limb", - "abnormal arm", - "brain ventricle/choroid plexus", - "abnormal forelimb zeugopod bone", - "abnormal forelimb morphology", - "system", - "export from cell", - "abnormal biological_process in nervous system", - "abnormal limb bone morphology", - "abnormal forelimb zeugopod morphology", - "Aplasia/hypoplasia of the extremities", - "Polysplenia", - "decreased length of forelimb zeugopod bone", - "absent anatomical entity in the limb", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "Abnormality of the upper limb", + "myeloid cell", + "immune system", + "root", + "Increased inflammatory response", + "tissue", + "continuant", "entity", - "abnormal long bone morphology", - "Abnormal forearm bone morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "skeleton of pectoral complex", - "Abnormality of the nervous system", - "appendicular skeletal system", - "Eukaryota", - "forebrain", - "paired limb/fin segment", - "Aplasia/hypoplasia involving forearm bones", + "disconnected anatomical group", + "abnormal number of anatomical enitites of type cell", + "increased inflammatory response in independent continuant", + "trunk", + "abnormality of musculoskeletal system physiology", + "abnormal blood cell morphology", + "Phenotypic abnormality", + "abnormality of immune system physiology", + "multicellular organism", + "Abnormal myeloid cell morphology", + "changed biological_process rate", + "Abnormal platelet morphology", + "abnormal anatomical entity morphology", + "lateral structure", + "skin of body", + "skeletal system", + "abnormal skin of body", + "musculoskeletal system", + "Abnormal pleura morphology", + "non-connected functional system", + "increased qualitatively inflammatory response", + "subdivision of tube", + "abnormal inflammatory response", + "Abnormal leukocyte morphology", + "response to stimulus", + "Abnormal skeletal morphology", + "abnormal response to stimulus", + "abnormal skeletal system", + "increased biological_process", + "integument", + "eukaryotic cell", + "increased qualitatively inflammatory response in independent continuant", + "inflammatory response", + "specifically dependent continuant", + "organ system subdivision", + "response to stress", + "ectoderm-derived structure", + "proximo-distal subdivision of respiratory tract", + "increased qualitatively biological_process", + "pleural sac", + "biogenic amine secreting cell", + "Abnormal musculoskeletal physiology", + "Abnormal platelet count", + "abnormal platelet morphology", + "material anatomical entity", + "erythroid lineage cell", + "multicellular anatomical structure", + "anatomical system", + "Abnormality of thrombocytes", + "organ", + "organism", + "abnormal respiratory system morphology", + "Abnormal lung morphology", + "abnormal anatomical entity morphology in the independent continuant", + "organ part", + "Recurrent respiratory infections", + "respiratory system", + "Multiple bilateral pneumothoraces", + "main body axis", + "abnormally decreased number of hematopoietic cell", + "serous membrane", + "abnormal biological_process in independent continuant", + "Unusual infection", + "Metazoa", + "Abnormality of the immune system", + "multi-tissue structure", + "Recurrent infections", + "abnormal blood cell", + "abnormal response to stress", + "subdivision of trunk", + "Abnormal respiratory system morphology", + "Abnormality of the respiratory system", + "abnormal number of anatomical enitites of type hematopoietic cell", + "Recurrent lower respiratory tract infections", + "endoderm-derived structure", + "pair of lungs", + "blood cell", + "respiration organ", + "abnormal immune system", + "thoracic segment of trunk", + "thoracic segment organ", + "anatomical collection", + "trunk region element", + "body proper", + "abnormal respiratory system", + "Abnormality of multiple cell lineages in the bone marrow", + "abnormal number of anatomical enitites of type anatomical entity", + "serous sac", + "abnormality of respiratory system physiology", + "cellular organisms", + "Opisthokonta", + "Respiratory tract infection", + "All", + "abnormal lung morphology", "tube", - "abnormal digestive system morphology", - "decreased length of anatomical entity", - "decreased qualitatively biological_process in independent continuant", - "forelimb zeugopod bone hypoplasia", - "Eumetazoa", - "segment of autopod", - "abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the brain", - "zeugopod", - "spleen", - "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", + "Pneumothorax", + "respiratory tract", + "organism subdivision", + "respiratory airway", + "thoracic cavity element", + "subdivision of organism along main body axis", + "lung", + "abnormal number of anatomical enitites of type myeloid cell", + "mixed endoderm/mesoderm-derived structure", + "lower respiratory tract", + "anatomical wall", + "process", + "pleura", + "abnormality of anatomical entity physiology", + "abnormal pleura morphology", + "mesoderm-derived structure", + "abnormal bone marrow morphology", + ], + }, + { + "id": "MONDO:0001083", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome", + "xref": [ + "DOID:1062", + "GARD:9120", + "MESH:D005198", + "NANDO:2100027", + "NANDO:2200187", + "NCIT:C3034", + "SCTID:40488004", + "UMLS:C0015624", + ], + "provided_by": "phenio_nodes", + "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.", + "synonym": [ + "De toni-Fanconi syndrome", + "De toni-debre-Fanconi syndrome", + "Fanconi syndrome", + "Fanconi's syndrome", + "Fanconi-de toni syndrome", + "Fanconi-de-toni syndrome", + "Lignac-Fanconi syndrome", + "adult Fanconi syndrome", + "congenital Fanconi syndrome", + "deToni Fanconi syndrome", + "infantile nephropathic cystinosis", + "toni-debre-Fanconi syndrome", + ], + "namespace": "MONDO", + "has_phenotype_count": 0, + }, + { + "id": "MONDO:0060779", + "category": "biolink:Disease", + "name": "acquired Fanconi syndrome", + "xref": ["NCIT:C78296", "SCTID:236467001", "UMLS:C0341702"], + "provided_by": "phenio_nodes", + "description": "Fanconi Syndrome caused by exposure to noxious agents.", + "synonym": ["acquired Fanconi syndrome"], + "namespace": "MONDO", + "has_phenotype_count": 0, + }, + { + "id": "MONDO:0007600", + "category": "biolink:Disease", + "name": "primary Fanconi syndrome", + "xref": ["GARD:9118", "NCIT:C123229", "Orphanet:3337"], + "provided_by": "phenio_nodes", + "description": "A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.", + "synonym": ["FRTS1", "Fanconi renotubular syndrome 1", "primary Fanconi renotubular syndrome"], + "namespace": "MONDO", + "has_phenotype": [ + "HP:0002749", + "HP:0000117", + "HP:0001824", + "HP:0001324", + "HP:0004910", + "HP:0001510", + "HP:0003774", + "HP:0002150", + "HP:0001944", + "HP:0002206", + "HP:0001943", + "HP:0012622", + "HP:0012606", + "HP:0004912", + "HP:0003537", + "HP:0003234", + "HP:0003081", + "HP:0002900", + "HP:0002659", + "HP:0002653", + "HP:0002148", + "HP:0032943", + "HP:0004918", + "HP:0003646", + "HP:0003149", + "HP:0003126", + "HP:0003076", + "HP:0002909", + "HP:0002049", + ], + "has_phenotype_label": [ + "Osteomalacia", + "Renal phosphate wasting", + "Weight loss", + "Muscle weakness", + "Bicarbonate-wasting renal tubular acidosis", "Growth delay", - "forelimb skeleton", - "abnormal hormone blood level", - "abnormal head", - "regional part of nervous system", - "digit 1", - "forelimb bone", - "skeletal element", - "Abnormality of the head", - "endochondral bone", - "decreased length of anatomical entity in independent continuant", - "abnormal manus morphology", - "cell", - "phenotype by ontology source", - "forelimb long bone", - "Abnormality of the hypothalamus-pituitary axis", - "quality", - "forelimb zeugopod bone", - "vascular system", - "radius bone", - "arm", - "limb", - "lateral structure", - "immune system", - "decreased qualitatively biological_process", - "manual digit plus metapodial segment", - "Microcephaly", - "abnormal craniocervical region", - "limb skeleton subdivision", - "abnormal intestine morphology", - "Short forearm", - "bone of appendage girdle complex", - "anatomical entity hypoplasia in independent continuant", - "lymphatic part of lymphoid system", - "Neoplasm by anatomical site", - "Abnormality of limb bone", - "Aplasia/hypoplasia involving bones of the extremities", - "alimentary part of gastrointestinal system atresia", - "anatomical entity degeneration in independent continuant", - "axial skeletal system", - "Limb undergrowth", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "long bone", - "abnormal gland morphology", - "body proper", + "Stage 5 chronic kidney disease", + "Hypercalciuria", + "Dehydration", + "Pulmonary fibrosis", + "Hypoglycemia", + "Chronic kidney disease", + "Renal sodium wasting", + "Hypophosphatemic rickets", + "Hypouricemia", + "Decreased plasma carnitine", + "Increased urinary potassium", + "Hypokalemia", + "Increased susceptibility to fractures", + "Bone pain", + "Hypophosphatemia", + "Abnormal urine pH", + "Hyperchloremic metabolic acidosis", + "Bicarbonaturia", + "Hyperuricosuria", + "Low-molecular-weight proteinuria", + "Glycosuria", + "Generalized aminoaciduria", + "Proximal renal tubular acidosis", + ], + "has_phenotype_count": 29, + "has_phenotype_closure": [ + "UPHENO:0068495", + "UPHENO:0046286", + "UPHENO:0051930", + "UPHENO:0068091", + "HP:0031980", + "CHEBI:25806", + "HP:0032180", + "UPHENO:0004459", + "GO:0098771", + "CHEBI:50860", + "UPHENO:0001001", + "UPHENO:0081544", + "HP:0011015", + "UPHENO:0080555", + "UBERON:0000170", + "CHEBI:27226", + "HP:0004323", + "HP:0002206", + "UPHENO:0034438", + "UPHENO:0076299", + "UPHENO:0052008", + "HP:0012252", + "HP:0002088", + "PATO:0000001", + "UBERON:0001005", + "UPHENO:0087433", + "UBERON:0000475", + "HP:0012598", + "UPHENO:0068169", + "UBERON:0013522", + "UBERON:0001004", + "UBERON:0002075", + "CHEBI:22563", + "GO:0065007", + "GO:0033500", + "GO:0043229", + "UPHENO:0020584", + "UPHENO:0050619", + "GO:0065008", + "UPHENO:0086172", + "BFO:0000020", + "CHEBI:35281", + "UPHENO:0051640", + "UPHENO:0081546", + "UBERON:0034925", + "UBERON:0002048", + "GO:0042592", + "CHEBI:22984", + "CHEBI:26020", + "GO:0050878", + "CHEBI:33521", + "CHEBI:36586", + "HP:0011280", + "UPHENO:0051704", + "HP:0000083", + "UPHENO:0082794", + "HP:0011804", + "GO:0042593", + "UPHENO:0049873", + "CHEBI:18133", + "UPHENO:0004536", + "CL:0000000", + "UPHENO:0079536", + "UBERON:0003914", + "CHEBI:64709", + "UPHENO:0034149", + "UPHENO:0019970", + "UBERON:0013702", + "CHEBI:33304", + "HP:0010930", + "UBERON:0002390", + "UPHENO:0051739", + "UPHENO:0066943", + "UBERON:0011143", + "HP:0003076", + "UPHENO:0051847", + "UBERON:0005173", + "UBERON:0000916", + "HP:0000124", + "CHEBI:16646", + "UPHENO:0067999", + "UPHENO:0002832", + "HP:0002748", + "UBERON:0000463", + "CHEBI:16541", + "CHEBI:18282", + "HP:0003126", + "HP:0004325", + "CHEBI:35584", + "UPHENO:0002803", + "UBERON:0005172", + "UPHENO:0078555", + "HP:0012622", + "UBERON:0006555", + "UPHENO:0081547", + "CHEBI:25414", + "UBERON:0004122", + "UPHENO:0086132", + "UBERON:0004819", + "UBERON:0009773", + "UBERON:0007684", + "UBERON:0004211", + "CHEBI:83821", + "UPHENO:0000541", + "CHEBI:22313", + "HP:0000077", + "CHEBI:78616", + "UPHENO:0051763", + "HP:0006530", + "UPHENO:0066927", + "HP:0020129", + "UBERON:0004765", + "UBERON:0000467", + "CHEBI:33273", + "UPHENO:0054261", + "HP:0033127", + "UBERON:0001630", + "UPHENO:0002332", + "UPHENO:0078554", + "HP:0002150", + "HP:0011842", + "UPHENO:0068089", + "UPHENO:0075696", + "HP:0012599", + "HP:0003330", + "HP:0000924", + "UBERON:0002113", + "UPHENO:0052116", + "CHEBI:24835", + "UPHENO:0051668", + "CHEBI:33579", + "HP:0004360", + "HP:0001941", + "UPHENO:0051804", + "UPHENO:0066781", + "HP:0004912", + "CHEBI:35570", + "HP:0001871", + "GO:0032501", + "UBERON:0013701", + "UPHENO:0050433", + "UPHENO:0082539", + "UPHENO:0046344", + "UBERON:0000489", + "UBERON:0000465", + "CHEBI:33582", + "HP:0004348", + "CHEBI:23906", + "HP:0003774", + "HP:0004349", + "BFO:0000040", + "UBERON:0000179", + "CHEBI:33595", + "UPHENO:0081550", + "UPHENO:0068064", + "BFO:0000001", + "UBERON:0015212", + "HP:0012211", + "UBERON:0002204", + "UPHENO:0046348", + "UPHENO:0081440", + "UPHENO:0081548", + "UPHENO:0076703", + "UBERON:0000065", + "HP:0002653", + "CHEBI:33241", + "UPHENO:0084654", + "CHEBI:35568", + "UBERON:0000062", + "CHEBI:26401", + "HP:0003119", + "HP:0002086", + "GO:0001503", + "HP:0001510", + "CHEBI:25696", + "CHEBI:33302", + "UBERON:8450002", + "UPHENO:0084653", + "HP:0003287", + "UPHENO:0020748", + "HP:0004910", + "UPHENO:0051678", + "UBERON:0004111", + "GO:0043227", + "BFO:0000002", + "UPHENO:0000543", + "UPHENO:0051686", + "CHEBI:36915", + "UPHENO:0068036", + "UBERON:0001008", + "CHEBI:24833", + "CHEBI:26079", + "UBERON:0010000", + "CHEBI:33839", + "HP:0010996", + "CHEBI:33635", + "CHEBI:25384", + "CHEBI:36916", + "UPHENO:0079822", + "CHEBI:26469", + "UBERON:0011676", + "UPHENO:0076692", + "UPHENO:0002536", + "UBERON:0000178", + "UPHENO:0078646", + "UPHENO:0024906", + "HP:0000118", + "UPHENO:0051736", + "UBERON:0006314", + "HP:0040156", + "CHEBI:33559", + "UBERON:0001015", + "HP:0012606", + "GO:0006144", + "GO:0006629", + "UPHENO:0001005", + "UBERON:0000383", + "UPHENO:0051635", + 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"UPHENO:0049628", + "CHEBI:33238", + "HP:0003149", + "UBERON:0002193", + "UPHENO:0051766", + "UPHENO:0050116", + "UPHENO:0076286", + "HP:0004354", + "HP:0011013", + "HP:0012603", + "UPHENO:0050342", + "CHEBI:18059", + "UPHENO:0051866", + "UPHENO:0046356", + "UPHENO:0051887", + "GO:0110165", + "UPHENO:0051709", + "CHEBI:35605", + "CHEBI:38166", + "CHEBI:26708", + "BFO:0000004", + "CHEBI:22314", + "HP:0012591", + "UPHENO:0034253", + "CHEBI:35406", + "HP:0002148", + "UPHENO:0050121", + "UPHENO:0050080", + "CHEBI:35573", + "UPHENO:0002411", + "GO:0050801", + "GO:0009987", + "UPHENO:0066739", + "UPHENO:0068296", + "UPHENO:0002816", + "UPHENO:0051937", + "UPHENO:0034351", + "CHEBI:33259", + "CHEBI:24870", + "UBERON:0002417", + "HP:0000093", + "HP:0012531", + "CHEBI:24867", + "CHEBI:25213", + "UPHENO:0034248", + "HP:0010932", + "HP:0100529", + "UPHENO:0034217", + "HP:0002157", + "HP:0033354", + "GO:0006725", + "UPHENO:0068538", + "HP:0004352", + "CHEBI:33608", + "CHEBI:35366", + "CHEBI:25810", + "HP:0000117", + "CHEBI:35875", + "HP:0004364", + "GO:0044237", + "GO:0008150", + "HP:0012072", + "HP:0012337", + "UPHENO:0068251", + "GO:0034641", + "GO:0046483", + "UBERON:0000061", + "GO:1901360", + "GO:1901564", + "GO:0006139", + "CHEBI:37175", + "UPHENO:0051688", + "GO:0005739", + "UPHENO:0051608", + "CHEBI:33832", + "CHEBI:33636", + "CHEBI:5686", + "HP:0004359", + "CHEBI:33655", + "UPHENO:0049748", + "UPHENO:0077826", + "CHEBI:51143", + "UPHENO:0051960", + "UPHENO:0078616", + "UPHENO:0051777", + "UPHENO:0068054", + "UPHENO:0086908", + "HP:0004369", + "CHEBI:16670", + "CHEBI:25699", + "CHEBI:35352", + "UPHENO:0068442", + "CHEBI:33674", + "UPHENO:0068058", + "HP:0003537", + "CHEBI:33692", + "CHEBI:36914", + "CHEBI:35571", + "UBERON:0003103", + "HP:0001943", + "GO:0072521", + "CHEBI:33250", + "CHEBI:25367", + "HP:0011042", + "UPHENO:0049587", + "BFO:0000015", + "CHEBI:33833", + "CHEBI:38101", + "CHEBI:27171", + "GO:0006807", + "CHEBI:33659", + "GO:0043436", + "CHEBI:24532", + "UPHENO:0082761", + "CHEBI:37622", + "CHEBI:33672", + "GO:0043231", + "UPHENO:0051588", + "CHEBI:33671", + "UPHENO:0049709", + "CHEBI:33245", + "UPHENO:0050113", + "CHEBI:60242", + "UPHENO:0006889", + "HP:0001944", + "CHEBI:22860", + "CHEBI:17126", + "GO:0071704", + "CHEBI:35284", + "UPHENO:0049723", + "HP:0010967", + "UPHENO:0050484", + "UPHENO:0084472", + "GO:0044255", + "GO:0006082", + "HP:0010935", + "GO:0005575", + "UPHENO:0002448", + "GO:0006575", + "GO:0032787", + "CHEBI:36587", + "CHEBI:29067", + "UPHENO:0078640", + "HP:0012103", + "UPHENO:0084537", + "GO:0005623", + "UPHENO:0082544", + "UPHENO:0051712", + "HP:0025354", + "HP:0001992", + "HP:0011017", + "UPHENO:0002442", + "UPHENO:0034199", + "GO:0043226", + "GO:0005737", + "GO:0005622", + "CHEBI:29103", + "UPHENO:0068040", + "CHEBI:25741", + "CHEBI:24651", + "UPHENO:0084541", + "UPHENO:0034319", + "HP:0011843", + "GO:0006577", + "CHEBI:36358", + "CHEBI:33575", + "CHEBI:28868", + "UPHENO:0015280", + "UPHENO:0075902", + "UPHENO:0048707", + "CHEBI:27369", + "CHEBI:35757", + "GO:0055062", + "UPHENO:0084542", + "GO:0009437", + "UPHENO:0068350", + "UPHENO:0051898", + "HP:0003081", + "UBERON:0000171", + "CHEBI:26216", + "UBERON:0004119", + "UPHENO:0051849", + "CHEBI:33296", + "UBERON:0001558", + "CHEBI:26217", + "CHEBI:37247", + "UPHENO:0051645", + "HP:0010929", + "UBERON:0000072", + "UPHENO:0051958", + "CHEBI:33504", + "HP:0002659", + "HP:0011279", + "HP:0025142", + "HP:0032943", + "HP:0001995", + "GO:0055080", + "HP:0004918", + "UPHENO:0001003", + "UPHENO:0068079", + "HP:0003646", + "HP:6000531", + "CHEBI:35604", + "HP:0011032", + "HP:0003110", + "UPHENO:0051659", + "UPHENO:0051619", + "UPHENO:0051714", + "HP:0003234", + "HP:0012610", + "UPHENO:0068024", + "UPHENO:0068247", + "CHEBI:32988", + "CHEBI:35552", + "CHEBI:15841", + "CHEBI:50047", + "UPHENO:0051801", + "UBERON:0001285", + "UPHENO:0068565", + "UPHENO:0080658", + "UPHENO:0049618", + "UPHENO:0068144", + "CHEBI:33709", + "UPHENO:0051670", + ], + "has_phenotype_closure_label": [ + "Proximal renal tubular acidosis", + "increased level of carboxylic acid in independent continuant", + "abnormal independent continuant amino acid level", + "abnormal mitochondrion", + "heteroorganic entity", + "abnormal metabolic process", + "excreta", + "organic oxo compound", + "molecular entity", + "abnormal homeostatic process", + "proximo-distal subdivision of respiratory tract", + "abnormal blood glucose level", + "Decreased plasma carnitine", + "abnormal chemical homeostasis", + "abnormal urine organic anion level", + "Abnormal blood glucose concentration", + "organonitrogen compound metabolic process", + "abnormal hematopoietic system", + "abnormal monocarboxylic acid metabolic process", + "thoracic cavity element", "multicellular organism", - "increased size of the brain ventricle", - "Abnormality of brain morphology", - "abnormal anatomical entity length", - "abnormal size of skull", - "Abnormality of the musculoskeletal system", - "manus", - "abnormal size of kidney", - "organ component layer", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal forebrain morphology", - "abnormal bone marrow morphology", - "organism subdivision", - "abnormal genitourinary system", - "abnormal axial skeleton plus cranial skeleton morphology", - "aplasia or hypoplasia of anatomical entity", - "organ system subdivision", - "process", - "brain", - "Megakaryocyte dysplasia", - "abnormal cerebral hemisphere white matter morphology", - "bone element hypoplasia in independent continuant", - "abnormal limb morphology", - "establishment of localization", - "bone of pectoral complex", - "delayed growth", - "organism", - "Gastrointestinal atresia", - "Metazoa", - "absent anatomical entity in the multicellular organism", - "anterior region of body", - "manual digit 1 plus metapodial segment", - "telencephalon", - "decreased qualitatively developmental process", - "limb long bone", - "appendage", - "abnormal hemopoietic organ morphology", - "white matter of forebrain", - "Hypoplasia of the radius", + "respiratory airway", + "lung fibrosis", + "abnormal respiratory system", + "increased bodily fluid acid level", + "Bicarbonaturia", + "biological_process", + "increased bodily fluid role level", + "viscus", + "abnormal respiratory system morphology", + "monocarboxylic acid metabolic process", + "pair of lungs", + "regulation of biological quality", "subdivision of tube", - "Opisthokonta", - "Aplasia/hypoplasia involving bones of the upper limbs", - "multicellular anatomical structure", - "endocrine system", - "skull", - "decreased size of the radius bone", - "occurrent", + "abnormality of multicellular organism mass", + "epithelial tube", + "abnormal anatomical entity morphology in the independent continuant", + "Abnormal lung morphology", + "oxygen molecular entity", + "organooxygen compound", + "Abnormality of fluid regulation", + "abnormal independent continuant phosphate level", + "Abnormality of the skeletal system", + "lung", + "Hypercalciuria", + "haemolymphatic fluid", + "abnormal role urine level", + "s-block element atom", + "metal atom", + "uric acid", + "Stage 5 chronic kidney disease", + "Abnormal urinary electrolyte concentration", + "mesoderm-derived structure", + "non-functional anatomical entity", + "thoracic segment organ", + "delayed biological_process", + "oxoacid", + "abnormal role bodily fluid level", + "aldose", + "increased level of glucose in independent continuant", + "abnormal regulation of body fluid levels", + "excretory tube", + "Abnormal pulmonary interstitial morphology", + "Renal tubular acidosis", + "abdomen element", + "respiratory tract", + "organism subdivision", + "increased level of chemical entity", + "organic substance metabolic process", + "Abnormal cellular physiology", + "inorganic cation", + "abnormal urine calcium atom level", + "thoracic segment of trunk", + "increased level of amino acid in independent continuant", + "abnormally decreased functionality of the anatomical entity", + "inorganic molecular entity", + "protein-containing material entity", "abnormal skeletal system morphology", - "anatomical collection", - "abnormal skull morphology", - "organ", - "organism substance", - "Aplasia/Hypoplasia involving the central nervous system", - "Abnormal pituitary gland morphology", - "axial skeleton plus cranial skeleton", - "limb endochondral element", - "anatomical entity", - "Hypopituitarism", - "Abnormal skeletal morphology", + "Proteinuria", + "lateral structure", + "abnormal lipid metabolic process", + "endoderm-derived structure", + "trunk region element", + "body proper", + "increased level of glucose in urine", + "purine", + "increased level of chemical entity in urine", + "increased level of chemical entity in bodily fluid", + "carboxylic acid metabolic process", + "organic aromatic compound", + "Renal tubular dysfunction", + "Abnormality of the respiratory system", + "Abnormality of the urinary system physiology", + "increased level of potassium atom in independent continuant", + "regulation of body fluid levels", + "abnormal blood chemical entity level", + "abnormal acid bodily fluid level", + "metabolic process", + "Decreased anatomical entity mass density", + "carbon group molecular entity", + "abnormal independent continuant chemical entity level", + "Weight loss", + "phosphorus oxoacid derivative", "compound organ", - "autopod region", - "decreased size of the anatomical entity", + "kidney epithelium", + "Abnormal blood phosphate concentration", + "skeletal system", + "atom", + "genitourinary system", + "renal tubule", + "abnormality of anatomical entity mass", + "abnormality of respiratory system physiology", + "Decreased body weight", + "organ", + "occurrent", + "anatomical collection", + "polyatomic entity", + "abnormality of renal system physiology", + "monosaccharide", + "nucleobase-containing small molecule metabolic process", + "mancude organic heterobicyclic parent", + "respiratory system", + "abnormal sodium atom level", + "abnormal amino-acid betaine level", + "oxopurine", + "Decreased multicellular organism mass", + "abnormal independent continuant organic anion level", + "monoatomic entity", + "uriniferous tubule", + "abnormal upper urinary tract", + "abnormal cellular metabolic process", "musculoskeletal system", - "appendicular skeleton", - "Abnormal axial skeleton morphology", - "decreased biological_process in brain", - "abnormal nervous system", + "carnitine", + "cytoplasm", + "Abnormality of urine homeostasis", + "organ system subdivision", + "Aminoaciduria", + "abnormal genitourinary system", + "Metabolic acidosis", + "blood", + "hydrides", + "increased level of potassium atom in urine", + "abdominal segment element", + "abnormal nitrogen compound metabolic process", + "Glycosuria", + "material entity", "abnormal anatomical entity morphology", - "abnormal head morphology", - "head", - "Abnormal skull morphology", - "anatomical cluster", - "upper urinary tract", - "skeletal system", - "ectoderm-derived structure", - "abnormal craniocervical region morphology", - "abnormal autopod region morphology", - "digestive system element", - "abnormal size of anatomical entity", - "paired limb/fin skeleton", - "postcranial axial skeletal system", - "segmental subdivision of nervous system", - "Abnormality of the lymphatic system", - "absent anatomical entity in the forelimb", - "All", - "abnormal alimentary part of gastrointestinal system", - "abnormal limb bone", - "aplasia or hypoplasia of telencephalon", - "abnormal brain morphology", - "abnormal cell", + "specifically dependent continuant", + "hematopoietic system", + "purines", + "abnormal purine nucleobase metabolic process", + "Abnormal respiratory system physiology", + "potassium molecular entity", + "Abnormal homeostasis", + "Abnormal muscle physiology", + "organochalcogen compound", + "Increased susceptibility to fractures", + "homeostatic process", + "abnormal carbohydrate metabolic process", + "p-block molecular entity", + "phosphorus oxoacids and derivatives", + "abnormal urine chemical entity level", + "monoatomic ion homeostasis", + "Abnormality of the musculoskeletal system", + "abnormal phosphate ion homeostasis", + "Abnormal renal physiology", + "abnormal skeletal system", + "nucleobase", + "increased level of carboxylic acid in urine", + "abnormal musculature", + "organ part", + "Muscle weakness", + "multicellular organismal process", + "abnormal blood phosphate level", + "obsolete cellular aromatic compound metabolic process", + "hemolymphoid system", + "hexose", + "multicellular anatomical structure", + "Pulmonary fibrosis", + "carbohydrate metabolic process", + "abnormal lung morphology", + "alkaline earth metal atom", + "Abnormal skeletal morphology", + "abnormal glucose homeostasis", + "decreased level of phosphate in independent continuant", + "anatomical entity", "bone element", - "abnormal nervous system morphology", - "Abnormality of the digestive system", - "organ part", - "Abnormality of head or neck", - "hematopoietic cell", - "Decreased head circumference", - "abnormal small intestine morphology", - "abnormal hematopoietic system", - "cranial skeletal system", - "Abnormality of digestive system morphology", - "abnormal duodenum morphology", - "abnormal small intestine", - "abnormal transport", - "mesoderm-derived structure", - "abnormal digestive system", - "subdivision of digestive tract", - "digestive tract", - "regional part of brain", - "arm bone", + "excretory system", + "tube", + "decreased level of phosphate in blood", + "abnormal phosphate level", + "decreased level of chemical entity", + "abnormal anatomical entity", + "abnormal growth", + "All", + "Abnormal bone structure", + "organic cyclic compound", + "Hyperchloremic acidosis", + "abnormally decreased functionality of the nephron tubule", + "Abnormal cellular phenotype", + "abnormal bone element mass density", + "abnormality of anatomical entity physiology", + "Phenotypic abnormality", + "Abnormal circulating lipid concentration", + "Osteomalacia", + "Abnormality of the musculature", + "decreased role independent continuant level", + "ossification", + "abnormal independent continuant calcium atom level", + "Abnormal circulating metabolite concentration", + "increased independent continuant role level", + "entity", + "cavitated compound organ", + "skeletal element", + "Decreased bone element mass density", + "abnormal phenotype by ontology source", + "pnictogen molecular entity", + "subdivision of trunk", + "abnormal chemical entity level", + "Abnormality of metabolism/homeostasis", + "tissue", + "continuant", + "Abnormal circulating nucleobase concentration", + "protein polypeptide chain", + "nephron", + "Hypoglycemia", + "decreased level of carnitine in independent continuant", + "Chronic kidney disease", + "material anatomical entity", + "muscle structure", + "carbohydrate", + "renal system", + "lipid", + "Bicarbonate-wasting renal tubular acidosis", + "organism substance", + "cellular anatomical entity", + "aldohexose", + "subdivision of organism along main body axis", + "phosphoric acid derivative", + "abnormal renal system", + "abnormal independent continuant monoatomic ion level", + "abnormal small molecule metabolic process", + "phosphate", + "abnormal multicellular organism chemical entity level", + "alkali metal cation", + "abnormal role independent continuant level", + "metal cation", + "abnormal independent continuant glucose level", + "process", + "trunk", + "Abnormality of the urinary system", + "Aciduria", + "epithelium", + "abnormality of kidney physiology", + "main group molecular entity", + "heteroatomic molecular entity", + "increased level of calcium atom in independent continuant", + "increased independent continuant acid level", + "Dehydration", + "polyatomic ion", + "Renal insufficiency", + "nephron epithelium", + "Abnormality of body weight", + "growth", + "heteropolycyclic compound", + "anatomical entity dysfunction in independent continuant", + "muscle organ", + "dipolar compound", + "Increased urinary potassium", + "ammonium betaine", + "increased level of uric acid in independent continuant", + "increased independent continuant base level", + "Abnormality of the upper urinary tract", + "Bone pain", + "decreased anatomical entity strength", + "abnormal calcium atom level", + "musculature of body", "biological regulation", - "Myelodysplasia", - "Chiari malformation", + "abdominal segment of trunk", + "anatomical conduit", + "phosphorus molecular entity", "anatomical structure", + "organic ion", + "Abnormal circulating carbohydrate concentration", + "musculature", + "calcium atom", + "decreased role blood level", + "decreased muscle organ strength", + "bicyclic compound", + "cellular_component", + "abnormal monoatomic ion homeostasis", + "nephron tubule", + "hydrogen molecular entity", + "carbohydrate homeostasis", + "increased level of chemical entity in independent continuant", "Abnormality of blood and blood-forming tissues", - "abnormal pituitary gland morphology", - "multicellular organism development", - "abnormal forebrain morphology", - "hematopoietic system", - "Upper limb undergrowth", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "anatomical conduit", - "decreased embryo development", - "Abnormal duodenum morphology", - "abnormal bone of pectoral complex morphology", - "Abnormal renal morphology", - "Abnormality of limbs", - "abnormal alimentary part of gastrointestinal system morphology", - "root", - "abnormally formed anatomical entity", - "abnormal central nervous system morphology", - "abnormal independent continuant chemical entity level", - "anatomical system", - "Abnormality of the abdominal organs", - "abnormal role independent continuant level", - "specifically dependent continuant", - "abnormal closing of the anatomical entity", - "material entity", - "Abnormal forearm morphology", - "material anatomical entity", - "craniocervical region", - "abnormal bone marrow cell", - "Neoplasm", - "Abnormality of the gastrointestinal tract", - "aplasia or hypoplasia of skeleton", - "independent continuant", - "abnormally increased number of anatomical entity", - "limb segment", - "appendage girdle complex", - "duodenum atresia", - "structure with developmental contribution from neural crest", - "Abnormal long bone morphology", - "small intestine", - "abnormal anatomical entity", - "paired limb/fin", - "Morphological central nervous system abnormality", - "alimentary part of gastrointestinal system", - "Intestinal atresia", - "abnormal developmental process", - "Duodenal atresia", - "genitourinary system", - "Abnormal small intestine morphology", - "abnormal manus", - "upper limb segment", - "duodenum", - "abnormal manual digit morphology in the independent continuant", - "anatomical entity atresia", - "digestive system", - "organ subunit", - "Abnormal cerebral morphology", - "intestine", - "abnormal role bodily fluid level", - "Abnormal intestine morphology", - "abnormal renal system morphology", + "upper urinary tract", + "Abnormal respiratory system morphology", + "Acidosis", + "Abnormal glucose homeostasis", + "abnormal urine phosphate level", + "bodily fluid", + "decreased anatomical entity mass", + "abdomen", + "Abnormal circulating organic compound concentration", + "increased level of calcium atom in urine", + "abnormal carbohydrate homeostasis", + "Abnormal urine metabolite level", + "primary metabolic process", + "glucose homeostasis", + "carbohydrates and carbohydrate derivatives", + "organic acid", + "abnormal metabolite independent continuant level", + "abnormal primary metabolic process", + "abnormal independent continuant sodium atom level", + "Renal sodium wasting", + "delayed growth", + "decreased level of carnitine in blood", + "oxoacid derivative", + "Abnormal urine sodium concentration", + "lower respiratory tract", + "abnormal independent continuant nitrogen molecular entity level", + "sodium atom", + "alkali metal atom", + "Abnormal musculoskeletal physiology", + "Abnormal urine potassium concentration", + "Hypophosphatemic rickets", + "Decreased anatomical entity mass", + "inorganic ion homeostasis", + "abnormal blood monoatomic ion level", + "Azotemia", + "intracellular anatomical structure", + "decreased level of uric acid in independent continuant", + "decreased level of chemical entity in blood", + "elemental molecular entity", + "ion", + "fatty acid", + "Abnormality of urine calcium concentration", + "organic cyclic compound metabolic process", + "Hypophosphatemia", + "Renal phosphate wasting", + "Abnormal circulating monocarboxylic acid concentration", + "decreased level of chemical entity in independent continuant", + "Abnormality of mitochondrial metabolism", + "phosphate ion homeostasis", + "Abnormal blood ion concentration", + "increased level of chemical entity in blood", + "Abnormal urine phosphate concentration", + "organic hydride", + "Abnormality of urinary uric acid level", + "aromatic compound", + "nitrogen molecular entity", + "polycyclic compound", + "s-block molecular entity", + "abnormal nucleobase metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "obsolete heterocycle metabolic process", + "small molecule metabolic process", + "nucleobase-containing compound metabolic process", + "Abnormal circulating purine concentration", + "Abnormal urine protein level", + "abnormal cellular process", + "Abnormal circulating carnitine concentration", + "mancude ring", + "elemental potassium", + "cellular process", + "amino-acid betaine", + "increased level of organic acid in urine", + "Hypouricemia", + "Decreased circulating purine concentration", + "anatomical system", + "mitochondrion", + "abnormal independent continuant carnitine level", + "Hypokalemia", + "Abnormality of the genitourinary system", + "organic heterocyclic compound", + "heterobicyclic compound", + "increased level of purines in independent continuant", + "organonitrogen compound", + "abnormal independent continuant potassium(1+) level", + "respiration organ", + "abnormality of muscle organ physiology", + "organic molecule", + "cyclic compound", + "mancude organic heterocyclic parent", + "abnormal independent continuant uric acid level", + "abnormal blood carnitine level", + "cellular metabolic process", + "obsolete nitrogen compound metabolic process", + "phenotype", + "decreased level of potassium atom in independent continuant", + "nucleobase metabolic process", + "main group element atom", + "molecule", + "abnormal biological_process", + "kidney", + "Growth delay", + "organic mancude parent", + "heteroarene", + "organic molecular entity", + "abnormal anatomical entity mass density", + "increased level of organic molecular entity in independent continuant", + "organic heteropolycyclic compound", + "organonitrogen heterocyclic compound", + "non-functional kidney", + "heterocyclic organic fundamental parent", + "chemical entity", + "Abnormal circulating carboxylic acid concentration", + "Reduced bone mineral density", + "abnormal blood nitrogen molecular entity level", + "Abnormality of the kidney", + "abnormal independent continuant carbohydrate level", + "decreased level of purines", + "cation", + "purine nucleobase metabolic process", + "amino acid", + "decreased level of uric acid in blood", + "decreased multicellular organism mass", + "abnormal blood uric acid level", + "phenotype by ontology source", + "oxoanion", + "carboxylic acid anion", + "monocarboxylic acid", + "cellular lipid metabolic process", + "cellular modified amino acid metabolic process", + "organic fundamental parent", + "organic acid metabolic process", + "lipid metabolic process", + "abnormal cell", + "heterocyclic compound", + "Abnormal circulating fatty-acid anion concentration", + "abnormal fatty acid metabolic process", + "abnormal cellular_component", + "abnormal role blood level", + "organelle", + "abnormal carboxylic acid metabolic process", + "zwitterion", + "carbonyl compound", + "monocarboxylic acid anion", + "purine-containing compound metabolic process", + "carbon oxoacid", + "obsolete cell", + "Abnormal blood potassium concentration", + "Abnormal circulating nitrogen compound concentration", + "intracellular membrane-bounded organelle", + "oxide", + "polyatomic anion", + "glucose", + "fatty acid anion", + "organic anion", + "hydroxides", + "fatty acid metabolic process", + "organic heterobicyclic compound", + "Abnormality of bone mineral density", + "hydrogencarbonate", + "oxoacid metabolic process", + "abnormal urine sodium atom level", + "carboxamide", + "Generalized aminoaciduria", + "amino-acid betaine metabolic process", + "intracellular organelle", + "membrane-bounded organelle", + "anion", + "quality", + "abnormal amino acid derivative level", + "carboxylic acid", + "onium betaine", + "Abnormal urine carboxylic acid level", + "Abnormal circulating fatty-acid concentration", + "Abnormality of acid-base homeostasis", + "urine", + "quaternary nitrogen compound", + "increased level of monosaccharide in independent continuant", + "Hyperchloremic metabolic acidosis", + "amino acid derivative", + "abnormal carnitine metabolic process", + "decreased level of amino-acid betaine", + "Abnormality of the mitochondrion", + "primary amide", + "carnitine metabolic process", + "cell", + "Abnormal bone ossification", + "abnormal urine potassium atom level", + "chalcogen molecular entity", + "abnormal potassium atom level", + "abnormal independent continuant potassium atom level", + "chemical homeostasis", + "main body axis", + "potassium atom", + "monovalent inorganic cation", + "monoatomic monocation", + "abnormal urine hydrogencarbonate level", + "alkali metal molecular entity", + "abnormal kidney", + "Abnormal blood cation concentration", + "abnormal blood potassium atom level", + "increased level of nitrogen molecular entity in blood", + "abnormal monoatomic cation homeostasis", + "abnormal blood potassium(1+) level", + "polypeptide", + "decreased level of potassium atom in blood", + "potassium(1+)", + "monoatomic cation", + "Abnormal blood monovalent inorganic cation concentration", + "monoatomic cation homeostasis", + "inorganic ion", "Growth abnormality", - "skeleton of limb", - "nervous system", - "hemolymphoid system", - "decreased length of long bone", - "Cerebellar malformation", - "postcranial axial skeleton", - "gland", - "abnormal postcranial axial skeleton morphology", - "abnormal telencephalon morphology", - "reproductive gland", - "abnormal phenotype by ontology source", + "abnormality of musculoskeletal system physiology", + "abnormal independent continuant carboxylic acid level", + "carbon oxoanion", + "Constitutional symptom", + "anatomical entity fibrosis", + "Pain", + "independent continuant", + "Abnormal urine pH", + "abnormal independent continuant hydrogencarbonate level", + "Abnormality of urine bicarbonate level", + "imidazopyrimidine", + "increased level of hydrogencarbonate in independent continuant", + "increased level of hydrogencarbonate in urine", + "abnormal hydrogencarbonate level", + "Abnormal urinary organic compound level", + "Rickets", + "increased level of nitrogen molecular entity in independent continuant", + "abnormal urine uric acid level", + "Hyperuricosuria", + "increased level of amino acid in urine", + "increased level of uric acid in urine", + "peptide", + "increased level of protein polypeptide chain in independent continuant", + "amide", + "Low-molecular-weight proteinuria", + "abnormal independent continuant protein polypeptide chain level", + "increased level of protein polypeptide chain in urine", + "macromolecule", + "abnormal acid independent continuant level", + "organic amino compound", + "abnormal urine glucose level", + "increased level of monosaccharide in urine", + "increased level of organic acid in independent continuant", + "Elevated urinary carboxylic acid", + "monoatomic ion", + "abnormal urine amino acid level", + "Organic aciduria", + "abnormal amino acid level", ], }, { - "id": "MONDO:0010953", + "id": "MONDO:0013247", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group E", - "xref": ["DOID:0111084", "GARD:15324", "NCIT:C125709", "OMIM:600901", "UMLS:C3160739"], + "name": "Fanconi renotubular syndrome 2", + "xref": ["DOID:0080758", "GARD:15655", "OMIM:613388", "UMLS:C3150652"], "provided_by": "phenio_nodes", - "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.", + "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.", "synonym": [ - "FANCE", - "FANCE Fanconi anaemia", - "FANCE Fanconi anemia", - "Fanconi Anemia, complementation group type E", - "Fanconi anaemia caused by mutation in FANCE", - "Fanconi anaemia complementation group type E", - "Fanconi anemia caused by mutation in FANCE", - "Fanconi anemia complementation group E", - "Fanconi anemia complementation group type E", - "Fanconi anemia, complementation group E", - "face", - ], - "namespace": "MONDO", - "has_phenotype": [ - "HP:0001875", - "HP:0001249", - "HP:0000086", - "HP:0000252", - "HP:0000953", - "HP:0000081", - "HP:0003214", - "HP:0000815", - "HP:0009777", - "HP:0000104", - "HP:0001017", - "HP:0001876", - "HP:0000028", - "HP:0003974", - "HP:0001873", - "HP:0009778", - "HP:0001896", - "HP:0000568", - "HP:0001518", - "HP:0001263", - "HP:0003221", - "HP:0009943", - "HP:0000978", - "HP:0001627", - "HP:0000957", - "HP:0001903", - "HP:0001909", - "HP:0004322", - "HP:0000486", - "HP:0000365", - "HP:0003213", - "HP:0000085", - ], - "has_phenotype_label": [ - "Neutropenia", - "Intellectual disability", - "Ectopic kidney", - "Microcephaly", - "Hyperpigmentation of the skin", - "Duplicated collecting system", - "Prolonged G2 phase of cell cycle", - "Hypergonadotropic hypogonadism", - "Absent thumb", - "Renal agenesis", - "Anemic pallor", - "Pancytopenia", - "Cryptorchidism", - "Absent radius", - "Thrombocytopenia", - "Short thumb", - "Reticulocytopenia", - "Microphthalmia", - "Small for gestational age", - "Global developmental delay", - "Chromosomal breakage induced by crosslinking agents", - "Complete duplication of thumb phalanx", - "Bruising susceptibility", - "Abnormal heart morphology", - "Cafe-au-lait spot", - "Anemia", - "Leukemia", - "Short stature", - "Strabismus", - "Hearing impairment", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Horseshoe kidney", + "FRTS2", + "Fanconi renotubular syndrome 2", + "Fanconi renotubular syndrome type 2", + "Fanconi syndrome caused by mutation in SLC34A1", + "SLC34A1 Fanconi syndrome", ], - "has_phenotype_count": 32, - "has_phenotype_closure": [ - "UPHENO:0041075", - "UPHENO:0041465", - "UPHENO:0082129", - "UPHENO:0041629", - "HP:0003254", - "GO:0051716", - "UPHENO:0049671", - "GO:0006974", - "HP:0000364", - "UPHENO:0052970", - "UBERON:0002105", - "UPHENO:0005518", - "UPHENO:0002240", - "UBERON:0000015", - "UPHENO:0080300", - "UPHENO:0079826", - "UPHENO:0049586", - "HP:0000496", - "BFO:0000141", - "NBO:0000001", - "NBO:0000338", - "UPHENO:0079828", - "UPHENO:0080351", - "UPHENO:0075159", - "UPHENO:0080352", - "HP:0002664", - "HP:0011793", - "HP:0004377", - "HP:0001510", - "HP:0011355", - "HP:0007400", - "HP:0012733", - "HP:0000957", - "UBERON:0005178", - "UBERON:0015410", - "UPHENO:0076776", - 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"HP:0002150", + ], + "has_phenotype_label": [ + "Osteomalacia", + "Renal phosphate wasting", + "Hypophosphatemia", + "Proximal tubulopathy", + "Recurrent fractures", + "Rickets", + "Osteopenia", + "Generalized aminoaciduria", + "High serum calcitriol", + "Proteinuria", + "Glycosuria", + "Elevated circulating parathyroid hormone level", + "Short stature", + "Bone pain", + "Decreased glomerular filtration rate", + "Renal insufficiency", + "Hypercalciuria", + ], + "has_phenotype_count": 17, + "has_phenotype_closure": [ + "HP:0002150", + "UPHENO:0051678", + "UPHENO:0068134", + "UPHENO:0046344", + "HP:0011280", + "HP:0025142", + "GO:0040007", + "HP:0004322", + "UPHENO:0081424", + "UPHENO:0086132", + "UPHENO:0075195", + "UPHENO:0049874", + "UPHENO:0020584", + "UPHENO:0069254", + "UPHENO:0000541", + "UPHENO:0075159", + "HP:0001510", + "UPHENO:0068174", + "UPHENO:0082943", + "HP:0002152", + "PR:000000001", + "CHEBI:33694", + "PR:000064867", + "UPHENO:0051648", + "HP:0004360", + 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"CHEBI:36962", + "CHEBI:33285", + "CHEBI:25367", + "UBERON:0003914", + "UPHENO:0079536", + "CHEBI:64709", + "HP:0000002", + "HP:0002157", + "HP:0033354", + "UPHENO:0051612", + "UPHENO:0068089", + "UPHENO:0068058", + "UPHENO:0068313", + "CHEBI:33674", + "UPHENO:0076289", + "CHEBI:33575", + "CHEBI:50047", + "CHEBI:33521", + "UPHENO:0082541", + "CHEBI:36586", + "UPHENO:0068102", + "UPHENO:0000543", + "HP:0003076", + "CHEBI:27300", + "UPHENO:0048711", + "UPHENO:0049873", + "UPHENO:0001001", + "GO:0044238", + "UPHENO:0068251", + "GO:0006629", + "GO:1901615", + "UBERON:0000178", + "GO:0006766", + "UPHENO:0051680", + "UBERON:0015204", + "CHEBI:33822", + "UPHENO:0081547", + ], + "has_phenotype_closure_label": [ + "Hypercalciuria", + "alkaline earth metal atom", + "atom", + "s-block element atom", + "main group element atom", + "Abnormality of urine calcium concentration", + "increased level of calcium atom in independent continuant", + "abnormal calcium atom level", + "Renal insufficiency", + "non-functional kidney", + "Decreased glomerular filtration rate", + "Abnormal glomerular filtration rate", + "Pain", + "Constitutional symptom", + "growth", + "Growth delay", + "Abnormality of body height", + "abnormal urine calcium atom level", + "decreased size of the anatomical entity in the independent continuant", + "metal atom", + "abnormality of anatomical entity height", + "Growth abnormality", + "delayed growth", + "abnormal anatomical entity morphology in the independent continuant", + "decreased height of the multicellular organism", + "abnormal blood parathyroid hormone level", + "Hyperproteinemia", + "Abnormal circulating organic amino compound concentration", + "protein", + "increased level of parathyroid hormone in independent continuant", + "parathyroid hormone", + "blood plasma", + "increased level of calcium atom in urine", + "abnormal blood protein polypeptide chain level", + "Elevated circulating parathyroid hormone level", + "Abnormal circulating nitrogen compound concentration", + "increased level of protein in blood", + "Alkalosis", + "increased level of nitrogen molecular entity in blood", + "Abnormality of acid-base homeostasis", + "calcium atom", + "increased blood serum role level", + "increased level of chemical entity in blood serum", + "abnormal independent continuant protein level", + "abnormal role blood serum level", + "abnormal blood serum chemical entity level", + "abnormal acid bodily fluid level", + "increased level of protein", + "blood serum", + "Acute phase response", + "increased level of glucose in independent continuant", + "increased level of monosaccharide in urine", + "Abnormal urinary organic compound level", + "abnormal independent continuant glucose level", + "aldohexose", + "glucose", + "aldose", + "hexose", + "abnormal urine glucose level", + "abnormal independent continuant carbohydrate level", + "monosaccharide", + "macromolecule", + "increased level of protein polypeptide chain in urine", + "abnormal independent continuant protein polypeptide chain level", + "amide", + "increased level of protein polypeptide chain in independent continuant", + "peptide", + "Abnormal metabolism", + "decreased height of the anatomical entity", + "abnormal metabolite independent continuant level", + "hydroxy seco-steroid", + "vitamin D metabolic process", + "steroid metabolic process", + "small molecule metabolic process", + "abnormal hormone independent continuant level", + "abnormal independent continuant calcium atom level", + "abnormal independent continuant parathyroid hormone level", + "abnormal vitamin metabolic process", + "steroid", + "cyclic compound", + "Abnormal circulating hormone concentration", + "abnormal role blood level", + "main body axis", + "organism substance", + "primary amide", + "elemental molecular entity", + "Hypophosphatemia", + "monoatomic ion", + "increased blood role level", + "Abnormality of vitamin D metabolism", + "abnormal homeostatic process", + "decreased level of chemical entity in blood", + "phenotype by ontology source", + "abnormal blood chemical entity level", + "monoatomic entity", + "abnormal acid independent continuant level", + "abnormal urine phosphate level", + "abdomen element", + "protein-containing molecular entity", + "Abnormal circulating organic compound concentration", + "increased level of vitamin D", + "abnormal blood plasma chemical entity level", + "inorganic ion homeostasis", + "Reduced bone mineral density", + "abnormal monoatomic ion homeostasis", + "Abnormality of metabolism/homeostasis", + "non-functional anatomical entity", + "Osteopenia", + "increased level of monosaccharide in independent continuant", + "D3 vitamins", + "chemical entity", + "polyol", + "increased independent continuant acid level", + "heteroatomic molecular entity", + "main group molecular entity", + "abnormality of kidney physiology", + "abnormal chemical homeostasis", + "abnormal independent continuant lipid level", + "phosphorus molecular entity", + "oxoacid derivative", + "trunk", + "abnormality of musculoskeletal system physiology", + "abnormal bone element mass density", + "abnormal multicellular organism chemical entity level", + "phosphate", + "non-connected functional system", + "calcitriol", + "subdivision of organism along main body axis", + "decreased size of the anatomical entity", + "blood", + "phosphate ion homeostasis", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "increased level of chemical entity in blood", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "lipid", + "material anatomical entity", + "nephron", + "protein polypeptide chain", + "continuant", + "amino acid chain", + "tissue", + "subdivision of trunk", + "abnormal phenotype by ontology source", + "increased level of lipid in independent continuant", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "chemical homeostasis", + "skeletal element", + "cavitated compound organ", + "increased level of lipid in blood", + "increased level of parathyroid hormone in blood serum", + "Abnormal circulating protein concentration", + "entity", + "abnormal blood lipid level", + "information biomacromolecule", + "Glycosuria", + "Abnormal bone ossification", + "abdominal segment element", + "abnormal anatomical entity mass density", + "epithelium", + "abnormality of anatomical entity physiology", + "abnormally decreased functionality of the nephron tubule", + "anatomical system", + "All", + "decreased level of chemical entity in independent continuant", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "abnormal growth", + "independent continuant", + "abnormal anatomical entity", + "abnormal independent continuant nitrogen molecular entity level", + "abnormal independent continuant monoatomic ion level", + "excretory system", + "abnormal size of multicellular organism", + "bone element", + "anatomical entity", + "multicellular anatomical structure", + "increased blood serum base level", + "abnormal blood phosphate level", + "multicellular organismal process", + "organ part", + "Abnormal musculoskeletal physiology", + "anatomical entity dysfunction in independent continuant", + "haemolymphatic fluid", + "abnormal skeletal system", + "abnormal blood nitrogen molecular entity level", + "increased level of lipid", + "organic hydroxy compound metabolic process", + "Alkalemia", + "Proteinuria", + "protein-containing material entity", + "abnormal skeletal system morphology", + "abnormal protein level", + "abnormal phosphate ion homeostasis", + "Abnormality of the musculoskeletal system", + "monoatomic ion homeostasis", + "abnormal urine chemical entity level", + "organic cyclic compound metabolic process", + "ion", + "biomacromolecule", + "p-block molecular entity", + "triol", + "increased level of amino acid in independent continuant", + "homeostatic process", + "Abnormal homeostasis", + "Increased susceptibility to fractures", + "organochalcogen compound", + "urine", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "material entity", + "organic amino compound", + "polypeptide", + "Abnormality of bone mineral density", + "anatomical structure", + "anatomical conduit", + "Azotemia", + "abnormal blood monoatomic ion level", + "Abnormal urine metabolite level", + "process", + "fat-soluble vitamin metabolic process", + "nephron tubule", + "hydrogen molecular entity", + "abnormal role independent continuant level", + "abnormal genitourinary system", + "Aminoaciduria", + "organ system subdivision", + "increased level of calcitriol in independent continuant", + "musculoskeletal system", + "abnormal upper urinary tract", + "uriniferous tubule", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "Organic aciduria", + "increased level of protein in independent continuant", + "renal system", + "phenotype", + "Abnormal bone structure", + "organic cyclic compound", + "Abnormality of the genitourinary system", + "abnormal independent continuant amino acid level", + "phosphoric acid derivative", + "abnormality of renal system physiology", + "quality", + "carbon oxoacid", + "multicellular organism", + "hematopoietic system", + "abnormal role bodily fluid level", + "abnormal biological_process", + "Recurrent fractures", + "carbonyl compound", + "polyatomic entity", + "abnormal chemical entity level", + "Abnormality of the skeletal system", + "abnormal independent continuant phosphate level", + "Elevated urinary carboxylic acid", + "pnictogen molecular entity", + "occurrent", + "organ", + "delayed biological_process", + "Osteomalacia", + "oxoacid", + "carbohydrate", + "increased bodily fluid role level", + "biological_process", + "renal tubule", + "Hyperlipidemia", + "abnormal vitamin D level", + "genitourinary system", + "skeletal system", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "abnormal independent continuant chemical entity level", + "carbon group molecular entity", + "Abnormal circulating calcium-phosphate regulating hormone concentration", + "bodily fluid", + "seco-steroid", + "metabolic process", + "Bone pain", + "Abnormality of the upper urinary tract", + "Abnormal blood phosphate concentration", + "phosphorus oxoacids and derivatives", + "kidney epithelium", + "compound organ", + "epithelial tube", + "abdomen", + "abdominal segment of trunk", + "Renal tubular dysfunction", + "abnormal kidney", + "increased bodily fluid base level", + "increased level of glucose in urine", + "body proper", + "trunk region element", + "nephron epithelium", + "lateral structure", + "Proximal tubulopathy", + "organism subdivision", + "tube", + "excretory tube", + "Abnormality of urine homeostasis", + "upper urinary tract", + "abnormal hematopoietic system", + "abnormal independent continuant carboxylic acid level", + "Renal phosphate wasting", + "abnormal endocrine system", + "kidney", + "hemolymphoid system", + "Rickets", + "increased level of organic acid in independent continuant", + "Abnormal urine phosphate concentration", + "increased level of carboxylic acid in urine", + "increased level of chemical entity in blood plasma", + "s-block molecular entity", + "amino acid", + "molecule", + "increased level of nitrogen molecular entity in independent continuant", + "increased level of organic acid in urine", + "carboxamide", + "Generalized aminoaciduria", + "Short stature", + "abnormally decreased functionality of the anatomical entity", + "endocrine system", + "increased level of chemical entity in independent continuant", + "Abnormal urine pH", + "carboxylic acid", + "organic polycyclic compound", + "Abnormal renal physiology", + "chalcogen molecular entity", + "abnormal urine amino acid level", + "nitrogen molecular entity", + "abnormal vitamin D metabolic process", + "Abnormality of the urinary system physiology", + "hydroxycalciol", + "increased independent continuant hormone level", + "increased independent continuant base level", + "Abnormality of the urinary system", + "Aciduria", + "organic molecule", + "abnormal size of anatomical entity", + "abnormal amino acid level", + "increased level of organic molecular entity in independent continuant", + "abnormality of multicellular organism height", + "decreased level of chemical entity", + "abnormal phosphate level", + "Abnormal urine carboxylic acid level", + "primary metabolic process", + "glandular system", + "organic molecular entity", + "increased level of chemical entity in urine", + "increased level of amino acid in urine", + "increased level of chemical entity in bodily fluid", + "abnormal role urine level", + "organic substance metabolic process", + "High serum calcitriol", + "increased level of chemical entity", + "organonitrogen compound", + "organooxygen compound", + "heteroorganic entity", + "Abnormal circulating metabolite concentration", + "ossification", + "organic acid", + "hydroxides", + "oxygen molecular entity", + "increased independent continuant role level", + "increased level of carboxylic acid in independent continuant", + "Abnormal urine protein level", + "abnormal hormone blood level", + "polycyclic compound", + "carbohydrates and carbohydrate derivatives", + "organic hydroxy compound", + "abnormal small molecule metabolic process", + "abnormal renal system", + "vitamin D", + "lipid metabolic process", + "vitamin metabolic process", + "disconnected anatomical group", + "Abnormality of the kidney", + "abnormal lipid metabolic process", + "Abnormality of the endocrine system", + "Abnormality of vitamin metabolism", + "abnormal primary metabolic process", + "increased level of calcitriol in blood", + "Phenotypic abnormality", + "Abnormal circulating lipid concentration", + "excreta", + "organic oxo compound", + "abnormal metabolic process", + "abnormal lipid level", + "increased level of parathyroid hormone in blood", + "hydroxy steroid", + ], + }, + { + "id": "MONDO:0014275", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 3", + "xref": ["DOID:0080759", "GARD:15991", "OMIM:615605", "UMLS:C3810100"], + "provided_by": "phenio_nodes", + "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.", + "synonym": [ + "EHHADH Fanconi syndrome", + "FRTS3", + "Fanconi renotubular syndrome 3", + "Fanconi renotubular syndrome type 3", + "Fanconi syndrome caused by mutation in EHHADH", + ], + "namespace": "MONDO", + "has_phenotype": [ + "HP:0001942", + "HP:0001510", + "HP:0003259", + "HP:0003109", + "HP:0002748", + "HP:0002979", + "HP:0003076", + "HP:0000083", + "HP:0004322", + "HP:0003355", + "HP:0003126", + ], + "has_phenotype_label": [ + "Metabolic acidosis", + "Growth delay", + "Elevated circulating creatinine concentration", + "Hyperphosphaturia", + "Rickets", + "Bowing of the legs", + "Glycosuria", + "Renal insufficiency", + "Short stature", + "Aminoaciduria", + "Low-molecular-weight proteinuria", + ], + "has_phenotype_count": 11, + "has_phenotype_closure": [ + "UPHENO:0068565", + "UPHENO:0051801", + "CHEBI:15841", + "HP:0000093", + "CHEBI:16541", + "UPHENO:0068247", + "CHEBI:16670", + "UPHENO:0068169", + "CHEBI:36586", + "UPHENO:0068495", + "CHEBI:50047", + "CHEBI:33575", + "CHEBI:24651", + "UPHENO:0046286", + "UPHENO:0051930", + "HP:0003355", + "CHEBI:36587", + "UPHENO:0068091", + "HP:0031980", + "UPHENO:0051670", + "HP:0012072", + "HP:0032943", + "CHEBI:33709", + "UPHENO:0081424", "UPHENO:0069254", - "UBERON:0004710", - "UBERON:0008785", - "HP:0001892", - "UBERON:0001440", - "UPHENO:0002905", - "UPHENO:0080325", - "UBERON:0004381", - "UBERON:0012140", - "UPHENO:0086635", - "UPHENO:0026183", + "UPHENO:0075159", + "UPHENO:0068971", + "UBERON:0002113", + "UBERON:0011143", + "UBERON:0005173", + "UBERON:0000916", + "UPHENO:0075195", + "UPHENO:0086132", + "UBERON:0000489", + "HP:0012211", + "UBERON:0009569", + "UBERON:0013701", "UBERON:0011676", - "UPHENO:0084766", - "UBERON:0002097", - "HP:0007364", + "UPHENO:0075902", + "CHEBI:33674", + "UPHENO:0068058", + "HP:0000077", + "CHEBI:78616", + "UPHENO:0052116", + "CHEBI:17234", + "CHEBI:35381", + "CHEBI:18133", + "UPHENO:0081544", + "CHEBI:15693", + "UPHENO:0041258", + "HP:6000531", + "UPHENO:0068352", + "UPHENO:0079534", + "CHEBI:50860", + "CHEBI:23443", + "CHEBI:24532", + "CHEBI:37622", + "UPHENO:0001001", + "CHEBI:16646", + "CHEBI:38304", + "UPHENO:0068064", + "CHEBI:72695", + "GO:0008150", + "UBERON:0002193", + "CHEBI:33675", + "UPHENO:0002332", + "UPHENO:0078554", + "UPHENO:0076740", + "UPHENO:0082467", + "HP:0012100", + "CHEBI:32988", + "UPHENO:0002411", + "HP:0002981", + "CHEBI:35352", + "UPHENO:0077826", + "CHEBI:38101", + "UPHENO:0081550", + "UPHENO:0041573", + "UPHENO:0076703", + "CHEBI:33661", + "UPHENO:0001002", + "GO:0008152", + "CHEBI:36962", "UPHENO:0002830", - "UPHENO:0002880", - "UBERON:0002091", - "UBERON:0004176", - "UBERON:0002428", - "UBERON:0007272", - "UPHENO:0005651", - "UPHENO:0053588", - "UBERON:0002102", - "UPHENO:0050021", - "UPHENO:0002964", - "UBERON:0002544", + "UPHENO:0080351", + "UPHENO:0076286", + "UPHENO:0068049", + "CHEBI:51143", + "UPHENO:0051640", + "UPHENO:0081546", + "HP:0004360", + "HP:0430071", + "BFO:0000020", + "UPHENO:0068491", + "UPHENO:0012541", + "CHEBI:36360", + "UPHENO:0051763", + "UPHENO:0041098", + "UPHENO:0078550", + "HP:0004364", + "BFO:0000004", + "UPHENO:0051753", + "UPHENO:0068346", + "UPHENO:0051894", "UPHENO:0086956", - "UPHENO:0085144", - "HP:0002977", - "UBERON:5002389", - "UPHENO:0018390", - "UBERON:0010708", + "CHEBI:36963", + "UPHENO:0068442", + "CHEBI:24995", + "CHEBI:38261", + "UPHENO:0082542", + "HP:0000119", + "UPHENO:0051635", + "UBERON:0001977", + "UBERON:0000178", + "HP:0000118", + "UPHENO:0068089", + "UPHENO:0001005", + "CHEBI:33832", + "UBERON:0000468", "HP:0000002", - "HP:0011842", - "HP:0001017", - "UPHENO:0088321", - "UPHENO:0076724", - "HP:0001155", - "UPHENO:0049940", - "NCBITaxon:1", - "UPHENO:0008523", - "UPHENO:0087006", - "UPHENO:0087510", - "UPHENO:0086633", - "UBERON:0002371", - "HP:0000077", - "UPHENO:0080114", - "UBERON:0001474", - "CL:0000255", - "HP:0000818", - "UBERON:0000990", - "UPHENO:0050625", - "UPHENO:0074589", - "UPHENO:0066927", + "HP:0033354", + "HP:0002157", + "CHEBI:55370", + "UBERON:8450002", + "UPHENO:0081547", + "HP:0012337", + "HP:0032180", + "UPHENO:0082536", + "HP:0001992", + "UBERON:0002390", + "UBERON:0010000", + "UBERON:0010363", + "HP:0001942", + "UPHENO:0076692", + "UPHENO:0002536", + "HP:0006487", + "UPHENO:0068538", + "UBERON:0004120", + "HP:0040064", + "UPHENO:0068144", + "UBERON:0010707", + "UPHENO:0002964", + "UBERON:0002101", + "UPHENO:0086128", + "UPHENO:0049587", + "CHEBI:33595", + "CHEBI:24431", "UPHENO:0000541", - "UPHENO:0087339", - "UPHENO:0075220", - "UPHENO:0003055", + "CHEBI:33285", + "CHEBI:25367", + "UPHENO:0076727", + "UPHENO:0079873", + "UPHENO:0001003", + "UPHENO:0031193", + "GO:0040007", + "CHEBI:33582", + "UBERON:0000465", + "UPHENO:0082539", "PR:000050567", - "HP:0000080", - "UBERON:0006800", - "GO:0006325", - "CL:0002242", - "HP:0000078", - "UPHENO:0053644", - "HP:0009601", - "GO:0051319", - "GO:0051325", - "GO:0044848", - "GO:0009987", - "HP:0011018", - "UBERON:0010000", - "GO:0007049", - "UPHENO:0050121", - "UPHENO:0087501", - "HP:0003214", - "UPHENO:0004523", - "HP:0025461", - "GO:0005623", - "HP:0004742", - "UBERON:0001456", - "UPHENO:0075787", - "UBERON:0001436", - "UPHENO:0080662", - "UPHENO:0088170", - "UBERON:0000948", - "GO:0048519", - "HP:0040070", - "UBERON:0002090", - "UBERON:0000991", - "UPHENO:0031839", - "UBERON:0002416", - "GO:0048523", - "UPHENO:0054970", - "HP:0000951", - "UBERON:0011582", - "HP:0011276", - "GO:0044237", - "HP:0001574", - "HP:0000240", - "HP:0001172", - "UBERON:0004175", - "HP:0012638", - "UPHENO:0074584", - "HP:0000478", - "UPHENO:0026028", - "UPHENO:0074575", - "UPHENO:0001005", - "UPHENO:0054957", - "UPHENO:0003116", - "UPHENO:0076739", - "HP:0011446", - "UPHENO:0050008", - "NCBITaxon:33208", - "UPHENO:0085302", - "UBERON:0010314", - "GO:0006259", - "OBI:0100026", - "UPHENO:0086589", - "HP:0011961", - "UPHENO:0003811", - "UPHENO:0076702", - "HP:0011028", - "UBERON:0011250", - "UPHENO:0049367", - "UPHENO:0022529", - "UBERON:0012139", - "UBERON:0015023", - "UPHENO:0010795", - "UBERON:0003607", - "UPHENO:0087518", - "UPHENO:0076805", - "UPHENO:0084763", - "UPHENO:0088166", - "HP:0010935", - "UBERON:0002398", - "GO:0033554", - "UPHENO:0009382", - "UBERON:0004100", - "HP:0000234", - "UPHENO:0085356", - "HP:0000980", - "HP:0100547", - "UBERON:0001890", - "HP:0000152", - "UBERON:0007811", - "UPHENO:0002910", - "HP:0002011", - "HP:0009121", - "UPHENO:0002764", + "BFO:0000003", "HP:0011844", - "UPHENO:0049701", - "UPHENO:0053298", - "HP:0001877", - "UPHENO:0011498", + "UBERON:0004709", + "CHEBI:24833", + "UBERON:0001008", + 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"UPHENO:0082129", + "HP:0001939", + "UBERON:0011216", + "UBERON:0001969", + "UBERON:0005172", + "UPHENO:0052038", + "HP:0020129", + "UPHENO:0046348", + "UBERON:0005177", + "UPHENO:0051847", + "CHEBI:36359", + "HP:0003110", + "UBERON:0001088", + "UPHENO:0051686", + "UPHENO:0051739", + "UPHENO:0051900", + "UPHENO:0068292", + "UPHENO:0084654", + "CHEBI:26082", + "HP:0010935", + "UBERON:0004122", + "UBERON:0002100", + "UPHENO:0082875", + "UBERON:0001474", + "HP:0011277", + "HP:0012599", + "CHEBI:33241", + "HP:0040156", + "UBERON:0000463", + "CHEBI:26020", + "UPHENO:0084763", + "HP:0000924", + "UBERON:0000174", + "GO:0001503", + "UPHENO:0081423", + "UPHENO:0002642", + "HP:0003126", + "UPHENO:0002803", + "UPHENO:0002832", + "HP:0002748", + "UBERON:0004708", + "UBERON:0001434", + "UBERON:0000062", + "HP:0000083", + "GO:0032501", + "UPHENO:0082835", + "UPHENO:0075696", + "HP:0011842", + "HP:0004348", + "UPHENO:0084653", + "UBERON:0002204", + "UPHENO:0068054", + "UPHENO:0020041", + "HP:0003330", + "UPHENO:0041610", + "UBERON:0000467", + "UBERON:0004765", + "UPHENO:0068251", + "UBERON:0004288", + "UBERON:0000064", + "HP:0002814", + "RO:0002577", + "UBERON:0034944", + "UPHENO:0002896", + "UPHENO:0080300", + "UPHENO:0004459", + "UBERON:0002428", + "UBERON:0005913", + "UBERON:0004381", + "UPHENO:0080352", + "UBERON:0000179", + "UBERON:0000026", + "HP:0033127", + "UPHENO:0086635", + "UBERON:0000475", + "UPHENO:0041536", + "UBERON:0002529", + "UPHENO:0086780", + "UBERON:0000075", "UBERON:0010912", - "UBERON:0000020", - "UPHENO:0076799", - "UPHENO:0075195", - "UBERON:0012141", - "UPHENO:0080126", - "UBERON:0005172", - "HP:0000252", - "HP:0001881", + "UBERON:0011582", + "CHEBI:25806", + "UPHENO:0082449", + "HP:0004322", + "UBERON:0015061", + "CHEBI:33917", + "UBERON:0004375", + "UBERON:0002103", + "UBERON:0010538", + "UPHENO:0051630", + "UPHENO:0068190", + "UBERON:0010712", + "CHEBI:35605", + "UPHENO:0041591", + "UBERON:0002091", + "UPHENO:0031310", + "UPHENO:0020584", + 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"UPHENO:0002536", - "HP:0011354", - "UPHENO:0087846", - "UBERON:0001434", - "UBERON:0012475", - "UBERON:0000915", - "UPHENO:0088318", - "UBERON:0000481", - "HP:0000027", - "UPHENO:0081566", - "UPHENO:0002708", - "UPHENO:0002948", - "BFO:0000015", - "UPHENO:0080079", - "HP:0000924", - "HP:0012443", - "HP:0012639", - "HP:0020047", - "UPHENO:0086172", - "UPHENO:0081755", - "UPHENO:0049588", - "GO:0031052", - "UBERON:0013702", + "UPHENO:0068472", + "UBERON:0000154", + "HP:0003259", "UBERON:0010758", - "HP:0009815", - "HP:0040195", - "HP:0000315", - "CL:0002092", - "UPHENO:0087349", - "HP:0033127", - "UPHENO:0053580", - "UPHENO:0080200", - "UPHENO:0025100", - "UBERON:0010230", - "HP:0011017", - "UBERON:0002495", - "UPHENO:0085874", - "UPHENO:0080377", - "UBERON:5102544", - "UBERON:0015021", - "UBERON:0002113", - "HP:0001896", - "GO:0003008", - "CL:0000766", - "UBERON:0006717", - "HP:0000086", - "UBERON:0001460", - "UBERON:0000949", - "UBERON:0000466", - "UPHENO:0069523", - "UBERON:0000033", - "UBERON:0001009", - "UPHENO:0002832", - "HP:0000365", - "HP:0012210", + "UPHENO:0068040", + "UBERON:0008784", + "UPHENO:0077858", + "UPHENO:0003070", + "UBERON:0010740", + ], + "has_phenotype_closure_label": [ + "macromolecule", + "abnormal independent continuant protein polypeptide chain level", + "Low-molecular-weight proteinuria", + "increased level of protein polypeptide chain in independent continuant", + "Abnormal urine protein level", + "peptide", + "increased level of carboxylic acid in independent continuant", + "organic amino compound", + "carboxylic acid", + "increased level of amino acid in urine", + "hydroxides", + "carbon oxoacid", + "carbonyl compound", + "abnormal independent continuant amino acid level", + "Abnormal urine pH", + "increased independent continuant base level", + "abnormal urine amino acid level", + "hydrogen molecular entity", + "increased level of organic acid in urine", + "amino acid", + "increased level of amino acid in independent continuant", + "increased level of organic acid in independent continuant", + "abnormal amino acid level", + "abnormal size of anatomical entity", + "Short stature", + "Abnormality of body height", + "decreased size of the anatomical entity in the independent continuant", + "decreased height of the multicellular organism", + "kidney", + "cavitated compound organ", + "abdomen element", + "Abnormality of the kidney", + "Renal insufficiency", + "trunk region element", + "abnormal kidney", + "abdominal segment of trunk", + "trunk", + "abdomen", + "Abnormality of the upper urinary tract", + "non-functional kidney", + "non-functional anatomical entity", + "main body axis", + "subdivision of organism along main body axis", + "increased level of glucose in independent continuant", + "Abnormal urine metabolite level", + "body proper", + "increased level of glucose in urine", + "carbohydrates and carbohydrate derivatives", + "increased level of monosaccharide in urine", + "abnormal role urine level", + "Abnormal urinary organic compound level", + "glucose", + "aldose", + "hexose", + "abnormal urine glucose level", + "Abnormal urine carboxylic acid level", + "abnormality of multicellular organism height", + "abnormal phosphate level", + "abnormality of kidney physiology", + "main group molecular entity", + "increased level of creatinine in independent continuant", + "primary amide", + "abnormal blood nitrogen molecular entity level", + "increased level of creatinine in blood", + "increased bodily fluid acid level", + "decreased height of the anatomical entity", + "abnormal metabolite independent continuant level", + "organonitrogen heterocyclic compound", + "abnormal shape of continuant", + "molecule", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormality of anatomical entity height", + "bone of appendage girdle complex", + "oxygen molecular entity", + "anatomical system", + "abnormal independent continuant carbohydrate level", + "organic molecule", + "abnormal independent continuant nitrogen molecular entity level", + "abnormal anatomical entity", + "organooxygen compound", + "upper urinary tract", + "Abnormality of urine homeostasis", + "shape anatomical entity", + "blood plasma", + "decreased size of the anatomical entity", + "blood", + "abdominal segment element", + "Glycosuria", + "Abnormal bone ossification", + "hindlimb", + "organic molecular entity", + "heteromonocyclic compound", + "haemolymphatic fluid", + "multicellular organism", + "hematopoietic system", + "increased level of nitrogen molecular entity in blood", + "abnormal blood chemical entity level", + "imidazolidines", + "increased level of chemical entity in blood serum", + "urine", + "increased level of creatinine in blood serum", + "excretory system", + "imidazolidinone", + "Abnormal circulating creatinine concentration", + "increased level of chemical entity", + "heteroorganic entity", + "abnormal role blood serum level", + "phosphorus molecular entity", + "Azotemia", + "cyclic amide", + "paired limb/fin segment", + "pnictogen molecular entity", + "abnormal blood serum chemical entity level", + "curved long bone", + "phenotype by ontology source", + "growth", + "monocyclic compound", + "Abnormal bone structure", + "organic cyclic compound", + "phenotype", + "abnormal role blood level", + "Abnormality of metabolism/homeostasis", + "long bone", + "increased independent continuant acid level", + "chemical entity", + "material anatomical entity", + "Metabolic acidosis", + "Abnormal renal physiology", + "chalcogen molecular entity", + "s-block molecular entity", + "increased level of chemical entity in blood plasma", + "Elevated circulating creatinine concentration", + "abnormal independent continuant creatinine level", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "organism substance", + "increased level of chemical entity in blood", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "abnormal role independent continuant level", + "process", + "abnormal blood plasma chemical entity level", + "multi-limb segment region", + "bodily fluid", + "abnormal urine phosphate level", + "subdivision of trunk", + "abnormal phenotype by ontology source", + "independent continuant", + "abnormal growth", + "genitourinary system", + "abnormal blood creatinine level", + "abnormal acid independent continuant level", + "organic heteromonocyclic compound", + "oxoacid", + "delayed biological_process", + "limb skeleton subdivision", + "Abnormal circulating nitrogen compound concentration", + "abnormal independent continuant chemical entity level", + "carbon group molecular entity", + "increased blood serum role level", + "abnormal acid bodily fluid level", + "organic oxo compound", + "excreta", + "phosphorus oxoacid derivative", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "curvature anatomical entity in independent continuant", + "anatomical structure", + "polypeptide", + "abnormal limb", + "Abnormality of bone mineral density", + "Bowing of the long bones", + "Acidosis", + "material entity", + "Phenotypic abnormality", + "Hyperphosphaturia", + "Abnormal circulating organic compound concentration", + "increased level of chemical entity in bodily fluid", + "increased level of chemical entity in urine", + "delayed growth", + "abnormal bone element mass density", + "posterior region of body", + "multicellular anatomical structure", + "blood serum", + "increased level of chemical entity in independent continuant", + "metabolic process", + "p-block molecular entity", + "Elevated urinary carboxylic acid", + "skeleton", + "anatomical entity", + "carboxamide", + "endochondral element", + "organ", + "occurrent", + "appendicular skeleton", + "Abnormality of acid-base homeostasis", + "Abnormal homeostasis", + "organochalcogen compound", + "homeostatic process", + "abnormal hindlimb zeugopod morphology", + "appendage girdle complex", + "organic heterocyclic compound", + "organic acid", + "Abnormal circulating metabolite concentration", + "ossification", + "abnormal hindlimb zeugopod", + "organism subdivision", + "protein polypeptide chain", + "continuant", + "cyclic compound", + "appendage", + "organonitrogen compound", + "polyatomic entity", + "abnormal role bodily fluid level", + "abnormal biological_process", + "lactam", + "increased independent continuant role level", + "creatinine", + "subdivision of skeletal system", + "entity", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "Growth abnormality", + "increased blood role level", + "leg", + "Abnormality of the skeletal system", + "Bowing of the legs", + "abnormal independent continuant phosphate level", + "abnormal leg", + "All", + "anatomical collection", + "Growth delay", + "diaphysis", + "renal system", + "abnormal urine chemical entity level", + "Abnormality of the urinary system physiology", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "zone of bone organ", + "abnormality of anatomical entity physiology", + "compound organ", + "phosphorus oxoacids and derivatives", + "quality", + "abnormality of renal system physiology", + "phosphoric acid derivative", + "abnormal renal system", + "hindlimb zeugopod", + "Abnormal long bone morphology", + "increased level of phosphate in urine", + "oxoacid derivative", + "Aciduria", + "Abnormality of the urinary system", + "abnormal genitourinary system", + "abnormal hindlimb morphology", + "abnormal multicellular organism chemical entity level", + "phosphate", + "Abnormality of the genitourinary system", + "shape hindlimb zeugopod", + "increased level of phosphate in independent continuant", + "abnormal skeletal system", + "Abnormal skeletal morphology", + "Proteinuria", + "protein-containing material entity", + "abnormal skeletal system morphology", + "Abnormality of the musculoskeletal system", + "abnormal upper urinary tract", + "curvature anatomical entity", + "musculoskeletal system", + "hemolymphoid system", + "Rickets", + "abnormal independent continuant glucose level", + "abnormal anatomical entity morphology in the pelvic complex", + "abnormal hindlimb zeugopod, curved", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "abnormal anatomical entity mass density", + "heterocyclic compound", + "skeletal system", + "multicellular organismal process", + "organ part", + "abnormal size of multicellular organism", + "bone element", + "Decreased anatomical entity mass density", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "increased level of monosaccharide in independent continuant", + "Aminoaciduria", + "organ system subdivision", + "increased level of nitrogen molecular entity in independent continuant", + "abnormal diaphysis morphology in the independent continuant", + "diazolidine", + "Reduced bone mineral density", + "Abnormality of the lower limb", + "curved anatomical entity in independent continuant", + "abnormal appendicular skeleton morphology", + "limb bone", + "skeleton of limb", + "abnormal anatomical entity morphology in the independent continuant", + "increased level of protein polypeptide chain in urine", + "limb segment", + "abnormal anatomical entity, curved", + "curved anatomical entity", + "abnormal long bone morphology", + "aldohexose", + "zone of organ", + "shape anatomical entity in independent continuant", + "limb", + "pelvic appendage", + "zone of long bone", + "Abnormality of the calf", + "paired limb/fin", + "subdivision of organism along appendicular axis", + "heteroatomic molecular entity", + "paired limb/fin skeleton", + "limb endochondral element", + "bone of free limb or fin", + "abnormal limb bone morphology", + "lateral structure", + "curved hindlimb zeugopod", + "system", + "monosaccharide", + "Abnormal appendicular skeleton morphology", + "amide", + "Abnormality of limb bone", + "Organic aciduria", + "Abnormal diaphysis morphology", + "subdivision of skeleton", + "endochondral bone", + "pelvic complex", + "abnormal chemical entity level", + "appendicular skeletal system", + "increased level of organic molecular entity in independent continuant", + "abnormal limb bone", + "shape long bone", + "lower limb segment", + "skeletal element", + "zeugopod", + "nitrogen molecular entity", + "abnormal limb morphology", + "abnormal diaphysis morphology", + "increased bodily fluid role level", + "biological_process", + "carbohydrate", + ], + }, + { + "id": "MONDO:0100238", + "category": "biolink:Disease", + "name": "inherited Fanconi renotubular syndrome", + "xref": ["OMIMPS:134600"], + "provided_by": "phenio_nodes", + "description": "An instance of Fanconi renotubular syndrome that is inherited.", + "synonym": ["hereditary Fanconi renotubular syndrome"], + "namespace": "MONDO", + "has_phenotype_count": 0, + }, + { + "id": "MONDO:0024525", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 1", + "xref": ["DOID:0080757", "OMIM:134600"], + "provided_by": "phenio_nodes", + "synonym": [ + "DeToni-Debré-Fanconi syndrome", + "FRTS1", + "Fanconi renotubular syndrome", + "Fanconi renotubular syndrome 1", + "Fanconi syndrome without cystinosis", + "Luder-Sheldon syndrome", + "adult Fanconi syndrome", + "primary Fanconi renal syndrome", + "primary Fanconi renotubular syndrome", + "renal Fanconi syndrome", + ], + "namespace": "MONDO", + "has_phenotype": [ + "HP:0002749", + "HP:0001942", + "HP:0003648", + "HP:0001324", + "HP:0003155", + "HP:0002148", + "HP:0000124", + "HP:0003109", + "HP:0002900", + "HP:0002748", + "HP:0034359", + "HP:0003076", + "HP:0003355", + "HP:0004322", + "HP:0003126", + "HP:0000083", + ], + "has_phenotype_label": [ + "Osteomalacia", + "Metabolic acidosis", + "Lacticaciduria", + "Muscle weakness", + "Elevated circulating alkaline phosphatase concentration", + "Hypophosphatemia", + "Renal tubular dysfunction", + "Hyperphosphaturia", + "Hypokalemia", + "Rickets", + "Impaired renal tubular reabsorption of phosphate", + "Glycosuria", + "Aminoaciduria", + "Short stature", + "Low-molecular-weight proteinuria", + "Renal insufficiency", + ], + "has_phenotype_count": 16, + "has_phenotype_closure": [ + "UPHENO:0068565", + "CHEBI:37622", + "CHEBI:15841", + "CHEBI:32988", + "CHEBI:16541", + "UPHENO:0068247", + "CHEBI:16670", + "GO:0040007", "UPHENO:0081424", - "UPHENO:0074572", - "UBERON:8450002", - "UPHENO:0087427", - "UBERON:0011138", - "UPHENO:0026181", - "HP:0001874", - "BFO:0000003", - "UPHENO:0076675", - "UBERON:0002616", - "HP:0008373", - "HP:0011121", - "UPHENO:0068971", - "UBERON:0003103", - "UBERON:0004375", - "HP:0012130", - "UBERON:0005881", - "HP:0001000", - "HP:0011893", - "UPHENO:0086176", - "UBERON:0005173", - "UBERON:0002417", - "HP:0006496", - "HP:0012372", - "HP:0005927", - "UBERON:0002100", - "HP:0000549", - "UPHENO:0076791", - "UBERON:0001893", - "UBERON:0000916", - "GO:0032501", - "UBERON:0005451", - "HP:0100542", - "NBO:0000313", - "UBERON:0004535", - "HP:0000119", - "UPHENO:0041226", - "UPHENO:0046707", - "UPHENO:0002635", - "UPHENO:0026506", - "UBERON:5006048", - "UBERON:0012357", - "UBERON:0001008", - "HP:0011025", - "HP:0009943", - "UBERON:0002390", - "UBERON:0034923", - "UPHENO:0079876", - "UPHENO:0002844", - "UPHENO:0085405", - "UPHENO:0050620", - "UBERON:0004122", - "HP:0000001", - "UPHENO:0075902", - "UBERON:0011216", - "UBERON:0000062", - "UPHENO:0002903", - "UPHENO:0076727", - "UPHENO:0002332", - "HP:0002813", - "UBERON:0015061", - "GO:0008150", - "HP:0040068", - "UPHENO:0087907", - "GO:0071824", - "UPHENO:0002642", - "HP:0100543", - "HP:0001249", - "UBERON:0000075", - "UPHENO:0084447", + "UPHENO:0086132", + "UPHENO:0075195", "UPHENO:0049874", - "PATO:0000001", - "HP:0009825", - "UPHENO:0015280", + "UPHENO:0020584", + "UPHENO:0069254", + "UPHENO:0000541", + "UPHENO:0075159", + "UPHENO:0068169", + "CHEBI:35605", + "UPHENO:0068495", + "CHEBI:33575", + "CHEBI:24651", + "UPHENO:0046286", + "HP:0003355", + "CHEBI:36587", + "UPHENO:0068091", + "HP:0031980", + "UPHENO:0051670", + "CHEBI:33709", + "UPHENO:0068040", + "CHEBI:33608", + "UPHENO:0068144", + "UPHENO:0068538", + "UPHENO:0080658", "UPHENO:0000543", - "UPHENO:0050116", - "UBERON:0002471", - "UPHENO:0076718", - "UBERON:0010323", - "UPHENO:0002219", - "NCBITaxon:131567", - "UPHENO:0087123", - "UPHENO:0085042", - "UPHENO:0085354", - "UPHENO:0081423", - "HP:0001909", - "UPHENO:0003020", - "UBERON:0010712", - "GO:0022403", - "UPHENO:0085118", - "NCBITaxon:6072", - "GO:0050794", - "HP:0000104", - "GO:0050890", - "HP:0000486", - "UPHENO:0004459", - "HP:0001903", - "UPHENO:0076779", - "UBERON:0003133", - "UBERON:0001016", - "HP:0005922", - "GO:0050877", - "HP:0000081", - "HP:0000271", - "UPHENO:0085371", - "UBERON:0006058", - "GO:0009889", - "CL:0000219", - "UPHENO:0087355", - "UPHENO:0084928", - "UBERON:0002193", - "HP:0032309", - "UPHENO:0086019", - "UBERON:0001017", - "HP:0031704", - "UPHENO:0085189", - "UBERON:0002101", - "UPHENO:0049952", - "UBERON:0009569", - "UBERON:0007798", - "UPHENO:0077426", - "HP:0032251", - "UBERON:0002204", - "UBERON:0011143", - "UBERON:0013701", - "HP:0010987", - "UPHENO:0086045", - "UPHENO:0002406", - "BFO:0000001", - "UPHENO:0060026", - "HP:0000118", - "UBERON:0001690", - "UPHENO:0063722", - "HP:0011297", - "UPHENO:0075696", - "UPHENO:0076692", - "HP:0000085", - "UBERON:0019221", - "HP:0000135", - "UPHENO:0087472", + "HP:0003076", + "HP:0000002", + "HP:0033354", + "UPHENO:0068054", + "CHEBI:36962", + "CHEBI:25806", + "CHEBI:17234", + "CHEBI:35381", + "CHEBI:18133", + "HP:0034359", + "UPHENO:0051191", + "CHEBI:33917", + "HP:0011038", + "GO:0003008", + "GO:0003014", + "UPHENO:0051280", + "HP:0011036", + "CHEBI:33504", + "CHEBI:33694", + "UPHENO:0077821", + "CHEBI:36357", + "PR:000018263", + "CHEBI:33675", + "HP:0004379", + "HP:0000079", + "CHEBI:35352", + "HP:0100529", + "UPHENO:0068971", + "CHEBI:33695", + "GO:0001503", + "CHEBI:50860", + "HP:0012379", "BFO:0000020", - "HP:0003213", - "HP:0002715", - "HP:0010974", - "HP:0009142", - "UPHENO:0001002", - "CL:0000775", - "UBERON:0001442", - "UPHENO:0002803", - "HP:0009822", - "UBERON:0010538", - "CL:0000233", - "HP:0000028", - "UBERON:0015212", - "CL:0000738", - "UPHENO:0035025", - "HP:0025354", - "UPHENO:0006910", - "UBERON:0000970", - "UPHENO:0088338", - "UBERON:0004120", - "UPHENO:0001001", - "UPHENO:0088176", - "CL:0002422", - "UBERON:0001062", - "UPHENO:0082444", - "UPHENO:0054261", - "UPHENO:0086016", - "HP:0000978", - "UBERON:0002405", - "UPHENO:0020584", - "NBO:0000444", - "HP:0009777", + "UPHENO:0012541", + "UPHENO:0068491", + "CHEBI:36360", + "PR:000064867", + "UPHENO:0046362", + "UPHENO:0081777", + "UBERON:0009773", + "HP:6000531", + "UPHENO:0068352", + "CHEBI:23367", + "UPHENO:0076289", + "HP:0001324", + "UPHENO:0002442", + "PATO:0000001", + "UPHENO:0081423", + "UPHENO:0002642", + "UPHENO:0051801", + "CHEBI:60911", + "HP:0000001", + "GO:0070293", + "UBERON:0004111", + "UPHENO:0068511", + "BFO:0000002", + "CHEBI:60004", + "CHEBI:33302", + "UBERON:8450002", + "UPHENO:0082542", + "HP:0000119", + "UPHENO:0002964", + "UBERON:0001088", + "BFO:0000004", + "UPHENO:0080352", + "UBERON:0000179", + "UPHENO:0046284", + "HP:0012072", + "HP:0032943", + "CHEBI:36963", + "UPHENO:0051186", + "UPHENO:0080555", + "UPHENO:0024906", "HP:0001939", - "CL:0000763", - "UPHENO:0086005", - "HP:0000707", - "HP:0001911", - "UPHENO:0059829", - "UPHENO:0087802", - "UBERON:0000489", - "UBERON:0000153", - "UPHENO:0084761", - "UPHENO:0052178", - "NCBITaxon:2759", + "UPHENO:0001002", + "CHEBI:60242", + "BFO:0000003", + "CHEBI:59999", + "PR:000050567", + "UPHENO:0082835", + "CHEBI:64709", + "UPHENO:0079536", + "UBERON:0003914", + "HP:0001942", + "UBERON:0011216", + "UBERON:0001434", + "UBERON:0005090", "UBERON:0000468", - "UBERON:0010741", - "HP:0000815", - "CL:0000094", - "HP:0011314", - "UPHENO:0085984", - "HP:0001507", - "HP:0001871", - "UBERON:5106048", - "UBERON:0001463", - "GO:0043170", - "UPHENO:0002433", - "UBERON:0000061", - "UBERON:0015203", - "UBERON:0007100", - "UPHENO:0085330", - "UPHENO:0085344", - "UBERON:0002389", - "GO:0009892", - "UPHENO:0088335", - "UPHENO:0086201", - "UBERON:0002513", - "GO:0050896", - "UBERON:0000475", - "UBERON:0000467", - "UBERON:0015204", - "UPHENO:0024906", - "HP:0002818", - "HP:0012759", - "UBERON:0006048", + "UPHENO:0034253", + "HP:0000093", + "GO:0055062", + "UBERON:0002417", + "CHEBI:22314", "GO:0008152", - "UBERON:0000073", - "HP:0003221", - "BFO:0000004", - "UBERON:0000047", - "UPHENO:0026023", - "HP:0000929", - "UPHENO:0085068", - "GO:0043473", - "BFO:0000040", - "CL:0000081", - "UBERON:0019231", - "GO:0031323", - "UPHENO:0086002", - "UBERON:0011249", - "UPHENO:0085076", - "UPHENO:0080099", - "HP:0000953", - "UPHENO:0087089", - "HP:0000032", - "UBERON:0004288", - "UBERON:0012354", - "UPHENO:0088162", - "UPHENO:0005597", - "UPHENO:0002378", + "UPHENO:0086128", + "UPHENO:0049587", + "UPHENO:0051635", + "UBERON:0000383", + "UPHENO:0001005", + "CHEBI:15693", + "UPHENO:0081544", + "HP:0020129", + "UPHENO:0046348", + "UPHENO:0066927", + "HP:0000083", + "HP:0011804", + "GO:0032501", + "GO:0050801", + "UBERON:0001015", + "CHEBI:37247", + "UPHENO:0051640", + "UPHENO:0081546", + "CHEBI:51143", + "HP:0004360", + "UPHENO:0034391", + "HP:0000118", + "UPHENO:0068094", + "UBERON:0000178", + "UPHENO:0002536", + "UPHENO:0076692", + "HP:0011849", + "UPHENO:0048707", + "UBERON:0001231", + "UPHENO:0068110", + "UBERON:0003103", + "UPHENO:0002320", + "UPHENO:0084653", + "UPHENO:0001001", + "UBERON:0000062", + "UPHENO:0084654", + "UPHENO:0034351", + "UPHENO:0068292", + "UBERON:0001474", "UPHENO:0082875", - "UPHENO:0076723", - "UBERON:0005156", - "UPHENO:0085195", - "CL:0000000", + "UBERON:0002100", + "CHEBI:28358", + "UPHENO:0076703", + "UPHENO:0015280", + "UPHENO:0081548", + "UBERON:0002204", + "UPHENO:0082539", + "CHEBI:33582", "UBERON:0000465", - "HP:0003220", - "UBERON:0000026", + "UPHENO:0082538", + "UBERON:0000489", + "BFO:0000001", + "CHEBI:24833", + "UBERON:0001008", + "UPHENO:0082834", + "BFO:0000040", + "HP:0004349", + "GO:0042592", + "HP:0004348", + "HP:0002749", + "CHEBI:23906", + "HP:0003011", + "HP:0012337", + "UBERON:0006314", + "CHEBI:36080", + "CHEBI:50047", + "UPHENO:0068089", + "BFO:0000015", + "UBERON:0000174", + "HP:0000924", + "HP:0003330", + "UPHENO:0078554", + "UPHENO:0002332", + "CHEBI:33259", + "HP:0011277", + "UPHENO:0046283", + "UBERON:0001630", + "HP:0033127", + "CHEBI:33285", + "UPHENO:0001003", + "HP:0003155", + "UPHENO:0080556", + "HP:0002900", + "UBERON:0000467", + "UBERON:0004765", + "UPHENO:0081550", + "UPHENO:0080659", + "UPHENO:0051668", + "CHEBI:33579", + "HP:0003110", + "CHEBI:36359", + "GO:0008150", + "UPHENO:0051763", + "HP:0011842", + "UPHENO:0075696", + "HP:0001871", + "UBERON:0001062", + "CHEBI:72695", + "UPHENO:0068064", + "CHEBI:26079", + "CHEBI:33839", + "UPHENO:0082943", + "UPHENO:0075666", + "UPHENO:0002411", + "UBERON:0004120", + "HP:0002148", + "CHEBI:33304", + "HP:0010930", + "UBERON:0013702", + "UPHENO:0050080", + "GO:0098771", + "UPHENO:0004459", + "UPHENO:0080351", + "UPHENO:0076286", + "CHEBI:33250", + "UBERON:0002113", + "HP:0032180", + "CHEBI:25367", + "HP:0011042", + "CHEBI:26082", + "UPHENO:0049904", + "UPHENO:0066739", + "UPHENO:0075902", + "GO:0048878", + "UPHENO:0051937", + "UBERON:0002193", + "UPHENO:0051960", + "CHEBI:24870", + "UBERON:0000064", + "CHEBI:33241", + "HP:0001507", + "CHEBI:37577", + "HP:0012591", + "HP:0001510", + "HP:0003109", + "HP:0034684", + "CHEBI:24867", + "CHEBI:33256", + "UBERON:0000025", + "UPHENO:0051739", + "UPHENO:0079824", + "UPHENO:0051900", + "UPHENO:0049628", + "CHEBI:33238", + "UPHENO:0052008", + "HP:0040156", "UBERON:0000463", - "CL:0000225", - "UPHENO:0001003", - ], - "has_phenotype_closure_label": [ - "abnormal shape of continuant", - "concave 3-D shape anatomical entity", - "Horseshoe kidney", - "3-D shape anatomical entity", - "shape anatomical entity in independent continuant", - "abnormal DNA damage response", - "DNA damage response", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "cellular response to stimulus", - "Abnormality of DNA repair", - "decreased sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "Abnormal ear physiology", - "Abnormality of the ear", - "abnormality of ear physiology", - "abnormal DNA repair", - "Hearing abnormality", - "non-material anatomical boundary", - "abnormal behavior", - "response to stimulus", - "eye movement", - "anatomical line", - "abnormal response to stimulus", - "Abnormality of eye movement", - "Abnormal eye physiology", - "abnormality of camera-type eye physiology", - "abnormal behavior process", - "abnormal size of multicellular organism", - "decreased height of the anatomical entity", - "decreased size of the multicellular organism", - "abnormality of anatomical entity height", - "delayed growth", - "Growth delay", - "Abnormality of body height", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "ear", - "Neoplasm by anatomical site", - "delayed biological_process", - "Irregular hyperpigmentation", - "Hypermelanotic macule", - "abnormal response to stress", - "Cafe-au-lait spot", - "Localized skin lesion", - "Strabismus", - "circulatory organ", - "thoracic segment organ", - "heart plus pericardium", - "Abnormality of cardiovascular system morphology", - "primary circulatory organ", - "vasculature", - "cardiovascular system", - "Internal hemorrhage", - "thoracic segment of trunk", - "vascular system", - "abnormality of cardiovascular system physiology", - "Abnormality of the vasculature", - "Abnormal cardiovascular system physiology", - "abnormal cardiovascular system", - "circulatory system process", - "Complete duplication of phalanx of hand", - "Duplication of hand bones", - "manual digit digitopodial skeleton", - "skeleton of manual acropodium", - "Abnormal long bone morphology", - "Abnormality of thumb phalanx", - "Abnormal finger phalanx morphology", - "sensory perception of sound", - "abnormal phalanx of manus morphology", - "phalanx", - "digitopodium bone", - "U-shaped anatomical entity", - "manual digit 1 phalanx endochondral element", - "Duplication of phalanx of hand", - "individual digit of digitopodial skeleton", - "Duplication of thumb phalanx", - "biological regulation", - "abnormal primary metabolic process", - "Leukemia", - "Chromosomal breakage induced by crosslinking agents", - "organic substance metabolic process", - "regulation of cellular process", - "regulation of metabolic process", - "Vascular skin abnormality", - "negative regulation of biological process", - "Generalized abnormality of skin", - "nucleobase-containing compound metabolic process", - "organic cyclic compound metabolic process", - "obsolete heterocycle metabolic process", - "immaterial entity", - "obsolete cellular aromatic compound metabolic process", - "obsolete cellular nitrogen compound metabolic process", - "response to stress", - "cellular component organization", - "regulation of biosynthetic process", - "regulation of cellular metabolic process", - "negative regulation of cellular process", - "organelle organization", - "regulation of gene expression", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "programmed DNA elimination", - "cellular metabolic process", - "negative regulation of gene expression", - "Chromosome breakage", - "regulation of cellular biosynthetic process", - "negative regulation of biosynthetic process", - "negative regulation of macromolecule metabolic process", - "negative regulation of cellular metabolic process", - "DNA metabolic process", - "decreased multicellular organism mass", - "growth", - "Hearing impairment", - "Decreased body weight", - "Small for gestational age", - "Decreased multicellular organism mass", - "visual system", - "manual digit 1 phalanx", - "chromatin organization", - "sensory system", - "eye", - "face", - "orbital region", - "Aplasia/Hypoplasia affecting the eye", - "Microphthalmia", - "subdivision of head", - "entire sense organ system", - "camera-type eye", - "negative regulation of metabolic process", - "abnormal camera-type eye morphology", - "Abnormality of globe size", - "Abnormality of the eye", - "primary metabolic process", - "abnormal enucleated reticulocyte morphology", - "abnormal vasculature", - "Abnormal reticulocyte morphology", - "Complete duplication of thumb phalanx", - "abnormal number of anatomical enitites of type reticulocyte", - "anatomical line between pupils", - "abnormally decreased number of reticulocyte", - "Short finger", - "decreased size of the anatomical entity in the pectoral complex", - "Neurodevelopmental delay", + "CHEBI:26020", + "UPHENO:0034217", + "UBERON:0011676", + "UBERON:0001285", + "UBERON:0013701", + "UBERON:0009569", + "UPHENO:0082543", + "UBERON:0000483", + "CHEBI:24431", + "HP:0003111", + "CHEBI:33318", + "PR:000003968", + "UBERON:0000479", + "UPHENO:0051686", + "CHEBI:36915", + "UBERON:0000475", + "HP:0012211", + "UBERON:0015212", + "CHEBI:78616", + "HP:0000077", + "HP:0001992", + "UBERON:0010000", + "UPHENO:0051709", + "UBERON:0002390", + "UPHENO:0066943", + "UPHENO:0049709", + "HP:0004322", + "CHEBI:26216", + "UBERON:0004211", + "UBERON:0007684", + "UBERON:0004122", + "HP:0010935", + "UBERON:0005172", + "HP:0003126", + "HP:0002748", + "UPHENO:0002832", + "UPHENO:0002803", + "CHEBI:16646", + "HP:0000124", + "UBERON:0000916", + "UBERON:0005173", + "UPHENO:0051847", + "UBERON:0005177", + "UPHENO:0002816", + "UBERON:0011143", + "UBERON:0004819", + "HP:0012599", + "CHEBI:33296", + "PR:000000001", + "UPHENO:0034199", + "UPHENO:0051898", + "UPHENO:0081547", + "CHEBI:25414", + "UPHENO:0068058", + "CHEBI:33674", + "UPHENO:0051930", + "CHEBI:33559", + "CHEBI:25213", + "CHEBI:26217", + "UPHENO:0051645", + "HP:0010929", + "UPHENO:0051958", + "UPHENO:0052116", + "CHEBI:24835", + "CHEBI:36586", + "CHEBI:33521", + "CHEBI:36914", + "UPHENO:0034438", + "UBERON:0006555", + "GO:0055080", + "UBERON:0000061", + "CHEBI:36916", + "UPHENO:0079822", + "HP:0003648", + "HP:0001941", + "UPHENO:0051804", + "CHEBI:29103", + ], + "has_phenotype_closure_label": [ + "Renal insufficiency", + "non-functional kidney", + "non-functional anatomical entity", + "carboxamide", + "increased level of protein polypeptide chain in urine", + "abnormal independent continuant protein polypeptide chain level", + "Low-molecular-weight proteinuria", + "amide", + "increased level of protein polypeptide chain in independent continuant", + "Abnormal urine protein level", + "peptide", + "growth", + "Growth delay", + "Abnormality of body height", "decreased size of the anatomical entity in the independent continuant", - "decreased length of manual digit", - "sensory perception", - "decreased length of anatomical entity", - "decreased length of manual digit 1", - "Short digit", - "autopod endochondral element", - "autopod bone", - "phalanx of manus", - "decreased length of anatomical entity in independent continuant", - "decreased length of digit", - "decreased size of the anatomical entity", - "aplastic forelimb zeugopod bone", - "absent forelimb zeugopod bone", - "sensory perception of mechanical stimulus", - "Aplasia involving forearm bones", - "abnormal limb long bone morphology", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "abnormal forelimb zeugopod bone", - "body part movement", - "absent radius bone in the forelimb", - "manual digit 1 digitopodial skeleton", - "abnormal forelimb zeugopod morphology", - "abnormal long bone morphology", - "Abnormal forearm bone morphology", - "behavior process", - "Aplasia/hypoplasia involving forearm bones", - "absent radius bone in the independent continuant", - "absent radius bone", - "zeugopod", - "macromolecule metabolic process", - "bone of pectoral complex", - "Atypical behavior", - "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "abnormal bone of pectoral complex morphology", - "Abnormal upper limb bone morphology", - "arm bone", - "forelimb long bone", - "radius bone", - "Aplasia involving bones of the extremities", - "long bone", - "Absent forearm bone", - "abnormal number of anatomical enitites of type sperm", - "abnormality of male reproductive system physiology", - "gamete", - "semen", - "developmental process", - "reproduction", - "Abnormal internal genitalia", - "Abnormal testis morphology", - "developmental process involved in reproduction", - "multicellular organismal reproductive process", - "abnormal reproductive process", - "decreased qualitatively developmental process", - "absent anatomical entity in the semen", - "gamete generation", - "abnormal male reproductive system morphology", - "spermatogenesis", - "absent sperm", - "zeugopodial skeleton", - "male gamete generation", - "abnormally localised testis", - "Global developmental delay", - "abnormal multicellular organismal reproductive process", - "absent gamete", - "manual digit bone", - "decreased spermatogenesis", - "abnormal male reproductive system", - "decreased qualitatively sensory perception of sound", - "absent sperm in the semen", - "obsolete multicellular organism reproduction", - "Azoospermia", - "Abnormality of the male genitalia", - "sperm", - "external genitalia", - "anatomical cluster", - "internal genitalia", - "abnormal reproductive system morphology", - "decreased qualitatively biological_process", - "Abnormal spermatogenesis", - "vestibulo-auditory system", - "forelimb endochondral element", - "absent germ cell", - "abnormal internal genitalia", - "external male genitalia", - "abnormal external male genitalia", - "decreased qualitatively reproductive process", - "decreased developmental process", - "abnormal developmental process", - "abnormality of internal male genitalia physiology", - "abnormal gamete generation", - "abnormal heart morphology", - "abnormal external genitalia", - "abnormal developmental process involved in reproduction", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "abnormal orbital region", - "bone marrow cell", - "obsolete nitrogen compound metabolic process", - "platelet", - "biogenic amine secreting cell", - "Short thumb", - "germ line cell", - "bone cell", - "sexual reproduction", - "anucleate cell", - "abnormal male reproductive organ morphology", - "bone marrow", - "secretory cell", - "manual digit phalanx endochondral element", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", - "abnormal bone marrow cell morphology", - "Abnormality of bone marrow cell morphology", - "decreased biological_process", - "serotonin secreting cell", - "forelimb bone", - "Abnormality of thrombocytes", - "abnormal platelet", - "Anemia", - "tissue", - "abnormal erythroid lineage cell morphology", - "nucleic acid metabolic process", - "Absent radius", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "absent kidney in the renal system", - "absent kidney", - "abnormal DNA metabolic process", - "abnormal chromatin organization", - "forelimb", - "abnormal anatomical entity morphology in the skeleton of manus", - "autopodial skeleton", - "abnormal blood circulation", - "Abnormal morphology of the radius", - "bone of free limb or fin", - "abnormal anatomical entity", - "motile cell", - "paired limb/fin", - "abnormal anatomical entity morphology in the manus", - "pectoral appendage", - "abnormal anatomical entity morphology in the pectoral complex", - "central nervous system", - "absent anatomical entity", - "abnormal manus", - "Finger aplasia", - "digitopodium region", - "multi-limb segment region", - "trunk", - "digit 1 plus metapodial segment", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "male reproductive system", - "abnormal cell morphology", - "limb bone", - "abnormal arm", - "Abnormality of skull size", - "Abnormal digit morphology", - "aplasia or hypoplasia of manual digit", - "absent anatomical entity in the skeletal system", - "Abnormal platelet count", - "abnormal forelimb morphology", - "autopodial extension", - "abnormal platelet morphology", - "Abnormality of reproductive system physiology", - "digit plus metapodial segment", - "erythrocyte", - "abnormal limb bone morphology", - "Aplasia/hypoplasia involving bones of the hand", - "G2 phase", - "manual digitopodium region", - "skeleton of digitopodium", - "skeleton of pectoral complex", - "abnormal appendicular skeleton morphology", - "Eumetazoa", - "segment of autopod", - "shape anatomical entity", - "Subcutaneous hemorrhage", - "regional part of nervous system", - "abnormal head", - "digit 1", - "Abnormal erythroid lineage cell morphology", - "male reproductive organ", - "reproductive structure", - "cell cycle", - "abnormal reproductive system", - "manual digit 1 or 5", - "Abnormal platelet morphology", - "abnormally decreased number of platelet", - "Aplasia involving bones of the upper limbs", - "system", - "subdivision of organism along main body axis", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the hand", - "Abnormal hand morphology", - "abnormal manual digit morphology in the independent continuant", - "aplasia or hypoplasia of skeleton", - "forelimb skeleton", - "Intellectual disability", - "absent manual digit", - "digit 1 or 5", - "arm", - "Short stature", - "Abnormality of limb bone", - "abnormal size of eyeball of camera-type eye", - "abnormal face", - "aplastic anatomical entity", - "abnormal eye movement", - "subdivision of organism along appendicular axis", - "cellular response to stress", - "absent anatomical entity in the independent continuant", - "agenesis of anatomical entity", - "bone of appendage girdle complex", - "manual digit", - "Abnormality of limb bone morphology", - "glandular system", - "skull", - "endocrine system", - "abnormal endocrine system", - "Abnormality of the cell cycle", - "Abnormal appendicular skeleton morphology", - "renal system", - "Hypergonadotropic hypogonadism", - "reproductive organ", - "shape kidney", - "Abnormal forearm morphology", - "abnormally decreased number of anatomical entity", - "Hypogonadism", - "endochondral bone", - "abnormal limb bone", - "abnormally decreased functionality of the gonad", - "regional part of brain", - "abnormality of reproductive system physiology", - "digit 1 digitopodial skeleton", - "gonad", - "heart", - "upper limb segment", - "Abnormality of the genital system", - "decreased anatomical entity mass", - "increased pigmentation", + "Growth abnormality", + "delayed growth", + "abnormal anatomical entity morphology in the independent continuant", + "decreased height of the multicellular organism", + "increased level of carboxylic acid in independent continuant", + "carboxylic acid", + "molecule", + "increased level of amino acid in urine", + "hydroxides", + "organic molecule", + "carbonyl compound", + "abnormal size of anatomical entity", + "abnormal amino acid level", + "Organic aciduria", + "abnormal urine amino acid level", + "increased level of organic acid in urine", + "increased level of nitrogen molecular entity in independent continuant", + "amino acid", + "Elevated urinary carboxylic acid", + "increased level of organic acid in independent continuant", + "increased level of glucose in independent continuant", + "Abnormal urine metabolite level", + "carbohydrates and carbohydrate derivatives", + "increased level of monosaccharide in urine", + "oxygen molecular entity", + "organooxygen compound", + "Abnormal urinary organic compound level", + "abnormal independent continuant glucose level", + "aldohexose", + "increased level of organic molecular entity in independent continuant", + "glucose", + "aldose", + "hexose", + "abnormal urine glucose level", + "increased level of monosaccharide in independent continuant", + "abnormal independent continuant carbohydrate level", + "monosaccharide", + "abnormal renal system process", + "renal absorption", + "abnormal renal absorption", + "abnormal independent continuant amino acid level", + "renal system process", + "organic molecular entity", + "protein-containing molecular entity", + "Decreased anatomical entity mass density", + "decreased level of chemical entity in independent continuant", + "Abnormal blood ion concentration", + "increased level of alkaline phosphatase, tissue-nonspecific isozyme", + "main group element atom", + "pnictogen molecular entity", + "abnormality of muscle organ physiology", + "increased level of protein", + "increased level of glucose in urine", + "body proper", + "decreased muscle organ strength", + "polypeptide", + "Abnormality of bone mineral density", + "anatomical structure", + "anatomical conduit", + "abdominal segment of trunk", + "musculature of body", + "monoatomic cation", + "Abnormality of the upper urinary tract", + "chemical substance", + "abnormal independent continuant potassium atom level", + "increased independent continuant base level", + "muscle organ", "anatomical entity dysfunction in independent continuant", - "increased pigmentation in skin of body", - "manual digit 1", - "cellular process", - "Abnormality of metabolism/homeostasis", - "Bruising susceptibility", - "cellular component organization or biogenesis", - "Abnormality of the face", + "rac-lactic acid", + "increased level of rac-lactic acid in urine", + "increased level of chemical entity in urine", + "increased level of chemical entity in bodily fluid", + "decreased anatomical entity strength", + "mixture", + "epithelial tube", + "organic oxo compound", + "excreta", + "abnormal acid bodily fluid level", + "monoatomic monocation", + "Abnormality of the urinary system", + "Aciduria", + "abnormal blood potassium atom level", + "abnormality of anatomical entity height", + "metal atom", + "increased level of rac-lactic acid in independent continuant", + "skeletal element", + "cavitated compound organ", + "delayed biological_process", + "oxoacid", + "Osteomalacia", + "chemical entity", + "increased independent continuant acid level", + "Abnormality of alkaline phosphatase level", + "increased independent continuant role level", + "increased bodily fluid acid level", + "abnormal blood monoatomic ion level", + "decreased level of potassium atom in blood", + "Metabolic acidosis", + "homeostatic process", + "protein", + "phenotype by ontology source", + "decreased level of chemical entity in blood", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "abnormal independent continuant nitrogen molecular entity level", + "Lacticaciduria", + "alkali metal molecular entity", + "entity", "Phenotypic abnormality", - "abnormal digit morphology", + "Hyperphosphaturia", + "abnormal anatomical entity mass density", + "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", + "epithelium", + "abnormality of anatomical entity physiology", + "abnormally decreased functionality of the nephron tubule", + "Abnormal urine pH", + "increased level of chemical entity in independent continuant", + "Abnormal bone structure", + "anatomical system", + "potassium(1+)", + "All", + "abnormal growth", + "independent continuant", + "abnormal anatomical entity", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "abnormal urine chemical entity level", + "monoatomic ion homeostasis", + "decreased height of the anatomical entity", + "abnormal metabolite independent continuant level", + "abnormal size of multicellular organism", + "bone element", + "Abnormal renal tubular resorption", + "anatomical entity", + "multicellular anatomical structure", + "heteroorganic entity", + "abnormal bone element mass density", + "decreased role independent continuant level", + "Muscle weakness", + "organ part", + "abnormal musculature", + "abnormal skeletal system", + "increased level of phosphate in independent continuant", + "abnormal potassium atom level", + "abnormal renal system", + "process", + "Abnormality of acid-base homeostasis", + "tube", + "potassium molecular entity", + "genitourinary system", + "atom", + "carbohydrate", + "increased bodily fluid role level", + "biological_process", + "renal tubule", + "carbon group molecular entity", + "Abnormality of renal excretion", + "abnormal independent continuant chemical entity level", + "protein polypeptide chain", + "continuant", + "nephron", + "amino acid chain", + "tissue", + "Abnormal circulating enzyme concentration or activity", + "organism subdivision", + "urine", + "material entity", + "organic amino compound", + "Acidosis", + "increased level of chemical entity", + "inorganic cation", + "Glycosuria", + "information biomacromolecule", + "abdominal segment element", + "Abnormal bone ossification", + "decreased size of the anatomical entity", + "blood", + "racemate", + "phosphate ion homeostasis", + "inorganic ion", + "abnormal genitourinary system", + "Aminoaciduria", + "organ system subdivision", + "primary amide", + "elemental molecular entity", + "nitrogen molecular entity", + "renal system", + "hydrogen molecular entity", + "nephron tubule", + "phenotype", "Abnormality of the genitourinary system", - "cell cycle phase", - "decreased size of the eyeball of camera-type eye", - "appendage girdle complex", - "abnormal anatomical entity topology in independent continuant", - "limb segment", - "Macule", - "Abnormality of the cardiovascular system", - "skin of body", - "abnormal biological_process", - "multi-tissue structure", - "Abnormal cellular physiology", - "Aplasia/hypoplasia of the extremities", - "biological phase", - "obsolete cell", - "interphase", - "Prolonged G2 phase of cell cycle", + "Reduced bone mineral density", + "inorganic ion homeostasis", + "Impaired renal tubular reabsorption of phosphate", + "multicellular organism", + "hematopoietic system", + "abnormal monoatomic cation homeostasis", + "alkaline phosphatase, tissue-nonspecific isozyme", + "nephron epithelium", + "polyatomic entity", + "increased level of amino acid in independent continuant", + "Abnormality of the musculature", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "abnormal role urine level", + "abnormal chemical entity level", + "organochalcogen compound", + "Abnormal muscle physiology", + "Abnormal homeostasis", + "Abnormal enzyme concentration or activity", + "p-block molecular entity", + "biomacromolecule", + "Abnormality of urine homeostasis", "upper urinary tract", + "occurrent", + "organ", "skeletal system", - "abnormally decreased functionality of the anatomical entity", - "abnormal ear", - "abdominal segment element", - "abnormal cell cycle", - "Abnormality of the upper limb", - "absent anatomical entity in the limb", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "DNA repair", + "Abnormality of the urinary system physiology", + "abnormal blood chemical entity level", + "macromolecule", + "material anatomical entity", + "muscle structure", + "metabolic process", + "bodily fluid", + "abnormal urine phosphate level", + "Abnormality of metabolism/homeostasis", + "abnormal monoatomic ion homeostasis", + "abnormal role blood level", + "organism substance", + "abnormality of kidney physiology", + "Elevated circulating alkaline phosphatase concentration", + "main group molecular entity", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "chemical homeostasis", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "decreased level of potassium atom in independent continuant", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", "Abnormality of the skeletal system", - "digit", - "abdominal segment of trunk", - "abnormal renal collecting system", - "Abnormal cellular immune system morphology", - "Duplicated collecting system", - "viscus", - "integumental system", - "reproductive process", - "abnormal pigmentation", - "Hyperpigmentation of the skin", - "increased qualitatively biological_process in independent continuant", - "reticulocyte", - "abnormal central nervous system morphology", - "increased biological_process", - "abnormal metabolic process", - "changed biological_process rate", - "abnormal integument", - "abnormal growth", - "increased biological_process in skin of body", - "abnormal eyeball of camera-type eye", - "abnormal pigmentation in independent continuant", - "abnormal biological_process in independent continuant", - "abnormal skin of body morphology", - "abnormal sensory perception of sound", - "abnormal testis morphology", - "reproductive system", - "absent anatomical entity in the forelimb", - "abnormal skin of body", - "testis", - "craniocervical region", - "abnormal cellular process", - "abnormal programmed DNA elimination by chromosome breakage", - "Abnormal leukocyte morphology", - "Abnormality of brain morphology", - "abnormally decreased number of leukocyte", - "skeletal element", - "Abnormality of mental function", - "Abnormality of the head", - "Abnormal reproductive system morphology", - "Pancytopenia", - "Morphological central nervous system abnormality", - "manus bone", - "Absent thumb", - "skeleton", - "abnormal anatomical entity morphology in the brain", - "Abnormality of body weight", - "abnormal telencephalon morphology", - "Abnormal conjugate eye movement", - "organ system subdivision", - "process", - "aplasia or hypoplasia of radius bone", + "abnormal independent continuant phosphate level", + "abnormal chemical homeostasis", + "abnormal protein level", + "Abnormality of the musculoskeletal system", + "abnormal phosphate ion homeostasis", + "abdomen element", + "haemolymphatic fluid", + "ion", + "abnormal homeostatic process", + "multicellular organismal process", + "abnormal blood phosphate level", + "Hypophosphatemia", + "monoatomic ion", + "abnormal role bodily fluid level", + "abnormal biological_process", + "potassium atom", + "Proteinuria", + "abnormal skeletal system morphology", + "protein-containing material entity", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "abnormality of renal system physiology", + "quality", + "phosphoric acid derivative", + "trunk", + "phosphorus molecular entity", + "heteroatomic molecular entity", + "abnormal acid independent continuant level", + "monoatomic entity", + "abnormal phenotype by ontology source", + "subdivision of trunk", + "organic acid", + "ossification", + "Abnormal circulating metabolite concentration", "main body axis", - "cellular organisms", - "organism", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "absent kidney in the independent continuant", - "manual digit plus metapodial segment", - "phalanx endochondral element", - "limb skeleton subdivision", - "Microcephaly", - "immune system", - "abnormal craniocervical region", - "postcranial axial skeletal system", - "paired limb/fin skeleton", - "Abnormal cerebral morphology", - "Non-obstructive azoospermia", - "absent anatomical entity in the multicellular organism", - "anterior region of body", - "Abnormality of the integument", - "paired limb/fin segment", - "abnormally decreased number of neutrophil", - "granulocyte", - "abnormally decreased number of hematopoietic cell", - "Eukaryota", - "forebrain", - "Abnormality of multiple cell lineages in the bone marrow", - "anatomical collection", - "abnormal skull morphology", + "excretory system", + "abnormal independent continuant monoatomic ion level", "musculoskeletal system", - "abnormally localised anatomical entity in independent continuant", - "appendicular skeleton", - "Abnormal axial skeleton morphology", - "abnormal autopod region morphology", - "behavior", - "blood cell", - "erythroid lineage cell", - "abnormal size of anatomical entity", - "abnormal number of anatomical enitites of type platelet", - "hematopoietic system", - "abnormal forebrain morphology", - "haploid cell", - "Abnormal renal morphology", - "Abnormality of limbs", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "root", - "Abnormal neutrophil count", - "abnormal organelle organization", - "abnormal head morphology", - "head", - "abnormally decreased number of granulocyte", - "abnormal sensory perception", - "Neurodevelopmental abnormality", - "Abnormal skull morphology", + "abnormal upper urinary tract", + "uriniferous tubule", + "subdivision of organism along main body axis", + "phosphorus oxoacids and derivatives", + "Abnormal blood phosphate concentration", + "kidney epithelium", + "compound organ", + "abdomen", + "Renal tubular dysfunction", + "abnormal kidney", + "trunk region element", + "Abnormality of the kidney", + "lateral structure", + "chalcogen molecular entity", + "Abnormal renal physiology", + "Short stature", + "inorganic molecular entity", + "abnormally decreased functionality of the anatomical entity", + "excretory tube", + "kidney", + "oxoacid derivative", + "increased level of phosphate in urine", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "musculature", + "decreased role blood level", + "abnormal role independent continuant level", + "metal cation", + "monovalent inorganic cation", + "s-block molecular entity", + "s-block element atom", + "Abnormal blood cation concentration", + "organonitrogen compound", + "abnormal independent continuant potassium(1+) level", + "abnormal blood potassium(1+) level", + "carbon oxoacid", + "Abnormal blood potassium concentration", + "abnormal multicellular organism chemical entity level", + "phosphate", + "alkali metal cation", + "elemental potassium", + "Hypokalemia", + "Abnormal blood monovalent inorganic cation concentration", + "monoatomic cation homeostasis", + "cation", + "alkali metal atom", + "hemolymphoid system", + "Rickets", + "abnormality of multicellular organism height", + "Abnormal urine carboxylic acid level", + "decreased level of chemical entity", + "abnormal phosphate level", + "system process", + ], + }, + { + "id": "MONDO:0030056", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 5", + "xref": ["DOID:0080761", "GARD:16392", "OMIM:618913"], + "provided_by": "phenio_nodes", + "synonym": [ + "FANCONI RENOTUBULAR SYNDROME 5", + "FRTS5", + "Fanconi Renotubular Syndrome, Acadian Variant", + "Fanconi renotubular syndrome 5", + ], + "namespace": "MONDO", + "has_phenotype": [ + "HP:0002857", + "HP:0045051", + "HP:0002097", + "HP:0002148", + "HP:0002206", + "HP:0004912", + "HP:0004918", + "HP:0000093", + "HP:0003076", + "HP:0003355", + "HP:0005576", + "HP:0003774", + "HP:0000822", + "HP:0030078", + ], + "has_phenotype_label": [ + "Genu valgum", + "Decreased DLCO", + "Emphysema", + "Hypophosphatemia", + "Pulmonary fibrosis", + "Hypophosphatemic rickets", + "Hyperchloremic metabolic acidosis", + "Proteinuria", + "Glycosuria", + "Aminoaciduria", + "Tubulointerstitial fibrosis", + "Stage 5 chronic kidney disease", + "Hypertension", + "Lung adenocarcinoma", + ], + "has_phenotype_count": 14, + "has_phenotype_closure": [ + "HP:0100526", + "HP:0011793", + "HP:0002664", + "UBERON:0000477", + "UBERON:0034923", + "HP:0002597", + "UPHENO:0002678", + "UBERON:0002049", + "UBERON:0001009", + "UBERON:0000055", + "HP:0001626", + "HP:0000822", + "UBERON:0004535", + "UBERON:0001981", + "HP:0030972", + "HP:0012622", + "UPHENO:0086132", + "HP:0003774", + "HP:0012211", + "UPHENO:0076779", + 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"UPHENO:0041573", + "HP:0030878", + "HP:0045049", + "UBERON:0000978", + "HP:0100529", + "UBERON:0001474", + "UBERON:0002100", + "UPHENO:0082875", + "CHEBI:36963", + "UPHENO:0051186", + "HP:0002086", + "GO:0001503", + "HP:0045051", + "GO:0008150", + "UPHENO:0002448", + "UBERON:0000475", + "UPHENO:0087433", + "UBERON:0001558", + "UBERON:0001285", + "UBERON:0013701", + "UBERON:0009569", + "HP:0002097", + "UPHENO:0068110", + "UBERON:0003103", + "CHEBI:33256", + "UBERON:0000025", + "CHEBI:24867", + "HP:0005576", + "UBERON:0001005", + "PATO:0000001", + "UBERON:0004905", + "HP:0002088", + "UPHENO:0020748", + "UBERON:0005181", + "UBERON:0002075", + "HP:0003355", + "UPHENO:0019970", + "UBERON:0007798", + "CHEBI:33304", + "HP:0002813", + "UBERON:0013702", + "HP:0002148", + "UBERON:0002048", + "UBERON:0000171", + "UBERON:0004119", + "CHEBI:33302", + "UBERON:0034925", + "HP:0002795", + "GO:0042592", + "UPHENO:0087993", + "GO:0008152", + "UPHENO:0086128", + "UPHENO:0049587", + "UPHENO:0080659", + "CHEBI:33579", + "UPHENO:0051668", + "UBERON:0003657", + "CHEBI:23367", + "HP:0032263", + "UPHENO:0046284", + "UBERON:0000915", + "UPHENO:0034391", + "HP:0004360", + "UPHENO:0050080", + "UBERON:0002428", + "UPHENO:0004459", + "GO:0098771", + "UPHENO:0077821", + "CHEBI:36357", + "GO:0050801", + "HP:0000083", + "GO:0032501", + "UBERON:0003823", + "HP:0001995", + "UBERON:0000065", + "HP:0032180", + "CHEBI:26082", + "UPHENO:0049904", + "UPHENO:0066739", + "GO:0048878", + "UPHENO:0051763", + "UPHENO:0080362", + "UPHENO:0051937", + "HP:0004912", + "HP:0001941", + "UPHENO:0051804", + "CHEBI:33675", + "UBERON:0002193", + "UPHENO:0051960", + "UPHENO:0034351", + "UPHENO:0084654", + "HP:0001939", + "CHEBI:33241", + "UPHENO:0049628", + "CHEBI:33238", + "HP:0040156", + "HP:0002857", + "UBERON:0000463", + "CHEBI:26020", + "UBERON:0006314", + "CHEBI:33839", + "CHEBI:26079", + "UBERON:0000982", + "UPHENO:0034217", + "HP:0003111", + "CHEBI:24431", + "UPHENO:0079873", + "HP:0002206", + "UPHENO:0076740", + "UPHENO:0076294", + "HP:0001942", + "HP:0004348", + "UPHENO:0084653", + "HP:0003330", + "HP:0004918", + "UPHENO:0081547", + "HP:0012337", + "UBERON:0000170", + "UPHENO:0068089", + "UPHENO:0076289", + "CHEBI:72695", + "UPHENO:0068064", + "UBERON:0000483", + "UBERON:0002471", + "HP:0002979", + "UPHENO:0082543", + ], + "has_phenotype_closure_label": [ "Neoplasm", - "abnormal bone marrow cell", - "system process", - "Abnormal granulocyte morphology", - "protein-containing material entity", - "biological_process", - "subdivision of skeleton", - "circulatory system", - "sense organ", - "subdivision of skeletal system", - "male gamete", - "ectoderm-derived structure", - "telencephalon", - "manual digit 1 plus metapodial segment", - "Duplication of bones involving the upper extremities", - "abnormal postcranial axial skeleton morphology", - "eyeball of camera-type eye", - "changed biological_process rate in independent continuant", - "Thrombocytopenia", - "abnormal craniocervical region morphology", - "All", - "organism substance", - "Aplasia/Hypoplasia involving the central nervous system", - "protein-DNA complex organization", - "organ", - "programmed DNA elimination by chromosome breakage", - "abnormal bone marrow morphology", - "organism subdivision", - "abnormal gamete", - "Abnormal nervous system physiology", - "thoracic cavity element", - "Abnormality of the kidney", + "Neoplasm of the respiratory system", + "Abnormality of the vasculature", + "cardiovascular system", + "blood vasculature", + "disconnected anatomical group", + "abnormal cardiovascular system", + "Hypertension", + "Abnormal systemic blood pressure", + "abnormal vasculature", + "Chronic kidney disease", + "Renal insufficiency", + "non-functional kidney", + "excretory tube", "cavitated compound organ", - "Abnormality of the musculoskeletal system", - "abnormal size of skull", - "abnormal limb", - "trunk region element", - "pectoral complex", - "abnormal hematopoietic system", - "Anemic pallor", - "absent anatomical entity in the renal system", - "abdomen", - "acropodial skeleton", + "Abnormal renal morphology", + "abdomen element", + "tissue", + "anatomical cluster", + "abnormal kidney epithelium morphology", + "Abnormality of the kidney", + "renal tubule", + "uriniferous tubule", + "nephron epithelium", + "Abnormal renal insterstitial morphology", "abnormal kidney", - "nervous system process", - "body proper", - "forelimb zeugopod", - "Abnormal nervous system morphology", - "genitourinary system", - "abnormality of anatomical entity mass", - "abnormal cell", - "bone element", - "abnormal nervous system morphology", - "abnormal cardiovascular system morphology", - "Abnormal eye morphology", - "Abnormality of head or neck", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/hypoplasia involving bones of the extremities", - "skeleton of manual digitopodium", - "axial skeletal system", - "abnormality of nervous system physiology", - "abnormal axial skeleton plus cranial skeleton morphology", + "abdominal segment of trunk", + "abdomen", + "Abnormality of the upper urinary tract", + "Abnormal nephron morphology", + "Increased blood pressure", + "Tubulointerstitial fibrosis", + "increased level of carboxylic acid in independent continuant", + "carboxylic acid", + "molecule", + "increased level of amino acid in urine", + "hydroxides", + "organic molecule", + "carbon oxoacid", + "carbonyl compound", + "abnormal independent continuant amino acid level", + "abnormal amino acid level", + "Abnormal urine pH", + "abnormal urine amino acid level", + "Abnormal renal tubule morphology", + "nephron tubule", + "hydrogen molecular entity", + "abnormal nephron tubule morphology", + "increased level of organic acid in urine", + "increased level of carboxylic acid in urine", + "amino acid", + "s-block molecular entity", + "oxoacid", + "increased level of organic acid in independent continuant", + "increased level of glucose in independent continuant", + "abnormal metabolite independent continuant level", + "carbohydrates and carbohydrate derivatives", + "Lung adenocarcinoma", + "increased level of monosaccharide in urine", + "Abnormal urinary organic compound level", + "glucose", + "aldose", + "hexose", + "abnormal urine glucose level", + "increased level of monosaccharide in independent continuant", + "abnormal independent continuant carbohydrate level", + "monosaccharide", + "Abnormal urine metabolite level", + "Abnormality of the cardiovascular system", + "Abnormality of the genitourinary system", + "carboxamide", + "organic amino compound", + "macromolecule", "abnormal genitourinary system", - "Abnormality of the upper urinary tract", - "enucleated reticulocyte", - "forelimb zeugopod bone", - "quality", - "aplasia or hypoplasia of anatomical entity", - "regulation of biological process", - "Abnormal thumb morphology", - "oxygen accumulating cell", - "Abnormal localization of kidney", - "subdivision of trunk", - "abdomen element", - "autopod region", - "compound organ", - "Abnormal renal collecting system morphology", - "male germ cell", - "limb", - "lateral structure", - "Cryptorchidism", - "non-connected functional system", - "abnormal leukocyte morphology", - "abnormally localised anatomical entity", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "phenotype", - "abnormal renal system", - "postcranial axial skeleton", - "abnormally localised kidney", - "absent digit", - "Abnormality of blood and blood-forming tissues", - "anatomical structure", + "abnormal independent continuant protein polypeptide chain level", + "Aciduria", "Abnormality of the urinary system", - "Decreased anatomical entity mass", - "Abnormality of skin morphology", - "multicellular organismal process", - "Abnormal myeloid cell morphology", - "increased pigmentation in independent continuant", - "manual digitopodium bone", - "abnormal skeletal system morphology", - "absent sperm in the independent continuant", - "internal male genitalia", - "occurrent", - "Metazoa", - "Cognitive impairment", - "abnormal nervous system", - "abnormal cellular component organization", - "appendicular skeletal system", - "Abnormality of the nervous system", - "abnormal cellular metabolic process", - "acropodium region", - "pectoral appendage skeleton", - "nucleate cell", - "Abnormality of the orbital region", - "Abnormal cellular phenotype", - "entity", - "abnormal number of anatomical enitites of type hematopoietic cell", - "pigmentation", - "myeloid leukocyte", - "germ cell", - "abnormal spermatogenesis", - "segment of manus", + "oxygen molecular entity", + "abnormal independent continuant nitrogen molecular entity level", + "abnormal renal system", + "heteroorganic entity", + "organooxygen compound", + "abnormal role urine level", + "vascular system", + "increased level of chemical entity in urine", + "increased level of protein polypeptide chain in independent continuant", + "upper urinary tract", + "Abnormal tubulointerstitial morphology", + "Abnormality of urine homeostasis", + "organic molecular entity", + "urine", + "Abnormality of the urinary system physiology", + "Abnormal urine protein level", + "organic oxo compound", + "excreta", + "increased independent continuant base level", + "renal system", + "genitourinary system", + "abnormal shape of continuant", + "nitrogen molecular entity", + "abnormal limb morphology", + "abnormal anatomical entity, curved", "abnormal anatomical entity morphology in the independent continuant", - "abnormal neutrophil", - "abnormal blood cell", - "Functional abnormality of male internal genitalia", - "increased biological_process in independent continuant", - "abnormally decreased number of cell in the independent continuant", - "abnormally decreased number of cell", - "cranial skeletal system", - "Hematological neoplasm", - "Aplasia/Hypoplasia of fingers", - "radius endochondral element", - "abnormal immune system morphology", - "leukocyte", + "zone of bone organ", + "appendicular skeleton", + "pelvic complex", + "curvature anatomical entity in independent continuant", + "Abnormality of limbs", + "Abnormality of limb bone morphology", + "nephron", + "curved long bone", + "occurrent", + "organ", + "Stage 5 chronic kidney disease", "mesoderm-derived structure", - "abnormal upper urinary tract", - "specifically dependent continuant", - "increased qualitatively biological_process", - "abnormal anatomical entity length", - "abnormal number of anatomical enitites of type cell", - "abnormal digit", - "abnormal number of anatomical enitites of type neutrophil", - "abnormality of anatomical entity physiology", - "Puberty and gonadal disorders", - "Abnormal immune system morphology", - "abnormal nitrogen compound metabolic process", - "abnormal immune system", - "abnormally decreased number of myeloid cell", - "Abnormality of blood circulation", - "excretory system", - "skeleton of limb", - "nervous system", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "protein-containing complex organization", - "abnormal granulocyte morphology", - "Decreased head circumference", - "hematopoietic cell", - "regulation of macromolecule metabolic process", - "continuant", - "aplastic manual digit 1", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal myeloid leukocyte morphology", - "abnormal manual digit morphology in the manus", - "Ectopic kidney", - "hemolymphoid system", - "Abnormal heart morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Renal hypoplasia/aplasia", - "abnormal manus morphology", - "cell", + "zone of long bone", + "Hyperchloremic metabolic acidosis", + "Emphysema", + "skeletal system", + "blood", + "long bone", + "phosphate ion homeostasis", + "abdominal segment element", + "Glycosuria", + "Abnormal bone ossification", + "organism subdivision", + "respiratory tract", + "Abnormal respiratory system physiology", + "homeostatic process", + "organochalcogen compound", + "Abnormal homeostasis", + "lower limb segment", + "abnormal skeletal joint morphology", + "abnormal independent continuant glucose level", + "abnormal hindlimb zeugopod, curved", + "abnormal anatomical entity morphology in the pelvic complex", "phenotype by ontology source", - "integument", - "metabolic process", - "abnormal phalanx morphology", - "myeloid cell", - "Neutropenia", + "amide", + "Abnormality of limb bone", + "anatomical entity", + "material entity", + "Abnormal appendicular skeleton morphology", + "Aminoaciduria", + "organ system subdivision", + "increased level of nitrogen molecular entity in independent continuant", + "abnormal diaphysis morphology in the independent continuant", + "Proteinuria", + "abnormal skeletal system morphology", + "protein-containing material entity", + "hindlimb", + "epithelium", + "system", + "subdivision of tube", + "abnormal anatomical entity", + "increased level of protein polypeptide chain in urine", + "limb segment", + "Abnormal joint morphology", + "increased level of amino acid in independent continuant", + "thoracic segment of trunk", + "abnormal anatomical entity morphology in the appendage girdle complex", + "bone of appendage girdle complex", + "Non-small cell lung carcinoma", + "skeletal joint", + "abnormal limb bone morphology", + "aldohexose", + "zone of organ", + "abnormal long bone morphology", + "organonitrogen compound", + "appendage", + "tube", + "Abnormality of acid-base homeostasis", + "organ part", + "abnormal blood phosphate level", + "multicellular organismal process", + "limb skeleton subdivision", + "paired limb/fin segment", + "Abnormality of the knee", + "abnormal lung morphology", + "subdivision of organism along appendicular axis", "abnormal skeletal system", - "disconnected anatomical group", - "abnormal number of anatomical enitites of type granulocyte", - "changed developmental process rate", - "neutrophil", - "abnormal cellular response to stress", + "Abnormality of the lower limb", + "curved anatomical entity in independent continuant", + "abnormal appendicular skeleton morphology", + "abnormal phenotype by ontology source", + "subdivision of trunk", + "abnormal renal system morphology", + "abnormal hindlimb joint", + "All", + "anatomical collection", + "vessel", + "diaphysis", + "abnormal leg", + "non-functional anatomical entity", + "thoracic segment organ", + "subdivision of skeleton", + "endochondral bone", + "articular system", + "Hypophosphatemia", + "leg", + "monoatomic ion", + "chemical homeostasis", + "Genu valgum", + "limb joint", + "limb bone", + "shape anatomical entity in independent continuant", + "phenotype", + "abnormal upper urinary tract", + "curvature anatomical entity", + "musculoskeletal system", + "material anatomical entity", + "abnormal knee morphology", + "Abnormal respiratory system morphology", + "shape anatomical entity", + "skeleton of limb", + "Abnormal pulmonary interstitial morphology", + "vasculature", + "Abnormal long bone morphology", + "hindlimb zeugopod", + "Abnormal urine carboxylic acid level", + "decreased level of chemical entity", + "abnormal phosphate level", + "subdivision of skeletal system", + "entity", + "curved hindlimb zeugopod", + "kidney", + "articulation", + "blood vessel", + "multi-limb segment region", + "abnormal diaphysis morphology", + "lateral structure", + "anatomical structure", + "Bowing of the long bones", + "anatomical conduit", + "polypeptide", + "abnormal limb", + "Abnormality of bone mineral density", + "endochondral element", + "hindlimb joint", + "trunk", + "oxoacid derivative", + "Abnormality of the calf", + "Hyperchloremic acidosis", + "Abnormal bone structure", + "Abnormal renal physiology", + "chalcogen molecular entity", + "abnormal knee", + "abnormal anatomical entity mass density", + "decreased level of chemical entity in blood", + "shape hindlimb zeugopod", + "Phenotypic abnormality", + "Elevated urinary carboxylic acid", + "skeleton", + "Neoplasm by anatomical site", + "p-block molecular entity", + "abnormality of cardiovascular system physiology", + "limb", + "curved anatomical entity", + "paired limb/fin", + "bone element", + "Renal fibrosis", + "abnormal hindlimb morphology", "independent continuant", - "abnormal hematopoietic system morphology", - "Aplasia/hypoplasia involving the skeleton", - "Abnormal granulocyte count", - "abnormal hematopoietic cell morphology", - "abnormal limb morphology", - "brain", - "Abnormal external genitalia", - "Abnormal leukocyte count", - "Pallor", - "Renal agenesis", - "Growth abnormality", - "abnormal renal system morphology", - "abnormal brain morphology", - "aplasia or hypoplasia of telencephalon", + "multicellular anatomical structure", + "posterior region of body", + "Metabolic acidosis", + "zeugopod", + "skeletal element", + "appendage girdle complex", + "abnormal hindlimb zeugopod morphology", + "limb endochondral element", + "bone of free limb or fin", + "increased level of organic molecular entity in independent continuant", + "abnormal limb bone", + "shape long bone", + "lung fibrosis", + "Organic aciduria", + "Abnormal diaphysis morphology", + "Abnormal DLCO", "abnormal anatomical entity morphology", - "Abnormality of the immune system", - "Abnormality of the skin", - "3-D shape anatomical entity in independent continuant", + "specifically dependent continuant", + "abnormal urine chemical entity level", + "monoatomic ion homeostasis", + "Abnormal knee morphology", + "abnormality of respiratory system physiology", + "polyatomic entity", + "epithelial tube", + "respiratory system", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "Abnormality of the respiratory system", + "abnormal respiratory system", + "abnormality of anatomical entity physiology", + "lower respiratory tract", + "Abnormality of lower limb joint", "anatomical system", - "Abnormality of the endocrine system", + "Abnormal lung morphology", + "haemolymphatic fluid", + "subdivision of organism along main body axis", + "Bowing of the legs", + "Abnormality of the skeletal system", + "abnormal independent continuant phosphate level", + "lung", "abnormal kidney morphology", - "immaterial anatomical entity", - "Abnormal bleeding", - "blood circulation", - "endochondral element", - "Abnormality of neutrophils", - "structure with developmental contribution from neural crest", - "renal collecting system", - "Abnormality of skin pigmentation", - "abnormally decreased number of granulocyte in the independent continuant", - "simple eye", - "abnormally decreased number of anatomical entity in the independent continuant", - "axial skeleton plus cranial skeleton", - "Abnormal skeletal morphology", - "limb endochondral element", - "anatomical entity", - "abnormality of multicellular organism mass", - "eukaryotic cell", - "appendage", - "U-shaped kidney", - "material anatomical entity", - "abnormal blood cell morphology", - "material entity", - "limb long bone", - "abnormally decreased number of myeloid cell in the independent continuant", - "kinesthetic behavior", - "abnormal number of anatomical enitites of type myeloid cell", + "main body axis", + "organic acid", + "abnormal hindlimb zeugopod", + "ossification", + "Abnormal circulating metabolite concentration", + "pelvic appendage", + "endoderm-derived structure", + "pair of lungs", + "abnormal respiratory system morphology", + "viscus", + "increased level of glucose in urine", + "Decreased DLCO", + "body proper", + "trunk region element", + "knee", + "Hypophosphatemic rickets", + "respiratory airway", "multicellular organism", - "kidney", - "Reticulocytopenia", - "Opisthokonta", - "Abnormal myeloid leukocyte morphology", - "abnormal phenotype by ontology source", - "abnormal location of anatomical entity", - "abnormal myeloid cell morphology", - "cognition", - "manus", - "male organism", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal forebrain morphology", - "Abnormal cell morphology", - "abnormally decreased number of leukocyte in the independent continuant", + "hematopoietic system", + "thoracic cavity element", + "abnormal monoatomic ion homeostasis", + "anatomical entity fibrosis", + "Abnormality of metabolism/homeostasis", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "abnormal nephron morphology", + "Rickets", + "multi organ part structure", + "hemolymphoid system", + "abnormal bone element mass density", + "appendicular skeletal system", + "abnormal chemical entity level", + "process", + "carbohydrate", + "biological_process", + "increased bodily fluid role level", + "abnormal role independent continuant level", + "inorganic ion homeostasis", + "Reduced bone mineral density", + "abnormal chemical homeostasis", + "pnictogen molecular entity", + "Abnormality of the musculoskeletal system", + "abnormal phosphate ion homeostasis", + "metabolic process", + "bodily fluid", + "abnormal blood monoatomic ion level", + "respiration organ", + "increased bodily fluid acid level", + "abnormal blood chemical entity level", + "monoatomic entity", + "abnormal acid independent continuant level", + "organism substance", + "kidney epithelium", + "phosphorus oxoacids and derivatives", + "compound organ", + "Abnormal blood phosphate concentration", + "abnormal independent continuant chemical entity level", + "Pulmonary fibrosis", + "carbon group molecular entity", + "primary amide", + "elemental molecular entity", + "phosphorus oxoacid derivative", + "decreased level of phosphate in blood", + "ion", + "Abnormality on pulmonary function testing", + "proximo-distal subdivision of respiratory tract", + "abnormal homeostatic process", + "abnormal role bodily fluid level", + "abnormal biological_process", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "Neoplasm of the lung", + "abnormality of renal system physiology", + "quality", + "phosphoric acid derivative", + "phosphorus molecular entity", + "decreased level of chemical entity in independent continuant", + "Abnormal cardiovascular system physiology", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "paired limb/fin skeleton", + "heteroatomic molecular entity", + "chemical entity", + "increased independent continuant acid level", + "phosphate", + "abnormal multicellular organism chemical entity level", + "abnormality of kidney physiology", + "main group molecular entity", + "Decreased bone element mass density", + "abnormal acid bodily fluid level", + "Acidosis", + "increased level of chemical entity in independent continuant", + "increased level of chemical entity in bodily fluid", + "increased level of chemical entity", + "increased independent continuant role level", + "peptide", + "continuant", + "protein polypeptide chain", + "circulatory system", + "abnormal independent continuant monoatomic ion level", + "excretory system", ], }, + { + "id": "HP:0001994", + "category": "biolink:PhenotypicFeature", + "name": "Renal Fanconi syndrome", + "xref": ["MSH:D005198", "SNOMEDCT_US:236468006", "SNOMEDCT_US:44673006", "UMLS:C0341703"], + "provided_by": "phenio_nodes", + "description": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.", + "synonym": ["De toni-fanconi-debre syndrome", "Renal tubular fanconi syndrome"], + "namespace": "HP", + "has_phenotype_count": 0, + }, { "id": "MONDO:0014638", "category": "biolink:Disease", @@ -11231,7337 +8384,10499 @@ def search_response(): "Anemia", "Chromosomal breakage induced by crosslinking agents", "Short stature", - "Hearing impairment", - "Facial palsy", - ], - "has_phenotype_count": 11, - "has_phenotype_closure": [ - "UPHENO:0078730", - "UBERON:0001444", - "UPHENO:0076702", - "HP:0010827", - "UBERON:0004461", - "UBERON:0001647", + "Hearing impairment", + "Facial palsy", + ], + "has_phenotype_count": 11, + "has_phenotype_closure": [ + "UPHENO:0080556", "UBERON:0034713", - "HP:0000301", + "UPHENO:0076702", + "HP:0001324", + "UPHENO:0076772", + "UBERON:0001021", + "UBERON:0005162", + "HP:0012638", + "HP:0011799", + "UBERON:0004473", + "UPHENO:0076710", + "HP:0001291", + "UPHENO:0086589", + "UBERON:0002376", + "UBERON:0001577", + "UBERON:0000010", + "UPHENO:0076722", + "UPHENO:0004523", "UPHENO:0081709", + "UPHENO:0003587", + "HP:0410008", "UPHENO:0002910", "UPHENO:0087907", - "UBERON:0001033", - "UBERON:0000383", "UPHENO:0080555", - "HP:0000759", - "HP:0031910", - "UPHENO:0002320", - "HP:0011805", "UBERON:0000122", - "HP:0012638", - "HP:0012639", - "UPHENO:0076722", - "HP:0001291", - "UBERON:0013700", - "UBERON:0015789", - "UBERON:0002376", "UPHENO:0002908", - "HP:0006824", - "HP:0000707", - "HP:0003011", - "UBERON:0001456", - "UPHENO:0004508", - "UBERON:0012354", - "HP:0011804", - "UBERON:0002470", - "UPHENO:0049587", - "UBERON:0005090", - "HP:0410008", - "UPHENO:0085302", - "UBERON:0010314", - "HP:0000364", - "UPHENO:0063722", - "UBERON:0001690", - "HP:0000234", - "HP:0000152", - "UBERON:0000020", + "UPHENO:0002816", + "UBERON:0015789", + "UBERON:0001785", + "UBERON:0000383", + "UBERON:0014892", + "UPHENO:0078730", "GO:0050954", - "UBERON:0004456", "UPHENO:0002764", - "GO:0003008", - "UBERON:0001032", + "UBERON:0000020", + "UBERON:0007811", "GO:0007600", - "UPHENO:0050625", - "HP:0001871", + "UBERON:0000033", + "UBERON:0001016", + "UPHENO:0080377", + "UBERON:0004456", + "UBERON:0001032", + "GO:0050877", + "HP:0000234", + "HP:0000152", + "HP:0011804", + "GO:0032501", + "UPHENO:0050620", + "UPHENO:0005518", + "UPHENO:0052970", + "UBERON:0002105", + "UPHENO:0002332", + "UPHENO:0000543", + "HP:0000759", + "UPHENO:0049874", "HP:0001507", + "HP:0000002", + "UPHENO:0069254", + "UBERON:0001456", + "UPHENO:0000541", + "UPHENO:0080351", "HP:0001510", - "HP:0001909", - "UBERON:0010712", - "UPHENO:0081423", - "HP:0001872", - "GO:0031327", - "UPHENO:0084766", - "UBERON:0011676", - "GO:0050794", - "UBERON:0002105", - "UPHENO:0002433", - "HP:0030319", - "GO:0043170", - "GO:0007605", - "GO:0046483", - "GO:0034641", - "HP:0040012", - "UPHENO:0049990", - "UPHENO:0049873", - "GO:0031049", - "UPHENO:0049748", - "UPHENO:0049700", - "GO:0010558", - "BFO:0000004", - "HP:0003221", - "UBERON:0013702", - "GO:0031052", - "UBERON:0001785", - "GO:0044237", - "GO:0071840", - "UBERON:0002495", - "UPHENO:0080377", - "UPHENO:0050845", - "HP:0011017", - "HP:0001876", - "UPHENO:0003587", - "UPHENO:0050121", - "GO:0010556", "GO:0031326", - "GO:0006259", - "GO:0071824", - "HP:0000598", - "GO:0060255", - "UBERON:0010543", - "GO:0065007", - "UBERON:0011249", - "GO:0031323", - "GO:0009892", - "GO:0048523", - "GO:0050789", - "GO:0006807", - "GO:0044238", - "HP:0004322", + "UPHENO:0052231", + "GO:0009890", + "UPHENO:0002320", + 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"UPHENO:0076703", - "HP:0000001", - "GO:0043933", - "CL:0000738", - "UBERON:0000061", - "UBERON:0002204", - "UBERON:0013701", - "HP:0010987", - "GO:0006139", - "UPHENO:0050113", - "UPHENO:0001001", + "UBERON:0002529", + "UPHENO:0046707", + "UPHENO:0012541", + "UBERON:0012139", + "UPHENO:0086700", + "UBERON:0012357", + "UPHENO:0079876", + "UPHENO:0076740", + "GO:0044237", + "UBERON:0010363", + "UPHENO:0046624", + "UPHENO:0076723", + "HP:0040068", + "UPHENO:0075159", "UPHENO:0002880", - "UBERON:0000467", - "UPHENO:0005518", - "UBERON:0000468", - "HP:0011793", - "UPHENO:0052231", - "HP:0040064", - "UBERON:0002405", - "UBERON:0001062", - "HP:0001172", - "UBERON:0004288", - "HP:0002715", - "UPHENO:0085070", - "UPHENO:0076710", - "GO:0010468", - "UPHENO:0002830", + "HP:0001903", + "UBERON:0034925", + "UBERON:0004708", + "UBERON:5002544", + "CL:0000738", + "UBERON:0005881", + "UBERON:0010758", + "UPHENO:0079872", + "UPHENO:0046505", + "UPHENO:0075195", + "UPHENO:0084448", + "UBERON:0004710", + "UPHENO:0011498", + "UBERON:0004249", + "UBERON:0002389", + "UBERON:0001033", + "UBERON:0001690", + "UBERON:0010740", + "HP:0005528", + "UBERON:0010688", + "UBERON:5106048", + "UBERON:0004461", + "UBERON:0015021", + "UBERON:0018254", + "UPHENO:0086956", "BFO:0000003", - "UBERON:0010000", - "UPHENO:0080351", - "UBERON:0012358", + "HP:0009942", + "HP:0031910", + "UBERON:5101463", + "UBERON:0011676", + "HP:0009997", + "UBERON:0015023", + "UBERON:0004381", + "UBERON:0008962", + "UPHENO:0085189", + "UBERON:5102544", + "UPHENO:0046411", + "UBERON:0001436", + "UPHENO:0081700", + "UBERON:0015025", + "UBERON:0011216", + "UBERON:0012150", + "UPHENO:0081424", "UBERON:0010741", - "CL:0000255", ], "has_phenotype_closure_label": [ - "abnormal nerve", - "Abnormality of the peripheral nervous system", - "skeletal muscle organ, vertebrate", - "Abnormal nervous system morphology", - "abnormality of nervous system physiology", - "Abnormal peripheral nerve morphology by anatomical site", - "face", - "cranial or facial muscle", - "Abnormal nervous system physiology", - "Abnormality of facial musculature", - "paralysed cranial nerve", + "skeletal musculature", "Abnormality of facial soft tissue", - "subdivision of head", - "gustatory system", - "nervous system", - "abnormal facial muscle", - "axial musculature", - "craniocervical region musculature", "abnormal muscle organ morphology", - "Abnormal skeletal muscle morphology", - "abnormal musculature", - "neuron projection bundle", - "facial muscle", - "Abnormality of the musculature", - "facial nerve", "cranial neuron projection bundle", + "Abnormality of the nervous system", + "decreased muscle organ strength", + "nerve", + "musculature of body", + "neuron projection bundle", + "Abnormal peripheral nervous system morphology", + "Weakness of facial musculature", + "Muscle weakness", + "abnormal peripheral nervous system morphology", + "abnormal nerve", "decreased anatomical entity strength", - "Abnormal muscle physiology", + "facial muscle", + "cranial muscle", + "abnormal head morphology", + "subdivision of head", + "Abnormality of the seventh cranial nerve", + "Cranial nerve paralysis", + "Abnormal cranial nerve morphology", + "abnormal craniocervical region morphology", "abnormal facial nerve", - "obsolete cell", - "peripheral nervous system", - "musculature", - "abnormality of muscle organ physiology", + "gustatory system", + "nervous system", + "nerve of head region", "multi cell part structure", - "decreased muscle organ strength", - "abnormal face", - "head", - "abnormal organelle organization", - "abnormal head morphology", - "forelimb endochondral element", - "vestibulo-auditory system", - "craniocervical region", - "biological_process", - "protein-containing material entity", - "subdivision of skeleton", - "abnormal cranial nerve morphology", - "decreased qualitatively sensory perception of sound", + "Abnormal skeletal muscle morphology", + "cranial or facial muscle", + "skeletal muscle organ, vertebrate", + "paralysed cranial nerve", + "abnormal nervous system", + "abnormal musculature", + "Abnormal cranial nerve physiology", "decreased qualitatively sensory perception of mechanical stimulus", - "Abnormal ear physiology", - "nervous system process", + "sensory perception of mechanical stimulus", + "sensory perception", + "decreased sensory perception of sound", + "Abnormality of the ear", + "Hearing abnormality", + "sensory system", + "abnormality of anatomical entity physiology", + "Abnormality of head or neck", + "abnormal peripheral nervous system", "body proper", - "Weakness of facial musculature", - "main body axis", - "Facial palsy", - "entire sense organ system", - "abnormal metabolic process", + "ear", "changed biological_process rate", - "abnormal ear", - "muscle organ", "abnormality of ear physiology", - "abnormality of anatomical entity physiology", - "Hearing abnormality", - "abnormal sensory perception of sound", - "Abnormality of head or neck", - "paralysed anatomical entity", - "abnormal size of multicellular organism", + "musculature", + "Hearing impairment", + "main body axis", + "subdivision of organism along main body axis", + "nervous system process", + "Abnormality of the head", "growth", + "delayed biological_process", + "Abnormality of the face", + "decreased height of the anatomical entity", + "Growth delay", "decreased size of the multicellular organism", - "delayed growth", "Abnormality of body height", + "delayed growth", "decreased height of the multicellular organism", + "system process", + "abnormality of multicellular organism height", + "abnormal primary metabolic process", + "Abnormality of metabolism/homeostasis", + "negative regulation of biosynthetic process", + "regulation of macromolecule biosynthetic process", + "DNA metabolic process", + "protein-DNA complex organization", + "regulation of cellular biosynthetic process", + "biological regulation", + "abnormal organelle organization", + "programmed DNA elimination", + "regulation of macromolecule metabolic process", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "nucleic acid metabolic process", + "protein-containing complex organization", + "regulation of biological process", + "obsolete nitrogen compound metabolic process", + "cellular component organization or biogenesis", + "Abnormality of the peripheral nervous system", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "Abnormal muscle physiology", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "abnormal biological_process", + "Abnormality of chromosome stability", + "abnormality of nervous system physiology", + "organic substance metabolic process", + "Abnormal cellular physiology", + "Chromosomal breakage induced by crosslinking agents", + "metabolic process", + "abnormal cellular process", + "regulation of cellular process", + "negative regulation of biological process", + "nucleobase-containing compound metabolic process", + "abnormal facial muscle", + "multicellular organismal process", + "obsolete cellular aromatic compound metabolic process", + "organelle organization", + "obsolete cellular nitrogen compound metabolic process", + "cellular component organization", + "face", + "Growth abnormality", + "programmed DNA elimination by chromosome breakage", + "regulation of gene expression", + "negative regulation of cellular biosynthetic process", + "chromatin organization", + "biological_process", + "Chromosome breakage", + "abnormal chromatin organization", + "abnormal erythroid lineage cell morphology", + "Abnormal erythrocyte morphology", + "abnormal erythrocyte morphology", + "anterior region of body", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "abnormal myeloid cell morphology", + "limb bone", + "musculature of face", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal number of anatomical enitites of type anatomical entity", + "craniocervical muscle", + "Abnormality of multiple cell lineages in the bone marrow", + "Abnormal nervous system morphology", + "sense organ", + "abnormal limb bone", + "abnormal skeletal system", + "abnormal phalanx of manus morphology", + "occurrent", + "organ", + "obsolete heterocycle metabolic process", + "erythroid lineage cell", + "forelimb endochondral element", + "multicellular anatomical structure", + "cellular process", + "Abnormal digit morphology", + "Abnormal nervous system physiology", + "abnormal hematopoietic system morphology", + "tissue", + "entire sense organ system", + "continuant", + "manual digitopodium region", + "abnormal anatomical entity morphology in the manus", + "facial nerve", + "Abnormality of the skeletal system", + "decreased size of the anatomical entity", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormal platelet morphology", + "abnormal sensory perception of sound", + "Abnormal platelet count", + "muscle structure", + "material anatomical entity", + "abnormal number of anatomical enitites of type platelet", + "limb endochondral element", + "Abnormal leukocyte count", + "autopod region", + "skeleton", + "manual digit bone", + "negative regulation of cellular metabolic process", + "abnormal bone marrow cell morphology", + "decreased length of anatomical entity", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "decreased length of anatomical entity in independent continuant", + "eukaryotic cell", + "skeleton of pectoral complex", + "Pancytopenia", + "bone marrow", + "acropodium region", + "Abnormal cellular immune system morphology", + "myeloid cell", + "immune system", + "abnormal nervous system morphology", + "abnormal cell morphology", "abnormal DNA metabolic process", - "forelimb", - "abnormal chromatin organization", - "Abnormality of metabolism/homeostasis", - "Leukemia", - "Chromosomal breakage induced by crosslinking agents", - "multicellular organismal process", - "abnormal bone marrow cell morphology", - "manual digit phalanx endochondral element", - "regulation of macromolecule biosynthetic process", - "Abnormality of chromosome stability", - "Abnormal thumb morphology", - "regulation of biological process", - "decreased sensory perception of sound", - "organic substance metabolic process", - "decreased height of the anatomical entity", + "abnormal manual digit morphology in the manus", + "blood cell", + "paired limb/fin segment", + "abnormal cranial nerve morphology", + "cellular metabolic process", + "biogenic amine secreting cell", + "abnormal blood cell morphology", + "negative regulation of gene expression", + "Phenotypic abnormality", + "Abnormality of bone marrow cell morphology", + "abnormal limb bone morphology", + "serotonin secreting cell", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "abnormality of cranial nerve physiology", + "abnormal appendicular skeleton morphology", + "abnormal platelet", + "structure with developmental contribution from neural crest", + "long bone", + "Duplication of bones involving the upper extremities", + "non-connected functional system", "Abnormal leukocyte morphology", - "abnormal programmed DNA elimination by chromosome breakage", - "acropodium region", - "abnormal cellular metabolic process", - "regulation of cellular process", - "negative regulation of biological process", + "Abnormal upper limb bone morphology", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "Abnormal platelet morphology", + "decreased biological_process", + "Short stature", + "Aplasia/hypoplasia of the extremities", + "aplasia or hypoplasia of manual digit", + "digit 1", + "skeletal system", + "motile cell", + "Abnormal peripheral nerve morphology by anatomical site", + "Abnormality of facial musculature", + "abnormal growth", + "abnormal leukocyte morphology", + "independent continuant", "organic cyclic compound metabolic process", - "obsolete heterocycle metabolic process", - "obsolete cellular aromatic compound metabolic process", - "cellular component organization", - "continuant", - "regulation of macromolecule metabolic process", - "nucleobase-containing compound metabolic process", - "negative regulation of metabolic process", - "protein-containing complex organization", + "manual digitopodium bone", + "segment of autopod", + "Abnormal cellular phenotype", + "skeleton of manus", + "Short finger", + "craniocervical region musculature", + "Abnormality of blood and blood-forming tissues", + "abnormal hematopoietic cell morphology", "regulation of biosynthetic process", - "abnormal cellular process", - "regulation of gene expression", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", + "acropodial skeleton", + "abnormal anatomical entity morphology in the independent continuant", + "limb segment", + "oxygen accumulating cell", + "abnormal forelimb morphology", + "material entity", + "Abnormal erythroid lineage cell morphology", + "leukocyte", + "craniocervical region", + "abnormal long bone morphology", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "manual digit 1 digitopodial skeleton", + "hemolymphoid system", + "Abnormal immune system morphology", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of anatomical entity", + "disconnected anatomical group", + "bone cell", + "Aplasia/Hypoplasia of the thumb", + "abnormal hematopoietic system", + "manual digit 1 plus metapodial segment", + "Neoplasm", + "manual digit 1 or 5", + "abnormally decreased number of platelet", + "phalanx", + "erythrocyte", + "abnormal blood cell", "manual digit 1 phalanx", - "sensory system", - "chromatin organization", - "appendicular skeletal system", - "abnormal cellular component organization", - "biological regulation", "organ system subdivision", - "process", - "regulation of cellular biosynthetic process", - "Abnormality of the ear", - "negative regulation of biosynthetic process", - "abnormal phalanx of manus morphology", - "sensory perception of sound", - "negative regulation of macromolecule metabolic process", - "negative regulation of cellular metabolic process", - "DNA metabolic process", - "Abnormal cranial nerve physiology", - "organ", - "protein-DNA complex organization", + "abnormal phenotype by ontology source", + "abnormal size of multicellular organism", + "bone element", + "platelet", + "vestibulo-auditory system", + "hematopoietic cell", + "skeletal element", + "Bone marrow hypocellularity", "Anemia", - "nucleic acid metabolic process", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "Duplication of thumb phalanx", - "individual digit of digitopodial skeleton", - "digit 1 digitopodial skeleton", - "abnormality of anatomical entity height", - "skeleton of manual acropodium", - "acropodial skeleton", - "decreased length of anatomical entity in independent continuant", - "phalanx of manus", - "autopod bone", - "autopod endochondral element", - "skeleton of pectoral complex", - "skeleton of digitopodium", - "structure with developmental contribution from neural crest", - "Abnormal long bone morphology", - "programmed DNA elimination", - "abnormal skeletal system morphology", - "manual digitopodium bone", - "Duplication of hand bones", + "abnormal bone marrow cell", + "Acute leukemia", + "abnormal immune system", + "abnormal anatomical entity", + "abnormally decreased number of cell", + "muscle organ", + "abnormal anatomical entity length", + "abnormal cell", "macromolecule metabolic process", - "bone of pectoral complex", - "abnormal bone of pectoral complex morphology", - "nerve", - "limb long bone", - "limb skeleton subdivision", - "phalanx endochondral element", - "decreased length of anatomical entity", - "sensory perception", - "manual digit 1 digitopodial skeleton", - "long bone", - "myeloid cell", - "abnormal phalanx morphology", - "subdivision of organism along appendicular axis", + "appendage girdle complex", + "anatomical entity", + "Aplasia/hypoplasia involving the skeleton", + "musculoskeletal system", + "Abnormal cell morphology", + "phenotype", + "Abnormality of the immune system", + "Thrombocytopenia", + "abnormal digit morphology", "abnormal anatomical entity morphology in the skeleton of manus", - "autopodial skeleton", - "Abnormality of thumb phalanx", + "Neoplasm by anatomical site", + "decreased length of manual digit 1", + "quality", + "phenotype by ontology source", + "anucleate cell", + "manus bone", + "Abnormality of the hand", + "Hematological neoplasm", + "manual digit plus metapodial segment", + "abnormal limb long bone morphology", + "hematopoietic system", + "autopod bone", + "multicellular organism", + "mesoderm-derived structure", + "skeleton of limb", + "nucleate cell", + "Abnormal finger morphology", + "anatomical system", + "anatomical structure", + "abnormally decreased number of myeloid cell", + "Abnormality of the musculoskeletal system", "Abnormal finger phalanx morphology", - "paired limb/fin skeleton", - "motile cell", - "abnormal anatomical entity", - "paired limb/fin", - "serotonin secreting cell", - "decreased biological_process", - "Abnormal appendicular skeleton morphology", - "delayed biological_process", - "abnormal anatomical entity morphology in the manus", - "Abnormality of limbs", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "programmed DNA elimination by chromosome breakage", "abnormal bone marrow morphology", - "organism subdivision", - "cranial nerve", - "pectoral appendage", - "abnormal nervous system", - "lateral structure", - "limb", - "abnormal anatomical entity morphology in the pectoral complex", - "decreased size of the anatomical entity in the pectoral complex", - "cellular process", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "appendage", + "regulation of cellular metabolic process", + "regulation of metabolic process", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "abnormal immune system morphology", "manual digit 1", + "Aplasia/hypoplasia involving bones of the extremities", + "decreased length of digit", + "Short thumb", + "abnormal manual digit 1 morphology", + "digit 1 plus metapodial segment", + "digit", + "endochondral element", + "abnormality of muscle organ physiology", "multi-limb segment region", + "manual digit phalanx endochondral element", + "abnormal sensory perception", + "abnormal manus", + "secretory cell", + "decreased size of the anatomical entity in the independent continuant", + "abnormal anatomical entity morphology in the pectoral complex", + "segment of manus", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal skeletal system morphology", + "protein-containing material entity", + "aplasia or hypoplasia of anatomical entity", + "All", + "anatomical collection", + "paired limb/fin", + "digit plus metapodial segment", + "abnormal face", + "autopodial extension", + "subdivision of organism along appendicular axis", + "paired limb/fin skeleton", + "abnormal ear", + "abnormal autopod region morphology", + "bone of free limb or fin", "abnormal craniocervical region", - "decreased qualitatively biological_process", - "immune system", - "manual digit plus metapodial segment", - "digit 1 plus metapodial segment", - "Abnormality of the seventh cranial nerve", - "platelet", - "obsolete nitrogen compound metabolic process", + "aplasia or hypoplasia of skeleton", + "autopodial skeleton", + "skeleton of digitopodium", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "forelimb", + "Acute myeloid leukemia", + "Short digit", + "lateral structure", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "forelimb skeleton", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormality of anatomical entity height", + "bone of appendage girdle complex", "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "Abnormality of the nervous system", - "Bone marrow hypocellularity", - "Short finger", - "abnormal long bone morphology", - "skeletal musculature of head", - "abnormal digit morphology", - "Phenotypic abnormality", - "cellular component organization or biogenesis", - "Abnormality of the face", - "non-connected functional system", - "abnormal leukocyte morphology", - "abnormal cell morphology", - "limb bone", - "nucleate cell", - "entity", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Abnormal cellular phenotype", + "bone marrow cell", + "system", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Abnormal appendicular skeleton morphology", + "Facial palsy", + "manual digit", + "paralysed anatomical entity", + "phalanx endochondral element", "pectoral appendage skeleton", - "oxygen accumulating cell", - "musculature of face", - "bone of free limb or fin", - "decreased size of the anatomical entity in the independent continuant", + "abnormal manus morphology", + "Abnormality of the musculature", + "abnormal digit", + "head", + "Abnormality of limb bone", + "cranial nerve", + "abnormal phalanx morphology", "abnormal arm", - "Abnormal digit morphology", - "aplasia or hypoplasia of manual digit", - "autopodial extension", - "anterior region of body", - "Abnormal peripheral nervous system morphology", - "quality", - "aplasia or hypoplasia of anatomical entity", - "erythrocyte", - "abnormal limb bone morphology", - "Abnormal platelet count", - "abnormal forelimb morphology", - "abnormal limb bone", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "Abnormality of the upper limb", - "abnormally decreased number of hematopoietic cell", - "paired limb/fin segment", - "Abnormal cell morphology", "manus", - "decreased length of manual digit 1", - "Growth abnormality", - "skeleton of limb", - "segment of autopod", - "abnormal appendicular skeleton morphology", - "musculoskeletal system", - "decreased size of the anatomical entity", - "autopod region", - "Abnormal erythroid lineage cell morphology", - "manual digit 1 or 5", - "abnormal hematopoietic cell morphology", - "abnormal limb morphology", - "Abnormal platelet morphology", - "abnormally decreased number of platelet", - "system", - "subdivision of organism along main body axis", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the hand", - "Aplasia/hypoplasia of the extremities", - "digit 1", - "abnormal head", - "Short thumb", - "bone cell", - "abnormal autopod region morphology", "abnormal limb", - "abnormal sensory perception", - "abnormality of cranial nerve physiology", - "Abnormal hand morphology", - "abnormal manual digit morphology in the independent continuant", - "musculature of body", - "sensory perception of mechanical stimulus", - "Growth delay", - "forelimb skeleton", - "endochondral bone", - "blood cell", - "erythroid lineage cell", - "abnormal size of anatomical entity", - "abnormal biological_process", - "Abnormal cellular physiology", - "abnormal immune system", - "abnormal nitrogen compound metabolic process", - "appendage girdle complex", - "limb segment", - "skeleton", - "manus bone", - "sense organ", + "skeletal musculature of head", + "organism subdivision", + "Leukemia", + "bone of pectoral complex", + "entity", "subdivision of skeletal system", - "abnormal peripheral nervous system morphology", - "bone marrow", - "secretory cell", + "endochondral bone", + "subdivision of skeleton", "arm", - "organelle organization", - "hematopoietic cell", - "Abnormal cranial nerve morphology", - "skeletal musculature", - "decreased length of digit", - "manual digit", - "muscle structure", - "Abnormality of the head", - "Abnormal upper limb bone morphology", - "skeletal element", - "All", + "Abnormal ear physiology", + "sensory perception of sound", + "Abnormal myeloid cell morphology", + "digit 1 or 5", + "decreased qualitatively sensory perception of sound", + "cell", + "limb", + "Abnormality of the upper limb", + "Duplication of thumb phalanx", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "pectoral complex", + "digit 1 digitopodial skeleton", + "appendicular skeletal system", + "limb skeleton subdivision", + "upper limb segment", "appendicular skeleton", - "bone of appendage girdle complex", - "Abnormal cellular immune system morphology", - "manual digit 1 plus metapodial segment", - "digit plus metapodial segment", - "abnormal platelet morphology", + "abnormal manual digit morphology in the independent continuant", + "Abnormal hand morphology", + "abnormal limb morphology", + "Abnormality of thumb phalanx", "decreased length of manual digit", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormality of multiple cell lineages in the bone marrow", - "anatomical collection", - "occurrent", + "Abnormality of thrombocytes", + "abnormal size of anatomical entity", + "primary metabolic process", "skeleton of manual digitopodium", - "digit", - "Abnormality of the skeletal system", - "abnormal anatomical entity morphology in the independent continuant", - "segment of manus", - "negative regulation of cellular process", - "hematopoietic system", - "material entity", - "abnormal blood cell morphology", - "abnormal nervous system morphology", - "Cranial nerve paralysis", - "abnormal cell", - "bone element", - "manual digit bone", - "ear", - "Neoplasm by anatomical site", - "Short stature", - "Abnormality of limb bone", - "Aplasia/hypoplasia involving bones of the extremities", - "regulation of metabolic process", - "abnormal anatomical entity length", - "abnormal number of anatomical enitites of type cell", - "abnormal craniocervical region morphology", - "Thrombocytopenia", - "pectoral complex", - "Abnormality of the musculoskeletal system", - "Short digit", - "abnormal number of anatomical enitites of type myeloid cell", + "abnormal head", + "skeleton of manual acropodium", + "axial musculature", "manual digit digitopodial skeleton", - "abnormally decreased number of cell", - "biogenic amine secreting cell", - "abnormal immune system morphology", - "Hematological neoplasm", - "Aplasia/Hypoplasia of fingers", - "abnormally decreased number of anatomical entity", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "phenotype", - "Abnormal leukocyte count", - "metabolic process", - "nerve of head region", - "Neoplasm", - "abnormal bone marrow cell", - "system process", - "manual digit 1 phalanx endochondral element", - "skeletal system", - "abnormal limb long bone morphology", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal primary metabolic process", - "abnormal number of anatomical enitites of type anatomical entity", - "obsolete cellular nitrogen compound metabolic process", - "abnormal erythroid lineage cell morphology", + "pectoral appendage", + "autopod endochondral element", "Duplication of phalanx of hand", - "tissue", - "abnormal manual digit morphology in the manus", - "abnormal phenotype by ontology source", - "bone marrow cell", - "abnormal manus", - "leukocyte", - "abnormality of multicellular organism height", - "anatomical system", - "limb endochondral element", - "anatomical entity", - "digitopodium region", - "specifically dependent continuant", - "abnormally decreased number of myeloid cell", - "abnormal blood cell", - "abnormal growth", - "eukaryotic cell", - "Abnormality of thrombocytes", + "individual digit of digitopodial skeleton", + "Duplication of hand bones", + "peripheral nervous system", + "obsolete cell", + "limb long bone", "forelimb bone", - "Hearing impairment", - "endochondral element", - "Chromosome breakage", - "digit 1 or 5", - "Abnormality of limb bone morphology", - "forelimb long bone", - "abnormal manus morphology", - "cell", - "phenotype by ontology source", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormal myeloid cell morphology", - "craniocervical muscle", - "negative regulation of gene expression", + "Abnormal long bone morphology", + "phalanx of manus", + "manual digit 1 phalanx endochondral element", "digitopodium bone", - "abnormal number of anatomical enitites of type platelet", - "Acute leukemia", - "abnormal skeletal system", - "disconnected anatomical group", - "appendage", - "material anatomical entity", - "Pancytopenia", - "aplasia or hypoplasia of skeleton", - "cranial muscle", - "independent continuant", - "manual digitopodium region", - "abnormal peripheral nervous system", - "Abnormal immune system morphology", - "hemolymphoid system", - "Muscle weakness", - "anucleate cell", - "abnormal digit", - "Abnormality of bone marrow cell morphology", - "Abnormal skeletal morphology", - "primary metabolic process", - "abnormal anatomical entity morphology", - "Abnormality of the immune system", - "Abnormality of blood and blood-forming tissues", - "anatomical structure", - "Aplasia/hypoplasia involving the skeleton", - "abnormal hematopoietic system morphology", - "Acute myeloid leukemia", - "Duplication of bones involving the upper extremities", - "abnormal hematopoietic system", - "mesoderm-derived structure", - "cellular metabolic process", - "upper limb segment", - "phalanx", - "multicellular organism", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal platelet", - "regulation of cellular metabolic process", - "abnormal myeloid cell morphology", + "forelimb long bone", ], }, { - "id": "MONDO:0011584", + "id": "MONDO:0014985", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group D1", - "xref": [ - "DOID:0111089", - "GARD:17449", - "MESH:C563980", - "NCIT:C125705", - "OMIM:605724", - "Orphanet:319462", - "SCTID:766707003", - "UMLS:C1838457", - ], + "name": "Fanconi anemia complementation group V", + "xref": ["DOID:0111080", "GARD:16213", "OMIM:617243", "UMLS:C4310652"], "provided_by": "phenio_nodes", - "description": "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.", + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.", "synonym": [ - "FAD1", - "FANCD1", - "Fad1", - "Fanconi anemia complementation group D1", - "Fanconi anemia, complementation group D1", - "inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations", + "FANCV", + "Fanconi Anemia, complementation Group 5", + "Fanconi Anemia, complementation group V", + "Fanconi Anemia, complementation group type V", + "Fanconi anaemia caused by mutation in MAD2L2", + "Fanconi anaemia complementation group type V", + "Fanconi anemia caused by mutation in MAD2L2", + "Fanconi anemia complementation group type V", + "Fanconi anemia, complementation GROUP V", + "MAD2L2 Fanconi anaemia", + "MAD2L2 Fanconi anemia", ], "namespace": "MONDO", "has_phenotype": [ + "HP:0001875", "HP:0000252", - "HP:0004808", - "HP:0009778", + "HP:0001873", "HP:0005528", - "HP:0001511", - "HP:0000957", + "HP:0006254", "HP:0003221", - "HP:0001508", + "HP:0001903", "HP:0004322", - "HP:0006727", - "HP:0002023", ], "has_phenotype_label": [ + "Neutropenia", "Microcephaly", - "Acute myeloid leukemia", - "Short thumb", + "Thrombocytopenia", "Bone marrow hypocellularity", - "Intrauterine growth retardation", - "Cafe-au-lait spot", + "Elevated circulating alpha-fetoprotein concentration", "Chromosomal breakage induced by crosslinking agents", - "Failure to thrive", + "Anemia", "Short stature", - "T-cell acute lymphoblastic leukemias", - "Anal atresia", ], - "has_phenotype_count": 11, + "has_phenotype_count": 8, "has_phenotype_closure": [ - "UBERON:0001245", - "UBERON:0000161", - "UBERON:0001555", - "UBERON:0001007", - "UPHENO:0002833", - "HP:0002023", - "UPHENO:0086644", - "UPHENO:0002839", - "HP:0004322", - "HP:0004378", - "UPHENO:0081423", - "UPHENO:0080352", + "GO:0040007", "UPHENO:0081424", - "UPHENO:0069254", - "HP:0004323", - "UPHENO:0010795", - "UPHENO:0082794", - "UPHENO:0054261", - "HP:0001508", - "UPHENO:0053208", - "HP:0004325", - "GO:0048519", - "GO:0043170", - "GO:0046483", - "GO:0034641", - "HP:0040012", - "UPHENO:0049990", - "UPHENO:0049873", - "GO:0031049", - "GO:0009987", - "UPHENO:0049700", - "GO:0010558", - "HP:0003221", - "GO:0044237", - "GO:0071840", - "UPHENO:0050121", - "GO:0010556", + "UPHENO:0000543", + "UPHENO:0049874", + "HP:0001507", + "UPHENO:0012541", + "HP:0000002", + "HP:0001510", + "HP:0001877", + "CL:0000329", + "HP:0012130", + "UPHENO:0088162", + "CL:0000764", "GO:0009890", - "GO:0010605", - "GO:0006259", + "GO:0031324", "GO:0071824", - "GO:0060255", - "GO:0009892", - "GO:0048523", - "GO:0050789", - "GO:0006807", - "UPHENO:0063565", - "GO:0044238", + "UPHENO:0050021", "GO:0010629", - "HP:0000002", + "GO:0031049", + "GO:0060255", "GO:0009889", + "GO:0048523", + "GO:0043933", + "UPHENO:0050116", + "HP:0003221", + "UPHENO:0049990", + "UPHENO:0050121", "GO:0005623", - 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"UPHENO:0004459", - "NCBITaxon:6072", - "UPHENO:0012274", - "UBERON:0010314", + "GO:0071704", + "CL:0000219", + "UBERON:0011137", + "BFO:0000020", + "HP:0011991", + "UPHENO:0076675", + "CHEBI:36962", + "UPHENO:0002948", + "CHEBI:33256", "UBERON:0000062", - "HP:0034915", - "UBERON:0007811", - "HP:0012145", - "UBERON:0013702", - "UBERON:0002204", - "UBERON:0007272", - "BFO:0000001", - "HP:0009121", - "UPHENO:0075195", - "UPHENO:0002764", - "HP:0040195", - "UBERON:0010758", - "HP:0002977", - "HP:0011355", - "UBERON:0005451", - "UPHENO:0074584", - "HP:0001172", - "UPHENO:0080114", - "UBERON:0012475", - "UBERON:0000481", - "HP:0025461", - "UPHENO:0002536", - "HP:0001909", - "UBERON:0001434", - "HP:0011844", - "UBERON:0010912", - "GO:0090304", + "UPHENO:0086019", + "UPHENO:0011498", + "UPHENO:0077822", + "UBERON:0011216", + "UPHENO:0076703", + "UBERON:0002193", + "CL:0001035", + "UPHENO:0085354", + "PR:000018263", "UPHENO:0076799", - "UBERON:0002470", - "HP:0007400", - "HP:0012443", - "HP:0012639", - "HP:0000924", - "HP:0000001", - "GO:0008150", - "HP:0002813", - "UPHENO:0076791", - "HP:0000240", - "UPHENO:0001002", - "UBERON:0002544", - "UPHENO:0010763", - "OBI:0100026", - "UPHENO:0020888", - "UPHENO:0049874", - "UPHENO:0000543", - "UPHENO:0012541", - "UPHENO:0080221", - "UPHENO:0081435", - "UBERON:0002513", - "UBERON:0000153", - "GO:0006139", - "UPHENO:0050113", - "UPHENO:0001001", - "UBERON:0000475", - "GO:0016043", - "UPHENO:0050108", - "HP:0004377", + "UBERON:0000481", + "UPHENO:0020584", "UPHENO:0087518", + "OBI:0100026", + "CL:0000766", + "UPHENO:0084928", + "UPHENO:0088318", + "HP:0000001", + "HP:0011875", + "HP:0430071", + "UPHENO:0085042", + "HP:0025354", + "UPHENO:0082943", + "UPHENO:0085371", + "CL:0000457", + "HP:0012443", + "HP:0032251", + "UPHENO:0004459", + "CL:0000233", + "UPHENO:0080351", + "UPHENO:0076286", + "UPHENO:0049700", + "HP:0001911", + "UPHENO:0085405", + "UPHENO:0002764", + "GO:0006807", + "UPHENO:0006910", + "CL:0002242", + "GO:0010556", + "PR:000050567", + "UPHENO:0085076", + "BFO:0000003", + "UPHENO:0085356", + "PATO:0000001", + "UBERON:0034923", + "HP:0040012", + "UPHENO:0086005", + "UBERON:0000467", + "UBERON:0004765", + "UPHENO:0085118", "HP:0002715", - "UBERON:0004288", - "GO:0031324", - "HP:0002060", - "HP:0006721", - "UPHENO:0060026", + "GO:0090304", + "UPHENO:0015280", + "HP:0045056", + "UPHENO:0004523", + "UPHENO:0086176", + "GO:0065007", + "HP:0010974", + "UPHENO:0085070", + "CHEBI:36963", "HP:0000118", - "UPHENO:0074228", - "UBERON:0002090", - "UPHENO:0002905", - "UPHENO:0085195", - "UBERON:0011137", + "UBERON:0000033", + "UBERON:0000178", "HP:0011842", - "GO:0043933", + "UPHENO:0075696", + "HP:0001871", + "HP:0001875", + "UPHENO:0077426", + "GO:0034641", + "HP:0011893", + "PR:000064867", + "UPHENO:0085984", + "CHEBI:51143", + "CL:0000255", + "UPHENO:0085189", + "UPHENO:0051612", "CL:0000738", - "UBERON:0000061", - "UBERON:0004375", - "HP:0025033", - "HP:0000707", - "UBERON:0002097", - "HP:0000152", - "UBERON:0001890", - "UBERON:0001893", - "UBERON:0011216", - "UPHENO:0079876", - "UPHENO:0002844", - "UPHENO:0076803", - "UPHENO:0082682", - "NCBITaxon:33154", - "UPHENO:0002880", - "UBERON:0000467", - "UBERON:0010000", - "UPHENO:0020584", - "UBERON:0001460", - "UBERON:0000033", - "UPHENO:0080200", - "UPHENO:0076724", - "UPHENO:0046707", - "UPHENO:0003811", - "UPHENO:0076702", + "CL:0000763", + "CL:0000458", + "UPHENO:0088170", + "GO:0044238", + "UPHENO:0001001", + "UPHENO:0086589", + "UPHENO:0076791", + "CHEBI:37622", + "HP:0004322", + "UBERON:0003129", + "UPHENO:0086016", + "CL:0000000", + "UPHENO:0088166", + "BFO:0000001", + "UBERON:0004120", + "CL:0000094", + "UPHENO:0046362", + "HP:0007364", + "UBERON:0000468", + "HP:0032309", + "UBERON:0004121", + "UPHENO:0088335", + "GO:0006996", + "HP:0001939", + "NCBITaxon:33208", + "UPHENO:0076692", + "UPHENO:0002536", + "UBERON:0010314", "UBERON:0001062", - "GO:0031052", - "HP:0000929", - "HP:0002011", - "UPHENO:0081566", - "PATO:0000001", + "UPHENO:0088321", + "CL:0000775", "UBERON:0000075", - "GO:0019222", - "UPHENO:0076703", - "GO:0065007", - "GO:0031323", - "UBERON:0011138", - "GO:0050794", - "UBERON:0011676", - "UBERON:0002428", - "UPHENO:0076805", - "GO:0031327", - "UPHENO:0059829", - "UBERON:0001016", - "UBERON:0010712", + "UBERON:0010912", + "CL:0000225", + "UBERON:0010000", + "UBERON:0002390", + "CHEBI:15841", + "GO:0031326", + "UBERON:0002090", + "CHEBI:23367", + "UBERON:0000073", + "HP:0000929", + "UBERON:0000955", "UPHENO:0001005", - "GO:0006325", - "UBERON:0002101", - "HP:0005528", - "BFO:0000040", - "UBERON:0000026", - "UPHENO:0001003", + "HP:0040195", + "GO:0016043", + "HP:0002011", + "HP:0012145", + "BFO:0000002", + "HP:0012639", + "UPHENO:0051804", + "UBERON:0002204", + "GO:0044237", + "HP:0002977", + "NCBITaxon:131567", + "NCBITaxon:33154", + "GO:0006725", + "UBERON:0001893", + "UPHENO:0080200", + "UBERON:0001890", + "HP:0033127", + "UPHENO:0076702", + "HP:0001903", "UBERON:0005944", + "UPHENO:0088176", + "UBERON:0034925", + "BFO:0000040", + "HP:0033405", + "CHEBI:33304", + "UBERON:0013702", + "HP:0001873", + "UBERON:0007811", + "UPHENO:0075195", + "HP:0009121", + "NCBITaxon:6072", + "UPHENO:0002964", + "UPHENO:0086172", + "HP:0000707", + "UPHENO:0086173", + "UPHENO:0086049", + "HP:0011017", + "PR:000000001", + "UPHENO:0084987", + "UPHENO:0048707", + "CL:0000232", + "HP:0011873", + "CL:0000151", + "UPHENO:0085302", + "UBERON:0004288", + "UPHENO:0085144", + "HP:0020047", + "CL:0002092", + "CHEBI:33579", + "UPHENO:0051668", + "UPHENO:0087355", + "UPHENO:0049873", + "UBERON:0000153", + "HP:0005561", + "UPHENO:0087339", + "UPHENO:0035025", + "UBERON:0000479", + "HP:0005528", + "UBERON:0002371", + "GO:0006259", + "UBERON:0001474", + "UPHENO:0085195", + "UBERON:0001016", + "CHEBI:36357", + "UPHENO:0077821", + "UBERON:0000463", + "NCBITaxon:1", + "UPHENO:0046378", + "CHEBI:33302", + "UBERON:0000465", + "CHEBI:33582", + "CHEBI:16670", + "HP:0004364", + "HP:0010876", + "UPHENO:0085330", + "GO:0008152", + "UBERON:0002616", + "UPHENO:0048751", + "UPHENO:0046284", + "CHEBI:50860", + "CHEBI:16541", + "UPHENO:0068971", + "CHEBI:33695", + "UBERON:0001017", + "UPHENO:0081547", + "CHEBI:25806", + "CL:0000081", + "CHEBI:35352", + "UPHENO:0085068", + "CHEBI:32988", + "GO:0009987", + "CHEBI:33285", + "UPHENO:0051763", + "UPHENO:0020888", + "UPHENO:0077813", + "GO:0008150", + "CHEBI:33675", + "UPHENO:0076289", + "UPHENO:0077826", + "PR:000003809", + "BFO:0000015", + "CHEBI:33694", + "CHEBI:33839", + "UBERON:0006314", + "CHEBI:36080", + "CHEBI:50047", + "UPHENO:0051801", ], "has_phenotype_closure_label": [ - "digestive system", - "abnormal digestive system morphology", - "digestive tract", - "abnormal closing of the anatomical entity", - "anus", - "Abnormal anus morphology", - "T-cell acute lymphoblastic leukemias", - "Acute lymphoblastic leukemia", - "abnormal size of multicellular organism", + "delayed biological_process", + "Short stature", + "decreased height of the anatomical entity", + "Growth delay", "decreased size of the multicellular organism", + "Abnormality of body height", "abnormality of anatomical entity height", + "delayed growth", "decreased height of the multicellular organism", - "Failure to thrive", - "abnormality of anatomical entity mass", - "abnormal anus morphology", - "Abnormality of body weight", - "Decreased anatomical entity mass", - "decreased anatomical entity mass", - "abnormal metabolic process", - "abnormal chromatin organization", - "Abnormality of metabolism/homeostasis", - "Chromosomal breakage induced by crosslinking agents", + "abnormality of multicellular organism height", + "abnormal erythroid lineage cell morphology", + "Abnormal erythrocyte morphology", + "abnormal erythrocyte morphology", + "abnormal primary metabolic process", + "negative regulation of biosynthetic process", + "protein-DNA complex organization", + "regulation of cellular biosynthetic process", + "biological regulation", + "abnormal organelle organization", + "programmed DNA elimination", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "nucleic acid metabolic process", + "protein-containing complex organization", "regulation of biological process", - "organic substance metabolic process", - "decreased height of the anatomical entity", - "abnormal programmed DNA elimination by chromosome breakage", + "primary metabolic process", + "obsolete nitrogen compound metabolic process", + "cellular component organization or biogenesis", + "abnormal cellular component organization", "abnormal cellular metabolic process", + "obsolete cell", + "abnormal metabolic process", + "cellular process", + "abnormal cellular process", + "regulation of cellular metabolic process", + "regulation of metabolic process", "regulation of cellular process", - "Abnormality of digestive system morphology", "negative regulation of biological process", + "nucleobase-containing compound metabolic process", "organic cyclic compound metabolic process", "macromolecule metabolic process", - "obsolete heterocycle metabolic process", "obsolete cellular aromatic compound metabolic process", + "organelle organization", + "obsolete cellular nitrogen compound metabolic process", "cellular component organization", - "regulation of macromolecule metabolic process", - "orifice", - "regulation of cellular metabolic process", - "nucleobase-containing compound metabolic process", - "negative regulation of metabolic process", - "regulation of gene expression", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "programmed DNA elimination", - "abnormal organelle organization", - "regulation of cellular biosynthetic process", - "negative regulation of biosynthetic process", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "integument", - "integumental system", - "pigmentation", - "Abnormality of the integument", - "abnormal pigmentation", - "increased pigmentation in independent continuant", - "increased biological_process in independent continuant", - "Hyperpigmentation of the skin", - "increased qualitatively biological_process in independent continuant", - "negative regulation of macromolecule biosynthetic process", - "Abnormality of the skin", - "increased biological_process", - "abnormal integument", - "increased biological_process in skin of body", - "increased pigmentation", - "Hypermelanotic macule", - "abnormal pigmentation in independent continuant", - "abnormal biological_process in independent continuant", - "Abnormality of skin pigmentation", - "regulation of metabolic process", - "increased qualitatively biological_process", - "abnormal skin of body morphology", - "decreased multicellular organism mass", - "abnormal skin of body", - "Intrauterine growth retardation", - "developmental process", - "growth", - "Abnormality of chromosome stability", - "Abnormality of skin morphology", - "multicellular organismal process", - "biological_process", - "anatomical structure development", - "decreased qualitatively developmental process", - "changed biological_process rate", - "decreased developmental process", - "abnormal embryo development", - "abnormal bone marrow cell", - "abnormal bone marrow cell morphology", - "Abnormality of bone marrow cell morphology", - "changed embryo development rate", - "tissue", - "abnormal cell morphology", - "subdivision of organism along appendicular axis", - "forelimb", - "embryo development", - "autopodial skeleton", - "paired limb/fin", - "decreased biological_process", - "Abnormal appendicular skeleton morphology", - "abnormal anus", - "delayed biological_process", - "abnormal anatomical entity morphology in the manus", - "abnormal hematopoietic system morphology", - "Aplasia/hypoplasia involving the skeleton", - "pectoral appendage", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormal digit morphology", - "abnormal digestive system", - "bone marrow cell", - "abnormal manus", - "decreased size of the anatomical entity in the pectoral complex", - "abnormal development of anatomical entity", - "digitopodium region", - "segment of manus", - "cellular process", - "manual digit 1", - "Localized skin lesion", - "multi-limb segment region", - "endochondral element", - "digit 1 plus metapodial segment", - "anatomical conduit", - "obsolete nitrogen compound metabolic process", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "limb bone", - "bone of free limb or fin", - "decreased size of the anatomical entity in the independent continuant", - "Abnormal digit morphology", - "aplasia or hypoplasia of manual digit", - "decreased length of manual digit", - "autopodial extension", - "Abnormal finger morphology", - "Abnormality of the upper limb", - "decreased qualitatively biological_process", - "manual digit plus metapodial segment", - "immune system", - "Microcephaly", - "abnormal craniocervical region", - "limb skeleton subdivision", - "Bone marrow hypocellularity", - "Short finger", - "Abnormality of the nervous system", - "appendicular skeletal system", - "forebrain", - "paired limb/fin segment", - "Abnormal cell morphology", - "Abnormal forebrain morphology", - "Aplasia/Hypoplasia of the cerebrum", - "manus", - "decreased length of manual digit 1", "Growth abnormality", - "nervous system", - "skeleton of limb", - "Abnormal thumb morphology", - "segment of autopod", - "abnormal appendicular skeleton morphology", - "anus atresia", - "Aplasia/hypoplasia involving bones of the hand", - "manual digit 1 or 5", - "system", - "Abnormality of the hand", - "bone cell", - "abnormal head", - "abnormal autopod region morphology", - "abnormal limb", - "Abnormal hand morphology", - "anatomical entity atresia", - "abnormal manual digit morphology in the independent continuant", - "Growth delay", - "forelimb skeleton", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormality of multiple cell lineages in the bone marrow", - "skeleton of pectoral complex", - "skeleton", - "abnormal manual digit 1 morphology", - "tube", - "decreased length of anatomical entity", - "endochondral bone", - "decreased length of anatomical entity in independent continuant", - "phenotype by ontology source", - "abnormal manus morphology", - "arm", - "lateral structure", - "abnormal primary metabolic process", - "Aplasia/Hypoplasia of the thumb", - "digit plus metapodial segment", - "Neoplasm by anatomical site", - "Abnormality of limb bone", - "axial skeletal system", - "Aplasia/hypoplasia involving bones of the extremities", - "autopod region", - "musculoskeletal system", - "decreased size of the anatomical entity", - "protein-containing material entity", - "bone marrow", - "bone of appendage girdle complex", - "manual digit", - "aplasia or hypoplasia of telencephalon", - "Short digit", - "Short thumb", - "nucleic acid metabolic process", - "Decreased head circumference", - "abnormal hematopoietic system", - "leukocyte", - "Abnormal cellular phenotype", - "pectoral appendage skeleton", - "nucleate cell", - "organelle organization", - "Cafe-au-lait spot", - "decreased length of digit", - "hematopoietic cell", - "Chromosome breakage", - "digit 1 or 5", - "Neoplasm", - "Aplasia/Hypoplasia of fingers", - "abnormal immune system morphology", - "Abnormality of body height", - "abnormal postcranial axial skeleton morphology", - "manual digit 1 plus metapodial segment", - "Abnormal cellular immune system morphology", - "Abnormality of the anus", - "Acute leukemia", - "Macule", - "changed developmental process rate", - "manual digitopodium region", - "Abnormal immune system morphology", - "cellular component organization or biogenesis", - "abnormal immune system", - "Leukemia", - "acropodium region", - "abnormal leukocyte morphology", - "cellular metabolic process", - "cell", - "hemolymphoid system", - "abnormal manual digit morphology in the manus", - "abnormal cell", - "anatomical structure", - "Abnormality of blood and blood-forming tissues", - "digit 1", - "Abnormal skull morphology", - "organ system subdivision", + "programmed DNA elimination by chromosome breakage", + "regulation of gene expression", + "abnormal telencephalon morphology", + "anatomical entity", + "cellular organisms", + "polyatomic entity", + "Abnormality of head or neck", "craniocervical region", - "abnormal anatomical entity", - "skeletal element", - "Abnormality of the head", - "abnormal skull morphology", - "Abnormality of skull size", - "Morphological central nervous system abnormality", - "anatomical collection", - "obsolete cell", - "occurrent", - "abnormal skeletal system morphology", - "Decreased body weight", - "phenotype", - "Irregular hyperpigmentation", - "central nervous system", - "subdivision of skeleton", + "haemolymphatic fluid", + "body proper", + "aplasia or hypoplasia of telencephalon", + "regional part of brain", + "abnormal craniocervical region morphology", "regional part of nervous system", - "abnormal developmental process", - "Abnormality of limb bone morphology", - "abnormality of multicellular organism mass", + "forebrain", "abnormal anatomical entity morphology in the brain", - "Abnormal skeletal morphology", - "axial skeleton plus cranial skeleton", - "limb endochondral element", - "anatomical entity", - "abnormal arm", - "protein-DNA complex organization", - "abnormal telencephalon morphology", - "biological regulation", - "regulation of macromolecule biosynthetic process", - "process", - "cellular organisms", + "Abnormal skull morphology", + "Abnormal leukocyte morphology", + "Morphological central nervous system abnormality", + "cell", + "neutrophil", + "anterior region of body", "multi-tissue structure", - "abnormal forelimb morphology", - "abnormal brain morphology", - "abnormal limb bone", - "Abnormality of limbs", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal central nervous system morphology", - "root", - "primary metabolic process", "abnormal biological_process", - "abnormal anatomical entity morphology", - "abnormal size of anatomical entity", - "obsolete cellular nitrogen compound metabolic process", - "abnormal bone marrow morphology", - "subdivision of organism along main body axis", - "multicellular anatomical structure", - "skull", - "decreased qualitatively growth", - "delayed growth", - "organism", - "decreased growth", - "Abnormality of the skeletal system", - "abnormality of multicellular organism height", + "abnormal role bodily fluid level", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormal skeletal morphology", + "erythroid lineage cell", + "obsolete heterocycle metabolic process", + "Abnormal axial skeleton morphology", + "Chromosome breakage", + "abnormal chromatin organization", + "mesoderm-derived structure", + "macromolecule", "anatomical system", - "aplasia or hypoplasia of anatomical entity", + "main body axis", + "immune system", + "myeloid cell", + "organonitrogen compound", + "root", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal nervous system", + "Abnormal neutrophil count", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal bone marrow morphology", "quality", - "Anal atresia", - "Abnormal cellular physiology", - "abnormal nitrogen compound metabolic process", - "limb segment", - "appendage girdle complex", - "appendicular skeleton", - "Eumetazoa", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal myeloid leukocyte morphology", + "myeloid leukocyte", + "biological_process", + "phenotype by ontology source", + "anucleate cell", + "granulocyte", + "abnormal number of anatomical enitites of type myeloid cell", + "musculoskeletal system", + "Abnormal cell morphology", + "phenotype", + "Abnormal cellular phenotype", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal number of anatomical enitites of type anatomical entity", + "nervous system", + "anatomical collection", "All", - "Aplasia/Hypoplasia involving the central nervous system", - "organ", - "organism subdivision", + "abnormal skull morphology", + "increased level of protein", + "abnormally decreased number of leukocyte in the independent continuant", + "aplasia or hypoplasia of anatomical entity", + "Abnormal leukocyte count", + "decreased size of the anatomical entity in the independent continuant", + "secretory cell", + "central nervous system", + "abnormal blood alpha-fetoprotein level", + "hemolymphoid system", + "material anatomical entity", + "abnormal platelet morphology", + "Abnormal platelet count", + "growth", + "abnormally decreased number of anatomical entity in the independent continuant", + "serotonin secreting cell", + "nucleate cell", "postcranial axial skeletal system", - "entity", - "abnormal anatomical entity length", - "pectoral complex", - "Abnormality of the musculoskeletal system", + "abnormal phenotype by ontology source", + "hematopoietic cell", "skeletal system", + "motile cell", + "abnormal growth", + "abnormal leukocyte morphology", + "independent continuant", + "abnormal immune system morphology", + "nitrogen molecular entity", + "chromatin organization", + "negative regulation of macromolecule biosynthetic process", + "abnormal number of anatomical enitites of type granulocyte", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "amino acid chain", + "tissue", + "abnormal axial skeleton plus cranial skeleton morphology", + "organic molecular entity", + "primary amide", + "eukaryotic cell", + "skull", + "abnormal head", + "Abnormal myeloid leukocyte morphology", + "Abnormality of brain morphology", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "information biomacromolecule", + "multicellular organism", + "hematopoietic system", + "abnormally decreased number of neutrophil", + "Abnormal granulocyte count", + "Abnormality of the skeletal system", + "Abnormal granulocyte morphology", + "anatomical structure", + "regulation of macromolecule biosynthetic process", + "Abnormal circulating metabolite concentration", + "abnormally decreased number of granulocyte", + "structure with developmental contribution from neural crest", + "abnormal neutrophil", + "ectoderm-derived structure", + "abnormally decreased number of hematopoietic cell", + "pnictogen molecular entity", + "Abnormal nervous system morphology", + "abnormally decreased number of cell", + "oxygen molecular entity", + "abnormal cell", + "abnormal programmed DNA elimination by chromosome breakage", + "organochalcogen compound", + "oxygen accumulating cell", + "protein", + "organic amino compound", + "Abnormal erythroid lineage cell morphology", + "leukocyte", + "Abnormality of chromosome stability", + "abnormal central nervous system morphology", + "material entity", + "abnormal alpha-fetoprotein level", + "Aplasia/Hypoplasia involving the central nervous system", + "Microcephaly", "abnormal DNA metabolic process", - "metabolic process", - "digit", + "blood cell", + "chemical entity", + "abnormal myeloid cell morphology", + "Abnormal myeloid cell morphology", + "abnormal forebrain morphology", + "negative regulation of gene expression", "Phenotypic abnormality", - "anterior region of body", + "abnormal blood cell morphology", + "Neutropenia", + "abnormally decreased number of cell in the independent continuant", + "multicellular anatomical structure", + "Abnormality of neutrophils", + "Abnormality of skull size", + "subdivision of organism along main body axis", + "abnormal skeletal system morphology", + "protein-containing material entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "Abnormal immune system morphology", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of anatomical entity", + "Elevated circulating alpha-fetoprotein concentration", + "abnormally decreased number of granulocyte in the independent continuant", + "non-connected functional system", + "abnormal size of multicellular organism", + "bone element", + "abnormally decreased number of leukocyte", + "abnormal hematopoietic cell morphology", + "abnormal granulocyte morphology", + "Chromosomal breakage induced by crosslinking agents", + "Abnormal circulating organic compound concentration", + "protein-containing molecular entity", + "skeleton", + "bone marrow", + "abnormal hematopoietic system", + "disconnected anatomical group", + "abnormal immune system", + "abnormal anatomical entity", + "abnormal independent continuant nitrogen molecular entity level", + "Abnormality of the head", + "Abnormal forebrain morphology", "Abnormality of the immune system", - "structure with developmental contribution from neural crest", - "Aplasia/hypoplasia of the extremities", - "subdivision of skeletal system", - "negative regulation of gene expression", - "abnormal forebrain morphology", - "Opisthokonta", - "abnormal anatomical entity morphology in the independent continuant", - "Acute myeloid leukemia", - "abnormal limb morphology", - "brain", - "upper limb segment", - "paired limb/fin skeleton", + "Thrombocytopenia", + "abnormal anatomical entity morphology", "Abnormal cerebral morphology", - "postcranial axial skeleton", - "abnormal limb bone morphology", - "Short stature", - "skin of body", - "non-connected functional system", - "Hematological neoplasm", - "abnormal cellular component organization", - "cranial skeletal system", - "head", - "limb", - "abnormal nervous system", - "Metazoa", - "Abnormal axial skeleton morphology", - "continuant", "specifically dependent continuant", - "Abnormal nervous system morphology", - "Decreased multicellular organism mass", - "material anatomical entity", - "appendage", - "aplasia or hypoplasia of skeleton", - "independent continuant", - "Abnormal leukocyte morphology", - "ectoderm-derived structure", + "erythrocyte", + "abnormal blood cell", + "organ system subdivision", "abnormal size of skull", - "body proper", - "regulation of biosynthetic process", - "abnormal cellular process", - "Abnormality of brain morphology", - "regional part of brain", - "abnormal digit", - "increased pigmentation in skin of body", - "material entity", - "multicellular organism", - "Abnormality of the digestive system", - "Abnormality of head or neck", - "bone element", + "abnormal postcranial axial skeleton morphology", + "abnormal cell morphology", "abnormal nervous system morphology", - "changed biological_process rate in independent continuant", - "abnormal craniocervical region morphology", - "protein-containing complex organization", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal phenotype by ontology source", - "disconnected anatomical group", - "programmed DNA elimination by chromosome breakage", + "organism subdivision", + "decreased size of the anatomical entity", + "blood", + "subdivision of skeleton", + "Opisthokonta", + "telencephalon", + "axial skeletal system", + "abnormally decreased number of myeloid cell in the independent continuant", + "cranial skeletal system", + "postcranial axial skeleton", "abnormal skeletal system", - "abnormal growth", - "eukaryotic cell", - "decreased embryo development", + "Metazoa", + "axial skeleton plus cranial skeleton", + "Abnormality of the nervous system", + "Eumetazoa", "Eukaryota", - "abnormal head morphology", - "negative regulation of cellular process", - "multicellular organism development", - "hematopoietic system", - "mesoderm-derived structure", - "main body axis", - "motile cell", + "abnormal craniocervical region", + "organism", + "Decreased head circumference", + "Abnormality of thrombocytes", + "abnormal size of anatomical entity", + "abnormal platelet", + "cellular metabolic process", + "biogenic amine secreting cell", + "abnormal blood chemical entity level", + "abnormal number of anatomical enitites of type platelet", + "abnormally decreased number of platelet", + "bone marrow cell", + "abnormal blood protein polypeptide chain level", + "bone cell", + "Abnormality of bone marrow cell morphology", + "polypeptide", + "abnormal hematopoietic system morphology", + "Bone marrow hypocellularity", + "skeletal element", "negative regulation of cellular metabolic process", - "telencephalon", + "abnormal bone marrow cell morphology", + "Anemia", + "abnormal bone marrow cell", + "Abnormal circulating alpha-fetoprotein concentration", + "Abnormality of multiple cell lineages in the bone marrow", + "carbon group molecular entity", + "abnormal independent continuant chemical entity level", + "Abnormal circulating nitrogen compound concentration", + "peptide", + "continuant", + "protein polypeptide chain", + "abnormal chemical entity level", + "abnormal number of anatomical enitites of type hematopoietic cell", + "process", + "abnormal role independent continuant level", + "abnormal independent continuant protein level", + "chalcogen molecular entity", + "entity", + "subdivision of skeletal system", + "Abnormal circulating protein concentration", + "Abnormality of the musculoskeletal system", + "abnormally decreased number of myeloid cell", + "abnormal protein level", + "metabolic process", + "bodily fluid", + "organism substance", + "organ", + "occurrent", + "increased level of alpha-fetoprotein", + "abnormal role blood level", + "Abnormality of metabolism/homeostasis", + "organic substance metabolic process", + "Abnormal cellular physiology", + "increased level of chemical entity", + "head", + "amide", + "platelet", + "organooxygen compound", + "abnormal independent continuant alpha-fetoprotein level", + "p-block molecular entity", + "biomacromolecule", + "Abnormal platelet morphology", + "heteroorganic entity", + "alpha-fetoprotein", + "abnormal head morphology", + "abnormal independent continuant protein polypeptide chain level", + "Abnormality of blood and blood-forming tissues", + "molecular entity", + "DNA metabolic process", + "carboxamide", + "abnormal blood nitrogen molecular entity level", + "Abnormal circulating organic amino compound concentration", + "abnormal multicellular organism chemical entity level", + "main group molecular entity", + "negative regulation of cellular biosynthetic process", ], }, { - "id": "MONDO:0013248", + "id": "MONDO:0011325", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group O", - "xref": ["DOID:0111096", "GARD:15656", "OMIM:613390", "UMLS:C3150653"], + "name": "Fanconi anemia complementation group F", + "xref": ["DOID:0111088", "GARD:15355", "NCIT:C125707", "OMIM:603467"], "provided_by": "phenio_nodes", - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.", + "description": "Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM.", "synonym": [ - "FANCO", - "Fanconi Anemia, complementation group type O", - "Fanconi anaemia caused by mutation in RAD51C", - "Fanconi anaemia caused by mutation in Rad51C", - "Fanconi anaemia complementation group type O", - "Fanconi anemia caused by mutation in RAD51C", - "Fanconi anemia caused by mutation in Rad51C", - "Fanconi anemia complementation group type O", - "Fanconi anemia, complementation group O", - "RAD51C Fanconi anaemia", - "RAD51C Fanconi anemia", - "Rad51C Fanconi anaemia", - "Rad51C Fanconi anemia", + "FANCF", + "Fanconi Anemia, complementation group type F", + "Fanconi anaemia complementation group type F", + "Fanconi anemia complementation group F", + "Fanconi anemia complementation group type F", + "Fanconi anemia, complementation group F", ], "namespace": "MONDO", "has_phenotype": [ - "HP:0040012", - "HP:0000107", - "HP:0001245", - "HP:0025023", + "HP:0008551", "HP:0002984", "HP:0009777", - "HP:0000126", + "HP:0000750", + "HP:0000960", + "HP:0001882", + "HP:0000252", + "HP:0000957", + "HP:0002247", "HP:0000028", + "HP:0001631", "HP:0009778", - "HP:0009623", - "HP:0001627", - "HP:0003241", + "HP:0001873", + "HP:0000125", + "HP:0000405", + "HP:0000824", + "HP:0000568", + "HP:0002090", + "HP:0003221", + "HP:0000076", + "HP:0001643", + "HP:0005528", + "HP:0030260", + "HP:0000953", + "HP:0001328", + "HP:0001903", + "HP:0001508", + "HP:0001195", + "HP:0000089", + "HP:0001233", "HP:0004322", - "HP:0002023", - "HP:0003774", + "HP:0001511", + "HP:0001561", + "HP:0011419", ], "has_phenotype_label": [ - "Chromosome breakage", - "Renal cyst", - "Small thenar eminence", - "Rectal atresia", + "Microtia", "Hypoplasia of the radius", "Absent thumb", - "Hydronephrosis", + "Delayed speech and language development", + "Sacral dimple", + "Leukopenia", + "Microcephaly", + "Cafe-au-lait spot", + "Duodenal atresia", "Cryptorchidism", + "Atrial septal defect", "Short thumb", - "Proximal placement of thumb", - "Abnormal heart morphology", - "External genital hypoplasia", + "Thrombocytopenia", + "Pelvic kidney", + "Conductive hearing impairment", + "Decreased response to growth hormone stimulation test", + "Microphthalmia", + "Pneumonia", + "Chromosomal breakage induced by crosslinking agents", + "Vesicoureteral reflux", + "Patent ductus arteriosus", + "Bone marrow hypocellularity", + "Microphallus", + "Hyperpigmentation of the skin", + "Specific learning disability", + "Anemia", + "Failure to thrive", + "Single umbilical artery", + "Renal hypoplasia", + "2-3 finger syndactyly", "Short stature", - "Anal atresia", - "Stage 5 chronic kidney disease", + "Intrauterine growth retardation", + "Polyhydramnios", + "Placental abruption", ], - "has_phenotype_count": 15, + "has_phenotype_count": 34, "has_phenotype_closure": [ - "UPHENO:0086132", - "UPHENO:0002411", - "UPHENO:0002442", - "UBERON:0004121", - "UBERON:0000161", - "UPHENO:0086644", + "UBERON:0003100", + "UPHENO:0005170", + "UBERON:0000173", + "HP:0001561", + "GO:0009790", + "UPHENO:0080393", + "UPHENO:0081436", + "GO:0048856", + "UPHENO:0005642", + "UPHENO:0081424", + "UPHENO:0000543", "UPHENO:0080351", - "HP:0001507", - "GO:0040007", "UPHENO:0075159", - "HP:0001510", - "UPHENO:0080352", - "UPHENO:0081424", + "UBERON:5003622", + "UBERON:0006049", + "UPHENO:0078125", + "UPHENO:0078307", + "UPHENO:0078215", + "UPHENO:0076747", + "UPHENO:0078288", + "UPHENO:0075182", + "UPHENO:0081210", + "HP:0001195", + "UBERON:0000478", + "HP:0001159", + "UBERON:0000323", + "HP:0011403", + "UBERON:0002331", + "UPHENO:0075949", + "UBERON:0000922", + "HP:0010881", + "HP:0010948", + "GO:0040007", + "UPHENO:0049874", + "HP:0001507", + "UPHENO:0082794", + "HP:0001508", + "UPHENO:0054299", + "UPHENO:0010795", + "HP:0001877", + "HP:0001328", + "UBERON:0008811", + "HP:0000036", + "HP:0008736", + "UBERON:0000989", + "UPHENO:0050034", + "CL:0001035", + "HP:0012145", + "UPHENO:0087339", + "UPHENO:0087355", + "UBERON:0011695", + "HP:0002597", + "UPHENO:0086797", + "UPHENO:0002678", + "UPHENO:0087018", + "HP:0030962", + "UBERON:0004716", + "UPHENO:0015290", + "UBERON:0004572", + "UBERON:0006876", + "UBERON:0002201", + "HP:0001194", + "UBERON:0003498", + "UBERON:0007798", + "UBERON:0004145", + "UPHENO:0076729", + "UBERON:0000477", + "UBERON:0009856", + "CL:0000232", + "UPHENO:0002806", + "UPHENO:0082878", + "UBERON:0000056", + "HP:0010936", + "HP:0000069", + "UBERON:0036295", + "UBERON:0018707", + "UPHENO:0002437", + "HP:0000076", + "UPHENO:0075852", + "UBERON:0000479", + "HP:0000014", + "GO:0031326", + "GO:0009890", + "GO:0031324", + "GO:0006259", + "GO:0071824", + "UPHENO:0050021", + "GO:0010629", + "GO:0009889", + "GO:0031323", + "GO:0090304", + "UPHENO:0050116", + "HP:0003221", + "GO:0005623", + "UPHENO:0049700", + "UPHENO:0000541", + "GO:0010468", + "GO:0019222", + "GO:0006139", + "GO:0046483", + "HP:0000009", + "HP:0001939", + "UPHENO:0050845", + "HP:0003220", + "GO:0044238", + "GO:0071704", + "GO:0008152", + "UPHENO:0050113", + "GO:0031052", + "UPHENO:0080693", + "UPHENO:0002827", + "UPHENO:0082723", + "HP:0010978", + "UPHENO:0002448", + "UBERON:0004119", + "UBERON:0000171", + "UBERON:0002048", + "UPHENO:0019970", + "HP:0002090", + "UPHENO:0083263", + "HP:0012647", + "GO:0006952", + "UBERON:0001005", + "UPHENO:0049588", + "HP:0012649", + "HP:0002086", + "UPHENO:0087433", + "UPHENO:0087472", + "UBERON:0001987", + "UBERON:0002371", + "UPHENO:0075997", + "UBERON:0001456", + "HP:0000568", + "UPHENO:0075219", + "UBERON:0000047", + "UBERON:0010230", + "UBERON:0000019", + "HP:0008056", + "UPHENO:0087924", + "HP:0100887", + "HP:0000478", + "UBERON:0001004", + "HP:0000315", + "UPHENO:0068843", + "UPHENO:0080209", + "GO:0002790", + "CHEBI:24431", + "GO:0065007", + "UPHENO:0076287", + "GO:0006954", + "UPHENO:0080220", + "HP:0031072", + "UPHENO:0082671", + "UBERON:0006555", + "GO:0030252", + "UPHENO:0076293", + "UBERON:0002530", + "GO:0046903", + 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"UBERON:0003103", - "UPHENO:0068971", - "GO:0031049", - "UBERON:0003135", - "UBERON:0008878", - "HP:0002817", - "UPHENO:0081423", - "UBERON:0010712", - "UPHENO:0084771", - "UBERON:0017716", - "UPHENO:0076692", - "UPHENO:0069254", - "UBERON:0008785", - "UBERON:0004710", - "HP:0000107", - "UPHENO:0002786", - "UPHENO:0076710", - "UPHENO:0002830", - "UPHENO:0076723", - "CL:0000000", - "UBERON:0007271", - "HP:0034915", - "UBERON:0010538", - "UPHENO:0005651", - "UBERON:0002102", - "UPHENO:0086635", - "UPHENO:0018390", - "UBERON:0010708", - "HP:0001155", - "UPHENO:0088142", - "UBERON:0003606", - "UPHENO:0087006", - "HP:0006265", - "HP:0000079", + "HP:0009121", + "HP:0011100", + "UPHENO:0049990", + "UPHENO:0020659", "RO:0002577", - "HP:0005922", - "UPHENO:0078606", - "UPHENO:0002896", - "UPHENO:0085873", - "UPHENO:0002647", - "HP:0009815", - "UPHENO:0075195", - "UBERON:0010758", - "BFO:0000040", - "UBERON:0001245", - "UPHENO:0081341", - "UPHENO:0087346", - "HP:0000028", - "UBERON:0015212", - "GO:0031052", - "UBERON:0013702", - "UBERON:0002101", - "HP:0000078", - "GO:0006325", - "UPHENO:0002839", - "UBERON:0009569", - "UBERON:0013701", - "UBERON:0011143", - "UBERON:0001009", + "HP:0000951", + "UBERON:0001637", + "UPHENO:0077426", + "UPHENO:0085984", + "HP:0002715", + "HP:0030260", + "GO:0051234", + "UPHENO:0085371", + "CL:0000000", + "UPHENO:0050101", + "UPHENO:0088338", + "UPHENO:0078743", + "UPHENO:0076703", + "UPHENO:0085330", + "HP:0010460", + "UPHENO:0035025", + "UPHENO:0079876", + "UBERON:0001007", + "UPHENO:0078327", + "UPHENO:0087123", + "UBERON:0018674", + "UPHENO:0088319", + "UPHENO:0075872", + "GO:0010605", + "UPHENO:0035147", + "UBERON:0000474", + "HP:0025354", + "CL:0000255", + "UPHENO:0005986", + "CL:0002242", + "UPHENO:0087643", + "UPHENO:0002948", + "UBERON:0002100", + "UPHENO:0076675", + "UPHENO:0063722", + "UPHENO:0087376", + "HP:0001881", + "UPHENO:0078081", + "GO:0015833", + "UPHENO:0076735", + "UBERON:0006314", + "HP:0005561", + "HP:0011893", + "HP:0010987", "UPHENO:0002832", - "HP:0010946", - "HP:0012210", - "UBERON:0004054", - "UPHENO:0086700", - "UBERON:0004375", - "GO:0005623", - "GO:0009889", - "UPHENO:0031839", - "GO:0071824", - "UPHENO:0002642", - "HP:0000027", - "UPHENO:0002332", - "UPHENO:0076727", + "GO:0032502", + "HP:0032251", + "UPHENO:0085195", "UPHENO:0063629", - "UPHENO:0002803", - "UPHENO:0075949", - "GO:0009890", - "GO:0016043", - "HP:0025031", - "HP:0012718", - "UPHENO:0002378", - "UPHENO:0005597", - "HP:0003011", - "UPHENO:0020950", - "UBERON:0008837", - "UBERON:0000153", - "UPHENO:0084761", - "UPHENO:0052178", - "NCBITaxon:2759", - "UBERON:0000468", - "UBERON:0004907", - "UPHENO:0087802", + "UPHENO:0086635", + "HP:0000812", + "HP:0000240", + "UPHENO:0081628", + "UPHENO:0086855", + "UBERON:0001691", + "UPHENO:0075220", + "BFO:0000020", + "UBERON:0012354", + "UPHENO:0081566", + "NCBITaxon:1", + "HP:0000252", + "UBERON:0000055", + "UPHENO:0083689", "UBERON:0000489", - "HP:0001197", - "HP:0002818", - "HP:0002250", - "UBERON:0000916", - "UBERON:0010000", - "HP:0001939", - "UBERON:0004489", - "UBERON:0004122", - "HP:0000001", - "UPHENO:0076783", - "UPHENO:0075902", - "HP:0012732", - "UPHENO:0002725", - "GO:0050794", - "HP:0012622", - "UBERON:0011216", - "UPHENO:0063632", - "HP:0000083", - "GO:0031327", - "HP:0009127", - "UBERON:0000465", - "UPHENO:0087547", - "UPHENO:0012274", - "UBERON:0000062", + "UBERON:0010323", + "UPHENO:0069391", + "UBERON:0001017", "UPHENO:0026181", - "BFO:0000003", - "HP:0005927", - "HP:0006496", - "UBERON:0002100", - "UPHENO:0050113", - "UPHENO:0001001", - "UPHENO:0049700", - "HP:0006501", - "GO:1901360", - "UPHENO:0076779", + "UPHENO:0002964", + "UBERON:0001032", + "HP:0012443", + "UBERON:0002616", + "HP:0000050", + "UPHENO:0054970", + "HP:0012758", + "HP:0002011", + "UPHENO:0046707", + "UPHENO:0074575", + "UBERON:0000170", + "UPHENO:0076805", + "UPHENO:0080200", + "UBERON:0001890", + "UPHENO:0002476", + "NCBITaxon:33154", + "UBERON:0001893", + "UBERON:0000475", + "UPHENO:0076702", + "UPHENO:0076776", + "NCBITaxon:6072", + "UBERON:0000007", + "UPHENO:0080221", + "HP:0001034", + "UPHENO:0085410", + "HP:0001631", + "UPHENO:0080662", + "HP:0009777", "UBERON:0004921", - "UBERON:5006048", - "UBERON:0001008", - "GO:0043933", - "GO:0010556", - "UPHENO:0081792", - "UPHENO:0087427", - "GO:0043170", - "UBERON:0012141", - "UPHENO:0080126", - "UBERON:0005172", - "GO:0046483", - "UBERON:0001440", - "GO:0034641", - "UBERON:0012475", + "UPHENO:0082682", + "HP:0033127", + "HP:0007400", "UBERON:0000481", - "HP:0011314", - "UBERON:0005173", - "UPHENO:0049874", - "PATO:0000001", - "UPHENO:0086172", - "BFO:0000004", - "UPHENO:0052778", - "UPHENO:0079872", - "UBERON:0002417", - "HP:0025354", - "UPHENO:0049873", - "UPHENO:0049748", - "GO:0065007", - "UBERON:0001423", + "HP:0000957", + "HP:0000002", + "UPHENO:0076740", + "HP:0000953", + "UPHENO:0076684", + "UPHENO:0074589", + "UBERON:0003460", + "HP:0012733", + "GO:0010817", + "GO:0043473", + "UBERON:0004537", + "CL:0000081", + "UBERON:0000064", + "UBERON:0013522", + "HP:0002664", + "UPHENO:0063569", + "HP:0002589", + "UPHENO:0076783", + "HP:0011793", + "UPHENO:0003058", + "UBERON:0004088", + "UBERON:0000025", + "UBERON:0002090", + "HP:0002247", + "UBERON:0000072", + "UPHENO:0080362", + "GO:0006325", + "UPHENO:0063639", + "UPHENO:0053580", + "UPHENO:0081594", + "HP:0000035", + "HP:0004322", + "UPHENO:0087973", + "HP:0009380", + "UPHENO:0074228", + "UBERON:0000990", + "UBERON:0002114", + "UPHENO:0082761", + "CL:0000738", + "UBERON:0000160", + "UPHENO:0087427", + "UPHENO:0002808", + "HP:0025031", + "HP:0010461", + "UPHENO:0086621", + "HP:0001671", + "HP:0003026", + "CL:0000019", + "UPHENO:0081423", + "UBERON:0005409", + "UPHENO:0052231", + "HP:0000028", + "UPHENO:0069523", + "UPHENO:0002725", + "HP:0012718", + "UPHENO:0088337", + "HP:0002244", + "UBERON:0001558", "UPHENO:0086201", - "UBERON:0002513", - "UBERON:0000475", + "UPHENO:0076289", + "UBERON:0010712", + "HP:0000080", + "GO:0048519", "UBERON:0006058", - "GO:0006996", - "UBERON:0000477", - "UPHENO:0081433", - "HP:0001421", - "UPHENO:0081466", - "UPHENO:0076703", - "GO:0019222", - "UBERON:0001015", - "UPHENO:0001005", - "UPHENO:0086198", - "UBERON:0036295", - "UBERON:0005881", - "GO:0048232", - "UPHENO:0081204", - "HP:0011297", - "UPHENO:0075696", - "GO:0050789", - "UPHENO:0050121", - "HP:0000118", - "HP:0002813", + "HP:0008772", + "UPHENO:0085874", + "HP:0001871", + "UBERON:0000079", + "UPHENO:0078267", + "HP:0001000", + "UPHENO:0080382", + "GO:0048609", + "HP:0011419", + "GO:0051179", + "GO:0003006", + "UBERON:0003622", + "UBERON:0002471", + "UPHENO:0081755", + "CL:0000586", + "HP:0001627", + "UPHENO:0049970", + "UPHENO:0003055", + "UBERON:0005156", + "GO:0000003", + "HP:0000811", + "UPHENO:0081547", + "HP:0012243", + "UPHENO:0085194", + "HP:0001172", + "HP:0002973", + "UBERON:0011676", + "HP:0000025", + "UPHENO:0049985", + "HP:0000960", "UBERON:0000463", - "UPHENO:0001003", - "HP:0003220", - "UBERON:0000026", - "UPHENO:0050845", - "HP:0011017", - "GO:0071840", - "HP:0011805", - "GO:0044237", - "HP:0000035", - "GO:0031326", - "UBERON:0006048", - "UPHENO:0005433", - "BFO:0000002", - "GO:0008152", - "GO:0010605", - "UBERON:0001460", - "GO:0031324", - "UBERON:8450002", - "GO:0010558", - "UBERON:0004708", - "CL:0000019", - "HP:0009821", - "UPHENO:0012541", - "GO:0009892", - "BFO:0000015", - "UPHENO:0080079", - "UBERON:0011582", - "UPHENO:0063599", - "UPHENO:0087846", - "UBERON:0001434", - "UPHENO:0002536", - "GO:0009987", - "GO:0090304", - "UBERON:0004535", - "HP:0000119", - "UBERON:0004111", - "HP:0100871", - "UBERON:0000061", - "GO:0060255", - "UPHENO:0049990", - "BFO:0000001", - "UPHENO:0020584", - "UPHENO:0084132", - "UPHENO:0002880", - "UBERON:0000467", - "HP:0040012", - "GO:0048523", + "UPHENO:0078729", + "UBERON:0015228", + "UPHENO:0002830", + "UBERON:0004288", + "CL:0000015", + "UPHENO:0002764", + "UPHENO:0002597", + "GO:0007276", + "UBERON:0004176", + "HP:0008669", + "UBERON:0002405", + "UBERON:0003606", + "UPHENO:0021561", + "UPHENO:0086198", + "UPHENO:0077889", + "UPHENO:0079826", + "UPHENO:0002595", + "UBERON:0004122", + "UPHENO:0049940", + "CL:0000413", + "UPHENO:0002332", + "HP:0012874", + "UPHENO:0076718", + "UPHENO:0005651", + "UPHENO:0052778", + "UPHENO:0078452", + "UPHENO:0053298", + "UBERON:0003690", + "HP:0000078", + "HP:0100767", + "UBERON:0001968", + "UBERON:0000473", + "UPHENO:0086005", + "UBERON:0004053", + "UPHENO:0002598", + "UPHENO:0049367", + "HP:0001626", ], "has_phenotype_closure_label": [ - "Abnormal renal physiology", - "Abnormality of the urinary system physiology", - "Stage 5 chronic kidney disease", - "Chronic kidney disease", - "non-functional anatomical entity", - "abnormal anus morphology", - "abnormal anus", - "anus", - "Abnormality of the anus", - "orifice", - "Abnormal anus morphology", + "female organism", + "abnormal female reproductive system", + "Intrauterine growth retardation", + "multicellular organism development", + "delayed biological_process", + "Short stature", "abnormal size of multicellular organism", + "decreased height of the multicellular organism", + "abnormality of multicellular organism height", + "abnormally fused anatomical entity and anatomical entity", + "abnormally fused digit and digit", + "Abnormal 2nd finger morphology", + "digit 2", + "abnormally fused digit and anatomical entity", + "digit 2 plus metapodial segment", + "abnormally fused manual digit 2 and manual digit 3", + "abnormally fused anatomical entity and digit", + "Syndactyly", + "manual digit 2", + "abnormal manual digit 2 morphology", + "Renal hypoplasia", + "decreased size of the kidney", + "decreased embryo development", + "abnormal umbilical blood vessel morphology", + "Fetal ultrasound soft marker", + "entire extraembryonic component", + "Abnormality of the umbilical cord", + "Single umbilical artery", + "developing anatomical structure", + "abnormal late embryo", + "abnormal growth", + "Decreased multicellular organism mass", + "abnormality of multicellular organism mass", + "abnormality of anatomical entity mass", + "erythroid lineage cell", + "erythrocyte", + "abnormal erythrocyte morphology", + "oxygen accumulating cell", + "abnormal penis morphology", + "Hypoplasia of penis", + "External genital hypoplasia", + "Abnormal penis morphology", + "decreased size of the penis", + "anatomical structure development", + "Hypoplastic male external genitalia", + "tissue", + "Bone marrow hypocellularity", + "abnormal hematopoietic system morphology", + "Abnormality of bone marrow cell morphology", + "bone cell", + "conceptus", + "Abnormal blood vessel morphology", + "blood vasculature", + "abnormal great vessel of heart morphology", + "Abnormal morphology of the great vessels", + "heart vasculature", + "thoracic segment blood vessel", + "blood vessel", + "outflow tract", + "Congenital malformation of the great arteries", + "trunk blood vessel", + "abnormal artery morphology in the independent continuant", + "coronary vessel", + "abnormal incomplete closing of the ductus arteriosus", + "vascular system", + "abnormal systemic artery morphology", + "systemic artery", + "Abnormality of the lower urinary tract", + "Functional abnormality of the bladder", + "decreased size of the external male genitalia", + "Abnormal ureter physiology", + "abnormal embryo development", + "Microphallus", + "renal pelvis/ureter", + "bladder organ", + "Abnormality of the amniotic fluid", + "urinary bladder", + "abnormal size of kidney", + "Renal hypoplasia/aplasia", + "abnormal lower urinary tract", + "ureter", + "sac", + "Abnormality of the ureter", + "abnormal penis", + "abnormality of ureter physiology", + "abnormal primary metabolic process", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "regulation of biosynthetic process", + "regulation of cellular metabolic process", + "protein-containing complex organization", + "cellular metabolic process", + "abnormal cellular component organization", + "Chromosome breakage", + "negative regulation of gene expression", + "abnormal metabolic process", + "Abnormality of chromosome stability", + "Abnormal cellular physiology", + "Chromosomal breakage induced by crosslinking agents", + "metabolic process", + "abnormal DNA metabolic process", + "decreased height of the anatomical entity", + "regulation of cellular process", + "Failure to thrive", + "negative regulation of biological process", + "organic cyclic compound metabolic process", + "Placental abruption", + "obsolete heterocycle metabolic process", + "obsolete cellular aromatic compound metabolic process", + "intromittent organ", + "obsolete cellular nitrogen compound metabolic process", + "cellular component organization", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", + "abnormal vascular system morphology", + "negative regulation of macromolecule biosynthetic process", + "negative regulation of cellular biosynthetic process", + "chromatin organization", + "abnormal chromatin organization", + "Pneumonia", + "increased inflammatory response in independent continuant", + "Abnormality of immune system physiology", + "abnormal blood vessel morphology", + "lung", + "decreased growth", + "increased qualitatively inflammatory response", + "respiratory airway", + "Abnormal respiratory system physiology", + "abnormal lung morphology", + "abnormal response to stress", + "Abnormality of prenatal development or birth", + "increased inflammatory response", + "proximo-distal subdivision of respiratory tract", + "abnormal respiratory system", + "Increased inflammatory response", + "Abnormality of the respiratory system", + "abnormality of respiratory system physiology", + "abnormal bone marrow morphology", + "lower respiratory tract", + "response to stress", + "abnormal organelle organization", + "abnormal respiratory system morphology", + "abnormal size of eyeball of camera-type eye", + "abnormal face morphology", + "Abnormal eye morphology", + "abnormal orbital region", + "Abnormality of the face", + "simple eye", + "Abnormality of the eye", + "abnormal face", + "camera-type eye", + "orbital region", + "Abnormality of the orbital region", + "abnormal eyeball of camera-type eye", + "abnormal camera-type eye morphology", + "decreased size of the eyeball of camera-type eye", + "visual system", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormality of the vasculature", + "abnormal growth hormone secretion", + "abnormal biological_process in nervous system", + "abnormal multicellular organism chemical entity level", + "peptide secretion", + "external male genitalia hypoplasia", + "peptide transport", + "chemical entity", + "Abnormal endocrine physiology", + "secretion", + "increased qualitatively response to stimulus", + "signal release", + "regulation of biological process", + "cell communication", + "vasculature of organ", + "Abnormal circulating hormone concentration", + "abnormal secretion in independent continuant", + "Abnormal growth hormone level", + "abnormal inflammatory response", + "neuroendocrine gland", + "lower urinary tract", + "Hypopituitarism", + "decreased secretion in independent continuant", + "regulation of biological quality", + "Abnormal pituitary gland morphology", + "glandular system", + "abnormal independent continuant chemical entity level", + "abnormal pituitary gland morphology", + "gland", + "female reproductive system", + "gland of diencephalon", + "pituitary gland", + "adenohypophysis", + "abnormal blood chemical entity level", + "Abnormality of the diencephalon", + "abnormal role independent continuant level", + "abnormal diencephalon morphology", + "localization", + "cellular process", + "abnormal endocrine gland morphology", + "abnormal endocrine system", + "Abnormality of the endocrine system", + "abnormal diencephalon", + "abnormal urinary bladder", + "regulation of hormone levels", + "transport", + "Decreased response to growth hormone stimulation test", + "decreased biological_process in brain", + "abnormal secretion by cell", + "abnormal hypothalamus-pituitary axis", + "neuroendocrine system", + "peptide hormone secretion", + "Anterior hypopituitarism", + "abnormal hormone blood level", + "abnormal localization", + "Abnormality of metabolism/homeostasis", + "abnormal chemical entity level", + "abnormal transport", + "abnormal middle ear", + "decreased qualitatively sensory perception of mechanical stimulus", + "decreased sensory perception of sound", + "abnormality of middle ear physiology", + "nucleic acid metabolic process", + "abnormal sensory perception of sound", + "Hearing abnormality", + "obsolete nitrogen compound metabolic process", + "Abnormal ear physiology", + "abnormality of urinary bladder physiology", + "Abnormality of the middle ear", + "decreased vibrational conductance of sound to the inner ear", + "multi organ part structure", + "abnormal nitrogen compound metabolic process", + "nervous system process", + "sensory perception of sound", + "system process", + "vibrational conductance of sound to the inner ear", + "Pelvic kidney", + "excretory tube", + "abnormal kidney morphology", + "Ectopic kidney", + "abnormal renal system", + "abdomen element", + "Abnormality of the kidney", + "Abnormal localization of kidney", + "Abnormality of the upper urinary tract", + "renal system", + "excretory system", + "organic substance transport", + "Abnormal platelet count", + "Abnormality of globe size", + "abnormally decreased number of platelet", + "abnormal placenta", + "Abnormal cell morphology", + "abnormal hematopoietic cell morphology", + "abnormally decreased number of myeloid cell", + "great vessel of heart", + "abnormal myeloid cell morphology", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "Abnormal myeloid cell morphology", + "embryo", + "abnormal blood cell", + "abnormal cellular process", + "secretory cell", + "decreased length of manual digit", + "Short digit", + "Short finger", + "Short thumb", + "Abnormality of cardiovascular system morphology", + "vasculature of trunk", + "heart plus pericardium", + "interatrial septum", + "abnormal biological_process in central nervous system", + "primary circulatory organ", + "thoracic cavity element", + "eye", + "Functional abnormality of the middle ear", + "compound organ", + "cardiovascular system", + "abnormal cardiac atrium morphology", + "Abnormality of speech or vocalization", + "skeleton of pectoral complex", + "axial skeleton plus cranial skeleton", + "Growth delay", + "kidney", + "abnormal biological_process", + "aplasia or hypoplasia of external ear", + "abnormality of anatomical entity physiology", + "abnormally fused manual digit and manual digit", + "anatomical entity atresia", + "Abnormality of mental function", + "abnormal cardiovascular system morphology", + "abnormality of nervous system physiology", + "response to stimulus", + "sperm", + "Delayed speech and language development", + "Abnormality of limbs", + "Atypical behavior", + "Abnormal atrial septum morphology", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "biological_process", + "secretion by cell", + "abnormal nervous system", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "digit 1 or 5", + "abnormal interatrial septum morphology", + "abnormal digit", + "thoracic segment of trunk", + "abnormal cardiac atrium morphology in the independent continuant", + "abnormal manus morphology", + "abnormal blood cell morphology", + "pectoral appendage skeleton", + "changed embryo development rate", + "abnormal number of anatomical entities of type anatomical entity in blood", + "abdomen", + "manual digit 1 plus metapodial segment", + "trunk bone", + "umbilical cord", + "autopodial skeleton", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "haemolymphatic fluid", + "digit plus metapodial segment", + "abnormal digit morphology", + "abnormal manus", + "digit", + "Hyperpigmentation of the skin", + "decreased biological_process in independent continuant", + "absent anatomical entity", + "abnormal coronary vessel morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "abnormal skeletal system morphology", + "Abnormal digit morphology", + "abnormal ureter", + "multicellular organismal process", + "Aplasia/hypoplasia involving forearm bones", + "abnormal platelet", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal immune system morphology", + "nitrogen compound transport", + "aplastic anatomical entity", + "decreased length of manual digit 1", + "anterior region of body", + "Absent thumb", + "abnormal ear", + "increased qualitatively inflammatory response in independent continuant", + "abnormal autopod region morphology", + "abnormal bone marrow cell morphology", + "bone of free limb or fin", + "Sacrococcygeal pilonidal abnormality", + "decreased size of the external ear", + "Language impairment", + "agenesis of anatomical entity", + "abnormal role blood level", + "Conductive hearing impairment", + "abnormal anatomical entity morphology in the manus", + "acropodium region", + "skeleton of manus", + "abnormal platelet morphology", + "digit 1", + "Vesicoureteral reflux", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", + "abnormal renal system morphology", + "alimentary part of gastrointestinal system", + "abnormal artery morphology", + "Abnormal forearm morphology", + "abnormal anatomical entity", + "Aplasia/Hypoplasia of the radius", + "endochondral bone", + "Abnormal cardiac septum morphology", + "subdivision of skeleton", + "nervous system", + "forelimb zeugopod bone", + "Abnormality of brain morphology", + "Decreased body weight", + "regulation of metabolic process", + "manual digit 1", + "autopodial extension", + "pair of lungs", + "zeugopod", + "skeletal element", + "subdivision of head", + "appendage girdle complex", + "digit 1 plus metapodial segment", + "abnormal skeletal system", + "decreased size of the radius bone", + "Abnormal cellular phenotype", + "abnormal male reproductive organ morphology", + "occurrent", + "organ", + "appendicular skeleton", + "upper limb segment", + "anucleate cell", + "cardiac septum", + "pectoral complex", + "Abnormality of thrombocytes", + "Upper limb undergrowth", + "abnormal forelimb zeugopod bone", + "limb", + "Finger syndactyly", + "cell", + "Anemia", + "Abnormality of the hand", + "radius bone", + "arm", + "subdivision of skeletal system", + "entity", + "Abnormal vascular morphology", + "abnormal arm", + "head", + "Forearm undergrowth", + "Abnormal appendicular skeleton morphology", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "behavior", "growth", - "decreased height of the anatomical entity", - "decreased size of the multicellular organism", + "Aplasia/hypoplasia involving bones of the upper limbs", + "organ system subdivision", + "aplasia or hypoplasia of manual digit 1", + "system", + "appendicular skeletal system", + "anatomical system", + "arterial system", + "abnormal sensory perception", + "aplasia or hypoplasia of ear", + "decreased biological_process in multicellular organism", + "quality", + "Abnormality of the female genitalia", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "changed biological_process rate in independent continuant", + "Respiratory tract infection", + "absent digit", + "inflammatory response", + "phenotype", + "skeletal system", + "Abnormal endocrine morphology", + "motile cell", + "abnormal cellular metabolic process", + "musculoskeletal system", + "sense organ", + "abnormal limb bone", + "Abnormal nervous system morphology", + "platelet", + "absent sperm in the independent continuant", + "pelvic region element", + "absent anatomical entity in the multicellular organism", + "regulation of macromolecule biosynthetic process", + "Thrombocytopenia", + "multicellular organism", + "hematopoietic system", + "endoderm-derived structure", + "trunk region element", + "Aplasia/Hypoplasia of the external ear", + "embryo development", + "diencephalon", + "abnormal radius bone morphology", + "Hypoplasia of the radius", + "paired limb/fin", + "Aplasia/hypoplasia involving the skeleton", + "abnormal umbilical cord", + "structure with developmental contribution from neural crest", + "negative regulation of biosynthetic process", + "material entity", + "long bone", + "ectoderm-derived structure", + "multi-limb segment region", + "abnormal endocrine system morphology", + "sensory system", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "gonad", + "external ear hypoplasia", + "vessel", + "lateral structure", + "Abnormality of multiple cell lineages in the bone marrow", + "abnormal programmed DNA elimination by chromosome breakage", + "increased biological_process in lung", + "specifically dependent continuant", + "Abnormal cerebral morphology", + "abnormal erythroid lineage cell morphology", + "Abnormal morphology of the radius", + "abnormal head morphology", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "abnormal ductus arteriosus morphology", + "manual digit plus metapodial segment", + "abnormal shape of external ear", + "abnormal limb bone morphology", + "abnormally fused manual digit and anatomical entity", + "Abnormality of head or neck", + "abnormal kidney", + "abnormal reproductive system", + "craniocervical region", + "biogenic amine secreting cell", + "Abnormality of the skeletal system", + "Abnormal forearm bone morphology", + "blood", + "abnormal pigmentation in independent continuant", + "multicellular organismal reproductive process", + "abnormal head", + "systemic arterial system", + "entire sense organ system", + "continuant", + "hormone secretion", + "endocrine system", + "forelimb skeleton", + "decreased qualitatively reproductive process", + "genitourinary system", + "Microtia", + "phenotype by ontology source", + "Microcephaly", + "Abnormality of the musculoskeletal system", + "bone marrow", + "Abnormal cardiac atrium morphology", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Abnormal ear morphology", + "aplasia or hypoplasia of skeleton", + "abnormality of endocrine system physiology", + "non-connected functional system", + "embryonic cardiovascular system", + "organism subdivision", + "Abnormality of the nervous system", + "abnormality of internal male genitalia physiology", + "decreased qualitatively biological_process in independent continuant", + "Neoplasm", + "Abnormal intestine morphology", + "protein-DNA complex organization", + "vestibulo-auditory system", + "hematopoietic cell", + "behavior process", + "abnormal upper urinary tract", + "Limb undergrowth", + "decreased secretion in pituitary gland", + "Aplasia/Hypoplasia of the thumb", + "Abnormal communication", + "abnormality of ear physiology", + "absent anatomical entity in the forelimb", + "multicellular anatomical structure", + "All", + "anatomical collection", + "increased qualitatively biological_process", + "manus", + "negative regulation of cellular process", + "abnormal limb", + "abnormally fused manual digit 2 and anatomical entity", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormality of digestive system morphology", "abnormality of anatomical entity height", - "delayed growth", - "Growth delay", - "Abnormality of body height", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "delayed biological_process", - "External genital hypoplasia", - "cardiovascular system", - "abnormal cardiovascular system morphology", - "circulatory organ", - "viscus", + "subdivision of organism along main body axis", + "small intestine", + "main body axis", + "arterial blood vessel", + "decreased spermatogenesis", + "decreased size of the anatomical entity in the independent continuant", + "anatomical conduit", + "abnormal limb morphology", + "forelimb zeugopod skeleton", + "bone element", + "Abnormality of the ear", + "abnormally decreased number of leukocyte", + "abnormal ear morphology", + "umbilical blood vessel", + "abnormal heart morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", "thoracic segment organ", - "thoracic segment of trunk", - "heart plus pericardium", - "Abnormality of cardiovascular system morphology", - "abnormal cardiovascular system", - "primary circulatory organ", - "structure with developmental contribution from neural crest", - "Deviation of finger", - "Deviation of the hand or of fingers of the hand", - "Short finger", - "decreased length of manual digit", - "decreased length of manual digit 1", - "Short digit", - "decreased length of digit", - "Abnormal reproductive system morphology", - "abnormality of kidney physiology", + "Neurodevelopmental abnormality", + "regulation of gene expression", + "respiratory system", + "pectoral appendage", + "subdivision of organism along appendicular axis", + "establishment of localization", + "cell-cell signaling", + "Abnormal male reproductive system physiology", + "kidney hypoplasia", + "abnormal craniocervical region morphology", + "abnormal reproductive system morphology", + "decreased qualitatively growth", + "Abnormal inflammatory response", + "abnormally decreased number of hematopoietic cell", + "abnormal phenotype by ontology source", + "abnormal development of anatomical entity", + "Abnormal thumb morphology", + "subdivision of trunk", + "body proper", + "anatomical entity hypoplasia in independent continuant", + "shape anatomical entity", + "material anatomical entity", + "skeleton of limb", + "Abnormality of skin pigmentation", + "Patent ductus arteriosus", + "Abnormal pinna morphology", + "decreased qualitatively biological_process in central nervous system", + "abnormal bone of pectoral complex morphology", + "bone of pectoral complex", + "decreased length of anatomical entity", + "limb skeleton subdivision", + "skull", + "absent anatomical entity in the limb", + "Abnormal long bone morphology", + "absent sperm in the semen", + "increased qualitatively biological_process in independent continuant", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "Microphthalmia", + "abnormal external ear morphology", + "postcranial axial skeleton", + "decreased qualitatively developmental process", + "forelimb zeugopod bone hypoplasia", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "forelimb zeugopod", + "abnormal testis morphology", + "abnormal size of anatomical entity", + "Abnormal renal morphology", + "abnormal external genitalia", + "respiration organ", + "Sacral dimple", + "segment of autopod", + "Abnormal fetal morphology", + "abnormal intestine morphology", + "independent continuant", + "abnormally fused anatomical entity and manual digit", + "abnormal leukocyte morphology", + "decreased length of anatomical entity in independent continuant", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "Abnormality of the hypothalamus-pituitary axis", + "abnormal number of anatomical enitites of type anatomical entity", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "limb bone", + "forelimb bone", + "anatomical entity hypoplasia", + "appendage", + "root", + "internal genitalia", + "abnormal behavior", + "radius endochondral element", + "Aplasia/Hypoplasia of the ear", + "Azoospermia", + "mesoderm-derived structure", + "skeleton", + "male gamete generation", + "abnormal neuroendocrine gland morphology", + "endochondral element", "decreased biological_process", - "abnormality of male reproductive system physiology", - "semen", - "developmental process", - "reproduction", - "multicellular organismal process", + "radius bone hypoplasia", + "aplasia or hypoplasia of anatomical entity", + "Polyhydramnios", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal gamete generation", + "leukocyte", + "abnormally decreased number of anatomical entity in the blood", + "ear", + "absent anatomical entity in the independent continuant", + "abnormally localised testis", + "paired limb/fin skeleton", + "Short forearm", + "subdivision of digestive tract", + "penis hypoplasia", + "limb endochondral element", + "abnormal amniotic fluid", + "zeugopodial skeleton", + "limb long bone", + "eyeball of camera-type eye", + "decreased length of forelimb zeugopod bone", + "abnormality of immune system physiology", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "bone of appendage girdle complex", + "serotonin secreting cell", + "abnormal anatomical entity morphology in the appendage girdle complex", + "pigmentation", + "Abnormality of limb bone morphology", + "Abnormality of the vertebral column", + "abnormal bone marrow cell", + "abnormal shape of continuant", + "trunk", + "Macule", + "reproductive system", + "sacral region", "Abnormal testis morphology", - "sexual reproduction", - "developmental process involved in reproduction", - "multicellular organismal reproductive process", - "abnormal reproductive process", - "decreased qualitatively developmental process", + "abnormal integument", + "abnormal role bodily fluid level", + "dorsum", + "testis", + "Skin dimple", + "abnormal fused sacrum morphology", + "2-3 finger syndactyly", + "biological regulation", + "abdominal segment of trunk", + "bone of dorsum", + "abdominal segment element", + "abnormal external male genitalia morphology", + "abnormal vertebral column morphology", + "ductus arteriosus", + "abnormal opening of the anatomical entity", + "dorsal region element", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "spermatogenesis", + "macromolecule metabolic process", + "pelvic region of trunk", + "Neurodevelopmental delay", + "abnormal skin of body", + "Abnormality of the integument", + "aplastic manual digit 1", + "Abnormal sacrum morphology", + "face", + "aplasia or hypoplasia of manual digit", + "cardiac chamber", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", "absent anatomical entity in the semen", - "Short thumb", + "manual digit 2, 3 or 4", + "Fetal anomaly", + "Abnormality of skin morphology", + "integumental system", + "abnormal gland morphology", + "middle ear", + "integument", + "abnormal craniocervical region", + "sacral region of vertebral column", + "organism", + "irregular bone", + "fused sacrum", + "increased biological_process in independent continuant", + "abnormal skin of body morphology", + "bony pelvis", + "Growth abnormality", + "abnormal adenohypophysis", + "axial skeletal system", + "reproductive gland", + "abnormal skull morphology", + "Short long bone", + "reproductive organ", + "decreased developmental process", + "absent manual digit", + "subdivision of vertebral column", + "Abnormality of the gastrointestinal tract", + "vertebral column", + "abnormally fused anatomical entity and manual digit 3", + "telencephalon", + "bone element hypoplasia in independent continuant", "germ line cell", + "Abnormal axial skeleton morphology", + "abnormal vertebral column", + "Leukopenia", + "Abnormality of body weight", + "aplasia or hypoplasia of telencephalon", + "abnormal hematopoietic system", + "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", "gamete generation", - "changed developmental process rate", - "spermatogenesis", - "absent sperm", - "abnormally localised testis", - "abnormal multicellular organismal reproductive process", - "absent gamete", - "reproductive organ", - "organism substance", + "Abnormal nervous system physiology", + "Abnormality of the immune system", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", "Functional abnormality of male internal genitalia", - "decreased spermatogenesis", - "abnormal male reproductive system", - "absent sperm in the semen", - "obsolete multicellular organism reproduction", - "Azoospermia", - "Abnormality of the male genitalia", - "ectoderm-derived structure", - "male gamete", - "abnormality of reproductive system physiology", - "abnormality of anatomical entity physiology", - "sperm", + "abnormal developmental process involved in reproduction", + "heart blood vessel", + "abnormal limb long bone morphology", + "abnormal small intestine morphology", + "eukaryotic cell", + "hemolymphoid system", + "increased inflammatory response in lung", + "nucleate cell", + "abnormal number of anatomical enitites of type cell", + "sensory perception of mechanical stimulus", + "Abnormal upper limb bone morphology", + "skin of body", + "abnormally decreased number of anatomical entity", + "Abnormal immune system morphology", "external genitalia", - "gonad", + "abnormal manual digit 1 morphology", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal immune system", + "abnormally decreased number of cell", + "abnormal cardiac septum morphology", + "organism substance", + "immune system", + "nucleobase-containing compound metabolic process", + "abnormally decreased number of leukocyte in the blood", + "cavitated compound organ", + "Abnormal leukocyte count", + "intestine", + "Abnormal platelet morphology", + "Abnormal leukocyte morphology", + "Abnormal cellular immune system morphology", + "hormone transport", + "abnormal number of anatomical enitites of type platelet", + "abnormal brain morphology", + "abnormally decreased number of anatomical entity in the multicellular organism", + "forelimb", + "Abnormal forebrain morphology", + "bodily fluid", + "multi-tissue structure", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "Abnormal skull morphology", + "regional part of nervous system", + "decreased multicellular organism mass", + "Aplasia/Hypoplasia involving the central nervous system", + "primary metabolic process", + "forelimb endochondral element", + "Abnormality of the skin", + "abnormal duodenum morphology", + "hypothalamus-pituitary axis", + "signaling", + "abnormal anatomical entity morphology in the heart", + "Abnormality of limb bone", + "central nervous system", + "regional part of brain", + "vasculature", + "duodenum atresia", + "external ear", + "abnormal telencephalon morphology", + "Abnormalities of placenta or umbilical cord", + "amide transport", + "forelimb long bone", + "abnormal size of skull", + "Eumetazoa", + "Abnormal umbilical cord blood vessel morphology", + "negative regulation of cellular metabolic process", + "Eukaryota", + "abnormal central nervous system morphology", + "abnormal forebrain morphology", + "abnormal nervous system morphology", + "forebrain", + "blood cell", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "decreased biological_process in pituitary gland", + "endocrine gland", + "cranial skeletal system", + "Decreased head circumference", + "Cafe-au-lait spot", + "Hypermelanotic macule", + "late embryo", + "Gastrointestinal atresia", + "abnormal location of anatomical entity", + "reproduction", + "abnormal anatomical entity morphology", + "abnormally decreased number of anatomical entity in the independent continuant", + "increased pigmentation", + "manual digit 2 plus metapodial segment", + "reproductive structure", + "changed biological_process rate", + "increased biological_process in skin of body", + "Abnormal response to endocrine stimulation test", + "absent germ cell", + "abnormal external ear", + "increased biological_process", + "digit 2, 3 or 4", + "Specific learning disability", + "Abnormality of the anterior pituitary", + "decreased size of the anatomical entity", + "abnormal biological_process in independent continuant", + "abnormal appendicular skeleton morphology", "male organism", - "abnormal reproductive system morphology", - "abnormal male reproductive organ morphology", + "Irregular hyperpigmentation", + "increased pigmentation in independent continuant", + "placenta", + "organic substance metabolic process", + "heart", + "Abnormality of the head", + "abnormal pigmentation", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "Abnormal duodenum morphology", + "abnormal cell morphology", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "organ part", + "defense response", + "subdivision of tube", + "Decreased anatomical entity mass", + "Abnormality of the upper limb", + "Duodenal atresia", + "Neoplasm by anatomical site", + "respiratory tract", + "alimentary part of gastrointestinal system atresia", + "arm bone", + "Intestinal atresia", + "decreased anatomical entity mass", + "Abnormality of the digestive system", + "abnormal forelimb morphology", + "abnormal digestive system morphology", + "penis", + "digestive system element", + "abnormal alimentary part of gastrointestinal system", + "Morphological abnormality of the gastrointestinal tract", + "Abnormality of body height", + "tube", + "abnormal hormone independent continuant level", + "sensory perception", + "abnormal developmental process", + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "duodenum", + "intestine atresia", + "Abnormal placenta morphology", + "digestive tract", + "Abnormal small intestine morphology", + "abnormal digestive system", + "abnormal response to stimulus", + "abnormal closing of the anatomical entity", + "abnormal small intestine", + "organelle organization", + "postcranial axial skeletal system", + "abnormal spermatogenesis", + "limb segment", + "absent sperm", + "Abnormal lung morphology", + "cellular organisms", + "obsolete multicellular organism reproduction", + "delayed growth", + "abnormal cardiac atrium morphology in the heart", + "extraembryonic structure", + "gamete", + "Abnormality of reproductive system physiology", + "artery", + "germ cell", + "abnormal internal genitalia", + "Abnormality of the genital system", + "disconnected anatomical group", + "abnormal cell", + "male reproductive organ", + "Abnormal fetal cardiovascular morphology", + "Cryptorchidism", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "abnormal external male genitalia", + "changed biological_process rate in brain", + "haploid cell", + "Abnormality of the outer ear", + "abnormal gamete", + "abnormal male reproductive system", + "semen", + "Abnormal external genitalia", + "abnormally localised anatomical entity in independent continuant", + "male gamete", + "male germ cell", + "Abnormal respiratory system morphology", + "upper urinary tract", + "decreased length of digit", + "manual digitopodium region", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "male reproductive system", + "abnormal number of anatomical enitites of type sperm", + "manual digit", + "abnormal multicellular organismal reproductive process", + "anatomical entity", "decreased qualitatively biological_process", - "Abnormal spermatogenesis", - "abnormal internal genitalia", + "programmed DNA elimination", + "obsolete cell", + "decreased length of long bone", + "digestive system", + "internal male genitalia", + "growth hormone secretion", "external male genitalia", - "testis", - "Abnormality of the genital system", - "decreased qualitatively reproductive process", - "Cryptorchidism", + "regulation of macromolecule metabolic process", + "abnormal reproductive process", + "absent gamete", "abnormally localised anatomical entity", - "decreased developmental process", - "abnormal heart morphology", - "abnormal external genitalia", + "abnormal vasculature", + "changed developmental process rate", + "abnormal genitourinary system", + "sexual reproduction", + "developmental process involved in reproduction", + "Abnormality of male external genitalia", "abnormal male reproductive system morphology", - "renal pelvis/ureter", - "Abnormal renal pelvis morphology", + "decreased qualitatively sensory perception of sound", + "abnormal anatomical entity topology in independent continuant", + "Non-obstructive azoospermia", "reproductive process", - "Small thenar eminence", - "Fetal anomaly", - "biological_process", - "protein-containing material entity", - "subdivision of skeleton", - "increased size of the anatomical entity in independent continuant", - "appendage musculature", - "digit 1", - "abnormally dilated anatomical entity", - "increased size of the anatomical entity", - "Proximal placement of thumb", - "abnormal renal pelvis", - "anterior region of body", - "renal pelvis", - "autopodial skeleton", - "cellular component organization or biogenesis", - "Phenotypic abnormality", - "abnormal digit morphology", - "Abnormal large intestine morphology", - "abnormally dilated renal pelvis", - "absent anatomical entity", - "abnormal cellular metabolic process", - "rectum", - "acropodium region", - "Finger aplasia", - "digitopodium region", - "skeleton", - "Absent thumb", - "Abnormal digit morphology", - "aplasia or hypoplasia of manual digit", - "autopodial extension", - "Abnormality of reproductive system physiology", - "digit plus metapodial segment", - "Renal insufficiency", - "manual digitopodium region", - "Abnormal heart morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Forearm undergrowth", - "Aplasia/Hypoplasia of fingers", - "abnormal reproductive system", - "reproductive structure", - "male reproductive organ", - "Abnormal rectum morphology", + "negative regulation of metabolic process", + "decreased growth hormone secretion", "manual digit 1 or 5", - "digit 1 or 5", - "absent manual digit", - "abnormal digit", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "aplastic anatomical entity", - "agenesis of anatomical entity", - "manual digit", - "rectum atresia", - "Abnormal fetal genitourinary system morphology", - "manual digit 1 plus metapodial segment", - "paired limb/fin skeleton", - "Abnormal appendicular skeleton morphology", - "radius bone hypoplasia", - "Aplasia/hypoplasia involving the skeleton", - "palmar/plantar part of autopod", - "Abnormality of male external genitalia", - "Short long bone", - "mesoderm-derived structure", - "phenotype", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "continuant", - "regulation of macromolecule metabolic process", - "aplastic manual digit 1", - "abnormal rectum", - "abnormal limb long bone morphology", - "endochondral element", - "abnormal cell", - "bone element", - "skeleton of limb", - "forelimb zeugopod skeleton", - "male reproductive system", - "limb bone", - "abnormal forelimb zeugopod bone", - "abnormal limb bone morphology", - "abnormal forelimb zeugopod morphology", - "abnormal limb bone", + "abdominal segment bone", + "developmental process", + "abnormal manual digit morphology in the manus", + "Abnormal internal genitalia", + "amniotic fluid", "Aplasia/hypoplasia of the extremities", - "decreased length of forelimb zeugopod bone", - "Abnormal long bone morphology", - "skeleton of pectoral complex", - "abnormal cellular component organization", - "appendicular skeletal system", - "Aplasia/hypoplasia involving forearm bones", - "external soft tissue zone", - "Abnormal skeletal morphology", - "musculature of upper limb", - "anatomical collection", - "zeugopod", - "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "abnormal bone of pectoral complex morphology", - "aplasia or hypoplasia of skeleton", - "forelimb bone", - "limb long bone", - "trunk", - "digit 1 plus metapodial segment", - "radius endochondral element", - "Deviation of the thumb", - "skeletal element", - "Abnormal upper limb bone morphology", - "digit", - "abdominal segment of trunk", - "Abnormality of the skeletal system", - "bone of free limb or fin", - "Abnormal morphology of the radius", - "arm bone", - "radius bone", - "obsolete cellular nitrogen compound metabolic process", - "Abnormality of prenatal development or birth", - "decreased length of anatomical entity in independent continuant", - "endochondral bone", - "upper urinary tract", - "skeletal system", - "internal genitalia", - "anatomical cluster", + "Atrial septal defect", + "cardiac atrium", + "abnormal incomplete closing of the interatrial septum", + "export from cell", + "Abnormal reproductive system morphology", + "abnormal cardiovascular system", + "viscus", + "circulatory organ", + "bone marrow cell", "circulatory system", - "subdivision of skeletal system", + "paired limb/fin segment", + "septum", + "Abnormality of the bladder", + "abnormality of reproductive system physiology", + "Abnormal heart morphology", + ], + }, + { + "id": "MONDO:0044325", + "category": "biolink:Disease", + "name": "Fanconi anemia, complementation group W", + "xref": ["OMIM:617784", "UMLS:C4521564"], + "provided_by": "phenio_nodes", + "synonym": ["FANCW", "Fanconi anemia, complementation group W"], + "namespace": "MONDO", + "has_phenotype": [ + "HP:0002984", + "HP:0009777", + "HP:0000252", + "HP:0002247", + "HP:0002863", + "HP:0001510", + "HP:0002119", + "HP:0001511", + "HP:0001748", + "HP:0000824", + "HP:0002518", + "HP:0002308", + "HP:0031689", + "HP:0011800", + "HP:0000089", + "HP:0410049", + ], + "has_phenotype_label": [ "Hypoplasia of the radius", - "decreased length of long bone", - "Limb undergrowth", - "abnormal developmental process", - "Abnormality of limb bone morphology", - "Abnormal forearm morphology", - "abnormal large intestine morphology", - "abnormal growth", - "increased size of the renal pelvis", + "Absent thumb", + "Microcephaly", + "Duodenal atresia", + "Myelodysplasia", + "Growth delay", + "Ventriculomegaly", + "Intrauterine growth retardation", + "Polysplenia", + "Decreased response to growth hormone stimulation test", + "Abnormal periventricular white matter morphology", + "Chiari malformation", + "Megakaryocyte dysplasia", + "Midface retrusion", + "Renal hypoplasia", + "Abnormal radial ray morphology", + ], + "has_phenotype_count": 16, + "has_phenotype_closure": [ + "UPHENO:0076779", + "HP:0000079", + 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"UPHENO:0087585", + "UPHENO:0079872", + "UPHENO:0081091", + "HP:0002242", + "UBERON:0001474", + "UBERON:0002100", + "UPHENO:0082875", + "UPHENO:0076720", + "UBERON:0017672", + "UBERON:0001440", + "UPHENO:0002832", + "GO:0032502", + "UPHENO:0077873", + "UBERON:0002530", + "HP:0009115", + "UPHENO:0004523", + "UBERON:0010758", + "UPHENO:0002830", + "UBERON:0004288", + "UPHENO:0050108", + "UPHENO:0087006", + "UPHENO:0085144", + "HP:0040070", + "UBERON:0001869", + "UBERON:0002471", + "UPHENO:0046505", + "UPHENO:0002896", + "UPHENO:0075175", + "UPHENO:0079876", + "UBERON:0001007", + "UBERON:0000479", + "UBERON:0013522", + "UPHENO:0000543", + "HP:0002664", + "UPHENO:0063569", + "HP:0002589", + "UBERON:0000463", + "UPHENO:0076783", + "UPHENO:0085195", + "UPHENO:0063629", + "HP:0011793", + "UBERON:0011215", + "UBERON:0000025", + "UBERON:0002090", + "HP:0002247", + "UPHENO:0080362", + "UPHENO:0063639", + "UPHENO:0081594", + "HP:0009380", + "UPHENO:0074228", + "UBERON:0000990", + "HP:0009777", + "UBERON:0004921", + "UBERON:0002114", + "UBERON:0000160", + "UBERON:0004733", + "UPHENO:0087427", + "UPHENO:0002808", + "HP:0025031", + "UPHENO:0086621", + "GO:0065007", + "UBERON:0005409", + "UPHENO:0087531", + "UPHENO:0002725", + "HP:0012718", + "UPHENO:0009382", + "UPHENO:0088047", + "HP:0002244", + "HP:0001510", + "UPHENO:0076803", + "HP:0002863", + "HP:0007367", + "HP:0001871", + "HP:0004377", + "UPHENO:0081562", + "UPHENO:0000541", + "BFO:0000003", + "HP:0001507", + "UPHENO:0049874", + "HP:0002597", + "UPHENO:0065599", + "UPHENO:0081598", + "GO:0048856", + "UBERON:0005358", + "UPHENO:0005597", + "UBERON:0005282", + "UBERON:0003947", + "UBERON:0005281", + "UBERON:0000153", + "UBERON:0004086", + "OBI:0100026", + "UPHENO:0001072", + "UPHENO:0076812", + "HP:0002118", + "UPHENO:0001440", + "UPHENO:0080382", + "UPHENO:0005642", + "UPHENO:0081436", + "UPHENO:0080393", + "GO:0009790", + "UPHENO:0050121", + "UBERON:0004121", + "HP:0000924", + "GO:0007275", + "UPHENO:0004459", + "UPHENO:0003116", + "UPHENO:0051804", + "UPHENO:0052778", + "UPHENO:0080220", + "HP:0002715", + "UPHENO:0069110", + "UPHENO:0014240", + "UBERON:0002106", + "HP:0040068", + "UPHENO:0002708", + "HP:0100763", + "UPHENO:0081466", + "CL:0002092", + "UPHENO:0087339", + "UBERON:0002398", + "UBERON:0009569", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0004535", + "UBERON:8600018", + "HP:0031072", + "UPHENO:0075774", + "UPHENO:0001005", + "HP:0000824", + "UPHENO:0002819", + "HP:0001626", + "UBERON:0011249", + "UPHENO:0087267", + "HP:0025408", + "CL:0000988", + "UPHENO:0056059", + "UBERON:0006314", + "UPHENO:0087123", + "UBERON:0001009", + "UBERON:0004177", + "HP:0006265", + "HP:0009799", + "UPHENO:0002948", + "HP:0012210", + "UBERON:0008962", + "UBERON:0001463", + "GO:0071702", + "UBERON:0000916", + "HP:0001511", + "UBERON:0002417", + "UPHENO:0002536", + "GO:0032940", + "GO:0030072", + "UBERON:0005173", + "UBERON:0002389", + "UPHENO:0087349", + "UPHENO:0046538", + "UBERON:0000468", + "HP:0001743", + "GO:0006810", + "UBERON:0005057", + "UPHENO:0073937", + "UBERON:0005177", + "UPHENO:0014335", + "UPHENO:0077872", + "UBERON:0000007", + "UPHENO:0080221", + "HP:0032367", + "HP:0002012", + "GO:0007267", + "UPHENO:0002332", + "UBERON:0003466", + "UBERON:0000949", + "UPHENO:0046284", + "UBERON:0003937", + "UBERON:0005156", + "UPHENO:0080588", + "UBERON:0002386", + "UPHENO:0077887", + "UPHENO:0005652", + "HP:0012503", + "GO:0051179", + "UPHENO:0075220", + "UPHENO:0081628", + "UPHENO:0051668", + "UPHENO:0087355", + "UBERON:0000489", + "UBERON:0010323", + "UPHENO:0083689", + "GO:0007154", + "HP:0031071", + "UBERON:0011299", + "UPHENO:0049587", + "BFO:0000015", + "HP:0011747", + "UPHENO:0042775", + "UBERON:0034923", + "UPHENO:0086735", + "GO:0010817", + "UPHENO:0080126", + "UPHENO:0049927", + "UBERON:0015204", + "UPHENO:0087376", + "GO:0050789", + "UBERON:0002196", + "UPHENO:0046540", + "UBERON:0001894", + "HP:0025461", + "UPHENO:0051763", + "UPHENO:0083951", + "UPHENO:0075772", + "HP:0000818", + "UPHENO:0087516", + "UBERON:0010712", + "UPHENO:0076289", + "UPHENO:0076286", + "HP:0040075", + "GO:0046903", + "UPHENO:0011498", + "UBERON:0004381", + "UPHENO:0077890", + "GO:0030252", + "UBERON:0004122", + "UPHENO:0077889", + "UPHENO:0076287", + "CHEBI:24431", + "HP:0010993", + "UPHENO:0076735", + "GO:0015833", + "UBERON:0002316", + "GO:0002790", + "UPHENO:0076953", + "HP:0002180", + "UBERON:0000454", + "UBERON:0019221", + "HP:0002438", + "HP:0002518", + "HP:0000240", + "UPHENO:0086635", + "UBERON:0003544", + "UPHENO:0088186", + "UBERON:0005162", + "NCBITaxon:6072", + "UPHENO:0021803", + "UBERON:0000063", + "UBERON:0011216", + "HP:0011024", + "HP:0001317", + "UPHENO:0072814", + "UBERON:0004732", + "NCBITaxon:33154", + "UPHENO:0071309", + "UPHENO:0081601", + "UBERON:0002204", + "HP:0011282", + "CL:0000763", + "CL:0000000", + "HP:0025033", + "UPHENO:0088145", + "UBERON:0002371", + "HP:0025354", + ], + "has_phenotype_closure_label": [ + "Abnormal radial ray morphology", + "Abnormality of the genitourinary system", + "Renal hypoplasia", + "abnormal kidney morphology", + "cavitated compound organ", + "abnormal renal system", + "Abnormal renal morphology", + "compound organ", + "decreased size of the kidney", + "Abnormality of the kidney", + "abnormal kidney", + "abnormal size of kidney", + "Renal hypoplasia/aplasia", + "Abnormality of the upper urinary tract", + "renal system", + "genitourinary system", + "excretory system", + "abnormal face morphology", + "Abnormality of the face", + "anatomical entity hypoplasia in face", + "Midface retrusion", + "abnormal midface morphology", + "abnormal face", + "localization", + "Abnormal duodenum morphology", + "abnormal alimentary part of gastrointestinal system morphology", + "Decreased head circumference", "organism", - "Short stature", - "Rectal atresia", - "Abnormality of limb bone", - "Neoplasm by anatomical site", - "Aplasia/hypoplasia involving bones of the hand", - "Morphological abnormality of the gastrointestinal tract", - "large intestine", - "Abnormal male reproductive system physiology", - "gamete", - "organ part", - "Abnormality of the digestive system", - "Abnormal skeletal muscle morphology", - "Abnormality of the gastrointestinal tract", - "anal region", - "Intestinal atresia", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "root", + "appendage", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "abnormal renal system morphology", "alimentary part of gastrointestinal system", - "Neoplasm", - "abnormal location of anatomical entity", - "Abnormality of the musculature of the upper limbs", - "abnormal digestive system", - "subdivision of digestive tract", - "decreased length of anatomical entity", - "abnormal digestive system morphology", - "abnormal external male genitalia", - "late embryo", - "digestive tract", - "material entity", - "abnormal closing of the anatomical entity", - "long bone", - "Abnormal internal genitalia", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "abnormal diencephalon", + "abnormal forebrain morphology", + "secretion", + "Eumetazoa", "Eukaryota", - "Abnormal finger morphology", - "abnormal manual digit 1 morphology", - "abnormal alimentary part of gastrointestinal system", - "Anal atresia", - "abnormal gamete", - "Fetal ultrasound soft marker", - "forelimb zeugopod bone hypoplasia", - "tube", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", + "tissue", + "craniocervical region", + "regional part of brain", + "Abnormality of brain morphology", + "aplasia or hypoplasia of telencephalon", + "abnormal forelimb zeugopod morphology", + "changed biological_process rate in independent continuant", + "Aplasia/Hypoplasia involving the central nervous system", "Abnormality of the cardiovascular system", - "Abnormal cellular physiology", - "abnormal biological_process", - "multi-tissue structure", - "biological regulation", - "organ system subdivision", - "process", + "Abnormal midface morphology", + "regional part of nervous system", + "abnormal anatomical entity morphology in the brain", + "Abnormal skull morphology", + "Abnormal cerebral morphology", + "abnormal anatomical entity morphology", + "specifically dependent continuant", "main body axis", - "aplasia or hypoplasia of radius bone", + "forelimb zeugopod bone", + "nervous system", + "abdominal viscera", + "Abnormality of the head", + "abnormal secretion in independent continuant", "cellular organisms", + "abnormal digit", + "Metazoa", + "Abnormal hand morphology", + "abnormal manual digit morphology in the independent continuant", "absent anatomical entity in the independent continuant", - "subdivision of organism along appendicular axis", - "male gamete generation", - "zeugopodial skeleton", - "abnormal anatomical entity", - "paired limb/fin", + "abnormal manus morphology", + "pectoral appendage skeleton", + "Finger aplasia", + "autopodial skeleton", + "postcranial axial skeletal system", + "paired limb/fin skeleton", + "haemolymphatic fluid", + "digit plus metapodial segment", + "abnormal digit morphology", + "abnormal manus", + "telencephalon", + "abnormal nervous system", + "secretion by cell", + "digit", + "abnormal hormone blood level", + "abnormal manual digit 1 morphology", + "changed embryo development rate", + "Intrauterine growth retardation", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "protein-containing material entity", + "abnormal skeletal system morphology", + "abnormal biological_process in central nervous system", + "Abnormal digit morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal immune system morphology", + "anterior region of body", + "Absent thumb", + "abnormal autopod region morphology", + "Hematological neoplasm", + "agenesis of anatomical entity", + "ectoderm-derived structure", + "subdivision of organism along main body axis", + "small intestine", + "Abnormal endocrine morphology", + "manus", + "abnormal limb", + "Abnormality of digestive system morphology", + "cerebral subcortex", + "acropodium region", + "bone marrow", + "skeleton of manus", + "digit 1", "Gastrointestinal atresia", - "Metazoa", - "pectoral appendage", - "thenar eminence", - "Short forearm", + "anatomical system", + "digit 1 or 5", + "segmental subdivision of hindbrain", + "segment of autopod", + "multicellular organism development", + "reproductive system", + "aplastic manual digit 1", "abnormal intestine morphology", - "male germ cell", - "lateral structure", - "limb", - "paired limb/fin segment", - "Hydronephrosis", - "abnormal manus", - "Dilatation of the renal pelvis", - "abnormal manual digit morphology in the independent continuant", - "anatomical entity atresia", - "abnormal arm", - "Abnormality of the musculature of the hand", - "decreased size of the anatomical entity in the pectoral complex", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "root", - "haploid cell", - "Abnormal renal morphology", - "Abnormality of limbs", - "abnormal alimentary part of gastrointestinal system morphology", + "bone cell", + "megakaryocyte", + "independent continuant", + "abnormal growth", + "cerebral hemisphere", + "abnormal size of anatomical entity", + "material anatomical entity", + "manual digit plus metapodial segment", + "Abnormal forearm morphology", + "abnormal anatomical entity", + "mesoderm-derived structure", + "anatomical collection", + "All", + "abnormal telencephalon morphology", + "decreased size of the anatomical entity in the independent continuant", + "Abnormal nervous system morphology", + "abnormal limb bone", + "bone element", + "forelimb zeugopod skeleton", + "paired limb/fin", + "Hypoplasia of the radius", + "abnormal head morphology", + "Chiari malformation", + "Abnormal cerebral subcortex morphology", + "Abnormal morphology of the radius", "multi-limb segment region", - "disconnected anatomical group", - "thenar eminence hypoplasia", - "Abnormal intestine morphology", - "abnormal forelimb morphology", - "organ", - "protein-DNA complex organization", - "trunk region element", + "Forearm undergrowth", + "blood", + "skeletal element", + "zeugopod", + "body proper", + "manual digit", + "Leukoencephalopathy", + "pectoral appendage", + "central nervous system", + "Abnormality of limb bone", + "head", + "increased size of the anatomical entity", + "limb", + "cell", + "abnormal appendicular skeleton morphology", + "Abnormality of skull size", "pectoral complex", - "abnormal thenar eminence", - "abnormal musculature of manus", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormality of the thenar eminence", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the hand", - "subdivision of organism along main body axis", - "abnormal muscle organ morphology", - "Non-obstructive azoospermia", - "absent anatomical entity in the multicellular organism", - "abnormal number of anatomical enitites of type cell", - "abnormal anatomical entity length", - "Abnormality of the musculoskeletal system", - "abnormal rectum morphology", - "abnormally localised anatomical entity in independent continuant", + "trunk region element", + "decreased developmental process", + "zeugopodial skeleton", + "limb long bone", + "Short forearm", + "subdivision of digestive tract", + "delayed biological_process", + "regulation of hormone levels", + "limb endochondral element", + "Abnormality of head or neck", + "hemopoietic organ", + "long bone", + "material entity", + "Abnormal appendicular skeleton morphology", + "Abnormal axial skeleton morphology", + "Abnormal skeletal morphology", + "Abnormal forebrain morphology", + "forelimb", + "decreased size of the anatomical entity in the pectoral complex", + "Aplasia/hypoplasia of the extremities", + "Aplasia/hypoplasia involving bones of the hand", + "bone element hypoplasia in independent continuant", "musculoskeletal system", - "decreased size of the anatomical entity", - "compound organ", - "autopod region", - "abnormal spatial pattern of anatomical entity", - "abnormal limb", - "Abnormal hand morphology", - "forelimb long bone", - "cell", - "phenotype by ontology source", - "abnormal manus morphology", - "abnormal cellular process", - "regulation of biosynthetic process", - "abnormal musculature of upper limb", - "pectoral appendage musculature", - "digestive system", - "musculature", + "absent digit", + "organic substance transport", + "abnormal brain white matter morphology", + "Abnormal hindbrain morphology", + "phenotype", + "brain ventricle/choroid plexus", + "peptide transport", + "Abnormal cell morphology", + "anatomical entity hypoplasia", + "forelimb bone", + "hormone secretion", + "endocrine system", "forelimb skeleton", - "musculature of body", - "bone of appendage girdle complex", - "muscle organ", - "anatomical entity hypoplasia in independent continuant", - "digestive system element", - "non-functional kidney", - "abnormal size of anatomical entity", + "abnormal localization", + "abnormal duodenum morphology", + "forelimb endochondral element", + "abnormal axial skeleton plus cranial skeleton morphology", "Opisthokonta", - "abnormal palmar part of manus morphology", - "abnormal late embryo", - "manual digit 1", - "Abnormality of the musculature of the limbs", - "manual digit plus metapodial segment", + "lymphoid system", + "skeleton of limb", + "Abnormality of the hypothalamus-pituitary axis", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of the lymphatic system", + "limb bone", + "kidney hypoplasia", + "abnormal craniocervical region morphology", + "continuant", + "lateral structure", + "skeleton of pectoral complex", + "decreased length of anatomical entity in independent continuant", + "skeleton", + "abnormal cerebellum morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "forelimb zeugopod", + "anatomical structure development", + "Aplasia/Hypoplasia of fingers", + "abnormal blood chemical entity level", + "digitopodium region", + "subdivision of skeleton", + "Aplasia/Hypoplasia of the radius", + "endochondral bone", + "subdivision of organism along appendicular axis", + "abnormal growth hormone secretion", + "Abnormality of the vasculature", + "abnormal central nervous system morphology", + "skull", "limb skeleton subdivision", - "musculature of limb", - "abnormal musculature of limb", - "negative regulation of macromolecule biosynthetic process", - "Abnormality of the genitourinary system", - "germ cell", - "abnormal spermatogenesis", - "segment of manus", - "musculature of pectoral complex", + "Upper limb undergrowth", + "abnormal forelimb zeugopod bone", + "Phenotypic abnormality", + "decreased length of anatomical entity", + "bone of pectoral complex", + "entity", + "subdivision of skeletal system", + "postcranial axial skeleton", + "decreased qualitatively developmental process", + "abnormal manual digit morphology in the manus", + "Abnormality of the hand", + "radius bone", + "forelimb zeugopod bone hypoplasia", + "abnormal limb bone morphology", + "immune organ", + "abnormal phenotype by ontology source", + "absent manual digit", + "duodenum atresia", + "vasculature", + "abnormal hemopoietic organ morphology", + "organ system subdivision", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "Hypopituitarism", + "brain", "abnormal anatomical entity morphology in the independent continuant", + "aplasia or hypoplasia of manual digit 1", + "system", + "appendicular skeletal system", + "abnormal spleen morphology", + "abnormal chemical entity level", + "absent anatomical entity in the multicellular organism", "multicellular organism", - "abnormality of renal system physiology", - "programmed DNA elimination by chromosome breakage", - "Anorectal anomaly", - "organism subdivision", - "thoracic cavity element", - "Abnormality of the kidney", - "abnormality of internal male genitalia physiology", - "abnormal gamete generation", - "cavitated compound organ", - "abnormal kidney", - "body proper", + "hematopoietic system", + "Abnormal growth hormone level", + "Aplasia/hypoplasia involving the skeleton", + "abnormal anatomical entity morphology in the appendage girdle complex", + "bone of appendage girdle complex", + "anatomical wall", + "abnormal anatomical entity morphology in the pectoral complex", + "cerebellum", + "decreased biological_process", + "radius bone hypoplasia", "aplasia or hypoplasia of anatomical entity", - "forelimb zeugopod bone", - "quality", - "abdomen element", - "subdivision of trunk", - "genitourinary system", - "negative regulation of cellular biosynthetic process", - "anatomical system", - "palmar part of manus", - "abnormal anatomical entity morphology in the palmar part of manus", - "Aplasia/hypoplasia involving bones of the extremities", - "alimentary part of gastrointestinal system atresia", - "abnormal genitourinary system", - "Renal cyst", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "abnormally formed cerebellum", "Abnormal forearm bone morphology", - "regulation of cellular metabolic process", - "regulation of biological process", - "Abnormal thumb morphology", - "arm", - "abnormal limb morphology", - "bone element hypoplasia in independent continuant", - "abnormal anatomical entity morphology", - "primary metabolic process", - "cellular component organization", - "abnormal kidney morphology", - "system", - "negative regulation of macromolecule metabolic process", - "organic substance metabolic process", - "abnormal DNA metabolic process", - "abnormal chromatin organization", - "forelimb", - "embryo", - "appendage", - "musculature of manus", - "material anatomical entity", - "anus atresia", - "abdomen", - "changed biological_process rate", - "abnormal metabolic process", - "abnormal renal pelvis morphology", - "chromatin organization", - "abnormal renal system", - "abnormal musculature", - "abnormal appendicular skeleton morphology", - "Eumetazoa", - "segment of autopod", - "negative regulation of metabolic process", - "nucleobase-containing compound metabolic process", - "abnormal skeletal system morphology", - "obsolete cell", - "deviation of anatomical entity", - "absent sperm in the independent continuant", - "internal male genitalia", + "abnormal metencephalon morphology", + "Abnormality of the skeletal system", + "Microcephaly", + "Abnormality of the musculoskeletal system", + "pituitary gland", + "abnormal nervous system morphology", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "abnormal cell morphology", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "abnormally increased number of anatomical entity in the abdomen", + "abnormal arm", + "radius endochondral element", + "Aplasia/hypoplasia involving forearm bones", + "Neurodegeneration", + "multicellular organismal process", + "ventricular system of brain", + "anatomical entity hypoplasia in independent continuant", + "organism subdivision", + "organ", "occurrent", - "regulation of cellular process", - "regulation of gene expression", - "intestine atresia", - "abnormal nitrogen compound metabolic process", - "appendage girdle complex", - "abnormal anatomical entity topology in independent continuant", + "glandular system", + "skeletal system", + "Abnormal cerebellum morphology", + "upper limb segment", + "appendicular skeleton", + "abnormal upper urinary tract", + "Limb undergrowth", + "abnormal head", + "arm", "limb segment", - "cellular process", - "forelimb zeugopod", - "cellular metabolic process", + "adenohypophysis", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "decreased size of the radius bone", + "Abnormal cellular phenotype", + "abnormal development of anatomical entity", + "subdivision of trunk", + "Abnormal thumb morphology", + "phenotype by ontology source", + "abnormal endocrine gland morphology", + "digit 1 plus metapodial segment", "abnormal skeletal system", - "Abnormal fetal morphology", - "macromolecule metabolic process", - "bone of pectoral complex", - "abnormal upper urinary tract", - "specifically dependent continuant", + "Abnormal upper limb bone morphology", + "quality", + "decreased biological_process in multicellular organism", + "manual digit 1", + "autopodial extension", + "organ part", "subdivision of tube", - "regulation of metabolic process", - "organic cyclic compound metabolic process", - "obsolete cellular aromatic compound metabolic process", - "abnormal anatomical entity morphology in the manus", - "kidney", - "absent anatomical entity in the forelimb", - "appendicular skeleton", - "All", - "pectoral appendage skeleton", - "Abnormal cellular phenotype", - "abnormal number of anatomical enitites of type sperm", - "Abnormality of the musculature", - "abnormal manual digit morphology in the manus", - "abnormal anatomical entity morphology in the pectoral complex", - "nucleic acid metabolic process", - "decreased size of the anatomical entity in the independent continuant", - "metabolic process", - "decreased size of the radius bone", - "abnormal phenotype by ontology source", - "negative regulation of cellular metabolic process", - "abnormal long bone morphology", - "entity", - "deviation of manual digit 1", - "internal anal region", - "protein-containing complex organization", - "Chromosome breakage", - "Abnormality of the urinary system", - "anatomical structure", - "Abnormality of metabolism/homeostasis", + "reproductive organ", + "abnormal skull morphology", + "Short long bone", + "reproductive gland", + "Abnormality of the upper limb", + "Duodenal atresia", + "Neoplasm by anatomical site", + "alimentary part of gastrointestinal system atresia", + "abnormal cerebral hemisphere morphology", + "arm bone", + "Intestinal atresia", + "Abnormality of the gastrointestinal tract", + "Abnormality of the digestive system", + "abnormal limb long bone morphology", + "abnormal small intestine morphology", + "abnormal forelimb morphology", + "abnormal digestive system morphology", + "digestive system element", + "abnormal alimentary part of gastrointestinal system", + "abnormal biological_process in nervous system", + "Morphological abnormality of the gastrointestinal tract", + "abnormal gland morphology", + "tube", + "abnormal hormone independent continuant level", + "brain white matter", + "abnormal developmental process", "intestine", - "abnormal programmed DNA elimination by chromosome breakage", - "lower digestive tract", - "renal system", - "Upper limb undergrowth", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "anatomical conduit", - "deviation of manual digit", - "obsolete nitrogen compound metabolic process", - "Abnormality of the upper urinary tract", - "regulation of cellular biosynthetic process", - "independent continuant", - "abnormal organelle organization", - "excretory system", - "negative regulation of cellular process", - "anatomical entity hypoplasia", - "terminal part of digestive tract", + "upper urinary tract", + "manual digitopodium region", + "Abnormality of blood and blood-forming tissues", + "duodenum", + "intestine atresia", + "Abnormal endocrine physiology", + "digestive tract", + "Neoplasm", + "decreased qualitatively biological_process in independent continuant", + "Abnormal intestine morphology", + "regulation of biological quality", + "Abnormal pituitary gland morphology", + "abnormal cerebral subcortex morphology", + "midface hypoplasia", + "Abnormal small intestine morphology", + "abnormal digestive system", + "metencephalon", + "abnormal closing of the anatomical entity", + "abnormal small intestine", + "anatomical entity atresia", + "abnormality of anatomical entity physiology", + "abnormal hematopoietic system", + "hemolymphoid system", + "Myelodysplasia", + "cell communication", + "biological_process", + "process", + "delayed growth", + "axial skeletal system", + "abnormal adenohypophysis", "Growth abnormality", - "abnormal renal system morphology", - "abnormal developmental process involved in reproduction", - "Abnormal external genitalia", - "muscle structure", - "programmed DNA elimination", - "heart", - "upper limb segment", - "limb endochondral element", + "aplasia or hypoplasia of manual digit", + "face", + "kidney", + "Growth delay", + "abnormal biological_process", + "abnormal role bodily fluid level", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "increased size of the brain ventricle", + "increased size of the anatomical entity in independent continuant", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "organ component layer", + "ventricular system of central nervous system", + "paired limb/fin segment", + "Ventriculomegaly", + "abnormal brain ventricle morphology", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "abnormal brain ventricle/choroid plexus morphology", + "decreased length of forelimb zeugopod bone", + "brain ventricle", + "changed biological_process rate", + "abnormal embryo development", "anatomical entity", - "Abnormal palm morphology", - "abnormal autopod region morphology", - "absent germ cell", - "forelimb endochondral element", - "DNA metabolic process", - "manus", - "abnormal primary metabolic process", - "reproductive system", - "abnormal testis morphology", - "Fetal pyelectasis", - "negative regulation of biosynthetic process", - "absent digit", + "decreased qualitatively biological_process", + "decreased embryo development", + "spleen", + "Abnormality of the immune system", + "vascular system", + "lymphatic part of lymphoid system", + "abnormal genitourinary system", + "changed developmental process rate", + "abnormal vasculature", + "Polysplenia", + "anatomical cluster", + "manual digit 1 plus metapodial segment", + "abdomen", "abdominal segment element", - "obsolete heterocycle metabolic process", - "organelle organization", - "absent anatomical entity in the limb", - "Abnormality of the upper limb", - "Abnormality of digestive system morphology", - "negative regulation of biological process", - "negative regulation of gene expression", + "viscus", + "Supernumerary spleens", + "transport", + "abnormal immune system", + "abnormal hematopoietic system morphology", + "abnormal hindbrain morphology", + "gland", + "abnormal cell", + "disconnected anatomical group", + "abnormally increased number of anatomical entity", + "white matter of telencephalon", + "bone marrow cell", + "circulatory system", + "immune system", + "Abnormal spleen morphology", + "chemical entity", + "cardiovascular system", + "abnormal lymphatic part of lymphoid system", + "peptide secretion", + "abnormal spleen", + "central nervous system cell part cluster", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormality of the abdominal organs", + "anatomical conduit", + "abnormal limb morphology", + "Abnormality of the spleen", + "abdomen element", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "changed biological_process rate in brain", + "abnormally increased number of spleen", + "abnormal transport", + "abnormally increased number of anatomical entity in the independent continuant", + "Anterior hypopituitarism", + "peptide hormone secretion", + "neuroendocrine system", + "absent anatomical entity", + "decreased biological_process in independent continuant", + "abnormal bone marrow morphology", + "abnormal hypothalamus-pituitary axis", + "Abnormal metencephalon morphology", + "non-connected functional system", + "abnormality of endocrine system physiology", + "Decreased response to growth hormone stimulation test", + "regulation of biological process", + "signaling", + "hypothalamus-pituitary axis", + "malformed anatomical entity", + "aplastic anatomical entity", + "nitrogen compound transport", + "Abnormal cerebral white matter morphology", + "Abnormal response to endocrine stimulation test", + "Abnormality of bone marrow cell morphology", + "Abnormality of the endocrine system", + "abnormal cellular process", + "hindbrain", + "abnormal endocrine system", + "multi-tissue structure", + "bodily fluid", + "abnormal diencephalon morphology", + "ventricle of nervous system", + "abnormal role independent continuant level", + "decreased size of the anatomical entity", + "Abnormality of the anterior pituitary", + "abnormal biological_process in independent continuant", + "Abnormality of the diencephalon", + "organism substance", + "gland of diencephalon", + "abnormal pituitary gland morphology", + "abnormal size of brain ventricle", + "abnormal secretion by cell", + "decreased biological_process in brain", + "abnormal independent continuant chemical entity level", + "manual digit 1 or 5", + "developmental process", + "decreased growth hormone secretion", + "abnormal endocrine system morphology", + "decreased secretion in independent continuant", + "abnormal bone of pectoral complex morphology", + "decreased qualitatively biological_process in central nervous system", + "abnormal anatomical entity morphology in the manus", + "abnormal role blood level", + "reproductive structure", + "neuroendocrine gland", + "Abnormal circulating hormone concentration", + "endochondral element", + "abnormal neuroendocrine gland morphology", + "abnormal cardiovascular system", + "export from cell", + "signal release", + "abnormal brain morphology", + "hormone transport", + "endocrine gland", + "cranial skeletal system", + "decreased biological_process in pituitary gland", + "abdominal segment of trunk", + "biological regulation", + "abnormal size of skull", + "forelimb long bone", + "amide transport", + "abnormal multicellular organism chemical entity level", + "Aplasia/Hypoplasia of the thumb", + "decreased secretion in pituitary gland", + "hematopoietic cell", + "growth hormone secretion", + "anatomical entity degeneration in independent continuant", + "establishment of localization", + "cell-cell signaling", + "Abnormal periventricular white matter morphology", + "multi cell part structure", + "cellular process", + "cerebral hemisphere white matter", + "subdivision of head", + "appendage girdle complex", + "abnormal megakaryocyte morphology", + "forebrain", + "white matter of forebrain", + "midface", + "white matter", + "diencephalon", + "abnormal radius bone morphology", + "embryo development", + "cerebral hemisphere white matter degeneration", + "abnormal cerebral hemisphere white matter morphology", + "anatomical entity degeneration", + "Abnormal finger morphology", + "Atrophy/Degeneration affecting the central nervous system", + "decreased length of long bone", + "digestive system", + "Cerebellar malformation", + "organ subunit", + "segmental subdivision of nervous system", + "abnormally formed anatomical entity in independent continuant", + "abnormally formed anatomical entity", + "myeloid cell", + "Megakaryocyte dysplasia", + "Abnormal megakaryocyte morphology", + "trunk", + "abnormal bone marrow cell", ], }, { - "id": "MONDO:0013565", + "id": "MONDO:0013248", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group G", - "xref": ["DOID:0111086", "GARD:15753", "NCIT:C125708", "OMIM:614082"], + "name": "Fanconi anemia complementation group O", + "xref": ["DOID:0111096", "GARD:15656", "OMIM:613390", "UMLS:C3150653"], "provided_by": "phenio_nodes", - "description": "Fanconi anemia caused by mutations of the FANCG gene.", + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.", "synonym": [ - "FANCG", - "Fanconi Anemia, complementation group type G", - "Fanconi anaemia complementation group type G", - "Fanconi anemia complementation group G", - "Fanconi anemia complementation group type G", - "Fanconi anemia, complementation group G", + "FANCO", + "Fanconi Anemia, complementation group type O", + "Fanconi anaemia caused by mutation in RAD51C", + "Fanconi anaemia caused by mutation in Rad51C", + "Fanconi anaemia complementation group type O", + "Fanconi anemia caused by mutation in RAD51C", + "Fanconi anemia caused by mutation in Rad51C", + "Fanconi anemia complementation group type O", + "Fanconi anemia, complementation group O", + "RAD51C Fanconi anaemia", + "RAD51C Fanconi anemia", + "Rad51C Fanconi anaemia", + "Rad51C Fanconi anemia", ], "namespace": "MONDO", "has_phenotype": [ - "HP:0001875", - "HP:0002863", - "HP:0000252", - "HP:0001510", - "HP:0001873", - "HP:0007565", - "HP:0000568", - "HP:0001172", - "HP:0001903", - "HP:0003220", - "HP:0001909", + "HP:0040012", + "HP:0002984", + "HP:0009777", + "HP:0001627", + "HP:0001245", + "HP:0002023", + "HP:0000126", + "HP:0000028", + "HP:0009778", + "HP:0009623", + "HP:0000107", + "HP:0003241", + "HP:0004322", + "HP:0003774", + "HP:0025023", ], "has_phenotype_label": [ - "Neutropenia", - "Myelodysplasia", - "Microcephaly", - "Growth delay", - "Thrombocytopenia", - "Multiple cafe-au-lait spots", - "Microphthalmia", - "Abnormal thumb morphology", - "Anemia", - "Abnormality of chromosome stability", - "Leukemia", + "Chromosome breakage", + "Hypoplasia of the radius", + "Absent thumb", + "Abnormal heart morphology", + "Small thenar eminence", + "Anal atresia", + "Hydronephrosis", + "Cryptorchidism", + "Short thumb", + "Proximal placement of thumb", + "Renal cyst", + "External genital hypoplasia", + "Short stature", + "Stage 5 chronic kidney disease", + "Rectal atresia", ], - "has_phenotype_count": 11, + "has_phenotype_count": 15, "has_phenotype_closure": [ - "GO:0005623", - "UPHENO:0088162", - "CL:0000329", - "CL:0000764", - "CL:0000232", - "UPHENO:0086700", - "UPHENO:0002896", - "UBERON:5002544", - "UBERON:0010707", - "HP:0003220", - "UBERON:0004708", - "HP:0001167", - "UBERON:0010740", + "NCBITaxon:33154", + "HP:0002242", + "UPHENO:0002714", + "UPHENO:0087006", + "NCBITaxon:2759", "UBERON:5001463", - "UBERON:0002529", + "UPHENO:0009382", + "UBERON:0008837", + "UPHENO:0002905", + "HP:0000077", + "UBERON:0002544", + "UPHENO:0086700", + "UPHENO:0026506", + "UBERON:0019221", + "UPHENO:0081466", "UBERON:0004765", - "HP:0040064", - "HP:0002817", - "UPHENO:0076740", + "UBERON:0000467", + "UBERON:0001015", + "UPHENO:0080114", + "HP:0001155", + "UBERON:0015001", + "UPHENO:0005433", + "UPHENO:0008523", + "UPHENO:0006910", + "UBERON:0005451", + "UBERON:0001442", + "HP:0000001", + "UPHENO:0018390", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0002101", + "UPHENO:0075195", + "UPHENO:0086132", + "HP:0006501", "UBERON:0008785", - "UBERON:0002470", - "UPHENO:0002905", + "GO:0010558", + "UPHENO:0002786", + "UBERON:0004710", + "UPHENO:0075893", + "UPHENO:0050108", + "HP:0000107", + "UBERON:0004708", + "UBERON:0000061", + "GO:1901360", + "GO:0032504", + "UPHENO:0075159", + "HP:0040070", + "HP:0033127", + "UBERON:0001630", + "HP:0011425", "UBERON:0012140", - "UPHENO:0086635", - "UBERON:0002101", - "UPHENO:0002830", - "UPHENO:0002880", - "UBERON:0002091", - "UBERON:0004381", - "UBERON:0002428", - "UBERON:0002102", - "UBERON:0004375", - "UPHENO:0076727", "UBERON:0010363", + "GO:0044237", "UBERON:0001474", - "UBERON:0002544", - "UBERON:5002389", - "UBERON:5006048", + "GO:0006259", + "UBERON:0002100", + "UPHENO:0082875", "UBERON:0010708", - "UPHENO:0076724", - "HP:0001155", - "UPHENO:0087006", - "UPHENO:0086633", "UPHENO:0084766", - "UBERON:0001444", - "HP:0005922", - "UBERON:0000019", - "UBERON:0004456", - "UBERON:0000020", - "UPHENO:0068971", - "HP:0000568", - "UPHENO:0021474", - "HP:0000315", - "UBERON:0001032", - "UPHENO:0003020", - "UPHENO:0075219", - "UPHENO:0075997", - "HP:0012130", - "UBERON:0001463", - "UBERON:0004088", - "HP:0007565", - "UBERON:0005881", - "HP:0001000", - "UBERON:0005451", - "HP:0011355", - "UPHENO:0088170", - "UBERON:0002199", - "UBERON:0002416", - "UPHENO:0054970", - "HP:0011017", - "UPHENO:0080377", - "HP:0000951", - "HP:0001034", - "HP:0012733", - "UBERON:0011582", - "HP:0001574", - "HP:0001172", - "UPHENO:0074584", - "HP:0011121", - "UPHENO:0074572", - "HP:0000957", - "UPHENO:0074575", - "UPHENO:0054957", - "UPHENO:0076739", - "UPHENO:0086173", - "HP:0001872", - "CL:0000458", - "UPHENO:0086049", - "HP:0011873", + "GO:0046483", "UBERON:0015212", - "CL:0000233", - "UBERON:0012141", - "UPHENO:0086005", - "UPHENO:0049587", - "HP:0001507", - "UPHENO:0080662", - "GO:0040007", + "UBERON:0013765", + "UBERON:0012139", "UPHENO:0012541", - "UPHENO:0049874", - "UPHENO:0000543", - "UPHENO:0002948", - "UPHENO:0080079", - "BFO:0000015", - "UPHENO:0002910", - "UBERON:0010230", - "NCBITaxon:33208", - "UPHENO:0085070", - "NCBITaxon:1", - "NCBITaxon:131567", - "UBERON:0011676", - "UPHENO:0084761", - "UBERON:0000468", - "NCBITaxon:2759", - "UPHENO:0074589", - "UBERON:0002616", - "BFO:0000003", - "UBERON:0010314", - "UBERON:0000062", - "UPHENO:0003811", - "UPHENO:0076702", - "UPHENO:0076805", + "UBERON:0002204", + "UPHENO:0020041", + "UBERON:0003460", + "UPHENO:0001002", + "HP:0009601", + "UBERON:0003607", + "UBERON:0001423", + "HP:0009826", + "UBERON:0002529", + "UBERON:0006717", + "UPHENO:0001003", + "UPHENO:0076727", "UPHENO:0084763", - "UBERON:0002398", - "UPHENO:0085302", - "UPHENO:0075220", - "HP:0002813", - "UPHENO:0076791", - "GO:0008150", - "UBERON:0003129", - "HP:0040068", - "UPHENO:0087907", - "RO:0002577", - "UBERON:0000955", - "UBERON:0004121", - "UBERON:0002097", - "UBERON:0001890", - "HP:0000152", - 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"UPHENO:0065599", + "HP:0034058", + "UBERON:0000064", + "UBERON:0001008", + "UPHENO:0015280", + "GO:0016043", + "UPHENO:0075902", + "HP:0010946", + "UPHENO:0080382", + "GO:0048609", + "GO:0003006", + "UBERON:0001224", + "HP:0001197", + "UBERON:0000922", + "HP:0010945", + "UPHENO:0075949", + "UPHENO:0002332", + "HP:0012874", + "UPHENO:0084132", + "UPHENO:0076718", + "UPHENO:0005651", + "HP:0003241", + "HP:0010935", + "UPHENO:0049940", + "HP:0000119", + "UBERON:0007100", + "UPHENO:0005016", + "UBERON:0000323", + "UPHENO:0087427", + "HP:0034242", + "UBERON:8450002", + "UBERON:0000916", + "UBERON:0002417", + "UBERON:0005173", + "OBI:0100026", + "UPHENO:0001072", "UBERON:0034923", - "BFO:0000040", - "UPHENO:0076675", - "CL:0000081", - "UPHENO:0087518", - "HP:0004377", - "UBERON:0019231", - "UBERON:0011249", - "UPHENO:0085076", - "HP:0000953", - "UPHENO:0087089", + "UPHENO:0084834", + "UBERON:0004054", + "UBERON:0008962", + "UBERON:0001463", + "HP:0012210", + "UPHENO:0076779", + "UBERON:0010538", + "UPHENO:0001478", + "UBERON:0010712", + "HP:0000080", + "UPHENO:0077426", + "UBERON:0000079", + "UPHENO:0086201", + "UPHENO:0085873", + "CL:0000586", + "HP:0000028", + "UPHENO:0081423", + "UBERON:0008878", + "UBERON:0005409", + "HP:0001627", + "UPHENO:0049970", + "UPHENO:0003055", + "UBERON:0005156", + "GO:0000003", + "HP:0000811", + "HP:0012243", + "UPHENO:0085194", + "HP:0001172", + "HP:0002973", + "UBERON:0011676", + "HP:0000025", + "UPHENO:0049985", + "HP:0010944", + "HP:0001510", + "UPHENO:0086023", + "UPHENO:0080369", + "CL:0000408", + "GO:0007283", + "UBERON:0000481", "UBERON:0004288", - "UBERON:0012354", - "UBERON:0002390", - "UBERON:0000465", - "HP:0020047", - "UBERON:0000026", - "UPHENO:0087924", - "UPHENO:0001003", - ], - "has_phenotype_closure_label": [ - "Leukemia", - "Abnormality of metabolism/homeostasis", - "oxygen accumulating cell", - "Anemia", - "abnormal erythroid lineage cell morphology", - "abnormal erythrocyte morphology", - "subdivision of organism along appendicular axis", - "forelimb", - "paired limb/fin", - "Abnormal appendicular skeleton morphology", - "pectoral appendage", - "abnormal anatomical entity morphology in the pectoral complex", - "erythrocyte", - "abnormal digit morphology", - "abnormal manus", - "digitopodium region", - "manual digit 1", - "digit 1 plus metapodial segment", - "limb bone", - "abnormal limb", - "abnormal arm", - "Abnormal digit morphology", - "abnormal forelimb morphology", - "autopodial extension", - "digit plus metapodial segment", - "abnormal limb bone morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormal thumb morphology", - "abnormal appendicular skeleton morphology", - "segment of autopod", - "upper limb segment", - "Abnormal erythroid lineage cell morphology", - "manual digit 1 or 5", - "Abnormal hand morphology", - "abnormal manual digit morphology in the independent continuant", - "Abnormal cellular physiology", - "appendage girdle complex", - "limb segment", - "digit 1 or 5", - "endochondral bone", - "bone of appendage girdle complex", - "manual digit", - "Abnormality of limb bone morphology", - "Abnormality of the upper limb", - "Abnormal finger morphology", - "eye", - "orbital region", - "bone of free limb or fin", - "decreased size of the anatomical entity in the independent continuant", - "abnormal size of eyeball of camera-type eye", - "Microphthalmia", - "subdivision of head", - "entire sense organ system", - "Abnormality of the orbital region", - "Abnormal eye morphology", - "eyeball of camera-type eye", - "camera-type eye", - "digit 1", - "simple eye", - "lateral structure", - "Abnormal erythrocyte morphology", - "decreased size of the eyeball of camera-type eye", - "Abnormality of globe size", - "abnormal face", - "integumental system", - "pigmentation", - "manual digitopodium region", - "Macule", - "Abnormality of the integument", - "abnormal pigmentation", - "increased pigmentation in independent continuant", - "Hyperpigmentation of the skin", - "increased qualitatively biological_process in independent continuant", - "Abnormality of chromosome stability", - "Abnormality of skin morphology", - "Abnormality of the skin", - "increased biological_process", - "changed biological_process rate", - "abnormal integument", - "increased biological_process in skin of body", - "increased pigmentation", - "Hypermelanotic macule", - "abnormal pigmentation in independent continuant", - "abnormal biological_process in independent continuant", + "UPHENO:0002830", + "UBERON:0015228", + "CL:0000015", + "UPHENO:0002597", + "GO:0007276", + "UBERON:0000991", + "HP:0011024", + "UBERON:0011216", + "UBERON:0004175", + "UBERON:0004176", + "HP:0008669", + "UBERON:0003606", + "UPHENO:0021561", + "HP:0000035", + "HP:0004322", + "UPHENO:0087973", + "UPHENO:0086198", + "UBERON:0004122", + "UPHENO:0002595", + "CL:0000413", + "CL:0000039", + "GO:0050794", + "UPHENO:0085875", + "UBERON:0014793", + "HP:0009603", + "UBERON:0004111", + "UPHENO:0080377", + "HP:0000032", + "UPHENO:0078729", + "UBERON:0000463", + "UPHENO:0076735", + "UPHENO:0078452", + "UPHENO:0053298", + "UBERON:0001052", + "UBERON:0005090", + "HP:0000078", + "HP:0012622", + "UBERON:0001968", + "UBERON:0005177", + "HP:0011277", + "UBERON:0000473", + "UBERON:0004053", + "UPHENO:0002598", + "UPHENO:0049367", + "UPHENO:0046411", + "UPHENO:0046707", + "HP:0009381", + "UPHENO:0011498", + "UBERON:0004381", + "UPHENO:0046624", + "HP:0009623", + "UBERON:0012361", + "HP:0004097", + "UPHENO:0050101", + "UBERON:0001353", + "HP:0009484", + "UPHENO:0084829", + "UPHENO:0080351", + "GO:0010468", + "UPHENO:0000541", + "UBERON:0003466", + "UPHENO:0069254", + "UPHENO:0076740", + "HP:0100871", + "HP:0000002", + "HP:0001507", + "UPHENO:0049874", + "UPHENO:0000543", + "UBERON:0013522", + "HP:0012211", + "UPHENO:0002411", + "HP:0003774", + "UPHENO:0076773", + "HP:0002589", + "UPHENO:0063629", + "HP:0011100", + "HP:0012732", + "NCBITaxon:1", + "UPHENO:0084124", + "UPHENO:0087346", + "HP:0009777", + "UBERON:0004921", + "UBERON:0000160", + "HP:0002034", + "UPHENO:0002725", + "HP:0012718", + "HP:0025023", + ], + "has_phenotype_closure_label": [ + "rectum atresia", + "abnormal rectum", + "Abnormal intestine morphology", + "lower digestive tract", + "intestine", + "rectum", + "internal anal region", + "abnormal alimentary part of gastrointestinal system", + "Anorectal anomaly", + "Abnormality of the gastrointestinal tract", + "Morphological abnormality of the gastrointestinal tract", + "large intestine", + "subdivision of tube", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "Metazoa", + "Rectal atresia", + "abnormal alimentary part of gastrointestinal system morphology", + "Chronic kidney disease", + "Abnormal renal physiology", + "Renal insufficiency", + "Abnormality of the urinary system physiology", + "Intestinal atresia", + "non-functional kidney", + "growth", + "decreased height of the anatomical entity", + "digestive system element", + "Growth delay", + "decreased size of the multicellular organism", + "Abnormality of body height", + "Renal cyst", + "deviation of manual digit", + "intestine atresia", + "Proximal placement of thumb", + "Eukaryota", + "Eumetazoa", + "decreased length of manual digit", + "decreased length of manual digit 1", + "Short digit", + "Short finger", + "developmental process", + "reproductive process", + "abnormally localised testis", + "abnormal anatomical entity topology in independent continuant", + "abnormal male reproductive system morphology", + "Abnormality of male external genitalia", + "developmental process involved in reproduction", + "abnormally localised anatomical entity", + "abnormal reproductive system", + "absent gamete", + "sperm", + "male organism", + "reproductive structure", + "abnormal reproductive process", + "decreased qualitatively developmental process", + "testis", + "internal male genitalia", + "abnormal multicellular organismal reproductive process", + "abnormal number of anatomical enitites of type sperm", + "Azoospermia", + "Abnormality of the male genitalia", + "male germ cell", + "abnormality of multicellular organism height", + "male gamete", + "abnormally localised anatomical entity in independent continuant", + "abnormal large intestine morphology", + "absent sperm in the independent continuant", + "organism substance", + "semen", + "abnormal male reproductive system", + "male reproductive system", + "reproduction", + "abnormal location of anatomical entity", + "abnormal developmental process involved in reproduction", + "decreased developmental process", + "reproductive organ", + "spermatogenesis", + "gamete generation", + "absent anatomical entity in the semen", + "abnormal gamete", "abnormal number of anatomical enitites of type cell", - "increased qualitatively biological_process", - "manual digit 1 plus metapodial segment", - "sense organ", - "Abnormal cellular immune system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal platelet morphology", - "biogenic amine secreting cell", - "abnormal hematopoietic cell morphology", - "anucleate cell", - "arm", - "abnormal face morphology", - "secretory cell", - "serotonin secreting cell", - "system", - "Abnormality of the hand", - "abnormally decreased number of platelet", - "abnormal platelet", - "Abnormal myeloid cell morphology", - "biological_process", - "skeleton of limb", - "nervous system", - "Growth abnormality", + "external genitalia", + "internal genitalia", + "gonad", + "Abnormality of the genital system", + "abnormal internal genitalia", + "germ cell", + "Abnormality of reproductive system physiology", + "gamete", + "obsolete multicellular organism reproduction", + "absent sperm", + "abnormality of reproductive system physiology", + "abnormal spermatogenesis", + "changed biological_process rate", + "absent germ cell", + "abnormal renal system morphology", + "Abnormality of prenatal development or birth", + "multi-tissue structure", + "External genital hypoplasia", + "abnormally dilated anatomical entity", + "kidney", + "sexual reproduction", + "abnormal genitourinary system", + "increased size of the renal pelvis", + "late embryo", + "abnormal renal system", + "Abnormal renal morphology", + "embryo", + "renal pelvis", + "Abnormality of the kidney", + "renal pelvis/ureter", + "disconnected anatomical group", + "abdominal segment of trunk", + "abdomen", + "decreased length of digit", + "anatomical cluster", + "Abnormality of the upper urinary tract", + "renal system", + "Abnormal fetal genitourinary system morphology", + "organ part", + "increased size of the anatomical entity in independent continuant", + "Abnormal fetal morphology", + "Abnormal renal pelvis morphology", + "abnormally dilated renal pelvis", + "abnormal late embryo", + "Fetal pyelectasis", + "abnormal renal pelvis", + "abnormal renal pelvis morphology", + "abnormal external male genitalia", + "Fetal anomaly", + "upper urinary tract", + "Anal atresia", + "Dilatation of the renal pelvis", + "anus atresia", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "abnormal anus", + "abnormal closing of the anatomical entity", + "abnormal digestive system", + "deviation of manual digit 1", + "digestive tract", + "multicellular organismal reproductive process", + "anatomical conduit", + "anus", + "abnormal digestive system morphology", + "Neoplasm by anatomical site", + "digestive system", + "abnormality of male reproductive system physiology", + "abnormal developmental process", + "tube", + "abnormal muscle organ morphology", + "musculature of upper limb", + "haploid cell", + "appendage musculature", + "musculature of body", + "Abnormality of the musculature of the upper limbs", + "cavitated compound organ", + "abnormal musculature of upper limb", + "Abnormality of the musculature of the limbs", + "Abnormality of the musculature of the hand", + "germ line cell", + "thenar eminence hypoplasia", + "Abnormal palm morphology", + "musculature", + "Abnormality of the thenar eminence", + "abnormal musculature of limb", + "Abnormal rectum morphology", + "Abnormal testis morphology", + "Abnormal skeletal muscle morphology", + "musculature of manus", + "abnormal musculature", + "abnormal heart morphology", + "Cryptorchidism", + "heart plus pericardium", + "Abnormal heart morphology", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "Fetal ultrasound soft marker", + "excretory system", + "circulatory system", "body proper", - "Abnormality of brain morphology", - "manus", - "Abnormal cell morphology", - "Abnormal forebrain morphology", - "Aplasia/Hypoplasia of the cerebrum", - "increased pigmentation in skin of body", - "material entity", - "abnormal blood cell morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "organ", - "organism subdivision", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormal nervous system morphology", - "abnormal telencephalon morphology", - "quality", + "abnormal cardiovascular system morphology", + "circulatory organ", + "viscus", + "Gastrointestinal atresia", + "trunk", + "limb endochondral element", + "subdivision of digestive tract", + "delayed biological_process", + "Short forearm", + "increased size of the anatomical entity", + "abnormal limb bone", + "limb bone", + "abnormal number of anatomical enitites of type anatomical entity", + "Deviation of the thumb", + "Abnormal male reproductive system physiology", + "subdivision of organism along appendicular axis", + "radius bone hypoplasia", + "Functional abnormality of male internal genitalia", + "abnormal anatomical entity morphology in the pectoral complex", "aplasia or hypoplasia of anatomical entity", - "process", - "cellular organisms", - "multi-tissue structure", - "main body axis", - "delayed growth", - "organism", - "manual digit plus metapodial segment", - "limb skeleton subdivision", - "face", - "Microcephaly", - "immune system", - "abnormal craniocervical region", - "paired limb/fin skeleton", - "Abnormal cerebral morphology", - "pectoral complex", + "abnormal appendicular skeleton morphology", + "endochondral element", + "pectoral appendage", + "Deviation of the hand or of fingers of the hand", + "abnormal primary metabolic process", + "Stage 5 chronic kidney disease", + "abnormal musculature of manus", + "mesoderm-derived structure", + "abnormal forelimb morphology", + "abnormal long bone morphology", + "forelimb zeugopod bone hypoplasia", + "anatomical entity hypoplasia in independent continuant", + "abnormality of internal male genitalia physiology", + "organism subdivision", "Abnormality of the musculoskeletal system", - "anterior region of body", - "paired limb/fin segment", - "abnormally decreased number of neutrophil", - "abnormally decreased number of hematopoietic cell", - "forebrain", - "Abnormality of the eye", - "telencephalon", - "obsolete cell", - "occurrent", - "abnormal skeletal system morphology", - "anatomical collection", - "Abnormality of skull size", - "abnormal skull morphology", - "regional part of brain", - "autopod region", - "decreased size of the anatomical entity", - "abnormal camera-type eye morphology", - "musculoskeletal system", + "Limb undergrowth", + "ectoderm-derived structure", + "structure with developmental contribution from neural crest", + "long bone", + "abnormal testis morphology", + "forelimb zeugopod", + "male reproductive organ", + "cellular component organization or biogenesis", "multicellular anatomical structure", - "skull", - "Eukaryota", - "growth", - "limb", - "abnormal nervous system", - "Abnormal axial skeleton morphology", - "eukaryotic cell", - "abnormal growth", - "abnormal autopod region morphology", - "abnormal head", - "erythroid lineage cell", - "abnormal size of anatomical entity", - "abnormal number of anatomical enitites of type platelet", - "abnormal forebrain morphology", - "Growth delay", - "Abnormality of limbs", + "forelimb endochondral element", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "decreased length of anatomical entity in independent continuant", + "skeleton of pectoral complex", + "abnormal anus morphology", + "Abnormality of metabolism/homeostasis", + "musculature of limb", + "negative regulation of biosynthetic process", + "decreased length of forelimb zeugopod bone", + "orifice", + "DNA metabolic process", + "regulation of macromolecule biosynthetic process", + "alimentary part of gastrointestinal system", + "Abnormal reproductive system morphology", + "muscle organ", + "abnormal anatomical entity length", + "musculature of pectoral complex", + "thoracic cavity element", + "multicellular organism", + "absent anatomical entity in the multicellular organism", + "abnormal organelle organization", + "cellular organisms", + "Abnormality of the musculature", + "thoracic segment of trunk", + "abnormal digit", + "programmed DNA elimination", + "digit", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormality of anatomical entity height", + "bone of appendage girdle complex", + "metabolic process", + "multi-limb segment region", + "abnormal cellular process", "root", - "Abnormal neutrophil count", - "abnormal central nervous system morphology", - "abnormal size of skull", - "head", - "abnormally decreased number of granulocyte", - "organ system subdivision", - "Abnormal skull morphology", - "sensory system", - "skeletal system", - "regional part of nervous system", - "Abnormal granulocyte morphology", - "subdivision of skeleton", - "subdivision of skeletal system", - "ectoderm-derived structure", - "appendicular skeletal system", - "Abnormality of the nervous system", - "changed biological_process rate in independent continuant", - "abnormal craniocervical region morphology", - "Abnormality of limb bone", - "Neoplasm by anatomical site", - "craniocervical region", - "abnormally decreased number of myeloid cell in the independent continuant", - "Neoplasm", - "cranial skeletal system", - "abnormal neutrophil", - "Hematological neoplasm", - "Myelodysplasia", - "abnormal anatomical entity morphology", - "abnormal biological_process", - "Abnormal leukocyte morphology", - "abnormal blood cell", - "segment of manus", - "abnormally decreased number of cell in the independent continuant", - "abnormal immune system morphology", - "nucleate cell", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Abnormal cellular phenotype", - "hematopoietic system", - "blood cell", - "postcranial axial skeletal system", - "appendicular skeleton", - "All", - "Eumetazoa", - "leukocyte", - "abnormal manual digit 1 morphology", + "appendage", + "Abnormal upper limb bone morphology", + "abnormality of kidney physiology", + "negative regulation of cellular biosynthetic process", + "Abnormal internal genitalia", + "regulation of cellular process", + "decreased height of the multicellular organism", + "Short long bone", + "male gamete generation", "skeleton", - "mesoderm-derived structure", - "acropodium region", - "Abnormality of the face", - "abnormal leukocyte morphology", - "abnormal hematopoietic system", - "Decreased head circumference", - "specifically dependent continuant", - "multi-limb segment region", - "Localized skin lesion", - "Abnormal immune system morphology", - "abnormal immune system", - "abnormally decreased number of myeloid cell", - "abnormal head morphology", - "visual system", - "motile cell", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "Cafe-au-lait spot", - "abnormal granulocyte morphology", - "hematopoietic cell", - "abnormal number of anatomical enitites of type leukocyte", - "Aplasia/Hypoplasia affecting the eye", - "protein-containing material entity", - "disconnected anatomical group", - "Neutropenia", - "abnormal skeletal system", - "abnormal manual digit morphology in the manus", - "abnormal cell", - "hemolymphoid system", - "abnormal anatomical entity morphology in the brain", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal manus morphology", + "Abnormal external genitalia", + "negative regulation of biological process", + "abnormal growth", + "independent continuant", + "abnormal intestine morphology", + "aplastic manual digit 1", + "reproductive system", + "organic cyclic compound metabolic process", + "segment of autopod", + "anal region", + "paired limb/fin skeleton", + "Growth abnormality", + "abnormal palmar part of manus morphology", + "programmed DNA elimination by chromosome breakage", + "regulation of gene expression", + "Small thenar eminence", + "obsolete cellular nitrogen compound metabolic process", + "organelle organization", + "Abnormal anus morphology", + "protein-DNA complex organization", + "arm", + "abnormal kidney", + "Abnormality of chromosome stability", + "abnormal manus", "phenotype by ontology source", - "integument", - "abnormal number of anatomical enitites of type anatomical entity", - "metabolic process", - "digit", + "Abnormal thumb morphology", + "abnormal reproductive system morphology", "Phenotypic abnormality", - "postcranial axial skeleton", - "Multiple cafe-au-lait spots", - "myeloid cell", - "increased biological_process in independent continuant", - "abnormal number of anatomical enitites of type granulocyte", - "abnormally decreased number of cell", - "neutrophil", - "abnormal orbital region", - "independent continuant", - "Abnormality of blood and blood-forming tissues", - "anatomical structure", - "Abnormal granulocyte count", + "negative regulation of gene expression", + "Abnormality of the digestive system", + "regulation of macromolecule metabolic process", + "acropodium region", + "anatomical entity", + "palmar part of manus", + "Aplasia/hypoplasia involving the skeleton", + "Deviation of finger", + "negative regulation of metabolic process", + "alimentary part of gastrointestinal system atresia", + "cellular component organization", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abdominal segment element", + "abnormal thenar eminence", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "bone of pectoral complex", "entity", - "abnormal limb morphology", - "brain", - "abnormal myeloid leukocyte morphology", - "Abnormal leukocyte count", - "phenotype", + "subdivision of skeletal system", + "biological_process", + "Abnormal forearm bone morphology", "Abnormality of the skeletal system", - "platelet", - "subdivision of organism along main body axis", - "abnormally decreased number of leukocyte", + "terminal part of digestive tract", + "absent anatomical entity in the limb", "continuant", - "aplasia or hypoplasia of telencephalon", - "Abnormality of the immune system", - "limb endochondral element", - "anatomical entity", - "Abnormal platelet count", - "anatomical system", - "Abnormal platelet morphology", - "Irregular hyperpigmentation", - "central nervous system", - "endochondral element", - "Abnormality of neutrophils", - "cell", - "structure with developmental contribution from neural crest", - "Abnormality of skin pigmentation", - "abnormally decreased number of granulocyte in the independent continuant", - "abnormally decreased number of anatomical entity in the independent continuant", - "axial skeleton plus cranial skeleton", - "Abnormal skeletal morphology", - "abnormal skin of body morphology", - "skeletal element", - "Abnormality of the head", - "abnormal anatomical entity", - "axial skeletal system", - "appendage", + "Abnormality of limbs", + "Short stature", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", + "anatomical entity hypoplasia", + "obsolete heterocycle metabolic process", + "non-functional anatomical entity", + "thoracic segment organ", + "aplasia or hypoplasia of radius bone", + "abnormal spatial pattern of anatomical entity", + "protein-containing complex organization", + "material entity", + "abdomen element", + "negative regulation of cellular metabolic process", + "appendicular skeletal system", + "anatomical structure", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "upper limb segment", + "appendicular skeleton", + "subdivision of organism along main body axis", + "abnormal biological_process", + "abnormal cell", + "macromolecule metabolic process", + "appendage girdle complex", + "Abnormal long bone morphology", + "skeleton of limb", + "muscle structure", "material anatomical entity", - "Morphological central nervous system abnormality", - "abnormal number of anatomical enitites of type myeloid cell", - "Metazoa", - "granulocyte", - "multicellular organism", - "abnormal cell morphology", - "Opisthokonta", - "abnormally decreased number of anatomical entity", - "abnormal eyeball of camera-type eye", - "Abnormality of thrombocytes", - "abnormal axial skeleton plus cranial skeleton morphology", - "Abnormal myeloid leukocyte morphology", - "Thrombocytopenia", - "skin of body", - "non-connected functional system", + "external male genitalia", + "chromatin organization", + "pectoral appendage musculature", + "abnormal metabolic process", + "abnormal forelimb zeugopod morphology", + "cellular metabolic process", + "Non-obstructive azoospermia", + "biological regulation", + "regulation of cellular biosynthetic process", + "forelimb zeugopod skeleton", + "abnormal limb morphology", + "regulation of metabolic process", + "Abnormality of limb bone morphology", + "regulation of cellular metabolic process", + "abnormality of renal system physiology", + "quality", + "regulation of biological process", + "changed developmental process rate", + "lateral structure", + "abnormal anatomical entity morphology in the independent continuant", + "limb segment", + "abnormal anatomical entity morphology in the palmar part of manus", + "subdivision of trunk", "abnormal phenotype by ontology source", - "abnormal skin of body", - "abnormal digit", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal myeloid cell morphology", + "absent manual digit", + "abnormal chromatin organization", + "Chromosome breakage", + "Hypoplasia of the radius", + "paired limb/fin", + "decreased size of the anatomical entity in the independent continuant", + "abnormal size of multicellular organism", + "bone element", + "All", + "anatomical collection", + "abnormal programmed DNA elimination by chromosome breakage", + "negative regulation of cellular process", + "decreased qualitatively reproductive process", + "genitourinary system", + "forelimb skeleton", + "Abnormal cellular physiology", + "organic substance metabolic process", + "obsolete nitrogen compound metabolic process", + "abnormal upper urinary tract", + "musculoskeletal system", + "delayed growth", + "abnormal cardiovascular system", + "skeletal system", + "phenotype", + "nucleobase-containing compound metabolic process", + "absent digit", + "decreased length of long bone", + "primary metabolic process", + "skeletal element", + "zeugopod", + "autopodial extension", + "bone element hypoplasia in independent continuant", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "process", + "nucleic acid metabolic process", + "aplasia or hypoplasia of skeleton", + "forelimb", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal large intestine morphology", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "arm bone", + "abnormal rectum morphology", + "abnormal limb long bone morphology", + "manual digit plus metapodial segment", + "abnormal limb bone morphology", + "radius endochondral element", + "Abnormality of digestive system morphology", + "thenar eminence", + "manus", + "abnormal limb", + "compound organ", + "zeugopodial skeleton", + "obsolete cell", + "limb long bone", + "Abnormality of the urinary system", + "forelimb bone", + "abnormal radius bone morphology", + "system", + "aplasia or hypoplasia of manual digit 1", + "Abnormality of the anus", + "organ system subdivision", + "abnormal gamete generation", + "Abnormal morphology of the radius", + "manual digit", + "Abnormal appendicular skeleton morphology", + "decreased size of the anatomical entity", + "Forearm undergrowth", + "palmar/plantar part of autopod", + "external soft tissue zone", + "Abnormality of limb bone", + "abnormal arm", + "absent anatomical entity in the forelimb", + "occurrent", + "organ", + "heart", + "abnormal manual digit morphology in the manus", + "abnormal DNA metabolic process", + "radius bone", + "deviation of anatomical entity", + "multicellular organismal process", + "obsolete cellular aromatic compound metabolic process", + "Aplasia/hypoplasia involving forearm bones", + "forelimb long bone", + "absent sperm in the semen", + "Hydronephrosis", + "decreased length of anatomical entity", + "Abnormality of cardiovascular system morphology", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "limb", + "cell", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "abnormal forelimb zeugopod bone", + "Upper limb undergrowth", + "limb skeleton subdivision", + "trunk region element", + "pectoral complex", + "Opisthokonta", + "paired limb/fin segment", + "Abnormal cellular phenotype", + "decreased size of the radius bone", + "abnormal skeletal system", + "forelimb zeugopod bone", + "subdivision of skeleton", + "endochondral bone", + "Aplasia/Hypoplasia of the radius", + "abnormal anatomical entity", + "Abnormal forearm morphology", + "abnormal external genitalia", + "abnormal size of anatomical entity", + "anatomical system", + "digit 1", + "aplasia or hypoplasia of manual digit", + "organism", + "autopod region", + "skeleton of manus", + "cardiovascular system", + "manual digitopodium region", "abnormal anatomical entity morphology in the manus", - "delayed biological_process", - "bone element", - "abnormal nervous system morphology", - "Abnormality of head or neck", - "abnormal limb bone", - "abnormal brain morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "abnormal anatomical entity morphology in the independent continuant", - "myeloid leukocyte", + "agenesis of anatomical entity", + "Abnormality of the hand", + "abnormal autopod region morphology", + "bone of free limb or fin", + "Absent thumb", + "anterior region of body", + "aplastic anatomical entity", + "Aplasia/hypoplasia involving bones of the extremities", + "manual digit 1", + "protein-containing material entity", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "cellular process", + "Abnormal digit morphology", + "absent anatomical entity", + "Short thumb", + "abnormal manual digit 1 morphology", + "digit 1 plus metapodial segment", + "abnormal digit morphology", + "digit plus metapodial segment", + "Abnormal finger morphology", + "abnormal male reproductive organ morphology", + "autopodial skeleton", + "Finger aplasia", + "manual digit 1 plus metapodial segment", + "Neoplasm", + "manual digit 1 or 5", + "pectoral appendage skeleton", + "abnormal manus morphology", + "primary circulatory organ", + "digit 1 or 5", + "Aplasia/Hypoplasia of the thumb", + "regulation of biosynthetic process", + "absent anatomical entity in the independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Abnormal spermatogenesis", + "Abnormal hand morphology", + "decreased spermatogenesis", + "abnormal kidney morphology", + "main body axis", ], }, { - "id": "MONDO:0014986", + "id": "MONDO:0010351", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group R", - "xref": ["DOID:0111090", "GARD:16214", "OMIM:617244", "UMLS:C4284093"], + "name": "Fanconi anemia complementation group B", + "xref": [ + "DOID:0111098", + "GARD:15257", + "MESH:C564497", + "NCIT:C125703", + "OMIM:300514", + "UMLS:C1845292", + ], "provided_by": "phenio_nodes", - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene.", + "description": "Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.", "synonym": [ - "FANCR", - "Fanconi Anemia, complementation group R", - "Fanconi Anemia, complementation group type R", - "Fanconi anaemia caused by mutation in RAD51", - "Fanconi anaemia complementation group type R", - "Fanconi anemia caused by mutation in RAD51", - "Fanconi anemia complementation group type R", - "Fanconi anemia, complementation GROUP R", - "RAD51 Fanconi anaemia", - "RAD51 Fanconi anemia", + "FA2", + "FACB", + "FANCB", + "Fanconi Anemia, complementation group type B", + "Fanconi anaemia complementation group type B", + "Fanconi anemia complementation group B", + "Fanconi anemia complementation group type B", + "Fanconi anemia, complementation group B", + "Fanconi anemia, complementation group B, X-linked recessive", + "Fanconi pancytopenia type 2", + "Fanconi pancytopenia, type 2", ], "namespace": "MONDO", "has_phenotype": [ - "HP:0001249", - "HP:0000252", + "HP:0000470", "HP:0009777", + "HP:0002575", + "HP:0001249", "HP:0000238", + "HP:0000369", + "HP:0002101", + "HP:0000815", + "HP:0002247", "HP:0001510", - "HP:0006349", - "HP:0000125", - "HP:0005528", - "HP:0006433", - "HP:0000568", - "HP:0007099", - "HP:0001903", - "HP:0003221", - "HP:0031936", - "HP:0002144", - "HP:0002650", - "HP:0002023", - "HP:0003764", + "HP:0007766", + "HP:0002119", + "HP:0000104", + "HP:0001873", + "HP:0001915", + "HP:0001680", + "HP:0002032", + "HP:0003220", + "HP:0001321", + "HP:0002079", + "HP:0000054", + "HP:0000396", + "HP:0003468", + "HP:0000135", + "HP:0004977", + "HP:0001643", + "HP:0001629", + "HP:0001195", + "HP:0002188", + "HP:0001511", ], "has_phenotype_label": [ - "Intellectual disability", - "Microcephaly", + "Short neck", "Absent thumb", + "Tracheoesophageal fistula", + "Intellectual disability", "Hydrocephalus", + "Low-set ears", + "Abnormal lung lobation", + "Hypergonadotropic hypogonadism", + "Duodenal atresia", "Growth delay", - "Agenesis of permanent teeth", - "Pelvic kidney", - "Bone marrow hypocellularity", - "Radial dysplasia", - "Microphthalmia", - "Chiari type I malformation", - "Anemia", - "Chromosomal breakage induced by crosslinking agents", - "Delayed ability to walk", - "Tethered cord", - "Scoliosis", - "Anal atresia", - "Nevus", + "Optic disc hypoplasia", + "Ventriculomegaly", + "Renal agenesis", + "Thrombocytopenia", + "Aplastic anemia", + "Coarctation of aorta", + "Esophageal atresia", + "Abnormality of chromosome stability", + "Cerebellar hypoplasia", + "Hypoplasia of the corpus callosum", + "Micropenis", + "Overfolded helix", + "Abnormal vertebral morphology", + "Hypogonadism", + "Bilateral radial aplasia", + "Patent ductus arteriosus", + "Ventricular septal defect", + "Single umbilical artery", + "Delayed CNS myelination", + "Intrauterine growth retardation", ], - "has_phenotype_count": 18, + "has_phenotype_count": 30, "has_phenotype_closure": [ - "UBERON:0002416", - "UPHENO:0003811", - "HP:0000951", - "HP:0011121", - "UPHENO:0076739", - 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"UPHENO:0087018", + "UPHENO:0078603", + "UPHENO:0019970", + "GO:0060541", + "UPHENO:0087846", + "UBERON:0001555", + "UPHENO:0088020", + "GO:0030323", + "UPHENO:0063722", + "UBERON:0000171", + "UBERON:0004451", + "UPHENO:0076805", + "UBERON:0000170", + "UBERON:0001004", + "HP:0000315", + "UPHENO:0085189", + "UBERON:0010712", + "HP:0000080", + "UBERON:0003466", + "UBERON:0000949", + "UPHENO:0003055", + "UBERON:0005156", + "UPHENO:0066927", + "UPHENO:0080126", + "UBERON:0015204", "UBERON:0005944", - "UPHENO:0086644", - "UBERON:0011138", - "UPHENO:0002905", - "CL:0000000", - "UPHENO:0085195", - "UBERON:0011137", - "UBERON:0002097", - "UPHENO:0002830", - "HP:0007364", - "UBERON:0005282", - "UBERON:0000075", + "UPHENO:0003020", + "UBERON:0000991", + "UPHENO:0066972", + "HP:0000818", + "UBERON:0000990", + "HP:0009380", + "UPHENO:0074228", + "UPHENO:0002595", + "UBERON:0004122", + "HP:0003241", + "HP:0010935", + "HP:0008373", + "HP:0011004", + "HP:0002242", + "UPHENO:0081091", + "UBERON:0003834", + "HP:0001876", "HP:0000118", - "UBERON:0000475", - "UPHENO:0001001", - "UBERON:0001423", - "UBERON:0002513", + "UPHENO:0024906", + "UPHENO:0018426", + "HP:0000078", + "HP:0002589", + "UPHENO:0076783", + "UBERON:0002090", + "HP:0002247", + "HP:0008058", + "UPHENO:0063639", + "UBERON:0011143", + "UPHENO:0081594", + "UBERON:0002114", + "UBERON:0008962", + "UBERON:0001463", + "HP:0012210", + "HP:0010461", + "UPHENO:0086621", + "UPHENO:0085070", + "HP:0002244", + "HP:0001510", + "HP:0001507", + "UPHENO:0049874", + "UPHENO:0006910", + "UPHENO:0021037", + "UBERON:5001463", + "UPHENO:0021474", + "UPHENO:0021656", + "UBERON:0000063", + "HP:0008057", "UPHENO:0076803", - "NCBITaxon:33154", - "UBERON:0011216", - "BFO:0000015", - "UPHENO:0080079", - "UBERON:0001017", - "HP:0003221", - "BFO:0000004", - "UBERON:0001895", + "HP:0000587", + "UPHENO:0081790", + "HP:0000479", + "HP:0002715", + "UPHENO:0002910", + "HP:0000478", "UBERON:0000073", - "HP:0009380", - "UBERON:0000465", - "UPHENO:0020584", - "UBERON:0000061", - "UBERON:0001460", - "UBERON:0010314", - "UBERON:0000062", - "UPHENO:0021474", - "UBERON:0003460", - "HP:0100543", - "GO:0071824", - "UPHENO:0002642", - "HP:0011446", - "BFO:0000002", - "UBERON:0006048", - "HP:0040068", - "UPHENO:0087907", - "UBERON:0005451", - "GO:0032501", - "UPHENO:0086932", - "HP:0000234", - "HP:0100547", - "HP:0004378", - "HP:0011842", - "GO:0050877", - "UPHENO:0082875", - "HP:0100887", - "UBERON:0005177", - "UBERON:0002529", - "UBERON:0004765", - "HP:0100542", - "UBERON:0007272", - "BFO:0000001", - "UBERON:0019221", - "UPHENO:0087472", - "BFO:0000020", - "UPHENO:0081566", - "UBERON:0000047", - "HP:0000929", - "UPHENO:0088047", - "UBERON:0001062", - "HP:0009804", - "UBERON:0004375", + "GO:0050890", + "UPHENO:0087614", + "NCBITaxon:1", + "HP:0008056", + "HP:0007766", + "UPHENO:0087596", + "UBERON:0019294", + "UPHENO:0076791", + "GO:0030324", + "UPHENO:0075183", + "UBERON:0001783", + "UPHENO:0085984", + "UBERON:0002336", "HP:0025033", - "HP:0000707", - "UPHENO:0002880", - "UBERON:0000467", + "UBERON:0000966", + "UPHENO:0087355", + "UPHENO:0088186", + "UBERON:0005162", + "UPHENO:0075949", + "UBERON:0000941", + "UPHENO:0003058", + "UBERON:0000025", + "UBERON:0004088", + "HP:0025015", + "UBERON:0000970", + "NCBITaxon:33154", + "HP:0011400", "HP:0002060", - "UPHENO:0076723", - "UPHENO:0002839", - "UBERON:0009569", - "UBERON:0002101", - "HP:0005528", - "BFO:0000040", - "UPHENO:0001005", - "CL:0000763", - "HP:0000163", - "HP:0002817", - "UBERON:0001137", - "UBERON:0034925", - "UBERON:0007811", - "HP:0012638", - "UBERON:0010000", - "HP:0003220", - "UBERON:0000026", - "UPHENO:0001002", - "HP:0001249", + "HP:0012372", + "UPHENO:0087472", + "HP:0011039", + "UPHENO:0069298", + "UPHENO:0085195", + "UPHENO:0063629", + "UBERON:0034713", + "OBI:0100026", + "UPHENO:0001072", + "HP:0001713", + "UBERON:0001043", + "UBERON:0002048", + "UBERON:0010913", + "UPHENO:0081786", + "UPHENO:0021803", + "UPHENO:0076776", + "NCBITaxon:6072", + "HP:0001098", + "UBERON:0005388", + "HP:0000271", + "UPHENO:0001440", + "UPHENO:0026980", + "UPHENO:0008593", + "UPHENO:0081320", + "UBERON:0001008", + "UPHENO:0015280", + "UPHENO:0075902", + "UBERON:0001981", + "UPHENO:0082875", + "HP:0000104", + "UBERON:0000055", + "UBERON:0000489", + "UPHENO:0002934", + "UPHENO:0002803", + "UBERON:0005172", + "UPHENO:0083952", + "UBERON:8450002", + "UBERON:0000916", + "UBERON:0005173", + "GO:0030154", + "UBERON:0002113", + "UPHENO:0085118", + "UBERON:0015410", + "UBERON:0001690", + "UPHENO:0086173", + "UBERON:0001637", + "UBERON:0002037", + "UPHENO:0077426", + "CL:0000457", + "UBERON:0004537", + "UBERON:0000064", + "CL:0000081", + "UBERON:0003951", + "CL:0000763", + "UPHENO:0085371", + "UBERON:0000079", + "UBERON:0005970", + "HP:0001871", + "UPHENO:0084761", + "HP:0001872", + "UBERON:0004375", + "HP:0011873", + "CL:0000232", + "UPHENO:0081095", + "UBERON:0010314", + "HP:0001873", + "UBERON:0001018", + "CL:0000458", + "HP:0020047", + "UPHENO:0081466", + "UPHENO:0002903", + "UPHENO:0081783", + "CL:0002092", + "HP:0025354", + "UBERON:0003037", + "CL:0000151", + "UBERON:0002413", + "CL:0000988", + "UPHENO:0086854", + "UBERON:0002100", + "UPHENO:0076675", + "UPHENO:0063565", + "UPHENO:0026028", + "UPHENO:0084928", + "UPHENO:0085302", + "UPHENO:0087339", + "HP:0010987", + "HP:0005561", + "HP:0011893", ], "has_phenotype_closure_label": [ - "integument", - "integumental system", - "abnormal integument", - "abnormal skin of body morphology", - "Localized skin lesion", - "abnormal anus morphology", - "anatomical entity atresia", - "anus", - "Abnormality of the anus", - "Abnormal anus morphology", - "Abnormality of the vertebral column", - "abnormal vertebral column", - "vertebral column", - "Abnormal curvature of the vertebral column", - "Scoliosis", - "dorsal region element", - "Abnormal spinal cord morphology", - "Tethered cord", - "dorsum", - "spinal cord", - "Delayed gross motor development", - "abnormal spinal cord morphology", - "abnormal metabolic process", - "biological regulation", - "metabolic process", + "decreased developmental process", + "decreased qualitatively developmental process", + "abnormal embryo development", + "changed biological_process rate", + "Intrauterine growth retardation", + "changed embryo development rate", + "Delayed CNS myelination", + "abnormal biological_process in nervous system", + "gliogenesis", + "oligodendrocyte differentiation", + "oligodendrocyte development", + "neurogenesis", + "glial cell differentiation", + "ensheathment of neurons", + "cellular developmental process", + "abnormal myelination in independent continuant", + "abnormal central nervous system myelination in independent continuant", + "delayed central nervous system myelination", + "Delayed myelination", + "Abnormal CNS myelination", + "axon ensheathment", + "abnormal axon ensheathment in central nervous system in independent continuant", + "Abnormality of prenatal development or birth", + "decreased embryo development", + "abnormal umbilical blood vessel morphology", + "entire extraembryonic component", + "Abnormality of the umbilical cord", + "Abnormal fetal cardiovascular morphology", + "extraembryonic structure", + "abnormal late embryo", + "Fetal anomaly", + "Abnormal cardiac ventricle morphology", + "interventricular septum", + "abnormal interventricular septum morphology", + "abnormal incomplete closing of the interventricular septum", + "abnormal cardiac ventricle morphology in the independent continuant", + "conceptus", + "abnormal biological_process in central nervous system", + "primary circulatory organ", + "abnormal anatomical entity morphology in the heart", + "heart vasculature", + "thoracic segment blood vessel", + "artery", + "Congenital malformation of the great arteries", + "circulatory organ", + "trunk blood vessel", + "abnormal artery morphology in the independent continuant", + "coronary vessel", + "abnormal incomplete closing of the ductus arteriosus", + "abnormal systemic artery morphology", + "systemic artery", + "vasculature of organ", + "heart plus pericardium", + "vasculature of trunk", + "Aplasia/Hypoplasia of the radius", + "abnormal forelimb zeugopod bone", + "absent radius bone in the forelimb", + "Abnormalities of placenta or umbilical cord", + "forelimb long bone", + "aplastic forelimb zeugopod bone", + "Abnormal morphology of the radius", + "umbilical blood vessel", + "abnormal heart morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "embryo development", + "abnormal cardiac ventricle morphology in the heart", + "abnormal radius bone morphology", + "Aplasia involving forearm bones", + "Aplasia involving bones of the extremities", + "limb long bone", + "radius endochondral element", + "abnormal forelimb zeugopod morphology", + "delayed biological_process in central nervous system", + "Abnormal forearm bone morphology", + "abnormal bone of pectoral complex morphology", + "absent radius bone", + "absent forelimb zeugopod bone", + "Aplasia involving bones of the upper limbs", + "forelimb zeugopod skeleton", + "Abnormal vertebral morphology", + "Abnormal helix morphology", + "folded anatomical entity in independent continuant", + "folded anatomical entity", + "Abnormally folded helix", + "pinna", + "abnormal helix of outer ear morphology", + "surface feature shape anatomical entity", + "abnormal penis morphology", + "abnormal male reproductive system morphology", + "Abnormality of male external genitalia", + "External genital hypoplasia", + "Abnormal penis morphology", + "external male genitalia", + "intromittent organ", + "Abnormal external genitalia", + "decreased size of the penis", + "abnormal male reproductive system", + "abnormal vertebral column morphology", + "abnormal external male genitalia morphology", + "abnormal penis", + "male reproductive system", + "abnormal reproductive system morphology", + "decreased size of the external male genitalia", + "abnormal cerebral hemisphere morphology", + "white matter of telencephalon", + "abnormal cerebral hemisphere white matter morphology", + "white matter", + "telencephalon", + "abnormal size of corpus callosum", + "abnormal forebrain morphology", + "folded helix of outer ear", + "forebrain", + "white matter of forebrain", + "brain commissure", + "corpus callosum hypoplasia", + "decreased size of the corpus callosum", + "cerebral subcortex", + "Abnormal cerebral subcortex morphology", + "aplasia or hypoplasia of telencephalon", + "Hypoplasia of the corpus callosum", + "Abnormal ventricular septum morphology", + "Abnormal cerebral white matter morphology", + "Abnormal cerebral morphology", "cellular process", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "Chromosomal breakage induced by crosslinking agents", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "regulation of cellular process", - "regulation of metabolic process", - "negative regulation of biological process", - "nucleobase-containing compound metabolic process", - "organic cyclic compound metabolic process", - "obsolete heterocycle metabolic process", - "obsolete cellular nitrogen compound metabolic process", - "cellular component organization", - "regulation of biosynthetic process", - "regulation of cellular metabolic process", - "negative regulation of cellular process", - "organelle organization", - "protein-containing complex organization", - "abnormal cellular process", - "regulation of gene expression", - "negative regulation of macromolecule biosynthetic process", - "programmed DNA elimination", - "obsolete cell", - "regulation of cellular biosynthetic process", - "negative regulation of biosynthetic process", - "negative regulation of macromolecule metabolic process", - "negative regulation of cellular metabolic process", - "DNA metabolic process", - "myeloid cell", - "oxygen accumulating cell", - "blood cell", - "erythroid lineage cell", - "Anemia", - "abnormal erythroid lineage cell morphology", - "abnormal myeloid cell morphology", - "nucleic acid metabolic process", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "Abnormal metencephalon morphology", - "abnormally formed cerebellum", - "Abnormal hindbrain morphology", - "hindbrain", - "organic substance metabolic process", + "cerebral hemisphere white matter", + "intercerebral commissure", + "nervous system commissure", + "Cerebral white matter hypoplasia", + "nervous system development", + "Thin corpus callosum", + "corpus callosum", + "abnormal cerebellum morphology", + "segmental subdivision of nervous system", + "external genitalia", "cerebellum", "metencephalon", - "Chiari type I malformation", - "Abnormal cerebellum morphology", - "abnormal cerebellum morphology", - "abnormally formed anatomical entity in independent continuant", - "segmental subdivision of hindbrain", - "Abnormality of the skin", - "abnormal metencephalon morphology", + "delayed myelination", "abnormal hindbrain morphology", - "visual system", - "chromatin organization", - "sensory system", - "eye", - "orbital region", - "Neurodevelopmental delay", - "decreased size of the anatomical entity in the independent continuant", - "entire sense organ system", - "Abnormal cellular phenotype", - "Abnormality of the orbital region", - "abnormal eyeball of camera-type eye", - "eyeball of camera-type eye", - "camera-type eye", - "appendage girdle complex", - "decreased size of the eyeball of camera-type eye", - "anatomical conduit", - "Abnormality of globe size", - "forelimb endochondral element", - "abnormal forelimb zeugopod morphology", - "abnormal radius bone morphology", - "abnormal bone of pectoral complex morphology", - "dysgenesis of the radius bone", - "limb long bone", - "bone of free limb or fin", - "Abnormal morphology of the radius", - "arm bone", - "radius bone", - "Radial dysplasia", - "long bone", - "abnormally decreased number of anatomical entity", - "Abnormal forearm morphology", - "abnormal forebrain morphology", - "hematopoietic system", - "abnormally localised anatomical entity", - "non-connected functional system", - "system process", - "Neoplasm", - "abnormal bone marrow cell", - "abnormal nitrogen compound metabolic process", - "abnormal immune system", - "hemolymphoid system", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", - "abnormal bone marrow cell morphology", - "phenotype", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormality of bone marrow cell morphology", - "disconnected anatomical group", + "Abnormal metencephalon morphology", + "cerebellum hypoplasia", + "regional part of nervous system", + "forelimb zeugopod", + "Aplasia/Hypoplasia of the cerebellum", + "Cerebellar hypoplasia", + "Abnormality of metabolism/homeostasis", + "absent anatomical entity in the skeletal system", + "Abnormal cellular physiology", + "metabolic process", + "abnormal vertebra morphology", + "Esophageal atresia", + "esophagus atresia", + "Abnormal blood vessel morphology", + "Abnormality of the vasculature", + "Abnormality of cardiovascular system morphology", + "aortic system", + "cardiovascular system", + "Coarctation of aorta", + "blood vasculature", + "arterial system", + "outflow tract", + "blood vessel", + "abnormal great vessel of heart morphology", + "Abnormal morphology of the great vessels", + "Abnormality of the cardiovascular system", + "aorta", + "Bilateral radial aplasia", + "abnormal metencephalon morphology", + "abnormal cardiovascular system morphology", + "abnormal aorta morphology", + "thoracic cavity blood vessel", + "helix of outer ear", + "arterial blood vessel", + "Abnormal aortic morphology", + "Abnormal reproductive system morphology", + "abnormal cardiovascular system", + "Aplastic anemia", + "Abnormal immune system morphology", + "Abnormal cellular immune system morphology", + "erythroid lineage cell", "tissue", - "Abnormality of the immune system", - "phenotype by ontology source", - "cell", - "limb bone", - "abnormal cell morphology", - "macromolecule metabolic process", - "bone of pectoral complex", - "abnormal upper urinary tract", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "abnormal myelination", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "Abnormality of mental function", + "abnormality of nervous system physiology", + "forelimb zeugopod bone", + "nervous system", "renal system", - "cavitated compound organ", - "anus atresia", - "abdomen", - "excretory system", - "Abnormality of the genitourinary system", - "Abnormality of limbs", - "Abnormal renal morphology", - "Growth abnormality", - "abnormal renal system morphology", - "subdivision of trunk", - "abdomen element", - "pectoral complex", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "biological_process", + "Abnormal optic nerve morphology", + "nervous system process", + "system process", + "subdivision of digestive tract", + "delayed biological_process", + "Single umbilical artery", + "developing anatomical structure", + "Abnormal location of ears", + "thoracic cavity element", + "Abnormal systemic arterial morphology", + "hematopoietic system", + "respiratory airway", + "nucleate cell", + "abnormal cerebral subcortex morphology", + "respiratory tube", + "abnormal nervous system", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "endoderm-derived structure", "trunk region element", - "Abnormal nervous system morphology", - "forelimb zeugopod", - "Abnormal conus terminalis morphology", - "Abnormality of head or neck", + "pectoral complex", + "proximo-distal subdivision of respiratory tract", + "anatomical structure morphogenesis", + "Abnormality of the digestive system", + "Abnormal esophagus morphology", + "Abnormality of the vertebral column", + "retina", + "thoracic segment of trunk", + "abnormal digit", + "Abnormality of the respiratory system", + "Abnormal tracheobronchial morphology", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "abnormal esophagus morphology", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "mesoderm-derived structure", + "abnormality of respiratory system physiology", + "Micropenis", + "Metazoa", + "Abnormal hand morphology", + "abnormal limb", + "manus", + "abnormal male reproductive organ morphology", + "occurrent", + "organ", + "appendicular skeleton", + "Abnormal cerebellum morphology", + "upper limb segment", + "limb skeleton subdivision", + "cell differentiation", + "appendicular skeletal system", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", + "axon ensheathment in central nervous system", + "compound organ", + "eye", + "absent anatomical entity in the renal system", + "cell", + "absent anatomical entity in the independent continuant", + "Aplasia/Hypoplasia of the thumb", + "abnormal size of brain ventricle", + "bone cell", + "arm", + "head", + "abnormal manus morphology", + "manual digit", "Abnormal eye morphology", - "abnormal kidney morphology", - "aplastic secondary dentition", - "Abnormality of skin morphology", - "brain ventricle/choroid plexus", - "abnormal number of anatomical enitites of type secondary dentition", - "bone marrow", - "tooth-like structure", - "digestive system", - "subdivision of head", - "abnormal location of anatomical entity", - "oral cavity", - "anatomical space", - "abnormal digestive system", - "subdivision of digestive tract", - "abnormal digestive system morphology", + "Abnormal appendicular skeleton morphology", + "abnormal number of anatomical enitites of type leukocyte", + "Abnormal retinal morphology", + "Finger aplasia", + "absent kidney in the renal system", + "bone of appendage girdle complex", + "anatomical wall", + "genitourinary system", "digestive tract", + "vessel", + "lateral structure", + "abnormal limb bone morphology", + "abnormal shape of external ear", + "Aplasia/hypoplasia involving bones of the hand", + "decreased size of the optic disc", + "Abnormal vascular morphology", + "abnormal arm", "Abnormality of digestive system morphology", - "abnormal oral cavity morphology", - "abnormal mouth", - "simple eye", - "abnormally decreased number of anatomical entity in the independent continuant", - "quality", - "forelimb zeugopod bone", - "Agenesis of permanent teeth", - "Abnormality of the digestive system", - "mouth", - "tube", - "autopodial extension", - "Abnormal oral morphology", - "abnormal mouth morphology", - "abnormal size of eyeball of camera-type eye", - "aplastic anatomical entity", - "abnormal face", - "Abnormality of the upper urinary tract", - "abnormal dentition", - "growth", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "abnormal growth", - "Pelvic kidney", - "Abnormal localization of kidney", - "Abnormal erythroid lineage cell morphology", - "transudate", - "skeletal system", - "upper urinary tract", - "abnormally increased number of brain ventricle in the independent continuant", - "trunk", - "digit 1 plus metapodial segment", - "anatomical wall", - "abnormal anatomical entity morphology in the pectoral complex", - "bodily fluid", - "autopod region", - "compound organ", - "abnormal brain ventricle morphology", - "cerebrospinal fluid", - "Abnormal cerebrospinal fluid morphology", - "zeugopodial skeleton", - "ventricle of nervous system", - "brain ventricle", - "Aplasia/Hypoplasia involving the central nervous system", - "organism substance", - "specifically dependent continuant", - "Hydrocephalus", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Abnormal forearm bone morphology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "calcareous tooth", - "ventricular system of central nervous system", - "abnormal forelimb zeugopod bone", - "kidney", - "negative regulation of gene expression", - "ventricular system of brain", - "Abnormal cerebral ventricle morphology", - "abnormally increased number of anatomical entity in the independent continuant", - "abnormal kidney", - "abnormal brain ventricle/choroid plexus morphology", - "abnormal DNA metabolic process", - "abnormal chromatin organization", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormal forebrain morphology", "forelimb", - "Microphthalmia", - "malformed anatomical entity", + "abnormal digestive system", + "Abnormality of the cervical spine", + "Abnormal skeletal morphology", + "umbilical cord", "autopodial skeleton", - "Motor delay", - "abnormal anatomical entity", + "aplasia or hypoplasia of skeleton", + "cardiac ventricle", + "abnormal craniocervical region", + "Abnormal ear morphology", + "abnormal autopod region morphology", + "Absent thumb", + "Low-set ears", + "abnormal ear", + "penis hypoplasia", + "limb endochondral element", + "paired limb/fin skeleton", + "postcranial axial skeletal system", + "lung lobe formation", + "Neurodevelopmental abnormality", + "subdivision of organism along appendicular axis", + "multicellular organism development", + "reproductive system", + "aplastic manual digit 1", + "abnormal cervical vertebra", + "Abnormal fetal morphology", + "commissure of telencephalon", + "abnormal intestine morphology", + "independent continuant", + "abnormal leukocyte morphology", + "radius bone", + "Abnormality of the hand", + "embryonic cardiovascular system", + "organism subdivision", + "segmental subdivision of hindbrain", + "digit 1 or 5", + "Abnormal myeloid cell morphology", + "Aplasia/hypoplasia involving the skeleton", + "optic disc hypoplasia", + "decreased qualitatively biological_process", + "anatomical entity", + "long bone", + "material entity", + "abnormal respiratory system morphology", + "vertebral element", + "viscus", + "vertebral column", + "Abnormal cardiac septum morphology", + "subdivision of skeleton", + "endochondral bone", + "cervical vertebra", + "Abnormality of limbs", + "Abnormality of limb bone morphology", + "Hypoplasia of penis", + "animal organ development", + "abnormal anatomical entity morphology", + "Abnormality of head or neck", + "skeletal element", + "thoracic segment organ", + "anatomical collection", + "decreased size of the anatomical entity in the independent continuant", + "Aplasia/Hypoplasia of the optic nerve", + "abnormal cellular process", + "secretory cell", + "bone element", + "abnormal platelet", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal immune system morphology", + "Cognitive impairment", + "abnormal central nervous system myelination", + "organ subunit", + "obsolete cell", + "digestive system", + "abnormal optic disc morphology", "paired limb/fin", - "abnormal limb long bone morphology", - "regulation of macromolecule metabolic process", - "continuant", - "aplastic manual digit 1", - "Abnormal appendicular skeleton morphology", - "delayed biological_process", - "abnormal anatomical entity morphology in the manus", - "abnormal hematopoietic system morphology", - "Abnormal number of teeth", - "Aplasia/hypoplasia involving the skeleton", - "pectoral appendage", - "mesoderm-derived structure", - "cellular component organization or biogenesis", + "Morphological abnormality of the gastrointestinal tract", + "appendage", + "root", + "Aplasia/Hypoplasia of fingers", + "delayed biological_process in independent continuant", + "digitopodium region", + "abnormal anatomical entity", "Phenotypic abnormality", - "Abnormality of the face", - "abnormal digit morphology", - "orifice", - "abnormal orbital region", - "bone marrow cell", - "abnormal manus", - "abnormal anatomical entity morphology in the independent continuant", - "segment of manus", - "manual digit 1", - "multi-limb segment region", - "immune system", - "face", - "Microcephaly", - "abnormal craniocervical region", - "limb skeleton subdivision", - "manual digit plus metapodial segment", - "abnormal immune system morphology", - "radius endochondral element", - "Abnormal number of permanent teeth", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "abnormal cellular metabolic process", - "acropodium region", - "abnormally decreased number of calcareous tooth", - "Abnormality of the dentition", + "abnormal anatomical entity morphology in the retina", + "bone of pectoral complex", + "decreased length of anatomical entity", + "zeugopodial skeleton", + "abnormal cerebrospinal fluid morphology", + "entity", + "abnormal anatomical entity morphology in the manus", "skeleton", - "Absent thumb", - "Abnormality of skull size", - "Abnormal digit morphology", - "aplasia or hypoplasia of manual digit", + "abnormal limb morphology", + "anatomical conduit", + "heart", + "Abnormality of the head", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "absent anatomical entity in the forelimb", + "multicellular anatomical structure", + "Abnormality of the gastrointestinal tract", + "absent digit", + "glial cell development", + "Abnormal hindbrain morphology", + "phenotype", + "Abnormal cell morphology", + "musculoskeletal system", + "Abnormality of the eye", + "axon tract", + "abnormal upper urinary tract", + "Abnormality of the neck", + "manual digit 1", + "autopodial extension", + "abnormal face", + "abnormal alimentary part of gastrointestinal system", + "organ system subdivision", + "embryo", + "abnormal blood cell", + "erythrocyte", + "abnormal vertebral column", + "Aplasia/hypoplasia of the extremities", + "forelimb skeleton", + "endocrine system", + "abnormally decreased functionality of the anatomical entity", + "skeletal system", + "abnormal cardiac ventricle morphology", + "motile cell", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "limb segment", + "subdivision of vertebral column", + "absent manual digit", + "decreased size of the cerebellum", + "abnormal phenotype by ontology source", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "abnormal craniocervical region morphology", + "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", + "continuant", + "absent radius bone in the independent continuant", + "systemic arterial system", + "neck bone", + "entire sense organ system", "absent anatomical entity in the limb", + "abnormal blood vessel morphology", + "lung", + "abnormal biological_process in independent continuant", + "decreased size of the anatomical entity", + "cognition", + "neck", + "abnormal manual digit morphology in the independent continuant", + "shape anatomical entity in independent continuant", + "skeleton of pectoral complex", + "decreased length of anatomical entity in independent continuant", + "Renal hypoplasia/aplasia", + "trunk or cervical vertebra", + "Fetal ultrasound soft marker", + "abnormal neck", + "abnormal brain ventricle morphology", + "endochondral element", + "craniocervical region", + "abnormal trachea morphology", + "male organism", + "abnormal appendicular skeleton morphology", + "anterior region of body", + "aplastic anatomical entity", + "Absent forearm bone", "abnormal manual digit 1 morphology", + "Abnormal tracheal morphology", + "abnormal respiratory tube morphology", + "dorsum", + "abnormal coronary vessel morphology", + "tracheobronchial tree", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "protein-containing material entity", + "abnormal skeletal system morphology", + "segment of manus", + "main body axis", + "abnormal kidney morphology", + "decreased length of neck", + "cervical vertebra endochondral element", + "postcranial axial skeleton", + "abnormal external ear morphology", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "Abnormality of the musculoskeletal system", + "abnormally decreased number of myeloid cell", + "bone of dorsum", + "abnormal neck morphology", + "abnormal artery morphology", + "Abnormal forearm morphology", + "vertebra", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "reproductive organ", + "cell development", + "skeleton of manus", + "shape helix of outer ear", + "abnormal digestive system morphology", + "abnormal forelimb morphology", + "quality", + "abnormal tracheobronchial tree morphology", "Abnormal finger morphology", - "Abnormality of the upper limb", - "abnormal telencephalon morphology", - "Bone marrow hypocellularity", - "Abnormality of the nervous system", - "abnormal cellular component organization", - "appendicular skeletal system", - "Eukaryota", - "forebrain", - "Abnormality of the integument", - "paired limb/fin segment", - "nervous system", + "Abnormal neck morphology", + "anatomical system", + "upper digestive tract", + "abnormal digit morphology", + "abnormal skeletal system", + "digit 1 plus metapodial segment", + "material anatomical entity", "skeleton of limb", - "Abnormal oral cavity morphology", - "regulation of biological process", - "Abnormal thumb morphology", - "Eumetazoa", - "segment of autopod", - "abnormal appendicular skeleton morphology", - "manual digit 1 or 5", - "abnormal anus", - "Abnormal cell morphology", - "organ component layer", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal forebrain morphology", - "manus", + "digit plus metapodial segment", + "subdivision of tube", + "aplasia or hypoplasia of manual digit 1", "system", - "subdivision of organism along main body axis", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the hand", - "bone cell", - "digit 1", - "regional part of nervous system", - "abnormal head", - "abnormal autopod region morphology", - "digit", - "Abnormality of the skeletal system", - "abdominal segment of trunk", - "abnormal limb", - "Delayed ability to walk", - "regional part of brain", - "Intellectual disability", - "digit 1 or 5", - "absent manual digit", - "Abnormal hand morphology", - "All", + "circulatory system", + "bone marrow cell", + "tube", + "brain white matter", + "abnormal developmental process", + "penis", + "digestive system element", + "abnormal size of anatomical entity", + "Abnormality of thrombocytes", "Abnormal axial skeleton morphology", - "appendicular skeleton", - "abnormal skin of body", - "segmental subdivision of nervous system", - "absent anatomical entity in the forelimb", - "Nevus", - "abnormal manual digit morphology in the independent continuant", - "Growth delay", - "forelimb skeleton", - "abnormal anatomical entity morphology in the appendage girdle complex", - "anatomical collection", - "Abnormality of multiple cell lineages in the bone marrow", - "skeleton of pectoral complex", - "manual digitopodium region", - "anterior region of body", - "absent anatomical entity in the multicellular organism", - "forelimb long bone", - "abnormal manus morphology", - "obsolete cellular aromatic compound metabolic process", - "immaterial entity", - "immaterial anatomical entity", - "endochondral element", - "endochondral bone", - "negative regulation of cellular biosynthetic process", - "Abnormal bone structure", - "Abnormality of the mouth", - "arm", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "Abnormal corpus callosum morphology", + "irregular bone", + "organism", + "abnormal limb bone", + "Abnormal nervous system morphology", + "sense organ", "limb", - "lateral structure", - "secondary dentition", + "increased size of the anatomical entity", "abnormal number of anatomical enitites of type anatomical entity", - "digit plus metapodial segment", - "Neoplasm by anatomical site", - "Abnormality of limb bone", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal genitourinary system", - "axial skeletal system", - "abnormality of nervous system physiology", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/hypoplasia involving bones of the extremities", + "limb bone", + "multicellular organismal process", + "organ part", + "absent anatomical entity in the multicellular organism", + "abnormal ductus arteriosus morphology", + "manual digit plus metapodial segment", + "Intellectual disability", + "bone marrow", + "subdivision of organism along main body axis", + "small intestine", "agenesis of anatomical entity", - "Aplasia/Hypoplasia affecting the eye", - "biological_process", - "subdivision of skeleton", - "protein-containing material entity", - "bone of appendage girdle complex", - "manual digit", - "abnormal nervous system morphology", - "abnormal cell", - "bone element", - "nervous system process", + "abnormal manual digit morphology in the manus", + "Abnormal digit morphology", + "phenotype by ontology source", + "abnormal development of anatomical entity", + "subdivision of trunk", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "absent anatomical entity", + "abnormal opening of the anatomical entity", + "ductus arteriosus", + "dorsal region element", "body proper", - "abnormal programmed DNA elimination by chromosome breakage", + "respiratory system", + "pectoral appendage", + "abnormal hematopoietic system morphology", + "system development", + "digit", + "multi-limb segment region", + "acropodium region", + "tube development", + "abnormal manus", + "abnormally increased number of brain ventricle in the independent continuant", + "cerebrospinal fluid", + "All", + "posterior segment of eyeball", + "ectoderm-derived structure", + "Hydrocephalus", + "Abnormal leukocyte count", + "cavitated compound organ", + "aplasia or hypoplasia of cerebellum", + "abnormally increased number of anatomical entity in the independent continuant", + "surface feature shape anatomical entity in independent continuant", + "Abnormal optic disc morphology", + "abnormal brain white matter morphology", + "Abnormality of the outer ear", + "abnormal cardiac septum morphology", + "organism substance", + "Abnormality of limb bone", + "central nervous system", + "ventricular system of central nervous system", + "abnormally increased number of anatomical entity", + "Morphological central nervous system abnormality", + "organ component layer", + "Abnormality of the urinary system", + "Absent radius", + "Abnormal cerebrospinal fluid morphology", + "myelination", + "vascular system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", "Abnormality of brain morphology", - "subdivision of skeletal system", - "sense organ", - "abnormal postcranial axial skeleton morphology", - "telencephalon", - "manual digit 1 plus metapodial segment", - "protein-DNA complex organization", - "organ", - "programmed DNA elimination by chromosome breakage", - "abnormal bone marrow morphology", - "organism subdivision", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormality of limb bone morphology", - "zeugopod", - "abnormal anatomical entity morphology in the brain", - "organ system subdivision", - "process", - "main body axis", - "cellular organisms", - "skin of body", - "Abnormal cellular physiology", - "abnormal biological_process", - "multi-tissue structure", - "abnormal forelimb morphology", - "aplasia or hypoplasia of telencephalon", - "abnormal brain morphology", - "abnormal limb bone", - "abnormality of anatomical entity physiology", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormally formed anatomical entity", + "Aplasia/Hypoplasia of the corpus callosum", + "appendage girdle complex", + "subdivision of head", + "transudate", "abnormal central nervous system morphology", - "root", - "abnormal size of anatomical entity", - "skull", - "cognition", - "decreased size of the anatomical entity", - "negative regulation of metabolic process", - "abnormal camera-type eye morphology", - "abnormally localised anatomical entity in independent continuant", - "musculoskeletal system", - "delayed growth", - "abnormal cerebrospinal fluid morphology", - "organism", - "Abnormal skeletal morphology", - "limb endochondral element", - "anatomical entity", - "axial skeleton plus cranial skeleton", - "paired limb/fin skeleton", - "postcranial axial skeletal system", - "abnormal size of skull", - "Abnormality of the musculoskeletal system", - "dysgenesis of the anatomical entity", - "Neurodevelopmental abnormality", - "Abnormal skull morphology", - "Abnormality of the eye", - "abnormal skull morphology", - "erythrocyte", - "abnormal limb bone morphology", - "aplasia or hypoplasia of anatomical entity", - "cellular metabolic process", - "abnormally increased number of anatomical entity", + "abnormal reproductive system", + "abnormal kidney", + "abnormal nervous system morphology", + "abnormal umbilical cord", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "abnormal brain ventricle/choroid plexus morphology", + "ventricle of nervous system", + "increased size of the anatomical entity in independent continuant", + "vestibulo-auditory system", + "abnormal cranial nerve II morphology", + "hematopoietic cell", + "cellular organisms", + "Abnormal lung morphology", + "Decreased anatomical entity position", + "abnormal ear morphology", + "Pancytopenia", + "abnormal head", + "late embryo", + "Gastrointestinal atresia", + "abnormal location of anatomical entity", + "lower respiratory tract", + "abnormal bone marrow morphology", + "non-connected functional system", + "abnormal location of ear", + "ear", + "anatomical entity hypoplasia in face", + "abnormal head morphology", + "sensory system", + "gonad", + "abnormal growth", + "abnormal ocular fundus morphology", + "Decreased external ear position", + "platelet", + "abnormal location of external ear", + "Abnormality of the ear", + "Neoplasm", + "Tracheoesophageal fistula", + "Abnormal intestine morphology", + "orbital region", + "abnormal telencephalon morphology", + "external ear", "abnormal anatomical entity topology in independent continuant", - "limb segment", - "abnormally localised kidney", - "Cerebellar malformation", - "postcranial axial skeleton", - "central nervous system", - "absent anatomical entity", - "Chromosome breakage", - "abnormal number of anatomical enitites of type calcareous tooth", - "Cognitive impairment", - "Metazoa", - "pectoral appendage skeleton", + "Patent ductus arteriosus", + "dorsal part of neck", + "Abnormal pinna morphology", + "abnormal external ear", + "abnormal bone marrow cell", + "trunk", + "abnormal shape of continuant", + "zeugopod", + "pair of lungs", + "segment of autopod", + "respiration organ", + "lung lobe development", + "Abnormal respiratory system physiology", + "Abnormal lung development", + "Abnormal lung lobation", + "abnormal lung lobe formation", + "abnormal lung morphology", + "Hypoplastic male external genitalia", + "anatomical structure development", + "anatomical structure formation involved in morphogenesis", + "Hypergonadotropic hypogonadism", + "respiratory system development", + "Abnormality of the orbital region", + "Aplasia/hypoplasia involving forearm bones", + "lung development", + "tract of brain", + "abnormally decreased functionality of the gonad", + "respiratory tube development", + "lung morphogenesis", + "Aplasia/Hypoplasia affecting the fundus", + "Abnormal platelet count", + "manual digit 1 or 5", + "developmental process", + "Abnormal myelination", + "Abnormal heart morphology", + "abnormality of reproductive system physiology", + "Abnormality of the genital system", + "regional part of brain", + "Abnormal posterior eye segment morphology", + "Abnormality of reproductive system physiology", + "Abnormality of the endocrine system", + "hindbrain", + "animal organ morphogenesis", + "abnormal endocrine system", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "Puberty and gonadal disorders", + "ventricular system of brain", + "shape anatomical entity", + "anatomical entity hypoplasia in independent continuant", + "glandular system", + "reproductive structure", + "changed developmental process rate", + "abnormal brain commissure morphology", + "dorsal telencephalic commissure", + "abnormal vasculature", + "abnormal genitourinary system", + "blood cell", + "Abnormality of the genitourinary system", + "Abnormal duodenum morphology", + "abnormal axon tract morphology", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", + "Duodenal atresia", + "vasculature", + "duodenum atresia", + "forelimb endochondral element", + "abnormal duodenum morphology", + "abnormal systemic arterial system morphology", + "Short neck", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal external genitalia", + "Abnormal renal morphology", + "respiratory tract", + "alimentary part of gastrointestinal system atresia", + "arm bone", + "Intestinal atresia", + "intestine", + "duodenum", + "intestine atresia", + "Abnormal small intestine morphology", + "aplasia or hypoplasia of corpus callosum", + "abnormal closing of the anatomical entity", + "abnormal small intestine", + "Abnormality of the male genitalia", + "manual digitopodium region", + "cervical region of vertebral column", + "Abnormal respiratory system morphology", + "Abnormality of blood and blood-forming tissues", + "upper urinary tract", + "delayed growth", + "axial skeletal system", + "Growth abnormality", + "cardiac chamber", + "aplasia or hypoplasia of manual digit", + "face", + "abnormal corpus callosum morphology", + "abnormal orbital region", + "Aplasia/Hypoplasia of the cerebral white matter", + "visual system", + "abnormal external male genitalia", + "abnormal anatomical entity morphology in the brain", + "multi cell part structure", + "central nervous system myelination", + "abnormal posterior segment of eyeball morphology", + "abnormal camera-type eye morphology", + "Ventricular septal defect", + "cerebral hemisphere", + "abnormal eyeball of camera-type eye", "Abnormality of the kidney", - "anatomical cavity", - "ectoderm-derived structure", - "Aplasia/Hypoplasia of fingers", - "subdivision of tube", - "Opisthokonta", - "Abnormal long bone morphology", - "structure with developmental contribution from neural crest", - "dentition", - "Abnormal myeloid cell morphology", - "abnormally decreased number of anatomical entity in the multicellular organism", - "Aplasia/hypoplasia of the extremities", - "occurrent", - "abnormal skeletal system morphology", - "anatomical system", - "abnormal anatomical entity morphology", - "abnormal skeletal system", - "abnormal organelle organization", - "head", - "abnormal head morphology", + "bodily fluid", + "multi-tissue structure", + "abnormal vascular system morphology", + "photoreceptor array", + "cranial neuron projection bundle", + "abnormal retina morphology", + "great vessel of heart", + "abnormal myeloid cell morphology", + "external male genitalia hypoplasia", + "brain ventricle/choroid plexus", + "aplasia or hypoplasia of cranial nerve II", + "camera-type eye", + "chorioretinal region", + "abnormal immune system", + "optic disc", + "central nervous system cell part cluster", + "abnormal cell morphology", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "ocular fundus", + "brain ventricle", + "eyeball of camera-type eye", + "cervical region", + "Optic disc hypoplasia", + "Eumetazoa", + "Abnormal umbilical cord blood vessel morphology", + "Eukaryota", + "neuron projection bundle", + "simple eye", + "trachea", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "cranial nerve II", + "central nervous system development", + "esophagus", + "hemolymphoid system", + "abnormal size of optic disc", + "Abnormality of the face", + "abnormal face morphology", "forelimb bone", - "subdivision of organism along appendicular axis", - "absent anatomical entity in the independent continuant", - "craniocervical region", - "brain", - "abnormal hematopoietic cell morphology", - "abnormal limb morphology", - "organ part", - "multicellular organism", - "abnormal arm", - "Anal atresia", - "Abnormal nervous system physiology", - "Finger aplasia", - "digitopodium region", - "Tooth agenesis", - "abnormal hematopoietic system", - "hematopoietic cell", - "Decreased head circumference", - "abnormal craniocervical region morphology", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the urinary system", - "Chiari malformation", - "anatomical structure", - "Morphological central nervous system abnormality", - "multicellular organismal process", - "abnormal long bone morphology", - "entity", - "Abnormality of the head", - "Abnormality of mental function", - "abdominal segment element", - "absent digit", - "genitourinary system", - "material anatomical entity", - "appendage", - "aplasia or hypoplasia of skeleton", - "independent continuant", - "upper limb segment", - "cranial skeletal system", - "abnormal nervous system", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal renal system", - "Abnormal upper limb bone morphology", - "skeletal element", - "abnormal digit", - "abnormal closing of the anatomical entity", - "material entity", - "organ subunit", - "Abnormal cerebral morphology", - "Ectopic kidney", - "abnormal manual digit morphology in the manus", - "abnormal phenotype by ontology source", - ], - }, - { - "id": "MONDO:0014987", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group U", - "xref": ["DOID:0111085", "GARD:16215", "OMIM:617247", "UMLS:C4310651"], - "provided_by": "phenio_nodes", - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.", - "synonym": [ - "FANCU", - "Fanconi Anemia, complementation group U", - "Fanconi Anemia, complementation group type U", - "Fanconi anaemia caused by mutation in XRCC2", - "Fanconi anaemia complementation group type U", - "Fanconi anemia caused by mutation in XRCC2", - "Fanconi anemia complementation group type U", - "Fanconi anemia, complementation GROUP U", - "XRCC2 Fanconi anaemia", - "XRCC2 Fanconi anemia", - ], - "namespace": "MONDO", - "has_phenotype": [ - "HP:0040012", - "HP:0000086", - "HP:0010035", - "HP:0000252", - "HP:0002984", - "HP:0009777", - "HP:0001510", - "HP:0003974", - "HP:0001643", - "HP:0012799", - "HP:0011835", - ], - "has_phenotype_label": [ - "Chromosome breakage", - "Ectopic kidney", - "Aplasia of the 1st metacarpal", - "Microcephaly", - "Hypoplasia of the radius", - "Absent thumb", - "Growth delay", - "Absent radius", - "Patent ductus arteriosus", - "Unilateral facial palsy", - "Absent scaphoid", - ], - "has_phenotype_count": 11, - "has_phenotype_closure": [ - "HP:0001191", - "UPHENO:0076767", - "UPHENO:0002961", - "UBERON:0014395", - "UBERON:0013630", - "UPHENO:0026001", - "UPHENO:0081524", - "UBERON:0009878", - "UBERON:0006716", - "UBERON:0017750", - "UBERON:0015049", - "UBERON:0000982", - "UPHENO:0009338", - "UPHENO:0002973", - "UBERON:0004770", - "HP:0011835", - "HP:0006502", - "UBERON:0001427", - "UBERON:0034921", - "UBERON:0005162", - "UBERON:0001444", - "HP:0010827", - "HP:0000271", - "UPHENO:0082875", - "UBERON:0004461", - "UBERON:0034713", - "HP:0000301", - "UPHENO:0081709", - "UBERON:0001033", - "HP:0012799", - "UBERON:0001577", - "UBERON:0001015", - "UBERON:0000383", - "HP:0000759", - "HP:0009810", - "HP:0031910", - "UPHENO:0005116", - "HP:0011805", - "UBERON:0000122", - "HP:0012638", - "UPHENO:0076722", - "HP:0001291", - "UBERON:0013700", - "UBERON:0002376", - "UPHENO:0002908", - "HP:0006824", - "UPHENO:0002816", - "HP:0003011", - "UPHENO:0076772", - "UBERON:0001456", - "UBERON:0001021", - "UPHENO:0081700", - "UBERON:0011779", - "UBERON:0014892", - "HP:0010628", - "HP:0011799", - "UBERON:0011695", - "UPHENO:0033603", - "UBERON:0007100", - "UBERON:0005178", - "UBERON:0004537", - "UBERON:0004572", - "UPHENO:0087309", - "HP:0025015", - "UPHENO:0075655", - "UBERON:0015410", - "UBERON:0018674", - "UPHENO:0076776", - "UPHENO:0086797", - "UBERON:0003513", - "UBERON:0003509", - "UBERON:0000477", - "UPHENO:0033572", - "UPHENO:0080362", - "UBERON:0002201", - "UBERON:0003498", - "UBERON:0002049", - "UBERON:0004145", - "UBERON:0015228", - "UBERON:0002075", - "HP:0001643", - "UBERON:0005181", - "UBERON:0000915", - "UBERON:0007798", - "UBERON:0004716", - "UPHENO:0076810", - "UPHENO:0087334", - "HP:0030680", - "HP:0001626", - "UBERON:0004571", - "UPHENO:0015324", - "HP:0004231", - "UPHENO:0002678", - "HP:0003953", - "UPHENO:0025945", - "UPHENO:0081511", - "UPHENO:0026128", - "HP:0003974", - "UPHENO:0009399", - "HP:0001507", - "GO:0040007", - "HP:0001510", - "UPHENO:0081466", - "UPHENO:0031839", - "HP:0002818", - "UBERON:0001423", - "UPHENO:0081792", - "HP:0005773", - "UPHENO:0080187", - "HP:0011603", - "HP:0009821", - "UPHENO:0081204", - "UPHENO:0046540", - "UBERON:0003466", - "UBERON:0015001", - "UBERON:0002386", - "UBERON:0004905", - "UPHENO:0069294", - "UPHENO:0025593", - "UPHENO:0012541", - "UPHENO:0081091", - "UPHENO:0002751", - "UPHENO:0081313", - "HP:0003026", - "HP:0002973", - "HP:0006503", + "anatomical entity hypoplasia", + "increased size of the brain ventricle", + "septum", + "paired limb/fin segment", + "Ventriculomegaly", + "excretory system", + "absent kidney", + "Abnormality of the upper urinary tract", + "manual digit 1 plus metapodial segment", + "abdomen", + "lung lobe morphogenesis", + "abdominal segment of trunk", + "abdominal segment element", + "subdivision of skeletal system", + "absent kidney in the independent continuant", + "abdomen element", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "abnormal renal system", + "abnormal respiratory system", + "Renal agenesis", + "abnormal hematopoietic system", + "abnormal biological_process", + "Growth delay", + "kidney", + "abnormal dorsal telencephalic commissure morphology", + "alimentary part of gastrointestinal system", + "abnormal renal system morphology", + "Overfolded helix", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "cardiac septum", + "anucleate cell", + "abnormal number of anatomical enitites of type cell", + "Abnormal upper limb bone morphology", + "abnormally decreased number of anatomical entity", + "pectoral appendage skeleton", + "abnormal blood cell morphology", + "Abnormal cellular phenotype", + "myeloid cell", + "abnormal brain morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormally decreased number of cell", + "male reproductive organ", + "disconnected anatomical group", + "abnormal cell", + "abnormal hematopoietic cell morphology", + "digit 1", + "abnormal platelet morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "abnormally decreased number of platelet", + "multicellular organism", + "Thrombocytopenia", + "Abnormal nervous system physiology", + "Abnormality of the immune system", + "heart blood vessel", + "abnormal limb long bone morphology", + "abnormal small intestine morphology", + "eukaryotic cell", + "oxygen accumulating cell", + "Abnormal fundus morphology", + "Abnormality of bone marrow cell morphology", + "leukocyte", + "immune system", + "specifically dependent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + ], + }, + { + "id": "MONDO:0013499", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group P", + "xref": ["DOID:0111092", "GARD:15731", "OMIM:613951"], + "provided_by": "phenio_nodes", + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.", + "synonym": [ + "FANCP", + "Fanconi Anemia, complementation group type P", + "Fanconi anaemia caused by mutation in SLX4", + "Fanconi anaemia caused by mutation in Slx4", + "Fanconi anaemia complementation group type P", + "Fanconi anemia caused by mutation in SLX4", + "Fanconi anemia caused by mutation in Slx4", + "Fanconi anemia complementation group type P", + "Fanconi anemia, complementation group P", + "SLX4 Fanconi anaemia", + "SLX4 Fanconi anemia", + "Slx4 Fanconi anaemia", + "Slx4 Fanconi anemia", + ], + "namespace": "MONDO", + "has_phenotype": [ "HP:0002984", - "UPHENO:0012274", - "UPHENO:0086633", - "UPHENO:0087510", - "NCBITaxon:33208", - "HP:0410008", - "UBERON:0010314", - "HP:0009826", - "GO:0006259", - "OBI:0100026", - "GO:0005623", - "UPHENO:0004523", - "UPHENO:0076702", - "UBERON:0011250", + "HP:0009777", + "HP:0000957", + "HP:0000252", + "HP:0002860", + "HP:0001510", + "HP:0000581", + "HP:0001876", + "HP:0000347", + "HP:0009778", + "HP:0000414", + "HP:0001903", + "HP:0012745", + "HP:0000085", + "HP:0003221", + "HP:0004322", + "HP:0000365", + "HP:0000028", + "HP:0000125", + "HP:0001045", + ], + "has_phenotype_label": [ + "Hypoplasia of the radius", + "Absent thumb", + "Cafe-au-lait spot", + "Microcephaly", + "Squamous cell carcinoma", + "Growth delay", + "Blepharophimosis", + "Pancytopenia", + "Micrognathia", + "Short thumb", + "Bulbous nose", + "Anemia", + "Short palpebral fissure", + "Horseshoe kidney", + "Chromosomal breakage induced by crosslinking agents", + "Short stature", + "Hearing impairment", + "Cryptorchidism", + "Pelvic kidney", + "Vitiligo", + ], + "has_phenotype_count": 20, + "has_phenotype_closure": [ + "HP:0000086", + "GO:0022414", + "UPHENO:0053580", + "UPHENO:0005597", "UPHENO:0049367", - "UPHENO:0022529", - "UBERON:0010703", - "UBERON:0015023", - "UBERON:0003607", - "UPHENO:0087518", - "UPHENO:0076805", - "UBERON:0001017", - "UBERON:0003645", - "UBERON:0003129", - "UPHENO:0002830", - "HP:0007364", - "HP:0100547", - "NCBITaxon:6072", - "UPHENO:0002910", - "HP:0002011", - "HP:0009121", - "UPHENO:0002764", - "HP:0001172", - "HP:0000240", - "HP:0012443", - "HP:0012639", - "UPHENO:0081435", - "UBERON:0000948", - "HP:0040070", - "GO:0048519", - "UBERON:0002090", - "UPHENO:0000543", - "UBERON:0002471", - "UPHENO:0076718", + "UPHENO:0002598", + "UBERON:0004054", + "UBERON:0000473", + "UBERON:0001968", + "HP:0000078", + "UPHENO:0078452", + "GO:0048232", + "UPHENO:0049940", + "UPHENO:0052778", + "HP:0000032", + "CL:0000039", + "CL:0000413", + "UBERON:0000990", + "UPHENO:0049701", + "GO:0032504", + "UPHENO:0086198", + "HP:0000035", + "UPHENO:0005016", + "UBERON:0000463", + "UPHENO:0078729", + "HP:0008669", + "UBERON:0004176", + "GO:0007283", + "GO:0007276", + "UPHENO:0087547", + "CL:0000408", + "UBERON:0003101", + "UPHENO:0050101", + "UPHENO:0002378", + "UPHENO:0049985", + "UPHENO:0085194", + "GO:0019953", + "GO:0003006", + "GO:0048609", + "HP:0012243", + "HP:0000811", + "GO:0000003", + "UBERON:0005156", + "UPHENO:0003055", + "UPHENO:0049970", + "CL:0000586", + "UPHENO:0085873", + "UPHENO:0002371", + "UPHENO:0086201", + "UPHENO:0087802", + "GO:0050954", + "HP:0000598", + "HP:0000028", + "UPHENO:0052231", + "GO:0007605", + "UPHENO:0005433", + "UPHENO:0052178", + "UPHENO:0050625", + "UPHENO:0005518", + "UPHENO:0052970", + "UBERON:0002105", + "HP:0012874", + "UPHENO:0002332", + "UPHENO:0081424", + "UPHENO:0081423", + "UPHENO:0080351", + "UPHENO:0075159", + "GO:0010556", + "GO:0009890", + "GO:0010605", + "GO:0031324", + "GO:0006259", + "GO:0071824", + "GO:0065007", + "UPHENO:0050021", + "GO:0010629", + "GO:0031049", + "GO:0060255", + "GO:0009889", + "GO:0031323", + "GO:0009892", + "GO:0090304", + "GO:0006996", "UPHENO:0050116", - "UBERON:0010323", - "UBERON:0011137", - "UBERON:0013768", - "NCBITaxon:131567", - "UPHENO:0008523", - "NCBITaxon:1", - "HP:0000707", - "HP:0009815", - "HP:0040195", + "HP:0003221", + "UPHENO:0049990", + "UPHENO:0050121", + "GO:0005623", + "UPHENO:0049700", + "GO:0010558", + "GO:0006325", + "UPHENO:0085875", + "GO:0050794", + "GO:0019222", + "GO:0006139", + "GO:0046483", + "HP:0001939", + "UPHENO:0050845", + "HP:0003220", + "GO:0050789", + "GO:0044238", + "UBERON:0011138", + "UBERON:0002513", + "GO:0048523", + "HP:0000079", + "HP:0011017", + "NCBITaxon:33208", + "UPHENO:0002536", + "HP:0006501", "HP:0000152", - "UBERON:0001890", - "NCBITaxon:33154", - "UPHENO:0081566", + "GO:0032501", + "UBERON:0013701", "UBERON:0000073", - "HP:0009777", - "UPHENO:0081790", - "PR:000050567", + "GO:0034641", + "HP:0000929", + "UPHENO:0060026", + "HP:0009380", + "UPHENO:0054970", + "UBERON:0001016", + "UPHENO:0020888", + "UPHENO:0082875", + "HP:0011355", + "UPHENO:0008523", + "UPHENO:0087518", + "GO:0043473", + "BFO:0000015", + "UPHENO:0049587", "UPHENO:0002844", - "HP:0001324", - "UBERON:0034923", - "UPHENO:0079876", - "UPHENO:0078606", - "UPHENO:0002896", - "UPHENO:0015280", - "HP:0009825", - "HP:0009824", - "HP:0045060", - "UBERON:5002544", - "UPHENO:0087907", - "UPHENO:0015290", - "HP:0040068", - "HP:0009802", - "HP:0009767", - "UPHENO:0025701", - "UBERON:0005944", - "UPHENO:0008668", - "UPHENO:0080555", - "UBERON:0003821", - "UPHENO:0080200", - "UBERON:0003221", - "UBERON:0001008", - "UBERON:0012357", - "UPHENO:0079870", - "UPHENO:0086589", - "UBERON:0005897", - "UBERON:0001630", - "UBERON:0001436", - "UBERON:0015043", - "UBERON:0009569", - "UBERON:0002374", - "UBERON:0000033", - "UBERON:0001460", - "UBERON:0010707", - "UPHENO:0002905", - "UPHENO:0084458", - "UPHENO:0087369", - "UPHENO:0080191", - "HP:0001167", - "UBERON:0002495", - "UBERON:0010740", + "HP:0030791", + "UBERON:0002097", + "UBERON:0002193", + "UBERON:0000004", + "UPHENO:0082682", + "NCBITaxon:1", + "HP:0001034", + "UPHENO:0076739", + "UPHENO:0080221", + "UPHENO:0080325", + "UBERON:0015203", + "UPHENO:0002642", + "NCBITaxon:2759", "UBERON:5001463", - "GO:0065007", - "UBERON:0010543", - "UBERON:0012150", - "HP:0040072", - "UBERON:0002204", - "HP:0040064", - "HP:0009380", - "UPHENO:0009341", - "UPHENO:0084448", - "HP:0009115", - "UBERON:0007811", - "UPHENO:0076765", - "UBERON:0003460", - "HP:0010009", - "UPHENO:0049874", - "PATO:0000001", - "UPHENO:0084447", - "HP:0002817", - "UPHENO:0076710", - "HP:0009834", - "UBERON:0010363", - "UPHENO:0076740", - "UPHENO:0087496", - "UBERON:0012358", - "UPHENO:0026144", - "UPHENO:0009400", - "HP:0011297", - "UBERON:0002234", - "UBERON:0000055", + "CL:0000738", + "UPHENO:0088116", + "UPHENO:0002905", + "UBERON:0002199", + "HP:0000077", + "UPHENO:0076723", + "NCBITaxon:131567", "UBERON:0002544", - "UPHENO:0050021", - "UPHENO:0002964", - "UBERON:0012139", - "UBERON:0005090", - "UPHENO:0049587", - "HP:0009851", - "UBERON:0002470", - "UBERON:0010741", + "UPHENO:0086700", + "UPHENO:0026506", + "HP:0008069", + 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"UPHENO:0050113", + "GO:0008152", ], "has_phenotype_closure_label": [ - "aplasia or hypoplasia of carpal bone", - "articulation", - "articular system", - "Abnormal joint morphology", - "carpal skeleton", - "mesopodial skeleton", - "Aplasia/Hypoplasia involving the carpal bones", - "Absent scaphoid", - "proximal carpal bone", - "carpus endochondral element", - "skeletal joint", - "proximal mesopodial bone", - "proximal carpal endochondral element", - "multi organ part structure", - "abnormal nerve", - "radiale", - "Abnormality of the peripheral nervous system", - "skeletal muscle organ, vertebrate", - "abnormality of nervous system physiology", - "Abnormal peripheral nerve morphology by anatomical site", - "face", - "Abnormal nervous system physiology", - "Abnormality of facial musculature", - "mesopodium bone", - "paralysed cranial nerve", - "Facial palsy", - "Abnormality of facial soft tissue", - "abnormal carpal region", - "subdivision of head", - "muscle organ", - "gustatory system", - "craniocervical region musculature", - "abnormal skeletal joint morphology in the pectoral complex", - "abnormal muscle organ morphology", - "Abnormal skeletal muscle morphology", - "abnormal musculature", - "Muscle weakness", - "neuron projection bundle", - "facial muscle", - "Abnormality of the musculature", - "facial nerve", - "cranial neuron projection bundle", - "Abnormal cranial nerve morphology", - "skeletal musculature", - "decreased anatomical entity strength", - "Abnormal muscle physiology", - "Abnormal peripheral nervous system morphology", - "musculature of face", - "aplastic carpal bone", - "musculature of body", - "multi cell part structure", - "Cranial nerve paralysis", - "paralysed anatomical entity", - "abnormal peripheral nervous system", - "abnormality of muscle organ physiology", - "decreased muscle organ strength", - "Abnormality of the seventh cranial nerve", - "abnormality of anatomical entity physiology", - "artery", - "vasculature", - "Abnormality of the wrist", - "cardiovascular system", - "blood vessel", - "Abnormal vascular morphology", - "systemic arterial system", - "anatomical conduit", - "arterial blood vessel", - "trunk blood vessel", - "great vessel of heart", - "anatomical cluster", - "abnormal radiale", - "Patent ductus arteriosus", - "circulatory organ", - "viscus", - "thoracic segment organ", - "vasculature of organ", - "vasculature of trunk", - "thoracic segment of trunk", - "vascular system", - "abnormal vasculature", - "Abnormal blood vessel morphology", - "abnormal heart morphology", - "embryonic cardiovascular system", - "disconnected anatomical group", - "Abnormal morphology of the great vessels", - "abnormal incomplete closing of the anatomical entity", - "Congenital malformation of the great arteries", - "heart plus pericardium", - "abnormal artery morphology", - "Abnormality of cardiovascular system morphology", - "heart vasculature", - "abnormal artery morphology in the independent continuant", - "Abnormality of the vasculature", - "abnormal great vessel of heart morphology", - "Weakness of facial musculature", - "abnormal cardiovascular system", - "abnormal blood vessel morphology", - "primary circulatory organ", - "vessel", - "abnormal vascular system morphology", - "abnormal peripheral nervous system morphology", - "abnormal ductus arteriosus morphology", - "aplastic forelimb zeugopod bone", - "Aplasia involving forearm bones", - "absent radius bone in the forelimb", - "absent radius bone in the independent continuant", - "absent radius bone", - "Absent forearm bone", - "growth", - "abnormal growth", - "carpal region", - "Growth delay", - "delayed biological_process", - "zeugopodial skeleton", - "radius bone hypoplasia", - "Short long bone", - "anatomical entity hypoplasia", - "decreased size of the anatomical entity in the pectoral complex", - "forelimb zeugopod skeleton", - "decreased size of the anatomical entity in the independent continuant", - "cranial or facial muscle", - "abnormal forelimb zeugopod bone", - "Abnormal forearm bone morphology", - "Aplasia/hypoplasia involving forearm bones", - "decreased length of anatomical entity", - "forelimb zeugopod bone hypoplasia", - "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "arm bone", - "blood vasculature", - "radius bone", - "Hypoplasia of the radius", - "decreased length of long bone", - "Limb undergrowth", - "Abnormal forearm morphology", + "Pelvic kidney", + "Ectopic kidney", + "reproductive process", + "Abnormal testis morphology", + "abnormal male reproductive system morphology", + "Abnormality of male external genitalia", + "Abnormal male reproductive system physiology", + "male gamete generation", + "sexual reproduction", + "developmental process involved in reproduction", + "multicellular organismal reproductive process", + "decreased developmental process", + "absent gamete", + "sperm", + "reproductive structure", + "decreased qualitatively developmental process", + "decreased spermatogenesis", + "external male genitalia", + "testis", + "Abnormal reproductive system morphology", + "Azoospermia", + "male germ cell", + "male gamete", + "abnormally localised anatomical entity in independent continuant", + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "Abnormal external genitalia", + "organism substance", + "semen", + "reproduction", + "abnormal testis morphology", + "abnormal number of anatomical enitites of type sperm", + "male reproductive system", + "abnormal location of anatomical entity", + "spermatogenesis", + "absent anatomical entity in the semen", + "abnormal developmental process involved in reproduction", + "Functional abnormality of male internal genitalia", + "abnormal gamete", + "Abnormality of reproductive system physiology", + "haploid cell", + "reproductive system", + "Cryptorchidism", + "external genitalia", + "internal genitalia", + "gonad", + "abnormal reproductive system morphology", + "abnormal internal genitalia", + "germ cell", + "gamete", + "abnormality of reproductive system physiology", + "absent germ cell", + "decreased qualitatively sensory perception of mechanical stimulus", + "abnormal developmental process", + "sensory perception", + "decreased sensory perception of sound", + "abnormal sensory perception", + "Hearing abnormality", + "abnormality of anatomical entity physiology", + "ear", + "multicellular organismal process", + "sensory perception of sound", + "system process", + "abnormal anatomical entity topology in independent continuant", + "decreased qualitatively sensory perception of sound", + "Short stature", + "abnormal size of multicellular organism", + "decreased height of the multicellular organism", + "abnormality of multicellular organism height", + "abnormal primary metabolic process", + "Abnormality of metabolism/homeostasis", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "vestibulo-auditory system", + "protein-DNA complex organization", + "nervous system process", + "abnormal nitrogen compound metabolic process", + "abnormal organelle organization", + "abnormal reproductive process", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "regulation of cellular metabolic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process", + "protein-containing complex organization", + "regulation of biological process", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", + "cellular metabolic process", + "abnormal cellular component organization", + "Chromosome breakage", + "negative regulation of gene expression", + "abnormal metabolic process", + "Chromosomal breakage induced by crosslinking agents", + "metabolic process", + "cellular process", + "abnormal DNA metabolic process", + "Abnormality of head or neck", "craniocervical region", - "Morphological central nervous system abnormality", - "zeugopod", - "abnormal anatomical entity morphology in the brain", - "abnormal brain morphology", + "regional part of brain", "aplasia or hypoplasia of telencephalon", - "organism", + "Aplasia/Hypoplasia involving the central nervous system", + "facial bone hypoplasia", + "abnormal external genitalia", + "Abnormal renal morphology", + "regional part of nervous system", + "abnormal external male genitalia", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "visual system", + "Abnormal skull morphology", + "Abnormal cellular immune system morphology", + "Abnormal cerebral morphology", + "arm bone", + "main body axis", + "abnormal kidney morphology", + "Narrow palpebral fissure", + "renal system", + "multi-tissue structure", "axial skeleton plus cranial skeleton", - "paired limb/fin skeleton", - "postcranial axial skeletal system", + "abnormality of internal male genitalia physiology", + "Abnormality of the nervous system", + "sensory system", + "abnormal nervous system", + "organic substance metabolic process", + "Abnormality of the head", + "abnormal pigmentation", + "pigmentation", + "decreased length of forelimb zeugopod bone", + "changed biological_process rate in independent continuant", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "Abnormality of skin pigmentation", + "skeleton of limb", + "neural crest-derived structure", + "aplasia or hypoplasia of skull", + "increased qualitatively biological_process", + "anatomical collection", + "All", + "increased biological_process in skin of body", + "abnormally increased volume of nose", + "increased biological_process", + "abnormal myeloid cell morphology", + "increased pigmentation in independent continuant", + "Abnormal oral morphology", + "abnormal anatomical entity morphology", + "increased pigmentation", + "increased qualitatively biological_process in independent continuant", + "absent sperm", + "limb segment", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "Cafe-au-lait spot", + "primary subdivision of skull", + "obsolete cellular nitrogen compound metabolic process", + "abnormal integument", + "biological_process", + "obsolete multicellular organism reproduction", + "cellular organisms", "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "Abnormality of chromosome stability", + "immaterial entity", + "abnormally localised testis", + "absent anatomical entity in the independent continuant", + "Aplasia/Hypoplasia of the thumb", + "bone cell", + "Abnormal myeloid cell morphology", + "abnormal manus morphology", + "Neoplasm", + "digit", + "Hyperpigmentation of the skin", + "abnormal manual digit 1 morphology", + "Short thumb", + "integumental system", "absent anatomical entity", - "central nervous system", - "Abnormal cranial nerve physiology", - "forebrain", - "Eukaryota", - "Abnormality of the musculoskeletal system", - "abnormal size of skull", - "abnormal organelle organization", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "gamete generation", + "protein-containing material entity", + "abnormal skeletal system morphology", + "Abnormal digit morphology", + "abnormal immune system morphology", + "Absent thumb", + "abnormal autopod region morphology", + "agenesis of anatomical entity", + "ectoderm-derived structure", + "abnormal anatomical entity morphology in the manus", + "abnormal facial skeleton morphology", + "negative regulation of cellular process", + "abnormal limb", + "bone marrow", + "skeleton of manus", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "organism", + "Neoplasm of the skin", + "anatomical system", + "segment of autopod", + "organic cyclic compound metabolic process", + "aplastic manual digit 1", + "dentary", + "independent continuant", + "abnormal growth", + "abnormal leukocyte morphology", + "abnormal size of anatomical entity", + "material anatomical entity", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", + "manual digit plus metapodial segment", + "Abnormal forearm morphology", + "abnormal anatomical entity", + "decreased size of the anatomical entity in the independent continuant", + "abnormal cellular process", + "secretory cell", + "Abnormal nervous system morphology", + "abnormal limb bone", + "sense organ", + "bone element", + "anatomical conduit", + "abnormal limb morphology", + "forelimb zeugopod skeleton", + "facial skeleton", + "paired limb/fin", + "Hypoplasia of the radius", "abnormal head morphology", + "abnormal multicellular organismal reproductive process", + "manual digit", + "U-shaped anatomical entity", + "multi-limb segment region", + "endochondral element", + "Forearm undergrowth", + "abnormal biological_process in independent continuant", + "decreased size of the anatomical entity", + "skeletal element", + "zeugopod", + "body proper", + "central nervous system", + "Abnormality of limb bone", "head", - "ectoderm-derived structure", - "abnormal craniocervical region morphology", - "abnormal skull morphology", - "Abnormal digit morphology", - "Abnormality of skull size", - "abnormal cardiovascular system morphology", - "Abnormality of head or neck", - "abnormal carpal bone morphology", - "abnormal DNA metabolic process", - "abnormal chromatin organization", + "digit plus metapodial segment", + "external soft tissue zone", + "abnormal skin of body morphology", + "increased biological_process in independent continuant", + "increased size of the anatomical entity", + "limb", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "trunk region element", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", + "zeugopodial skeleton", + "limb long bone", + "Short forearm", + "delayed biological_process", + "subdivision of digestive tract", + "limb endochondral element", + "Macule", + "negative regulation of biosynthetic process", + "long bone", + "material entity", + "decreased width of the palpebral fissure", + "Abnormal appendicular skeleton morphology", + "Abnormal skeletal morphology", + "Abnormal forebrain morphology", "forelimb", - "abnormal anatomical entity morphology in the skeleton of manus", + "decreased size of the anatomical entity in the pectoral complex", "autopodial skeleton", - "absent carpal bone in the limb", - "Abnormal morphology of the radius", - "bone of free limb or fin", - "abnormal anatomical entity", - "paired limb/fin", - "Abnormal appendicular skeleton morphology", - "Abnormality of upper limb joint", - "abnormal anatomical entity morphology in the manus", - "Aplasia/hypoplasia involving the skeleton", - "root", - "abnormal central nervous system morphology", - "carpal bone", - "Abnormal renal morphology", - "Abnormality of limbs", - "ductus arteriosus", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal proximal phalanx of manus morphology", - "abnormal metacarpal bone of digit 1 morphology", - "Aplasia involving bones of the extremities", - "Aplasia/Hypoplasia of the 1st metacarpal", - "system", - "Aplasia involving bones of the upper limbs", - "cranial nerve", - "pectoral appendage", - "abnormal nervous system", - "short bone", - "lateral structure", - "limb", - "mesoderm-derived structure", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormality of the face", - "cellular component organization or biogenesis", - "Phenotypic abnormality", - "abnormal digit morphology", - "Aplasia/Hypoplasia of the proximal phalanges of the hand", - "phenotype", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal manus", - "manual digit 1", - "abnormal metacarpal bone morphology", - "abnormal forelimb morphology", - "absent anatomical entity in the skeletal system", - "abnormal limb long bone morphology", + "Abnormal facial skeleton morphology", + "Aplasia/hypoplasia of the extremities", + "decreased qualitatively reproductive process", + "Hypoplastic facial bones", + "Aplasia/hypoplasia involving bones of the hand", + "negative regulation of macromolecule biosynthetic process", + "germ line cell", + "bone element hypoplasia in independent continuant", + "abnormal gamete generation", + "leukocyte", + "abnormal skin of body", + "Abnormality of bone marrow cell morphology", "abnormal cellular metabolic process", - "acropodium region", - "abnormal carpal bone", - "manual digit metacarpus endochondral element", + "Aplasia/Hypoplasia of facial bones", + "musculoskeletal system", + "absent digit", + "phenotype", + "Abnormal cell morphology", + "quality", + "anatomical entity hypoplasia", + "forelimb bone", + "Morphological central nervous system abnormality", + "Abnormality of the urinary system", + "forelimb skeleton", + "genitourinary system", + "primary metabolic process", + "Abnormality of the skin", + "forelimb endochondral element", + "abnormal number of anatomical enitites of type anatomical entity", "Finger aplasia", - "digitopodium region", - "manual digit 1 metacarpus endochondral element", - "aplasia or hypoplasia of metacarpal bone", - "abnormal anatomical entity morphology in the independent continuant", - "segment of manus", - "multi-limb segment region", - "endochondral element", - "Abnormal metacarpal morphology", - "abnormal nervous system morphology", - "abnormal cell", - "bone element", - "radius endochondral element", - "trunk", - "digit 1 plus metapodial segment", - "nervous system", - "skeleton of limb", + "abnormal number of anatomical enitites of type leukocyte", "limb bone", - "digit 1 digitopodial skeleton", - "manual digit digitopodial skeleton", - "Aplasia/Hypoplasia involving the metacarpal bones", - "abnormal arm", - "aplasia or hypoplasia of manual digit", - "absent forelimb zeugopod bone", - "absent metacarpal bone in the independent continuant", - "autopodial extension", - "abnormal kidney", - "acropodial skeleton", - "abnormal cranial nerve morphology", - "biological_process", - "subdivision of skeleton", - "protein-containing material entity", - "abnormal limb bone morphology", - "abnormal limb bone", - "paired limb/fin segment", - "Aplasia of the proximal phalanges of the hand", - "Aplasia/hypoplasia involving bones of the hand", - "systemic artery", - "structure with developmental contribution from neural crest", - "Abnormal long bone morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "manual digitopodium region", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal forebrain morphology", - "manus", - "abnormal craniocervical region", - "Microcephaly", - "manual digit plus metapodial segment", - "phalanx endochondral element", - "limb skeleton subdivision", - "skeleton of digitopodium", + "abnormal craniocervical region morphology", + "continuant", + "lateral structure", + "integument", "skeleton of pectoral complex", - "Abnormality of the nervous system", - "abnormal cellular component organization", - "appendicular skeletal system", - "Abnormal heart morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormal skeletal morphology", - "abnormal anatomical entity length", - "trunk region element", - "pectoral complex", - "anatomical collection", - "Forearm undergrowth", - "Aplasia/Hypoplasia of fingers", - "abnormal size of anatomical entity", - "metacarpal bone of digit 1", - "regional part of brain", - "metapodium region", - "abnormal appendicular skeleton morphology", - "Eumetazoa", - "segment of autopod", - "heart", - "upper limb segment", - "decreased size of the anatomical entity", - "abnormally localised anatomical entity in independent continuant", - "musculoskeletal system", + "decreased length of anatomical entity in independent continuant", + "paired limb/fin segment", "compound organ", - "autopod region", - "abnormal upper urinary tract", - "macromolecule metabolic process", - "bone of pectoral complex", - "obsolete nitrogen compound metabolic process", - "proximal phalanx", - "manual digit 1 or 5", - "metapodial skeleton", - "abnormally localised anatomical entity", - "Partial absence of thumb", - "digit 1 or 5", - "absent manual digit", - "abnormality of cranial nerve physiology", - "Abnormal hand morphology", - "Abnormal axial skeleton morphology", - "appendicular skeleton", - "All", - "absent anatomical entity in the forelimb", - "metacarpus region", - "abnormal manual digit morphology in the independent continuant", - "digit plus metapodial segment", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", - "manual digit phalanx endochondral element", - "abnormal location of anatomical entity", - "Aplasia of the 1st metacarpal", - "abnormal forelimb zeugopod morphology", - "manual digit 1 digitopodial skeleton", - "Absent thumb", - "manus bone", + "eye", "skeleton", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", "Abnormal finger morphology", - "abnormal manual digit 1 morphology", - "Abnormal cerebral morphology", - "aplasia or hypoplasia of manual digit 1 phalanx", - "Abnormality of thumb phalanx", - "Abnormal finger phalanx morphology", - "abnormal phalanx of manus morphology", - "absent metacarpal bone", - "abnormal facial muscle", - "Opisthokonta", - "metapodium bone", - "delayed growth", - "metacarpus skeleton", - "abnormal manus morphology", - "cell", - "phenotype by ontology source", - "forelimb long bone", - "circulatory system", + "Abnormal erythrocyte morphology", + "forelimb zeugopod", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "appendage", + "root", + "subdivision of skeleton", + "Aplasia/Hypoplasia of the radius", + "endochondral bone", + "paired limb/fin skeleton", + "abnormal spermatogenesis", + "organelle organization", + "postcranial axial skeletal system", + "abnormal digit morphology", + "skeleton of lower jaw", + "subdivision of organism along appendicular axis", + "skull", + "limb skeleton subdivision", + "abnormal forelimb zeugopod bone", + "Abnormal ocular adnexa morphology", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "decreased length of anatomical entity", + "bone of pectoral complex", + "entity", "subdivision of skeletal system", - "chromatin organization", - "manual digit 1 phalanx", - "upper urinary tract", - "skeletal system", - "manual digit 1 phalanx endochondral element", - "autopod bone", - "decreased length of anatomical entity in independent continuant", - "autopod endochondral element", - "Aplasia of the phalanges of the hand", - "phalanx of manus", - "Chromosome breakage", - "abnormal head", - "digit 1", - "regional part of nervous system", - "abnormal skeletal joint morphology in the independent continuant", - "abnormal face", - "aplastic anatomical entity", - "abnormal primary metabolic process", - "Abnormality of the hand", - "subdivision of organism along main body axis", - "Aplasia/Hypoplasia of the thumb", - "manual digit bone", - "absent anatomical entity in the metacarpus region", - "Abnormality of limb bone", - "skeleton of manual digitopodium", - "axial skeletal system", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal genitourinary system", - "Aplasia/hypoplasia involving bones of the extremities", - "anterior region of body", + "nervous system", + "forelimb zeugopod bone", + "Abnormality of brain morphology", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", + "forelimb zeugopod bone hypoplasia", + "abnormal limb bone morphology", + "abnormal phenotype by ontology source", + "decreased size of the mandible", + "absent manual digit", + "abnormal radius bone morphology", + "organ system subdivision", + "decreased length of palpebral fissure", + "abnormal blood cell", + "erythrocyte", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "membrane bone", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "system", + "bone marrow cell", + "appendicular skeletal system", + "Abnormal nasal morphology", "absent anatomical entity in the multicellular organism", - "long bone", - "anatomical entity hypoplasia in independent continuant", - "Short forearm", + "hematopoietic system", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively biological_process", + "anatomical entity", "bone of appendage girdle complex", - "proximal mesopodial endochondral element", - "brain", - "Aplasia/Hypoplasia of the phalanges of the hand", - "primary metabolic process", - "aplastic manual digit 1 phalanx", - "abdominal segment element", - "absent digit", - "abnormally localised kidney", - "Aplasia of metacarpal bones", - "abnormal phalanx morphology", - "aplasia or hypoplasia of proximal phalanx of manus", - "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the pectoral complex", + "decreased biological_process", + "radius bone hypoplasia", + "aplasia or hypoplasia of anatomical entity", + "absent sperm in the semen", + "Abnormal long bone morphology", "absent anatomical entity in the limb", - "abnormal postcranial axial skeleton morphology", - "telencephalon", - "manual digit 1 plus metapodial segment", - "Aplasia/Hypoplasia involving the central nervous system", - "protein-DNA complex organization", - "organ", - "programmed DNA elimination by chromosome breakage", + "Abnormal forearm bone morphology", + "abnormal pigmentation in independent continuant", + "Abnormality of the ocular adnexa", + "abnormally localised anatomical entity", + "Micrognathia", + "Microcephaly", + "Abnormality of the musculoskeletal system", + "abnormality of ear physiology", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "Abnormality of digestive system morphology", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormal arm", + "radius endochondral element", + "Aplasia/hypoplasia involving forearm bones", + "abnormal nose tip morphology", + "obsolete cellular aromatic compound metabolic process", "organism subdivision", - "thoracic cavity element", - "Abnormality of the kidney", - "cavitated compound organ", - "abnormal limb", - "digit", - "Abnormality of the skeletal system", - "abdominal segment of trunk", - "individual digit of digitopodial skeleton", - "body proper", - "abdomen element", - "subdivision of trunk", - "forelimb zeugopod", - "Abnormal nervous system morphology", - "genitourinary system", - "abnormal manual digit morphology in the manus", - "Ectopic kidney", - "regulation of cellular metabolic process", - "regulation of biological process", - "Abnormal thumb morphology", - "thoracic segment blood vessel", + "organ", + "abnormal male reproductive organ morphology", + "occurrent", + "skeletal system", + "motile cell", + "upper limb segment", + "appendicular skeleton", + "abnormal upper urinary tract", + "Limb undergrowth", + "abnormal face morphology", "arm", - "abnormal opening of the anatomical entity", - "subdivision of organism along appendicular axis", - "absent anatomical entity in the independent continuant", - "abnormal limb morphology", - "bone element hypoplasia in independent continuant", - "Abnormality of the cardiovascular system", - "Abnormal cellular physiology", - "multi-tissue structure", - "abnormal biological_process", - "abnormal anatomical entity morphology", - "cellular component organization", - "musculature", - "Abnormal skull morphology", - "Abnormality of the scaphoid", - "nucleobase-containing compound metabolic process", - "Abnormal 1st metacarpal morphology", - "heart blood vessel", - "process", - "organ system subdivision", + "abnormal nose morphology", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", "decreased size of the radius bone", - "skull", - "phalanx", - "multicellular organism", - "Carpal bone aplasia", - "agenesis of anatomical entity", - "abnormal renal system", - "postcranial axial skeleton", - "abnormal kidney morphology", - "negative regulation of macromolecule biosynthetic process", - "Abnormality of the genitourinary system", - "aplasia or hypoplasia of anatomical entity", - "aplastic phalanx of manus", - "forelimb zeugopod bone", - "quality", - "negative regulation of cellular biosynthetic process", - "aplasia or hypoplasia of radius bone", - "main body axis", - "cellular organisms", - "biological regulation", - "anatomical system", - "negative regulation of macromolecule metabolic process", - "metapodium bone 1", - "organic substance metabolic process", - "abnormal coronary vessel morphology", - "appendage", - "material anatomical entity", - "abdomen", - "abnormal metabolic process", - "coronary vessel", + "Abnormal cellular phenotype", + "subdivision of trunk", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "bone of lower jaw", + "mandible hypoplasia", "aplasia or hypoplasia of skeleton", - "aplasia or hypoplasia of metacarpal bone of digit 1", - "abnormal forebrain morphology", - "craniocervical muscle", - "negative regulation of gene expression", - "digitopodium bone", - "limb segment", - "abnormal anatomical entity topology in independent continuant", - "negative regulation of metabolic process", - "manual digitopodium bone", - "abnormal skeletal system morphology", - "abnormal facial nerve", - "peripheral nervous system", - "obsolete cell", - "occurrent", - "regulation of cellular process", - "regulation of gene expression", - "abnormal nitrogen compound metabolic process", - "appendage girdle complex", - "abnormal telencephalon morphology", - "outflow tract", - "cellular process", + "abnormal craniocervical region", + "abnormal mouth", + "male organism", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "digit 1 plus metapodial segment", "abnormal skeletal system", - "cellular metabolic process", - "abnormal anatomical entity morphology in the heart", - "endochondral bone", - "specifically dependent continuant", - "nerve", - "limb long bone", - "absent radiale", + "subdivision of head", + "appendage girdle complex", + "macromolecule metabolic process", + "manual digit 1", "regulation of metabolic process", - "arterial system", + "autopodial extension", + "abnormal face", + "abnormal telencephalon morphology", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "tissue", + "forelimb long bone", + "abnormal size of skull", + "cell", + "Abnormality of the mouth", + "Eumetazoa", + "negative regulation of cellular metabolic process", + "Eukaryota", + "decreased length of manual digit", + "abnormal central nervous system morphology", + "abnormal reproductive system", + "abnormal kidney", + "abnormal forebrain morphology", + "abnormal nervous system morphology", + "abnormal cell morphology", + "telencephalon", + "forebrain", + "blood cell", + "head bone", + "Abnormality of the genitourinary system", + "cranial skeletal system", + "postcranial axial skeleton", + "Decreased head circumference", + "pectoral complex", + "dermatocranium", + "Abnormal axial skeleton morphology", + "erythroid lineage cell", + "obsolete heterocycle metabolic process", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", + "mesoderm-derived structure", + "Squamous cell carcinoma", + "delayed growth", + "axial skeletal system", + "Growth abnormality", + "aplasia or hypoplasia of manual digit", + "face", + "abnormal orbital region", + "Abnormal localization of kidney", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", + "kidney", + "abnormal biological_process", + "Growth delay", + "digestive system element", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "decreased width of the anatomical entity", + "Abnormality of the upper urinary tract", + "Vitiligo", + "acropodium region", + "Short palpebral fissure", + "Abnormal eyelid morphology", + "multi organ part structure", + "hemolymphoid system", + "organ part", + "Abnormality of the orbital region", + "Abnormal size of the palpebral fissures", + "non-connected functional system", + "orbital region", + "camera-type eye", + "Abnormality of the hand", + "radius bone", + "Anemia", + "palpebral fissure", + "Abnormality of the ear", + "eyelid", + "Blepharophimosis", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "abdomen element", + "reproductive organ", + "Short long bone", + "abnormal skull morphology", + "abnormal palpebral fissure", + "Abnormal mandible morphology", + "abnormally decreased number of cell", + "abnormal size of palpebral fissure", + "Non-obstructive azoospermia", + "abnormal ocular adnexa", "abnormal bone of pectoral complex morphology", - "organic cyclic compound metabolic process", - "obsolete cellular aromatic compound metabolic process", - "Abnormality of the upper urinary tract", - "Aplasia/Hypoplasia of the phalanges of the thumb", - "obsolete cellular nitrogen compound metabolic process", - "kidney", + "orifice", + "ocular adnexa", + "simple eye", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "manus", + "abnormal eyelid morphology", + "decreased height of the anatomical entity", + "regulation of cellular process", + "Abnormality of the face", + "phenotype by ontology source", + "abnormal ocular adnexa morphology", + "Abnormality of the palpebral fissures", + "abnormal hematopoietic system", + "Abnormality of the immune system", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "abnormal limb long bone morphology", + "eukaryotic cell", + "hematopoietic cell", + "anucleate cell", + "changed biological_process rate", + "external nose", + "oxygen accumulating cell", + "nucleate cell", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "abnormal number of anatomical enitites of type cell", + "sensory perception of mechanical stimulus", + "skin of body", + "Abnormal upper limb bone morphology", + "abnormally decreased number of anatomical entity", + "Abnormal immune system morphology", + "pectoral appendage skeleton", + "abnormal blood cell morphology", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "absent sperm in the independent continuant", + "platelet", + "abnormal brain morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal immune system", + "abnormal hematopoietic system morphology", "abnormal programmed DNA elimination by chromosome breakage", - "Abnormality of brain morphology", - "abnormal cellular process", - "regulation of biosynthetic process", - "abnormal skeletal joint morphology", - "decreased length of forelimb zeugopod bone", - "Aplasia/hypoplasia of the extremities", - "absent carpal bone in the independent continuant", - "abnormal systemic artery morphology", - "Decreased head circumference", - "mesopodium region", - "Absent radius", - "nucleic acid metabolic process", - "nerve of head region", - "metabolic process", - "abnormal phenotype by ontology source", - "negative regulation of cellular metabolic process", - "skeletal musculature of head", - "abnormal long bone morphology", - "entity", - "protein-containing complex organization", - "aplastic metacarpal bone of digit 1", - "Abnormality of the urinary system", - "anatomical structure", - "Abnormality of metabolism/homeostasis", - "renal system", + "specifically dependent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + "male reproductive organ", + "disconnected anatomical group", + "abnormal cell", + "cavitated compound organ", + "Abnormal leukocyte count", + "primary subdivision of cranial skeletal system", + "abnormal hematopoietic cell morphology", + "digit 1", + "abnormal platelet morphology", + "Abnormal platelet morphology", + "Abnormal leukocyte morphology", + "internal male genitalia", + "programmed DNA elimination", + "obsolete cell", + "decreased length of long bone", + "digestive system", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "abnormally decreased number of platelet", + "Abnormal platelet count", + "nucleobase-containing compound metabolic process", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "abnormal manus", + "bone element hypoplasia in face", + "digit 1 or 5", + "U-shaped kidney", + "bone of jaw", + "subdivision of tube", + "aplasia or hypoplasia of mandible", + "Abnormality of the digestive system", + "abnormal forelimb morphology", + "abnormal digestive system morphology", + "abnormal digit", + "lower jaw region", + "Pancytopenia", + "decreased width of the anatomical entity in independent continuant", + "abnormal head", + "jaw region", + "abnormality of anatomical entity height", + "subdivision of organism along main body axis", + "dermal skeletal element", + "Abnormality of the integument", + "increased size of the anatomical entity in independent continuant", + "abnormal male reproductive system", + "abnormal mouth morphology", + "mouth", + "abnormal mandible morphology", + "abnormal head bone morphology", + "Aplasia/Hypoplasia involving bones of the skull", + "Abnormality of body height", + "tube", + "Abnormality of the genital system", + "intramembranous bone", + "structure with developmental contribution from neural crest", + "bone of craniocervical region", + "anatomical entity hypoplasia in face", + "mandible", + "immune system", + "facial bone", + "Abnormality of thrombocytes", "Upper limb undergrowth", + "jaw skeleton", + "dermal bone", + "negative regulation of biological process", + "digestive tract", "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "aplastic manual digit 1", - "continuant", - "regulation of macromolecule metabolic process", - "regulation of cellular biosynthetic process", - "conceptus", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormality of limb bone morphology", - "aplasia or hypoplasia of phalanx of manus", - "cranial muscle", - "independent continuant", - "Abnormal proximal phalanx morphology of the hand", - "forelimb skeleton", - "absent metacarpal bone in the metacarpus region", - "skeleton of manual acropodium", - "axial musculature", + "dermal skeleton", + "abnormal digestive system", + "abnormal ear", + "Abnormal jaw morphology", + "abnormal jaw skeleton morphology", + "Short finger", + "Short digit", + "anterior region of body", + "decreased length of manual digit 1", + "Abnormal nasal tip morphology", + "aplastic anatomical entity", + "Bulbous nose", + "Abnormal external nose morphology", + "entire sense organ system", + "abnormal external nose morphology", + "nose", + "immaterial anatomical entity", + "Abnormality of the nose", + "Aplasia/Hypoplasia of the mandible", + "abnormally decreased number of myeloid cell", + "abnormal nose", + "abnormally increased volume of anatomical entity", + "nose tip", + "anatomical point", + "olfactory organ", + "abnormal erythrocyte morphology", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", + "trunk", + "abnormal bone marrow cell", + "abnormal shape of continuant", "excretory system", - "negative regulation of cellular process", - "cranial skeletal system", - "abnormal digit", - "metacarpal bone", - "material entity", - "Growth abnormality", + "Abnormal cellular physiology", + "3-D shape anatomical entity in independent continuant", + "3-D shape anatomical entity", + "abnormal manual digit morphology in the independent continuant", + "shape anatomical entity in independent continuant", + "manual digit 1 plus metapodial segment", + "abdomen", + "biological regulation", + "abdominal segment of trunk", + "abdominal segment element", + "Abnormality of the kidney", + "Horseshoe kidney", + "developmental process", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "shape kidney", + "abnormal renal system", + "changed developmental process rate", + "abnormal genitourinary system", + "Abnormality of the male genitalia", + "manual digitopodium region", + "Abnormality of blood and blood-forming tissues", + "decreased length of digit", + "upper urinary tract", + "anatomical entity hypoplasia in independent continuant", + "shape anatomical entity", + "concave 3-D shape anatomical entity", "abnormal renal system morphology", - "programmed DNA elimination", - "proximal phalanx of manus", - "forelimb bone", - "Abnormal localization of kidney", - "muscle structure", - "Abnormality of the head", - "Abnormal carpal morphology", - "skeletal element", - "Abnormal upper limb bone morphology", - "limb endochondral element", - "anatomical entity", - "abnormal autopod region morphology", - "Unilateral facial palsy", - "forelimb endochondral element", - "manual digit", - "DNA metabolic process", - "negative regulation of biosynthetic process", - "obsolete heterocycle metabolic process", - "organelle organization", - "abnormal incomplete closing of the ductus arteriosus", - "negative regulation of biological process", - "pectoral appendage skeleton", - "Abnormal cellular phenotype", + "abnormal chromatin organization", + "chromatin organization", + "negative regulation of cellular biosynthetic process", + "pectoral appendage", + "regulation of gene expression", + "cellular component organization", ], }, { - "id": "MONDO:0054748", + "id": "MONDO:0014986", "category": "biolink:Disease", - "name": "Fanconi anemia, complementation group S", - "xref": ["GARD:16264", "OMIM:617883"], + "name": "Fanconi anemia complementation group R", + "xref": ["DOID:0111090", "GARD:16214", "OMIM:617244", "UMLS:C4284093"], "provided_by": "phenio_nodes", + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene.", "synonym": [ - "FANCS", - "Fanconi anemia, complementation GROUP S", - "Fanconi anemia, complementation group S", + "FANCR", + "Fanconi Anemia, complementation group R", + "Fanconi Anemia, complementation group type R", + "Fanconi anaemia caused by mutation in RAD51", + "Fanconi anaemia complementation group type R", + "Fanconi anemia caused by mutation in RAD51", + "Fanconi anemia complementation group type R", + "Fanconi anemia, complementation GROUP R", + "RAD51 Fanconi anaemia", + "RAD51 Fanconi anemia", ], "namespace": "MONDO", "has_phenotype": [ - "HP:0100615", "HP:0001249", - "HP:0040012", + "HP:0009777", + "HP:0000238", + "HP:0006433", + "HP:0002650", + "HP:0002023", "HP:0000252", - "HP:0008070", - "HP:0000280", - "HP:0000430", - "HP:0000750", - "HP:0000316", - "HP:0000581", - "HP:0000527", + "HP:0001510", + "HP:0006349", + "HP:0000125", + "HP:0005528", "HP:0000568", - "HP:0000689", - "HP:0000426", - "HP:0000294", - "HP:0001263", - "HP:0003002", - "HP:0025318", - "HP:0000215", - "HP:0030084", + "HP:0007099", "HP:0001903", - "HP:0001508", - "HP:0001251", - "HP:0004322", - "HP:0000463", - "HP:0000189", - "HP:0000582", - "HP:0001572", - "HP:0000286", - "HP:0009623", + "HP:0003221", + "HP:0031936", + "HP:0002144", + "HP:0003764", ], "has_phenotype_label": [ - "Ovarian neoplasm", "Intellectual disability", - "Chromosome breakage", + "Absent thumb", + "Hydrocephalus", + "Radial dysplasia", + "Scoliosis", + "Anal atresia", "Microcephaly", - "Sparse hair", - "Coarse facial features", - "Underdeveloped nasal alae", - "Delayed speech and language development", - "Hypertelorism", - "Blepharophimosis", - "Long eyelashes", + "Growth delay", + "Agenesis of permanent teeth", + "Pelvic kidney", + "Bone marrow hypocellularity", "Microphthalmia", - "Dental malocclusion", - "Prominent nasal bridge", - "Low anterior hairline", - "Global developmental delay", - "Breast carcinoma", - "Ovarian carcinoma", - "Thick upper lip vermilion", - "Clinodactyly", + "Chiari type I malformation", "Anemia", - "Failure to thrive", - "Ataxia", - "Short stature", - "Anteverted nares", - "Narrow palate", - "Upslanted palpebral fissure", - "Macrodontia", - "Epicanthus", - "Proximal placement of thumb", + "Chromosomal breakage induced by crosslinking agents", + "Delayed ability to walk", + "Tethered cord", + "Nevus", ], - "has_phenotype_count": 30, + "has_phenotype_count": 18, "has_phenotype_closure": [ - "UBERON:0019221", - "UBERON:0001460", - "UBERON:0002389", - "UBERON:5001463", - "UPHENO:0084448", - "HP:0002817", - "UBERON:0006048", - "UPHENO:0002708", - "UPHENO:0084834", - "HP:0009484", - "UPHENO:0002880", - "HP:0004097", - "UBERON:0002102", - "HP:0009623", - "UPHENO:0084841", - "UPHENO:0076724", - "HP:0001155", - "UPHENO:0086633", - "UBERON:0012180", - "UBERON:0000014", - "UBERON:0001712", - "UPHENO:0072402", - "UPHENO:0087058", - "UPHENO:0001034", - "UPHENO:0087300", - "UBERON:0003913", - "HP:0001572", - "UPHENO:0086824", - "HP:0000189", - "UBERON:0001716", - "UPHENO:0002915", - "UBERON:0005726", - "UPHENO:0080351", - "HP:0001510", - "UPHENO:0081424", - "UBERON:0008785", - "UBERON:0004710", - "UPHENO:0069254", - "NBO:0000751", - "NBO:0000317", - "UPHENO:0074360", - "UPHENO:0074367", - "NBO:0000308", - "UBERON:0001457", - "NBO:0000607", - "UBERON:0012141", - "UPHENO:0080275", - "UPHENO:0052915", - "UPHENO:0076760", - "HP:0004323", - "UPHENO:0082794", - "UPHENO:0010763", - "UPHENO:0080377", - "UPHENO:0053208", - "GO:0040007", - "HP:0004325", - "UPHENO:0082761", + "HP:0001574", + "HP:0011121", + "UBERON:0002416", + "UPHENO:0002635", + "UBERON:0005174", + "HP:0002144", + "UBERON:0002240", + "HP:0012758", + "HP:0001270", + "HP:0002194", + "GO:0009890", + "GO:0031324", + "GO:0071824", + "UPHENO:0050021", + "GO:0010629", + "GO:0031049", + "GO:0060255", + "GO:0009889", + "GO:0048523", + "GO:0043933", + "UPHENO:0050116", + "GO:0006996", + "HP:0001939", + "HP:0003221", + "UPHENO:0049990", + "UPHENO:0050121", + "GO:0005623", + "UPHENO:0049748", + "GO:0010468", + "GO:0031327", + "GO:0006325", + "GO:0050794", + "GO:0019222", + "GO:0006139", + "GO:0043170", + "UPHENO:0050845", + "HP:0003220", + "GO:0071704", + "GO:0008152", + "UPHENO:0050113", + "HP:0012130", "UPHENO:0088162", + "CL:0000764", + "CL:0000232", + "CL:0000081", + "UPHENO:0020013", + "HP:0011282", + "UPHENO:0081601", + "UPHENO:0071309", + "HP:0007099", + "UBERON:0004732", + "UPHENO:0072814", + "HP:0001317", + "UBERON:0000063", + "HP:0002438", + "UPHENO:0069523", + "HP:0012372", + "UBERON:0004088", + "HP:0000568", + "UPHENO:0012541", + "UPHENO:0075219", + "HP:0008056", + "HP:0000478", + "HP:0000315", + "UPHENO:0068971", + "UPHENO:0021474", + "UBERON:0034923", + "UPHENO:0002948", + "HP:0025354", + "UPHENO:0087123", + "HP:0012145", + "HP:0001871", + "HP:0005528", + "CL:0000000", + "UPHENO:0087339", + "UPHENO:0087355", + "HP:0020047", + "CL:0002092", + "HP:0002715", + "UBERON:0002371", + "UPHENO:0049367", + "UPHENO:0087858", + "HP:0012210", + "UBERON:0005177", "UPHENO:0085118", - "UPHENO:0004459", - "HP:0001167", + "UBERON:0002113", + "UPHENO:0053580", + "UBERON:0011143", + "GO:0031052", + "UBERON:0000489", + "UBERON:0005173", + "UBERON:0002417", + "UBERON:8450002", + "UBERON:0004122", + "HP:0010935", + "UBERON:0003103", + "UBERON:0000916", + "HP:0100542", + "UBERON:0009569", + "UPHENO:0075902", + "UPHENO:0081755", + "UBERON:0001008", + "CL:0000329", + "HP:0000271", + "HP:0000086", + "UBERON:0003672", + "HP:0011044", + "UBERON:0003913", + "CL:0000763", + "HP:0031816", + "HP:0000164", + "UBERON:0001091", + "GO:0034641", + "UPHENO:0011564", + "UBERON:0004921", + "UPHENO:0003020", + "UBERON:0002553", + "UBERON:0007774", + "GO:0065007", + "UPHENO:0081526", + "HP:0000951", + "UPHENO:0002828", + "UBERON:0000167", + "UPHENO:0076800", + "UPHENO:0002910", + "UBERON:0000466", + "UBERON:0013522", + "UPHENO:0000543", + "UPHENO:0049874", + "HP:0001507", + "UBERON:0001456", + "UPHENO:0000541", + "HP:0001510", + "UPHENO:0002764", + "NCBITaxon:6072", + "UPHENO:0075195", + "UBERON:0007811", + "UBERON:0001137", + "UBERON:0000033", + "GO:0006725", + "UBERON:0001893", + "UBERON:0000970", + "NCBITaxon:33154", + "UBERON:0001890", + "UPHENO:0080200", + "UBERON:0002616", + "UPHENO:0087472", + "UBERON:0010323", + "UPHENO:0076739", + "HP:0007364", + "HP:0000234", + "HP:0000252", + "NCBITaxon:1", + "HP:0002308", + "UPHENO:0081566", + "UPHENO:0087907", + "HP:0000119", + "HP:0000152", + "UPHENO:0075220", + "HP:0000240", "CL:0000988", - "HP:0001903", - "UPHENO:0088170", - "CL:0000764", - "UBERON:0002193", - "UPHENO:0084928", - "UPHENO:0085068", - "HP:0001507", - "HP:0001871", - "CL:0000081", - "HP:0012130", - "UBERON:0005881", - "HP:0040068", + "HP:0002060", + "GO:0050789", + "UBERON:0013701", + "UBERON:0001032", + "UBERON:0000481", + "UBERON:5002389", + "BFO:0000003", + "GO:0010556", + "UBERON:0000165", + "PR:000050567", + "UBERON:0002204", + "UPHENO:0020041", + "UPHENO:0086700", + "UBERON:0002529", + "HP:0003764", + "UBERON:0019221", + "GO:0040007", + "UBERON:0001460", + "UPHENO:0020584", + "UBERON:0013702", "HP:0002813", - "UBERON:0002513", - "HP:0005288", - "UBERON:0004708", - "UBERON:0010740", - "HP:0011844", + "UBERON:0002091", "UPHENO:0084763", - "UBERON:0012139", + "UPHENO:0076779", + "UPHENO:0088185", + "UBERON:0007779", + "UBERON:0010712", + "UBERON:0010538", + "UBERON:0002405", + "UBERON:0011584", + "UBERON:0000026", + "UPHENO:0049587", + "UPHENO:0002844", + "UBERON:0019231", + "UBERON:0004375", + "HP:0009777", + "HP:0001155", + "UBERON:0011137", + "GO:0046483", + "UPHENO:0084766", + "UBERON:0015212", + "UPHENO:0076799", + "UPHENO:0080126", + "HP:0000924", + "UBERON:0011582", + "HP:0009815", + "UBERON:0000075", + "UPHENO:0003811", + "UPHENO:0081598", + "UBERON:0000060", + "HP:0009115", + "UPHENO:0087501", + "UBERON:0003606", + "OBI:0100026", + "UPHENO:0087518", + "UPHENO:0008523", + "UBERON:0002495", + "HP:0100887", + "UBERON:0012140", + "CL:0001035", + "UBERON:0005172", + "HP:0002973", + "UPHENO:0002832", + "UPHENO:0002803", + "UPHENO:0086633", + "UBERON:0000475", + "GO:0071840", + "UPHENO:0026181", + "UBERON:0001440", + "GO:0003008", + "HP:0002921", + "HP:0001877", + "UBERON:0001463", + "UBERON:0000468", + "UBERON:0002199", + "UBERON:0002193", + "UPHENO:0018390", + "UPHENO:0008668", + "HP:0012638", + "UPHENO:0076727", + "HP:0000153", + "UPHENO:0063844", + "HP:0006265", + "UPHENO:0087089", + "HP:0040195", + "UPHENO:0001005", + "UPHENO:0074228", + "GO:0006807", + "UPHENO:0006910", + "UBERON:0007272", "HP:0011297", - "UPHENO:0002905", - "UBERON:0012354", + "UBERON:0011676", + "HP:0011446", + "HP:0000118", + "HP:0045060", + "HP:0002143", + "UBERON:0010230", + "GO:0050877", + "HP:0034915", + "UPHENO:0002708", + "HP:0011017", + "UBERON:0012141", + "UBERON:0002102", + "GO:0044238", + "UPHENO:0088170", + "UPHENO:0001001", + "UBERON:0000464", + "UPHENO:0086589", + "UPHENO:0076791", + "UPHENO:0079876", + "UBERON:0002037", + "HP:0001172", + "HP:0002650", + "UPHENO:0087427", + "UPHENO:0002332", + "UBERON:0005451", + "UBERON:0004111", + "UPHENO:0014240", + "UBERON:0004120", + "HP:0001167", + "HP:0040064", + "UBERON:0010707", + "UPHENO:0002964", "UBERON:0002101", - "UPHENO:0020528", - "UPHENO:0086144", - "UBERON:0002091", - "UBERON:0012140", - "UBERON:0004381", - "UBERON:0002428", - "UBERON:0011582", - "UPHENO:0087928", + "BFO:0000001", + "UBERON:0011249", + "HP:0009380", + "UBERON:0001444", + "HP:0011842", + "UPHENO:0075696", + "UBERON:0002470", + "UBERON:0002390", + "UBERON:0010000", + "UPHENO:0085195", + "UBERON:0012475", + "HP:0011283", + "UPHENO:0075997", + "UPHENO:0020888", + "GO:0008150", + "PATO:0000001", + "UPHENO:0026028", + "UPHENO:0081435", + "UBERON:5006048", + "HP:0010674", + "UPHENO:0002839", + "UBERON:0010314", + "UBERON:0001062", + "UPHENO:0076957", + "UBERON:0011216", + "HP:0009804", + "HP:0005922", + "UBERON:0002097", + "HP:0006349", + "HP:0012759", + "UBERON:0002398", + "BFO:0000015", + "GO:0010605", + "GO:0009892", + "HP:0011844", + "UPHENO:0080079", + "HP:0100543", + "UBERON:0006717", + "UPHENO:0001003", + "UPHENO:0076724", + "UBERON:0000061", + "UPHENO:0086172", + "HP:0000707", + "HP:0000125", + "HP:0002817", + "HP:0009601", + "UPHENO:0084928", + "UBERON:0003607", + "UBERON:0000062", + "UPHENO:0076803", + "UPHENO:0002896", + "UPHENO:0049873", + "HP:0005561", + "UBERON:0000153", "UPHENO:0076740", - "UBERON:0010363", - "UBERON:0001474", - "UPHENO:0087006", - "UBERON:0004120", - "HP:0012471", - "UPHENO:0087554", - "HP:0000215", - "UPHENO:0087551", - "UBERON:0010538", - "HP:0025318", - "UBERON:0009569", - "HP:0000769", - "UBERON:0000310", - "UPHENO:0081605", + "UBERON:0001016", + "UBERON:0001017", + "UBERON:0006314", + "UPHENO:0053588", + "UPHENO:0063722", + "UPHENO:0063599", + "GO:0090304", + "UPHENO:0015280", + "UBERON:0000479", + "UPHENO:0035025", + "UBERON:0001007", + "UPHENO:0049700", + "UPHENO:0011589", + "HP:0005927", + "NCBITaxon:33208", + "UPHENO:0002536", + "UPHENO:0076692", + "UBERON:0000019", + "UBERON:0010708", + "GO:0050890", + "UPHENO:0084761", + "UPHENO:0047419", + "UPHENO:0011498", + "HP:0006496", + "UBERON:0001434", + "UPHENO:0004523", + "UPHENO:0056237", + "UBERON:0010758", + "UPHENO:0026506", + "GO:0032501", + "UPHENO:0004459", + "UBERON:0002428", + "BFO:0000004", + "HP:0000001", + "UBERON:0001442", + "UPHENO:0080209", + "UBERON:0004923", + "UBERON:0012354", + "UBERON:0000020", + "HP:0040072", + "UPHENO:0080099", + "UBERON:0003129", + "UBERON:0015061", + "HP:0001249", + "UPHENO:0002833", + "UPHENO:0076703", + "BFO:0000040", + "UBERON:0002544", + "GO:0006259", + "UPHENO:0076720", "UBERON:0002100", - "UBERON:0000915", - "UBERON:0001443", - "UPHENO:0054261", - "HP:0031093", - "UPHENO:0087481", - "HP:0001263", - "HP:0006482", - "UPHENO:0003098", - "HP:0001965", - "HP:0100037", + "UPHENO:0082875", + "UBERON:0001474", + "UBERON:0005358", + "GO:0044237", + "HP:0002977", + "UBERON:0010363", "UBERON:0006058", - "HP:0000599", - "UPHENO:0075792", - "HP:0009553", - "UPHENO:0086700", - "HP:0011361", - "UBERON:0010758", - "UBERON:0008200", - "UBERON:0008340", - "UPHENO:0085876", + "NCBITaxon:131567", "UPHENO:0076723", - "HP:0000422", - "HP:0000426", - "UPHENO:0087278", - "UPHENO:0082900", - "UPHENO:0087585", - "UPHENO:0081585", - "HP:0000309", - "UBERON:0002553", - "UPHENO:0003035", - "HP:0031816", - "HP:0000174", - "HP:0000164", - "UBERON:0011595", - "UBERON:0001709", - "HP:0040064", - "UBERON:0010313", - "UBERON:0000464", - "HP:0000177", - "UPHENO:0076786", - "UBERON:0000167", - "UBERON:0034926", - "UPHENO:0076803", - "UPHENO:0002826", - "UBERON:0001456", - "UBERON:0004921", - "UPHENO:0084829", - "UBERON:0011158", - "UPHENO:0002635", - "HP:0034434", - "UBERON:0001555", - "HP:0000692", - "CL:0000763", - "HP:0000163", - "HP:0000290", - "UPHENO:0080209", - "HP:0000568", - "UPHENO:0054299", - "UBERON:0000161", - "UBERON:0009680", - "UBERON:0000479", - "UPHENO:0076771", - "UBERON:0001702", - "UPHENO:0031839", - "UBERON:0002416", - "UPHENO:0072394", - "GO:0010605", - "HP:0032039", - "UPHENO:0020888", - "UPHENO:0046505", - "HP:0000765", - "UBERON:0004104", - "UPHENO:0080375", - "HP:0030669", - "HP:0000527", - "UPHENO:0034770", - "UPHENO:0046753", - "HP:0000078", - "GO:0006325", - "UBERON:0006800", - "UBERON:0000165", - "UBERON:0003129", - "HP:0011138", - "UBERON:0001708", - "UBERON:0010708", - "UPHENO:0018390", - "UBERON:0000019", - "UPHENO:0022529", - "UPHENO:0049367", - "HP:0010787", - "UPHENO:0075219", + "HP:0000077", + "UPHENO:0002905", + "UPHENO:0086635", + "HP:0033127", + "UBERON:0002471", + "HP:0040070", + "HP:0100547", + "UPHENO:0002880", + "GO:1901360", "BFO:0000141", - "GO:0048523", - "HP:0000316", - "HP:0200006", - "UBERON:0001819", - "HP:0000315", - "UPHENO:0081423", - "UBERON:0010712", - "UPHENO:0003020", - "UPHENO:0018424", - "UPHENO:0075997", - "UPHENO:0080585", + "UPHENO:0002830", + "HP:0001903", + "UBERON:0005944", + "UBERON:0034925", + "UBERON:0004708", + "UPHENO:0086932", + "UBERON:5002544", + "UBERON:0000465", + "UBERON:0001130", + "UBERON:0005881", + "HP:0003330", + "HP:0040012", + "UPHENO:0071344", "UBERON:0000467", - "UBERON:0003277", - "HP:0000119", - "NBO:0000313", - "HP:0000708", - "GO:0034641", - "HP:0012758", - "UBERON:0015212", - "UBERON:0004375", - "HP:0005105", - "UBERON:0000991", - "UBERON:0002090", - "GO:0048519", - "UBERON:0034929", - "HP:0011017", - "UBERON:0010230", - "HP:0012745", - "UBERON:0013703", - "UPHENO:0081786", - "HP:0045025", - "UPHENO:0049586", - "HP:0002463", - "HP:0002167", - "UBERON:0002418", - "UBERON:0000015", - "UPHENO:0055730", - "UPHENO:0076799", - "UBERON:0000020", - "UBERON:0004456", - "UBERON:0001711", - "HP:0011442", - "UBERON:0007827", - "UPHENO:0087113", - "UBERON:0001823", - "UPHENO:0012541", - "UBERON:0002268", - "HP:0000429", - "UPHENO:0087950", - "UBERON:0010707", - "UPHENO:0002833", - "UPHENO:0075198", - "UBERON:0001032", - "UPHENO:0079876", - "UBERON:0002390", - "UBERON:0034923", - "UPHENO:0087974", - "UPHENO:0065599", - "UBERON:0002384", - "UPHENO:0088168", - "UPHENO:0002907", - "UPHENO:0005431", - "UBERON:0001833", - "HP:0000499", - "GO:0031324", - "UPHENO:0002712", - "HP:0009924", - "UBERON:0005928", - "UPHENO:0081338", - "NBO:0000327", - "UBERON:0011156", - "UPHENO:0076800", - "HP:0003549", - "UBERON:0004755", - "HP:0030027", - "HP:0002763", - "UPHENO:0003085", - "HP:0100886", - "HP:0010938", - "UBERON:0001444", - "UPHENO:0020809", - "UPHENO:0004708", - "HP:0001999", - "UPHENO:0081790", - "PR:000050567", - "HP:0001595", - "UPHENO:0086475", - "UBERON:0001037", - "UPHENO:0019384", - "HP:0009603", - "UBERON:0000483", - "HP:0000951", - "UBERON:0001463", - "UBERON:0035639", - "UBERON:0001834", - "UBERON:0010371", - "HP:0011121", - "HP:0012638", - "UBERON:0004175", - "HP:0008070", - "UBERON:0000021", - "UBERON:0000970", - "HP:0000366", - "UPHENO:0006910", - "HP:0001251", - "HP:0011339", - "UBERON:0000004", - "UBERON:0003975", - "HP:0008056", - "HP:0011362", - "UBERON:0001091", - "UPHENO:0011535", - "UPHENO:0080369", - "GO:0043933", - "UBERON:0034768", - "UPHENO:0076739", - "HP:0002011", - "HP:0009121", - "UPHENO:0002910", - "UPHENO:0005170", - "UBERON:3000961", - "NCBITaxon:33208", - "UBERON:0010314", - "GO:0006259", - "OBI:0100026", - "GO:0010556", - "UBERON:0010222", - "UPHENO:0086589", - "UBERON:0013701", - "GO:0050896", - "UBERON:0000475", - "UPHENO:0003811", - "UPHENO:0076702", - "UPHENO:0082903", - "UBERON:0007376", - "UBERON:0002544", - "UPHENO:0050021", - "UPHENO:0002964", - "GO:0071704", - "UPHENO:0000541", - "UPHENO:0003055", - "UPHENO:0075220", - "UBERON:0000468", - "UPHENO:0052178", + "UPHENO:0081466", + "UBERON:0004765", + "UPHENO:0085144", + "UBERON:0004288", + "GO:0010558", + "UBERON:0008785", + "UBERON:0012139", + "UPHENO:0084448", + "UBERON:0004710", + "UPHENO:0085068", + "UPHENO:0009382", + "HP:0000238", + "UBERON:5001463", + "HP:0000163", + "UPHENO:0002433", + "UBERON:0003947", "NCBITaxon:2759", - "HP:0100615", - "UPHENO:0086143", - "HP:0000234", - "UPHENO:0075677", - "UBERON:0005451", - "GO:0032501", - "UPHENO:0087907", - "UBERON:1000021", - "HP:0200007", - "UPHENO:0002830", - "HP:0007364", - "UBERON:0002097", - "UBERON:0001890", - "HP:0000152", - "HP:0012372", - "UBERON:0013766", - "GO:0031052", - "UBERON:0013702", - "UBERON:0002204", - "UPHENO:0002764", - "HP:0001877", - "UPHENO:0011498", - "UBERON:0010912", - "GO:0090304", - "UBERON:0000474", - "HP:0010720", - "HP:0010785", - "HP:0001172", - "HP:0000240", - "UPHENO:0075195", - "HP:0000581", - "UPHENO:0079826", - "HP:0000252", - "UPHENO:0021791", + "UBERON:0002389", + "UBERON:0001895", + "UPHENO:0002826", + "UBERON:0010740", + "UBERON:0004121", + "UBERON:0015203", + "UPHENO:0002642", + "UPHENO:0080325", + "HP:0011355", + "UBERON:0001359", + "UPHENO:0087006", + "UPHENO:0088047", + "UBERON:0000064", + "UPHENO:0056212", + "UPHENO:0078606", + "HP:0002664", + "UBERON:0004733", + "UPHENO:0056333", + "HP:0012443", + "UPHENO:0035147", + "UBERON:0005282", + "HP:0000929", + "UBERON:0000073", "RO:0002577", - "UBERON:0004121", "UBERON:0000955", - "UBERON:0009678", - "UPHENO:0087089", - "UPHENO:0082938", - "UBERON:0004288", - "UPHENO:0076761", - "UPHENO:0076766", - "UBERON:0000003", - "UBERON:0001003", - "HP:0000924", - "HP:0012443", - "HP:0012639", - "UBERON:0005725", - "UBERON:0005944", - "UBERON:0011932", - "UPHENO:0087307", - "UBERON:0011249", - "UPHENO:0003013", + "UBERON:0005281", + "GO:0016043", + "HP:0002011", + "UBERON:0000047", + "HP:0025461", + "UPHENO:0076805", "GO:0031323", - "HP:0003002", - "GO:0065007", + "HP:0000079", + "UBERON:0002513", "UBERON:0011138", - "NBO:0000339", - "UBERON:0034925", - "UPHENO:0000543", - "UPHENO:0050116", - "UBERON:0010323", - "HP:0000286", - "NCBITaxon:131567", - "NCBITaxon:1", - "NCBITaxon:33154", - "UPHENO:0069523", - "UBERON:0000466", - "UBERON:0000033", - "UBERON:5002389", - "HP:0002977", - "HP:0040195", - "HP:0033127", - "GO:0010558", - "UPHENO:0076727", - "UPHENO:0002332", - "UBERON:0004529", - "HP:0005922", - "UBERON:0001016", - "GO:0031327", - "HP:0000492", - "UPHENO:0076703", - "GO:0019222", - "UPHENO:0010795", - "UPHENO:0076805", - "UPHENO:0087518", - "UBERON:0016446", - "UPHENO:0001001", - "HP:0000689", - "UPHENO:0050113", - "HP:0011443", - "GO:0006139", - "UPHENO:0002598", - "UPHENO:0002433", - "GO:0043170", - "GO:0046483", - "UPHENO:0002536", - "UBERON:0001434", - "UBERON:0000481", - "HP:0025031", - "GO:0009890", - "GO:0016043", - "HP:0040012", - "UPHENO:0088133", - "HP:0025354", - "HP:0020047", - "UPHENO:0086172", - "UPHENO:0050845", - "HP:0000430", - "UBERON:0002470", - "UPHENO:0049587", - "UPHENO:0049990", - "UPHENO:0049873", - "UBERON:0000025", - "UPHENO:0088186", - "UBERON:0003566", - "UPHENO:0001072", - "UPHENO:0081566", - "HP:0008050", - "UPHENO:0005433", + "UPHENO:0026183", + "HP:0040068", + "UPHENO:0056072", + "UBERON:0002028", "BFO:0000002", - "GO:0008152", - "HP:0000294", - "HP:0002060", - "HP:0000812", + "HP:0012639", + "UPHENO:0047299", + "UBERON:0004086", + "UPHENO:0076702", + "HP:0031938", + "UBERON:0000463", + "UBERON:0000161", + "HP:0025031", + "UBERON:0002104", + "HP:0002118", + "UPHENO:0081451", + "UPHENO:0087349", + "UBERON:0002386", + "UBERON:0015021", "GO:0009987", - "UPHENO:0019853", - "UPHENO:0087435", - "UPHENO:0049748", - "UBERON:0007844", - "UPHENO:0002768", - "UBERON:0000047", - "HP:0000929", - "HP:0000137", - "UPHENO:0068971", - "BFO:0000015", - "HP:0000582", - "UPHENO:0080079", - "GO:0044237", - "HP:0001574", - "UPHENO:0002896", - "UPHENO:0078606", - "UBERON:0006906", - "UPHENO:0081435", - "GO:0031326", - "BFO:0000003", - "UBERON:0002616", - "UPHENO:0002642", - "GO:0071824", - "GO:0009892", - "UPHENO:0020584", - "HP:0004322", - "GO:0010629", - "UBERON:0003672", - "GO:0006807", - "GO:0044238", - "HP:0000159", - "HP:0100013", - "UBERON:0004111", - "UBERON:0004089", - "UPHENO:0020950", - "UBERON:0000062", + "UBERON:0010703", + "UPHENO:0086956", + "UPHENO:0079872", + "UPHENO:0002751", "BFO:0000020", - "UPHENO:0087472", - "HP:0000002", - "HP:0011842", - "GO:0060255", - "UPHENO:0072261", - "GO:0050877", - "UBERON:0002398", - "HP:0030084", - "HP:0000280", - "UBERON:0001893", - "UPHENO:0076791", - "UBERON:0015061", - "GO:0008150", - "GO:0031049", - "UBERON:5002544", - "UBERON:0002199", - "GO:0007610", - "HP:0000750", - "HP:0011446", - "UPHENO:0021474", - "HP:0100543", - "GO:0003008", - "UPHENO:0086842", - "UBERON:0000465", - "GO:0010468", - "HP:0001249", - "GO:0009889", - "HP:0025461", - "UPHENO:0004523", - "GO:0005623", - "HP:0002664", - "UPHENO:0080200", - "HP:0001508", - "UPHENO:0049622", - "UPHENO:0015280", - "UPHENO:0082875", - "UPHENO:0002931", - "UBERON:0005156", - "UBERON:0007375", - "CL:0000000", - "UPHENO:0081091", - "UPHENO:0087806", - "UPHENO:0072195", - "UPHENO:0087547", - "HP:0000271", - "NCBITaxon:6072", - "CL:0000232", - "UPHENO:0075878", - "GO:0050890", - "HP:0007379", - "UBERON:0001007", - "UPHENO:0086635", - "HP:0010460", - "UBERON:0000990", - "UBERON:0001017", - "UBERON:0000073", - "HP:0000008", - "UBERON:0001084", - "HP:0000463", - "UBERON:0002104", - "BFO:0000004", - "GO:0071840", - "HP:0012243", - "UPHENO:0080352", - "UPHENO:0002828", - "UBERON:0000992", - "HP:0011793", - "UBERON:0010000", - "UBERON:0003100", - "UBERON:0001062", - "UBERON:0007811", - "UBERON:0004765", - "GO:0006725", - "UBERON:0000061", - "UBERON:0004088", - "UPHENO:0054610", - "UPHENO:0001002", - "UPHENO:0050121", - "GO:0050789", - "UPHENO:0075696", - "UBERON:0011216", - "UPHENO:0021517", - "UPHENO:0002844", - "UPHENO:0084766", - "UBERON:0011676", - "HP:0000153", - "GO:0050794", - "UBERON:0004122", - "UBERON:0006003", - "BFO:0000001", - "UPHENO:0087924", - "UPHENO:0001003", - "HP:0000118", - "UPHENO:0087566", - "UBERON:0034944", - "UPHENO:0075159", - "UPHENO:0072194", - "HP:0000001", - "UBERON:0011137", - "UBERON:0000064", - "UPHENO:0084761", - "UBERON:0000153", - "UBERON:0000403", - "GO:0006996", - "HP:0012759", - "UBERON:0015203", - "GO:1901360", - "UPHENO:0020955", - "UBERON:0000063", - "UPHENO:0049700", - "UBERON:0006333", + "UBERON:0001555", + "UBERON:0006048", + "UPHENO:0087510", + "UPHENO:0080114", + "UBERON:0015001", + "UBERON:0004381", + "UBERON:0008962", + "HP:0004378", + "HP:0031936", + "GO:0048519", + "HP:0011314", + "UPHENO:0086644", + "UBERON:0004456", + "UBERON:0001423", + "UPHENO:0087924", + "UPHENO:0001002", + "UBERON:0003460", + "UBERON:0010741", + "UBERON:0003466", + "UPHENO:0076718", + "HP:0000925", + "GO:0031326", + "UBERON:0002090", + "UPHENO:0002813", + "HP:0006433", + "UBERON:0000025", + "UPHENO:0022529", + "HP:0009121", + "HP:0011793", + "UPHENO:0076786", + "HP:0002818", + "HP:0002023", "HP:0025033", - "HP:0000707", - "HP:0000478", - "UBERON:0034921", - "UPHENO:0076692", - "UBERON:0000075", - "UBERON:0003133", - "UBERON:0002529", - "HP:0100887", - "UPHENO:0049874", - "PATO:0000001", - "UBERON:0003102", - "UBERON:0000026", - "HP:0003220", - "CL:0000329", - "UBERON:0013522", - "UBERON:0019231", - "UBERON:0003134", - "HP:0100547", - "UBERON:5006048", - "UPHENO:0054577", - "HP:0001939", - "UPHENO:0001005", - "UPHENO:0054567", - "BFO:0000040", + "UBERON:0001245", + "HP:0006483", + "UBERON:0010912", + "UPHENO:0063565", ], "has_phenotype_closure_label": [ - "abnormal anatomical entity morphology in the manus", - "Proximal placement of thumb", - "pectoral appendage", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormal manus", - "multi-limb segment region", - "manual digit plus metapodial segment", - "abnormal arm", - "abnormal manual digit morphology in the manus", - "Abnormality of the upper limb", - "manual digitopodium region", - "manus", - "pectoral complex", - "upper limb segment", - "Abnormal hand morphology", - "Deviation of the hand or of fingers of the hand", - "abnormal manus morphology", - "arm", - "manual digit", - "skin of head", - "zone of skin", - "abnormal zone of skin morphology", - "tooth-like structure", - "Macrodontia", - "calcareous tooth", - "abnormal calcareous tooth morphology", - "Slanting of the palpebral fissure", - "roof of mouth", - "abnormal roof of mouth morphology", - "Narrow palate", - "abnormal secondary palate morphology", - "decreased width of the secondary palate", - "Abnormal nostril morphology", - "chemosensory system", - "olfactory system", - "external naris", - "abnormal size of multicellular organism", - "decreased height of the anatomical entity", - "decreased size of the multicellular organism", - "abnormality of anatomical entity height", - "delayed growth", - "Abnormality of body height", - "decreased height of the multicellular organism", - "delayed biological_process", - "decreased qualitatively response to stimulus", - "motor coordination", - "abnormally decreased rate of motor coordination", - "cognitive behavior", - "vestibular behavior", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "abnormally decreased rate of behavior process", - "somatic sensation related behavior", - "Abnormality of coordination", - "epicanthal fold", - "Abnormal central motor function", - "decreased motor coordination", - "sensation behavior", - "decreased multicellular organism mass", - "growth", - "abnormal growth", - "Failure to thrive", - "abnormality of multicellular organism mass", - "Decreased body weight", - "decreased qualitatively biological_process", - "Decreased multicellular organism mass", - "decreased anatomical entity mass", - "abnormal hematopoietic system", - "Abnormal myeloid cell morphology", - "myeloid cell", - "Abnormal erythroid lineage cell morphology", - "oxygen accumulating cell", + "Abnormality of the skin", + "abnormal skin of body morphology", + "skin of body", + "integument", + "integumental system", + "Nevus", + "Abnormal spinal cord morphology", + "spinal cord", + "Abnormal conus terminalis morphology", + "dorsum", + "abnormal primary metabolic process", + "negative regulation of biosynthetic process", + "abnormal organelle organization", + "programmed DNA elimination", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "nucleic acid metabolic process", + "protein-containing complex organization", + "regulation of biological process", + "primary metabolic process", + "obsolete nitrogen compound metabolic process", + "cellular component organization or biogenesis", + "abnormal cellular component organization", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "Chromosomal breakage induced by crosslinking agents", + "metabolic process", + "abnormal cellular process", + "regulation of cellular process", + "negative regulation of biological process", + "organelle organization", + "obsolete cellular nitrogen compound metabolic process", + "regulation of gene expression", + "negative regulation of cellular biosynthetic process", + "chromatin organization", + "Chromosome breakage", + "abnormal chromatin organization", "abnormal erythroid lineage cell morphology", + "Abnormal erythrocyte morphology", + "abnormal hematopoietic cell morphology", + "abnormal spinal cord morphology", + "Abnormal erythroid lineage cell morphology", "abnormal myeloid cell morphology", - "Abnormal cell morphology", + "oxygen accumulating cell", + "hematopoietic cell", + "abnormally formed anatomical entity", + "segmental subdivision of nervous system", + "hindbrain", + "Abnormal metencephalon morphology", + "Cerebellar malformation", + "Motor delay", + "regulation of macromolecule biosynthetic process", + "abnormal size of eyeball of camera-type eye", + "abnormal face morphology", + "cellular metabolic process", + "simple eye", + "abnormal integument", + "eyeball of camera-type eye", + "decreased size of the anatomical entity in the independent continuant", + "orbital region", + "Abnormality of the orbital region", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", + "decreased size of the eyeball of camera-type eye", + "Anemia", + "camera-type eye", + "abnormal bone marrow cell", "Abnormality of blood and blood-forming tissues", - "abnormal erythrocyte morphology", - "subdivision of organism along appendicular axis", - "bone of free limb or fin", - "limb endochondral element", - "Abnormality of limbs", - "Abnormal appendicular skeleton morphology", - "digitopodium region", - "skeleton of limb", - "secondary palate", - "abnormal cell morphology", - "limb bone", - "digit plus metapodial segment", - "appendage", - "erythrocyte", - "abnormal limb bone morphology", - "abnormal limb bone", - "abnormal anatomical entity morphology in the appendage girdle complex", - "limb skeleton subdivision", - "abnormal appendicular skeleton morphology", - "autopod region", - "mesoderm-derived structure", - "abnormal digit", - "endochondral bone", - "Short stature", - "Abnormality of limb bone", - "deviation of anatomical entity towards the middle", - "Abnormal palate morphology", - "Abnormality of limb bone morphology", - "Thick vermilion border", - "zone of organ", - "upper lip", - "Thick upper lip vermilion", - "digit 1 plus metapodial segment", - "trunk", - "thoracic segment of trunk", - "subdivision of trunk", - "abnormal chest morphology", - "Abnormal thorax morphology", + "abnormal cell", + "immune system", + "disconnected anatomical group", + "abnormal immune system", + "non-connected functional system", + "Abnormal cellular phenotype", + "Abnormality of the integument", + "abnormal skin of body", + "Abnormality of bone marrow cell morphology", "hemolymphoid system", - "Neoplasm of the breast", - "abnormal chest", - "Abnormal breast morphology", - "abnormal manual digit morphology in the independent continuant", - "Breast carcinoma", - "Abnormality of the breast", - "abnormal breast morphology", - "Global developmental delay", - "hairline", - "scalp", - "forehead", - "hair of head", - "abnormal scalp", - "manual digit 1", - "Abnormality of the forehead", - "abnormal forehead", - "Anemia", - "Congenital abnormal hair pattern", - "abnormally protruding anatomical entity", - "prominent anatomical entity", - "snout", - "abnormal midface morphology", - "abnormal nasal bridge morphology", - "abnormal snout morphology", - "nasal bridge", - "Deviation of finger", - "Abnormal midface morphology", - "tooth row", - "subdivision of tube", - "Abnormality of the frontal hairline", - "anatomical row", + "Abnormality of the immune system", + "abnormal hematopoietic system", + "abnormal renal system morphology", + "abnormal anatomical entity topology in independent continuant", + "abnormal genitourinary system", + "abnormally localised anatomical entity", + "Ectopic kidney", + "abnormal renal system", + "negative regulation of cellular metabolic process", + "abnormal bone marrow cell morphology", + "abdomen element", + "abnormal eyeball of camera-type eye", + "Abnormality of the kidney", + "abnormally localised anatomical entity in independent continuant", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "abdominal segment element", + "abdominal segment of trunk", + "abdomen", + "Abnormality of the upper urinary tract", + "abnormal bone marrow morphology", + "abnormal location of anatomical entity", + "abnormal erythrocyte morphology", + "Abnormal number of permanent teeth", + "abnormally localised kidney", + "abnormally decreased number of anatomical entity in the multicellular organism", + "Abnormality of the face", + "Agenesis of permanent teeth", + "abnormally decreased number of anatomical entity", + "anatomical cavity", + "abnormally decreased number of calcareous tooth", + "cellular component organization", + "abnormal number of anatomical enitites of type calcareous tooth", + "secondary dentition", + "abnormal mouth morphology", + "calcareous tooth", "dentition", - "midface", - "digestive system", - "primary subdivision of skull", - "jaw skeleton", - "decreased length of anatomical entity in independent continuant", - "abnormal mouth", - "Dental malocclusion", - "perception behavior by means", - "autopodial extension", + "subdivision of tube", "Abnormal oral morphology", - "set of upper jaw teeth", + "Abnormality of multiple cell lineages in the bone marrow", "Abnormality of the dentition", - "anatomical conduit", - "Abnormality of globe size", + "Abnormal number of teeth", + "myeloid cell", + "aplastic secondary dentition", + "abnormally decreased number of anatomical entity in the independent continuant", + "growth", "subdivision of digestive tract", - "abnormal digestive system", - "Long eyelashes", - "abnormal face", - "abnormal size of eyeball of camera-type eye", - "lip", - "Microphthalmia", - "Abnormality of metabolism/homeostasis", - "decreased width of the anatomical entity in independent continuant", - "abnormal mouth morphology", - "abnormal eyelash morphology", - "Abnormality of the palpebral fissures", - "abnormal size of palpebral fissure", - "head or neck skin", - "abnormal ocular adnexa", - "Neoplasm by anatomical site", - "Abnormality of the ocular adnexa", - "deviation of manual digit 1", - "decreased length of palpebral fissure", - "anatomical line between pupils", - "ocular adnexa", - "Abnormality of dental morphology", - "Abnormal internal genitalia", - "decreased width of the palpebral fissure", - "bone of appendage girdle complex", - "Narrow palpebral fissure", - "ecto-epithelium", - "Blepharophimosis", - "visual system", - "obsolete cellular aromatic compound metabolic process", - "immaterial entity", - "eye", - "orbital region", - "skeleton of upper jaw", - "Abnormality of globe location", - "biological_process", - "subdivision of skeleton", - "protein-containing material entity", - "increased size of the anatomical entity in independent continuant", - "Abnormality of head or neck", - "Abnormal eye morphology", - "anatomical line", - "abnormal eyeball of camera-type eye", - "abnormal face morphology", - "abnormal nasal cartilage morphology", - "upper jaw region", - "nasal cartilage", - "increased length of the anatomical entity", - "eyeball of camera-type eye", - "increased anatomical entity length in independent continuant", - "simple eye", - "blood cell", - "erythroid lineage cell", - "behavior", - "Abnormality of speech or vocalization", - "central nervous system", - "Language impairment", - "Abnormal skeletal morphology", - "external soft tissue zone", - "decreased biological_process", - "abnormal connective tissue", - "anatomical entity hypoplasia", + "delayed biological_process", + "Growth delay", + "abnormal biological_process", + "programmed DNA elimination by chromosome breakage", + "abnormal orbital region", + "Abnormal localization of kidney", + "face", + "Growth abnormality", + "delayed growth", + "abnormal size of anatomical entity", + "Decreased head circumference", + "cranial skeletal system", + "Abnormality of the genitourinary system", + "forebrain", + "abnormal forebrain morphology", + "Eukaryota", + "Eumetazoa", + "abnormal skull morphology", "Abnormality of the mouth", - "nasal cartilage hypoplasia", - "Abnormality of connective tissue", - "cartilage element", - "Neurodevelopmental delay", - "decreased size of the anatomical entity in the independent continuant", - "Abnormal morphology of the nasal alae", - "tube", - "abnormal digestive system morphology", - "decreased length of anatomical entity", - "abnormal nose morphology", - "jaw region", - "neural crest-derived structure", - "Abnormal cellular phenotype", - "Abnormality of the orbital region", - "entire sense organ system", - "abnormal hairline", - "abnormal cellular process", - "olfactory organ", - "Abnormal cartilage morphology", - "abnormal nose", - "abnormal dentition", - "camera-type eye", - "Underdeveloped nasal alae", + "abnormal size of skull", + "abnormal telencephalon morphology", + "dorsal region element", + "Abnormality of skull size", + "Abnormal oral cavity morphology", + "abnormal head morphology", + "tooth-like structure", + "Abnormality of head or neck", + "body proper", + "regional part of brain", + "aplasia or hypoplasia of telencephalon", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal craniocervical region morphology", + "kidney", + "regional part of nervous system", + "visual system", + "abnormal anatomical entity morphology in the brain", + "Abnormal skull morphology", + "abnormal kidney morphology", + "main body axis", + "subdivision of organism along main body axis", + "multi-tissue structure", + "Abnormality of the musculoskeletal system", + "cellular organisms", + "abnormal digit", + "bodily fluid", + "aplasia or hypoplasia of anatomical entity", + "Aplasia/hypoplasia involving the skeleton", "anatomical entity", - "ala of nose", - "manual digit 1 plus metapodial segment", - "telencephalon", - "Abnormal nasal cartilage morphology", - "abnormal external nose morphology", - "abnormal anatomical entity length", - "Abnormal nasal morphology", - "skeletal tissue", - "connective tissue", + "Aplasia/hypoplasia involving bones of the upper limbs", + "bone marrow cell", + "system", + "aplasia or hypoplasia of manual digit 1", + "Abnormality of limbs", + "regulation of cellular metabolic process", + "regulation of metabolic process", + "Abnormality of limb bone morphology", + "abnormal brain ventricle/choroid plexus morphology", "brain", - "head connective tissue", - "limb", - "lateral structure", - "anatomical entity hypoplasia in independent continuant", - "Abnormality of the nose", - "abnormal eyelid morphology", - "Abnormal nasal bridge morphology", - "increased size of the anatomical entity", - "abnormal breast", - "abnormal skin of body", - "palpebral fissure", - "abnormal ala of nose morphology", - "Abnormality of skin adnexa morphology", - "subdivision of head", + "abnormal anatomical entity morphology in the independent continuant", + "limb segment", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal mouth", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "limb endochondral element", + "genitourinary system", + "forelimb skeleton", + "abnormal number of anatomical enitites of type anatomical entity", + "limb bone", + "Abnormal finger morphology", + "abnormally formed cerebellum", + "absent anatomical entity in the limb", + "Abnormality of the skeletal system", + "abnormal metencephalon morphology", + "Abnormal forearm bone morphology", "abnormal digit morphology", - "cellular component organization or biogenesis", - "Phenotypic abnormality", - "Abnormality of the face", - "pilosebaceous unit", - "Abnormal eyelash morphology", - "Growth abnormality", - "Abnormal communication", - "non-connected functional system", - "abnormal biological_process", - "Abnormal cellular physiology", - "multi-tissue structure", - "skin of body", - "integumental system", - "epithelium", - "response to stimulus", - "abnormal limb", - "abnormal spatial pattern of anatomical entity", - "Abnormal cerebral morphology", + "Abnormal forebrain morphology", + "abnormal appendicular skeleton morphology", + "multi-limb segment region", + "endochondral element", + "digit", + "abnormal arm", + "absent anatomical entity in the forelimb", + "Tethered cord", + "excretory system", + "Abnormal curvature of the vertebral column", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "Abnormal cerebellum morphology", + "digit 1 plus metapodial segment", + "head", + "Abnormality of limb bone", + "Neurodevelopmental delay", + "pectoral appendage", + "absent anatomical entity", + "brain ventricle", + "aplastic manual digit 1", + "abnormal growth", + "independent continuant", + "organic cyclic compound metabolic process", + "segment of autopod", + "postcranial axial skeletal system", + "paired limb/fin skeleton", + "Abnormal cerebrospinal fluid morphology", + "Abnormal thumb morphology", + "phenotype by ontology source", + "skeletal system", + "root", + "appendage", + "tube", + "abnormal manual digit 1 morphology", "organ subunit", - "paired limb/fin segment", - "Abnormality of the integument", - "Aplasia/Hypoplasia affecting the eye", + "Cognitive impairment", "anatomical space", - "oral cavity", - "system", - "Abnormal forebrain morphology", - "abnormal spatial pattern of strand of hair", - "Sparse hair", - "abnormality of anatomical entity physiology", - "cutaneous appendage", - "integument", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormal lip morphology", - "chest", + "paired limb/fin", + "digestive system", + "upper limb segment", + "appendicular skeleton", + "abnormal anatomical entity morphology in the manus", + "manual digitopodium region", + "abnormal forelimb morphology", + "Aplasia/Hypoplasia affecting the eye", + "abnormal hematopoietic system morphology", + "abnormal dentition", + "Abnormal nervous system physiology", + "subdivision of trunk", + "absent manual digit", + "abnormal phenotype by ontology source", + "cerebrospinal fluid", + "Abnormal cell morphology", + "phenotype", + "nucleobase-containing compound metabolic process", + "abnormal hindbrain morphology", + "absent digit", + "Abnormality of the eye", + "abnormal upper urinary tract", + "mouth", + "musculoskeletal system", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "Abnormal eye morphology", + "manual digit", + "Abnormal morphology of the radius", + "Neurodevelopmental abnormality", + "subdivision of organism along appendicular axis", + "Abnormality of mental function", + "organic substance metabolic process", + "Abnormal cellular physiology", + "Pelvic kidney", + "abnormality of nervous system physiology", + "skeleton of manus", + "lateral structure", "digestive tract", - "skin epidermis", - "abnormal integument", - "axial skeletal system", - "outer epithelium", - "Growth delay", - "abnormal location of eyeball of camera-type eye", - "abnormal skin epidermis morphology", + "process", "hematopoietic system", - "abnormal forebrain morphology", - "abnormal pilosebaceous unit morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "axial skeleton plus cranial skeleton", - "Abnormal hair quantity", - "abnormal response to stimulus", - "abnormal cartilage element morphology", - "anatomical entity hypoplasia in face", - "abnormal skin of body morphology", - "abnormal strand of hair", - "naris", - "female reproductive system", - "integumentary projection", - "Abnormality of the musculoskeletal system", - "abnormal size of skull", - "abnormal number of anatomical enitites of type strand of hair", - "anatomical projection", - "surface structure", - "Abnormal upper lip morphology", - "nervous system process", - "body proper", - "Deviation of the thumb", + "multicellular organism", + "absent anatomical entity in the multicellular organism", + "agenesis of anatomical entity", + "abnormal face", + "autopodial extension", + "Bone marrow hypocellularity", "skeletal element", - "Abnormality of mental function", - "Abnormality of the head", - "Aplasia/Hypoplasia of the cerebrum", - "endochondral element", - "Abnormality of the scalp hair", - "immaterial anatomical entity", - "programmed DNA elimination by chromosome breakage", - "organism subdivision", + "zeugopod", + "negative regulation of gene expression", + "Phenotypic abnormality", + "Abnormality of the hand", + "Abnormal appendicular skeleton morphology", + "Delayed ability to walk", + "material entity", + "abnormal cerebellum morphology", "skeleton", - "aplasia or hypoplasia of eyeball of camera-type eye", + "nervous system process", + "abnormal number of anatomical enitites of type secondary dentition", + "system process", + "anatomical collection", + "All", + "Abnormal cerebral ventricle morphology", + "Abnormal upper limb bone morphology", + "Abnormal hindbrain morphology", + "renal system", + "nervous system", + "abnormal limb bone morphology", + "cellular process", "Abnormal digit morphology", - "Abnormality of skull size", - "abnormal female reproductive system morphology", - "genitourinary system", - "Abnormal nervous system morphology", - "protein-containing complex organization", - "abnormal genitourinary system", - "abnormal axial skeleton plus cranial skeleton morphology", - "organ", - "protein-DNA complex organization", - "Abnormality of body weight", - "abnormal telencephalon morphology", - "obsolete cellular nitrogen compound metabolic process", - "Abnormality of the hand", - "subdivision of organism along main body axis", - "Delayed speech and language development", - "skull", - "facial skeleton", + "decreased size of the anatomical entity", + "cognition", + "ventricular system of brain", + "anatomical structure", + "abnormal manus", + "abnormally increased number of brain ventricle in the independent continuant", "organism", - "face", - "Microcephaly", - "abnormal craniocervical region", - "appendicular skeletal system", - "abnormal cellular component organization", - "cranial skeletal system", - "skin of eyelid", - "abnormality of nervous system physiology", - "anterior region of body", - "abnormal palpebral fissure", - "Abnormal reproductive system morphology", - "Morphological central nervous system abnormality", - "cartilage tissue", - "Eukaryota", - "forebrain", - "DNA metabolic process", - "morphological feature", - "obsolete cell", - "Epicanthus", - "deviation of anatomical entity", - "Ovarian carcinoma", - "occurrent", + "autopod region", + "biological_process", + "Finger aplasia", + "entire sense organ system", + "continuant", + "manual digit 1 plus metapodial segment", + "obsolete cellular aromatic compound metabolic process", + "multicellular organismal process", "abnormal skeletal system morphology", - "anatomical collection", - "abnormal skull morphology", - "Anteverted nares", - "regional part of brain", - "digit 1", - "abnormal head", - "regional part of nervous system", - "anatomical cavity", - "appendicular skeleton", - "prominent upper lip", - "Abnormal axial skeleton morphology", - "abnormal size of anatomical entity", - "abnormal behavior process", - "abnormal external naris", - "Tooth malposition", - "integumentary adnexa", - "abnormal organelle organization", - "abnormal head morphology", - "head", - "process", - "organ system subdivision", - "Neurodevelopmental abnormality", - "Abnormal skull morphology", - "chromatin organization", - "sensory system", + "protein-containing material entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "organ part", + "forelimb endochondral element", + "multicellular anatomical structure", + "Scoliosis", + "forelimb zeugopod", + "abnormal nervous system", + "manual digit 1 or 5", "Neoplasm", - "system process", - "skeletal system", - "abnormal autopod region morphology", - "increased length of the eyelash", - "ectoderm-derived structure", - "abnormal ovary", - "multi organ part structure", - "structure with developmental contribution from neural crest", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", + "upper urinary tract", + "Anal atresia", + "digit plus metapodial segment", + "skeleton of limb", + "material anatomical entity", + "segmental subdivision of hindbrain", + "brain ventricle/choroid plexus", + "anatomical system", + "quality", + "abnormal manus morphology", + "pectoral appendage skeleton", + "manual digit plus metapodial segment", + "abnormal limb long bone morphology", + "radius endochondral element", + "regulation of cellular biosynthetic process", "biological regulation", - "main body axis", - "cellular organisms", - "abnormal forelimb morphology", - "Genital neoplasm", - "decreased width of the anatomical entity", - "abnormal craniocervical region morphology", - "paired limb/fin skeleton", - "postcranial axial skeletal system", - "All", - "segment of autopod", - "Eumetazoa", - "phenotype", - "Abnormal hair morphology", - "phenotype by ontology source", - "cell", - "abnormal integumentary adnexa morphology", - "aplasia or hypoplasia of telencephalon", - "abnormal brain morphology", + "Abnormality of globe size", + "Intellectual disability", + "abnormal digestive system morphology", + "bone marrow", + "acropodium region", + "Aplasia/hypoplasia of the extremities", "forelimb", - "abnormal chromatin organization", - "abnormal DNA metabolic process", - "Abnormal scalp morphology", - "internal female genitalia", - "metabolic process", - "cellular process", - "Prominent nasal bridge", - "Abnormality of the female genitalia", - "abnormal primary metabolic process", - "abnormal nitrogen compound metabolic process", - "Abnormal thumb morphology", - "regulation of biological process", - "Abnormality of brain morphology", - "abnormal programmed DNA elimination by chromosome breakage", - "Abnormal external nose morphology", + "Abnormal skeletal morphology", + "aplasia or hypoplasia of manual digit", + "digit 1", + "obsolete heterocycle metabolic process", + "erythroid lineage cell", + "Abnormal axial skeleton morphology", + "postcranial axial skeleton", + "bone of free limb or fin", + "abnormal autopod region morphology", + "Absent thumb", + "anterior region of body", + "aplastic anatomical entity", + "autopodial skeleton", + "bone element", + "sense organ", + "abnormal limb bone", + "Abnormal nervous system morphology", + "abnormal immune system morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "manual digit 1", + "Abnormality of metabolism/homeostasis", + "abnormal anus morphology", + "organism subdivision", + "occurrent", + "organ", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "bone of pectoral complex", "entity", - "Abnormal facial shape", - "acropodium region", - "abnormal cellular metabolic process", - "abnormality of multicellular organism height", - "Aplasia/Hypoplasia involving the nose", + "subdivision of skeletal system", + "Delayed gross motor development", + "subdivision of skeleton", + "endochondral bone", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal head", + "arm", + "Abnormal myeloid cell morphology", + "digit 1 or 5", + "bone cell", + "Aplasia/Hypoplasia of the thumb", + "regulation of biosynthetic process", + "absent anatomical entity in the independent continuant", + "Neoplasm by anatomical site", + "cell", + "limb", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "trunk region element", + "pectoral complex", + "eye", "Opisthokonta", - "regulation of metabolic process", - "non-material anatomical boundary", + "paired limb/fin segment", + "appendicular skeletal system", + "skeleton of pectoral complex", + "limb skeleton subdivision", + "abnormal forelimb zeugopod bone", + "abnormal manual digit morphology in the independent continuant", + "manus", + "abnormal limb", "Abnormality of digestive system morphology", - "behavior process", - "negative regulation of biological process", - "macromolecule metabolic process", - "prominent nasal bridge", - "obsolete heterocycle metabolic process", - "quality", - "aplasia or hypoplasia of anatomical entity", - "abnormal orbital region", - "orifice", - "regulation of cellular metabolic process", - "subdivision of skeletal system", - "sense organ", - "abnormal postcranial axial skeleton morphology", - "deviation of digit towards the middle", - "Abnormal eyelid morphology", - "hematopoietic cell", - "Decreased head circumference", - "Abnormal erythrocyte morphology", - "nucleic acid metabolic process", - "organelle organization", - "ovary", - "abnormal phenotype by ontology source", - "Gonadal neoplasm", - "regulation of biosynthetic process", - "decreased qualitatively growth", - "Abnormality of the eye", - "abnormal ocular adnexa morphology", - "strand of hair", - "internal genitalia", - "programmed DNA elimination", + "Microphthalmia", "abnormal skeletal system", - "cellular metabolic process", - "limb segment", - "abnormal anatomical entity topology in independent continuant", - "negative regulation of gene expression", - "Abnormal oral cavity morphology", - "Abnormal ocular adnexa morphology", - "Abnormal size of the palpebral fissures", - "postcranial axial skeleton", - "anatomical structure", - "Chromosome breakage", - "digit 1 or 5", - "Intellectual disability", - "negative regulation of metabolic process", - "abnormal camera-type eye morphology", - "decreased size of the anatomical entity", - "musculoskeletal system", - "multicellular anatomical structure", - "craniocervical region", - "female organism", - "cognition", - "regulation of cellular process", - "Ataxia", - "nucleobase-containing compound metabolic process", - "Metazoa", - "Cognitive impairment", - "abnormal behavior", - "abnormal nervous system", + "macromolecule metabolic process", + "appendage girdle complex", + "Localized skin lesion", + "immaterial entity", + "Abnormal hand morphology", + "abnormal limb morphology", + "forelimb zeugopod skeleton", + "mesoderm-derived structure", + "cerebellum", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "abnormal closing of the anatomical entity", + "Hydrocephalus", + "malformed anatomical entity", + "Morphological central nervous system abnormality", + "cavitated compound organ", + "abnormal brain morphology", + "bone of appendage girdle complex", + "anatomical wall", + "organ component layer", + "organism substance", + "Microcephaly", + "abnormal forelimb zeugopod morphology", + "central nervous system", + "ventricular system of central nervous system", + "abnormal anus", + "Chiari malformation", + "anatomical conduit", + "Abnormality of the head", + "abnormally increased number of anatomical entity", + "Abnormality of the urinary system", + "transudate", + "forelimb bone", + "skull", + "abnormal cerebrospinal fluid morphology", + "abnormal brain ventricle morphology", + "abnormally formed anatomical entity in independent continuant", + "oral cavity", + "dysgenesis of the radius bone", + "Abnormality of chromosome stability", + "abnormal kidney", "abnormal central nervous system morphology", - "root", - "Abnormality of the nervous system", - "Abnormal nervous system physiology", - "abnormality of anatomical entity mass", - "bone element", - "abnormal cell", - "Upslanted palpebral fissure", - "disconnected anatomical group", - "abnormal cartilage tissue morphology", - "female reproductive organ", - "Aplasia/Hypoplasia involving the central nervous system", - "mouth", - "Abnormality of the digestive system", - "Atypical behavior", - "abnormal skin of head morphology", - "organ part", - "abnormal internal genitalia", + "craniocervical region", + "abnormal long bone morphology", + "abnormal cell morphology", + "abnormal nervous system morphology", + "Tooth agenesis", + "Abnormal cerebral morphology", "specifically dependent continuant", - "Low anterior hairline", - "eyelash", "abnormal anatomical entity morphology", - "breast", - "primary metabolic process", - "cellular component organization", - "Abnormality of the ovary", - "manual digit 1 or 5", - "abnormal reproductive system", - "reproductive structure", - "negative regulation of cellular process", - "nervous system", - "material entity", - "changed biological_process rate", - "abnormal metabolic process", - "Decreased anatomical entity mass", - "Abnormality of skin morphology", - "multicellular organismal process", - "material anatomical entity", - "abnormal skin of face morphology", - "organic substance metabolic process", - "negative regulation of macromolecule metabolic process", - "abnormal upper lip morphology", - "increased length of the anatomical line between pupils", - "abnormal nervous system morphology", - "reproductive system", - "nose", - "deviation of manual digit", - "external integument structure", - "obsolete nitrogen compound metabolic process", - "continuant", - "regulation of macromolecule metabolic process", - "segment of manus", - "abnormal anatomical entity morphology in the independent continuant", - "eyelid", - "Abnormality of upper lip vermillion", - "independent continuant", - "increased size of the calcareous tooth", - "negative regulation of cellular metabolic process", - "skin of face", - "appendage girdle complex", - "decreased size of the eyeball of camera-type eye", - "Ovarian neoplasm", - "digit", - "Abnormality of the skeletal system", - "Abnormality of the skin", - "negative regulation of macromolecule biosynthetic process", - "Abnormality of the genitourinary system", - "Abnormal hair pattern", - "negative regulation of cellular biosynthetic process", - "Hypertelorism", - "anatomical system", - "organic cyclic compound metabolic process", - "Clinodactyly", - "Neoplasm of the genitourinary tract", - "abnormal anatomical entity morphology in the brain", - "abnormal internal female genitalia morphology", - "abnormal reproductive system morphology", - "negative regulation of biosynthetic process", - "regulation of cellular biosynthetic process", - "abnormal oral cavity morphology", - "reproductive organ", - "Short palpebral fissure", - "abnormal location of anatomical entity", - "Abnormal morphology of female internal genitalia", - "paired limb/fin", - "abnormal lip morphology", - "Abnormality of the hairline", + "arm bone", + "ventricle of nervous system", + "axial skeletal system", + "Radial dysplasia", + "Abnormal long bone morphology", + "abnormal radius bone morphology", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "long bone", + "abnormal DNA metabolic process", + "blood cell", + "abnormal manual digit morphology in the manus", + "radius bone", + "forelimb long bone", + "obsolete cell", + "compound organ", + "zeugopodial skeleton", + "limb long bone", + "dysgenesis of the anatomical entity", + "subdivision of head", + "Abnormality of brain morphology", + "forelimb zeugopod bone", + "metencephalon", + "abnormal digestive system", "abnormal anatomical entity", - "gonad", - "external nose", - "increased length of the epicanthal fold", - "abnormal hematopoietic cell morphology", - "abnormal limb morphology", - "Coarse facial features", - "regulation of gene expression", - "increased length of the strand of hair", - "abnormal female reproductive organ morphology", - "abnormal female reproductive system", - "upper eyelid", - "decreased growth", + "Abnormal forearm morphology", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "trunk", + "Abnormality of the vertebral column", "tissue", - "multicellular organism", - "Abnormality of the genital system", + "abnormal axial skeleton plus cranial skeleton morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal oral cavity morphology", + "telencephalon", + "vertebral column", + "Abnormal bone structure", + "abnormal vertebral column", + "erythrocyte", + "organ system subdivision", + "Abnormality of the anus", + "regulation of macromolecule metabolic process", + "Abnormality of the digestive system", + "anus", + "protein-DNA complex organization", + "Abnormal anus morphology", + "DNA metabolic process", + "orifice", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "immaterial anatomical entity", + "anus atresia", + "sensory system", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Aplasia/Hypoplasia of the cerebrum", + "Chiari type I malformation", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "Metazoa", ], }, ], diff --git a/frontend/fixtures/association-counts.json b/frontend/fixtures/association-counts.json index 28671236e..a8db384e4 100644 --- a/frontend/fixtures/association-counts.json +++ b/frontend/fixtures/association-counts.json @@ -2,7 +2,7 @@ "items": [ { "label": "Phenotype to Disease", - "count": 3941, + "count": 3959, "category": "biolink:DiseaseToPhenotypicFeatureAssociation" }, { @@ -14,16 +14,6 @@ "label": "Correlated Gene", "count": 146, "category": "biolink:CorrelatedGeneToDiseaseAssociation" - }, - { - "label": "Variant to Disease", - "count": 1, - "category": "biolink:VariantToDiseaseAssociation" - }, - { - "label": "Disease Model", - "count": 243, - "category": "biolink:GenotypeToDiseaseAssociation" } ] } diff --git a/frontend/fixtures/association-table.json b/frontend/fixtures/association-table.json index 689b8b3ff..a547cef92 100644 --- a/frontend/fixtures/association-table.json +++ b/frontend/fixtures/association-table.json @@ -1,257 +1,159 @@ { "limit": 5, "offset": 0, - "total": 3941, + "total": 3959, "items": [ { - "id": "uuid:2d23fd60-25e0-11ef-abb5-e629eea977bb", + "id": "uuid:0f88c0b8-38d8-11ef-8dc1-0579903a0a12", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0013049", - "original_subject": "OMIM:612937", + "subject": "MONDO:0958233", + "original_subject": "OMIM:620725", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", + "MONDO:0020121", + "MONDO:0019952", "BFO:0000017", - "MONDO:0005500", - "MONDO:0005066", + "OGMS:0000031", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0005071", + "MONDO:0100546", + "MONDO:0008029", + "MONDO:0000001", + "MONDO:0016106", "BFO:0000002", - "MONDO:0700096", - "MONDO:0020121", - "MONDO:0017749", - "MONDO:0019950", - "MONDO:0018276", - "MONDO:0024322", - "BFO:0000020", + "MONDO:0958233", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", "MONDO:0005336", - "MONDO:0100545", - "MONDO:0019052", - "MONDO:0015286", + "BFO:0000020", "MONDO:0002320", - "MONDO:0013049", - "BFO:0000016", "BFO:0000001", - "MONDO:0000001", - "MONDO:0100546", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056" + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0019950", + "MONDO:0003847", + "MONDO:0700096" ], - "subject_label": "DPM3-congenital disorder of glycosylation", + "subject_label": "Bethlem myopathy 1B", "subject_closure_label": [ - "DPM3-congenital disorder of glycosylation", "hereditary neuromuscular disease", + "disposition", "hereditary disease", + "nervous system disorder", + "continuant", "muscle tissue disorder", - "realizable entity", - "human disease", - "disease", - "disease", "muscular dystrophy", - "congenital disorder of glycosylation type I", - "metabolic disease", - "muscular dystrophy-dystroglycanopathy", - "myopathy", - "hereditary neurological disease", - "inborn errors of metabolism", - "disorder of glycosylation", - "musculoskeletal system disorder", + "disease", + "Bethlem myopathy", + "hereditary skeletal muscle disorder", "skeletal muscle disorder", "neuromuscular disease", - "hereditary skeletal muscle disorder", - "specifically dependent continuant", + "congenital nervous system disorder", "entity", + "specifically dependent continuant", + "progressive muscular dystrophy", + "disease", + "Bethlem myopathy 1B", + "hereditary neurological disease", + "musculoskeletal system disorder", "congenital muscular dystrophy", - "disorder of multiple glycosylation", - "nervous system disorder", - "continuant", - "disposition", - "congenital disorder of glycosylation", - "congenital nervous system disorder" + "congenital myopathy", + "realizable entity", + "human disease", + "myopathy" ], "subject_taxon": null, "subject_taxon_label": null, "predicate": "biolink:has_phenotype", - "object": "HP:0003236", + "object": "HP:0003701", "original_object": null, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0051763", - "HP:0040081", - "UPHENO:0001003", - "BFO:0000040", - "CHEBI:33579", - "UBERON:0000468", - "CHEBI:33302", - "CHEBI:33304", - "GO:0002185", - "CHEBI:16541", - "HP:0001871", - "UPHENO:0077821", - "UPHENO:0002536", - "HP:0032180", - "HP:0033405", - "HP:0003236", - "BFO:0000015", - "BFO:0000004", - "UBERON:0010000", - "UBERON:0000467", - "GO:0061695", - "CHEBI:15841", + "UPHENO:0001001", "BFO:0000002", - "UPHENO:0046284", - "HP:0010876", - "GO:0032991", - "CHEBI:23367", - "UBERON:0000061", - "UBERON:0000463", - "UBERON:0002390", - "UBERON:0000179", - "CHEBI:33582", - "CHEBI:51143", - "CHEBI:25806", - "CHEBI:36962", + "UPHENO:0002332", + "BFO:0000001", + "UPHENO:0002816", + "PATO:0000001", "HP:0000001", - "HP:0011021", - "UPHENO:0001002", "HP:0000118", - "HP:0001939", - "UPHENO:0051612", - "UPHENO:0051804", - "UBERON:0004120", - "UBERON:0006314", - "HP:0430071", - "BFO:0000020", - "UPHENO:0081547", - "UPHENO:0077826", - "UBERON:0001062", - "CHEBI:16670", - "UPHENO:0076286", - "GO:0008152", - "CHEBI:50860", - "CHEBI:50047", - "CHEBI:37622", - "CHEBI:33256", - "UPHENO:0076289", - "BFO:0000001", - "GO:0008150", - "CHEBI:33675", - "UBERON:0002193", - "UPHENO:0051668", - "UPHENO:0004459", + "UBERON:0000062", + "UPHENO:0082875", + "UPHENO:0080555", + "HP:0011804", + "UBERON:0000467", + "UBERON:0005090", "BFO:0000001", - "UBERON:0000178", - "GO:1990234", - "CHEBI:33839", - "CHEBI:35352", - "CHEBI:32988", - "CHEBI:36963", - "CHEBI:33285", - "HP:0004364", - "UPHENO:0051801", - "PATO:0000001", - "UPHENO:0001001", - "UPHENO:0001005", - "BFO:0000003", + "UBERON:0000061", + "UBERON:0000468", + "UBERON:0011216", + "HP:0003011", + "UPHENO:0002536", + "UBERON:0000383", + "UBERON:0001015", "BFO:0000002", - "GO:0005575", - "CHEBI:24431", - "UBERON:0000465", - "PR:000050567", - "GO:1902494", - "CHEBI:36357" + "UPHENO:0001005", + "UPHENO:0001002", + "BFO:0000040", + "UBERON:0001062", + "UBERON:0010000", + "UBERON:0001630", + "UPHENO:0075696", + "BFO:0000020", + "BFO:0000004", + "HP:0001324", + "HP:0033127", + "UPHENO:0001003", + "UPHENO:0002320", + "HP:0003701", + "UPHENO:0080556", + "UBERON:0000465" ], - "object_label": "Elevated circulating creatine kinase concentration", + "object_label": "Proximal muscle weakness", "object_closure_label": [ - "abnormal independent continuant chemical entity level", - "abnormal independent continuant protein polypeptide chain level", - "multicellular organism", - "abnormal phenotype by ontology source", - "Abnormality of blood and blood-forming tissues", - "abnormal independent continuant nitrogen molecular entity level", - "Abnormal circulating protein concentration", - "quality", - "material entity", - "catalytic complex", - "polyatomic entity", - "creatine kinase complex", - "protein polypeptide chain", - "organonitrogen compound", - "amide", - "organooxygen compound", - "heteroorganic entity", - "Abnormal circulating nitrogen compound concentration", - "Elevated circulating creatine kinase concentration", - "main group molecular entity", - "macromolecule", - "transferase complex", - "organic molecular entity", - "Abnormal circulating organic compound concentration", - "abnormal role blood level", - "abnormal role bodily fluid level", - "abnormal blood nitrogen molecular entity level", - "occurrent", - "continuant", + "phenotype", + "abnormal musculature", + "abnormality of muscle organ physiology", "multicellular anatomical structure", - "anatomical system", - "organic amino compound", - "carboxamide", - "primary amide", - "abnormal role independent continuant level", - "Phenotypic abnormality", - "abnormal chemical entity level", - "abnormal anatomical entity", - "anatomical structure", - "organism substance", - "transferase complex, transferring phosphorus-containing groups", - "polypeptide", - "Abnormal circulating creatine kinase concentration", - "phenotype by ontology source", - "Abnormal circulating metabolite concentration", - "Abnormal circulating organic amino compound concentration", - "entity", - "process", + "muscle organ", + "Abnormality of the musculature", "independent continuant", - "nitrogen molecular entity", - "oxygen molecular entity", - "organochalcogen compound", "All", - "Abnormality of circulating enzyme level", + "entity", + "abnormal phenotype by ontology source", "Phenotypic abnormality", - "cellular_component", - "chemical entity", - "material anatomical entity", - "protein-containing material entity", - "p-block molecular entity", - "hemolymphoid system", - "abnormal multicellular organism chemical entity level", + "Abnormal muscle physiology", + "abnormal anatomical entity", "specifically dependent continuant", - "entity", - "abnormal blood protein polypeptide chain level", - "abnormal blood chemical entity level", - "protein-containing complex", - "molecular entity", - "carbon group molecular entity", - "peptide", - "Abnormality of metabolism/homeostasis", - "biological_process", - "metabolic process", - "mesoderm-derived structure", - "bodily fluid", - "pnictogen molecular entity", - "chalcogen molecular entity", - "phenotype", "continuant", - "abnormal hematopoietic system", + "abnormality of anatomical entity physiology", + "continuant", + "decreased anatomical entity strength", + "abnormal anatomical entity", + "multicellular organism", + "organ system subdivision", + "abnormality of anatomical entity physiology", + "material entity", "anatomical entity", - "blood", - "hematopoietic system", - "haemolymphatic fluid" + "Muscle weakness", + "Abnormality of the musculoskeletal system", + "phenotype by ontology source", + "organ", + "musculature of body", + "musculature", + "quality", + "Phenotypic abnormality", + "decreased muscle organ strength", + "anatomical structure", + "Proximal muscle weakness", + "material anatomical entity", + "entity", + "anatomical system", + "muscle structure" ], "object_taxon": null, "object_taxon_label": null, @@ -269,25 +171,25 @@ "url": "http://purl.obolibrary.org/obo/ECO_0000269" } ], - "has_count": 2, - "has_total": 2, + "has_count": 11, + "has_total": 11, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0013049||biolink:has_phenotype|HP:0003236", + "grouping_key": "MONDO:0958233||biolink:has_phenotype|HP:0003701", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype" }, - "publications": ["PMID:19576565", "PMID:28803818"], + "publications": ["PMID:11865138", "PMID:17886299"], "publications_links": [ { - "id": "PMID:19576565", - "url": "http://identifiers.org/pubmed/19576565" + "id": "PMID:11865138", + "url": "http://identifiers.org/pubmed/11865138" }, { - "id": "PMID:28803818", - "url": "http://identifiers.org/pubmed/28803818" + "id": "PMID:17886299", + "url": "http://identifiers.org/pubmed/17886299" } ], "frequency_qualifier": null, @@ -332,160 +234,254 @@ "has_percentage_sortable_float": [100.0] }, { - "id": "uuid:2e779d52-25e0-11ef-abb5-e629eea977bb", + "id": "uuid:0b39d5c5-38d8-11ef-8dc1-0579903a0a12", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0009676", - "original_subject": "OMIM:253601", + "subject": "MONDO:0013049", + "original_subject": "OMIM:612937", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0700223", - "MONDO:0016106", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", - "MONDO:0016145", + "MONDO:0020121", "BFO:0000017", - "MONDO:0005071", + "OGMS:0000031", "BFO:0000002", - "MONDO:0700096", - "MONDO:0020121", - "MONDO:0000429", - "BFO:0000020", - "MONDO:0016971", - "MONDO:0006025", - "MONDO:0005336", - "MONDO:0100545", - "MONDO:0009676", - "MONDO:0015152", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0005071", + "MONDO:0100546", + "MONDO:0000001", + "MONDO:0005500", + "MONDO:0005066", + "MONDO:0013049", + "MONDO:0018276", + "MONDO:0015286", + "MONDO:0024322", "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "MONDO:0017749", + "MONDO:0002320", "BFO:0000001", - "MONDO:0000001", - "MONDO:0100546", - "MONDO:0016139", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056" + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0019950", + "MONDO:0003847", + "MONDO:0700096", + "MONDO:0019052" ], - "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2B", + "subject_label": "DPM3-congenital disorder of glycosylation", "subject_closure_label": [ "hereditary neuromuscular disease", - "qualitative or quantitative protein defects in neuromuscular diseases", + "disorder of glycosylation", + "disposition", "hereditary disease", + "nervous system disorder", "muscle tissue disorder", - "limb-girdle muscular dystrophy", - "realizable entity", - "human disease", - "disease", - "disease", "muscular dystrophy", - "autosomal genetic disease", - "progressive muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "musculoskeletal system disorder", + "disease", + "disorder of multiple glycosylation", + "hereditary skeletal muscle disorder", + "congenital disorder of glycosylation type I", + "metabolic disease", + "DPM3-congenital disorder of glycosylation", + "continuant", "skeletal muscle disorder", "neuromuscular disease", - "hereditary skeletal muscle disorder", - "specifically dependent continuant", + "congenital nervous system disorder", "entity", - "qualitative or quantitative defects of dysferlin", - "autosomal recessive disease", - "nervous system disorder", - "continuant", - "disposition", - "autosomal recessive limb-girdle muscular dystrophy type 2B", - "autosomal recessive limb-girdle muscular dystrophy" + "muscular dystrophy-dystroglycanopathy", + "specifically dependent continuant", + "congenital disorder of glycosylation", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital muscular dystrophy", + "realizable entity", + "human disease", + "inborn errors of metabolism", + "myopathy" ], "subject_taxon": null, "subject_taxon_label": null, "predicate": "biolink:has_phenotype", - "object": "HP:0003701", + "object": "HP:0003236", "original_object": null, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "HP:0033127", + "UPHENO:0077821", + "CHEBI:33302", + "CHEBI:33304", + "BFO:0000002", + "PR:000050567", + "CHEBI:33582", + "CHEBI:16670", + "HP:0000001", + "HP:0011021", + "HP:0000118", "UPHENO:0001003", - "BFO:0000040", - "UBERON:0001062", + "UBERON:0000178", + "HP:0004364", + "HP:0010876", + "HP:0003236", + "GO:0008152", "UBERON:0000467", - "UBERON:0005090", + "CHEBI:33579", + "UPHENO:0051668", + "GO:0032991", + "CHEBI:23367", "UBERON:0000468", - "UBERON:0011216", - "HP:0003701", + "UPHENO:0001001", + "UPHENO:0046284", + "BFO:0000001", + "HP:0001871", "UPHENO:0002536", - "HP:0011804", - "BFO:0000004", - "UBERON:0010000", + "CHEBI:50860", + "HP:0430071", + "UPHENO:0004459", + "BFO:0000003", "BFO:0000002", - "HP:0003011", - "UPHENO:0002816", - "UBERON:0000061", - "HP:0000001", - "HP:0001324", - "HP:0000118", + "UBERON:0002390", + "UBERON:0000179", + "GO:0002185", + "CHEBI:16541", "UPHENO:0001002", + "UPHENO:0081547", + "UPHENO:0077826", + "HP:0032180", + "HP:0033405", + "UBERON:0001062", + "CHEBI:51143", + "CHEBI:25806", + "CHEBI:36962", + "UPHENO:0001005", "BFO:0000020", - "UPHENO:0002320", - "UPHENO:0080555", - "UBERON:0000383", - "UBERON:0001015", - "UPHENO:0075696", - "BFO:0000001", - "UBERON:0001630", + "CHEBI:35352", + "CHEBI:32988", + "CHEBI:36963", + "CHEBI:33285", + "UPHENO:0051763", + "UPHENO:0051804", + "GO:0008150", + "BFO:0000040", + "UBERON:0010000", + "CHEBI:33675", + "UBERON:0002193", + "UPHENO:0076289", + "HP:0001939", "BFO:0000001", - "UPHENO:0082875", - "UPHENO:0080556", + "BFO:0000015", + "BFO:0000004", + "GO:1902494", + "CHEBI:36357", + "GO:0061695", + "CHEBI:15841", + "UPHENO:0076286", + "HP:0040081", "PATO:0000001", - "UBERON:0000062", - "UPHENO:0001001", - "UPHENO:0001005", - "UPHENO:0002332", - "BFO:0000002", + "UPHENO:0051612", + "UBERON:0000061", + "UBERON:0000463", + "GO:1990234", + "CHEBI:33839", + "CHEBI:50047", + "CHEBI:37622", + "CHEBI:33256", + "UBERON:0004120", + "UBERON:0006314", + "UPHENO:0051801", + "GO:0005575", + "CHEBI:24431", "UBERON:0000465" ], - "object_label": "Proximal muscle weakness", + "object_label": "Elevated circulating creatine kinase concentration", "object_closure_label": [ - "decreased muscle organ strength", - "multicellular organism", - "organ system subdivision", - "abnormality of muscle organ physiology", - "abnormal phenotype by ontology source", - "quality", + "entity", + "carbon group molecular entity", + "peptide", + "abnormal hematopoietic system", + "biological_process", "material entity", - "anatomical entity", - "musculature of body", - "musculature", - "abnormality of anatomical entity physiology", - "Abnormal muscle physiology", - "anatomical system", - "muscle structure", - "Proximal muscle weakness", - "continuant", "multicellular anatomical structure", - "abnormal anatomical entity", - "Muscle weakness", - "Abnormality of the musculature", - "abnormal musculature", - "abnormal anatomical entity", - "Phenotypic abnormality", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "entity", + "creatine kinase complex", + "protein polypeptide chain", + "p-block molecular entity", + "hemolymphoid system", + "abnormal chemical entity level", + "process", "independent continuant", "All", + "Abnormality of circulating enzyme level", + "pnictogen molecular entity", + "chalcogen molecular entity", "Phenotypic abnormality", - "abnormality of anatomical entity physiology", - "material anatomical entity", - "muscle organ", - "specifically dependent continuant", - "entity", + "Abnormal circulating protein concentration", + "Elevated circulating creatine kinase concentration", + "metabolic process", + "mesoderm-derived structure", + "bodily fluid", + "abnormal role independent continuant level", + "abnormal blood chemical entity level", "anatomical structure", - "decreased anatomical entity strength", - "organ", + "organism substance", + "abnormal independent continuant chemical entity level", + "continuant", + "entity", + "occurrent", + "continuant", + "hematopoietic system", + "haemolymphatic fluid", + "specifically dependent continuant", + "catalytic complex", + "polyatomic entity", + "organic molecular entity", + "abnormal phenotype by ontology source", + "abnormal anatomical entity", + "protein-containing material entity", + "multicellular organism", + "Abnormal circulating nitrogen compound concentration", + "Abnormality of blood and blood-forming tissues", + "anatomical entity", "phenotype", - "continuant" + "abnormal role blood level", + "Abnormal circulating creatine kinase concentration", + "quality", + "abnormal blood protein polypeptide chain level", + "blood", + "organonitrogen compound", + "amide", + "organooxygen compound", + "heteroorganic entity", + "abnormal independent continuant nitrogen molecular entity level", + "phenotype by ontology source", + "transferase complex, transferring phosphorus-containing groups", + "polypeptide", + "nitrogen molecular entity", + "oxygen molecular entity", + "organochalcogen compound", + "Abnormal circulating organic compound concentration", + "Phenotypic abnormality", + "abnormal independent continuant protein polypeptide chain level", + "protein-containing complex", + "molecular entity", + "transferase complex", + "macromolecule", + "carboxamide", + "organic amino compound", + "primary amide", + "abnormal role bodily fluid level", + "abnormal blood nitrogen molecular entity level", + "Abnormal circulating metabolite concentration", + "Abnormal circulating organic amino compound concentration", + "cellular_component", + "chemical entity", + "material anatomical entity", + "abnormal multicellular organism chemical entity level", + "Abnormality of metabolism/homeostasis", + "anatomical system", + "main group molecular entity" ], "object_taxon": null, "object_taxon_label": null, @@ -503,25 +499,25 @@ "url": "http://purl.obolibrary.org/obo/ECO_0000269" } ], - "has_count": 32, - "has_total": 32, + "has_count": 2, + "has_total": 2, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0009676||biolink:has_phenotype|HP:0003701", + "grouping_key": "MONDO:0013049||biolink:has_phenotype|HP:0003236", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype" }, - "publications": ["PMID:9731527", "PMID:9009996"], + "publications": ["PMID:19576565", "PMID:28803818"], "publications_links": [ { - "id": "PMID:9731527", - "url": "http://identifiers.org/pubmed/9731527" + "id": "PMID:19576565", + "url": "http://identifiers.org/pubmed/19576565" }, { - "id": "PMID:9009996", - "url": "http://identifiers.org/pubmed/9009996" + "id": "PMID:28803818", + "url": "http://identifiers.org/pubmed/28803818" } ], "frequency_qualifier": null, @@ -566,290 +562,160 @@ "has_percentage_sortable_float": [100.0] }, { - "id": "uuid:2c1c7500-25e0-11ef-abb5-e629eea977bb", + "id": "uuid:0dc5ac14-38d8-11ef-8dc1-0579903a0a12", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0011968", - "original_subject": "OMIM:608099", + "subject": "MONDO:0009676", + "original_subject": "OMIM:253601", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0004995", - "MONDO:0016140", - "MONDO:0700223", - "MONDO:0016106", - "MONDO:0002081", - "MONDO:0016141", - "MONDO:0003847", - "MONDO:0003939", + "MONDO:0020121", "BFO:0000017", + "OGMS:0000031", + "BFO:0000002", + "MONDO:0020120", + "MONDO:0019056", + "BFO:0000001", "MONDO:0005071", - "MONDO:0005267", - "MONDO:0005217", - "MONDO:0700096", - "MONDO:0000591", - "MONDO:0004994", - "MONDO:0020121", - "MONDO:0016333", + "MONDO:0100546", + "MONDO:0000001", + "MONDO:0016106", + "MONDO:0009676", + "MONDO:0016145", + "MONDO:0015152", "MONDO:0000429", - "MONDO:0016971", - "MONDO:0006025", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", "MONDO:0005336", - "MONDO:0100545", - "MONDO:0005021", - "BFO:0000001", "BFO:0000020", - "MONDO:0015152", - "BFO:0000002", - "BFO:0000016", - "MONDO:0000001", - "MONDO:0011968", - "MONDO:0100546", - "MONDO:0100547", + "MONDO:0006025", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0003847", + "MONDO:0016971", "MONDO:0016139", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056" + "MONDO:0700096" ], - "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", + "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2B", "subject_closure_label": [ - "autosomal recessive limb-girdle muscular dystrophy type 2D", "hereditary neuromuscular disease", - "cardiogenetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", + "limb-girdle muscular dystrophy", + "disposition", "hereditary disease", + "nervous system disorder", "muscle tissue disorder", - "limb-girdle muscular dystrophy", - "realizable entity", - "human disease", - "intrinsic cardiomyopathy", - "disease", - "disease", "muscular dystrophy", - "autosomal genetic disease", - "progressive muscular dystrophy", - "myopathy", - "hereditary neurological disease", + "disease", + "hereditary skeletal muscle disorder", + "autosomal recessive disease", "continuant", - "familial cardiomyopathy", - "entity", - "musculoskeletal system disorder", - "qualitative or quantitative defects of alpha-sarcoglycan", - "cardiomyopathy", - "specifically dependent continuant", "skeletal muscle disorder", "neuromuscular disease", - "cardiovascular disorder", - "sarcoglycanopathy", - "hereditary skeletal muscle disorder", - "familial dilated cardiomyopathy", - "dilated cardiomyopathy", - "autosomal recessive disease", - "nervous system disorder", - "heart disorder", - "disposition", - "autosomal recessive limb-girdle muscular dystrophy" + "qualitative or quantitative defects of dysferlin", + "specifically dependent continuant", + "progressive muscular dystrophy", + "autosomal recessive limb-girdle muscular dystrophy", + "disease", + "autosomal recessive limb-girdle muscular dystrophy type 2B", + "hereditary neurological disease", + "musculoskeletal system disorder", + "realizable entity", + "autosomal genetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "myopathy", + "entity" ], "subject_taxon": null, "subject_taxon_label": null, "predicate": "biolink:has_phenotype", - "object": "HP:0008981", + "object": "HP:0003701", "original_object": null, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "HP:0008981", - "UPHENO:0065599", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0002647", - "BFO:0000001", - "BFO:0000040", - "UBERON:0001062", - "UBERON:0005090", - "UBERON:0018254", - "UBERON:0011216", - "UBERON:0014892", - "UPHENO:0075777", - "UPHENO:0002536", - "UPHENO:0076710", - "UPHENO:0084489", - "UBERON:0010000", - "UBERON:0000467", - "UBERON:0010709", - "UBERON:0006058", + "UPHENO:0001001", "BFO:0000002", - "HP:0003011", + "UPHENO:0002332", + "BFO:0000001", "UPHENO:0002816", - "UPHENO:0020584", - "HP:0008968", - "BFO:0000002", - "UBERON:0000061", - "UBERON:0002103", - "UBERON:0010538", - "UBERON:0007271", - "UBERON:0014792", - "UBERON:0003823", - "UBERON:0004256", - "UBERON:0006067", + "PATO:0000001", "HP:0000001", - "UPHENO:0002644", "HP:0000118", + "UBERON:0000062", + "UPHENO:0082875", + "UPHENO:0080555", + "HP:0011804", + "UBERON:0000467", + "UBERON:0005090", "BFO:0000001", - "UPHENO:0002830", - "UBERON:0002101", - "UBERON:0004709", - "UPHENO:0084535", - "HP:0011805", - "HP:0003712", - "UPHENO:0001002", - "BFO:0000020", - "UBERON:0004466", - "HP:0002814", - "HP:0001430", - "UPHENO:0001072", - "UPHENO:0003070", + "UBERON:0000061", + "UBERON:0000468", + "UBERON:0011216", + "HP:0003011", + "UPHENO:0002536", "UBERON:0000383", "UBERON:0001015", - "UBERON:0010890", - "UBERON:0003661", - "UBERON:0008784", - "UBERON:0002471", - "UBERON:0004482", - "UBERON:0001383", - "HP:0002981", - "UPHENO:0084763", - "UPHENO:0075195", - "HP:0030236", - "UPHENO:0084715", - "UPHENO:0084767", - "HP:0040064", - "PR:000050567", + "BFO:0000002", + "UPHENO:0001005", + "UPHENO:0001002", + "BFO:0000040", + "UBERON:0001062", + "UBERON:0010000", "UBERON:0001630", - "UBERON:0010758", "UPHENO:0075696", - "UPHENO:0075952", + "BFO:0000020", "BFO:0000004", - "UBERON:0004708", - "UBERON:0010707", - "UBERON:0000978", - "UBERON:0002529", - "UBERON:0007270", - "UBERON:0004480", - "UBERON:0014795", - "UBERON:0003663", - "UPHENO:0015280", - "UPHENO:0076692", - "PATO:0000001", - "UBERON:0000475", - "UBERON:0000062", - "UBERON:0000468", - "UBERON:0000026", - "UBERON:0000154", - "UPHENO:0001001", - "UPHENO:0001005", - "HP:0009127", - "HP:0001437", - "UBERON:0000465", - "RO:0002577", - "UBERON:0015212" + "HP:0001324", + "HP:0033127", + "UPHENO:0001003", + "UPHENO:0002320", + "HP:0003701", + "UPHENO:0080556", + "UBERON:0000465" ], - "object_label": "Calf muscle hypertrophy", + "object_label": "Proximal muscle weakness", "object_closure_label": [ - "abnormal hindlimb zeugopod", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal musculature of limb", - "organ system subdivision", - "Abnormality of the lower limb", - "abnormal phenotype by ontology source", - "Abnormality of the musculature of the limbs", - "abnormal anatomical entity morphology", - "quality", - "material entity", - "anatomical entity", - "lateral structure", - "musculature of body", - "musculature", - "leg", - "limb segment", - "pelvic appendage musculature", - "musculature of limb", - "pelvic appendage muscle", - "hindlimb muscle", - "Abnormality of the calf musculature", - "abnormal size of anatomical entity", - "Abnormality of the musculature of the lower limbs", - "hypertrophic multicellular anatomical structure", - "protein-containing material entity", - "muscle structure", - "skeletal musculature", - "appendage girdle complex", - "pelvic complex muscle", - "limb muscle", - "hypertrophic pelvic complex muscle", - "abnormal hindlimb zeugopod muscle", - "increased size of the anatomical entity", - "entity", + "phenotype", + "abnormal musculature", + "abnormality of muscle organ physiology", "multicellular anatomical structure", - "anatomical system", - "lower limb segment", - "zeugopod", - "musculature of lower limb", - "muscle of leg", - "Abnormality of the calf", + "muscle organ", "Abnormality of the musculature", - "abnormal musculature", - "abnormal anatomical entity", "independent continuant", - "anatomical structure", - "pelvic complex", - "abnormal anatomical entity", - "Abnormal skeletal muscle morphology", - "Skeletal muscle hypertrophy", - "Phenotypic abnormality", - "Abnormality of the musculoskeletal system", - "phenotype by ontology source", - "abnormal muscle organ morphology", - "paired limb/fin segment", - "appendage musculature", - "musculature of pelvic complex", - "hindlimb zeugopod", - "hindlimb zeugopod muscle", - "musculature of hindlimb zeugopod", "All", - "abnormal musculature of lower limb", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Phenotypic abnormality", - "abnormal anatomical entity morphology", - "Muscle hypertrophy of the lower extremities", - "material anatomical entity", - "system", - "muscle organ", - "appendage", - "posterior region of body", - "increased size of the anatomical entity in independent continuant", - "specifically dependent continuant", - "abnormal leg", - "abnormal limb", - "multi-limb segment region", - "musculature of leg", - "Calf muscle hypertrophy", "entity", - "limb", - "pelvic appendage", - "organism subdivision", - "organ", - "multicellular organism", - "skeletal muscle organ, vertebrate", - "phenotype", + "abnormal phenotype by ontology source", + "Phenotypic abnormality", + "Abnormal muscle physiology", + "abnormal anatomical entity", + "specifically dependent continuant", "continuant", - "Abnormality of muscle size", - "abnormally increased volume of anatomical entity", - "abnormal anatomical entity morphology in the pelvic complex", - "Abnormality of limbs", + "abnormality of anatomical entity physiology", "continuant", - "paired limb/fin", - "hindlimb", - "subdivision of organism along appendicular axis" + "decreased anatomical entity strength", + "abnormal anatomical entity", + "multicellular organism", + "organ system subdivision", + "abnormality of anatomical entity physiology", + "material entity", + "anatomical entity", + "Muscle weakness", + "Abnormality of the musculoskeletal system", + "phenotype by ontology source", + "organ", + "musculature of body", + "musculature", + "quality", + "Phenotypic abnormality", + "decreased muscle organ strength", + "anatomical structure", + "Proximal muscle weakness", + "material anatomical entity", + "entity", + "anatomical system", + "muscle structure" ], "object_taxon": null, "object_taxon_label": null, @@ -867,25 +733,25 @@ "url": "http://purl.obolibrary.org/obo/ECO_0000269" } ], - "has_count": 5, - "has_total": 5, + "has_count": 32, + "has_total": 32, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0008981", + "grouping_key": "MONDO:0009676||biolink:has_phenotype|HP:0003701", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype" }, - "publications": ["PMID:8069911", "PMID:8538707"], + "publications": ["PMID:9731527", "PMID:9009996"], "publications_links": [ { - "id": "PMID:8069911", - "url": "http://identifiers.org/pubmed/8069911" + "id": "PMID:9731527", + "url": "http://identifiers.org/pubmed/9731527" }, { - "id": "PMID:8538707", - "url": "http://identifiers.org/pubmed/8538707" + "id": "PMID:9009996", + "url": "http://identifiers.org/pubmed/9009996" } ], "frequency_qualifier": null, @@ -930,268 +796,290 @@ "has_percentage_sortable_float": [100.0] }, { - "id": "uuid:2c1c6614-25e0-11ef-abb5-e629eea977bb", + "id": "uuid:093061ab-38d8-11ef-8dc1-0579903a0a12", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "subject": "MONDO:0011968", "original_subject": "OMIM:608099", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ + "MONDO:0020121", "MONDO:0004995", "MONDO:0016140", - "MONDO:0700223", - "MONDO:0016106", - "MONDO:0002081", - "MONDO:0016141", - "MONDO:0003847", - "MONDO:0003939", "BFO:0000017", + "OGMS:0000031", + "MONDO:0005021", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0005071", "MONDO:0005267", - "MONDO:0005217", - "MONDO:0700096", - "MONDO:0000591", + "MONDO:0011968", + "MONDO:0100546", "MONDO:0004994", - "MONDO:0020121", "MONDO:0016333", + "MONDO:0000001", + "MONDO:0016106", + "MONDO:0000591", + "BFO:0000002", + "MONDO:0005217", + "MONDO:0015152", "MONDO:0000429", - "MONDO:0016971", - "MONDO:0006025", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", "MONDO:0005336", - "MONDO:0100545", - "MONDO:0005021", - "BFO:0000001", "BFO:0000020", - "MONDO:0015152", - "BFO:0000002", - "BFO:0000016", - "MONDO:0000001", - "MONDO:0011968", - "MONDO:0100546", + "MONDO:0006025", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0016141", + "MONDO:0003847", + "MONDO:0016971", "MONDO:0100547", "MONDO:0016139", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056" + "MONDO:0700096", + "BFO:0000001" ], "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", "subject_closure_label": [ "autosomal recessive limb-girdle muscular dystrophy type 2D", "hereditary neuromuscular disease", - "cardiogenetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", + "limb-girdle muscular dystrophy", + "disposition", "hereditary disease", + "nervous system disorder", + "heart disorder", + "continuant", "muscle tissue disorder", - "limb-girdle muscular dystrophy", - "realizable entity", - "human disease", - "intrinsic cardiomyopathy", - "disease", - "disease", "muscular dystrophy", - "autosomal genetic disease", - "progressive muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "continuant", + "cardiovascular disorder", + "sarcoglycanopathy", "familial cardiomyopathy", - "entity", - "musculoskeletal system disorder", - "qualitative or quantitative defects of alpha-sarcoglycan", + "disease", + "dilated cardiomyopathy", "cardiomyopathy", - "specifically dependent continuant", + "hereditary skeletal muscle disorder", + "intrinsic cardiomyopathy", + "autosomal recessive disease", "skeletal muscle disorder", "neuromuscular disease", - "cardiovascular disorder", - "sarcoglycanopathy", - "hereditary skeletal muscle disorder", + "specifically dependent continuant", + "progressive muscular dystrophy", + "autosomal recessive limb-girdle muscular dystrophy", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "qualitative or quantitative defects of alpha-sarcoglycan", + "realizable entity", "familial dilated cardiomyopathy", - "dilated cardiomyopathy", - "autosomal recessive disease", - "nervous system disorder", - "heart disorder", - "disposition", - "autosomal recessive limb-girdle muscular dystrophy" + "autosomal genetic disease", + "cardiogenetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "entity", + "myopathy" ], "subject_taxon": null, "subject_taxon_label": null, "predicate": "biolink:has_phenotype", - "object": "HP:0003236", + "object": "HP:0008981", "original_object": null, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0051763", - "HP:0040081", - "UPHENO:0001003", - "BFO:0000040", - "CHEBI:33579", - "UBERON:0000468", - "CHEBI:33302", - "CHEBI:33304", - "GO:0002185", - "CHEBI:16541", - "HP:0001871", - "UPHENO:0077821", - "UPHENO:0002536", - "HP:0032180", - "HP:0033405", - "HP:0003236", - "BFO:0000015", - "BFO:0000004", - "UBERON:0010000", - "UBERON:0000467", - "GO:0061695", - "CHEBI:15841", + "UPHENO:0065599", + "UPHENO:0015280", + "UPHENO:0076692", "BFO:0000002", - "UPHENO:0046284", - "HP:0010876", - "GO:0032991", - "CHEBI:23367", - "UBERON:0000061", - "UBERON:0000463", - "UBERON:0002390", - "UBERON:0000179", - "CHEBI:33582", - "CHEBI:51143", - "CHEBI:25806", - "CHEBI:36962", + "HP:0002814", + "BFO:0000002", + "BFO:0000001", + "RO:0002577", + "PR:000050567", + "UBERON:0014892", + "UBERON:0004466", + "UBERON:0003823", + "UBERON:0004256", + "UBERON:0006067", + "UPHENO:0002816", + "UBERON:0000026", "HP:0000001", - "HP:0011021", - "UPHENO:0001002", + "UPHENO:0002644", "HP:0000118", - "HP:0001939", - "UPHENO:0051612", - "UPHENO:0051804", - "UBERON:0004120", - "UBERON:0006314", - "HP:0430071", - "BFO:0000020", - "UPHENO:0081547", - "UPHENO:0077826", - "UBERON:0001062", - "CHEBI:16670", - "UPHENO:0076286", - "GO:0008152", - "CHEBI:50860", - "CHEBI:50047", - "CHEBI:37622", - "CHEBI:33256", - "UPHENO:0076289", - "BFO:0000001", - "GO:0008150", - "CHEBI:33675", - "UBERON:0002193", - "UPHENO:0051668", - "UPHENO:0004459", + "UBERON:0000475", + "UBERON:0000062", + "UPHENO:0084489", + "UBERON:0000467", + "UBERON:0005090", + "UBERON:0018254", + "UPHENO:0075952", + "HP:0030236", + "UPHENO:0084715", "BFO:0000001", - "UBERON:0000178", - "GO:1990234", - "CHEBI:33839", - "CHEBI:35352", - "CHEBI:32988", - "CHEBI:36963", - "CHEBI:33285", - "HP:0004364", - "UPHENO:0051801", - "PATO:0000001", + "UBERON:0000061", + "UBERON:0000468", + "UBERON:0011216", "UPHENO:0001001", + "HP:0008981", + "HP:0003011", + "HP:0001437", + "UPHENO:0002536", + "HP:0040064", + "UBERON:0000383", + "UBERON:0001015", + "UBERON:0010890", + "UBERON:0003661", + "UPHENO:0084535", + "UPHENO:0075777", + "HP:0011805", + "HP:0003712", + "UPHENO:0002647", + "UBERON:0002103", + "UPHENO:0001002", + "UPHENO:0076710", + "UBERON:0001062", + "UBERON:0010538", + "UBERON:0007271", + "UBERON:0014792", "UPHENO:0001005", - "BFO:0000003", - "BFO:0000002", - "GO:0005575", - "CHEBI:24431", - "UBERON:0000465", - "PR:000050567", - "GO:1902494", - "CHEBI:36357" + "HP:0009127", + "UPHENO:0084763", + "BFO:0000020", + "UPHENO:0020584", + "HP:0008968", + "UBERON:0000978", + "UBERON:0002529", + "UBERON:0007270", + "UBERON:0004480", + "UBERON:0014795", + "UBERON:0003663", + "UPHENO:0084767", + "BFO:0000040", + "UBERON:0010000", + "UBERON:0001630", + "HP:0002981", + "UBERON:0015212", + "UBERON:0010709", + "UBERON:0006058", + "HP:0001430", + "UPHENO:0001072", + "HP:0033127", + "UPHENO:0001003", + "PATO:0000001", + "UPHENO:0002830", + "UBERON:0004708", + "UBERON:0010707", + "UBERON:0000154", + "UBERON:0010758", + "UBERON:0008784", + "UBERON:0002471", + "UBERON:0004482", + "UBERON:0001383", + "UPHENO:0075696", + "UPHENO:0075195", + "UPHENO:0003070", + "BFO:0000004", + "UBERON:0002101", + "UBERON:0004709", + "UBERON:0000465" ], - "object_label": "Elevated circulating creatine kinase concentration", + "object_label": "Calf muscle hypertrophy", "object_closure_label": [ - "abnormal independent continuant chemical entity level", - "abnormal independent continuant protein polypeptide chain level", - "multicellular organism", - "abnormal phenotype by ontology source", - "Abnormality of blood and blood-forming tissues", - "abnormal independent continuant nitrogen molecular entity level", - "Abnormal circulating protein concentration", - "quality", + "Abnormality of the lower limb", + "abnormal musculature", + "Abnormality of the musculature of the lower limbs", + "skeletal muscle organ, vertebrate", + "musculature of leg", + "hindlimb zeugopod", + "hindlimb zeugopod muscle", + "musculature of hindlimb zeugopod", + "abnormal hindlimb zeugopod muscle", + "Abnormal skeletal muscle morphology", + "Skeletal muscle hypertrophy", + "abnormal leg", "material entity", - "catalytic complex", - "polyatomic entity", - "creatine kinase complex", - "protein polypeptide chain", - "organonitrogen compound", - "amide", - "organooxygen compound", - "heteroorganic entity", - "Abnormal circulating nitrogen compound concentration", - "Elevated circulating creatine kinase concentration", - "main group molecular entity", - "macromolecule", - "transferase complex", - "organic molecular entity", - "Abnormal circulating organic compound concentration", - "abnormal role blood level", - "abnormal role bodily fluid level", - "abnormal blood nitrogen molecular entity level", - "occurrent", - "continuant", "multicellular anatomical structure", - "anatomical system", - "organic amino compound", - "carboxamide", - "primary amide", - "abnormal role independent continuant level", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal musculature of limb", + "continuant", + "muscle organ", + "increased size of the anatomical entity in independent continuant", + "Abnormality of the musculature", + "abnormal anatomical entity morphology", + "appendage", + "All", + "abnormal musculature of lower limb", + "abnormal anatomical entity morphology in the pelvic complex", + "entity", "Phenotypic abnormality", - "abnormal chemical entity level", + "hypertrophic multicellular anatomical structure", + "limb", + "pelvic appendage", + "multi-limb segment region", + "Abnormality of the calf", + "paired limb/fin", + "posterior region of body", + "subdivision of organism along appendicular axis", + "abnormal hindlimb zeugopod", + "continuant", + "hindlimb", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "Muscle hypertrophy of the lower extremities", + "lateral structure", + "pelvic complex muscle", + "limb muscle", + "abnormal phenotype by ontology source", + "Abnormality of the musculature of the limbs", + "abnormal anatomical entity morphology in the appendage girdle complex", "abnormal anatomical entity", - "anatomical structure", - "organism substance", - "transferase complex, transferring phosphorus-containing groups", - "polypeptide", - "Abnormal circulating creatine kinase concentration", + "Abnormality of limbs", + "system", + "protein-containing material entity", + "multicellular organism", + "organ system subdivision", + "Abnormality of muscle size", + "abnormally increased volume of anatomical entity", + "anatomical entity", + "phenotype", + "Calf muscle hypertrophy", + "Abnormality of the calf musculature", + "increased size of the anatomical entity", + "Abnormality of the musculoskeletal system", "phenotype by ontology source", - "Abnormal circulating metabolite concentration", - "Abnormal circulating organic amino compound concentration", - "entity", - "process", - "independent continuant", - "nitrogen molecular entity", - "oxygen molecular entity", - "organochalcogen compound", - "All", - "Abnormality of circulating enzyme level", + "quality", + "abnormal limb", + "organism subdivision", + "organ", + "musculature of body", + "musculature", + "leg", + "limb segment", + "pelvic appendage musculature", + "musculature of limb", + "pelvic appendage muscle", + "hindlimb muscle", + "abnormal anatomical entity", + "pelvic complex", + "paired limb/fin segment", + "appendage musculature", + "musculature of pelvic complex", + "hypertrophic pelvic complex muscle", "Phenotypic abnormality", - "cellular_component", - "chemical entity", + "anatomical structure", + "appendage girdle complex", + "lower limb segment", + "zeugopod", + "musculature of lower limb", + "muscle of leg", + "abnormal muscle organ morphology", "material anatomical entity", - "protein-containing material entity", - "p-block molecular entity", - "hemolymphoid system", - "abnormal multicellular organism chemical entity level", - "specifically dependent continuant", + "abnormal size of anatomical entity", "entity", - "abnormal blood protein polypeptide chain level", - "abnormal blood chemical entity level", - "protein-containing complex", - "molecular entity", - "carbon group molecular entity", - "peptide", - "Abnormality of metabolism/homeostasis", - "biological_process", - "metabolic process", - "mesoderm-derived structure", - "bodily fluid", - "pnictogen molecular entity", - "chalcogen molecular entity", - "phenotype", - "continuant", - "abnormal hematopoietic system", - "anatomical entity", - "blood", - "hematopoietic system", - "haemolymphatic fluid" + "independent continuant", + "anatomical system", + "muscle structure", + "skeletal musculature" ], "object_taxon": null, "object_taxon_label": null, @@ -1213,7 +1101,7 @@ "has_total": 5, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0003236", + "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0008981", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", @@ -1272,150 +1160,268 @@ "has_percentage_sortable_float": [100.0] }, { - "id": "uuid:2e2c0c2a-25e0-11ef-abb5-e629eea977bb", + "id": "uuid:093061a4-38d8-11ef-8dc1-0579903a0a12", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0013178", - "original_subject": "OMIM:613205", + "subject": "MONDO:0011968", + "original_subject": "OMIM:608099", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", + "MONDO:0020121", + "MONDO:0004995", + "MONDO:0016140", "BFO:0000017", + "OGMS:0000031", + "MONDO:0005021", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0005071", - "MONDO:0700096", - "MONDO:0020121", - "BFO:0000001", - "MONDO:0019950", - "BFO:0000020", - "MONDO:0005336", - "MONDO:0100545", - "MONDO:0013178", - "MONDO:0002320", + "MONDO:0005267", + "MONDO:0011968", + "MONDO:0100546", + "MONDO:0004994", + "MONDO:0016333", + "MONDO:0000001", + "MONDO:0016106", + "MONDO:0000591", "BFO:0000002", + "MONDO:0005217", + "MONDO:0015152", + "MONDO:0000429", "BFO:0000016", - "MONDO:0000001", - "MONDO:0100546", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056" + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "MONDO:0006025", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0016141", + "MONDO:0003847", + "MONDO:0016971", + "MONDO:0100547", + "MONDO:0016139", + "MONDO:0700096", + "BFO:0000001" ], - "subject_label": "congenital muscular dystrophy due to LMNA mutation", + "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", "subject_closure_label": [ + "autosomal recessive limb-girdle muscular dystrophy type 2D", "hereditary neuromuscular disease", + "limb-girdle muscular dystrophy", + "disposition", "hereditary disease", + "nervous system disorder", + "heart disorder", + "continuant", "muscle tissue disorder", - "realizable entity", - "human disease", - "disease", - "disease", "muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "continuant", - "musculoskeletal system disorder", + "cardiovascular disorder", + "sarcoglycanopathy", + "familial cardiomyopathy", + "disease", + "dilated cardiomyopathy", + "cardiomyopathy", + "hereditary skeletal muscle disorder", + "intrinsic cardiomyopathy", + "autosomal recessive disease", "skeletal muscle disorder", "neuromuscular disease", - "hereditary skeletal muscle disorder", "specifically dependent continuant", - "congenital muscular dystrophy", + "progressive muscular dystrophy", + "autosomal recessive limb-girdle muscular dystrophy", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "qualitative or quantitative defects of alpha-sarcoglycan", + "realizable entity", + "familial dilated cardiomyopathy", + "autosomal genetic disease", + "cardiogenetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", "entity", - "nervous system disorder", - "disposition", - "congenital muscular dystrophy due to LMNA mutation", - "congenital nervous system disorder" + "myopathy" ], "subject_taxon": null, "subject_taxon_label": null, "predicate": "biolink:has_phenotype", - "object": "HP:0001252", + "object": "HP:0003236", "original_object": null, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0001001", - "HP:0003808", - "HP:0033127", - "BFO:0000040", - "UBERON:0005090", - "UBERON:0000468", - "UBERON:0011216", - "UPHENO:0002536", - "HP:0011804", - "UBERON:0010000", - "UBERON:0000467", - "UPHENO:0082555", - "HP:0003011", - "UPHENO:0002816", - "UBERON:0000061", + "UPHENO:0077821", + "CHEBI:33302", + "CHEBI:33304", + "BFO:0000002", + "PR:000050567", + "CHEBI:33582", + "CHEBI:16670", "HP:0000001", + "HP:0011021", "HP:0000118", "UPHENO:0001003", - "UPHENO:0001002", - "BFO:0000020", - "UBERON:0001062", - "UPHENO:0002320", - "UBERON:0000383", - "UBERON:0001015", - "UPHENO:0075696", + "UBERON:0000178", + "HP:0004364", + "HP:0010876", + "HP:0003236", + "GO:0008152", + "UBERON:0000467", + "CHEBI:33579", + "UPHENO:0051668", + "GO:0032991", + "CHEBI:23367", + "UBERON:0000468", + "UPHENO:0001001", + "UPHENO:0046284", "BFO:0000001", - "UBERON:0001630", + "HP:0001871", + "UPHENO:0002536", + "CHEBI:50860", + "HP:0430071", + "UPHENO:0004459", + "BFO:0000003", "BFO:0000002", - "UPHENO:0082557", + "UBERON:0002390", + "UBERON:0000179", + "GO:0002185", + "CHEBI:16541", + "UPHENO:0001002", + "UPHENO:0081547", + "UPHENO:0077826", + "HP:0032180", + "HP:0033405", + "UBERON:0001062", + "CHEBI:51143", + "CHEBI:25806", + "CHEBI:36962", + "UPHENO:0001005", + "BFO:0000020", + "CHEBI:35352", + "CHEBI:32988", + "CHEBI:36963", + "CHEBI:33285", + "UPHENO:0051763", + "UPHENO:0051804", + "GO:0008150", + "BFO:0000040", + "UBERON:0010000", + "CHEBI:33675", + "UBERON:0002193", + "UPHENO:0076289", + "HP:0001939", "BFO:0000001", + "BFO:0000015", "BFO:0000004", - "UPHENO:0082875", + "GO:1902494", + "CHEBI:36357", + "GO:0061695", + "CHEBI:15841", + "UPHENO:0076286", + "HP:0040081", "PATO:0000001", - "UBERON:0000062", - "UPHENO:0001005", - "UPHENO:0002332", - "HP:0001252", - "BFO:0000002", + "UPHENO:0051612", + "UBERON:0000061", + "UBERON:0000463", + "GO:1990234", + "CHEBI:33839", + "CHEBI:50047", + "CHEBI:37622", + "CHEBI:33256", + "UBERON:0004120", + "UBERON:0006314", + "UPHENO:0051801", + "GO:0005575", + "CHEBI:24431", "UBERON:0000465" ], - "object_label": "Hypotonia", + "object_label": "Elevated circulating creatine kinase concentration", "object_closure_label": [ - "multicellular organism", - "organ system subdivision", - "abnormality of muscle organ physiology", - "abnormal phenotype by ontology source", - "quality", + "entity", + "carbon group molecular entity", + "peptide", + "abnormal hematopoietic system", + "biological_process", "material entity", - "musculature of body", - "musculature", - "abnormality of anatomical entity physiology", - "Abnormal muscle physiology", - "muscle structure", - "continuant", "multicellular anatomical structure", - "anatomical system", - "abnormal anatomical entity", - "continuant", - "Abnormality of the musculature", - "abnormal musculature", - "abnormal anatomical entity", + "creatine kinase complex", + "protein polypeptide chain", + "p-block molecular entity", + "hemolymphoid system", + "abnormal chemical entity level", + "process", "independent continuant", - "anatomical structure", - "Phenotypic abnormality", - "Abnormality of the musculoskeletal system", - "entity", "All", + "Abnormality of circulating enzyme level", + "pnictogen molecular entity", + "chalcogen molecular entity", "Phenotypic abnormality", - "abnormality of anatomical entity physiology", - "Hypotonia", - "material anatomical entity", - "muscle organ", - "Abnormal muscle tone", - "specifically dependent continuant", - "phenotype by ontology source", - "decreased muscle organ tone", + "Abnormal circulating protein concentration", + "Elevated circulating creatine kinase concentration", + "metabolic process", + "mesoderm-derived structure", + "bodily fluid", + "abnormal role independent continuant level", + "abnormal blood chemical entity level", + "anatomical structure", + "organism substance", + "abnormal independent continuant chemical entity level", + "continuant", "entity", + "occurrent", + "continuant", + "hematopoietic system", + "haemolymphatic fluid", + "specifically dependent continuant", + "catalytic complex", + "polyatomic entity", + "organic molecular entity", + "abnormal phenotype by ontology source", + "abnormal anatomical entity", + "protein-containing material entity", + "multicellular organism", + "Abnormal circulating nitrogen compound concentration", + "Abnormality of blood and blood-forming tissues", + "anatomical entity", "phenotype", - "organ", - "decreased anatomical entity tone", - "anatomical entity" + "abnormal role blood level", + "Abnormal circulating creatine kinase concentration", + "quality", + "abnormal blood protein polypeptide chain level", + "blood", + "organonitrogen compound", + "amide", + "organooxygen compound", + "heteroorganic entity", + "abnormal independent continuant nitrogen molecular entity level", + "phenotype by ontology source", + "transferase complex, transferring phosphorus-containing groups", + "polypeptide", + "nitrogen molecular entity", + "oxygen molecular entity", + "organochalcogen compound", + "Abnormal circulating organic compound concentration", + "Phenotypic abnormality", + "abnormal independent continuant protein polypeptide chain level", + "protein-containing complex", + "molecular entity", + "transferase complex", + "macromolecule", + "carboxamide", + "organic amino compound", + "primary amide", + "abnormal role bodily fluid level", + "abnormal blood nitrogen molecular entity level", + "Abnormal circulating metabolite concentration", + "Abnormal circulating organic amino compound concentration", + "cellular_component", + "chemical entity", + "material anatomical entity", + "abnormal multicellular organism chemical entity level", + "Abnormality of metabolism/homeostasis", + "anatomical system", + "main group molecular entity" ], "object_taxon": null, "object_taxon_label": null, @@ -1433,25 +1439,25 @@ "url": "http://purl.obolibrary.org/obo/ECO_0000269" } ], - "has_count": 21, - "has_total": 21, + "has_count": 5, + "has_total": 5, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0013178||biolink:has_phenotype|HP:0001252", + "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0003236", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype" }, - "publications": ["PMID:15148145", "PMID:18551513"], + "publications": ["PMID:8069911", "PMID:8538707"], "publications_links": [ { - "id": "PMID:15148145", - "url": "http://identifiers.org/pubmed/15148145" + "id": "PMID:8069911", + "url": "http://identifiers.org/pubmed/8069911" }, { - "id": "PMID:18551513", - "url": "http://identifiers.org/pubmed/18551513" + "id": "PMID:8538707", + "url": "http://identifiers.org/pubmed/8538707" } ], "frequency_qualifier": null, diff --git a/frontend/fixtures/associations-compact.json b/frontend/fixtures/associations-compact.json index b423ae3fc..bf06e62cd 100644 --- a/frontend/fixtures/associations-compact.json +++ b/frontend/fixtures/associations-compact.json @@ -1,186 +1,186 @@ { "limit": 20, "offset": 0, - "total": 4944, + "total": 4965, "items": [ { - "category": "biolink:ChemicalToDiseaseOrPhenotypicFeatureAssociation", - "subject": "CHEBI:27881", - "subject_label": "resveratrol", - "predicate": "biolink:treats_or_applied_or_studied_to_treat", - "object": "MONDO:0010679", - "object_label": "Duchenne muscular dystrophy", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:26267", + "subject_label": "POMK", + "predicate": "biolink:causes", + "object": "MONDO:0014101", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", "negated": null }, { - "category": "biolink:ChemicalToDiseaseOrPhenotypicFeatureAssociation", - "subject": "CHEBI:15891", - "subject_label": "taurine", - "predicate": "biolink:treats_or_applied_or_studied_to_treat", - "object": "MONDO:0010679", - "object_label": "Duchenne muscular dystrophy", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:10805", + "subject_label": "SGCA", + "predicate": "biolink:causes", + "object": "MONDO:0011968", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", "negated": null }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:7264454", - "subject_label": "Large1m1Btlr/Large1m1Btlr [background:] C57BL/6J-Large1m1Btlr", - "predicate": "biolink:model_of", - "object": "MONDO:0013159", - "object_label": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:9069", + "subject_label": "PLEC", + "predicate": "biolink:causes", + "object": "MONDO:0009181", + "object_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", "negated": null }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:5565211", - "subject_label": "Col6a3tm2.1Chu/Col6a3+ [background:] B6.129(Cg)-Col6a3tm2.1Chu", - "predicate": "biolink:model_of", - "object": "MONDO:0000355", - "object_label": "Ullrich congenital muscular dystrophy", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:15710", + "subject_label": "LDB3", + "predicate": "biolink:causes", + "object": "MONDO:0012277", + "object_label": "myofibrillar myopathy 4", "negated": null }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:2661118", - "subject_label": "Dysftm1Kcam/Dysftm1Kcam [background:] involves: 129S1/Sv * 129X1/SvJ * C57BL/6", - "predicate": "biolink:model_of", - "object": "MONDO:0018949", - "object_label": "distal myopathy", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:6636", + "subject_label": "LMNA", + "predicate": "biolink:causes", + "object": "MONDO:0014676", + "object_label": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "negated": null }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:5779562", - "subject_label": "Tg(ACTA1-Ctss)1Jmol/? [background:] FVB/N-Tg(ACTA1-Ctss)1Jmol", - "predicate": "biolink:model_of", - "object": "MONDO:0010679", - "object_label": "Duchenne muscular dystrophy", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:15685", + "subject_label": "B4GAT1", + "predicate": "biolink:causes", + "object": "MONDO:0014120", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13", "negated": null }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:7278768", - "subject_label": "Sgcatm2Kcam/Sgcatm2Kcam [background:] B6.129S6-Sgcatm2Kcam/J", - "predicate": "biolink:model_of", - "object": "MONDO:0011968", - "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2666", + "subject_label": "DAG1", + "predicate": "biolink:causes", + "object": "MONDO:0014683", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9", "negated": null }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:5767290", - "subject_label": "Tg(Ckm-DNAJB6_ib*F93L)#Ccwe/0 [background:] B6.Cg-Tg(Ckm-DNAJB6_ib*F93L)#Ccwe", - "predicate": "biolink:model_of", - "object": "MONDO:0021018", - "object_label": "autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2188", + "subject_label": "COL12A1", + "predicate": "biolink:causes", + "object": "MONDO:0034022", + "object_label": "Bethlem myopathy 2", "negated": null }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:5688354", - "subject_label": "Dmdmdx/Dmdmdx [background:] D2.B10-Dmdmdx", - "predicate": "biolink:model_of", - "object": "MONDO:0010679", - "object_label": "Duchenne muscular dystrophy", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2188", + "subject_label": "COL12A1", + "predicate": "biolink:causes", + "object": "MONDO:0014654", + "object_label": "Ullrich congenital muscular dystrophy 2", "negated": null }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:5298009", - "subject_label": "Selenontm1.2Mred/Selenontm1.2Mred [background:] involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL", - "predicate": "biolink:model_of", - "object": "MONDO:0011271", - "object_label": "rigid spine muscular dystrophy 1", + "category": "biolink:Association", + "subject": "MONDO:0001347", + "subject_label": "facioscapulohumeral muscular dystrophy", + "predicate": "biolink:subclass_of", + "object": "MONDO:0016106", + "object_label": "progressive muscular dystrophy", "negated": null }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:5795669", - "subject_label": "Dmdmdx/Y Utrntm1Jrs/Utrn+ [background:] involves: 129S1/Sv * 129X1/SvJ * C57BL/10ScSn", - "predicate": "biolink:model_of", - "object": "MONDO:0010679", - "object_label": "Duchenne muscular dystrophy", + "category": "biolink:Association", + "subject": "MONDO:0001347", + "subject_label": "facioscapulohumeral muscular dystrophy", + "predicate": "biolink:subclass_of", + "object": "MONDO:0100137", + "object_label": "telomere syndrome", "negated": null }, { - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:3763920", - "subject_label": "Tg(HSA*LR)20aCath/? 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"grouping_key": "MGI:7264454||biolink:model_of|MONDO:0013159", - "provided_by": "alliance_disease_edges", + "grouping_key": "HGNC:9069||biolink:causes|MONDO:0009181", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease" + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease" }, "publications": [], "publications_links": [], @@ -535,79 +451,95 @@ "stage_qualifier_closure_label": [] }, { - "id": "903d8dcc-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:5565211", - "original_subject": null, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", + "id": "uuid:4dc18ac0-38d8-11ef-8dc1-0579903a0a12", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:15710", + "original_subject": "NCBIGene:11155", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "Col6a3tm2.1Chu/Col6a3+ [background:] B6.129(Cg)-Col6a3tm2.1Chu", + "subject_label": "LDB3", "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0000355", - "original_object": "DOID:0050558", + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0012277", + "original_object": "OMIM:609452", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", + "MONDO:0020121", + "MONDO:0018943", "MONDO:0019952", + "MONDO:0016190", "BFO:0000017", - "MONDO:0000355", - "MONDO:0005071", - "MONDO:0700096", - "MONDO:0020121", - "MONDO:0019950", - "BFO:0000020", - "MONDO:0005336", - "MONDO:0100545", - "BFO:0000001", - "MONDO:0002320", + "MONDO:0016186", "BFO:0000002", - "BFO:0000016", - "MONDO:0000001", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0005071", "MONDO:0100546", "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056" + "MONDO:0016108", + "MONDO:0000001", + "MONDO:0002921", + "MONDO:0000429", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "MONDO:0012277", + "MONDO:0000426", + "MONDO:0018949", + "BFO:0000020", + "MONDO:0002320", + "BFO:0000001", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0003847", + "MONDO:0016139", + "MONDO:0700096" ], - "object_label": "Ullrich congenital muscular dystrophy", + "object_label": "myofibrillar myopathy 4", "object_closure_label": [ + "qualitative or quantitative defects of myofibrillar proteins", "hereditary neuromuscular disease", + "disposition", "hereditary disease", + "nervous system disorder", "muscle tissue disorder", - "congenital myopathy", - "realizable entity", - "human disease", - "disease", - "disease", "muscular dystrophy", - "Ullrich congenital muscular dystrophy", - "myopathy", - "hereditary neurological disease", + "myofibrillar myopathy", + "autosomal dominant disease", + "hereditary skeletal muscle disorder", + "congenital structural myopathy", + "specifically dependent continuant", + "disease", + "distal myopathy", "continuant", - "entity", - "musculoskeletal system disorder", "skeletal muscle disorder", "neuromuscular disease", - "hereditary skeletal muscle disorder", - "specifically dependent continuant", - "congenital muscular dystrophy", - "nervous system disorder", - "disposition", - "congenital nervous system disorder" + "congenital nervous system disorder", + "entity", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital myopathy", + "qualitative or quantitative defects of protein ZASP", + "realizable entity", + "autosomal dominant distal myopathy", + "autosomal genetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "myopathy", + "myofibrillar myopathy 4" ], "object_taxon": null, "object_taxon_label": null, - "primary_knowledge_source": "infores:mgi", + "primary_knowledge_source": "infores:omim", "aggregator_knowledge_source": [ "infores:monarchinitiative", - "infores:agrkb" + "infores:medgen" ], "negated": null, "pathway": null, @@ -620,11 +552,11 @@ "has_total": null, "has_percentage": null, "has_quotient": null, - "grouping_key": "MGI:5565211||biolink:model_of|MONDO:0000355", - "provided_by": "alliance_disease_edges", + "grouping_key": "HGNC:15710||biolink:causes|MONDO:0012277", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease" + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease" }, "publications": [], "publications_links": [], @@ -666,73 +598,95 @@ "stage_qualifier_closure_label": [] }, { - "id": "903d8dd1-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:2661118", - "original_subject": null, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", + "id": "uuid:4dc18b2b-38d8-11ef-8dc1-0579903a0a12", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:6636", + "original_subject": "NCBIGene:4000", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "Dysftm1Kcam/Dysftm1Kcam [background:] involves: 129S1/Sv * 129X1/SvJ * C57BL/6", + "subject_label": "LMNA", "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0018949", - "original_object": "DOID:11720", + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0014676", + "original_object": "OMIM:616516", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", - "BFO:0000017", - "MONDO:0005071", - "MONDO:0700096", "MONDO:0020121", + "MONDO:0004995", + "BFO:0000017", + "MONDO:0005021", + "MONDO:0020120", + "MONDO:0019056", "BFO:0000001", - "BFO:0000020", - "MONDO:0005336", - "MONDO:0100545", - "BFO:0000002", - "BFO:0000016", - "MONDO:0000001", + "MONDO:0005071", + "MONDO:0005267", "MONDO:0100546", "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056", - "MONDO:0018949" + "MONDO:0004994", + "BFO:0000002", + "MONDO:0016333", + "MONDO:0000001", + "MONDO:0016106", + "MONDO:0000591", + "MONDO:0014676", + "MONDO:0005217", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "MONDO:0016830", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0021106", + "MONDO:0003847", + "MONDO:0100547", + "MONDO:0700096" ], - "object_label": "distal myopathy", + "object_label": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "object_closure_label": [ "hereditary neuromuscular disease", + "disposition", + "laminopathy", "hereditary disease", + "nervous system disorder", + "heart disorder", "muscle tissue disorder", - "realizable entity", - "human disease", - "disease", - "disease", "muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "continuant", - "musculoskeletal system disorder", + "cardiovascular disorder", + "familial cardiomyopathy", + "dilated cardiomyopathy", + "cardiomyopathy", + "Emery-Dreifuss muscular dystrophy", + "hereditary skeletal muscle disorder", + "intrinsic cardiomyopathy", + "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", + "disease", "skeletal muscle disorder", "neuromuscular disease", - "hereditary skeletal muscle disorder", "specifically dependent continuant", - "entity", - "distal myopathy", - "nervous system disorder", - "disposition" + "progressive muscular dystrophy", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "realizable entity", + "familial dilated cardiomyopathy", + "continuant", + "cardiogenetic disease", + "human disease", + "myopathy", + "entity" ], "object_taxon": null, "object_taxon_label": null, - "primary_knowledge_source": "infores:mgi", + "primary_knowledge_source": "infores:omim", "aggregator_knowledge_source": [ "infores:monarchinitiative", - "infores:agrkb" + "infores:medgen" ], "negated": null, "pathway": null, @@ -745,11 +699,11 @@ "has_total": null, "has_percentage": null, "has_quotient": null, - "grouping_key": "MGI:2661118||biolink:model_of|MONDO:0018949", - "provided_by": "alliance_disease_edges", + "grouping_key": "HGNC:6636||biolink:causes|MONDO:0014676", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease" + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease" }, "publications": [], "publications_links": [], @@ -791,73 +745,81 @@ "stage_qualifier_closure_label": [] }, { - "id": "903d8e37-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:5779562", - "original_subject": null, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", + "id": "uuid:4dc18a2f-38d8-11ef-8dc1-0579903a0a12", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:15685", + "original_subject": "NCBIGene:11041", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "Tg(ACTA1-Ctss)1Jmol/? [background:] FVB/N-Tg(ACTA1-Ctss)1Jmol", + "subject_label": "B4GAT1", "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0010679", - "original_object": "DOID:11723", + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0014120", + "original_object": "OMIM:615287", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", + "MONDO:0020121", "BFO:0000017", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0005071", - "MONDO:0700096", - "MONDO:0020121", - "BFO:0000001", - "MONDO:0005336", - "MONDO:0100545", - "BFO:0000020", - "BFO:0000002", - "BFO:0000016", - "MONDO:0000001", - "MONDO:0010679", "MONDO:0100546", "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056" + "MONDO:0000001", + "BFO:0000002", + "MONDO:0014120", + "MONDO:0018276", + "MONDO:0000171", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "MONDO:0002320", + "BFO:0000001", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0019950", + "MONDO:0003847", + "MONDO:0700096" ], - "object_label": "Duchenne muscular dystrophy", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13", "object_closure_label": [ "hereditary neuromuscular disease", + "disposition", "hereditary disease", + "nervous system disorder", + "continuant", "muscle tissue disorder", - "realizable entity", - "human disease", - "disease", - "disease", - "Duchenne muscular dystrophy", "muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "continuant", - "musculoskeletal system disorder", - "specifically dependent continuant", + "hereditary skeletal muscle disorder", + "disease", "skeletal muscle disorder", "neuromuscular disease", - "hereditary skeletal muscle disorder", + "congenital nervous system disorder", "entity", - "nervous system disorder", - "disposition" + "muscular dystrophy-dystroglycanopathy", + "specifically dependent continuant", + "disease", + "muscular dystrophy-dystroglycanopathy, type A", + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital muscular dystrophy", + "realizable entity", + "human disease", + "myopathy" ], "object_taxon": null, "object_taxon_label": null, - "primary_knowledge_source": "infores:mgi", + "primary_knowledge_source": "infores:omim", "aggregator_knowledge_source": [ "infores:monarchinitiative", - "infores:agrkb" + "infores:medgen" ], "negated": null, "pathway": null, @@ -870,11 +832,11 @@ "has_total": null, "has_percentage": null, "has_quotient": null, - "grouping_key": "MGI:5779562||biolink:model_of|MONDO:0010679", - "provided_by": "alliance_disease_edges", + "grouping_key": "HGNC:15685||biolink:causes|MONDO:0014120", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease" + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease" }, "publications": [], "publications_links": [], @@ -916,105 +878,81 @@ "stage_qualifier_closure_label": [] }, { - "id": "903d8e71-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:7278768", - "original_subject": null, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", + "id": "uuid:4dc18b47-38d8-11ef-8dc1-0579903a0a12", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2666", + "original_subject": "NCBIGene:1605", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "Sgcatm2Kcam/Sgcatm2Kcam [background:] B6.129S6-Sgcatm2Kcam/J", + "subject_label": "DAG1", "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0011968", - "original_object": "DOID:0110278", + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0014683", + "original_object": "OMIM:616538", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0004995", - "MONDO:0016140", - "MONDO:0700223", - "MONDO:0016106", - "MONDO:0002081", - "MONDO:0016141", - "MONDO:0003847", - "MONDO:0003939", - "BFO:0000017", - "MONDO:0005071", - "MONDO:0005267", - "MONDO:0005217", - "MONDO:0700096", - "MONDO:0000591", - "MONDO:0004994", "MONDO:0020121", - "MONDO:0016333", - "MONDO:0000429", - "MONDO:0016971", - "MONDO:0006025", - "MONDO:0005336", - "MONDO:0100545", - "MONDO:0005021", + "BFO:0000017", + "OGMS:0000031", + "MONDO:0020120", + "MONDO:0014683", + "MONDO:0019056", "BFO:0000001", - "BFO:0000020", - "MONDO:0015152", - "BFO:0000002", - "BFO:0000016", + "MONDO:0005071", + "MONDO:0100546", "MONDO:0000001", - "MONDO:0011968", - "MONDO:0100546", - "MONDO:0100547", - "MONDO:0016139", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056" + "BFO:0000002", + "MONDO:0018276", + "MONDO:0000171", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "MONDO:0002320", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0019950", + "MONDO:0003847", + "MONDO:0700096" ], - "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9", "object_closure_label": [ - "autosomal recessive limb-girdle muscular dystrophy type 2D", "hereditary neuromuscular disease", - "cardiogenetic disease", - "qualitative or quantitative protein defects in neuromuscular diseases", + "disposition", "hereditary disease", + "nervous system disorder", + "continuant", "muscle tissue disorder", - "limb-girdle muscular dystrophy", - "realizable entity", - "human disease", - "intrinsic cardiomyopathy", - "disease", - "disease", "muscular dystrophy", - "autosomal genetic disease", - "progressive muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "continuant", - "familial cardiomyopathy", - "entity", - "musculoskeletal system disorder", - "qualitative or quantitative defects of alpha-sarcoglycan", - "cardiomyopathy", + "disease", + "hereditary skeletal muscle disorder", "specifically dependent continuant", "skeletal muscle disorder", + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9", "neuromuscular disease", - "cardiovascular disorder", - "sarcoglycanopathy", - "hereditary skeletal muscle disorder", - "familial dilated cardiomyopathy", - "dilated cardiomyopathy", - "autosomal recessive disease", - "nervous system disorder", - "heart disorder", - "disposition", - "autosomal recessive limb-girdle muscular dystrophy" + "congenital nervous system disorder", + "muscular dystrophy-dystroglycanopathy", + "disease", + "muscular dystrophy-dystroglycanopathy, type A", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital muscular dystrophy", + "realizable entity", + "human disease", + "myopathy", + "entity" ], "object_taxon": null, "object_taxon_label": null, - "primary_knowledge_source": "infores:mgi", + "primary_knowledge_source": "infores:omim", "aggregator_knowledge_source": [ "infores:monarchinitiative", - "infores:agrkb" + "infores:medgen" ], "negated": null, "pathway": null, @@ -1027,11 +965,11 @@ "has_total": null, "has_percentage": null, "has_quotient": null, - "grouping_key": "MGI:7278768||biolink:model_of|MONDO:0011968", - "provided_by": "alliance_disease_edges", + "grouping_key": "HGNC:2666||biolink:causes|MONDO:0014683", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease" + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease" }, "publications": [], "publications_links": [], @@ -1073,83 +1011,91 @@ "stage_qualifier_closure_label": [] }, { - "id": "903d8eba-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:5767290", - "original_subject": null, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", + "id": "uuid:4dc18b98-38d8-11ef-8dc1-0579903a0a12", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2188", + "original_subject": "NCBIGene:1303", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "Tg(Ckm-DNAJB6_ib*F93L)#Ccwe/0 [background:] B6.Cg-Tg(Ckm-DNAJB6_ib*F93L)#Ccwe", + "subject_label": "COL12A1", "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0021018", - "original_object": "DOID:0110305", + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0034022", + "original_object": "OMIM:616471", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0700223", - "MONDO:0016106", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", + "MONDO:0020121", + "MONDO:0019952", "BFO:0000017", - "MONDO:0021018", + "OGMS:0000031", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0005071", - "MONDO:0700096", - "MONDO:0020121", - "BFO:0000001", - "MONDO:0000429", - "BFO:0000020", - "MONDO:0000426", - "MONDO:0016971", - "MONDO:0005336", - "MONDO:0100545", + "MONDO:0100546", + "MONDO:0008029", + "MONDO:0002254", + "MONDO:0000001", + "MONDO:0016106", "BFO:0000002", + "MONDO:0019755", + "MONDO:0034022", + "MONDO:0020066", "BFO:0000016", - "MONDO:0000001", - "MONDO:0100546", - "MONDO:0015151", - "OGMS:0000031", - "MONDO:0020120", - "MONDO:0019056" + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "MONDO:0021147", + "MONDO:0002320", + "BFO:0000001", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0019950", + "MONDO:0003847", + "MONDO:0700096" ], - "object_label": "autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)", + "object_label": "Bethlem myopathy 2", "object_closure_label": [ - "autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)", "hereditary neuromuscular disease", - "muscular dystrophy, limb-girdle, autosomal dominant", + "developmental defect during embryogenesis", + "disposition", "hereditary disease", + "nervous system disorder", + "continuant", "muscle tissue disorder", - "limb-girdle muscular dystrophy", - "realizable entity", - "human disease", - "disease", - "disease", "muscular dystrophy", - "autosomal dominant disease", - "autosomal genetic disease", - "progressive muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "continuant", - "musculoskeletal system disorder", + "disease", + "Bethlem myopathy", + "disorder of development or morphogenesis", + "hereditary skeletal muscle disorder", "skeletal muscle disorder", "neuromuscular disease", - "hereditary skeletal muscle disorder", - "specifically dependent continuant", + "congenital nervous system disorder", "entity", - "nervous system disorder", - "disposition" + "Bethlem myopathy 2", + "specifically dependent continuant", + "progressive muscular dystrophy", + "Ehlers-Danlos syndrome", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital muscular dystrophy", + "congenital myopathy", + "realizable entity", + "syndromic disease", + "human disease", + "myopathy" ], "object_taxon": null, "object_taxon_label": null, - "primary_knowledge_source": "infores:mgi", + "primary_knowledge_source": "infores:omim", "aggregator_knowledge_source": [ "infores:monarchinitiative", - "infores:agrkb" + "infores:medgen" ], "negated": null, "pathway": null, @@ -1162,11 +1108,11 @@ "has_total": null, "has_percentage": null, "has_quotient": null, - "grouping_key": "MGI:5767290||biolink:model_of|MONDO:0021018", - "provided_by": "alliance_disease_edges", + "grouping_key": "HGNC:2188||biolink:causes|MONDO:0034022", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease" + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease" }, "publications": [], "publications_links": [], @@ -1208,73 +1154,81 @@ "stage_qualifier_closure_label": [] }, { - "id": "903d8ed7-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:5688354", - "original_subject": null, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", + "id": "uuid:4dc18b99-38d8-11ef-8dc1-0579903a0a12", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2188", + "original_subject": "NCBIGene:1303", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "Dmdmdx/Dmdmdx [background:] D2.B10-Dmdmdx", + "subject_label": "COL12A1", "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0010679", - "original_object": "DOID:11723", + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0014654", + "original_object": "OMIM:616470", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", + "MONDO:0020121", + "MONDO:0019952", "BFO:0000017", + "OGMS:0000031", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0005071", - "MONDO:0700096", - "MONDO:0020121", - "BFO:0000001", - "MONDO:0005336", - "MONDO:0100545", - "BFO:0000020", + "MONDO:0100546", + "MONDO:0000001", "BFO:0000002", "BFO:0000016", - "MONDO:0000001", - "MONDO:0010679", - "MONDO:0100546", - 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"nervous system disorder", - "disposition" + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital muscular dystrophy", + "congenital myopathy", + "realizable entity", + "human disease", + "Ullrich congenital muscular dystrophy", + "myopathy" ], "object_taxon": null, "object_taxon_label": null, - "primary_knowledge_source": "infores:mgi", + "primary_knowledge_source": "infores:omim", "aggregator_knowledge_source": [ "infores:monarchinitiative", - "infores:agrkb" + "infores:medgen" ], "negated": null, "pathway": null, @@ -1287,11 +1241,11 @@ "has_total": null, "has_percentage": null, "has_quotient": null, - "grouping_key": "MGI:5688354||biolink:model_of|MONDO:0010679", - "provided_by": "alliance_disease_edges", + "grouping_key": "HGNC:2188||biolink:causes|MONDO:0014654", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease" + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease" }, "publications": [], "publications_links": [], @@ -1333,110 +1287,138 @@ "stage_qualifier_closure_label": [] }, { - "id": "903d8ef3-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:5298009", + "id": "urn:uuid:b9924b51-6ea7-4d7c-81ed-c84aa27260aa", + "category": "biolink:Association", + "subject": "MONDO:0001347", "original_subject": null, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", - "subject_closure": [], - "subject_label": "Selenontm1.2Mred/Selenontm1.2Mred [background:] involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0011271", - "original_object": "DOID:0110633", - "object_namespace": "MONDO", - "object_category": "biolink:Disease", - "object_closure": [ - "MONDO:0018948", - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0016187", - "MONDO:0100100", - "MONDO:0003939", - "MONDO:0019952", + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ + "MONDO:0020121", "BFO:0000017", + "OGMS:0000031", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0005071", - 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"infores:monarchinitiative", - "infores:agrkb" - ], + "progressive muscular dystrophy", + "facioscapulohumeral muscular dystrophy", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "realizable entity", + "human disease", + "myopathy", + "premature aging syndrome" + ], + "subject_taxon": null, + "subject_taxon_label": null, + "predicate": "biolink:subclass_of", + "object": "MONDO:0016106", + "original_object": null, + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ + "MONDO:0020121", + "BFO:0000017", + "BFO:0000002", + "MONDO:0020120", + "MONDO:0019056", + "MONDO:0005071", + "MONDO:0100546", + "OGMS:0000031", + "MONDO:0000001", + "MONDO:0016106", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "BFO:0000001", + "MONDO:0100545", + "MONDO:0002081", + "MONDO:0003847", + "MONDO:0700096" + ], + "object_label": "progressive muscular dystrophy", + "object_closure_label": [ + "hereditary neuromuscular disease", + "disposition", + "hereditary disease", + "nervous system disorder", + "muscle tissue disorder", + "muscular dystrophy", + "hereditary skeletal muscle disorder", + "disease", + "continuant", + "skeletal muscle disorder", + "neuromuscular disease", + "entity", + "specifically dependent continuant", + "progressive muscular dystrophy", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "realizable entity", + "human disease", + "myopathy" + ], + "object_taxon": null, + "object_taxon_label": null, + "primary_knowledge_source": "infores:mondo", + "aggregator_knowledge_source": [ + "infores:monarchinitiative", + "infores:phenio" + ], "negated": null, "pathway": null, "evidence_count": 0, - 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"subject_namespace": "MGI", - "subject_category": "biolink:Genotype", - "subject_closure": [], - "subject_label": "Dmdmdx/Y Utrntm1Jrs/Utrn+ [background:] involves: 129S1/Sv * 129X1/SvJ * C57BL/10ScSn", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0010679", - "original_object": "DOID:11723", - "object_namespace": "MONDO", - "object_category": "biolink:Disease", - "object_closure": [ - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ + "MONDO:0020121", "BFO:0000017", + "OGMS:0000031", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0005071", - "MONDO:0700096", - "MONDO:0020121", - "BFO:0000001", - "MONDO:0005336", - "MONDO:0100545", - "BFO:0000020", + "MONDO:0100137", + "MONDO:0100546", + "MONDO:0000001", + "MONDO:0016106", "BFO:0000002", "BFO:0000016", - 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"id": "903d9050-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:3763920", + "id": "urn:uuid:ee30e06f-959f-4f3b-a360-f751f23d04e5", + "category": "biolink:Association", + "subject": "MONDO:0009181", "original_subject": null, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", - "subject_closure": [], - "subject_label": "Tg(HSA*LR)20aCath/? 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"MONDO:0700096", + "BFO:0000001" ], - "object_label": "Duchenne muscular dystrophy", - "object_closure_label": [ + "subject_label": "congenital myopathy 7A, myosin storage, autosomal dominant", + "subject_closure_label": [ "hereditary neuromuscular disease", + "congenital myopathy 7A, myosin storage, autosomal dominant", + "disposition", "hereditary disease", + "nervous system disorder", + "heart disorder", + "continuant", "muscle tissue disorder", - "realizable entity", - "human disease", - "disease", - "disease", - "Duchenne muscular dystrophy", "muscular dystrophy", - "myopathy", - "hereditary neurological disease", - "continuant", - "musculoskeletal system disorder", + "cardiovascular disorder", + "familial cardiomyopathy", + "disease", + "dilated cardiomyopathy", + "cardiomyopathy", + "Emery-Dreifuss muscular dystrophy", + "hereditary skeletal muscle disorder", + "intrinsic cardiomyopathy", "specifically dependent continuant", "skeletal muscle disorder", "neuromuscular disease", - "hereditary skeletal muscle disorder", + "congenital nervous system disorder", + "scapuloperoneal myopathy", + "progressive muscular dystrophy", + "disease", + "hereditary neurological disease", + "musculoskeletal system disorder", + "congenital myopathy", + "realizable entity", + "familial dilated cardiomyopathy", + "cardiogenetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", "entity", + "myopathy", + "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)" + ], + "subject_taxon": null, + "subject_taxon_label": null, + "predicate": "biolink:subclass_of", + "object": "MONDO:0016195", + "original_object": null, + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ + "BFO:0000017", + "OGMS:0000031", + "BFO:0000001", + "MONDO:0005071", + "MONDO:0000001", + "BFO:0000002", + "BFO:0000016", + "BFO:0000020", + "MONDO:0100545", + "MONDO:0016195", + "MONDO:0003847", + "MONDO:0016139", + "MONDO:0700096" + ], + "object_label": "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)", + "object_closure_label": [ + "disposition", + "hereditary disease", "nervous system disorder", - "disposition" + "continuant", + "disease", + "specifically dependent continuant", + "disease", + "hereditary neurological disease", + "realizable entity", + "qualitative or quantitative protein defects in neuromuscular diseases", + "human disease", + "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)", + "entity" ], "object_taxon": null, "object_taxon_label": null, - "primary_knowledge_source": "infores:mgi", + "primary_knowledge_source": "infores:mondo", "aggregator_knowledge_source": [ "infores:monarchinitiative", - "infores:agrkb" + "infores:phenio" ], "negated": null, "pathway": null, "evidence_count": 0, - "knowledge_level": "knowledge_assertion", - "agent_type": "manual_agent", + "knowledge_level": "not_provided", + "agent_type": "not_provided", "has_evidence": [], "has_evidence_links": [], "has_count": null, "has_total": null, "has_percentage": null, "has_quotient": null, - "grouping_key": "MGI:4936865||biolink:model_of|MONDO:0010679", - "provided_by": "alliance_disease_edges", + "grouping_key": "MONDO:0008409||biolink:subclass_of|MONDO:0016195", + "provided_by": "phenio_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease" + "id": "phenio", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#" }, "publications": [], "publications_links": [], @@ -2685,96 +3217,152 @@ "stage_qualifier_closure_label": [] }, { - "id": "90492fad-26a1-11ef-b56c-bd1693b88861", - "category": "biolink:GenotypeToDiseaseAssociation", - "subject": "MGI:3832643", + "id": "urn:uuid:45eda7c7-f0d0-441b-9fb4-e09cb00fba8b", + "category": "biolink:Association", + "subject": "MONDO:0008409", "original_subject": null, - "subject_namespace": "MGI", - "subject_category": "biolink:Genotype", - "subject_closure": [], - "subject_label": "Pomgnt1tm1Stk/Pomgnt1tm1Stk [background:] involves: 129S/SvEv", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:10090", - "subject_taxon_label": "Mus musculus", - "predicate": "biolink:model_of", - "object": "MONDO:0000171", - "original_object": "DOID:0050560", - "object_namespace": "MONDO", - "object_category": "biolink:Disease", - "object_closure": [ - "MONDO:0700223", - "MONDO:0002081", - "MONDO:0003847", - "MONDO:0003939", - "MONDO:0000171", + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ + "MONDO:0020121", + "MONDO:0004995", + "MONDO:0019952", "BFO:0000017", + "OGMS:0000031", + "MONDO:0005021", + "MONDO:0020120", + "MONDO:0019056", "MONDO:0005071", + "MONDO:0005267", + "MONDO:0100546", + "MONDO:0004994", + "MONDO:0016333", + "MONDO:0000001", + "MONDO:0000727", + "MONDO:0016106", + "MONDO:0000591", "BFO:0000002", - 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quantitative protein defects in neuromuscular diseases", + "human disease", "entity", - "nervous system disorder", - "continuant", + "myopathy", + "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)" + ], + "subject_taxon": null, + "subject_taxon_label": null, + "predicate": "biolink:subclass_of", + "object": "MONDO:0019952", + "original_object": null, + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ + "MONDO:0019952", + "BFO:0000017", + "OGMS:0000031", + "BFO:0000002", + "MONDO:0020120", + "BFO:0000001", + "MONDO:0000001", + "BFO:0000016", + "MONDO:0003939", + "MONDO:0700223", + "MONDO:0005336", + "BFO:0000020", + "MONDO:0002081", + "MONDO:0003847", + "MONDO:0700096" + ], + "object_label": "congenital myopathy", + "object_closure_label": [ "disposition", - "congenital nervous system disorder" + "hereditary disease", + "muscle tissue disorder", + "disease", + "hereditary skeletal muscle disorder", + "continuant", + "skeletal muscle disorder", + "specifically dependent continuant", + "disease", + "musculoskeletal system disorder", + "congenital myopathy", + "realizable entity", + "human disease", + "myopathy", + "entity" ], "object_taxon": null, "object_taxon_label": null, - "primary_knowledge_source": "infores:mgi", + "primary_knowledge_source": "infores:mondo", "aggregator_knowledge_source": [ "infores:monarchinitiative", - "infores:agrkb" + "infores:phenio" ], "negated": null, "pathway": null, "evidence_count": 0, - "knowledge_level": "knowledge_assertion", - "agent_type": "manual_agent", + "knowledge_level": "not_provided", + "agent_type": "not_provided", "has_evidence": [], "has_evidence_links": [], "has_count": null, "has_total": null, "has_percentage": null, "has_quotient": null, - "grouping_key": "MGI:3832643||biolink:model_of|MONDO:0000171", - "provided_by": "alliance_disease_edges", + "grouping_key": "MONDO:0008409||biolink:subclass_of|MONDO:0019952", + "provided_by": "phenio_edges", "provided_by_link": { - "id": "alliance_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/alliance/#disease" + "id": "phenio", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#" }, "publications": [], "publications_links": [], diff --git a/frontend/fixtures/autocomplete.json b/frontend/fixtures/autocomplete.json index c1243ef34..64c4c5184 100644 --- a/frontend/fixtures/autocomplete.json +++ b/frontend/fixtures/autocomplete.json @@ -1,7 +1,7 @@ { "limit": 10, "offset": 0, - "total": 319, + "total": 320, "items": [ { "id": "MONDO:0009215", @@ -44,16 +44,14 @@ "iri": null, "namespace": "MONDO", "has_phenotype": [ + "HP:0000086", "HP:0001875", + "HP:0009777", "HP:0001249", - "HP:0000086", - "HP:0001000", "HP:0000252", - "HP:0000081", - "HP:0003214", - "HP:0003251", + "HP:0001627", + "HP:0000957", "HP:0000815", - "HP:0009777", "HP:0001017", "HP:0000104", "HP:0003974", @@ -65,31 +63,31 @@ "HP:0000568", "HP:0001518", "HP:0003221", + "HP:0001000", "HP:0009943", - "HP:0001627", "HP:0000978", "HP:0030680", "HP:0001903", - "HP:0000957", "HP:0001909", "HP:0012210", + "HP:0000081", "HP:0000085", "HP:0004322", "HP:0000486", "HP:0000365", - "HP:0003213" + "HP:0003214", + "HP:0003213", + "HP:0003251" ], "has_phenotype_label": [ + "Ectopic kidney", "Neutropenia", + "Absent thumb", "Intellectual disability", - "Ectopic kidney", - "Abnormality of skin pigmentation", "Microcephaly", - "Duplicated collecting system", - "Prolonged G2 phase of cell cycle", - "Male infertility", + "Abnormal heart morphology", + "Cafe-au-lait spot", "Hypergonadotropic hypogonadism", - "Absent thumb", "Anemic pallor", "Renal agenesis", "Absent radius", @@ -101,1589 +99,1591 @@ "Microphthalmia", "Small for gestational age", "Chromosomal breakage induced by crosslinking agents", + "Abnormality of skin pigmentation", "Complete duplication of thumb phalanx", - "Abnormal heart morphology", "Bruising susceptibility", "Abnormality of cardiovascular system morphology", "Anemia", - "Cafe-au-lait spot", "Leukemia", "Abnormal renal morphology", + "Duplicated collecting system", "Horseshoe kidney", "Short stature", "Strabismus", "Hearing impairment", - "Deficient excision of UV-induced pyrimidine dimers in DNA" + "Prolonged G2 phase of cell cycle", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "Male infertility" ], "has_phenotype_closure": [ "HP:0003254", + "HP:0003213", + "UPHENO:0049964", + "UPHENO:0051124", "GO:0051716", - "UPHENO:0049671", - "GO:0006974", + "GO:0006950", + "GO:0051319", + "GO:0007049", + "GO:0050954", + "HP:0000598", + "GO:0007605", + "UPHENO:0050625", "HP:0000364", + "UPHENO:0005518", "UPHENO:0052970", "UBERON:0002105", - "UPHENO:0005518", - "UPHENO:0002240", - "UBERON:0000015", + "NBO:0000338", "UPHENO:0049586", - "HP:0000496", + "HP:0000708", + "UPHENO:0049622", + "GO:0007610", + "HP:0000486", + "UBERON:0006800", "BFO:0000141", - "NBO:0000001", - "NBO:0000338", + "HP:0000549", + "HP:0000496", + 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+ "CL:0000408", + "GO:0007283", + "UPHENO:0075220", + "UPHENO:0087907", "HP:0006501", - "UBERON:0015203", - "UPHENO:0076723", - "UBERON:0005156", - "UPHENO:0085195", - "CL:0000000", - "HP:0011354", - "UPHENO:0087846", - "UBERON:0001434", - "UPHENO:0002536", - "UBERON:0007100", - "UPHENO:0085330", - "UPHENO:0085344", - "UBERON:0002389", - "GO:0009892", - "UPHENO:0088335", - "UPHENO:0086201", - "UBERON:0002513", - "GO:0050896", + "BFO:0000020", + "UBERON:0012354", + "UPHENO:0081566", + "NCBITaxon:1", + "HP:0000252", + "HP:0000234", + "UPHENO:0085873", + "UPHENO:0086589", + "UPHENO:0076791", + "UBERON:5102544", + "UPHENO:0080377", + "UBERON:0011137", + "UBERON:0000489", + "UBERON:0010323", + "UBERON:0002090", + "GO:0048232", + "UBERON:0001017", + "UBERON:0001032", + "UPHENO:0026181", + "UPHENO:0002964", + "HP:0012443", + "UBERON:0002616", + "UPHENO:0054970", + "UBERON:0015025", + "HP:0002011", + "UPHENO:0046707", + "UPHENO:0074575", + "UPHENO:0080200", + "UBERON:0001890", + "NCBITaxon:33154", + "UBERON:0001893", + "UBERON:0000033", + "HP:0040012", + "UBERON:0010707", + "UPHENO:0022529", + "HP:0000032", "UBERON:0000475", - "UBERON:0000467", - "UBERON:0015204", - "UPHENO:0024906", - "HP:0002818", - "HP:0012759", - "UBERON:0006048", - "GO:0008152", + "UPHENO:0076702", + "UBERON:0007811", + "UPHENO:0088338", + "UPHENO:0050101", + "UPHENO:0075195", + "HP:0009121", + "UPHENO:0080362", + "BFO:0000001", + "UPHENO:0002635", + "HP:0001626", + "UBERON:0001009", + "UBERON:0000948", + "UPHENO:0005016", + "UBERON:0007100", + "NCBITaxon:6072", + "UPHENO:0076776", + "UBERON:0000915", + "UBERON:0005181", + "HP:0030680", + "UPHENO:0080221", + "HP:0001034", + "HP:0004275", + "UBERON:0010314", + "HP:0001873", + "UPHENO:0080662", + "UBERON:0002417", + "UPHENO:0074572", "UPHENO:0082682", - "UPHENO:0005433", - "BFO:0000002", - "UBERON:0000073", - "HP:0003221", - "BFO:0000004", - "UPHENO:0085068", - "BFO:0000040", - "CL:0000081", - "UBERON:0019231", - "GO:0031323", - "UPHENO:0086002", - "UBERON:0011249", - "UPHENO:0085076", - "UPHENO:0080099", - "UPHENO:0087089", - "HP:0000032", - "UBERON:0004288", - "UBERON:0012354", - "UPHENO:0088162", - "UPHENO:0005597", - "UPHENO:0002378", - "UPHENO:0082875", - "UPHENO:0031839", + "HP:0033127", + "HP:0007400", "UBERON:0002416", + "UBERON:0002102", + "UPHENO:0003811", + "UBERON:0000481", + "HP:0000957", + "HP:0009823", + "HP:0011121", + "HP:0000002", + "UPHENO:0076740", + "HP:0000953", "HP:0000789", - "UBERON:0000465", - "HP:0003220", - "UBERON:0000026", - "UBERON:0000463", - "CL:0000225", - "UPHENO:0001003" - ], - "has_phenotype_closure_label": [ - "abnormal DNA damage response", - "DNA damage response", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "cellular response to stimulus", - "Abnormality of DNA repair", - "decreased sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "Abnormal ear physiology", - "Abnormality of the ear", - "abnormality of ear physiology", - "abnormal DNA repair", + "UBERON:0004710", + "UPHENO:0088162", + "UPHENO:0074589", + "GO:0050794", + "UPHENO:0085875", + "UBERON:0003460", + "HP:0012733", + "UPHENO:0026023", + "HP:0001574", + "HP:0003251", + "RO:0002577", + "HP:0000951", + "UPHENO:0085076", + "GO:0043473", + "HP:0011028", + "UBERON:0010712", + "HP:0000080", + "UPHENO:0003055", + "UBERON:0005156", + "UPHENO:0080126", + "UBERON:0015204", + "UPHENO:0003020", + "UBERON:0005944", + "UBERON:0000991", + "HP:0001903", + "UPHENO:0004459", + "UPHENO:0003116", + "UPHENO:0066972", + "HP:0000818", + "UBERON:0000990", + "HP:0008373", + "HP:0000118", + "HP:0001876", + "UPHENO:0024906", + "HP:0000078", + "CL:0000232", + "UBERON:0004375", + "HP:0011873", + "UPHENO:0054261", + "NCBITaxon:131567", + "HP:0001017", + "UPHENO:0087089", + "CL:0000764", + "UBERON:0001474", + "CL:0000329", + "UPHENO:0082875", + "HP:0011355", + "HP:0000104", + "UPHENO:0008593", + "UPHENO:0026980", + "GO:1901360", + "HP:0000980", + "UBERON:0000061", + "UPHENO:0025211", + "HP:0025461", + "UPHENO:0009399", + "UBERON:0015021", + "UBERON:0002386", + "UPHENO:0086635", + "HP:0000240", + "HP:0000812", + "UBERON:0000955", + "UBERON:0010703", + "UBERON:0010912", + "CL:0000094", + "HP:0040072", + "UPHENO:0086956", + "UPHENO:0085356", + "GO:0019953", + "GO:0071840", + "HP:0002813", + "HP:0002818", + "UPHENO:0076799", + "HP:0000119", + "UPHENO:0081511", + "UBERON:0004176", + "UPHENO:0079872", + "UPHENO:0009341", + "GO:0006725", + "UPHENO:0087501", + "UBERON:0013702", + "UPHENO:0080187", + "UBERON:0002405", + "UPHENO:0021561", + "UBERON:0003606", + "UBERON:0002104", + "HP:0006503", + "UPHENO:0041821", + "HP:0009825", + "UPHENO:0002332", + "HP:0012874", + "HP:0009142", + "UBERON:0004535", + "UPHENO:0002751", + "UBERON:0002495", + "UBERON:0001423", + "HP:0001249", + "UBERON:0001968", + "UBERON:0010741", + "UPHENO:0081755", + "UBERON:0002471", + "CL:0000151", + "UPHENO:0069254", + "UBERON:0000949", + "UBERON:0003466", + "HP:0001911", + "UBERON:0006048", + "UPHENO:0025945", + "HP:0040070", + "UBERON:0001690", + "UBERON:0015410", + "UPHENO:0086173", + "CL:0000457", + "UPHENO:0086045", + "HP:0011875", + "UPHENO:0087355", + "UPHENO:0087339", + "UBERON:0011584", + "UPHENO:0084987", + "UPHENO:0085042", + "HP:0012145", + "UPHENO:0084761", + "HP:0001872", + "CL:0000458", + "UPHENO:0026028", + "UPHENO:0084928", + "UPHENO:0085302", + "GO:0048519", + "UBERON:0006058", + "UPHENO:0085874", + "HP:0001871", + "UBERON:0000079", + "UPHENO:0086201", + "HP:0001000", + "UPHENO:0080382", + "HP:0003953", + "GO:0048609", + "GO:0003006", + "HP:0004742", + "UBERON:0003620", + "HP:0012130", + "CL:0000300", + "UPHENO:0005597", + "CL:0000586", + "UPHENO:0052231", + "HP:0000028", + "HP:0001627", + "UPHENO:0049970", + "GO:0000003", + "HP:0000811", + "HP:0005918", + "HP:0012243", + "HP:0001172", + "UBERON:0011676", + "HP:0002973", + "HP:0000025", + "HP:0001510", + "UPHENO:0086023", + "UBERON:0004288", + "UPHENO:0002830", + "UBERON:0015228", + "CL:0000015", + "UPHENO:0076941", + "UPHENO:0002764", + "UPHENO:0002597", + "UBERON:0011216", + "UBERON:0004175", + "HP:0008669", + "HP:0000035", + "HP:0004322", + "UPHENO:0087973", + "UPHENO:0086198", + "HP:0012041", + "UPHENO:0079826", + "UBERON:0004122", + "UPHENO:0002595", + "CL:0000413", + "CL:0000039", + "UPHENO:0076718", + "UPHENO:0005651", + "UPHENO:0052778", + "GO:0050877", + "HP:0011927", + "UBERON:0015063", + "UPHENO:0078729", + "UBERON:0000463", + "UPHENO:0078452", + "UPHENO:0053298", + "UBERON:0000473", + "UPHENO:0086005", + "UBERON:0004053", + "UPHENO:0008668", + "UPHENO:0068971", + "UPHENO:0046411", + "HP:0004325", + "UPHENO:0031839" + ], + "has_phenotype_closure_label": [ + "Decreased fertility in males", + "Decreased fertility", + "DNA repair", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "abnormal response to stress", + "abnormal cellular response to stress", + "abnormal DNA repair", + "response to stress", + "cell cycle phase", + "Abnormality of the cell cycle", + "G2 phase", + "decreased qualitatively sensory perception of mechanical stimulus", + "decreased sensory perception of sound", + "abnormal ear", + "abnormal sensory perception", "Hearing abnormality", - "non-material anatomical boundary", - "abnormal behavior", - "response to stimulus", - "eye movement", + "ear", + "sensory perception of sound", + "body part movement", "anatomical line", + "immaterial anatomical entity", + "Strabismus", "abnormal response to stimulus", - "Abnormality of eye movement", - "Abnormal eye physiology", - "abnormality of camera-type eye physiology", - "abnormal behavior process", - "abnormal size of multicellular organism", - "decreased height of the anatomical entity", - "decreased size of the multicellular organism", - "abnormality of anatomical entity height", - "delayed growth", - "Growth delay", + "response to stimulus", + "behavior process", + "abnormal eye movement", + "eye movement", + "behavior", + "delayed biological_process", + "Short stature", "Abnormality of body height", + "abnormal DNA damage response", + "delayed growth", + "abnormal size of multicellular organism", "decreased height of the multicellular organism", "abnormality of multicellular organism height", - "abnormal shape of continuant", + "Abnormality of eye movement", "concave 3-D shape anatomical entity", + "shape anatomical entity", "Horseshoe kidney", "3-D shape anatomical entity", - "shape anatomical entity in independent continuant", - "ear", - "Neoplasm by anatomical site", - "delayed biological_process", - "Irregular hyperpigmentation", - "Hypermelanotic macule", - "increased pigmentation in independent continuant", - "Hyperpigmentation of the skin", - "increased qualitatively biological_process in independent continuant", - "abnormal response to stress", - "Cafe-au-lait spot", - "abnormal biological_process in independent continuant", - "increased qualitatively biological_process", - "Localized skin lesion", - "vasculature", + "U-shaped anatomical entity", + "Neoplasm", + "Hematological neoplasm", + "Generalized abnormality of skin", "Internal hemorrhage", - "abnormality of cardiovascular system physiology", "Abnormality of the vasculature", - "Abnormal cardiovascular system physiology", - "circulatory system process", - "cardiovascular system", - "Strabismus", - "circulatory organ", - "thoracic segment organ", + "blood circulation", + "Vascular skin abnormality", + "Abnormality of blood circulation", + "vasculature", + "abnormality of cardiovascular system physiology", + "Abnormal bleeding", + "Bruising susceptibility", + "Subcutaneous hemorrhage", "vascular system", - "thoracic segment of trunk", - "heart plus pericardium", - "Abnormality of cardiovascular system morphology", - "abnormal cardiovascular system", - "primary circulatory organ", - "Complete duplication of phalanx of hand", - "Duplication of hand bones", - "manual digit digitopodial skeleton", - "skeleton of manual acropodium", - "Abnormal long bone morphology", + "abnormal anatomical entity morphology in the skeleton of manus", "Abnormality of thumb phalanx", - "Abnormal finger phalanx morphology", - "sensory perception of sound", - "abnormal phalanx of manus morphology", + "manual digitopodium bone", + "Duplication of bones involving the upper extremities", "phalanx", - "digitopodium bone", - "U-shaped anatomical entity", - "manual digit 1 phalanx endochondral element", + "phalanx endochondral element", + "manual digit phalanx endochondral element", + "abnormal phalanx morphology", + "abnormal phalanx of manus morphology", "Duplication of phalanx of hand", - "individual digit of digitopodial skeleton", - "Duplication of thumb phalanx", - "biological regulation", + "acropodial skeleton", + "manual digit bone", + "digit 1 digitopodial skeleton", + "manual digit digitopodial skeleton", + "digitopodium bone", + "skeleton of manual acropodium", "abnormal primary metabolic process", - "Leukemia", + "Abnormality of metabolism/homeostasis", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "vestibulo-auditory system", + "protein-DNA complex organization", + "Abnormality of DNA repair", + "abnormal organelle organization", + "regulation of biosynthetic process", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process", + "protein-containing complex organization", + "regulation of biological process", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", + "abnormal cellular component organization", + "Chromosome breakage", + "negative regulation of gene expression", + "abnormal metabolic process", + "cellular response to stimulus", "Chromosomal breakage induced by crosslinking agents", - "organic substance metabolic process", + "metabolic process", + "cellular process", + "abnormal DNA metabolic process", + "decreased height of the anatomical entity", "regulation of cellular process", - "regulation of metabolic process", - "Vascular skin abnormality", "negative regulation of biological process", - "Generalized abnormality of skin", "nucleobase-containing compound metabolic process", "organic cyclic compound metabolic process", + "Duplicated collecting system", + "macromolecule metabolic process", "obsolete heterocycle metabolic process", - "immaterial entity", "obsolete cellular aromatic compound metabolic process", "obsolete cellular nitrogen compound metabolic process", - "response to stress", "cellular component organization", - "regulation of biosynthetic process", - "regulation of cellular metabolic process", - "negative regulation of cellular process", - "organelle organization", - "regulation of gene expression", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", "negative regulation of macromolecule biosynthetic process", "negative regulation of cellular biosynthetic process", - "programmed DNA elimination", - "cellular metabolic process", - "negative regulation of gene expression", - "Chromosome breakage", - "regulation of cellular biosynthetic process", - "negative regulation of biosynthetic process", - "negative regulation of macromolecule metabolic process", - "negative regulation of cellular metabolic process", - "DNA metabolic process", - "decreased multicellular organism mass", - "growth", - "increased biological_process in skin of body", + "chromatin organization", + "abnormal chromatin organization", "abnormal growth", - "Hearing impairment", - "Decreased body weight", - "Small for gestational age", "Decreased multicellular organism mass", - "visual system", - "manual digit 1 phalanx", - "chromatin organization", + "abnormality of multicellular organism mass", + "abnormal cell cycle", + "Duplication of thumb phalanx", + "abnormality of anatomical entity mass", + "decreased anatomical entity mass", + "abnormal size of eyeball of camera-type eye", + "abnormal face morphology", + "Abnormal eye morphology", + "abnormal orbital region", + "Abnormality of the face", + "simple eye", "sensory system", - "eye", - "face", - "orbital region", - "Aplasia/Hypoplasia affecting the eye", - "Microphthalmia", - "subdivision of head", - "entire sense organ system", - "abnormal pigmentation in independent continuant", - "abnormal eyeball of camera-type eye", - "changed biological_process rate in independent continuant", + "Abnormality of the eye", + "abnormal face", + "sense organ", "eyeball of camera-type eye", "camera-type eye", - "negative regulation of metabolic process", + "Microphthalmia", + "orbital region", + "Abnormality of the orbital region", + "abnormal eyeball of camera-type eye", "abnormal camera-type eye morphology", - "Abnormality of globe size", - "Abnormality of the eye", - "primary metabolic process", - "abnormal enucleated reticulocyte morphology", - "abnormal vasculature", - "Abnormal reticulocyte morphology", - "Complete duplication of thumb phalanx", - "abnormal number of anatomical enitites of type reticulocyte", - "anatomical line between pupils", + "decreased size of the eyeball of camera-type eye", + "visual system", "abnormally decreased number of reticulocyte", - "Short finger", - "decreased size of the anatomical entity in the pectoral complex", - "decreased size of the anatomical entity in the independent continuant", - "decreased length of manual digit", - "sensory perception", - "decreased length of anatomical entity", - "decreased length of manual digit 1", - "Short digit", - "autopod endochondral element", - "autopod bone", - "phalanx of manus", - "decreased length of anatomical entity in independent continuant", - "decreased length of digit", - "decreased size of the anatomical entity", - "abnormal number of anatomical enitites of type sperm", - "abnormality of male reproductive system physiology", - "gamete", - "semen", - "developmental process", - "abnormal pigmentation", - "reproductive process", - "Abnormal internal genitalia", - "Abnormal testis morphology", - "developmental process involved in reproduction", + "reticulocyte", "multicellular organismal reproductive process", - "abnormal reproductive process", - "decreased qualitatively developmental process", - "absent anatomical entity in the semen", - "gamete generation", - "abnormal male reproductive system morphology", - "spermatogenesis", - "absent sperm", - "abnormally localised testis", - "abnormal multicellular organismal reproductive process", - "absent gamete", - "manual digit bone", - "decreased spermatogenesis", - "abnormal male reproductive system", - "abnormal metabolic process", - "changed biological_process rate", - "decreased qualitatively sensory perception of sound", - "absent sperm in the semen", - "obsolete multicellular organism reproduction", - "Azoospermia", - "Abnormality of the male genitalia", - "sperm", - "external genitalia", - "anatomical cluster", - "internal genitalia", - "abnormal reproductive system morphology", - "decreased qualitatively biological_process", - "Abnormal spermatogenesis", - "abnormal internal genitalia", - "external male genitalia", - "abnormal external male genitalia", - "decreased qualitatively reproductive process", - "decreased developmental process", - "abnormal developmental process", - "abnormality of internal male genitalia physiology", - "abnormal gamete generation", - "abnormal heart morphology", - "abnormal external genitalia", - "abnormal developmental process involved in reproduction", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "abnormal orbital region", - "bone marrow cell", - "obsolete nitrogen compound metabolic process", - "platelet", - "biogenic amine secreting cell", - "Short thumb", - "germ line cell", - "bone cell", - "sexual reproduction", - "anucleate cell", - "abnormal male reproductive organ morphology", - "bone marrow", - "secretory cell", - "manual digit phalanx endochondral element", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", - "abnormal bone marrow cell morphology", - "Abnormality of bone marrow cell morphology", - "decreased biological_process", - "serotonin secreting cell", - "Abnormal platelet morphology", - "abnormally decreased number of platelet", - "tissue", - "abnormal platelet", + "Non-obstructive azoospermia", + "axial skeleton plus cranial skeleton", + "abnormality of anatomical entity physiology", "abnormal hematopoietic system morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal blood cell morphology", - "male gamete generation", - "zeugopodial skeleton", - "aplastic forelimb zeugopod bone", - "absent forelimb zeugopod bone", - "sensory perception of mechanical stimulus", - "Aplasia involving forearm bones", - "abnormal limb long bone morphology", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "vestibulo-auditory system", - "absent germ cell", - "forelimb endochondral element", - "abnormal forelimb zeugopod bone", - "body part movement", - "absent radius bone in the forelimb", - "manual digit 1 digitopodial skeleton", - "abnormal forelimb zeugopod morphology", - "abnormal long bone morphology", - "Abnormal forearm bone morphology", - "behavior process", - "Aplasia/hypoplasia involving forearm bones", - "enucleated reticulocyte", - "quality", - "forelimb zeugopod bone", - "Atypical behavior", + "Abnormality of mental function", + "abnormal cardiovascular system morphology", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "Duplication of hand bones", + "abnormal nitrogen compound metabolic process", + "nervous system process", + "system process", + "Male infertility", + "abnormal limb morphology", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "organ", + "cellular response to stress", + "appendicular skeleton", + "upper limb segment", + "appendicular skeletal system", + "arm", + "endochondral bone", + "subdivision of skeleton", + "Abnormal cardiovascular system physiology", "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "abnormally decreased number of myeloid cell in the independent continuant", - "limb long bone", - "radius bone", - "long bone", - "abnormal blood circulation", - "bone of free limb or fin", - "Abnormal morphology of the radius", - "Absent forearm bone", - "shape kidney", - "abnormally decreased number of anatomical entity", - "Hypogonadism", - "Abnormal forearm morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "absent kidney in the renal system", - "absent kidney", - "Anemia", - "abnormal erythroid lineage cell morphology", - "nucleic acid metabolic process", - "Absent radius", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "abnormal DNA metabolic process", - "abnormal chromatin organization", - "forelimb", - "abnormal anatomical entity morphology in the skeleton of manus", + "entity", + "negative regulation of cellular process", + "abnormal limb", + "manus", + "head", + "abnormal digit", + "thoracic segment of trunk", + "Abnormal appendicular skeleton morphology", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "system", + "aplasia or hypoplasia of manual digit 1", + "bone of appendage girdle complex", + "Abnormal finger phalanx morphology", + "pigmentation", + "genitourinary system", + "decreased qualitatively reproductive process", + "abnormal limb bone morphology", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal number of anatomical enitites of type granulocyte", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", "autopodial skeleton", - "abnormal anatomical entity", - "motile cell", + "occurrent", + "abnormal male reproductive organ morphology", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "abnormal autopod region morphology", + "Absent thumb", + "paired limb/fin skeleton", + "Neurodevelopmental abnormality", + "subdivision of organism along appendicular axis", + "Abnormal male reproductive system physiology", + "digit plus metapodial segment", + "Cognitive impairment", + "abnormal male reproductive system", "paired limb/fin", - "abnormal anatomical entity morphology in the manus", - "pectoral appendage", - "abnormal anatomical entity morphology in the pectoral complex", - "central nervous system", - "absent anatomical entity", + "anatomical collection", + "All", + "increased qualitatively biological_process", + "Aplasia involving bones of the extremities", + "forelimb", + "Abnormal forebrain morphology", + "abnormal digit morphology", "abnormal manus", - "Finger aplasia", - "digitopodium region", "multi-limb segment region", - "abnormal immune system morphology", - "radius endochondral element", - "trunk", + "endochondral element", + "bone element", + "Abnormality of the ear", + "abnormally decreased number of leukocyte", + "digit", + "Hyperpigmentation of the skin", + "manual digit plus metapodial segment", + "abnormal skeletal system", "digit 1 plus metapodial segment", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "male reproductive system", - "abnormal cell morphology", - "limb bone", - "abnormal arm", - "Abnormality of skull size", + "limb", + "Neoplasm by anatomical site", + "Decreased anatomical entity mass", + "Abnormality of the upper limb", + "cell", + "absent anatomical entity in the renal system", + "skeleton", + "male gamete generation", + "absent anatomical entity", + "regulation of metabolic process", + "Decreased body weight", + "autopodial extension", + "manual digit 1", + "abnormal immune system morphology", + "skeletal system", + "motile cell", + "Abnormality of limbs", + "Abnormality of limb bone morphology", "Abnormal digit morphology", + "multicellular organismal process", + "Aplasia/hypoplasia involving forearm bones", + "segment of manus", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal cellular metabolic process", + "musculoskeletal system", + "abnormal upper urinary tract", + "abnormally decreased number of myeloid cell", + "aplastic anatomical entity", + "face", "aplasia or hypoplasia of manual digit", - "Abnormal platelet count", - "absent anatomical entity in the skeletal system", - "abnormal forelimb morphology", - "autopodial extension", - "abnormal platelet morphology", - "Abnormality of reproductive system physiology", - "digit plus metapodial segment", - "erythrocyte", - "abnormal limb bone morphology", - "Aplasia/hypoplasia involving bones of the hand", - "G2 phase", - "manual digitopodium region", - "skeleton of digitopodium", - "skeleton of pectoral complex", - "abnormal appendicular skeleton morphology", - "Eumetazoa", - "segment of autopod", - "Abnormality of thrombocytes", - "forelimb bone", - "shape anatomical entity", - "Subcutaneous hemorrhage", - "regional part of nervous system", - "abnormal head", - "digit 1", - "Abnormal erythroid lineage cell morphology", - "male reproductive organ", - "reproductive structure", - "cell cycle", - "abnormal reproductive system", - "manual digit 1 or 5", - "Aplasia involving bones of the upper limbs", - "system", - "subdivision of organism along main body axis", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the hand", - "Abnormal hand morphology", - "abnormal manual digit morphology in the independent continuant", - "aplasia or hypoplasia of skeleton", + "Aplasia/hypoplasia of the extremities", "forelimb skeleton", - "Intellectual disability", - "absent manual digit", - "digit 1 or 5", - "arm", - "Short stature", - "Abnormality of limb bone", - "abnormal size of eyeball of camera-type eye", - "abnormal face", - "aplastic anatomical entity", - "abnormal eye movement", - "subdivision of organism along appendicular axis", - "cellular response to stress", - "absent anatomical entity in the independent continuant", - "agenesis of anatomical entity", - "bone of appendage girdle complex", - "manual digit", - "Abnormality of limb bone morphology", - "glandular system", - "skull", "endocrine system", - "abnormal endocrine system", - "Abnormality of the cell cycle", - "Abnormal appendicular skeleton morphology", - "renal system", + "abnormally decreased functionality of the anatomical entity", + "agenesis of anatomical entity", + "abnormal anatomical entity morphology in the manus", + "cardiovascular system", + "acropodium region", + "Intellectual disability", + "bone marrow", + "skeleton of manus", + "skeleton of limb", + "Abnormality of skin pigmentation", + "Aplasia involving forearm bones", + "anatomical system", + "material anatomical entity", "Hypergonadotropic hypogonadism", - "reproductive organ", - "increased pigmentation", - "decreased anatomical entity mass", - "anatomical entity dysfunction in independent continuant", - "Male infertility", - "endochondral bone", - "abnormal limb bone", - "abnormally decreased functionality of the gonad", - "Infertility", - "digit 1 digitopodial skeleton", - "gonad", - "regional part of brain", - "abnormality of reproductive system physiology", - "heart", - "upper limb segment", - "Abnormality of the genital system", - "increased pigmentation in skin of body", - "manual digit 1", - "cellular process", - "Abnormality of metabolism/homeostasis", - "Bruising susceptibility", - "cellular component organization or biogenesis", - "Abnormality of the face", - "Phenotypic abnormality", - "abnormal digit morphology", - "Abnormality of the genitourinary system", - "cell cycle phase", - "decreased size of the eyeball of camera-type eye", - "appendage girdle complex", + "abnormal enucleated reticulocyte morphology", + "nucleate cell", + "decreased qualitatively sensory perception of sound", "abnormal anatomical entity topology in independent continuant", - "limb segment", + "sexual reproduction", + "organ system subdivision", + "abnormal blood cell", + "erythrocyte", "Macule", - "Abnormality of the cardiovascular system", - "abnormal biological_process", - "skin of body", - "multi-tissue structure", - "Abnormal cellular physiology", - "Aplasia/hypoplasia of the extremities", - "biological phase", - "obsolete cell", - "interphase", - "Prolonged G2 phase of cell cycle", - "upper urinary tract", - "skeletal system", - "abnormally decreased functionality of the anatomical entity", - "abnormal ear", - "abdominal segment element", - "abnormal cell cycle", - "Abnormality of the upper limb", - "absent anatomical entity in the limb", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "DNA repair", - "Abnormality of the skeletal system", - "digit", - "abdominal segment of trunk", - "abnormal renal collecting system", - "Abnormal cellular immune system morphology", - "Duplicated collecting system", - "testis", - "craniocervical region", - "abnormal cellular process", - "abnormal programmed DNA elimination by chromosome breakage", - "Abnormal leukocyte morphology", - "Abnormality of brain morphology", - "Abnormal upper limb bone morphology", - "abnormally decreased number of leukocyte", - "skeletal element", - "Abnormality of mental function", - "Abnormality of the head", - "Abnormal reproductive system morphology", - "Pancytopenia", - "Morphological central nervous system abnormality", - "manus bone", - "Absent thumb", - "skeleton", - "zeugopod", - "abnormal anatomical entity morphology in the brain", + "renal system", + "abnormal kidney morphology", + "main body axis", + "decreased spermatogenesis", + "quality", + "abnormal manus morphology", + "abnormally decreased number of hematopoietic cell", + "phenotype by ontology source", + "excretory system", + "bone marrow cell", + "circulatory system", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "abnormal myeloid cell morphology", + "increased biological_process", + "Abnormality of the nervous system", + "abnormality of internal male genitalia physiology", + "absent digit", + "phenotype", + "Abnormal cell morphology", + "abnormal arm", + "Atypical behavior", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormal renal system", + "Abnormality of the upper urinary tract", + "hemolymphoid system", + "Aplasia/hypoplasia involving the skeleton", + "abdomen element", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "DNA damage response", + "lateral structure", + "abnormal vasculature", "abnormal genitourinary system", - "abnormal axial skeleton plus cranial skeleton morphology", - "Abnormality of body weight", - "abnormal telencephalon morphology", - "abnormal brain morphology", - "aplasia or hypoplasia of telencephalon", - "abnormal autopod region morphology", - "absent radius bone", - "compound organ", - "autopod region", - "abnormally localised anatomical entity in independent continuant", - "musculoskeletal system", - "organism", - "postcranial axial skeletal system", - "paired limb/fin skeleton", + "changed developmental process rate", "Abnormal cerebral morphology", - "Non-obstructive azoospermia", + "abnormal blood circulation", + "arm bone", + "Short thumb", + "enucleated reticulocyte", + "Abnormality of the kidney", + "abnormal anatomical entity", + "Small for gestational age", + "Abnormal forearm morphology", + "abnormal immune system", + "abnormality of anatomical entity height", + "subdivision of organism along main body axis", + "abnormal leukocyte morphology", + "anatomical line between pupils", + "independent continuant", + "abnormal renal system morphology", + "abnormal forelimb morphology", + "abnormal location of anatomical entity", + "absent kidney in the renal system", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "reproduction", + "trunk region element", + "cell cycle", + "pectoral complex", + "Anemic pallor", "absent anatomical entity in the multicellular organism", - "anterior region of body", - "Abnormality of the integument", - "paired limb/fin segment", - "abnormally decreased number of neutrophil", - "granulocyte", - "abnormally decreased number of hematopoietic cell", - "Eukaryota", - "forebrain", - "Abnormality of multiple cell lineages in the bone marrow", - "anatomical collection", - "abnormal skull morphology", - "appendicular skeleton", - "Abnormal axial skeleton morphology", - "behavior", - "blood cell", - "erythroid lineage cell", - "abnormal size of anatomical entity", "hematopoietic system", - "abnormal forebrain morphology", - "haploid cell", - "Abnormal renal morphology", - "Abnormality of limbs", + "thoracic cavity element", + "Abnormal cellular immune system morphology", + "Abnormal nervous system physiology", + "Abnormality of the immune system", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "skeletal element", + "zeugopod", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "external genitalia", + "renal collecting system", + "Ectopic kidney", + "subdivision of head", + "appendage girdle complex", + "Renal hypoplasia/aplasia", + "abnormality of ear physiology", + "absent anatomical entity in the forelimb", "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "root", - "Abnormal neutrophil count", - "increased biological_process", - "reticulocyte", - "abnormal central nervous system morphology", - "abnormal organelle organization", - "abnormal head morphology", - "head", - "abnormally decreased number of granulocyte", - "abnormal sensory perception", - "Neurodevelopmental abnormality", + "cellular metabolic process", + "Abnormality of neutrophils", + "leukocyte", + "abnormal gamete generation", + "decreased multicellular organism mass", + "Aplasia/Hypoplasia involving the central nervous system", + "continuant", + "abnormal neutrophil", + "ectoderm-derived structure", + "structure with developmental contribution from neural crest", + "phalanx of manus", + "negative regulation of biosynthetic process", + "material entity", + "long bone", + "regional part of nervous system", "Abnormal conjugate eye movement", - "process", - "organ system subdivision", - "Abnormal skull morphology", - "Neoplasm", - "abnormal bone marrow cell", - "system process", - "Abnormal granulocyte morphology", + "forelimb bone", + "non-connected functional system", + "abdominal segment element", + "abnormal reproductive system morphology", + "abnormal hematopoietic system", + "Renal agenesis", "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", + "gamete generation", + "Aplasia/Hypoplasia of the thumb", + "bone cell", "biological_process", - "subdivision of skeleton", - "circulatory system", - "sense organ", - "subdivision of skeletal system", - "aplasia or hypoplasia of radius bone", - "main body axis", - "cellular organisms", - "telencephalon", - "manual digit 1 plus metapodial segment", - "Duplication of bones involving the upper extremities", - "abnormal postcranial axial skeleton morphology", - "Thrombocytopenia", - "abnormal craniocervical region morphology", - "abnormal skin of body", - "absent anatomical entity in the forelimb", - "All", - "Abnormal heart morphology", - "Renal hypoplasia/aplasia", - "abnormal number of anatomical enitites of type anatomical entity", - "Decreased fertility", - "integument", - "viscus", - "integumental system", - "multicellular organismal process", - "Decreased anatomical entity mass", - "Abnormality of skin morphology", - "Abnormality of the skin", - "male gamete", - "ectoderm-derived structure", - "organism substance", - "Aplasia/Hypoplasia involving the central nervous system", - "protein-DNA complex organization", - "organ", - "programmed DNA elimination by chromosome breakage", - "abnormal bone marrow morphology", + "myeloid leukocyte", + "entire sense organ system", + "absent radius bone in the independent continuant", + "Abnormal localization of kidney", + "biological regulation", + "abdominal segment of trunk", + "abnormal central nervous system morphology", + "abnormal renal collecting system", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal phenotype by ontology source", + "Abnormal thumb morphology", + "subdivision of trunk", + "absent manual digit", + "manual digit 1 digitopodial skeleton", + "regulation of gene expression", + "pectoral appendage", + "body proper", + "cognition", + "appendage", + "root", + "abnormally localised anatomical entity in independent continuant", + "abnormality of nervous system physiology", "organism subdivision", - "abnormal gamete", - "Abnormal nervous system physiology", - "thoracic cavity element", - "Abnormality of the kidney", - "Cryptorchidism", - "abnormal leukocyte morphology", + "abnormally decreased number of myeloid cell in the independent continuant", + "cranial skeletal system", + "Abnormal eye physiology", + "segment of autopod", + "reproductive system", + "aplastic manual digit 1", + "skeleton of pectoral complex", "abnormally localised anatomical entity", - "non-connected functional system", - "cavitated compound organ", - "Abnormality of the musculoskeletal system", - "abnormal size of skull", - "abnormal limb", - "trunk region element", - "pectoral complex", - "abnormal hematopoietic system", - "Anemic pallor", - "absent anatomical entity in the renal system", - "abdomen", - "acropodial skeleton", - "abnormal kidney", - "nervous system process", - "body proper", - "forelimb zeugopod", + "hematopoietic cell", + "abnormally decreased number of granulocyte", + "abnormal hematopoietic cell morphology", + "viscus", + "Abnormal granulocyte morphology", + "Abnormal cellular phenotype", + "abnormal limb bone", "Abnormal nervous system morphology", - "genitourinary system", - "abnormality of anatomical entity mass", - "abnormal cell", - "bone element", + "Complete duplication of phalanx of hand", + "limb bone", + "granulocyte", + "abnormal number of anatomical enitites of type anatomical entity", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "paired limb/fin segment", + "abnormality of camera-type eye physiology", + "immune system", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal manual digit 1 morphology", + "Absent forearm bone", + "Leukemia", + "abnormal cell morphology", "abnormal nervous system morphology", - "abnormal cardiovascular system morphology", - "Abnormal eye morphology", - "Abnormality of head or neck", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/hypoplasia involving bones of the extremities", - "skeleton of manual digitopodium", - "axial skeletal system", - "abnormality of nervous system physiology", - "Abnormality of the upper urinary tract", - "regulation of biological process", - "Abnormal thumb morphology", - "oxygen accumulating cell", - "Abnormal localization of kidney", - "subdivision of trunk", - "abdomen element", - "Abnormal renal collecting system morphology", - "male germ cell", - "limb", - "lateral structure", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "phenotype", - "abnormal renal system", - "postcranial axial skeleton", - "abnormally localised kidney", - "absent digit", - "Abnormality of blood and blood-forming tissues", - "anatomical structure", - "Abnormality of the urinary system", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "blood cell", + "Abnormality of the genitourinary system", + "forebrain", + "Abnormality of the cardiovascular system", "Abnormal myeloid cell morphology", - "manual digitopodium bone", - "abnormal skeletal system morphology", - "absent sperm in the independent continuant", + "U-shaped kidney", + "digit 1 or 5", + "skeleton of manual digitopodium", + "primary circulatory organ", + "neutrophil", + "Complete duplication of thumb phalanx", + "manual digit 1 phalanx", + "abnormal forelimb zeugopod bone", + "Abnormal myeloid leukocyte morphology", + "Pancytopenia", + "abnormal head", + "organism", + "programmed DNA elimination", + "obsolete cell", "internal male genitalia", - "occurrent", - "Metazoa", - "Cognitive impairment", - "abnormal integument", - "abnormal nervous system", - "abnormal cellular component organization", - "appendicular skeletal system", - "Abnormality of the nervous system", - "abnormal cellular metabolic process", - "acropodium region", - "pectoral appendage skeleton", - "nucleate cell", - "Abnormality of the orbital region", - "Abnormal cellular phenotype", - "entity", - "abnormal number of anatomical enitites of type hematopoietic cell", - "pigmentation", - "myeloid leukocyte", - "germ cell", - "abnormal spermatogenesis", - "segment of manus", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "absent kidney in the independent continuant", - "manual digit plus metapodial segment", - "phalanx endochondral element", - "limb skeleton subdivision", - "abnormal craniocervical region", - "Microcephaly", - "immune system", - "abnormal neutrophil", - "abnormal blood cell", - "increased biological_process in independent continuant", + "Abnormal granulocyte count", + "eye", + "compound organ", + "zeugopodial skeleton", + "limb long bone", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "abnormal anatomical entity morphology in the pectoral complex", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "abnormal developmental process involved in reproduction", "Functional abnormality of male internal genitalia", - "abnormally decreased number of cell in the independent continuant", + "circulatory system process", + "cavitated compound organ", + "Abnormal leukocyte count", + "manual digit 1 plus metapodial segment", + "abdomen", + "limb endochondral element", "abnormally decreased number of cell", - "cranial skeletal system", - "abnormal bone of pectoral complex morphology", - "Hematological neoplasm", - "Aplasia/Hypoplasia of fingers", - "leukocyte", + "abnormal myeloid leukocyte morphology", + "increased qualitatively biological_process in independent continuant", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "abnormal nervous system", + "biological phase", + "autopod bone", "mesoderm-derived structure", - "macromolecule metabolic process", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "gonad", + "multi-tissue structure", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "abnormally decreased number of granulocyte in the independent continuant", + "Abnormal skull morphology", + "abnormal craniocervical region morphology", + "immaterial entity", + "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", + "Abnormality of body weight", + "aplasia or hypoplasia of telencephalon", + "limb skeleton subdivision", + "skull", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "absent sperm in the semen", "bone of pectoral complex", - "abnormal upper urinary tract", - "specifically dependent continuant", - "abnormal anatomical entity length", - "abnormal number of anatomical enitites of type cell", - "abnormal digit", - "abnormal number of anatomical enitites of type neutrophil", - "abnormality of anatomical entity physiology", - "Puberty and gonadal disorders", - "Abnormal immune system morphology", - "abnormal nitrogen compound metabolic process", - "abnormal immune system", - "abnormally decreased number of myeloid cell", - "Abnormality of blood circulation", - "excretory system", - "skeleton of limb", + "decreased length of anatomical entity", + "autopod endochondral element", + "Abnormality of limb bone", + "central nervous system", + "regional part of brain", + "craniocervical region", + "Abnormality of head or neck", + "abnormal kidney", + "abnormal reproductive system", + "abnormal head morphology", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "spermatogenesis", + "abnormal telencephalon morphology", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "manual digit 1 phalanx endochondral element", + "tissue", + "absent anatomical entity in the semen", + "Abnormality of brain morphology", "nervous system", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "protein-containing complex organization", - "abnormal granulocyte morphology", - "Decreased head circumference", - "hematopoietic cell", - "regulation of macromolecule metabolic process", - "continuant", - "aplastic manual digit 1", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal myeloid leukocyte morphology", - "abnormal manual digit morphology in the manus", - "Ectopic kidney", - "hemolymphoid system", - "forelimb long bone", - "abnormal manus morphology", - "cell", - "phenotype by ontology source", - "metabolic process", - "abnormal phalanx morphology", - "myeloid cell", - "Neutropenia", - "abnormal skeletal system", - "disconnected anatomical group", - "abnormal number of anatomical enitites of type granulocyte", - "changed developmental process rate", - "neutrophil", - "abnormal cellular response to stress", - "independent continuant", - "Aplasia/hypoplasia involving the skeleton", - "Abnormal granulocyte count", - "abnormal hematopoietic cell morphology", - "abnormal limb morphology", - "brain", - "Abnormal external genitalia", - "Abnormal leukocyte count", - "Renal agenesis", - "Pallor", + "forelimb zeugopod bone", + "kinesthetic behavior", + "Eumetazoa", + "Infertility", + "negative regulation of cellular metabolic process", + "Eukaryota", + "decreased length of manual digit", + "abnormal forebrain morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "telencephalon", "Growth abnormality", - "abnormal renal system morphology", - "arm bone", - "abnormal anatomical entity morphology", - "Abnormality of the immune system", - "Aplasia involving bones of the extremities", - "aplasia or hypoplasia of anatomical entity", - "3-D shape anatomical entity in independent continuant", - "anatomical system", - "Abnormality of the endocrine system", - "abnormal kidney morphology", - "immaterial anatomical entity", - "Abnormal bleeding", - "blood circulation", - "endochondral element", - "Abnormality of neutrophils", - "structure with developmental contribution from neural crest", - "renal collecting system", - "Abnormality of skin pigmentation", - "abnormally decreased number of granulocyte in the independent continuant", - "simple eye", + "axial skeletal system", + "abnormal skull morphology", + "reproductive organ", + "abnormal number of anatomical enitites of type reticulocyte", + "decreased developmental process", + "postcranial axial skeleton", + "Abnormal renal collecting system morphology", + "decreased qualitatively developmental process", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "changed biological_process rate in independent continuant", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "Decreased head circumference", + "abnormal size of anatomical entity", + "Abnormality of thrombocytes", + "Abnormal renal morphology", + "abnormal external genitalia", + "Abnormal axial skeleton morphology", + "non-material anatomical boundary", + "erythroid lineage cell", + "Abnormal reproductive system morphology", + "abnormal cardiovascular system", + "thoracic segment organ", + "Abnormal finger morphology", + "Abnormal erythrocyte morphology", + "circulatory organ", + "heart plus pericardium", + "Cryptorchidism", + "Abnormality of cardiovascular system morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "abnormal heart morphology", + "abnormal integument", + "Cafe-au-lait spot", "abnormally decreased number of anatomical entity in the independent continuant", - "axial skeleton plus cranial skeleton", - "Abnormal skeletal morphology", - "limb endochondral element", - "anatomical entity", + "abnormal anatomical entity morphology", + "increased pigmentation", + "Neutropenia", + "reproductive structure", + "changed biological_process rate", + "increased biological_process in skin of body", + "absent germ cell", + "decreased size of the anatomical entity", + "abnormal biological_process in independent continuant", + "abnormal skin of body", + "Abnormality of the integument", + "Abnormality of bone marrow cell morphology", + "Growth delay", + "kidney", + "abnormal biological_process", + "Abnormality of skin morphology", + "integumental system", + "integument", + "absent radius bone in the forelimb", + "increased biological_process in independent continuant", "abnormal skin of body morphology", - "absent radius bone in the independent continuant", - "abnormality of multicellular organism mass", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "primary metabolic process", + "forelimb endochondral element", + "Abnormality of the skin", + "germ line cell", + "abnormal pigmentation in independent continuant", + "Abnormal forearm bone morphology", + "increased pigmentation in independent continuant", + "organic substance metabolic process", + "Abnormality of the head", + "heart", + "abnormal pigmentation", + "Abnormal heart morphology", + "abnormality of reproductive system physiology", + "limb segment", + "absent sperm", + "Abnormality of the genital system", + "Abnormality of reproductive system physiology", + "gamete", + "Abnormality of the endocrine system", + "abnormal endocrine system", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "Puberty and gonadal disorders", + "glandular system", + "male gamete", + "abnormally decreased functionality of the gonad", + "oxygen accumulating cell", + "abnormal erythrocyte morphology", + "manus bone", + "radius bone", + "Abnormality of the hand", + "Anemia", + "abnormal shape of continuant", + "trunk", + "abnormal bone marrow cell", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", + "absent kidney", + "subdivision of skeletal system", + "abnormally decreased number of neutrophil", + "absent kidney in the independent continuant", + "forelimb zeugopod skeleton", + "forelimb zeugopod", + "abnormal testis morphology", + "Aplasia involving bones of the upper limbs", "eukaryotic cell", - "appendage", - "U-shaped kidney", - "material anatomical entity", - "material entity", - "reproduction", - "Decreased fertility in males", - "kinesthetic behavior", - "abnormal number of anatomical enitites of type myeloid cell", - "multicellular organism", - "kidney", + "abnormal limb long bone morphology", + "absent forelimb zeugopod bone", + "Pallor", + "abnormal bone of pectoral complex morphology", + "absent radius bone", + "abnormal behavior", + "radius endochondral element", + "abnormal radius bone morphology", + "Absent radius", + "aplastic forelimb zeugopod bone", + "abnormal size of skull", + "forelimb long bone", + "sensory perception of mechanical stimulus", + "abnormally decreased number of anatomical entity", + "skin of body", + "Abnormal upper limb bone morphology", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "3-D shape anatomical entity in independent continuant", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "abnormal cellular process", + "secretory cell", + "decreased size of the anatomical entity in the independent continuant", + "anucleate cell", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "Prolonged G2 phase of cell cycle", + "pectoral appendage skeleton", + "abnormal blood cell morphology", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "abnormal brain morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal programmed DNA elimination by chromosome breakage", + "specifically dependent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + "cellular organisms", + "Abnormal neutrophil count", + "obsolete multicellular organism reproduction", + "digit 1", + "abnormal platelet morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "Abnormality of globe size", + "abnormally decreased number of platelet", + "Abnormal platelet count", + "sensory perception", + "abnormal developmental process", + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "organelle organization", + "postcranial axial skeletal system", + "abnormal spermatogenesis", + "germ cell", + "abnormal internal genitalia", + "abnormal cell", + "disconnected anatomical group", + "male reproductive organ", + "internal genitalia", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "abnormal external male genitalia", + "haploid cell", + "abnormal gamete", "Reticulocytopenia", - "Opisthokonta", - "Abnormal myeloid leukocyte morphology", - "abnormal phenotype by ontology source", - "abnormal sensory perception of sound", - "abnormal testis morphology", - "reproductive system", - "abnormal location of anatomical entity", - "abnormal myeloid cell morphology", - "cognition", - "manus", + "interphase", + "semen", + "organism substance", + "Abnormal external genitalia", + "platelet", + "absent sperm in the independent continuant", + "male germ cell", + "abnormal granulocyte morphology", + "Azoospermia", + "male reproductive system", + "abnormal number of anatomical enitites of type sperm", + "manual digit", + "abnormal multicellular organismal reproductive process", + "anatomical entity", + "decreased qualitatively biological_process", + "testis", + "external male genitalia", + "regulation of macromolecule metabolic process", + "abnormal reproductive process", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", "male organism", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal forebrain morphology", - "Abnormal cell morphology", - "abnormally decreased number of leukocyte in the independent continuant" + "sperm", + "absent gamete", + "developmental process involved in reproduction", + "Abnormality of male external genitalia", + "abnormal male reproductive system morphology", + "Abnormal testis morphology", + "absent anatomical entity in the independent continuant", + "abnormally localised testis", + "reproductive process", + "shape kidney", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "developmental process", + "abnormal manual digit morphology in the manus", + "Abnormal internal genitalia", + "Abnormal reticulocyte morphology", + "decreased length of anatomical entity in independent continuant", + "manual digitopodium region", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "decreased length of digit", + "Short finger", + "skeleton of digitopodium", + "Short digit", + "anterior region of body", + "decreased length of manual digit 1" ], "has_phenotype_count": 34, "highlight": null, @@ -1718,21 +1718,24 @@ "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0000470", - "HP:0002575", - "HP:0040012", "HP:0007018", + "HP:0040012", "HP:0008551", + "HP:0000470", "HP:0009777", "HP:0004590", + "HP:0002575", "HP:0000238", - "HP:0000316", + "HP:0000369", + "HP:0000465", + "HP:0000957", + "HP:0002023", + "HP:0000582", "HP:0001510", + "HP:0000316", "HP:0001776", - "HP:0000369", "HP:0000347", "HP:0003974", - "HP:0000465", "HP:0001511", "HP:0009892", "HP:0000151", @@ -1745,32 +1748,32 @@ "HP:0000054", "HP:0000437", "HP:0001903", - "HP:0000957", "HP:0000122", - "HP:0002023", "HP:0002188", - "HP:0000582", "HP:0000568", "HP:0000431", "HP:0005528", "HP:0000089" ], "has_phenotype_label": [ - "Short neck", - "Tracheoesophageal fistula", - "Chromosome breakage", "Attention deficit hyperactivity disorder", + "Chromosome breakage", "Microtia", + "Short neck", "Absent thumb", "Hypoplastic sacrum", + "Tracheoesophageal fistula", "Hydrocephalus", - "Hypertelorism", + "Low-set ears", + "Webbed neck", + "Cafe-au-lait spot", + "Anal atresia", + "Upslanted palpebral fissure", "Growth delay", + "Hypertelorism", "Bilateral talipes equinovarus", - "Low-set ears", "Micrognathia", "Absent radius", - "Webbed neck", "Intrauterine growth retardation", "Anotia", "Aplasia of the uterus", @@ -1783,1801 +1786,1798 @@ "Micropenis", "Depressed nasal tip", "Anemia", - "Cafe-au-lait spot", "Unilateral renal agenesis", - "Anal atresia", "Delayed CNS myelination", - "Upslanted palpebral fissure", "Microphthalmia", "Wide nasal bridge", "Bone marrow hypocellularity", "Renal hypoplasia" ], "has_phenotype_closure": [ - "HP:0000089", - "UPHENO:0069110", "UPHENO:0081210", - 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"GO:0007399", + "GO:0032291", + "GO:0022008", "GO:0010001", - "GO:0021782", - "UPHENO:0083951", - "UPHENO:0000553", - "UPHENO:0062527", - "HP:0011400", "HP:0012448", - "UPHENO:0083952", - "HP:0032039", - "HP:0034915", - "UBERON:0001245", - "UBERON:0000161", - "HP:0004378", - "HP:0002023", - "UPHENO:0063599", - "HP:0000079", + "GO:0048869", + "UPHENO:0000552", + "UPHENO:0050372", + "UPHENO:0076779", + "UPHENO:0087427", + "GO:0030154", "UBERON:0002113", "UBERON:0011143", + "UBERON:0000916", + "UPHENO:0083952", "UBERON:8450002", - "UPHENO:0087427", - "UPHENO:0025100", + "HP:0000122", "UPHENO:0026980", - "HP:0000104", - "UBERON:0003100", - "HP:0001317", - "UPHENO:0002803", - "UPHENO:0075902", - "HP:0002032", - "HP:0008678", - "UBERON:0001008", - "UPHENO:0088047", - "GO:0060255", - "HP:0001000", - "UBERON:0002386", - "UPHENO:0080662", - "HP:0007400", - "HP:0000951", - "UBERON:0034925", - "GO:0032502", - "HP:0001034", - "UPHENO:0076739", - "HP:0011121", - "UPHENO:0002839", - "GO:0065007", - 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"UBERON:0000167", - "UBERON:0003606", - "HP:0000202", - "UBERON:0002416", - "CL:0000988", - "HP:0000953", - "HP:0000309", - "UBERON:0006717", - "CL:0000763", - "HP:0000163", - "NCBITaxon:131567", + "UPHENO:0033635", + "UBERON:0000464", + "HP:0000175", "UPHENO:0020013", - "UBERON:0011158", - "UBERON:0004733", - "UPHENO:0006147", - "UPHENO:0087585", - "HP:0011282", - "HP:0011283", - "UBERON:0002616", - "UPHENO:0080089", - "GO:0046483", + "NCBITaxon:6072", + "NCBITaxon:2759", + "UPHENO:0081601", "UBERON:0002028", - "HP:0006496", + "UBERON:0002037", + "UBERON:0001895", "NCBITaxon:33154", - "UPHENO:0087355", - "UBERON:0000481", - "HP:0011458", - "UPHENO:0041458", - "GO:0031052", - "HP:0000008", - "UPHENO:0087806", - "UBERON:0000020", - "UPHENO:0087547", - "UBERON:0004122", + "NCBITaxon:131567", + "UPHENO:0080089", + "HP:0002977", + "GO:0007417", + "UBERON:0004176", + "UBERON:0004733", + "UBERON:0004732", + "UPHENO:0076720", + "NCBITaxon:1", + "HP:0011283", + "UBERON:0000063", + 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"UBERON:0001684", - "UPHENO:0081566", + "UBERON:0004742", + "UPHENO:0083646", + "UPHENO:0081314", + "UBERON:0000489", + "UBERON:0010323", + "HP:0030791", + "UBERON:0007375", "UBERON:0012360", - "UPHENO:0080087", - "UPHENO:0081783", - "UBERON:0003134", - "UPHENO:0081784", - "HP:0001776", - "UBERON:0000978", - "HP:0005656", - "UBERON:0002037", - "UPHENO:0086628", - "HP:0001883", - "UPHENO:0050034", - "UPHENO:0084761", - "UPHENO:0003070", - "UBERON:0004053", - "HP:0001762", - "UBERON:0002387", - "NCBITaxon:6072", - "UBERON:0008340", + "HP:0000163", "UBERON:0002103", - "GO:0048731", - "HP:0001871", - "UBERON:0004732", - "HP:0001507", - "HP:0000078", - "GO:0040007", - "GO:0048856", - "UPHENO:0080585", - "UPHENO:0003055", - "UPHENO:0000541", - "HP:0001510", - "HP:0000271", - "UPHENO:0026023", + "HP:0000309", + "UBERON:0004375", + "HP:0002188", + "UPHENO:0033572", + "HP:0009815", + "UPHENO:0088186", + "UBERON:0000075", + "UPHENO:0002901", + "UPHENO:0080126", "UBERON:0004765", - "HP:0000929", 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"UBERON:0000072", "UPHENO:0084448", - "UBERON:0001463", - "UBERON:0000468", + "UBERON:0001245", + "UBERON:0012140", + "UBERON:0005473", + "UBERON:0000065", + "UBERON:0007811", + "HP:0012252", + "UPHENO:0081786", + "UBERON:0010913", + "UBERON:0001043", + "HP:0009777", + "UBERON:0004921", + "UPHENO:0080662", + "UPHENO:0075696", + "UBERON:0004908", + "HP:0005607", + "HP:0025031", + "HP:0000347", + "UBERON:0005409", + "UPHENO:0086700", + "UPHENO:0020748", + "UBERON:0003126", "HP:0000464", - "UBERON:0000467", - "HP:0002692", - "HP:0000357", - "UPHENO:0076803", - "UPHENO:0049874", - "PATO:0000001", - "BFO:0000040", - "UPHENO:0081466", - "UPHENO:0076703", - "UPHENO:0046505", - "UPHENO:0026628", - "UPHENO:0081314", - "HP:0040012", - "UBERON:0008907", - "UPHENO:0008593", - "UPHENO:0081786", - "RO:0002577", + "UBERON:0000915", + "UBERON:0005181", + "UBERON:0005944", + "UPHENO:0003020", + "UBERON:0004768", + "UPHENO:0081141", + "UPHENO:0069523", + "UPHENO:0002725", + "HP:0012718", + "UPHENO:0076766", + "UPHENO:0080300", + "UPHENO:0009382", + "UPHENO:0088047", + "UPHENO:0025945", + "UBERON:0006048", + "UPHENO:0021304", + "HP:0001574", + "HP:0000153", + "UBERON:0001359", + "HP:0000104", + "UPHENO:0082875", + "HP:0011355", + "UPHENO:0056212", + "UPHENO:0081598", + "UBERON:0000993", + "UBERON:0002102", + "UPHENO:0003811", + "UPHENO:0025211", + "UPHENO:0087548", + "UBERON:0000061", + "UBERON:0035639", + "GO:1901360", + "UPHENO:0056333", + "UBERON:0002616", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0001032", + "HP:0012443", + "UPHENO:0088185", + "UBERON:0002544", + "UBERON:0007779", + "GO:0021782", + "UPHENO:0087433", + "UBERON:0005358", + "UPHENO:0005597", + "UBERON:0005282", + "UPHENO:0069391", + "UBERON:0001017", + "UBERON:0001270", + "UBERON:0005281", + "UBERON:0000154", + "UPHENO:0088168", + "UBERON:0004451", + "UPHENO:0076805", + "UBERON:0000047", + "GO:0007275", "HP:0000924", - "UPHENO:0087643", - "UBERON:0001062" + "UBERON:0004121", + "UBERON:0000475", + "UPHENO:0076702", + "HP:0012759", + "HP:0007018", + "HP:0002118", + "HP:0006503", + "UBERON:0002104", + "UPHENO:0049367", + "HP:0000369", + "HP:0000118", + "UBERON:0000978", + "HP:0000465", + "UPHENO:0080221", + "BFO:0000001", + "UPHENO:0002635", + "HP:0001034", + "HP:0033127", + "HP:0007400", + "UBERON:0002416", + "UBERON:0000481", + "HP:0000957", + "HP:0011121", + "UPHENO:0076740", + "HP:0000953", + "UPHENO:0074589", + "UBERON:0003460", + "UPHENO:0080087", + "HP:0012733", + "HP:0000050", + "UPHENO:0054970", + "UPHENO:0026954", + "GO:0043473", + "HP:0004378", + "HP:0003319", + "UPHENO:0046505", + "UPHENO:0086644", + "UPHENO:0062527", + "UPHENO:0086824", + "UBERON:0000161", + "HP:0009380", + "UPHENO:0074228", + "GO:0006807", + "UPHENO:0002839", + "UPHENO:0087339", + "HP:0034915", + "HP:0006265", + "UPHENO:0078606", + "HP:0002023", + "UPHENO:0025100", + "HP:0000492", + "UPHENO:0076760", + "UBERON:0001691", + "UPHENO:0086595", + "UBERON:0034921", + "UBERON:0001004", + "HP:0000315", + "UPHENO:0002910", + "HP:0032039", + "HP:0000422", + "UPHENO:0086932", + "UPHENO:0086699", + "UBERON:0001819", + "HP:0010938", + "GO:0043170", + "HP:0008050", + "UPHENO:0003058", + "UBERON:0000025", + "UBERON:0004088", + "UBERON:0000970", + "UPHENO:0087472", + "UPHENO:0076761", + "HP:0000271", + "HP:0001510", + "HP:0001507", + "UPHENO:0049874", + "UBERON:5001463", + "UPHENO:0021474", + "UBERON:0000466", + "HP:0000478", + "UPHENO:0080158", + "UPHENO:0080196", + "UPHENO:0063599", + "UBERON:0010222", + "UPHENO:0087816", + "HP:0001762", + "UBERON:0010230", + "UPHENO:0002598", + "HP:0100886", + "HP:0011400", + "HP:0012372", + "OBI:0100026", + "UPHENO:0001072", + "UPHENO:0072195", + "HP:0002814", + "HP:0001776", + "HP:0005656", + "UPHENO:0081575", + "UBERON:0010709", + "HP:0000925", + "UBERON:0008784", + "UPHENO:0050008", + "HP:0006496", + "UPHENO:0003070", + "HP:0011458", + "HP:0002818", + "GO:0071840", + "HP:0002813", + "HP:0002921", + "HP:0000277", + "BFO:0000020", + "UBERON:0012354", + "UPHENO:0081566" ], "has_phenotype_closure_label": [ - "abnormal size of kidney", "decreased size of the kidney", + "tissue", + "Bone marrow hypocellularity", "bone marrow", - "Abnormality of multiple cell lineages in the bone marrow", - "bone marrow cell", - "abnormal bone marrow cell", "abnormal immune system", - "abnormal bone marrow cell morphology", - "Abnormality of the immune system", - "abnormal hematopoietic system morphology", - "increased width of anatomical entity", - "increased width of the anatomical entity in independent continuant", + "Abnormality of bone marrow cell morphology", + "bone cell", + "abnormal immune system morphology", "abnormal snout morphology", - "nasal bridge", - "abnormal size of eyeball of camera-type eye", - "Aplasia/Hypoplasia affecting the eye", + "increased width of nasal bridge", + "snout", + "increased width of the anatomical entity in independent continuant", + "abnormal nasal bridge morphology", + "increased width of anatomical entity", "Abnormality of globe size", - "Abnormal ocular adnexa morphology", - "Abnormality of the palpebral fissures", - "Upslanted palpebral fissure", - "Abnormality of the ocular adnexa", - "Slanting of the palpebral fissure", - "abnormal ocular adnexa morphology", - "palpebral fissure", - "multi organ part structure", + "Aplasia/Hypoplasia affecting the eye", + "abnormal biological_process in central nervous system", + "central nervous system myelination", + "gliogenesis", + "decreased size of the eyeball of camera-type eye", + "oligodendrocyte differentiation", + "oligodendrocyte development", + "nervous system development", + "glial cell differentiation", + "cellular developmental process", + "abnormal myelination in independent continuant", "abnormal central nervous system myelination in independent continuant", - "Delayed myelination", - "ocular adnexa", + "delayed central nervous system myelination", + "Abnormal myelination", + "abnormal hematopoietic system morphology", "system development", "axon ensheathment", - "cell development", - "Abnormal myelination", - "myelination", - "glial cell differentiation", - "glial cell development", - "abnormal myelination in independent continuant", - "ensheathment of neurons", - "cellular developmental process", - "delayed biological_process in independent continuant", - "delayed biological_process in central nervous system", - "snout", - "abnormal myelination", - "Abnormal CNS myelination", - "oligodendrocyte differentiation", - "abnormal central nervous system myelination", - "abnormal anus morphology", - "abnormal anus", - "Anal atresia", - "anus atresia", - "renal system", + "abnormal axon ensheathment in central nervous system in independent continuant", + "absent anatomical entity in the renal system", + "abnormal kidney morphology", "cavitated compound organ", - "Intrauterine growth retardation", - "abdomen", - "abnormal kidney", - "excretory system", "abnormal renal system", - "Cleft palate", + "abdomen element", + "Abnormality of the kidney", "Abnormality of the upper urinary tract", - "respiratory airway", - "kidney", + "renal system", "absent kidney", - "abnormal kidney morphology", - "integument", - "Esophageal atresia", - "pigmentation", - "Bone marrow hypocellularity", - "Hypermelanotic macule", - "lower respiratory tract", - "abnormal pigmentation", - "increased pigmentation in independent continuant", - "increased biological_process in independent continuant", - "Cafe-au-lait spot", - "abnormal craniocervical region morphology", - "abnormal integument", - "intromittent organ", - "Abnormality of skin pigmentation", - "Abnormal oral morphology", - "abnormal skin of body morphology", - "hemolymphoid system", - "Localized skin lesion", - "erythroid lineage cell", + "excretory system", + "abnormal upper urinary tract", + "abnormal cell morphology", "hematopoietic system", - "Abnormal respiratory system physiology", - "absent anatomical entity in the renal system", - "increased pigmentation", - "abnormal hematopoietic system", - "nervous system", - "Abnormal myeloid cell morphology", + "abnormal myeloid cell morphology", + "Abnormal erythroid lineage cell morphology", "myeloid cell", + "abnormal erythrocyte morphology", "oxygen accumulating cell", "hematopoietic cell", - "Anemia", - "abnormal erythroid lineage cell morphology", - "thoracic cavity element", - "Abnormal cell morphology", - "abnormal bone marrow morphology", - "Abnormal axial skeleton morphology", - "external nose", - "Abnormality of blood and blood-forming tissues", - "flat anatomical entity in independent continuant", - "pectoral appendage", - "abnormal incomplete closing of the anatomical entity", - "Depressed nasal tip", - "abnormal nose morphology", - "Abnormal external nose morphology", + "abnormal hematopoietic system", + "olfactory organ", "curvature anatomical entity", - "Abnormal morphology of female internal genitalia", - "curvature anatomical entity in independent continuant", - "flat anatomical entity", - "orifice", + "abnormal size of eyeball of camera-type eye", + "nose tip", "Abnormality of the nose", - "abnormal penis", + "flattened anatomical entity in independent continuant", + "nose", + "flat nose tip", + "Abnormal external nose morphology", + "abnormal nose morphology", + "Abnormal nasal tip morphology", + "Hypoplasia of penis", "abnormal male reproductive system morphology", - "Micropenis", + "Abnormality of male external genitalia", "External genital hypoplasia", - "abnormal male reproductive system", - "decreased size of the penis", - "abnormal palpebral fissure", - "Abnormality of the male genitalia", - "external genitalia", - "male organism", - "abnormal male reproductive organ morphology", - "external male genitalia hypoplasia", + "Abnormal penis morphology", "external male genitalia", + "Abnormal external genitalia", + "abnormal penis", + "male reproductive system", + "Abnormal renal morphology", "abnormal external genitalia", - "Abnormality of the genitourinary system", - "nose", - "Abnormality of the kidney", - "limb segment", - "Abnormality of male external genitalia", - "absent anatomical entity", - "roof of mouth", + "decreased size of the external male genitalia", "Orofacial cleft", - "abnormal roof of mouth morphology", "Abnormal oral cavity morphology", - "abnormal location of anatomical entity", "abnormal oral cavity morphology", - "penis", - "Abnormal midface morphology", - "Abnormal metencephalon morphology", + "abnormal midface morphology", + "anatomical cavity", + "Craniofacial cleft", + "abnormal incomplete closing of the secondary palate", + "abnormal roof of mouth morphology", "root", + "abnormal cerebellum morphology", + "segmental subdivision of nervous system", "hindbrain", - "Abnormality of the anus", + "external genitalia", + "cerebellum", "metencephalon", - "Opisthokonta", + "delayed myelination", + "abnormal hindbrain morphology", + "abnormal metencephalon morphology", + "Eumetazoa", + "Abnormal metencephalon morphology", "regional part of brain", - "paired limb/fin", + "cerebellum hypoplasia", + "Abnormal midface morphology", + "regional part of nervous system", + "abnormal external male genitalia", + "abnormal anatomical entity morphology in the brain", "Cerebellar hypoplasia", - "Abnormal cerebellum morphology", - "abnormal cerebellum morphology", - "absent radius bone in the independent continuant", - "Eukaryota", - "Abnormality of the skin", - "abnormal face morphology", - "abnormal metencephalon morphology", - "abnormal hindbrain morphology", "Feeding difficulties", "abnormality of digestive system physiology", - "Abnormality of digestive system physiology", - "manual digit 1 plus metapodial segment", - "Hydrocephalus", - "Unilateral renal agenesis", - "anatomical entity atresia", + "Esophageal atresia", "esophagus atresia", - "organ subunit", - "neurogenesis", - "subdivision of trunk", "Chromosomal breakage induced by crosslinking agents", - "anatomical point", - "leg", - "Global developmental delay", - "female reproductive system", - "abnormal ear morphology", - "Abnormal internal genitalia", - "abnormal anatomical entity morphology in the brain", - "abnormal internal female genitalia morphology", + "Neurodevelopmental abnormality", + "abnormal kidney", + "abnormal reproductive system", + "Aplasia of the uterus", + "female organism", + "reproductive structure", "aplasia or hypoplasia of uterus", - "absent anatomical entity in the reproductive system", - "absent uterus", - "genitourinary system", - "Abnormality of the uterus", - "abnormal programmed DNA elimination by chromosome breakage", - "organism substance", - "reproductive organ", + "bone marrow cell", + "internal female genitalia", + "Abdominal symptom", + "Abnormal reproductive system morphology", + "Wide nasal bridge", + "abnormal internal female genitalia morphology", + "abnormal female reproductive system", + "female reproductive system", + "Abnormal morphology of female internal genitalia", + "oviduct", + "erythrocyte", "subdivision of oviduct", + "abnormal uterus", + "genitourinary system", "internal genitalia", - "female organism", - "Abnormality of brain morphology", - "Hypoplasia of penis", + "aplasia or hypoplasia of eyeball of camera-type eye", + "uterus", "abnormal reproductive system morphology", - "Micrognathia", - "abnormal internal genitalia", - "Abnormality of the genital system", + "Abnormality of the uterus", + "abnormal biological_process in nervous system", "absent anatomical entity in the ear", - "Renal agenesis", - "agenesis of anatomical entity", "absent external ear in the head", "absent external ear", "Anotia", - "thoracic segment organ", - "limb bone", - "visual system", "absent anatomical entity in the head", - "absent external ear in the independent continuant", - "decreased embryo development", - "decreased biological_process", - "Abnormal external genitalia", - "absent manual digit", - "changed embryo development rate", - "oligodendrocyte development", - "developmental process", - "abnormal embryo development", + "Hypoplastic male external genitalia", "anatomical structure development", - "abnormal anatomical entity morphology", + "decreased developmental process", + "decreased qualitatively developmental process", + "decreased embryo development", + "abnormal genitourinary system", "changed developmental process rate", + "abnormal embryo development", + "Intrauterine growth retardation", + "changed embryo development rate", "multicellular organism development", - "decreased qualitatively biological_process", - "decreased developmental process", - "negative regulation of macromolecule biosynthetic process", - "ear", - "Webbed neck", + "abnormal secondary palate morphology", + "abnormal developmental process", + "Aplasia/Hypoplasia of the radius", + "Aplasia/hypoplasia involving forearm bones", + "zeugopod", + "abnormal forelimb zeugopod bone", + "absent radius bone in the forelimb", + "arm bone", + "forelimb long bone", "aplastic forelimb zeugopod bone", - "absent forelimb zeugopod bone", + "abnormal erythroid lineage cell morphology", + "Abnormal morphology of the radius", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "embryo development", + "abnormal radius bone morphology", + "Aplasia involving forearm bones", + "Aplasia involving bones of the extremities", + "limb long bone", "abnormal limb long bone morphology", - "abnormal forelimb zeugopod bone", - "non-connected functional system", + "Abnormality of the female genitalia", "abnormal forelimb zeugopod morphology", - "paired limb/fin skeleton", - "abnormal long bone morphology", + "delayed biological_process in central nervous system", "Abnormal forearm bone morphology", - "absent anatomical entity in the forelimb", - "absent radius bone", - "forelimb bone", - "limb long bone", - "Abnormal morphology of the radius", - "abnormal respiratory tube morphology", - "radius endochondral element", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal nervous system morphology", - "Abnormal hindbrain morphology", - "Abnormal upper limb bone morphology", - "increased biological_process", - "arm bone", - "Aplasia involving bones of the extremities", + "absent forelimb zeugopod bone", + "Aplasia involving bones of the upper limbs", + "Aplasia/Hypoplasia of the cerebellum", + "forelimb zeugopod", + "forelimb zeugopod skeleton", + "abnormal facial skeleton morphology", "abnormal nose", - "long bone", - "Abnormal forearm morphology", - "bone element hypoplasia in face", - "abnormal mandible morphology", + "Aplasia/Hypoplasia of the mandible", + "abnormal jaw skeleton morphology", + "blood cell", + "Abnormality of the genitourinary system", + "head bone", + "Hypoplastic facial bones", "primary subdivision of skull", - "forelimb long bone", + "abnormal hematopoietic cell morphology", "primary subdivision of cranial skeletal system", - "aplasia or hypoplasia of external ear", - "Abnormal skull morphology", - "ventricle of nervous system", - "abnormal biological_process in independent continuant", - "Abnormal penis morphology", - "Abnormality of the mouth", - "anatomical entity hypoplasia in face", + "cranial skeletal system", + "dermal bone", "jaw skeleton", - "abnormal digit", + "facial skeleton", + "immune system", "facial bone", - "zeugopodial skeleton", "mandible", - "face", - "decreased size of the external male genitalia", - "absent kidney in the independent continuant", - "abnormal renal system morphology", - "abnormal skull morphology", - "facial bone hypoplasia", - "regulation of macromolecule biosynthetic process", - "anatomical space", - "abnormal respiratory system", - "oral cavity", - "aplasia or hypoplasia of mandible", - "Abnormality of the skeletal system", - "head bone", - "dermal skeletal element", + "anatomical entity hypoplasia in face", + "Abnormality of the genital system", + "intramembranous bone", + "Aplasia/Hypoplasia involving bones of the skull", "aplasia or hypoplasia of skull", - "jaw region", - "neural crest-derived structure", - "facial skeleton", - "skull", - "Abnormal facial skeleton morphology", - "bone of craniocervical region", - "abnormal face", - "Hypoplastic male external genitalia", - "abnormal incomplete closing of the secondary palate", - "organ", - "bone of jaw", - "membrane bone", + "Renal hypoplasia", "bone of lower jaw", - "abnormal secondary palate morphology", - "Aplasia/Hypoplasia of facial bones", - "Macule", - "abnormal reproductive system", - "Hypoplastic facial bones", - "negative regulation of cellular metabolic process", - "Decreased anatomical entity position", - "cell differentiation", - "abnormal location of ear", - "Abnormal location of ears", + "mandible hypoplasia", + "flat anatomical entity in independent continuant", + "mouth", + "abnormal mandible morphology", + "abnormal mouth", + "abnormal bone marrow cell morphology", + "bone of free limb or fin", + "Absent thumb", + "abnormal autopod region morphology", + "subdivision of organism along appendicular axis", + "paired limb/fin", + "skeleton of lower jaw", + "abnormal digit morphology", + "multi-limb segment region", + "Abnormality of digestive system physiology", + "absent anatomical entity", + "Aplasia/hypoplasia involving bones of the extremities", + "Abnormality of limb bone morphology", + "regulation of cellular metabolic process", + "appendage", + "Abnormal digit morphology", + "cellular process", + "Aplasia/Hypoplasia of fingers", + "delayed biological_process in independent continuant", + "digitopodium region", + "Anemia", + "radius bone", + "Abnormality of the hand", + "decreased size of the external ear", + "agenesis of anatomical entity", + "cell development", + "skeleton of manus", + "Hypertelorism", + "pectoral appendage skeleton", + "abnormal manus morphology", + "Hyperactivity", + "digit 1", + "abnormal vertebral column", + "abnormal size of kidney", + "Renal hypoplasia/aplasia", + "trunk or cervical vertebra", + "abnormal female reproductive system morphology", + "digit 1 plus metapodial segment", + "abnormal skeletal system", + "skeleton of limb", + "Delayed myelination", + "Abnormality of skin pigmentation", + "shape nose tip", + "Abnormality of globe location", + "Aplasia/Hypoplasia involving the central nervous system", + "Short neck", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", + "abnormal DNA metabolic process", + "postcranial axial skeleton", + "vertebral column", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "paired limb/fin skeleton", + "cervical vertebra", + "organ system subdivision", + "Abnormality of the anus", + "system", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "skeletal element", + "anatomical collection", + "All", + "increased qualitatively biological_process", + "membrane bone", + "abnormal cervical vertebra", "dentary", - "abnormal location of external ear", - "hindlimb", - "central nervous system myelination", - "digit 1 or 5", - "Talipes equinovarus", - "abnormal head bone morphology", - "abnormal leg", + "bone of dorsum", + "external soft tissue zone", + "digit plus metapodial segment", + "bone element", + "skeleton", + "skeletal system", "cervical vertebra endochondral element", - "posterior region of body", - "pes", - "pelvic complex", - "decreased qualitatively developmental process", - "abnormal hindlimb morphology", - "Talipes", - "limb endochondral element", - "zeugopod", - "lower limb segment", - "gliogenesis", - "Abnormal jaw morphology", - "abnormal camera-type eye morphology", - "Bilateral talipes equinovarus", - "All", - "organism", - "Microtia", + "decreased length of neck", + "Abnormality of the eye", "abnormal pes morphology", - "Positional foot deformity", - "growth", - "Growth abnormality", - "delayed growth", - "Irregular hyperpigmentation", - "skeletal system", - "delayed biological_process", - "anatomical line between pupils", - "Aplasia/Hypoplasia involving the central nervous system", - "eye", - "orbital region", - "oviduct", + "Abnormality of the musculoskeletal system", + "abnormal skeletal system morphology", + "segment of manus", + "protein-containing material entity", + "dorsum", + "cervical region", + "Abnormality of the vertebral column", + "Macule", + "decreased length of anatomical entity in independent continuant", + "abnormal size of anatomical entity", + "abnormal bone marrow cell", "trunk", - "Abnormality of globe location", - "ventricular system of brain", - "Hypertelorism", - "Aplasia/Hypoplasia of the thumb", - "abnormal radius bone morphology", - "bone of appendage girdle complex", - "skeleton of lower jaw", - "increased length of the anatomical line between pupils", - "digit 1", - "upper jaw region", - "forelimb zeugopod skeleton", - "aplasia or hypoplasia of ear", - "anatomical line", - "abnormal mouth", - "abnormal pigmentation in independent continuant", - "abnormal eyeball of camera-type eye", - "changed biological_process rate in independent continuant", - "eyeball of camera-type eye", - "increased size of the anatomical entity", - "pelvic appendage", - "increased anatomical entity length in independent continuant", - "negative regulation of gene expression", - "Growth delay", - "abnormal location of eyeball of camera-type eye", - "Abnormality of the upper limb", - "embryo development", - "camera-type eye", - "abnormal forelimb morphology", - "simple eye", - "Abnormality of the eye", - "abnormal orbital region", - "Abnormal reproductive system morphology", - "Morphological central nervous system abnormality", - "organ component layer", - "forelimb zeugopod", - "abnormal brain ventricle morphology", - "cerebrospinal fluid", - "Abnormal cerebrospinal fluid morphology", - "Aplasia/Hypoplasia of the ear", - "brain ventricle", - "decreased size of the cerebellum", - "acropodium region", - "ventricular system of central nervous system", - "Abnormality of skin morphology", + "abnormal shape of continuant", + "nasal bridge", + "bone of pectoral complex", + "decreased length of anatomical entity", + "zeugopodial skeleton", + "abnormal cerebrospinal fluid morphology", + "Abnormal ear morphology", + "aplasia or hypoplasia of skeleton", + "organ", + "abnormal male reproductive organ morphology", + "occurrent", + "abnormal myelination", + "abnormal anatomical entity morphology in the pectoral complex", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "abnormal neck morphology", + "external male genitalia hypoplasia", "brain ventricle/choroid plexus", - "abnormal brain ventricle/choroid plexus morphology", - "abnormal upper urinary tract", - "Aplasia/Hypoplasia of the sacrum", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "axon ensheathment in central nervous system", - "aplasia or hypoplasia of fused sacrum", - "multicellular organism", - "abnormal limb morphology", - "abnormal fused sacrum morphology", - "abnormal esophagus morphology", - "sacral region", - "abnormal immune system morphology", - "decreased size of the mandible", - "abnormal biological_process in central nervous system", - "abnormal DNA metabolic process", - "abnormal chromatin organization", + "external ear", + "Aplasia/Hypoplasia of the ear", + "sensory system", + "Abnormality of the outer ear", + "multi-tissue structure", + "bodily fluid", + "manual digit", + "Abnormal eye morphology", + "abnormal head morphology", + "Abnormality of head or neck", + "Abnormality of the neck", + "abnormal external male genitalia morphology", + "abnormal vertebral column morphology", + "Microtia", + "absent digit", + "Abnormal cellular phenotype", + "radius endochondral element", + "abnormal behavior", + "obsolete cellular aromatic compound metabolic process", + "multicellular organismal process", + "Abnormal forearm morphology", + "vertebra", + "Abnormal skeletal morphology", "forelimb", "autopodial skeleton", - "postcranial axial skeletal system", - "continuant", - "pectoral complex", - "anatomical entity", - "regulation of macromolecule metabolic process", - "subdivision of digestive tract", - "aplastic manual digit 1", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the manus", - "biological regulation", - "Aplasia/hypoplasia involving the skeleton", - "mesoderm-derived structure", - "bodily fluid", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal cellular physiology", - "Aplasia/hypoplasia of the uterus", - "central nervous system", - "abnormal cellular metabolic process", - "Finger aplasia", - "Abnormality of the vertebral column", - "digitopodium region", - "anatomical wall", - "abnormal ear", - "digit 1 plus metapodial segment", - "regulation of biological process", - "digit", - "abdominal segment of trunk", - "abnormal limb", - "abnormal arm", - "skeleton", - "anatomical cavity", - "Absent thumb", - "abnormal female reproductive system morphology", - "Abnormal digit morphology", - "abnormal axon ensheathment in central nervous system in independent continuant", - "tube", - "Decreased external ear position", - "Neoplasm by anatomical site", + "Abnormal facial skeleton morphology", + "material anatomical entity", + "abnormal metabolic process", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "Eukaryota", + "negative regulation of cellular metabolic process", "aplasia or hypoplasia of manual digit", - "appendicular skeletal system", - "Abnormality of the hand", - "absent anatomical entity in the skeletal system", - "abnormal midface morphology", - "abnormal appendicular skeleton morphology", - "Abnormal foot morphology", - "aplasia or hypoplasia of vertebral column", - "eyelid", - "delayed myelination", + "face", + "abnormal orbital region", + "Reduced impulse control", + "abnormal location of external ear", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "craniocervical region", + "Abnormality of the gastrointestinal tract", + "Talipes", + "Webbed neck", + "quality", + "behavior process", + "aplasia or hypoplasia of ear", + "absent external ear in the independent continuant", + "regulation of cellular biosynthetic process", + "proximo-distal subdivision of respiratory tract", + "glial cell development", + "anatomical space", + "Abnormal hindbrain morphology", + "phenotype", + "manual digit 1", + "regulation of metabolic process", "autopodial extension", - "digit plus metapodial segment", - "erythrocyte", - "abnormal opening of the anatomical entity", - "abnormal limb bone morphology", - "abnormal metabolic process", - "abnormal brain morphology", - "Phenotypic abnormality", - "flat nose tip", - "abnormal limb bone", - "brain", + "abnormal face", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", "manual digitopodium region", - "manus", - "skeleton of pectoral complex", - "Abnormality of the integument", - "paired limb/fin segment", - "Renal hypoplasia/aplasia", - "abnormal cervical vertebra", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormal thumb morphology", - "Eumetazoa", + "Abnormal respiratory system morphology", + "cervical region of vertebral column", + "pelvic region element", + "protein-containing complex organization", + "Abnormality of the palpebral fissures", + "organic cyclic compound metabolic process", "segment of autopod", - "flattened anatomical entity", - "upper limb segment", - "regional part of nervous system", - "shape anatomical entity", - "organelle organization", - "abnormal head", - "Abnormality of the nervous system", - "respiratory tract", - "abnormal myeloid cell morphology", - "sacral region of vertebral column", - "obsolete cell", - "male reproductive organ", - "reproductive structure", - "manual digit 1 or 5", - "abnormal cerebrospinal fluid morphology", - "upper digestive tract", - "abnormal trachea morphology", - "abnormal hematopoietic cell morphology", - "bone element hypoplasia in independent continuant", - "Aplasia/hypoplasia of the extremities", - "internal female genitalia", - "aplasia or hypoplasia of skeleton", - "forelimb skeleton", - "arm", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "aplastic anatomical entity", - "subdivision of organism along appendicular axis", - "increased size of the anatomical entity in independent continuant", - "absent anatomical entity in the independent continuant", - "Abnormal palate morphology", - "Abnormality of limb bone morphology", + "anatomical line between pupils", + "independent continuant", + "pelvic complex", + "abnormal growth", + "abnormal anatomical entity", + "abnormal external nose morphology", + "absent radius bone in the independent continuant", + "neck bone", + "entire sense organ system", + "continuant", + "Abnormality of the immune system", + "Abnormal nervous system physiology", + "Abnormal axial skeleton morphology", + "obsolete heterocycle metabolic process", + "abnormal chromatin organization", + "Chromosome breakage", + "process", + "nucleic acid metabolic process", + "Abnormal myeloid cell morphology", + "leg", + "Atypical behavior", + "cellular metabolic process", + "simple eye", + "endochondral element", + "abnormal neck", + "abnormal brain ventricle morphology", + "subdivision of skeleton", + "endochondral bone", "female reproductive organ", + "long bone", + "material entity", + "negative regulation of biosynthetic process", + "decreased size of the penis", + "Abnormality of the lower limb", + "forelimb zeugopod bone", + "nervous system", + "negative regulation of biological process", + "biological_process", + "absent kidney in the independent continuant", + "subdivision of skeletal system", + "entity", + "abnormal nitrogen compound metabolic process", "abdominal segment element", - "absent digit", - "absent anatomical entity in the limb", - "male reproductive system", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", + "ensheathment of neurons", + "regulation of cellular process", + "posterior region of body", + "pes", + "aplasia or hypoplasia of external ear", + "Abnormal tracheobronchial morphology", + "Abnormal neck morphology", + "negative regulation of gene expression", "response to stimulus", - "forelimb endochondral element", - "organism subdivision", - "vestibulo-auditory system", - "Metazoa", - "Abnormal ear morphology", - "anatomical entity hypoplasia", - "Aplasia/hypoplasia involving bones of the hand", - "Hyperpigmentation of the skin", - "decreased size of the external ear", - "Abnormal hand morphology", - "abnormal external ear", - "Aplasia/Hypoplasia of fingers", - "abnormal uterus", - "abnormal shape of continuant", - "abnormal manual digit morphology in the manus", - "abnormal autopod region morphology", - "postcranial axial skeleton", - "abnormal erythrocyte morphology", - "trunk bone", - "subdivision of head", - "entire sense organ system", - "pelvic region of trunk", - "Abnormality of the outer ear", - "abnormal external ear morphology", - "abnormal biological_process in nervous system", - "abnormal cell morphology", - "secondary palate", - "absent radius bone in the forelimb", - "Aplasia/Hypoplasia of the external ear", - "delayed central nervous system myelination", - "disconnected anatomical group", - "increased qualitatively biological_process in independent continuant", - "Abnormal pinna morphology", - "external ear hypoplasia", - "absent kidney in the renal system", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormal nasal tip morphology", - "Abnormality of the face", - "cellular component organization or biogenesis", - "anus", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal digit morphology", - "structure with developmental contribution from neural crest", - "limb", - "lateral structure", - "quality", - "abnormal digestive system morphology", - "Abdominal symptom", - "increased length of the anatomical entity", - "shape anatomical entity in independent continuant", - "flattened anatomical entity in independent continuant", - "anatomical entity hypoplasia in independent continuant", - "organic substance metabolic process", - "segment of manus", - "intramembranous bone", - "skeleton of limb", - "abnormal facial skeleton morphology", - "abnormal response to stimulus", - "blood cell", - "anatomical conduit", + "regulation of macromolecule metabolic process", + "Abnormality of the digestive system", + "abnormal nervous system", + "chromatin organization", + "Reduced attention regulation", + "abnormal shape of external ear", + "abnormal limb bone morphology", + "abnormality of nervous system physiology", + "absent anatomical entity in the skeletal system", + "Abnormal cellular physiology", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "absent anatomical entity in the limb", + "Abnormal mandible morphology", + "trachea", + "Abnormality of the skeletal system", + "upper jaw region", + "Abnormality of the ocular adnexa", + "Micrognathia", + "Attention deficit hyperactivity disorder", + "abnormal leg", + "Cleft palate", "behavior", - "phenotype", - "Abnormality of the head", - "tissue", + "Abnormal appendicular skeleton morphology", + "Depressed nasal tip", "Abnormality of mental function", - "manual digit plus metapodial segment", + "intromittent organ", "obsolete cellular nitrogen compound metabolic process", - "abnormal nervous system", - "abnormality of anatomical entity physiology", - "Reduced impulse control", - "uterus", - "digestive system", - "Reduced attention regulation", - "abnormal head morphology", - "abnormal organelle organization", - "head", - "abnormal behavior process", - "changed biological_process rate", - "tracheobronchial tree", - "protein-containing material entity", - "subdivision of skeleton", - "bone cell", - "nervous system development", - "biological_process", - "abnormal craniocervical region", - "pelvic region element", - "subdivision of organism along main body axis", - "abnormal respiratory system morphology", - "abnormal eyelid morphology", - "regulation of gene expression", - "Craniofacial cleft", - "Abnormality of the female genitalia", + "postcranial axial skeletal system", + "organelle organization", + "metabolic process", + "Abnormal nasal bridge morphology", + "erythroid lineage cell", + "non-material anatomical boundary", + "midface", + "abnormal cellular component organization", + "abnormal trachea morphology", + "abnormal opening of the anatomical entity", + "dorsal region element", + "body proper", "abnormal primary metabolic process", + "neck", + "decreased size of the cerebellum", + "abnormal phenotype by ontology source", + "subdivision of vertebral column", + "decreased size of the mandible", + "absent manual digit", + "abnormal development of anatomical entity", + "Abnormal thumb morphology", + "subdivision of trunk", + "abnormal limb bone", + "sense organ", + "Abnormal nervous system morphology", + "limb", + "increased size of the anatomical entity", + "absent anatomical entity in the reproductive system", + "abnormal number of anatomical enitites of type anatomical entity", + "limb bone", + "negative regulation of macromolecule biosynthetic process", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "lateral structure", + "regulation of biological process", + "decreased qualitatively biological_process", + "anatomical entity", + "abnormal head bone morphology", + "Abnormal pinna morphology", + "dorsal part of neck", + "abnormal cellular process", + "acropodium region", + "abnormally increased number of brain ventricle in the independent continuant", + "Abnormal anus morphology", + "male reproductive organ", + "disconnected anatomical group", + "abnormal cell", + "secondary palate", + "organism", + "irregular bone", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "Renal agenesis", + "abnormal respiratory system", + "decreased size of the anatomical entity in the independent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + "specifically dependent continuant", + "abnormal programmed DNA elimination by chromosome breakage", + "programmed DNA elimination by chromosome breakage", + "cellular component organization or biogenesis", "kidney hypoplasia", - "Abnormality of the neck", - "abnormal female reproductive organ morphology", - "Abnormality of metabolism/homeostasis", - "regulation of metabolic process", - "abnormality of nervous system physiology", - "Aplasia/hypoplasia involving forearm bones", - "behavior process", - "non-material anatomical boundary", - "Abnormality of digestive system morphology", - "negative regulation of biological process", - "organic cyclic compound metabolic process", - "cranial skeletal system", - "Renal hypoplasia", - "abnormal vertebral column morphology", - "abnormal developmental process", - "bone of pectoral complex", - "macromolecule metabolic process", - "obsolete heterocycle metabolic process", - "Abnormal sacrum morphology", - "dermal skeleton", - "immaterial entity", - "obsolete cellular aromatic compound metabolic process", - "aplasia or hypoplasia of manual digit 1", - "mandible hypoplasia", - "abnormal shape of external ear", - "skeleton of manus", - "abnormal neck", + "abnormal craniocervical region morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "abnormal renal system morphology", + "alimentary part of gastrointestinal system", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", "obsolete nitrogen compound metabolic process", - "olfactory organ", - "abnormal ocular adnexa", - "abnormal cellular process", + "aplastic manual digit 1", + "Abnormal sacrum morphology", + "cellular component organization", + "neurogenesis", "regulation of biosynthetic process", - "penis hypoplasia", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "regulation of cellular metabolic process", - "irregular bone", - "nucleobase-containing compound metabolic process", - "negative regulation of metabolic process", - "abnormal genitourinary system", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal closing of the anatomical entity", - "protein-containing complex organization", - "Attention deficit hyperactivity disorder", + "absent anatomical entity in the independent continuant", + "digit", + "anterior region of body", + "aplastic anatomical entity", + "Abnormal nasal morphology", + "absent anatomical entity in the multicellular organism", + "thoracic cavity element", + "Growth abnormality", + "axial skeletal system", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "anatomical system", + "upper digestive tract", + "abnormal bone of pectoral complex morphology", + "absent radius bone", + "orifice", + "multicellular organism", + "regulation of macromolecule biosynthetic process", + "Abnormality of metabolism/homeostasis", + "abnormal ear morphology", + "cellular organisms", + "Decreased anatomical entity position", + "main body axis", + "Absent forearm bone", + "abnormal manual digit 1 morphology", + "eyelid", + "Abnormality of the ear", + "orbital region", + "protein-DNA complex organization", + "vestibulo-auditory system", + "non-connected functional system", + "Aplasia/hypoplasia of the extremities", + "forelimb bone", + "anatomical entity hypoplasia", + "head", + "abnormal eyelid morphology", + "manus", + "curvature anatomical entity in independent continuant", "negative regulation of cellular process", - "abnormal cellular component organization", - "programmed DNA elimination", + "abnormal limb", + "Abnormality of digestive system morphology", + "ear", + "organism subdivision", + "shape anatomical entity", + "ventricular system of brain", + "anatomical entity hypoplasia in independent continuant", + "abnormal central nervous system myelination", + "organ subunit", + "negative regulation of cellular biosynthetic process", "appendage girdle complex", - "abnormal anatomical entity topology in independent continuant", - "skin of body", - "multi-tissue structure", - "Aplasia/Hypoplasia of the mandible", - "abnormal biological_process", - "abnormal nitrogen compound metabolic process", - "radius bone", - "bone of dorsum", - "central nervous system development", - "bone element", - "abnormal cell", - "Aplasia of the uterus", - "Abnormal eyelid morphology", - "organ system subdivision", - "process", - "Abnormality of chromosome stability", - "abnormal neck morphology", + "subdivision of head", + "Abnormality of brain morphology", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "forelimb skeleton", + "abnormal anatomical entity morphology in the appendage girdle complex", + "pigmentation", + "dermal skeleton", + "aplasia or hypoplasia of manual digit 1", "Abnormality of limbs", - "regulation of cellular biosynthetic process", - "DNA metabolic process", - "abnormal jaw skeleton morphology", - "immaterial anatomical entity", - "endochondral element", - "negative regulation of macromolecule metabolic process", - "abnormal penis morphology", - "Neurodevelopmental abnormality", - "respiratory tube", - "pectoral appendage skeleton", - "abdomen element", - "Abnormality of the orbital region", - "vertebral column", - "Abnormal cellular phenotype", - "subdivision of tube", - "fused sacrum hypoplasia", - "ectoderm-derived structure", - "abnormality of respiratory system physiology", - "Abnormal anus morphology", - "sense organ", - "Abnormality of limb bone", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Aplasia/hypoplasia involving the skeleton", + "abnormal anatomical entity morphology in the manus", + "Finger aplasia", + "abdomen", + "manual digit 1 plus metapodial segment", + "trunk bone", + "bone of appendage girdle complex", + "anatomical wall", + "lower jaw region", + "abnormal digit", "thoracic segment of trunk", - "Aplasia/Hypoplasia involving the vertebral column", - "absent anatomical entity in the multicellular organism", - "increased biological_process in skin of body", - "abnormal growth", - "respiratory system", - "Aplasia/Hypoplasia of the radius", - "Atypical behavior", - "Abnormal eye morphology", - "Abnormality of head or neck", - "trachea", - "mouth", - "decreased size of the eyeball of camera-type eye", - "Abnormality of the digestive system", - "immune system", - "organ part", - "abnormal external male genitalia", - "digestive tract", - "decreased length of anatomical entity", - "Gastrointestinal atresia", - "abnormal tracheobronchial tree morphology", - "abnormal alimentary part of gastrointestinal system", - "midface", - "segmental subdivision of hindbrain", - "Abnormal tracheal morphology", - "Abnormality of the urinary system", - "Low-set ears", - "aplasia or hypoplasia of cerebellum", - "Abnormal nasal bridge morphology", - "Short attention span", - "aplasia or hypoplasia of eyeball of camera-type eye", - "independent continuant", + "abnormal arm", + "arm", + "limb segment", + "increased qualitatively biological_process in independent continuant", + "Aplasia/Hypoplasia of the thumb", + "dermatocranium", + "pectoral complex", + "paired limb/fin segment", + "axon ensheathment in central nervous system", + "compound organ", + "eye", + "cell differentiation", + "appendicular skeletal system", + "Abnormal palate morphology", + "skeleton of pectoral complex", + "appendicular skeleton", + "Unilateral renal agenesis", + "Abnormal cerebellum morphology", + "upper limb segment", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "developmental process", + "negative regulation of metabolic process", "abdominal segment bone", - "endoderm-derived structure", - "Abnormal respiratory system morphology", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Abnormal erythroid lineage cell morphology", + "manual digit 1 or 5", + "autopod region", + "Micropenis", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "Abnormality of chromosome stability", + "immaterial entity", + "anatomical conduit", + "abnormal limb morphology", + "mesoderm-derived structure", + "nucleobase-containing compound metabolic process", + "Short attention span", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "abnormal internal genitalia", + "aplasia or hypoplasia of vertebral column", + "reproductive system", + "sacral region", + "fused sacrum hypoplasia", + "abnormal fused sacrum morphology", + "Global developmental delay", + "biological regulation", + "abdominal segment of trunk", + "macromolecule metabolic process", + "pelvic region of trunk", + "palpebral fissure", + "bone element hypoplasia in independent continuant", + "abnormal penis morphology", + "hindlimb", + "aplasia or hypoplasia of fused sacrum", + "Aplasia/Hypoplasia of the sacrum", "Delayed CNS myelination", - "transudate", + "fused sacrum", + "abnormal craniocervical region", + "sacral region of vertebral column", + "Abnormal upper limb bone morphology", + "skin of body", + "bony pelvis", + "skull", + "limb skeleton subdivision", + "Aplasia/Hypoplasia involving the vertebral column", + "Aplasia/Hypoplasia of facial bones", + "musculoskeletal system", + "abnormal cellular metabolic process", + "Hypoplastic sacrum", + "abnormal organelle organization", + "abnormal respiratory system morphology", + "vertebral element", + "viscus", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "Neoplasm", "Tracheoesophageal fistula", - "Abnormality of the gastrointestinal tract", - "esophagus", - "Aplasia/Hypoplasia involving bones of the skull", - "abnormal digestive system", - "abnormal manus", - "anterior region of body", - "abnormal skeletal system", + "Abnormal jaw morphology", + "abnormal ear", + "Low-set ears", + "abnormal esophagus morphology", + "abnormal bone marrow morphology", + "flat anatomical entity", + "lower respiratory tract", + "abnormality of respiratory system physiology", + "abnormal pigmentation in independent continuant", + "abnormal respiratory tube morphology", + "Abnormal tracheal morphology", + "organ part", + "regulation of gene expression", + "pectoral appendage", + "respiratory system", + "obsolete cell", + "programmed DNA elimination", + "digestive system", + "subdivision of tube", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", "Abnormality of the respiratory system", - "dermal bone", - "proximo-distal subdivision of respiratory tract", - "reproductive system", + "Aplasia/Hypoplasia of the external ear", + "trunk region element", + "endoderm-derived structure", + "abnormal female reproductive organ morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "tracheobronchial tree", + "pelvic appendage", + "thoracic segment organ", "Abnormal esophagus morphology", - "increased pigmentation in skin of body", - "manual digit 1", - "cellular process", - "abnormal nasal bridge morphology", - "dorsal part of neck", - "integumental system", - "viscus", - "abnormal manual digit morphology in the independent continuant", + "abnormal tracheobronchial tree morphology", + "abnormal forelimb morphology", + "abnormal digestive system morphology", + "penis", "digestive system element", - "trunk or cervical vertebra", - "abnormal central nervous system morphology", - "increased width of nasal bridge", - "Abnormal renal morphology", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "increased qualitatively biological_process", - "Wide nasal bridge", - "abnormal alimentary part of gastrointestinal system morphology", - "Abnormal cerebral ventricle morphology", - "abnormal nervous system morphology", - "abnormal female reproductive system", + "kidney", + "abnormal biological_process", + "Growth delay", + "abnormal nose tip morphology", + "alimentary part of gastrointestinal system atresia", + "respiratory tract", + "respiratory tube", + "forelimb endochondral element", + "primary metabolic process", + "Abnormality of the skin", + "abnormal alimentary part of gastrointestinal system", + "oral cavity", "Morphological abnormality of the gastrointestinal tract", - "anatomical structure", - "abnormally increased number of anatomical entity in the independent continuant", - "external ear", - "occurrent", - "abnormal skeletal system morphology", - "anatomical collection", - "cerebellum", - "dorsal region element", - "nose tip", - "skeletal element", - "abnormal external male genitalia morphology", - "Abnormality of bone marrow cell morphology", + "Abnormal respiratory system physiology", + "tube", + "respiratory airway", + "digestive tract", + "central nervous system development", + "hemolymphoid system", + "esophagus", + "Abnormal location of ears", + "subdivision of digestive tract", + "delayed biological_process", "Abnormality of the cervical spine", - "body proper", - "external soft tissue zone", - "Abnormal skeletal morphology", - "vertebra", - "axial skeleton plus cranial skeleton", - "main body axis", - "manual digit", - "Abnormal erythrocyte morphology", - "Chromosome breakage", - "Abnormal neck morphology", - "lower jaw region", - "multi-limb segment region", - "abnormal vertebral column", - "abnormal anatomical entity", - "abnormal behavior", - "Aplasia/Hypoplasia of the cerebellum", - "primary metabolic process", - "multicellular organismal process", - "cellular component organization", - "shape nose tip", - "craniocervical region", - "programmed DNA elimination by chromosome breakage", - "neck", - "abnormal nose tip morphology", - "dorsum", - "Neoplasm", - "appendicular skeleton", - "abnormal skin of body", - "Microphthalmia", - "segmental subdivision of nervous system", - "autopod region", - "compound organ", - "abnormal bone of pectoral complex morphology", - "protein-DNA complex organization", - "fused sacrum", - "alimentary part of gastrointestinal system", - "Abnormality of the lower limb", - "bony pelvis", - "sensory system", - "chromatin organization", - "Hypoplastic sacrum", - "cervical vertebra", - "alimentary part of gastrointestinal system atresia", - "Abnormal mandible morphology", + "abnormal digestive system", + "cerebrospinal fluid", + "Abnormality of the head", + "organic substance metabolic process", + "abnormal pigmentation", + "Hydrocephalus", + "male organism", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "Abnormal cell morphology", + "lower limb segment", + "abnormal brain morphology", + "aplasia or hypoplasia of cerebellum", + "abnormally increased number of anatomical entity in the independent continuant", + "Abnormality of the urinary system", + "abnormal anus morphology", + "Morphological central nervous system abnormality", + "organ component layer", + "organism substance", + "Abnormality of limb bone", + "central nervous system", + "ventricular system of central nervous system", "abnormally increased number of anatomical entity", - "Aplasia/hypoplasia involving bones of the extremities", - "axial skeletal system", - "entity", - "Abnormal tracheobronchial morphology", - "specifically dependent continuant", - "abnormal development of anatomical entity", - "trunk region element", - "Abnormality of the musculoskeletal system", - "Abnormal nasal morphology", - "abnormal anatomical entity length", - "abnormal mouth morphology", - "decreased length of neck", - "negative regulation of cellular biosynthetic process", - "aplasia or hypoplasia of anatomical entity", - "forelimb zeugopod bone", - "anatomical system", - "bone of free limb or fin", + "abnormal central nervous system morphology", + "transudate", + "Cafe-au-lait spot", + "increased length of the anatomical entity", + "Absent radius", + "Abnormal cerebrospinal fluid morphology", + "myelination", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "abnormal nervous system morphology", + "bone of craniocervical region", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "Microphthalmia", + "abnormal external ear morphology", + "Positional foot deformity", + "external ear hypoplasia", + "abnormal brain ventricle/choroid plexus morphology", + "anatomical point", + "ventricle of nervous system", + "subdivision of organism along main body axis", + "dermal skeletal element", + "Gastrointestinal atresia", + "abnormal location of anatomical entity", + "abnormal location of ear", + "abnormal ocular adnexa", + "Decreased external ear position", + "abnormal anatomical entity topology in independent continuant", + "abnormal integument", + "brain ventricle", + "eyeball of camera-type eye", + "abnormal anatomical entity morphology", + "increased pigmentation", + "external nose", + "changed biological_process rate", + "increased biological_process in skin of body", + "abnormal external ear", + "increased biological_process", + "decreased size of the anatomical entity", + "abnormal biological_process in independent continuant", "Neurodevelopmental delay", - "decreased size of the anatomical entity in the independent continuant", - "Abnormal nervous system physiology", - "metabolic process", - "Hyperactivity", - "Aplasia involving forearm bones", - "cerebellum hypoplasia", - "Short neck", - "abnormal phenotype by ontology source", + "abnormal skin of body", + "increased size of the anatomical entity in independent continuant", + "Abnormality of the integument", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", + "integumental system", + "integument", + "changed biological_process rate in independent continuant", + "increased biological_process in independent continuant", + "abnormal skin of body morphology", + "neural crest-derived structure", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "abnormal hindlimb morphology", + "increased pigmentation in independent continuant", + "Abnormal oral morphology", + "abnormal response to stimulus", + "abnormal closing of the anatomical entity", + "abnormal anus", + "Abnormal CNS myelination", + "immaterial anatomical entity", + "penis hypoplasia", + "limb endochondral element", + "Anal atresia", + "visual system", + "Abnormal eyelid morphology", + "absent uterus", + "ectoderm-derived structure", + "Slanting of the palpebral fissure", + "increased length of the anatomical line between pupils", + "multi organ part structure", + "roof of mouth", + "Abnormality of the orbital region", + "camera-type eye", + "reproductive organ", + "abnormal skull morphology", + "anus atresia", + "abnormal palpebral fissure", + "Abnormal ocular adnexa morphology", + "manual digit plus metapodial segment", + "Upslanted palpebral fissure", + "ocular adnexa", + "Abnormality of the face", + "abnormal face morphology", "phenotype by ontology source", + "abnormal ocular adnexa morphology", + "delayed growth", + "increased anatomical entity length in independent continuant", + "abnormal eyeball of camera-type eye", + "anatomical line", + "abnormal location of eyeball of camera-type eye", + "absent kidney in the renal system", + "Hypermelanotic macule", + "Abnormal foot morphology", + "Talipes equinovarus", + "Aplasia/hypoplasia of the uterus", + "Hyperpigmentation of the skin", + "Bilateral talipes equinovarus", + "flattened anatomical entity", + "abnormal manus", + "bone element hypoplasia in face", + "segmental subdivision of hindbrain", + "digit 1 or 5", + "bone of jaw", + "facial bone hypoplasia", "cell", - "cellular metabolic process", - "dermatocranium", - "abnormal size of anatomical entity", - "appendage", - "subdivision of vertebral column", - "upper urinary tract", - "abnormally increased number of brain ventricle in the independent continuant", - "decreased length of anatomical entity in independent continuant", - "endochondral bone", - "cervical region of vertebral column", - "regulation of cellular process", - "decreased size of the anatomical entity", - "musculoskeletal system", - "material entity", - "subdivision of skeletal system", - "Absent radius", - "nucleic acid metabolic process", - "abnormal external nose morphology", - "abnormal postcranial axial skeleton morphology", - "vertebral element", - "Absent forearm bone", - "material anatomical entity", - "cervical region", - "Aplasia involving bones of the upper limbs", - "system", - "limb skeleton subdivision", - "abnormal manus morphology", - "neck bone", - "Abnormality of the ear", - "negative regulation of biosynthetic process", - "cellular organisms", - "aplasia or hypoplasia of radius bone" + "Abnormality of the mouth", + "anus", + "Abnormal skull morphology", + "aplasia or hypoplasia of mandible", + "abnormal head", + "jaw region", + "abnormal male reproductive system", + "abnormal mouth morphology" ], "has_phenotype_count": 36, "highlight": null, @@ -3618,15 +3618,14 @@ "iri": null, "namespace": "MONDO", "has_phenotype": [ + "HP:0000086", "HP:0001875", + "HP:0009777", "HP:0001249", - "HP:0000086", "HP:0000252", - "HP:0000953", - "HP:0000081", - "HP:0003214", + "HP:0001627", + "HP:0000957", "HP:0000815", - "HP:0009777", "HP:0000104", "HP:0001017", "HP:0001876", @@ -3641,26 +3640,26 @@ "HP:0003221", "HP:0009943", "HP:0000978", - "HP:0001627", - "HP:0000957", + "HP:0000953", "HP:0001903", "HP:0001909", + "HP:0000081", "HP:0004322", "HP:0000486", "HP:0000365", + "HP:0003214", "HP:0003213", "HP:0000085" ], "has_phenotype_label": [ + "Ectopic kidney", "Neutropenia", + "Absent thumb", "Intellectual disability", - "Ectopic kidney", "Microcephaly", - "Hyperpigmentation of the skin", - "Duplicated collecting system", - "Prolonged G2 phase of cell cycle", + "Abnormal heart morphology", + "Cafe-au-lait spot", "Hypergonadotropic hypogonadism", - "Absent thumb", "Renal agenesis", "Anemic pallor", "Pancytopenia", @@ -3675,1609 +3674,1610 @@ "Chromosomal breakage induced by crosslinking agents", "Complete duplication of thumb phalanx", "Bruising susceptibility", - "Abnormal heart morphology", - "Cafe-au-lait spot", + "Hyperpigmentation of the skin", "Anemia", "Leukemia", + "Duplicated collecting system", "Short stature", "Strabismus", "Hearing impairment", + "Prolonged G2 phase of cell cycle", "Deficient excision of UV-induced pyrimidine dimers in DNA", "Horseshoe kidney" ], "has_phenotype_closure": [ - "UPHENO:0041075", - "UPHENO:0041465", + "UPHENO:0041226", + "HP:0000085", + "UPHENO:0082444", "UPHENO:0082129", "UPHENO:0041629", + "UPHENO:0041465", "HP:0003254", + "HP:0003213", + "UPHENO:0049964", + "UPHENO:0051124", "GO:0051716", - "UPHENO:0049671", - "GO:0006974", + "GO:0006950", + "GO:0051319", + "GO:0007049", + "GO:0050954", + "UPHENO:0041075", + "GO:0007600", + "HP:0000598", + "GO:0007605", + "UPHENO:0050625", "HP:0000364", + "UPHENO:0005518", "UPHENO:0052970", "UBERON:0002105", - "UPHENO:0005518", - "UPHENO:0002240", - "UBERON:0000015", - "UPHENO:0080300", - "UPHENO:0079826", + "NBO:0000338", "UPHENO:0049586", - "HP:0000496", + "HP:0000708", + "UPHENO:0049622", + "GO:0007610", + "HP:0000486", + "UBERON:0006800", "BFO:0000141", - "NBO:0000001", - "NBO:0000338", + "HP:0000549", + "HP:0000496", + "NBO:0000444", + "UBERON:0010222", 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"GO:0019953", + "HP:0001172", + "UBERON:0011676", + "HP:0002973", + "HP:0000025", + "HP:0001510", + "UPHENO:0086023", + "UBERON:0004288", + "UPHENO:0002830", + "UBERON:0015228", + "CL:0000015", + "UPHENO:0076941", + "UPHENO:0002764", + "UPHENO:0002597", + "UBERON:0011216", + "UBERON:0004175", + "UBERON:0004176", + "UPHENO:0076799", + "HP:0000119", + "UPHENO:0081511", + "HP:0008669", + "HP:0000035", + "HP:0004322", + "UPHENO:0087973", + "UPHENO:0086198", + "UPHENO:0079826", + "UBERON:0004122", + "UPHENO:0002595", + "CL:0000413", + "CL:0000039", + "UPHENO:0086635", + "HP:0000240", + "HP:0000812", + "UBERON:0015021", + "UBERON:0002386", + "UPHENO:0002332", + "HP:0012874", + "UPHENO:0041821", + "HP:0009825", + "UPHENO:0052778", + "GO:0050877", + "HP:0011927", + "UBERON:0015063", + "UPHENO:0078729", "UBERON:0000463", - "CL:0000225", - "UPHENO:0001003" + "UPHENO:0078452", + "UPHENO:0053298", + "HP:0001249", + "UBERON:0001968", + "GO:0048609", + "HP:0003953", + "UBERON:0000473", + "UPHENO:0086005", + "UBERON:0004053", + "UBERON:0000955", + "UBERON:0010703", + "UBERON:0010912", + "CL:0000094", + "HP:0040072", + "UPHENO:0086956", + "GO:0071840", + "HP:0002813", + "HP:0002818", + "UPHENO:0079872", + "UPHENO:0009341", + "GO:0006725", + "UPHENO:0087501", + "UBERON:0013702", + "UPHENO:0080187", + "UBERON:0002405", + "UPHENO:0021561", + "UBERON:0003606", + "UBERON:0002104", + "HP:0006503", + "HP:0009142", + "UBERON:0004535", + "UPHENO:0002751", + "UBERON:0002495", + "UBERON:0001423", + "UBERON:0010741", + "UPHENO:0069254", + "UBERON:0000949", + "UBERON:0003466", + "HP:0001911", + "UBERON:0006048", + "UPHENO:0025945", + "UPHENO:0005651", + "UPHENO:0076718", + "HP:0040070", + "UPHENO:0008668", + "UPHENO:0068971", + "UPHENO:0046411", + "HP:0004325", + "UPHENO:0031839" ], "has_phenotype_closure_label": [ - "abnormal shape of continuant", - "concave 3-D shape anatomical entity", + "shape anatomical entity", "Horseshoe kidney", "3-D shape anatomical entity", - "shape anatomical entity in independent continuant", - "abnormal DNA damage response", - "DNA damage response", + "U-shaped anatomical entity", + "DNA repair", "Deficient excision of UV-induced pyrimidine dimers in DNA", - "cellular response to stimulus", - "Abnormality of DNA repair", - "decreased sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "Abnormal ear physiology", - "Abnormality of the ear", - "abnormality of ear physiology", + "abnormal response to stress", + "abnormal cellular response to stress", "abnormal DNA repair", + "response to stress", + "cell cycle phase", + "Abnormality of the cell cycle", + "G2 phase", + "decreased qualitatively sensory perception of mechanical stimulus", + "decreased sensory perception of sound", + "abnormal ear", + "abnormal sensory perception", "Hearing abnormality", - "non-material anatomical boundary", - "abnormal behavior", - "response to stimulus", - "eye movement", + "ear", + "sensory perception of sound", + "body part movement", + "concave 3-D shape anatomical entity", + "Abnormality of eye movement", "anatomical line", + "immaterial anatomical entity", + "Strabismus", "abnormal response to stimulus", - "Abnormality of eye movement", - "Abnormal eye physiology", - "abnormality of camera-type eye physiology", - "abnormal behavior process", - "abnormal size of multicellular organism", - "decreased height of the anatomical entity", - "decreased size of the multicellular organism", - "abnormality of anatomical entity height", - "delayed growth", - "Growth delay", + "response to stimulus", + "behavior process", + "abnormal eye movement", + "eye movement", + "behavior", + "delayed biological_process", + "Short stature", "Abnormality of body height", + "abnormal DNA damage response", + "delayed growth", + "abnormal size of multicellular organism", "decreased height of the multicellular organism", "abnormality of multicellular organism height", - "ear", - "Neoplasm by anatomical site", - "delayed biological_process", - "Irregular hyperpigmentation", - "Hypermelanotic macule", - "abnormal response to stress", - "Cafe-au-lait spot", - "Localized skin lesion", - "Strabismus", - "circulatory organ", - "thoracic segment organ", - "heart plus pericardium", - "Abnormality of cardiovascular system morphology", - "primary circulatory organ", - "vasculature", - "cardiovascular system", + "Neoplasm", + "Hematological neoplasm", + "Generalized abnormality of skin", "Internal hemorrhage", - "thoracic segment of trunk", - "vascular system", - "abnormality of cardiovascular system physiology", "Abnormality of the vasculature", - "Abnormal cardiovascular system physiology", - "abnormal cardiovascular system", - "circulatory system process", - "Complete duplication of phalanx of hand", - "Duplication of hand bones", - "manual digit digitopodial skeleton", - "skeleton of manual acropodium", - "Abnormal long bone morphology", + "blood circulation", + "Vascular skin abnormality", + "Abnormality of blood circulation", + "vasculature", + "abnormality of cardiovascular system physiology", + "Abnormal bleeding", + "Bruising susceptibility", + "Subcutaneous hemorrhage", + "vascular system", + "abnormal anatomical entity morphology in the skeleton of manus", "Abnormality of thumb phalanx", - "Abnormal finger phalanx morphology", - "sensory perception of sound", - "abnormal phalanx of manus morphology", + "manual digitopodium bone", + "Duplication of bones involving the upper extremities", "phalanx", - "digitopodium bone", - "U-shaped anatomical entity", - "manual digit 1 phalanx endochondral element", + "phalanx endochondral element", + "manual digit phalanx endochondral element", + "abnormal phalanx morphology", + "abnormal phalanx of manus morphology", "Duplication of phalanx of hand", - "individual digit of digitopodial skeleton", - "Duplication of thumb phalanx", - "biological regulation", + "acropodial skeleton", + "manual digit bone", + "digit 1 digitopodial skeleton", + "manual digit digitopodial skeleton", + "digitopodium bone", + "skeleton of manual acropodium", "abnormal primary metabolic process", - "Leukemia", - "Chromosomal breakage induced by crosslinking agents", - "organic substance metabolic process", - "regulation of cellular process", - "regulation of metabolic process", - "Vascular skin abnormality", - "negative regulation of biological process", - "Generalized abnormality of skin", + "Abnormality of metabolism/homeostasis", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "vestibulo-auditory system", + "protein-DNA complex organization", + "Abnormality of DNA repair", + "abnormal organelle organization", + "regulation of biosynthetic process", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process", + "protein-containing complex organization", + "regulation of biological process", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", + "abnormal cellular component organization", + "Chromosome breakage", + "negative regulation of gene expression", + "abnormal metabolic process", + "cellular response to stimulus", + "Chromosomal breakage induced by crosslinking agents", + "metabolic process", + "cellular process", + "abnormal DNA metabolic process", + "decreased height of the anatomical entity", + "regulation of cellular process", + "negative regulation of biological process", "nucleobase-containing compound metabolic process", "organic cyclic compound metabolic process", + "Duplicated collecting system", + "macromolecule metabolic process", "obsolete heterocycle metabolic process", - "immaterial entity", "obsolete cellular aromatic compound metabolic process", "obsolete cellular nitrogen compound metabolic process", - "response to stress", "cellular component organization", - "regulation of biosynthetic process", - "regulation of cellular metabolic process", - "negative regulation of cellular process", - "organelle organization", - "regulation of gene expression", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", "negative regulation of macromolecule biosynthetic process", "negative regulation of cellular biosynthetic process", - "programmed DNA elimination", - "cellular metabolic process", - "negative regulation of gene expression", - "Chromosome breakage", - "regulation of cellular biosynthetic process", - "negative regulation of biosynthetic process", - "negative regulation of macromolecule metabolic process", - "negative regulation of cellular metabolic process", - "DNA metabolic process", - "decreased multicellular organism mass", - "growth", - "Hearing impairment", - "Decreased body weight", - "Small for gestational age", - "Decreased multicellular organism mass", - "visual system", - "manual digit 1 phalanx", "chromatin organization", + "abnormal chromatin organization", + "abnormal growth", + "Decreased multicellular organism mass", + "abnormality of multicellular organism mass", + "abnormal cell cycle", + "Duplication of thumb phalanx", + "abnormality of anatomical entity mass", + "decreased anatomical entity mass", + "abnormal size of eyeball of camera-type eye", + "abnormal face morphology", + "Abnormal eye morphology", + "abnormal orbital region", + "Abnormality of the face", + "simple eye", "sensory system", - "eye", - "face", - "orbital region", - "Aplasia/Hypoplasia affecting the eye", - "Microphthalmia", - "subdivision of head", - "entire sense organ system", + "Abnormality of the eye", + "abnormal face", + "sense organ", + "eyeball of camera-type eye", "camera-type eye", - "negative regulation of metabolic process", + "Microphthalmia", + "orbital region", + "Abnormality of the orbital region", + "abnormal eyeball of camera-type eye", "abnormal camera-type eye morphology", - "Abnormality of globe size", - "Abnormality of the eye", - "primary metabolic process", - "abnormal enucleated reticulocyte morphology", - "abnormal vasculature", - "Abnormal reticulocyte morphology", - "Complete duplication of thumb phalanx", - "abnormal number of anatomical enitites of type reticulocyte", - "anatomical line between pupils", + "decreased size of the eyeball of camera-type eye", + "visual system", "abnormally decreased number of reticulocyte", - "Short finger", - "decreased size of the anatomical entity in the pectoral complex", - "Neurodevelopmental delay", - "decreased size of the anatomical entity in the independent continuant", - "decreased length of manual digit", - "sensory perception", - "decreased length of anatomical entity", - "decreased length of manual digit 1", - "Short digit", - "autopod endochondral element", - "autopod bone", - "phalanx of manus", - "decreased length of anatomical entity in independent continuant", - "decreased length of digit", - "decreased size of the anatomical entity", - "aplastic forelimb zeugopod bone", - "absent forelimb zeugopod bone", - "sensory perception of mechanical stimulus", - "Aplasia involving forearm bones", - "abnormal limb long bone morphology", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "abnormal forelimb zeugopod bone", - "body part movement", - "absent radius bone in the forelimb", - "manual digit 1 digitopodial skeleton", - "abnormal forelimb zeugopod morphology", - "abnormal long bone morphology", - "Abnormal forearm bone morphology", - "behavior process", - "Aplasia/hypoplasia involving forearm bones", - "absent radius bone in the independent continuant", - "absent radius bone", - "zeugopod", - "macromolecule metabolic process", - "bone of pectoral complex", - "Atypical behavior", + "reticulocyte", + "multicellular organismal reproductive process", + "Non-obstructive azoospermia", + "axial skeleton plus cranial skeleton", + "abnormality of anatomical entity physiology", + "abnormal hematopoietic system morphology", + "Abnormality of mental function", + "abnormal cardiovascular system morphology", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "Duplication of hand bones", + "abnormal nitrogen compound metabolic process", + "nervous system process", + "system process", + "abnormal limb morphology", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "organ", + "cellular response to stress", + "appendicular skeleton", + "upper limb segment", + "appendicular skeletal system", + "arm", + "endochondral bone", + "subdivision of skeleton", + "Abnormal cardiovascular system physiology", "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "abnormal bone of pectoral complex morphology", - "Abnormal upper limb bone morphology", - "arm bone", - "forelimb long bone", - "radius bone", + "entity", + "negative regulation of cellular process", + "abnormal limb", + "manus", + "head", + "abnormal digit", + "thoracic segment of trunk", + "Abnormal appendicular skeleton morphology", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "system", + "aplasia or hypoplasia of manual digit 1", + "bone of appendage girdle complex", + "Abnormal finger phalanx morphology", + "pigmentation", + "genitourinary system", + "decreased qualitatively reproductive process", + "abnormal limb bone morphology", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal number of anatomical enitites of type granulocyte", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "autopodial skeleton", + "occurrent", + "abnormal male reproductive organ morphology", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "abnormal autopod region morphology", + "Absent thumb", + "paired limb/fin skeleton", + "Neurodevelopmental abnormality", + "subdivision of organism along appendicular axis", + "Abnormal male reproductive system physiology", + "digit plus metapodial segment", + "Cognitive impairment", + "abnormal male reproductive system", + "paired limb/fin", + "anatomical collection", + "All", + "increased qualitatively biological_process", "Aplasia involving bones of the extremities", - "long bone", - "Absent forearm bone", - "abnormal number of anatomical enitites of type sperm", - "abnormality of male reproductive system physiology", - "gamete", - "semen", - "developmental process", - "reproduction", - "Abnormal internal genitalia", - "Abnormal testis morphology", - "developmental process involved in reproduction", - "multicellular organismal reproductive process", - "abnormal reproductive process", - "decreased qualitatively developmental process", - "absent anatomical entity in the semen", - "gamete generation", - "abnormal male reproductive system morphology", - "spermatogenesis", - "absent sperm", - "zeugopodial skeleton", + "forelimb", + "Abnormal forebrain morphology", + "abnormal digit morphology", + "abnormal manus", + "multi-limb segment region", + "endochondral element", + "bone element", + "Abnormality of the ear", + "abnormally decreased number of leukocyte", + "digit", + "Hyperpigmentation of the skin", + "manual digit plus metapodial segment", + "abnormal skeletal system", + "digit 1 plus metapodial segment", + "limb", + "Neoplasm by anatomical site", + "Decreased anatomical entity mass", + "Abnormality of the upper limb", + "cell", + "absent anatomical entity in the renal system", + "skeleton", "male gamete generation", - "abnormally localised testis", - "Global developmental delay", - "abnormal multicellular organismal reproductive process", - "absent gamete", - "manual digit bone", - "decreased spermatogenesis", - "abnormal male reproductive system", - "decreased qualitatively sensory perception of sound", - "absent sperm in the semen", - "obsolete multicellular organism reproduction", - "Azoospermia", - "Abnormality of the male genitalia", - "sperm", - "external genitalia", - "anatomical cluster", - "internal genitalia", - "abnormal reproductive system morphology", - "decreased qualitatively biological_process", - "Abnormal spermatogenesis", - "vestibulo-auditory system", - "forelimb endochondral element", - "absent germ cell", - "abnormal internal genitalia", - "external male genitalia", - "abnormal external male genitalia", - "decreased qualitatively reproductive process", - "decreased developmental process", - "abnormal developmental process", - "abnormality of internal male genitalia physiology", - "abnormal gamete generation", - "abnormal heart morphology", - "abnormal external genitalia", - "abnormal developmental process involved in reproduction", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "abnormal orbital region", - "bone marrow cell", - "obsolete nitrogen compound metabolic process", - "platelet", - "biogenic amine secreting cell", - "Short thumb", - "germ line cell", - "bone cell", - "sexual reproduction", - "anucleate cell", - "abnormal male reproductive organ morphology", - "bone marrow", - "secretory cell", - "manual digit phalanx endochondral element", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", - "abnormal bone marrow cell morphology", - "Abnormality of bone marrow cell morphology", - "decreased biological_process", - "serotonin secreting cell", - "forelimb bone", - "Abnormality of thrombocytes", - "abnormal platelet", - "Anemia", - "tissue", - "abnormal erythroid lineage cell morphology", - "nucleic acid metabolic process", - "Absent radius", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "absent kidney in the renal system", - "absent kidney", - "abnormal DNA metabolic process", - "abnormal chromatin organization", - "forelimb", - "abnormal anatomical entity morphology in the skeleton of manus", - "autopodial skeleton", - "abnormal blood circulation", - "Abnormal morphology of the radius", - "bone of free limb or fin", - "abnormal anatomical entity", - "motile cell", - "paired limb/fin", - "abnormal anatomical entity morphology in the manus", - "pectoral appendage", - "abnormal anatomical entity morphology in the pectoral complex", - "central nervous system", "absent anatomical entity", - "abnormal manus", - "Finger aplasia", - "digitopodium region", - "multi-limb segment region", - "trunk", - "digit 1 plus metapodial segment", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "male reproductive system", - "abnormal cell morphology", - "limb bone", - "abnormal arm", - "Abnormality of skull size", + "regulation of metabolic process", + "Decreased body weight", + "autopodial extension", + "manual digit 1", + "abnormal immune system morphology", + "skeletal system", + "motile cell", + "Abnormality of limbs", + "Abnormality of limb bone morphology", "Abnormal digit morphology", + "multicellular organismal process", + "Aplasia/hypoplasia involving forearm bones", + "segment of manus", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal cellular metabolic process", + "musculoskeletal system", + "abnormal upper urinary tract", + "abnormally decreased number of myeloid cell", + "aplastic anatomical entity", + "face", "aplasia or hypoplasia of manual digit", - "absent anatomical entity in the skeletal system", - "Abnormal platelet count", - "abnormal forelimb morphology", - "autopodial extension", - "abnormal platelet morphology", - "Abnormality of reproductive system physiology", - "digit plus metapodial segment", - "erythrocyte", - "abnormal limb bone morphology", - "Aplasia/hypoplasia involving bones of the hand", - "G2 phase", - "manual digitopodium region", - "skeleton of digitopodium", - "skeleton of pectoral complex", - "abnormal appendicular skeleton morphology", - "Eumetazoa", - "segment of autopod", - "shape anatomical entity", - "Subcutaneous hemorrhage", - "regional part of nervous system", - "abnormal head", - "digit 1", - "Abnormal erythroid lineage cell morphology", - "male reproductive organ", - "reproductive structure", - "cell cycle", - "abnormal reproductive system", - "manual digit 1 or 5", - "Abnormal platelet morphology", - "abnormally decreased number of platelet", - "Aplasia involving bones of the upper limbs", - "system", - "subdivision of organism along main body axis", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the hand", - "Abnormal hand morphology", - "abnormal manual digit morphology in the independent continuant", - "aplasia or hypoplasia of skeleton", + "Aplasia/hypoplasia of the extremities", "forelimb skeleton", - "Intellectual disability", - "absent manual digit", - "digit 1 or 5", - "arm", - "Short stature", - "Abnormality of limb bone", - "abnormal size of eyeball of camera-type eye", - "abnormal face", - "aplastic anatomical entity", - "abnormal eye movement", - "subdivision of organism along appendicular axis", - "cellular response to stress", - "absent anatomical entity in the independent continuant", - "agenesis of anatomical entity", - "bone of appendage girdle complex", - "manual digit", - "Abnormality of limb bone morphology", - "glandular system", - "skull", "endocrine system", - "abnormal endocrine system", - "Abnormality of the cell cycle", - "Abnormal appendicular skeleton morphology", - "renal system", + "abnormally decreased functionality of the anatomical entity", + "agenesis of anatomical entity", + "abnormal anatomical entity morphology in the manus", + "cardiovascular system", + "acropodium region", + "Intellectual disability", + "bone marrow", + "skeleton of manus", + "skeleton of limb", + "Abnormality of skin pigmentation", + "Aplasia involving forearm bones", + "anatomical system", + "material anatomical entity", "Hypergonadotropic hypogonadism", - "reproductive organ", - "shape kidney", - "Abnormal forearm morphology", - "abnormally decreased number of anatomical entity", - "Hypogonadism", - "endochondral bone", - "abnormal limb bone", - "abnormally decreased functionality of the gonad", - "regional part of brain", - "abnormality of reproductive system physiology", - "digit 1 digitopodial skeleton", - "gonad", - "heart", - "upper limb segment", - "Abnormality of the genital system", - "decreased anatomical entity mass", - "increased pigmentation", - "anatomical entity dysfunction in independent continuant", - "increased pigmentation in skin of body", - "manual digit 1", - "cellular process", - "Abnormality of metabolism/homeostasis", - "Bruising susceptibility", - "cellular component organization or biogenesis", - "Abnormality of the face", - "Phenotypic abnormality", - "abnormal digit morphology", - "Abnormality of the genitourinary system", - "cell cycle phase", - "decreased size of the eyeball of camera-type eye", - "appendage girdle complex", + "abnormal enucleated reticulocyte morphology", + "nucleate cell", + "decreased qualitatively sensory perception of sound", "abnormal anatomical entity topology in independent continuant", - "limb segment", + "sexual reproduction", + "organ system subdivision", + "abnormal blood cell", + "erythrocyte", "Macule", - "Abnormality of the cardiovascular system", - "skin of body", - "abnormal biological_process", - "multi-tissue structure", - "Abnormal cellular physiology", - "Aplasia/hypoplasia of the extremities", - "biological phase", - "obsolete cell", - "interphase", - "Prolonged G2 phase of cell cycle", - "upper urinary tract", - "skeletal system", - "abnormally decreased functionality of the anatomical entity", - "abnormal ear", - "abdominal segment element", - "abnormal cell cycle", - "Abnormality of the upper limb", - "absent anatomical entity in the limb", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "DNA repair", - "Abnormality of the skeletal system", - "digit", - "abdominal segment of trunk", - "abnormal renal collecting system", - "Abnormal cellular immune system morphology", - "Duplicated collecting system", - "viscus", - "integumental system", - "reproductive process", - "abnormal pigmentation", - "Hyperpigmentation of the skin", - "increased qualitatively biological_process in independent continuant", - "reticulocyte", - "abnormal central nervous system morphology", - "increased biological_process", - "abnormal metabolic process", - "changed biological_process rate", - "abnormal integument", - "abnormal growth", - "increased biological_process in skin of body", - "abnormal eyeball of camera-type eye", - "abnormal pigmentation in independent continuant", - "abnormal biological_process in independent continuant", - "abnormal skin of body morphology", - "abnormal sensory perception of sound", - "abnormal testis morphology", - "reproductive system", - "absent anatomical entity in the forelimb", - "abnormal skin of body", - "testis", - "craniocervical region", - "abnormal cellular process", - "abnormal programmed DNA elimination by chromosome breakage", - "Abnormal leukocyte morphology", - "Abnormality of brain morphology", - "abnormally decreased number of leukocyte", - "skeletal element", - "Abnormality of mental function", - "Abnormality of the head", - "Abnormal reproductive system morphology", - "Pancytopenia", - "Morphological central nervous system abnormality", - "manus bone", - "Absent thumb", - "skeleton", - "abnormal anatomical entity morphology in the brain", - "Abnormality of body weight", - "abnormal telencephalon morphology", - "Abnormal conjugate eye movement", - "organ system subdivision", - "process", - "aplasia or hypoplasia of radius bone", + "renal system", + "abnormal kidney morphology", "main body axis", - "cellular organisms", - "organism", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "absent kidney in the independent continuant", - "manual digit plus metapodial segment", - "phalanx endochondral element", - "limb skeleton subdivision", - "Microcephaly", - "immune system", - "abnormal craniocervical region", - "postcranial axial skeletal system", - "paired limb/fin skeleton", + "decreased spermatogenesis", + "quality", + "abnormal manus morphology", + "abnormally decreased number of hematopoietic cell", + "phenotype by ontology source", + "excretory system", + "bone marrow cell", + "circulatory system", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "abnormal myeloid cell morphology", + "increased biological_process", + "Abnormality of the nervous system", + "abnormality of internal male genitalia physiology", + "absent digit", + "phenotype", + "Abnormal cell morphology", + "abnormal arm", + "Atypical behavior", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormal renal system", + "Abnormality of the upper urinary tract", + "hemolymphoid system", + "Aplasia/hypoplasia involving the skeleton", + "abdomen element", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "DNA damage response", + "lateral structure", + "abnormal vasculature", + "abnormal genitourinary system", + "changed developmental process rate", "Abnormal cerebral morphology", - "Non-obstructive azoospermia", + "abnormal blood circulation", + "arm bone", + "Short thumb", + "enucleated reticulocyte", + "Abnormality of the kidney", + "abnormal anatomical entity", + "Small for gestational age", + "Abnormal forearm morphology", + "abnormal immune system", + "abnormality of anatomical entity height", + "subdivision of organism along main body axis", + "abnormal leukocyte morphology", + "anatomical line between pupils", + "independent continuant", + "abnormal renal system morphology", + "abnormal forelimb morphology", + "abnormal location of anatomical entity", + "absent kidney in the renal system", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "reproduction", + "trunk region element", + "cell cycle", + "pectoral complex", + "Anemic pallor", "absent anatomical entity in the multicellular organism", - "anterior region of body", - "Abnormality of the integument", - "paired limb/fin segment", - "abnormally decreased number of neutrophil", - "granulocyte", - "abnormally decreased number of hematopoietic cell", - "Eukaryota", - "forebrain", - "Abnormality of multiple cell lineages in the bone marrow", - "anatomical collection", - "abnormal skull morphology", - "musculoskeletal system", - "abnormally localised anatomical entity in independent continuant", - "appendicular skeleton", - "Abnormal axial skeleton morphology", - "abnormal autopod region morphology", - "behavior", - "blood cell", - "erythroid lineage cell", - "abnormal size of anatomical entity", - "abnormal number of anatomical enitites of type platelet", "hematopoietic system", - "abnormal forebrain morphology", - "haploid cell", - "Abnormal renal morphology", - "Abnormality of limbs", + "thoracic cavity element", + "Abnormal cellular immune system morphology", + "Abnormal nervous system physiology", + "Abnormality of the immune system", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "skeletal element", + "zeugopod", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "external genitalia", + "renal collecting system", + "Ectopic kidney", + "subdivision of head", + "appendage girdle complex", + "Renal hypoplasia/aplasia", + "abnormality of ear physiology", + "absent anatomical entity in the forelimb", "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "root", - "Abnormal neutrophil count", - "abnormal organelle organization", - "abnormal head morphology", - "head", - "abnormally decreased number of granulocyte", - "abnormal sensory perception", - "Neurodevelopmental abnormality", - "Abnormal skull morphology", - "Neoplasm", - "abnormal bone marrow cell", - "system process", - "Abnormal granulocyte morphology", + "cellular metabolic process", + "Abnormality of neutrophils", + "leukocyte", + "abnormal gamete generation", + "decreased multicellular organism mass", + "Aplasia/Hypoplasia involving the central nervous system", + "continuant", + "abnormal neutrophil", + "ectoderm-derived structure", + "structure with developmental contribution from neural crest", + "phalanx of manus", + "negative regulation of biosynthetic process", + "material entity", + "long bone", + "regional part of nervous system", + "Abnormal conjugate eye movement", + "forelimb bone", + "non-connected functional system", + "abdominal segment element", + "abnormal reproductive system morphology", + "abnormal hematopoietic system", + "Renal agenesis", "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", + "gamete generation", + "Aplasia/Hypoplasia of the thumb", + "bone cell", "biological_process", - "subdivision of skeleton", - "circulatory system", - "sense organ", - "subdivision of skeletal system", - "male gamete", - "ectoderm-derived structure", - "telencephalon", - "manual digit 1 plus metapodial segment", - "Duplication of bones involving the upper extremities", - "abnormal postcranial axial skeleton morphology", - "eyeball of camera-type eye", - "changed biological_process rate in independent continuant", - "Thrombocytopenia", - "abnormal craniocervical region morphology", - "All", - "organism substance", - "Aplasia/Hypoplasia involving the central nervous system", - "protein-DNA complex organization", - "organ", - "programmed DNA elimination by chromosome breakage", - "abnormal bone marrow morphology", + "myeloid leukocyte", + "entire sense organ system", + "absent radius bone in the independent continuant", + "Abnormal localization of kidney", + "biological regulation", + "Global developmental delay", + "abdominal segment of trunk", + "abnormal central nervous system morphology", + "abnormal renal collecting system", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal phenotype by ontology source", + "Abnormal thumb morphology", + "subdivision of trunk", + "absent manual digit", + "manual digit 1 digitopodial skeleton", + "regulation of gene expression", + "pectoral appendage", + "body proper", + "cognition", + "appendage", + "root", + "abnormally localised anatomical entity in independent continuant", + "abnormality of nervous system physiology", "organism subdivision", - "abnormal gamete", - "Abnormal nervous system physiology", - "thoracic cavity element", - "Abnormality of the kidney", - "cavitated compound organ", - "Abnormality of the musculoskeletal system", - "abnormal size of skull", - "abnormal limb", - "trunk region element", - "pectoral complex", - "abnormal hematopoietic system", - "Anemic pallor", - "absent anatomical entity in the renal system", - "abdomen", - "acropodial skeleton", - "abnormal kidney", - "nervous system process", - "body proper", - "forelimb zeugopod", + "abnormally decreased number of myeloid cell in the independent continuant", + "cranial skeletal system", + "Abnormal eye physiology", + "segment of autopod", + "reproductive system", + "aplastic manual digit 1", + "skeleton of pectoral complex", + "abnormally localised anatomical entity", + "hematopoietic cell", + "abnormally decreased number of granulocyte", + "abnormal hematopoietic cell morphology", + "viscus", + "Abnormal granulocyte morphology", + "Abnormal cellular phenotype", + "abnormal limb bone", "Abnormal nervous system morphology", - "genitourinary system", - "abnormality of anatomical entity mass", - "abnormal cell", - "bone element", + "Complete duplication of phalanx of hand", + "limb bone", + "granulocyte", + "abnormal number of anatomical enitites of type anatomical entity", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "paired limb/fin segment", + "abnormality of camera-type eye physiology", + "immune system", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal manual digit 1 morphology", + "Absent forearm bone", + "Leukemia", + "abnormal cell morphology", "abnormal nervous system morphology", - "abnormal cardiovascular system morphology", - "Abnormal eye morphology", - "Abnormality of head or neck", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/hypoplasia involving bones of the extremities", - "skeleton of manual digitopodium", - "axial skeletal system", - "abnormality of nervous system physiology", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal genitourinary system", - "Abnormality of the upper urinary tract", - "enucleated reticulocyte", - "forelimb zeugopod bone", - "quality", - "aplasia or hypoplasia of anatomical entity", - "regulation of biological process", - "Abnormal thumb morphology", - "oxygen accumulating cell", - "Abnormal localization of kidney", - "subdivision of trunk", - "abdomen element", - "autopod region", - "compound organ", - "Abnormal renal collecting system morphology", - "male germ cell", - "limb", - "lateral structure", - "Cryptorchidism", - "non-connected functional system", - "abnormal leukocyte morphology", - "abnormally localised anatomical entity", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "phenotype", - "abnormal renal system", - "postcranial axial skeleton", - "abnormally localised kidney", - "absent digit", - "Abnormality of blood and blood-forming tissues", - "anatomical structure", - "Abnormality of the urinary system", - "Decreased anatomical entity mass", - "Abnormality of skin morphology", - "multicellular organismal process", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "blood cell", + "Abnormality of the genitourinary system", + "forebrain", + "Abnormality of the cardiovascular system", "Abnormal myeloid cell morphology", - "increased pigmentation in independent continuant", - "manual digitopodium bone", - "abnormal skeletal system morphology", - "absent sperm in the independent continuant", + "U-shaped kidney", + "digit 1 or 5", + "skeleton of manual digitopodium", + "primary circulatory organ", + "neutrophil", + "Complete duplication of thumb phalanx", + "manual digit 1 phalanx", + "abnormal forelimb zeugopod bone", + "Abnormal myeloid leukocyte morphology", + "Pancytopenia", + "abnormal head", + "organism", + "programmed DNA elimination", + "obsolete cell", "internal male genitalia", - "occurrent", - "Metazoa", - "Cognitive impairment", - "abnormal nervous system", - "abnormal cellular component organization", - "appendicular skeletal system", - "Abnormality of the nervous system", - "abnormal cellular metabolic process", - "acropodium region", - "pectoral appendage skeleton", - "nucleate cell", - "Abnormality of the orbital region", - "Abnormal cellular phenotype", - "entity", - "abnormal number of anatomical enitites of type hematopoietic cell", - "pigmentation", - "myeloid leukocyte", - "germ cell", - "abnormal spermatogenesis", - "segment of manus", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal neutrophil", - "abnormal blood cell", + "Abnormal granulocyte count", + "eye", + "compound organ", + "zeugopodial skeleton", + "limb long bone", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "abnormal anatomical entity morphology in the pectoral complex", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "abnormal developmental process involved in reproduction", "Functional abnormality of male internal genitalia", - "increased biological_process in independent continuant", - "abnormally decreased number of cell in the independent continuant", + "circulatory system process", + "cavitated compound organ", + "Abnormal leukocyte count", + "manual digit 1 plus metapodial segment", + "abdomen", + "limb endochondral element", "abnormally decreased number of cell", - "cranial skeletal system", - "Hematological neoplasm", - "Aplasia/Hypoplasia of fingers", - "radius endochondral element", - "abnormal immune system morphology", - "leukocyte", - "mesoderm-derived structure", - "abnormal upper urinary tract", - "specifically dependent continuant", - "increased qualitatively biological_process", - "abnormal anatomical entity length", - "abnormal number of anatomical enitites of type cell", - "abnormal digit", - "abnormal number of anatomical enitites of type neutrophil", - "abnormality of anatomical entity physiology", - "Puberty and gonadal disorders", - "Abnormal immune system morphology", - "abnormal nitrogen compound metabolic process", - "abnormal immune system", - "abnormally decreased number of myeloid cell", - "Abnormality of blood circulation", - "excretory system", - "skeleton of limb", - "nervous system", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "protein-containing complex organization", - "abnormal granulocyte morphology", - "Decreased head circumference", - "hematopoietic cell", - "regulation of macromolecule metabolic process", - "continuant", - "aplastic manual digit 1", - "abnormal number of anatomical enitites of type leukocyte", "abnormal myeloid leukocyte morphology", - "abnormal manual digit morphology in the manus", - "Ectopic kidney", - "hemolymphoid system", - "Abnormal heart morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Renal hypoplasia/aplasia", - "abnormal manus morphology", - "cell", - "phenotype by ontology source", - "integument", - "metabolic process", - "abnormal phalanx morphology", - "myeloid cell", - "Neutropenia", - "abnormal skeletal system", - "disconnected anatomical group", - "abnormal number of anatomical enitites of type granulocyte", - "changed developmental process rate", - "neutrophil", - "abnormal cellular response to stress", - "independent continuant", - "abnormal hematopoietic system morphology", - "Aplasia/hypoplasia involving the skeleton", - "Abnormal granulocyte count", - "abnormal hematopoietic cell morphology", - "abnormal limb morphology", + "increased qualitatively biological_process in independent continuant", + "abnormal anatomical entity morphology in the independent continuant", "brain", - "Abnormal external genitalia", - "Abnormal leukocyte count", - "Pallor", - "Renal agenesis", - "Growth abnormality", - "abnormal renal system morphology", - "abnormal brain morphology", - "aplasia or hypoplasia of telencephalon", - "abnormal anatomical entity morphology", - "Abnormality of the immune system", - "Abnormality of the skin", - "3-D shape anatomical entity in independent continuant", - "anatomical system", - "Abnormality of the endocrine system", - "abnormal kidney morphology", - "immaterial anatomical entity", - "Abnormal bleeding", - "blood circulation", - "endochondral element", - "Abnormality of neutrophils", - "structure with developmental contribution from neural crest", - "renal collecting system", - "Abnormality of skin pigmentation", + "abnormal nervous system", + "biological phase", + "autopod bone", + "mesoderm-derived structure", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "gonad", + "multi-tissue structure", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", "abnormally decreased number of granulocyte in the independent continuant", - "simple eye", - "abnormally decreased number of anatomical entity in the independent continuant", - "axial skeleton plus cranial skeleton", - "Abnormal skeletal morphology", - "limb endochondral element", - "anatomical entity", - "abnormality of multicellular organism mass", - "eukaryotic cell", - "appendage", - "U-shaped kidney", - "material anatomical entity", - "abnormal blood cell morphology", - "material entity", - "limb long bone", - "abnormally decreased number of myeloid cell in the independent continuant", + "Abnormal skull morphology", + "abnormal craniocervical region morphology", + "immaterial entity", + "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", + "Abnormality of body weight", + "aplasia or hypoplasia of telencephalon", + "limb skeleton subdivision", + "skull", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "absent sperm in the semen", + "bone of pectoral complex", + "decreased length of anatomical entity", + "autopod endochondral element", + "Abnormality of limb bone", + "central nervous system", + "regional part of brain", + "craniocervical region", + "Abnormality of head or neck", + "abnormal kidney", + "abnormal reproductive system", + "abnormal head morphology", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "spermatogenesis", + "abnormal telencephalon morphology", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "manual digit 1 phalanx endochondral element", + "tissue", + "absent anatomical entity in the semen", + "Abnormality of brain morphology", + "nervous system", + "forelimb zeugopod bone", "kinesthetic behavior", - "abnormal number of anatomical enitites of type myeloid cell", - "multicellular organism", + "Eumetazoa", + "negative regulation of cellular metabolic process", + "Eukaryota", + "decreased length of manual digit", + "abnormal forebrain morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "telencephalon", + "Growth abnormality", + "axial skeletal system", + "abnormal skull morphology", + "reproductive organ", + "abnormal number of anatomical enitites of type reticulocyte", + "decreased developmental process", + "postcranial axial skeleton", + "Abnormal renal collecting system morphology", + "decreased qualitatively developmental process", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "changed biological_process rate in independent continuant", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "Decreased head circumference", + "abnormal size of anatomical entity", + "Abnormality of thrombocytes", + "Abnormal renal morphology", + "abnormal external genitalia", + "Abnormal axial skeleton morphology", + "non-material anatomical boundary", + "erythroid lineage cell", + "Abnormal reproductive system morphology", + "abnormal cardiovascular system", + "thoracic segment organ", + "Abnormal finger morphology", + "Abnormal erythrocyte morphology", + "circulatory organ", + "heart plus pericardium", + "Cryptorchidism", + "Abnormality of cardiovascular system morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "abnormal heart morphology", + "abnormal integument", + "Cafe-au-lait spot", + "abnormally decreased number of anatomical entity in the independent continuant", + "abnormal anatomical entity morphology", + "increased pigmentation", + "Neutropenia", + "reproductive structure", + "changed biological_process rate", + "increased biological_process in skin of body", + "absent germ cell", + "decreased size of the anatomical entity", + "abnormal biological_process in independent continuant", + "Neurodevelopmental delay", + "abnormal skin of body", + "Abnormality of the integument", + "Abnormality of bone marrow cell morphology", + "Growth delay", "kidney", + "abnormal biological_process", + "Abnormality of skin morphology", + "integumental system", + "integument", + "absent radius bone in the forelimb", + "increased biological_process in independent continuant", + "abnormal skin of body morphology", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "primary metabolic process", + "forelimb endochondral element", + "Abnormality of the skin", + "germ line cell", + "abnormal pigmentation in independent continuant", + "Abnormal forearm bone morphology", + "increased pigmentation in independent continuant", + "organic substance metabolic process", + "Abnormality of the head", + "heart", + "abnormal pigmentation", + "Abnormal heart morphology", + "abnormality of reproductive system physiology", + "limb segment", + "absent sperm", + "Abnormality of the genital system", + "Abnormality of reproductive system physiology", + "gamete", + "Abnormality of the endocrine system", + "abnormal endocrine system", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "Puberty and gonadal disorders", + "glandular system", + "male gamete", + "abnormally decreased functionality of the gonad", + "absent kidney", + "subdivision of skeletal system", + "abnormally decreased number of neutrophil", + "absent kidney in the independent continuant", + "oxygen accumulating cell", + "abnormal erythrocyte morphology", + "manus bone", + "radius bone", + "Abnormality of the hand", + "Anemia", + "abnormal shape of continuant", + "trunk", + "abnormal bone marrow cell", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "abnormal cellular process", + "secretory cell", + "decreased size of the anatomical entity in the independent continuant", + "anucleate cell", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "Prolonged G2 phase of cell cycle", + "pectoral appendage skeleton", + "abnormal blood cell morphology", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "abnormal brain morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal programmed DNA elimination by chromosome breakage", + "specifically dependent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + "cellular organisms", + "Abnormal neutrophil count", + "obsolete multicellular organism reproduction", + "digit 1", + "abnormal platelet morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "Abnormality of globe size", + "abnormally decreased number of platelet", + "Abnormal platelet count", + "sensory perception", + "abnormal developmental process", + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "organelle organization", + "postcranial axial skeletal system", + "abnormal spermatogenesis", + "germ cell", + "abnormal internal genitalia", + "abnormal cell", + "disconnected anatomical group", + "male reproductive organ", + "internal genitalia", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "abnormal external male genitalia", + "haploid cell", + "abnormal gamete", "Reticulocytopenia", - "Opisthokonta", - "Abnormal myeloid leukocyte morphology", - "abnormal phenotype by ontology source", - "abnormal location of anatomical entity", - "abnormal myeloid cell morphology", - "cognition", - "manus", + "abnormal testis morphology", + "forelimb zeugopod", + "interphase", + "semen", + "organism substance", + "Abnormal external genitalia", + "platelet", + "absent sperm in the independent continuant", + "male germ cell", + "abnormal granulocyte morphology", + "Azoospermia", + "male reproductive system", + "abnormal number of anatomical enitites of type sperm", + "manual digit", + "abnormal multicellular organismal reproductive process", + "anatomical entity", + "decreased qualitatively biological_process", + "testis", + "external male genitalia", + "regulation of macromolecule metabolic process", + "abnormal reproductive process", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", "male organism", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal forebrain morphology", - "Abnormal cell morphology", - "abnormally decreased number of leukocyte in the independent continuant" - ], - "has_phenotype_count": 32, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0001083", - "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome", - "full_name": null, - "deprecated": null, - "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.", - "xref": [ - "DOID:1062", - "GARD:9120", - "MESH:D005198", - "NANDO:2100027", - "NANDO:2200187", - "NCIT:C3034", - "SCTID:40488004", - "UMLS:C0015624" - ], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": [ - "De toni-Fanconi syndrome", + "sperm", + "absent gamete", + "developmental process involved in reproduction", + "Abnormality of male external genitalia", + "abnormal male reproductive system morphology", + "Abnormal testis morphology", + "absent anatomical entity in the independent continuant", + "abnormally localised testis", + "reproductive process", + "shape kidney", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "developmental process", + "abnormal manual digit morphology in the manus", + "Abnormal internal genitalia", + "forelimb zeugopod skeleton", + "Aplasia involving bones of the upper limbs", + "eukaryotic cell", + "abnormal limb long bone morphology", + "absent forelimb zeugopod bone", + "Pallor", + "abnormal bone of pectoral complex morphology", + "absent radius bone", + "abnormal behavior", + "radius endochondral element", + "abnormal radius bone morphology", + "Absent radius", + "aplastic forelimb zeugopod bone", + "abnormal size of skull", + "forelimb long bone", + "sensory perception of mechanical stimulus", + "abnormally decreased number of anatomical entity", + "skin of body", + "Abnormal upper limb bone morphology", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "3-D shape anatomical entity in independent continuant", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "Abnormal reticulocyte morphology", + "decreased length of anatomical entity in independent continuant", + "manual digitopodium region", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "decreased length of digit", + "Short finger", + "skeleton of digitopodium", + "Short digit", + "anterior region of body", + "decreased length of manual digit 1" + ], + "has_phenotype_count": 32, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0001083", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome", + "full_name": null, + "deprecated": null, + "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.", + "xref": [ + "DOID:1062", + "GARD:9120", + "MESH:D005198", + "NANDO:2100027", + "NANDO:2200187", + "NCIT:C3034", + "SCTID:40488004", + "UMLS:C0015624" + ], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [ + "De toni-Fanconi syndrome", "De toni-debre-Fanconi syndrome", "Fanconi syndrome", "Fanconi's syndrome", @@ -5342,40 +5342,46 @@ "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0002863", + "HP:0010469", + "HP:0000377", "HP:0002575", "HP:0000483", + "HP:0000238", "HP:0001249", "HP:0100587", + "HP:0100026", "HP:0040071", + "HP:0012639", + "HP:0008053", "HP:0006824", "HP:0005344", "HP:0002414", - "HP:0001199", + "HP:0002245", + "HP:0002023", + "HP:0001824", + "HP:0001646", + "HP:0000582", "HP:0000518", "HP:0000508", - "HP:0000010", + "HP:0000453", + "HP:0000047", + "HP:0007874", + "HP:0002650", "HP:0000252", - "HP:0001000", - "HP:0010469", - "HP:0000377", + "HP:0001882", + "HP:0002863", "HP:0002119", + "HP:0001510", "HP:0001392", "HP:0000864", "HP:0000316", - "HP:0000238", "HP:0000027", - "HP:0001562", - "HP:0001510", "HP:0100867", "HP:0100760", "HP:0100542", - "HP:0100026", - "HP:0012639", "HP:0012041", "HP:0010293", "HP:0008678", - "HP:0008053", "HP:0007565", "HP:0006265", "HP:0006101", @@ -5385,25 +5391,22 @@ "HP:0002827", "HP:0002823", "HP:0002251", - "HP:0002245", - "HP:0002023", "HP:0002007", - "HP:0001824", "HP:0001770", "HP:0001763", "HP:0001760", "HP:0001679", - "HP:0001646", "HP:0001643", "HP:0001639", "HP:0001636", "HP:0001631", + "HP:0001562", "HP:0001537", "HP:0001511", "HP:0001347", + "HP:0001199", "HP:0000813", "HP:0000639", - "HP:0000582", "HP:0000568", "HP:0000520", "HP:0000505", @@ -5411,7 +5414,6 @@ "HP:0000492", "HP:0000486", "HP:0000478", - "HP:0000453", "HP:0000365", "HP:0000364", "HP:0000347", @@ -5425,14 +5427,12 @@ "HP:0000130", "HP:0000083", "HP:0000072", - "HP:0000047", "HP:0000035", "HP:0000028", + "HP:0000010", "HP:0012745", "HP:0012210", - "HP:0007874", "HP:0002664", - "HP:0002650", "HP:0001671", "HP:0001263", "HP:0000079", @@ -5443,47 +5443,53 @@ "HP:0003220", "HP:0002817", "HP:0001903", - "HP:0001882", "HP:0001873", "HP:0001871", "HP:0001172", - "HP:0001053" + "HP:0001053", + "HP:0001000" ], "has_phenotype_label": [ - "Myelodysplasia", + "Absent testis", + "Abnormal pinna morphology", "Tracheoesophageal fistula", "Astigmatism", + "Hydrocephalus", "Intellectual disability", "Abnormal preputium morphology", + "Arteriovenous malformation", "Abnormal morphology of ulna", + "Abnormal nervous system morphology", + "Aplasia/Hypoplasia of the iris", "Cranial nerve paralysis", "Abnormal carotid artery morphology", "Spina bifida", - "Triphalangeal thumb", + "Meckel diverticulum", + "Anal atresia", + "Weight loss", + "Abnormal aortic valve morphology", + "Upslanted palpebral fissure", "Cataract", "Ptosis", - "Recurrent urinary tract infections", + "Choanal atresia", + "Hypospadias", + "Almond-shaped palpebral fissure", + "Scoliosis", "Microcephaly", - "Abnormality of skin pigmentation", - "Absent testis", - "Abnormal pinna morphology", + "Leukopenia", + "Myelodysplasia", "Ventriculomegaly", + "Growth delay", "Abnormality of the liver", "Abnormality of the hypothalamus-pituitary axis", "Hypertelorism", - "Hydrocephalus", "Azoospermia", - "Oligohydramnios", - "Growth delay", "Duodenal stenosis", "Clubbing of toes", "Abnormal localization of kidney", - "Arteriovenous malformation", - "Abnormal nervous system morphology", "Decreased fertility in males", "Aplasia/Hypoplasia of the uvula", "Renal hypoplasia/aplasia", - "Aplasia/Hypoplasia of the iris", "Multiple cafe-au-lait spots", "Aplasia/Hypoplasia of fingers", "Finger syndactyly", @@ -5493,25 +5499,22 @@ "Hip dislocation", "Abnormality of femur morphology", "Aganglionic megacolon", - "Meckel diverticulum", - "Anal atresia", "Frontal bossing", - "Weight loss", "Toe syndactyly", "Pes planus", "Abnormal foot morphology", "Abnormal aortic morphology", - "Abnormal aortic valve morphology", "Patent ductus arteriosus", "Hypertrophic cardiomyopathy", "Tetralogy of Fallot", "Atrial septal defect", + "Oligohydramnios", "Umbilical hernia", "Intrauterine growth retardation", "Hyperreflexia", + "Triphalangeal thumb", "Bicornuate uterus", "Nystagmus", - "Upslanted palpebral fissure", "Microphthalmia", "Proptosis", "Visual impairment", @@ -5519,7 +5522,6 @@ "Abnormal eyelid morphology", "Strabismus", "Abnormality of the eye", - "Choanal atresia", "Hearing impairment", "Hearing abnormality", "Micrognathia", @@ -5533,14 +5535,12 @@ "Abnormality of the uterus", "Renal insufficiency", "Hydroureter", - "Hypospadias", "Abnormal testis morphology", "Cryptorchidism", + "Recurrent urinary tract infections", "Short palpebral fissure", "Abnormal renal morphology", - "Almond-shaped palpebral fissure", "Neoplasm", - "Scoliosis", "Abnormal cardiac septum morphology", "Global developmental delay", "Abnormality of the urinary system", @@ -5551,3165 +5551,3165 @@ "Abnormality of chromosome stability", "Abnormality of the upper limb", "Anemia", - "Leukopenia", "Thrombocytopenia", "Abnormality of blood and blood-forming tissues", "Abnormal thumb morphology", - "Hypopigmented skin patches" + "Hypopigmented skin patches", + "Abnormality of skin pigmentation" ], "has_phenotype_closure": [ - "UPHENO:0077872", - "UPHENO:0077874", - "HP:0001053", "HP:0001010", "UPHENO:0085070", - "CL:0000225", - "UPHENO:0084987", + "CL:0000458", + "HP:0001873", + "UPHENO:0085344", "UPHENO:0085189", - "HP:0001872", - "UPHENO:0086005", - "HP:0011873", + "UPHENO:0084987", + "UPHENO:0086049", + "HP:0011875", "CL:0000233", - "UPHENO:0088337", - "UBERON:0000178", - "CL:0002242", - "UPHENO:0088338", - "HP:0032251", - "UPHENO:0063722", - "UPHENO:0035147", - "GO:0005623", - "GO:0034101", - "GO:0048468", - "UPHENO:0085118", + "CL:0000457", + "UPHENO:0086173", + "HP:0001939", + 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"BFO:0000141", - "UBERON:0003278", - "UBERON:0000474", - "HP:0002827", - "UPHENO:0003058", - "UBERON:0000072", - "UPHENO:0021304", - "UPHENO:0080300", - "HP:5201015", - "UBERON:0001017", - "HP:0004328", - "UPHENO:0081313", - "UPHENO:0041053", - "UBERON:0000065", - "UPHENO:0084489", - "UPHENO:0078179", - "UBERON:0002530", - "UPHENO:0075997", - "UPHENO:0086644", - "UBERON:0004923", - "UBERON:0000160", - "UPHENO:0082467", + "UBERON:0010371", + "UPHENO:0015282", + "HP:0000366", + "UPHENO:0087307", + "UPHENO:0050034", + "HP:0003312", + "HP:0000119", + "GO:0043009", + "UBERON:0000061", + "UPHENO:0076803", + "GO:0001838", + "UBERON:0006717", + "UBERON:0013768", + "UPHENO:0084771", + "UPHENO:0002941", + "UPHENO:0019477", + "UPHENO:0076783", "UPHENO:0021038", - "UPHENO:0086589", - "UPHENO:0042834", - "HP:0000481", - "HP:0005922", - "HP:0001881", - "UPHENO:0056237", + "UPHENO:0086612", + "UBERON:0001299", + "UPHENO:0056072", + "HP:0001549", + "HP:0011004", + "HP:0002245", + "HP:0040195", + "UPHENO:0020809", + "UBERON:0002108", + "UBERON:0000160", + "UPHENO:0082761", + "CL:0000738", + "UBERON:0002116", "UBERON:0001444", - "UBERON:0000045", - "UPHENO:0002905", - "HP:0011793", - "UBERON:0001049", - "UPHENO:0087665", - "UBERON:0012475", - "UBERON:0012354", - "HP:0000539", - "UPHENO:0080202", - "UPHENO:0084766", - "UPHENO:0086201", - "UBERON:0002513", - "UPHENO:0014240", - "UPHENO:0003070", - "UPHENO:0084761", - "UPHENO:0083263", - "UBERON:0000153", - "UBERON:0004572", - "UPHENO:0081790", - "GO:0022414", - "UBERON:0001004", - "UBERON:0000475", - "UBERON:0010741", + "UBERON:0035651", + "UPHENO:0002808", + "UPHENO:0087427", + "HP:0002244", + "UPHENO:0088337", + "UPHENO:0076728", "HP:0008050", - "HP:0012331", - "HP:0002795", - "UPHENO:0015280", - "HP:0000002", - "HP:0000077", - "GO:0001843", - "UPHENO:0086049", - "UBERON:0000117", - "BFO:0000040", - "HP:0011314", - "HP:0031910", - "UBERON:0004709", - "UPHENO:0020258", - "HP:0011355", - "UBERON:0001709", - "HP:0000315", - "UBERON:0010425", - "HP:0100547", - "UBERON:0004339", - "UBERON:0001005", - "BFO:0000003", - "UPHENO:0087846", - "HP:0410008", - "UBERON:0016529", - "HP:0100691", - "UBERON:0010314", - "UPHENO:0002448", - "HP:0000080", - "UPHENO:0054299", - "PR:000050567", - "UBERON:0011138", - "UPHENO:0041591", - "HP:0011024", - "UBERON:0001950", - "UPHENO:0087433", - "UPHENO:0085068", - "HP:0005607", - "UPHENO:0074572", - "UPHENO:0019766", - "UPHENO:0077885", - "UPHENO:0001005", - "UPHENO:0086610", - "UPHENO:0020748", - "UPHENO:0002536", - "UBERON:0010688", - "UBERON:0004111", - "UPHENO:0033572", - "CL:0000081", - "UPHENO:0082129", - "UBERON:0001445", - "UBERON:0008811", - "UBERON:0010358", - "HP:0005344", - "UBERON:0002100", - "GO:0050877", - "UBERON:0001684", - "UBERON:0003126", - "UPHENO:0004523", - "UPHENO:0015282", - "UBERON:0002193", - "HP:0000356", - "HP:0011961", + "UPHENO:0086644", + "UPHENO:0076804", + "UPHENO:0046505", + "UPHENO:0077889", + "UBERON:0000161", + "UPHENO:0086824", + "UPHENO:0074228", + "UBERON:0001245", + "UPHENO:0076760", + "UPHENO:0084448", + "UPHENO:0021304", "HP:0010293", - "HP:0002086", - "UBERON:0000467", - "UBERON:0007832", - "HP:0010469", - "UBERON:0000468", - "UBERON:0034713", - "HP:0011446", - "UBERON:0002217", - "HP:0100587", + "UBERON:0013702", + "HP:0002023", + "UBERON:0002355", + "UPHENO:0087509", + "HP:0006265", + "UPHENO:0054261", + "UPHENO:0054299", + "UPHENO:0041203", + "HP:0004325", + "HP:0040194", + "UPHENO:0031839", + "UPHENO:0033559", + "UPHENO:0082794", "HP:0001507", - "UBERON:0001333", - "UPHENO:0088186", - "UPHENO:0080352", - "UBERON:0000025", - "HP:0002664", - "UBERON:0003513", - "UBERON:0000915", + "UBERON:0010543", + "UPHENO:0049874", + "HP:0000174", + "UBERON:0003978", "HP:0001159", - "UBERON:0009569", - "UPHENO:0012541", - "UBERON:0003133", - "UBERON:0003221", - "UPHENO:0076803", - "UBERON:0003037", - "UPHENO:0075945", - "UPHENO:0081584", - "PATO:0000001", - "HP:0002863", - "UPHENO:0076692", - "UBERON:0005181", - "UBERON:0001456", + "UBERON:0005725", + "UPHENO:0086858", + "UBERON:0001555", + "UPHENO:0015317", + "UBERON:0005623", + "UPHENO:0087612", + "UBERON:0004288", + "HP:0009815", + "UPHENO:0015324", + "HP:0001770", + "UPHENO:0086143", + "UBERON:0002389", + "HP:0001654", + "UPHENO:0002839", + "UPHENO:0086614", + "UBERON:0000915", + "HP:0034915", + "UPHENO:0003070", + "UPHENO:0050008", + "UBERON:0002090", + "HP:0006496", + "UBERON:0005956", + "UBERON:0000946", + "CL:0000988", + "UPHENO:0081436", + "UBERON:0002529", + "UBERON:0004381", + "UPHENO:0076810", + "HP:0000069", + "UPHENO:0087070", + "UBERON:0002097", + "UPHENO:0015319", + "UPHENO:0082900", + "UBERON:0000948", + "UBERON:0002084", + "UPHENO:0015327", + "UBERON:0019221", + "HP:0000492", + "UPHENO:0080382", + "HP:0200006", + "UBERON:0001474", + "UPHENO:0063722", + "UBERON:0000117", + "UBERON:0034921", + "UPHENO:0003085", + "GO:0030154", + "UBERON:0004573", + "UBERON:0015052", + "HP:0032039", + "HP:0030669", + "UBERON:0010912", + "UPHENO:0086144", + "UPHENO:0021791", + "UBERON:0000179", + "UBERON:0000014", + "UPHENO:0086680", + "UPHENO:0076761", + "HP:0000518", + "HP:0001924", + "UPHENO:0018424", + "UBERON:0000965", + "UPHENO:0087578", + "UBERON:0005389", + "HP:0000508", + "GO:0048468", + "UPHENO:0087214", + "GO:0060562", + "UPHENO:0041644", + "UPHENO:0041667", + "UPHENO:0086699", + "UBERON:0010913", + "UBERON:0005726", + "UPHENO:0086628", + "UPHENO:0021517", + "UPHENO:0063621", + "HP:0010978", + "UPHENO:0086100", + "UPHENO:0003048", + "HP:0005105", + "HP:0011994", + "UPHENO:0002907", + "UPHENO:0084447", + "HP:0100790", + "HP:0010935", + "UBERON:0002268", + "UPHENO:0085330", + "UBERON:0003129", + "UPHENO:0002642", + "UBERON:0010740", + "UBERON:0000004", + "UPHENO:0063595", + "HP:0000929", + "UBERON:0010323", "UPHENO:0087814", - "UPHENO:0082875", - "UPHENO:0080221", - "UPHENO:0001002", - "GO:0001838", - "UPHENO:0010795", - "GO:0050890", - "NBO:0000313", - "UPHENO:0041041", - "UPHENO:0082356", - "UPHENO:0046538", - "HP:0002060", - "HP:0000483", + "UBERON:0007832", + "HP:0000415", + "HP:0100547", + "HP:0000144", + "UPHENO:0075852", + "HP:0000080", + "UBERON:0001008", + "UBERON:0012241", + "UPHENO:0002790", + "UBERON:5101466", + "HP:0032076", + "UBERON:0001556", + "UBERON:0000947", + "HP:0001574", + "HP:0010936", + "UBERON:8450002", + "HP:0000079", + "HP:0010438", + "HP:0000118", + "UPHENO:0005995", + "UPHENO:0020068", "UBERON:0007830", - "UPHENO:0041644", - "NCBITaxon:131567", - "UBERON:0007823", - "UPHENO:0002219", - "HP:0000795", - "UPHENO:0005433", - "UPHENO:0005518", - "UPHENO:0087816", - "UPHENO:0086122", - "UPHENO:0015290", - "UBERON:0002082", - "UBERON:0001890", - "UPHENO:0088115", - "HP:0003330", - "UPHENO:0088185", - "UPHENO:0087334", - "UBERON:0013765", - "UBERON:0010191", - "UBERON:0004119", - "UBERON:0001460", - "UBERON:0000466", - "UBERON:0000033", - "UBERON:0005440", - "CL:0000039", - "HP:0006101", - "UPHENO:0084816", - "CL:0000408", - "UBERON:0006555", - "BFO:0000001", - "GO:0016331", - "CL:0000232", - "HP:0002623", - "UPHENO:0004508" - ], - "has_phenotype_closure_label": [ - "decreased biological_process in skin of body", - "decreased biological_process in independent continuant", - "abnormal platelet morphology", - "Abnormal platelet morphology", - "abnormally decreased number of myeloid cell", - "serotonin secreting cell", - "Thrombocytopenia", - "abnormally decreased number of platelet", - "blood", - "abnormally decreased number of cell in the independent continuant", - "haemolymphatic fluid", - "abnormally decreased number of leukocyte in the blood", - "motile cell", - "Leukopenia", - "Abnormal immune system morphology", - "Abnormal cellular immune system morphology", - "Abnormal leukocyte morphology", - "abnormally decreased number of anatomical entity", - "Abnormal leukocyte count", - "abnormal number of anatomical enitites of type leukocyte", - "metabolic process", - "Abnormal cellular physiology", - "decreased size of the multicellular organism", - "Short stature", - "decreased height of the multicellular organism", - "myeloid cell", - "myeloid cell homeostasis", - "oxygen accumulating cell", - "hematopoietic cell", - "cell differentiation", - "cell development", - "Pyridoxine-responsive sideroblastic anemia", - "myeloid cell differentiation", - "Anemia", - "abnormal erythroid lineage cell morphology", - "abnormal hematopoietic cell morphology", - "anucleate cell", - "Abnormal erythrocyte morphology", - "Aplasia/Hypoplasia of the radius", - "radius bone", - "Almond-shaped palpebral fissure", - "Abnormal shape of the palpebral fissure", - "abnormal size of palpebral fissure", - "Short palpebral fissure", - "abnormally localised testis", - "abnormally localised anatomical entity", - "Abnormality of the lower urinary tract", - "lower urinary tract", - "renal pelvis/ureter", - "abnormal ureter morphology", - "Abnormality of the ureter", - "ureter", - "Abnormal ureter morphology", - "aplasia or hypoplasia of radius bone", - "Abnormal renal physiology", - "Renal insufficiency", - "non-functional anatomical entity", - "Puberty and gonadal disorders", - "abnormal incomplete closing of the secondary palate", - "High palate", - "increased height of the secondary palate", - "increased size of the head", - "skin of head", - "Epicanthus", - "abnormal skin of face morphology", - "increased length of the epicanthal fold", - "head or neck skin", - "epicanthal fold", - "abnormal skin of head morphology", - "Facial asymmetry", - "sloped anatomical entity", - "abnormal shape of forehead", - "sloped forehead", - "abnormal facial skeleton morphology", - "abnormal shape of palpebral fissure", - "Aplasia/Hypoplasia of the mandible", - "abnormal jaw skeleton morphology", - "abnormal mandible morphology", - "homeostatic process", - "Abnormal mandible morphology", - "Abnormal jaw morphology", - "anatomical entity hypoplasia in face", - "jaw skeleton", - "Dolichocephaly", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "facial bone hypoplasia", - "aplasia or hypoplasia of mandible", - "dentary", - "mandible hypoplasia", - "bone of lower jaw", - "abnormal immune system morphology", - "decreased size of the mandible", - "Aplasia/Hypoplasia of facial bones", - "abnormal asymmetry of anatomical entity", - "decreased sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal radius bone morphology", - "Hearing abnormality", - "chemosensory system", - "abnormal nose morphology", - "abnormal asymmetry of face", - "internal naris atresia", - "abnormal number of anatomical enitites of type hematopoietic cell", - "naris", - "olfactory organ", - "abnormal nose", - "olfactory system", - "Abnormal nasal morphology", - "abnormal posterior nasal aperture morphology", - "Abnormality of the choanae", - "abnormal lower urinary tract", - "posterior nasal aperture atresia", - "Strabismus", - "Abnormality of vision", - "Hypopigmentation of the skin", - "sensory perception", - "visual perception", - "Visual impairment", - "abnormal urethra", - "abnormal sensory perception", - "sensory perception of light stimulus", - "decreased qualitatively visual perception", - "Proptosis", - "abnormal size of eyeball of camera-type eye", - "Microphthalmia", - "Abnormality of globe size", - "Abnormality of the palpebral fissures", - "Slanting of the palpebral fissure", - "abnormality of internal ear physiology", - "vestibulo-ocular reflex", - "Nystagmus", - "physiologic nystagmus", - "eye movement", - "abnormal eye movement", - "Functional abnormality of the inner ear", - "abnormal internal ear", - "abnormality of ear physiology", - "internal ear", - "female reproductive system", - "abnormal internal female genitalia morphology", - "Abnormality of metabolism/homeostasis", - "abnormal female reproductive organ morphology", - "shape uterus", - "Abnormality of the uterus", - "decreased qualitatively sensory perception of sound", - "subdivision of oviduct", - "bicornuate uterus", - "abnormal female reproductive system morphology", - "abnormal uterus", - "Bicornuate uterus", - "sensory perception of sound", - "female reproductive organ", - "uterus", - "female organism", - "skin of eyelid", - "bicornuate anatomical entity", - "internal female genitalia", - "decreased qualitatively pigmentation in independent continuant", - "abnormal behavior", - "neuromuscular process", - "voluntary musculoskeletal movement", - "abnormal response to external stimulus", - "response to external stimulus", - "Abnormal reflex", - "Abnormality of movement", - "voluntary movement behavior", - "body part movement", - "behavior process", - "reflex", - "abnormal voluntary movement behavior", - "decreased qualitatively biological_process in independent continuant", - "abnormal behavior process", - "decreased embryo development", - "Hypogonadism", - "abnormal umbilicus morphology", - "Abnormal umbilicus morphology", - "biogenic amine secreting cell", - "changed embryo development rate", - "abdominal wall", - "Hernia", - "connective tissue", - "abnormal incomplete closing of the abdominal wall", - "herniated anatomical entity", - "abnormal voluntary musculoskeletal movement", - "Abnormality of the abdominal wall", - "abnormal cardiac atrium morphology", - "cardiac atrium", - "abnormal cardiac atrium morphology in the independent continuant", - "interatrial septum", - "abnormal interatrial septum morphology", - "eukaryotic cell", - "Abnormal cardiac atrium morphology", - "Atrial septal defect", - "abnormally increased volume of anatomical entity", - "abnormal internal naris", - "hypertrophic cardiac ventricle", - "Overriding aorta", - "erythrocyte differentiation", - "Abdominal wall defect", - "Pulmonic stenosis", - "abnormal pulmonary valve morphology", - "aplasia or hypoplasia of skull", - "Abnormal cardiac septum morphology", - "Abnormal right ventricle morphology", - "cardiac septum", - "Abnormal facial skeleton morphology", - "right cardiac chamber", - "abnormal size of heart right ventricle", - "Abnormal ventriculoarterial connection", - "Abnormal ventricular septum morphology", - "abnormal cardiac septum morphology", - "Abnormal connection of the cardiac segments", - "Ventricular hypertrophy", - "hypertrophic heart right ventricle", - "abnormally decreased functionality of the anatomical entity", - "abnormally decreased number of leukocyte in the independent continuant", - "myocardium", - "abnormal myocardium morphology", - "abnormally decreased functionality of the myocardium", - "anatomical entity dysfunction in independent continuant", - "abnormal sensory perception of sound", - "Abnormal myocardium morphology", - "Patent ductus arteriosus", - "Abnormal male urethral meatus morphology", - "vasculature of trunk", - "heart blood vessel", - "embryonic cardiovascular system", - "Abnormal conjugate eye movement", - "Congenital malformation of the great arteries", - "conceptus", - "abnormal coronary vessel morphology", - "abnormal artery morphology in the independent continuant", - "abnormal incomplete closing of the ductus arteriosus", - "abnormal ductus arteriosus morphology", - "outflow tract", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal cardiac ventricle morphology in the heart", - "lower jaw region", - "abnormal uterus morphology", - "valve", - "semi-lunar valve", - "cardiac ventricle", - "outflow tract of ventricle", - "abnormal cardiac valve morphology in the heart", - "abnormal heart left ventricle morphology", - "glans", - "abnormal cardiac ventricle morphology", - "Abnormal aortic valve morphology", - "abnormal cardiac valve morphology in the independent continuant", - "outflow part of left ventricle", - "abnormal cardiac valve morphology", - "primary circulatory organ", - "Abnormal heart valve morphology", - "abnormal embryo development", - "abnormal abdominal wall", - "Abnormal cardiac ventricle morphology", - "thoracic cavity blood vessel", - "abnormal aorta morphology", - "Abnormal morphology of the great vessels", - "cellular developmental process", - "Abnormal aortic morphology", - "aortic system", - "flat anatomical entity in independent continuant", - "Increased head circumference", - "flat longitudinal arch of pes", - "flattened anatomical entity", - "flat anatomical entity", - "Pes planus", - "abnormally fused pedal digit and pedal digit", - "decreased multicellular organism mass", - "Weight loss", - "abnormality of anatomical entity mass", - "abnormality of multicellular organism mass", - "Decreased body weight", - "Decreased multicellular organism mass", - "decreased anatomical entity mass", - "frontal cortex", - "abnormal cerebral cortex morphology", - "prominent anatomical entity", - "cerebral hemisphere gray matter", - "forehead", - "prominent forehead", - "abnormally localised anatomical entity in independent continuant", - "Hypospadias", - "abnormal cranium morphology", - "abnormal shape of frontal cortex", - "cortex of cerebral lobe", - "abnormal neocortex morphology", - "dermal skeleton", - "primary subdivision of cranial skeletal system", - "cranium", - "central nervous system gray matter layer", - "dermal bone", - "non-functional kidney", - "pallium", - "Abnormal uterus morphology", - "central nervous system cell part cluster", - "dermal skeletal element", - "lobe of cerebral hemisphere", - "Abnormality of the forehead", - "cerebral hemisphere", - "great vessel of heart", - "Abnormal shape of the frontal region", - "Hypopigmented skin patches", - "neurocranium", - "dermatocranium", - "cranial bone", - "secretory cell", - "bone of craniocervical region", - "abnormal frontal cortex morphology", - "abnormal neurocranium morphology", - "heart layer", - "intramembranous bone", - "membrane bone", - "abnormal tetrapod frontal bone morphology", - "abnormal forehead", - "abnormal anus", - "Anal atresia", - "anus atresia", - "heart plus pericardium", - "Abnormality of the anus", - "Abnormal ileum morphology", - "abnormal ileum morphology", - "ganglion of peripheral nervous system", - "decreased pigmentation in independent continuant", - "neocortex", - "parasympathetic ganglion", - "decreased length of palpebral fissure", - "abnormal parasympathetic ganglion morphology", - "abnormal enteric ganglion morphology", - "involuntary movement behavior", - "abnormal enteric nervous system morphology", - "abnormal parasympathetic nervous system morphology", - "decreased height of the anatomical entity", - "Abnormality of the autonomic nervous system", - "abnormal autonomic nervous system", - "platelet", - "enteric ganglion", - "autonomic nervous system", - "abnormal ganglion of peripheral nervous system morphology", - "nucleate cell", - "Scoliosis", - "Abnormal peripheral nervous system ganglion morphology", - "abnormal autonomic nervous system morphology", - "Abnormality of femur morphology", - "hindlimb stylopod", - "abnormal hindlimb stylopod morphology", - "abnormal femur morphology", - "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "bone of hip region", - "pelvic girdle skeleton", - "articulation", - "Abnormality of the nose", - "orifice", - "zone of organ", - "Abnormal hip bone morphology", - "trunk bone", - "sensory perception of mechanical stimulus", - "hip", - "appendage girdle region", - "excretory tube", - "hip joint", - "zone of bone organ", - "girdle skeleton", - "Abnormality of lower limb joint", - "anatomical entity dislocation", - "girdle bone/zone", - "hip dislocation", - "Abnormal hip joint morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "skeletal joint", - "abnormal hindlimb joint", - "synovial joint", - "pelvic region element", - "pelvic region of trunk", - "abnormal skeletal joint morphology", - "abnormal joint of girdle morphology", - "Right ventricular hypertrophy", - "abnormal hip joint morphology", - "abnormal synovial joint of pelvic girdle morphology", - "Forearm undergrowth", - "decreased size of the anatomical entity in the independent continuant", - "heart", - "Aplasia/Hypoplasia of the ulna", - "decreased length of forelimb zeugopod bone", - "decreased length of anatomical entity", - "Abnormality of the urethra", - "forelimb zeugopod bone hypoplasia", - "ulna hypoplasia", - "decreased length of anatomical entity in independent continuant", - "interventricular septum", - "Upper limb undergrowth", - "decreased size of the anatomical entity", - "decreased length of long bone", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Lower extremity joint dislocation", - "Limb undergrowth", - "decreased size of the ulna", - "Hypoplasia of the ulna", - "aplasia or hypoplasia of ulna", - "bone element hypoplasia in independent continuant", - "vault of skull", - "abnormal spatial pattern of anatomical entity", - "aorta", - "manual digit 5", - "abnormality of kidney physiology", - "Hyperreflexia", - "anatomical entity atresia", - "enteric nervous system", - "Abnormal 5th finger morphology", - "Deviation of finger", - "Clinodactyly of the 5th finger", - "Deviation of the 5th finger", - "deviation of manual digit 5 towards the middle", - "Finger clinodactyly", - "deviation of anatomical entity towards the middle", - "deviation of anatomical entity", - "Decreased bone element mass density", - "Decreased anatomical entity mass density", - "ossification", - "Abnormality of bone mineral density", - "Syndactyly", - "Finger syndactyly", - "abnormally fused manual digit and manual digit", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "Aplasia/hypoplasia involving the skeleton", - "Aplasia/hypoplasia involving bones of the upper limbs", - "anatomical entity hypoplasia", - "Aplasia/hypoplasia involving bones of the hand", - "Aplasia/Hypoplasia of fingers", - "aplasia or hypoplasia of skeleton", - "Hypermelanotic macule", - "increased pigmentation in skin of body", - "increased pigmentation in independent continuant", - "increased qualitatively biological_process in independent continuant", - "Cafe-au-lait spot", - "deviation of manual digit 5", - "increased qualitatively biological_process", - "abnormally formed anatomical entity", - "Abnormal uvea morphology", - "abnormal iris morphology", - "Aplasia/Hypoplasia affecting the eye", - "joint of girdle", - "abnormal uvea morphology", - "anterior chamber of eyeball", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "chamber of eyeball", - "abnormal number of anatomical enitites of type platelet", - "uvea", - "Abnormal anterior chamber morphology", - "Abnormality iris morphology", - "Ocular anterior segment dysgenesis", - "abnormally formed anterior chamber of eyeball", - "iris", - "Renal hypoplasia/aplasia", - "zone of skin", - "abnormal palatine uvula morphology", - "Abnormal uvula morphology", - "midface", - "Abnormal oral cavity morphology", - "secondary palate", - "soft palate", - "anatomical cavity", - "Aplasia/Hypoplasia of the uvula", - "abnormal response to stimulus", - "morphological feature", + "HP:0200005", + "UPHENO:0065599", + "HP:0000252", + "HP:0003272", + "UBERON:0002472", + "HP:0002977", + "UPHENO:0080200", + "HP:0100886", + "UPHENO:0020888", + "UBERON:0001893", + "UPHENO:0087518", + "UPHENO:0075195", + "UBERON:0005899", + "UPHENO:0085984", + "CL:0000586", + "UBERON:0012359", + "HP:0004348", + "HP:0002715", + "UPHENO:0086045", + "UBERON:0001449", + "UBERON:0000178", + "HP:0011893", + "HP:0010987", + "HP:0004377", + "UPHENO:0063565", + "HP:0001392", + "UPHENO:0088321", + "UPHENO:0004459", + "UPHENO:0003020", + "UPHENO:0004536", + "UPHENO:0003116", + "UBERON:0002390", + "UPHENO:0088319", + "UBERON:0000949", + "UBERON:0001733", + "UPHENO:0085875", + "UPHENO:0035147", + "UBERON:0002387", + "CL:0000255", + "CL:0000219", + "UPHENO:0002948", + "HP:0001881", + "UBERON:0003113", + "UPHENO:0041212", + "UPHENO:0085410", + "UPHENO:0001440", + "UPHENO:0000541", + "HP:0002031", + "HP:0001373", + "UBERON:0012476", + "UPHENO:0000543", + "UBERON:0002423", + "UBERON:0002365", + "UBERON:0002330", + "HP:0002012", + "UBERON:0015204", + "UPHENO:0080126", + "UBERON:0005172", + "UPHENO:0002803", + "HP:0000818", + "UPHENO:0084767", + "UBERON:0000916", + "UBERON:0002417", + "NBO:0000417", + "HP:0000924", + "UPHENO:0074572", + "UBERON:0006925", + "UBERON:0002368", + "CL:0000408", + "UBERON:0005173", + "HP:0002624", + "UBERON:0002530", + "UPHENO:0002844", + "UPHENO:0075995", + "UBERON:0004092", + "UBERON:0000466", + "UBERON:0008785", + "UBERON:0000015", + "UPHENO:0052675", + "HP:0000316", + "UPHENO:0042834", + "UPHENO:0072195", + "HP:0002814", + "UBERON:0006800", + "UPHENO:0049367", + "UPHENO:0052231", + "UPHENO:0081594", + "NCBITaxon:1", + "UPHENO:0021474", + "UPHENO:0087597", + "UBERON:0002114", + "UPHENO:0076748", + "UBERON:0012152", + "UPHENO:0078375", + "UBERON:0010696", + "NBO:0000444", + "UPHENO:0081344", + "UBERON:0000063", + "HP:0008056", + "UBERON:0007273", + "HP:0002270", + "UBERON:0015022", + "UPHENO:0086866", + "UBERON:0001445", + "HP:0011297", + "UBERON:0004248", + "GO:0043473", + "UBERON:0012142", + "UBERON:0010758", + "UBERON:0001890", + "UPHENO:0081091", + "HP:0010674", + "HP:0001217", + "UPHENO:0078125", + "UPHENO:0087369", + "UPHENO:0082444", + "HP:0001639", + "UPHENO:0002896", + "UPHENO:0076806", + "HP:0040072", + "UBERON:0004053", + "UBERON:0001441", + "UBERON:0015023", + "UPHENO:0081575", + "UBERON:0001711", + "UBERON:0003221", + "UPHENO:0002964", + "UPHENO:0088140", + "UBERON:0006314", + "UPHENO:0041821", + "HP:0100760", + "UBERON:0010709", + "UBERON:0005440", + "HP:0001882", + "UPHENO:0002905", + "UPHENO:0084654", + "UBERON:0001769", + "UBERON:5002544", + "UBERON:0000154", + "HP:0031653", + "UBERON:0004122", + "HP:0009826", + "UPHENO:0033616", + "HP:0001384", + "CL:0000763", + "UPHENO:0049586", + "UBERON:0010742", + "HP:0004349", + "HP:0040068", + "UBERON:0002470", + "UBERON:0012139", + "HP:0001824", + "UBERON:0004709", + "UPHENO:0033603", + "UBERON:0001466", + "UBERON:0000978", + "UPHENO:0087123", + "HP:0000077", + "UBERON:0002199", + "UBERON:0002137", + "UBERON:0011143", + "UBERON:0007842", + "UBERON:0002113", + "HP:0001199", + "UPHENO:0000996", + "UBERON:0005881", + "UPHENO:0076779", + "UBERON:0001846", + "UBERON:0002217", + "UBERON:0007375", + "UBERON:0034768", + "UPHENO:0081570", + "UPHENO:0076786", + "UBERON:0001703", + "UPHENO:0078215", + "UBERON:0002553", + "HP:0031816", + "UPHENO:0075843", + "HP:0000172", + "UBERON:0012240", + "UBERON:0001734", + "UBERON:0005944", + "UBERON:0000079", + "UBERON:0001716", + "UBERON:0004089", + "UPHENO:0088088", + "HP:0008678", + "HP:0012372", + "UBERON:0005179", + "UPHENO:0080221", + "HP:0001034", + "HP:0012210", + "UPHENO:0059829", + "UPHENO:0074575", + "HP:0000309", + "UPHENO:0082682", + "UBERON:0001359", + "UPHENO:0074584", + "UBERON:0000167", + "UBERON:0001442", + "UPHENO:0078736", + "HP:0031105", + "UBERON:0002416", + "HP:0008053", + "UPHENO:0022529", + "UPHENO:0054957", + "UPHENO:0084511", + "UPHENO:0066927", + "UBERON:0010000", + "UBERON:0010230", + "HP:0011121", + "UPHENO:0080601", + "UPHENO:0086172", + "UPHENO:0074589", + "CL:0000225", + "UPHENO:0054970", + "UPHENO:0049940", + "UPHENO:0084761", + "UBERON:0002384", + "UBERON:0012141", + "CL:0000151", + "HP:0001510", + "HP:0001167", + "UPHENO:0085302", + "UPHENO:0080114", + "UPHENO:0084766", + "UPHENO:0080201", + "UBERON:0003101", + "HP:0001155", + "HP:0045060", + "HP:0008373", + "HP:0005927", + "UPHENO:0085371", + "UPHENO:0076723", + "UPHENO:0084653", + "UBERON:0005451", + "HP:0005922", + "UPHENO:0082671", + "UPHENO:0078179", + "HP:0011849", + "HP:0010469", + "UBERON:0008202", + "UPHENO:0082834", + "HP:0004209", + "UPHENO:0087203", + "UPHENO:0082835", + "UBERON:0002412", + "GO:0001503", + "HP:0011446", + "HP:0030084", + "HP:0000377", + "HP:0004097", + "UBERON:0012357", + "UPHENO:0084842", + "HP:0009824", + "UPHENO:0080369", + "UPHENO:0084829", + "HP:0000864", + "UPHENO:0086150", + "UPHENO:0076736", + "HP:0009179", + "UBERON:5003625", + "UBERON:0012180", + "UPHENO:0068971", + "UPHENO:0081790", + "HP:0200007", + "HP:0009821", + "UPHENO:0012274", + "UPHENO:0012541", + "UPHENO:0053580", + "HP:0040019", + "UPHENO:0069293", + "UBERON:0010425", + "UBERON:0007823", + "UPHENO:0001001", + "UPHENO:0087892", + "UPHENO:0060026", + "HP:0001367", + "HP:0000504", + "UPHENO:0002813", + "UPHENO:0087980", + "UBERON:0001457", + "UBERON:0008907", + "UPHENO:0079871", + "NBO:0000313", + "HP:0002827", + "UBERON:0000982", + "UBERON:0005913", + "UBERON:0001271", + "UBERON:0003828", + "UPHENO:0075945", + "UBERON:0003463", + "UPHENO:0086088", + "HP:0001903", + "UPHENO:0076767", + "UBERON:0001464", + "UBERON:0008114", + "UBERON:0007828", + "UBERON:0003840", + "UPHENO:0087974", + "UBERON:0004770", + "HP:0002644", + "UBERON:5002389", + "UPHENO:0087558", + "HP:0000271", + "UBERON:0005893", + "UBERON:0001712", + "UBERON:0001950", + "UBERON:0003826", + "UBERON:0016526", + "UPHENO:0010795", + "UBERON:0001805", + "HP:0002251", + "UBERON:0004121", + "HP:0000525", + "UPHENO:0088183", + "UPHENO:0020258", + "UPHENO:0087121", + "UBERON:0002410" + ], + "has_phenotype_closure_label": [ + "decreased biological_process in multicellular organism", + "decreased qualitatively pigmentation in independent continuant", + "Hypopigmentation of the skin", + "decreased qualitatively biological_process in independent continuant", + "decreased biological_process in skin of body", + "decreased biological_process in independent continuant", + "Thrombocytopenia", + "Abnormal platelet count", + "abnormally decreased number of platelet", + "abnormally decreased number of myeloid cell", "abnormal blood cell", - "ganglion", - "abnormal pigmentation in independent continuant", - "abnormal anterior chamber of eyeball morphology", - "abnormal mouth", - "Abnormal soft palate morphology", - "abnormal size of multicellular organism", - "Abnormality of the abdominal organs", - "abnormal mouth morphology", - "Abnormality of the inner ear", - "abnormal vein morphology", - "Abnormal venous morphology", - "Cleft palate", - "abnormal anatomical entity morphology in the pelvic complex", - "Abnormality of the upper urinary tract", - "abnormal physiologic nystagmus", - "skeleton of pelvic complex", - "respiratory airway", - "kidney", - "oviduct", - "Abnormal localization of kidney", - "Sloping forehead", - "anterior uvea", - "abnormal kidney morphology", - "Abnormality of the cardiovascular system", - "hindlimb", - "Clubbing of toes", - "Orofacial cleft", - "Abnormal toe morphology", - "leukocyte", - "clavate anatomical entity", - "abnormal bone of pelvic complex morphology", - "abnormal skin of body", - "concave 3-D shape anatomical entity", - "posterior region of body", - "abnormal embryo morphology", - "abnormal upper urinary tract", - "Abnormal autonomic nervous system morphology", - "Abnormal midface morphology", - "abnormal pedal digit morphology", - "abdominal segment bone", - "3-D shape anatomical entity", - "longitudinal arch of pes", - "pedal digitopodium region", - "Cryptorchidism", - "synovial joint of pelvic girdle", - "pes", - "sensory system", - "pedal digit bone", - "Abnormal lower limb bone morphology", - "anatomical system", - "pedal digitopodium bone", - "primary subdivision of skull", - "Aplasia/Hypoplasia of the iris", - "pedal digit phalanx endochondral element", - "Irregular hyperpigmentation", - "hindlimb bone", - "hindlimb long bone", - "Global developmental delay", - "decreased size of the anatomical entity in the pectoral complex", - "leg", - "small intestine", - "Small intestinal stenosis", - "anatomical space", - "intestine", - "internal genitalia", - "pes bone", - "duodenum", - "Abnormal intestine morphology", - "frontal lobe", - "abnormal biological_process in independent continuant", - "ventricle of nervous system", - "pedal digit plus metapodial segment", - "Clinodactyly", - "growth", - "abnormal skull morphology", - "abnormal renal system morphology", - "hindlimb skeleton", - "Growth abnormality", - "delayed growth", - "Abnormal cardiovascular system physiology", - "hindlimb joint", - "cavitated compound organ", - "abnormal late embryo", - "abnormal ocular surface region morphology", - "abnormal hindlimb morphology", - "amniotic fluid", - "Abnormality of the amniotic fluid", - "Arteriovenous malformation", - "abnormal anus morphology", - "Abnormality of prenatal development or birth", - "shape forehead", - "abnormal soft palate morphology", - "Oligohydramnios", - "abnormally protruding eyeball of camera-type eye", - "cerebrospinal fluid", - "Aplasia/Hypoplasia affecting the uvea", - "Abnormal cerebrospinal fluid morphology", - "Abnormal erythroid lineage cell morphology", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "abnormal trachea morphology", - "upper digestive tract", - "abnormal cerebrospinal fluid morphology", - "immaterial entity", - "Toe syndactyly", - "trunk", - "pedal digit", - "Abnormality of globe location", - "musculature of body", - "ventricular system of brain", - "Hypertelorism", - "abnormal visual perception", - "increased length of the anatomical line between pupils", - "male germ cell", - "anatomical line", - "pelvic appendage", - "increased anatomical entity length in independent continuant", - "Cardiomyopathy", - "abnormal oral cavity morphology", - "abnormal location of anatomical entity", - "hypothalamus-pituitary axis", - "abnormal hypothalamus-pituitary axis", - "nervous system process", - "exocrine system", - "kinesthetic behavior", - "flattened anatomical entity in independent continuant", - "anatomical entity hypoplasia in independent continuant", - "blood vessel", - "hepatobiliary system", - "Intrauterine growth retardation", - "abdomen", - "liver", - "Abnormality of the endocrine system", - "abnormal brain ventricle morphology", - "Displacement of the urethral meatus", - "abnormal size of brain ventricle", - "Ventriculomegaly", - "Abnormal cerebral ventricle morphology", - "increased size of the anatomical entity", - "multi cell part structure", - "abnormality of internal male genitalia physiology", - "abnormal brain ventricle/choroid plexus morphology", + "abnormal platelet", + "anucleate cell", + "secretory cell", + "obsolete cell", + "Abnormality of chromosome stability", + "Abnormal cellular physiology", + "decreased size of the multicellular organism", + "Abnormality of body height", + "serotonin secreting cell", + "abnormal size of multicellular organism", + "erythrocyte differentiation", + "myeloid cell differentiation", "hemopoiesis", - "Abnormal vestibulo-ocular reflex", - "femur", - "Metazoa", - "opaque lens of camera-type eye", - "Abnormal ear morphology", - "abnormal external ear", - "Abnormality of the outer ear", - "abnormal number of anatomical entities of type anatomical entity in blood", - "skeleton of pedal acropodium", - "abnormal external ear morphology", - "Abnormality of the ear", - "Abnormal pinna morphology", - "Abnormal frontal bone morphology", - "abdominal segment element", - "digit 1 plus metapodial segment", - "abnormal ear", - "external ear", - "abnormal number of anatomical enitites of type sperm", - "decreased biological_process", - "Cataract", - "semen", - "reproductive process", - "bony vertebral centrum", - "Decreased fertility in males", - "reproduction", - "abnormal ear morphology", - "Abnormal internal genitalia", - "brain ventricle", - "abnormal closing of the anatomical entity", - "Abnormal testis morphology", - "subdivision of skeleton", - "abnormal anatomical entity, curved", - "sexual reproduction", - "developmental process involved in reproduction", - "segment of pes", - "multicellular organismal reproductive process", - "skeleton of pedal digitopodium", - "abnormal reproductive process", - "skin of face", - "decreased qualitatively developmental process", - "multicellular organismal movement", - "Abnormal atrial septum morphology", - "absent anatomical entity in the semen", - "abnormal anatomical entity length", - "abnormal number of anatomical enitites of type cell", - "germ line cell", - "cardiac chamber", - "abnormal anatomical entity morphology", - "changed developmental process rate", - "Hip dislocation", - "malformed anatomical entity", - "Abnormal peripheral nervous system morphology", - "root", - "abnormal multicellular organismal reproductive process", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormally fused anatomical entity and anatomical entity", - "aplasia or hypoplasia of palatine uvula", - "absent gamete", - "digit 5", - "venous blood vessel", - "Functional abnormality of male internal genitalia", - "anatomical wall", - "absent sperm in the semen", - "Abnormality of the liver", - "obsolete multicellular organism reproduction", - "Azoospermia", - "decreased pigmentation in multicellular organism", + "cellular developmental process", + "abnormal erythroid lineage cell morphology", + "erythroid lineage cell", "Sideroblastic anemia", - "Non-obstructive azoospermia", - "increased biological_process in skin of body", - "abnormal cornea, asymmetrically curved", - "absent anatomical entity in the multicellular organism", - "Abnormal heart morphology", - "Multiple cafe-au-lait spots", - "pelvic complex", - "sperm", - "deviation of digit towards the middle", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "increased size of the anatomical entity in independent continuant", - "absent anatomical entity in the independent continuant", - "decreased qualitatively biological_process", - "specifically dependent continuant", - "Abnormal spermatogenesis", - "Micrognathia", - "abnormal internal genitalia", - "Abnormality of the face", - "decreased qualitatively reproductive process", - "abnormal heart right ventricle morphology", - "Abnormal toe phalanx morphology", - "Abnormal ganglion morphology", - "abnormal anatomical entity mass density", - "male gamete generation", - "decreased developmental process", - "abnormal gamete generation", - "abnormal developmental process involved in reproduction", - "abnormal interventricular septum morphology", - "abnormal anatomical entity morphology in the heart", - "prepuce", - "Decreased fertility", - "integument", - "pigmentation", - "brain ventricle/choroid plexus", - "abnormal vault of skull", - "Abnormality of skin morphology", - "Abnormality of the skin", - "abnormal craniocervical region morphology", - "abnormal integument", - "Abnormal oral morphology", - "abnormal skin of body morphology", - "Abnormality of brain morphology", + "Abnormal myeloid cell morphology", + "immune system process", + "cellular process", + "homeostatic process", + "abnormal myeloid cell morphology", + "erythrocyte", + "myeloid cell", + "blood cell", + "abnormal erythrocyte morphology", + "Pyridoxine-responsive sideroblastic anemia", "erythrocyte homeostasis", - "abnormal arch of centrum of vertebra", - "venous system", - "Abnormal forebrain morphology", - "abnormal anatomical entity morphology in the brain", - "abnormal telencephalon morphology", - "Abnormal involuntary eye movements", - "aplasia or hypoplasia of anatomical entity", - "abnormal pes morphology", - "All", - "organism", - "increased size of the heart right ventricle", - "Abnormal skull morphology", - "embryonic tissue", - "Opisthokonta", - "reproductive organ", - "digitopodium bone", - "organism substance", - "eye", - "Aplasia/Hypoplasia of the testes", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormality of reproductive system physiology", - "regional part of brain", - "Microcephaly", + "homeostasis of number of cells", + "oxygen accumulating cell", + "Anemia of inadequate production", + "radius bone", + "Abnormal morphology of the radius", + "aplasia or hypoplasia of radius bone", + "abnormal radius bone morphology", + "Neurodevelopmental delay", + "abnormal size of palpebral fissure", + "decreased length of palpebral fissure", + "Abnormal size of the palpebral fissures", + "Abnormality of immune system physiology", + "abnormality of immune system physiology", + "abnormally localised testis", + "abnormally localised anatomical entity in independent continuant", + "Cryptorchidism", + "ureter", + "Abnormal ureter morphology", + "Abnormality of the ureter", + "abnormal ureter morphology", + "Abnormal renal physiology", + "Hypopigmented skin patches", + "Abnormality of the urinary system physiology", + "abnormally decreased functionality of the gonad", + "Cleft palate", + "Craniofacial cleft", + "increased height of the anatomical entity", + "increased height of anatomical entity in independent continuant", + "High palate", + "Increased head circumference", + "increased size of the head", + "increased length of the epicanthal fold", + "upper eyelid", + "zone of skin", + "Epicanthus", + "skin of head", + "head or neck skin", + "abnormal skin of face morphology", + "skin of face", + "abnormal asymmetry of anatomical entity", + "abnormal shape of forehead", + "sloped anatomical entity", + "abnormal facial skeleton morphology", + "Hypoplastic facial bones", + "facial skeleton", + "facial bone", + "mandible", + "anatomical entity hypoplasia in face", + "bone of lower jaw", + "mandible hypoplasia", + "abnormal mandible morphology", + "Abnormal mandible morphology", + "lower jaw region", + "facial bone hypoplasia", + "decreased size of the mandible", + "bone element hypoplasia in face", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "decreased qualitatively sensory perception of mechanical stimulus", + "sloped forehead", + "sensory perception of mechanical stimulus", + "decreased sensory perception of sound", + "abnormal sensory perception of sound", + "Hearing abnormality", + "sensory perception of sound", + "decreased qualitatively sensory perception of sound", + "Abnormal conjugate eye movement", + "Strabismus", + "sensory perception of light stimulus", + "abnormal sensory perception of light stimulus", + "abnormal sensory perception", + "decreased qualitatively visual perception", + "visual perception", + "abnormally protruding eyeball of camera-type eye", + "cell development", + "abnormal size of eyeball of camera-type eye", + "Abnormality of globe size", + "Abnormality of eye movement", + "cranial nerve related reflex", + "Abnormal vestibulo-ocular reflex", + "Abnormal vestibular function", + "abnormality of ear physiology", + "abnormal eye movement", + "abnormal physiologic nystagmus", + "eye movement", + "abnormal vestibulo-ocular reflex", + "shape uterus", + "abnormal uterus", + "female organism", + "internal female genitalia", + "abnormal internal female genitalia morphology", + "Abnormality of the female genitalia", + "Aplasia/Hypoplasia of facial bones", + "bicornuate uterus", + "abnormal female reproductive system", + "oviduct", + "bicornuate anatomical entity", + "uterus", + "Abnormality of the uterus", + "abnormal anatomical entity morphology in the skeleton of manus", + "Abnormality of thumb phalanx", + "manual digitopodium bone", + "manual digit 1 phalanx", + "digit 1", + "Abnormal finger phalanx morphology", + "manus bone", + "excretory tube", + "manual digit 1 phalanx endochondral element", + "abnormal incomplete closing of the secondary palate", + "phalanx of manus", + "manual digit 1 digitopodial skeleton", + "abnormal visual perception", + "abnormal phalanx of manus morphology", + "abnormal manual digit 1 morphology", + "Triphalangeal thumb", + "manual digit 1", + "abnormal female reproductive system morphology", + "digit 1 digitopodial skeleton", + "skeleton of manual acropodium", + "skeleton of manual digitopodium", + "Bicornuate uterus", + "abnormal behavior", + "body part movement", + "neuromuscular process", + "voluntary musculoskeletal movement", + "kinesthetic behavior", "increased qualitatively response to stimulus", - "endocrine system", - "skull", - "abnormal size of anatomical entity", - "aplasia or hypoplasia of telencephalon", - "abnormal leukocyte morphology", - "abnormal brain morphology", - "skeleton of pes", - "stylopod", - "organ part", - "immune system", - "renal system", - "esophagus", - "Abnormality of the urinary system physiology", - "skeleton of lower jaw", - "bone of appendage girdle complex", - "Unusual infection", - "excretory system", - "abnormal renal system", - "Abnormality of the immune system", - "palpebral fissure", - "abnormally fused pedal digit and anatomical entity", - "autonomic ganglion", - "deviation of manual digit towards the middle", + "abnormal voluntary musculoskeletal movement", + "Hyperreflexia", + "reflex", + "Abnormality of movement", "Recurrent urinary tract infections", - "Abnormality of the urinary system", - "Ptosis", - "Craniofacial cleft", + "involuntary movement behavior", + "multicellular organismal movement", + "abnormal response to external stimulus", + "decreased embryo development", + "abnormal embryo development", + "Abnormal umbilicus morphology", + "Hernia", + "Hernia of the abdominal wall", + "Abnormality of connective tissue", + "abnormal umbilicus morphology", + "abnormal incomplete closing of the abdominal wall", + "Abnormality of the abdominal wall", + "umbilicus", + "connective tissue", + "herniated anatomical entity", + "herniated abdominal wall", + "response to external stimulus", + "Abnormality of the amniotic fluid", + "abnormal amniotic fluid", + "Abnormality of prenatal development or birth", + "Renal insufficiency", + "late embryo", + "Oligohydramnios", + "amniotic fluid", + "interatrial septum", + "abnormal cardiac atrium morphology in the independent continuant", + "Abnormal atrial septum morphology", + "abnormal cardiac atrium morphology", + "abnormal interatrial septum morphology", + "Abnormal ventricular septum morphology", + "metabolic process", + "Abnormal cardiac septum morphology", + "increased size of the heart right ventricle", + "interventricular septum", + "abnormal hematopoietic cell morphology", + "Abnormal connection of the cardiac segments", + "abnormally increased volume of anatomical entity", + "Ventricular hypertrophy", + "abnormal pulmonary valve morphology", + "Global developmental delay", + "reflexive behavior", + "Right ventricular hypertrophy", + "cardiac septum", + "Abnormal pulmonary valve physiology", + "abnormality of cardiovascular system physiology", + "skin of eyelid", + "Aplasia/Hypoplasia of the mandible", + "abnormal size of heart right ventricle", + "abnormal cardiac septum morphology", + "hypertrophic cardiac ventricle", + "hypertrophic heart right ventricle", + "Abnormal myocardium morphology", + "layer of muscle tissue", + "abnormal myocardium morphology", + "heart layer", + "abnormal abdominal wall", + "embryonic cardiovascular system", + "heart vasculature", + "response to stimulus", "ductus arteriosus", - "neuron projection bundle", - "abnormal eyelid morphology", - "intromittent organ", - "Abnormality of skin pigmentation", - "autopodial extension", - "eyelid", - "abnormal camera-type eye morphology", - "Abnormal male reproductive system physiology", - "drooping eyelid", - "organ system subdivision", - "Abnormal eyelid morphology", - "anatomical line between pupils", - "system development", - "ocular adnexa", - "tissue morphogenesis", - "abnormal manus morphology", - "Abnormality of immune system physiology", - "multi organ part structure", - "Meckel diverticulum", - "transparent eye structure", - "Abnormal lens morphology", - "lens of camera-type eye", - "abnormal immune system", + "abnormal coronary vessel morphology", + "abnormal number of anatomical enitites of type myeloid cell", + "thoracic segment blood vessel", + "coronary vessel", + "Patent ductus arteriosus", + "decreased pigmentation in multicellular organism", + "Congenital malformation of the great arteries", + "aplasia or hypoplasia of mandible", + "trunk blood vessel", + "abnormal incomplete closing of the ductus arteriosus", + "vasculature of organ", + "abnormal female reproductive organ morphology", + "abnormally decreased functionality of the anatomical entity", + "vasculature of trunk", + "heart blood vessel", + "bone of jaw", + "aortic system", + "aorta", + "great vessel of heart", + "Abnormal aortic morphology", + "flattened anatomical entity", + "longitudinal arch of pes", + "flattened anatomical entity in independent continuant", + "shape longitudinal arch of pes", + "Pes planus", + "flat anatomical entity", + "abnormally fused anatomical entity and pedal digit", + "Toe syndactyly", + "manual digit 1 plus metapodial segment", + "abnormal cerebral hemisphere morphology", + "neurocranium bone", + "vault of skull", + "female reproductive system", + "dermal skeleton", + "primary subdivision of skull", + "primary subdivision of cranial skeletal system", + "gray matter", + "dermal bone", + "aplasia or hypoplasia of skull", + "frontal lobe", + "pallium", + "neurocranium", + "cranial bone", + "bone of craniocervical region", + "intramembranous bone", + "membrane bone", + "Hearing impairment", + "abnormal neurocranium morphology", + "abnormal head bone morphology", + "abnormal shape of frontal cortex", + "abnormality of internal ear physiology", + "abnormal tetrapod frontal bone morphology", + "abnormal vault of skull", + "Puberty and gonadal disorders", + "central nervous system cell part cluster", + "lobe of cerebral hemisphere", + "cerebral hemisphere", + "forehead", + "abnormal great vessel of heart morphology", + "frontal cortex", + "abnormal response to stimulus", + "embryo development ending in birth or egg hatching", + "Abnormal form of the vertebral bodies", + "outflow part of left ventricle", + "vertebral column", + "vertebra", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "Abnormal heart valve morphology", + "abnormal neural tube morphology", + "anatomical structure formation involved in morphogenesis", + "abnormal aortic valve morphology", + "tube formation", "neural tube", - "opaque anatomical entity", - "abnormal anatomical entity morphology in the manus", - "Abnormality of skull size", - "abnormal manus", - "ventricular system of central nervous system", - "acropodium region", - "neural tube closure", - "manual digit 1", - "abnormal nervous system", - "manual digit plus metapodial segment", - "abnormal shape of external ear", - "skeleton of manus", - "gonad", + "presumptive structure", + "Abnormality of the inner ear", + "abnormal vertebral column morphology", + "face", + "aplasia or hypoplasia of manual digit", + "Abnormality of the vasculature", + "non-functional anatomical entity", + "Abnormal vertebral morphology", + "Vertebral arch anomaly", + "epithelium development", + "abnormal head", + "arterial system", + "Decreased bone element mass density", + "abnormal systemic arterial system morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal common carotid artery plus branches morphology", + "jaw region", + "artery", + "abnormal anatomical entity mass density", + "Spinal dysraphism", + "decreased qualitatively pigmentation", + "decreased multicellular organism mass", + "innominate bone", + "gray matter of forebrain", + "heart plus pericardium", + "Pulmonic stenosis", + "Abnormal peripheral nervous system morphology", + "Atypical behavior", + "Abnormal upper limb bone morphology", + "chemosensory system", + "abnormally decreased number of anatomical entity", + "Abnormality of the orbital region", + "roof of mouth", + "paralysed cranial nerve", + "Abnormal cranial nerve physiology", + "male germ cell", + "Aplasia/Hypoplasia of the uvula", + "Ocular anterior segment dysgenesis", + "decreased height of the multicellular organism", + "abnormal anatomical entity morphology in the pelvic complex", + "abnormal neocortex morphology", + "decreased biological_process", + "Eukaryota", + "Eumetazoa", + "Aplasia/Hypoplasia affecting the uvea", + "anterior uvea", + "vestibulo-auditory system", + "Abnormal right ventricle morphology", + "Clinodactyly", + "cranial neuron projection bundle", + "Abdominal wall defect", + "Almond-shaped palpebral fissure", + "Clubbing", + "head bone", + "shape digit", + "multi-tissue structure", + "bodily fluid", + "abnormal peripheral nervous system morphology", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "appendage girdle complex", + "subdivision of head", + "Abnormal calvaria morphology", + "abnormal skeletal system", + "Abnormal morphology of ulna", + "Aplasia/Hypoplasia of the iris", + "mouth", + "spinal cord", + "appendicular skeleton", + "limb skeleton subdivision", + "Abnormal cell morphology", + "Abnormal palate morphology", + "forelimb long bone", + "abnormal size of skull", + "limb segment", + "abnormally formed anatomical entity", + "absent sperm", + "skeletal system", + "curved anatomical entity in independent continuant", + "hindlimb skeleton", + "endochondral bone", + "subdivision of skeleton", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "Abnormality of the skeletal system", + "Overriding aorta", + "trachea", + "Deviation of finger", + "Abnormality of limbs", + "Abnormal platelet morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "ulna endochondral element", + "abnormal shape of cornea", + "abnormal forebrain morphology", + "abnormal limb long bone morphology", + "eukaryotic cell", "abnormal zone of skin morphology", + "pedal digitopodium bone", + "neural tube formation", + "anatomical conduit", + "abnormally formed anterior chamber of eyeball", + "Anal atresia", "postcranial axial skeletal system", - "digit 1 digitopodial skeleton", - "asymmetrically curved anatomical entity", - "forelimb zeugopod bone", - "manual digit digitopodial skeleton", - "skeleton of manual acropodium", - "Abnormal digit morphology", - "abnormal manual digit morphology in the manus", - "Hernia of the abdominal wall", - "femur endochondral element", - "Abnormality of head or neck", - "Abnormality of reproductive system physiology", - "digit plus metapodial segment", - "abnormal kidney", - "trunk blood vessel", - "bone of pelvic complex", - "Abnormal bone structure", - "acropodial skeleton", - "abnormal bone element mass density", - "brain", - "manual digitopodium region", - "Hypertrophic cardiomyopathy", - "manus", - "cardiac valve", - "decreased spermatogenesis", - "abnormal prepuce of penis morphology", - "abnormal endocrine system", - "limb long bone", - "manual digit bone", - "Abnormal thumb morphology", - "Eumetazoa", - "segment of autopod", - "jaw region", - "manual digit phalanx endochondral element", - "abnormal manual digit morphology in the independent continuant", - "vein", - "internal male genitalia", - "Abnormal ocular adnexa morphology", - "Abnormal pulmonary valve physiology", - "Abnormality of thumb phalanx", - "Abnormal finger phalanx morphology", - "arterial system", - "abnormal phalanx of manus morphology", - "septum", - "autopodial skeleton", - "coronary vessel", - "abnormal anatomical entity, asymmetrically curved", - "abnormal anatomical entity morphology in the skeleton of manus", - "facial bone", - "Hearing impairment", - "abnormal digit", - "abnormally fused anatomical entity and manual digit", - "digestive system gland", - "abnormal ganglion morphology", - "phalanx", - "manual digit 1 phalanx endochondral element", - "autopod endochondral element", - "autopod bone", - "phalanx of manus", - "main body axis", - "manual digit", - "tetrapod frontal bone", - "limb joint", - "abnormal phalanx morphology", - "male reproductive system", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "future central nervous system", - "abnormally fused digit and anatomical entity", - "Growth delay", - "abnormal location of eyeball of camera-type eye", - "digitopodium region", - "Abnormality of the vertebral column", - "ecto-epithelium", - "embryonic structure", - "skeletal joint dislocation", - "developmental process", - "manual digit 1 digitopodial skeleton", - "abnormal vertebral column", - "abnormality of camera-type eye physiology", - "cranial nerve", - "embryonic epithelial tube formation", - "Abnormality of the peripheral nervous system", - "Hypoplastic facial bones", + "Clubbing of toes", + "Abnormal uvea morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal forelimb zeugopod morphology", + "zeugopod", + "skeletal element", + "paired limb/fin", "abnormal semi-lunar valve morphology", - "Reduced bone mineral density", - "Macule", - "abnormal reproductive system", - "anatomical structure formation involved in morphogenesis", - "Choanal atresia", - "Abnormal cerebral cortex morphology", - "anatomical structure development", - "male urethra", - "Abnormal vascular morphology", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "bone element", + "pectoral appendage", + "deviation of manual digit 5 towards the middle", + "abnormal digestive system morphology", + "septum", + "Abnormality of limb bone morphology", + "Abnormal forearm bone morphology", + "root", + "Abnormal forebrain morphology", + "developing anatomical structure", + "skeleton of limb", + "forelimb zeugopod skeleton", + "prepuce", + "subdivision of oviduct", + "limb bone", + "pectoral appendage skeleton", + "Abnormal blood vessel morphology", + "cardiovascular system", + "blood vasculature", + "tube development", + "acropodium region", + "blood vessel", + "germ cell", + "outflow tract", + "Umbilical hernia", + "Arteriovenous malformation", + "abnormal connective tissue", + "Abnormal eye morphology", + "Abnormal long bone morphology", + "absent sperm in the semen", + "vasculature", "embryonic morphogenesis", - "Abnormal eye physiology", - "Abnormality of the lower limb", - "abnormal erythrocyte morphology", - "postcranial axial skeleton", - "Abnormal cellular phenotype", - "vertebral column", - "abnormal long bone morphology", - "paired limb/fin skeleton", - "morphogenesis of an epithelium", - "articular system", - "neural tube development", - "tube morphogenesis", - "innominate bone", - "Aplasia/hypoplasia involving bones of the extremities", + "abnormal liver", + "decreased pigmentation in independent continuant", + "tissue development", + "venous blood vessel", + "abnormal vasculature", + "abnormal genitourinary system", + "abnormal musculoskeletal movement", + "changed developmental process rate", + "abnormal cardiovascular system", + "Abnormal reproductive system morphology", + "abnormal blood vessel morphology", + "abnormal parasympathetic nervous system morphology", + "abnormal embryo morphology", + "Abnormal venous morphology", + "Aplasia/Hypoplasia affecting the eye", + "Functional abnormality of male internal genitalia", + "vein", + "multi cell part structure", + "abnormal prepuce of penis morphology", + "myocardium", + "external ear", + "abnormal telencephalon morphology", + "Abnormality of the forehead", + "intromittent organ", + "organism", + "secondary palate", + "penis", + "Orofacial cleft", + "digestive system element", + "autopod bone", + "Neurodevelopmental abnormality", + "manual digit phalanx endochondral element", + "Abnormality of the immune system", + "abnormal skin of head morphology", + "abnormal neural tube closure", + "abnormal cardiovascular system morphology", + "Abnormality of mental function", + "nervous system process", + "Abnormal toe phalanx morphology", + "arch of centrum of vertebra", + "Metazoa", + "abnormal parasympathetic ganglion morphology", + "abnormality of internal male genitalia physiology", + "decreased length of forelimb zeugopod bone", + "limb endochondral element", + "abnormal brain ventricle/choroid plexus morphology", + "Abnormal cerebral ventricle morphology", + "structure with developmental contribution from neural crest", + "abnormal nervous system morphology", + "abnormal central nervous system morphology", + "Abnormal preputium morphology", + "Neural tube defect", + "organ system subdivision", + "Aplasia/Hypoplasia involving bones of the skull", + "tissue morphogenesis", + "abnormal brain ventricle morphology", + "skeletal joint", + "Abnormal cardiovascular system physiology", + "Abnormal cerebrospinal fluid morphology", + "forelimb bone", + "Abnormal uvula morphology", "abnormally increased number of anatomical entity", - "abnormal blood cell morphology", - "subdivision of organism along appendicular axis", - "abnormal embryonic tissue morphology", - "abnormal myeloid cell morphology", - "Abnormality of the nervous system", - "respiratory tract", - "abnormal cell morphology", - "primary neural tube formation", - "neural tube formation", - "Abnormal small intestine morphology", - "abnormal secondary palate morphology", - "digestive system", - "abnormal neural tube closure", - "erythrocyte", - "telencephalon", + "ventricular system of central nervous system", + "Abnormal shape of the frontal region", + "central nervous system", + "abnormal arm", + "Abnormality of limb bone", + "autopod endochondral element", + "cognition", + "ventricular system of brain", + "shape anatomical entity", + "anatomical entity hypoplasia in independent continuant", + "Facial asymmetry", + "Abnormal leukocyte count", + "anatomical entity dysfunction in independent continuant", + "abnormal brain morphology", + "abnormal heart layer morphology", + "Abnormal frontal bone morphology", + "Abnormality of lower limb joint", + "Recurrent infections", + "Morphological central nervous system abnormality", + "organ component layer", "Hydrocephalus", - "manual digit 1 plus metapodial segment", - "Abnormal vertebral morphology", - "Spina bifida", - "Abnormality of mental function", - "tissue", - "abnormally decreased number of cell", - "abnormal intestine morphology", - "abnormal vertebra morphology", - "abnormal anatomical entity topology in independent continuant", - "Abnormal myeloid cell morphology", - "palatine uvula", - "nervous system", - "morphogenesis of embryonic epithelium", - "Abnormality of the kidney", + "forelimb zeugopod bone", + "abnormal anus morphology", + "abnormally increased number of brain ventricle in the independent continuant", + "cerebrospinal fluid", + "abnormal nervous system", + "abnormally fused pedal digit and pedal digit", + "future central nervous system", + "nervous system development", + "abnormal manual digit morphology in the manus", + "material anatomical entity", + "abnormal internal naris", + "Cranial nerve paralysis", + "developmental process", + "abnormal ureter", + "absent anatomical entity in the independent continuant", + "manual digit 1 or 5", + "abdominal segment bone", + "abnormal forelimb morphology", + "abnormal autonomic nervous system", + "abnormal cornea, asymmetrically curved", + "Abnormal cellular immune system morphology", "Abnormality of male external genitalia", - "limb segment", - "cerebral cortex", - "gray matter of forebrain", - "abnormal incomplete closing of the arch of centrum of vertebra", + "abnormal forehead", + "abnormal voluntary movement behavior", + "tissue", + "abnormal behavior process", + "abnormal axial skeleton plus cranial skeleton morphology", + "absent anatomical entity in the semen", + "subdivision of organism along appendicular axis", + "Abnormal male reproductive system physiology", + "abnormal cerebrospinal fluid morphology", + "zeugopodial skeleton", + "Small intestinal stenosis", + "male gamete generation", + "sexual reproduction", + "abnormal synovial joint of pelvic girdle morphology", + "embryo", + "Absent testis", + "exocrine system", + "Abnormality of the genitourinary system", + "Abnormality of the outer ear", + "abnormal gamete", + "quality", + "phenotype by ontology source", + "Abnormality of the male genitalia", + "Abnormality of blood and blood-forming tissues", + "abnormality of multicellular organism height", + "abnormal limb morphology", + "upper urinary tract", + "right cardiac chamber", + "manual digitopodium region", + "abnormal enteric nervous system morphology", + "anterior region of body", + "Abnormality of the upper limb", + "entity", + "Decreased anatomical entity mass", + "anatomical system", + "upper digestive tract", "dorsum", - "roof of mouth", - "absent anatomical entity", - "central nervous system", - "circulatory organ", - "abnormal outflow part of left ventricle morphology", - "abnormality of male reproductive system physiology", - "glandular system", - "reflexive behavior", - "abnormal tube formation", - "Abnormality of chromosome stability", - "Abnormal blood vessel morphology", - "spinal cord", - "abnormal limb bone morphology", - "abnormal opening of the anatomical entity", - "abnormal number of anatomical enitites of type myeloid cell", - "Vertebral arch anomaly", - "Frontal bossing", - "axial skeleton plus cranial skeleton", - "gray matter of telencephalon", - "parasympathetic nervous system", - "prepuce of penis", - "vertebra", + "cranial nerve", + "testis", + "reproductive structure", + "abnormal ulna morphology", + "gonad", + "Decreased anatomical entity mass density", + "ganglion", + "abnormal shape of external ear", + "opaque lens of camera-type eye", + "epithelial tube", + "Finger clinodactyly", + "iris", + "absent gamete", + "naris", + "mesoderm-derived structure", + "abnormal male reproductive system morphology", + "Abnormality of the gastrointestinal tract", + "internal male genitalia", + "digestive system", + "curved anatomical entity", + "decreased length of long bone", + "material entity", + "increased reflex", + "long bone", + "system development", + "abnormal multicellular organismal reproductive process", + "abnormal anatomical entity, asymmetrically curved", + "manual digit", + "abnormal reproductive process", + "abnormal shape of continuant", + "system process", + "male gamete", + "cell differentiation", + "abnormal cerebral cortex morphology", + "abnormal arch of centrum of vertebra", + "bone of appendage girdle complex", + "anatomical wall", + "abnormality of anatomical entity height", + "abnormal heart right ventricle morphology", + "neural crest-derived structure", + "epithelial tube formation", + "asymmetrically curved cornea", + "hindlimb", + "continuant", + "Intrauterine growth retardation", + "abnormal cornea morphology", + "entire sense organ system", + "lower urinary tract", + "Abnormality of globe location", + "Tracheoesophageal fistula", + "Abnormal cardiac atrium morphology", + "Neoplasm", + "Abnormal intestine morphology", + "organ", + "pedal digit plus metapodial segment", + "occurrent", + "abnormal male reproductive organ morphology", + "pedal digit phalanx endochondral element", + "integumental system", + "semen", "abnormality of anatomical entity physiology", - "artery", - "vasculature", - "Abnormal anus morphology", - "Abnormality of limb bone", - "Decreased head circumference", - "sense organ", - "subdivision of skeletal system", - "circulatory system", - "abnormally decreased number of anatomical entity in the multicellular organism", - "cardiovascular system", - "process", - "epithelium", - "abnormal neural tube morphology", + "multicellular organismal reproductive process", + "Abnormality of the head", + "heart", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "sensory system", + "absent sperm in the independent continuant", + "pelvic region element", + "abnormal systemic artery morphology", + "male organism", + "abnormal hindlimb joint", + "reproduction", + "vessel", + "lateral structure", + "Microphthalmia", + "absent anatomical entity in the multicellular organism", + "Abnormal nasal morphology", + "postcranial axial skeleton", + "abnormal vein morphology", + "abnormal external ear morphology", + "decreased qualitatively developmental process", + "camera-type eye", + "All", + "Abnormal bone structure", + "male reproductive organ", + "abnormal blood cell morphology", + "abnormal cell", + "disconnected anatomical group", + "upper limb segment", + "biological_process", + "Aplasia/Hypoplasia affecting the anterior segment of the eye", + "Abnormality of the genital system", + "Abnormal facial shape", + "tube morphogenesis", + "leukocyte", + "delayed biological_process", + "systemic artery", + "organism substance", + "Abnormal heart valve physiology", + "changed biological_process rate", + "absent germ cell", + "Abnormal erythroid lineage cell morphology", + "abnormal peripheral nervous system", + "ear", + "transudate", + "Abnormal joint morphology", + "forelimb endochondral element", + "abnormal duodenum morphology", + "abnormal leukocyte morphology", "Abnormal respiratory system physiology", - "abnormal bone of pectoral complex morphology", - "urethral opening", - "camera-type eye", - "shape longitudinal arch of pes", - "Abnormality of the upper limb", - "embryo development", - "anatomical projection", - "Abnormal reproductive system morphology", - "systemic arterial system", + "multicellular organismal process", + "bone of pelvic complex", + "organ part", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormal hip joint morphology", + "neuron projection bundle", + "Abnormal spinal cord morphology", + "external male genitalia", + "abnormality of cranial nerve physiology", + "abnormal pigmentation", + "independent continuant", + "anatomical line between pupils", + "abnormal number of anatomical enitites of type anatomical entity", + "forelimb skeleton", + "immune system", + "endocrine system", + "decreased qualitatively reproductive process", + "gamete generation", + "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Abnormal ganglion morphology", + "hepatobiliary system", + "subdivision of skeletal system", + "Abnormal external genitalia", + "pulmonary valve", + "cellular organisms", + "vertebral element", "viscus", - "arterial blood vessel", - "Abnormal eye morphology", - "abnormal cardiovascular system morphology", - "abnormally formed anatomical entity in independent continuant", - "abnormal anterior segment of eyeball morphology", - "thoracic segment of trunk", - "umbilicus", - "vascular system", + "bone of free limb or fin", + "abnormal pedal digit morphology", + "abnormal ear", + "Abnormality of reproductive system physiology", + "abnormal size of head", + "abnormal external genitalia", + "radius endochondral element", + "Abnormal renal morphology", + "abnormal gamete generation", + "Abnormality of the curvature of the cornea", + "cell", + "abnormal interventricular septum morphology", + "Abnormality of the mouth", + "abnormal ductus arteriosus morphology", + "Finger syndactyly", + "limb", + "respiratory system", + "hip joint", + "abnormal ear morphology", + "abnormal number of anatomical enitites of type sperm", + "Abnormality of the cardiovascular system", "dorsal region element", - "Abnormality of the vasculature", - "abnormal cerebral hemisphere morphology", - "common carotid artery plus branches", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal cardiovascular system", - "abnormal common carotid artery plus branches morphology", - "quality", - "epithelial tube", - "abnormal digestive system morphology", + "abnormal opening of the anatomical entity", "Abnormal systemic arterial morphology", - "abnormal duodenum morphology", - "Abnormal cranial nerve physiology", - "nerve", - "peripheral nervous system", - "Abnormal neural tube morphology", - "paralysed anatomical entity", - "Abnormal pelvic girdle bone morphology", - "Clubbing", - "Upslanted palpebral fissure", - "forebrain", - "Eukaryota", - "ileum", - "abnormal synovial joint morphology", - "abnormal peripheral nervous system", - "aplasia or hypoplasia of uvea", - "future nervous system", - "increased reflex", - "forelimb", - "transudate", - "shape cornea", - "bone of free limb or fin", - "abnormal olfactory system morphology", + "multicellular anatomical structure", + "hematopoietic system", + "spermatogenesis", + "abnormal shape of palpebral fissure", + "abnormal cardiac atrium morphology in the heart", + "morphogenesis of embryonic epithelium", + "haploid cell", + "conceptus", + "abnormal vertebra morphology", + "internal genitalia", + "aplasia or hypoplasia of iris", + "Abnormality of skin pigmentation", + "abnormality of respiratory system physiology", + "prepuce of penis", + "concave 3-D shape anatomical entity", + "abnormal heart left ventricle morphology", + "leg bone", + "abnormal tracheobronchial tree morphology", + "abnormal external male genitalia", + "abnormal anatomical entity morphology in the brain", + "Abnormal ear morphology", + "abnormal craniocervical region", + "manual digit digitopodial skeleton", + "flat anatomical entity in independent continuant", + "cardiac ventricle", + "abnormal internal genitalia", + "ocular surface region", + "platelet", + "Growth abnormality", + "hip", + "primary neural tube formation", + "renal pelvis/ureter", + "male urethral meatus", + "reproductive organ", + "anus atresia", + "abnormal skull morphology", + "Short long bone", + "abnormality of nervous system physiology", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "abnormal aorta morphology", + "increased pigmentation in skin of body", + "Abnormality of the testis size", + "hip dislocation", + "Abnormal cellular phenotype", + "neural tube development", + "external genitalia", + "Hypertrophic cardiomyopathy", + "abnormal number of anatomical enitites of type cell", + "abnormal limb bone morphology", + "tunica fibrosa of eyeball", "Abnormal appendicular skeleton morphology", - "abnormal incomplete closing of the anatomical entity", - "pectoral appendage", - "bodily fluid", "abnormal anatomical entity morphology in the pectoral complex", - "abnormal limb long bone morphology", - "cranial nerve related reflex", - "Abnormal upper limb bone morphology", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal nervous system morphology", - "abnormal incomplete closing of the interatrial septum", + "Abnormality of the urinary system", + "abnormality of reproductive system physiology", + "abnormally localised anatomical entity", + "abnormal anatomical entity morphology in the skeleton of pelvic complex", + "Abnormal heart morphology", + "Proptosis", + "changed embryo development rate", + "hindlimb stylopod", + "Abnormal esophagus morphology", + "Anemia", + "morphological feature", + "Abnormality of metabolism/homeostasis", "forelimb zeugopod", - "multi-limb segment region", - "bone of jaw", - "organ", - "Abnormal cornea morphology", - "abnormal female reproductive system", - "abnormal nervous system morphology", - "vasculature of organ", - "Cranial nerve paralysis", - "abnormal cell", + "abnormal testis morphology", + "reproductive process", + "abnormally formed anatomical entity in independent continuant", + "body proper", + "abnormal respiratory tube morphology", + "Abnormal morphology of female internal genitalia", + "anatomical cluster", + "blood", + "phenotype", + "abnormal pigmentation in independent continuant", + "Abnormal involuntary eye movements", + "Abnormal tracheal morphology", + "process", + "subdivision of organism along main body axis", + "prominent forehead", + "abnormal incomplete closing of the arch of centrum of vertebra", + "segment of manus", + "Abnormality of the nose", + "developmental process involved in reproduction", + "Abnormal anterior chamber morphology", "abnormal innominate bone morphology", - "bone element", - "digit 1", - "upper jaw region", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "left cardiac chamber", - "abnormal vascular system morphology", - "Abnormal foot morphology", - "visual system", - "thoracic segment organ", - "limb bone", - "cranial skeletal system", - "abnormal vertebral column morphology", - "organism subdivision", - "vestibulo-auditory system", - "absent germ cell", - "paired limb/fin", - "Recurrent infections", - "response to stimulus", - "brain gray matter", - "forelimb endochondral element", - "Abnormal curvature of the vertebral column", - "pectoral appendage skeleton", - "Conotruncal defect", - "abnormal limb", - "abnormal peripheral nervous system morphology", - "simple eye", - "abnormal forelimb morphology", - "Abnormal carotid artery morphology", - "skeletal element", - "abnormal bony vertebral centrum morphology", - "internal naris", - "non-connected functional system", - "abnormal forelimb zeugopod morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormality of multicellular organism height", - "Abnormal forearm bone morphology", - "abnormal forehead morphology", - "Abnormal form of the vertebral bodies", - "Aplasia/hypoplasia of the extremities", - "skeleton of digitopodium", + "aplasia or hypoplasia of anatomical entity", + "limb long bone", + "compound organ", + "eye", + "abnormal synovial joint morphology", + "reproductive system", + "multi-limb segment region", + "ventricle of nervous system", + "paralysed anatomical entity", + "pelvic appendage", + "abnormal eyeball of camera-type eye", + "abnormal anterior uvea morphology", + "decreased size of the eyeball of camera-type eye", + "absent anatomical entity", + "cerebral cortex", + "tracheobronchial tree", + "malformed anatomical entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "Abnormality of the peripheral nervous system", + "trunk region element", "skeleton of pectoral complex", - "abnormal systemic artery morphology", + "specifically dependent continuant", + "abnormal autonomic nervous system morphology", + "ganglion of peripheral nervous system", + "Abnormal reflex", + "hindlimb joint", + "abnormal anatomical entity morphology", + "abnormally decreased number of anatomical entity in the independent continuant", + "Short palpebral fissure", + "Abnormal skeletal morphology", + "increased pigmentation", + "decreased spermatogenesis", + "anatomical structure development", + "arterial blood vessel", + "abnormal bone element mass density", + "main body axis", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Sloping forehead", "abnormal manual digit 5 morphology", - "Abnormality of the integument", - "vertebral centrum element", - "urethra", - "paired limb/fin segment", + "non-connected functional system", "external soft tissue zone", - "Abnormal skeletal morphology", - "Tetralogy of Fallot", - "abnormal size of skull", - "Abnormality of the musculoskeletal system", - "abnormal development of anatomical entity", - "ulna", - "trunk region element", - "anatomical entity", - "pectoral complex", - "abnormal great vessel of heart morphology", - "abnormal midface morphology", - "abnormal appendicular skeleton morphology", - "immune system process", - "tunica fibrosa of eyeball", - "abnormal developmental process", - "bone of pectoral complex", - "forelimb skeleton", - "abdominal segment of trunk", - "digit", - "endoderm-derived structure", - "Abnormal respiratory system morphology", - "Abnormal morphology of ulna", - "urethral meatus", - "layer of muscle tissue", - "head bone", - "Abnormality of the skeletal system", - "increased biological_process", + "digit plus metapodial segment", + "head", + "Dolichocephaly", + "common carotid artery plus branches", + "drooping eyelid", + "Abnormal cardiac ventricle morphology", + "abnormal small intestine morphology", + "Abnormality of brain morphology", + "abnormal heart morphology", + "appendage girdle region", + "anatomical structure morphogenesis", + "abnormal limb bone", + "abnormal spinal cord morphology", + "Hypogonadism", "arm bone", - "appendage girdle complex", + "urethral opening", + "Aganglionic megacolon", + "Abnormal nervous system morphology", + "sense organ", + "abnormal reproductive system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "Abnormality of head or neck", "abnormally fused manual digit and anatomical entity", - "endochondral bone", - "abnormally decreased number of leukocyte", - "irregular bone", - "abnormal ulna morphology", - "arch of centrum of vertebra", - "abnormal musculoskeletal movement", + "abnormally decreased functionality of the myocardium", + "Abnormal peripheral nerve morphology by anatomical site", + "Syndactyly", + "abnormal head morphology", + "digestive tract", + "abnormality of camera-type eye physiology", + "organism subdivision", + "subdivision of digestive tract", + "Abnormal pinna morphology", + "abnormally protruding anatomical entity", + "abnormal respiratory system morphology", + "respiratory airway", + "abnormal secondary palate morphology", + "venous system", + "musculoskeletal movement", + "decreased qualitatively biological_process", + "anatomical entity", + "abnormal trachea morphology", + "abnormal phenotype by ontology source", + "subdivision of trunk", + "behavior process", + "anterior chamber of eyeball", + "abnormal development of anatomical entity", + "increased biological_process", + "abnormal postcranial axial skeleton morphology", + "Abnormal ventriculoarterial connection", + "alimentary part of gastrointestinal system", + "abnormal renal system morphology", + "abnormal biological_process", + "abnormal cardiac ventricle morphology in the heart", + "Growth delay", + "kidney", + "embryo development", + "brain gray matter", + "Abnormal tracheobronchial morphology", + "subdivision of tube", + "Abnormal respiratory system morphology", + "Abnormal lens morphology", + "Multiple cafe-au-lait spots", + "system", + "transparent eye structure", "Abnormality of the respiratory system", - "abnormal skeletal system", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "Abnormal pulmonary valve morphology", - "Abnormal hand morphology", - "abnormal aortic valve morphology", - "Tracheoesophageal fistula", - "abnormality of cranial nerve physiology", - "Abnormality of body height", - "Abnormal palate morphology", - "Abnormality of limb bone morphology", - "phalanx of pes", - "biological_process", - "nervous system development", - "abnormal heart layer morphology", - "Abnormal forearm morphology", - "Abnormality of the hypothalamus-pituitary axis", - "penis", - "abnormal phalanx of pes morphology", - "Morphological central nervous system abnormality", - "phalanx endochondral element", - "limb skeleton subdivision", - "decreased qualitatively pigmentation", + "girdle skeleton", + "asymmetrically curved anatomical entity", + "Abnormal eye physiology", + "segment of autopod", + "thoracic segment of trunk", + "pes bone", + "abnormal bone of pelvic complex morphology", + "arm", + "Short stature", + "Abnormality of the vertebral column", + "abnormal digestive system", + "Abnormality of the digestive system", + "decreased anatomical entity mass", + "Abnormal morphology of the great vessels", + "pectoral complex", + "flat longitudinal arch of pes", + "abnormal bone of pectoral complex morphology", + "orifice", + "craniocervical region", + "abnormal developmental process", + "Abnormality of cardiovascular system morphology", + "abnormal respiratory system", + "Abnormal penis morphology", + "Intellectual disability", "abnormal ocular adnexa", - "Hydroureter", - "posterior nasal aperture", - "abnormally fused anatomical entity and digit", - "Neurodevelopmental abnormality", - "abnormal penis morphology", - "male urethral meatus", - "Abnormality of the female genitalia", - "abnormal testis morphology", - "Abnormal esophagus morphology", - "abnormal anterior uvea morphology", - "reproductive system", - "abnormal sensory perception of light stimulus", - "exocrine gland", - "abnormal male reproductive system morphology", - "entity", - "Abnormality of the curvature of the cornea", - "abnormally decreased functionality of the gonad", - "skeleton of manual digitopodium", - "axial skeletal system", - "decreased biological_process in multicellular organism", - "hypertrophic multicellular anatomical structure", - "Abnormal joint morphology", - "spermatogenesis", - "absent sperm", - "abnormal liver", - "abnormally fused anatomical entity and pedal digit", - "Aplasia/hypoplasia involving forearm bones", - "abnormality of nervous system physiology", - "abnormality of anatomical entity height", - "abnormal genitourinary system", - "Abnormality of connective tissue", - "aplasia or hypoplasia of eyeball of camera-type eye", - "independent continuant", - "abnormal orbital region", - "shape digit", - "curved anatomical entity", - "long bone", - "Abnormal spinal cord morphology", - "abnormal male reproductive system", - "Hyperpigmentation of the skin", - "epithelium development", - "manual digit 1 or 5", - "reproductive structure", - "obsolete cell", - "male reproductive organ", - "Umbilical hernia", - "abnormal reproductive system morphology", - "thoracic segment blood vessel", - "Abnormality of the gastrointestinal tract", + "embryonic structure", + "brain ventricle/choroid plexus", + "proximo-distal subdivision of respiratory tract", "Cognitive impairment", - "abnormal external genitalia", - "abnormal cornea morphology", - "Abnormal external genitalia", - "anterior region of body", - "Triphalangeal thumb", - "epithelial tube formation", - "abnormal pelvic girdle bone/zone morphology", - "skeleton of limb", - "multicellular organismal-level homeostasis", - "manus bone", - "nervous system cell part layer", - "skeleton", - "pelvic girdle region", - "individual digit of digitopodial skeleton", - "developing anatomical structure", - "Abnormal preputium morphology", - "integumental system", - "abnormal gamete", - "Abnormal nervous system physiology", - "anatomical structure", - "abnormally increased number of anatomical entity in the independent continuant", + "abnormal male reproductive system", + "abnormal mouth morphology", + "organ subunit", + "Abnormal neural tube morphology", + "ectoderm-derived structure", + "Aplasia/Hypoplasia of the testes", + "left cardiac chamber", + "Slanting of the palpebral fissure", + "Hip dislocation", "Morphological abnormality of the gastrointestinal tract", - "upper leg bone", - "Abnormality of the mouth", - "Abnormal penis morphology", - "lateral structure", - "limb", - "Abnormality of the hand", - "appendicular skeletal system", - "increased height of anatomical entity in independent continuant", - "germ cell", - "abnormality of cardiovascular system physiology", + "oral cavity", + "vestibulo-ocular reflex", + "neocortex", + "Abnormality of refraction", + "digit 5", + "abnormal long bone morphology", + "digitopodium bone", + "endoderm-derived structure", + "abnormal penis", + "germ line cell", + "bone element hypoplasia in independent continuant", + "abnormal artery morphology", + "respiratory tract", + "respiratory tube", + "glans", + "abnormality of male reproductive system physiology", + "tube", + "brain ventricle", + "future nervous system", + "skeleton", + "multicellular organism", + "thoracic cavity element", + "Nystagmus", + "esophagus", + "physiologic nystagmus", + "hemolymphoid system", + "Lower extremity joint dislocation", + "lower respiratory tract", + "visual system", + "abnormal camera-type eye morphology", + "cornea", + "abdominal wall", + "3-D shape anatomical entity", + "Abnormality of the ear", + "eyelid", + "abnormally decreased number of leukocyte", + "orbital region", "multicellular organism development", - "abnormal spermatogenesis", - "segment of manus", - "Joint dislocation", - "body proper", - "cellular process", + "Ventriculomegaly", "Abnormal anterior eye segment morphology", - "abnormal connective tissue", - "aortic valve", - "abnormal eyeball of camera-type eye", - "testis", - "shape eyelid", - "craniocervical region", - "Abnormality of the genital system", - "Deviation of the hand or of fingers of the hand", - "paralysed cranial nerve", - "abnormal vasculature", - "nerve of head region", - "upper urinary tract", - "hindlimb endochondral element", - "abnormally increased number of brain ventricle in the independent continuant", - "delayed biological_process", - "skeletal system", - "Neoplasm", - "system process", - "manual digit 1 phalanx", - "Abnormal calvaria morphology", - "abnormal forelimb zeugopod bone", - "increased height of the anatomical entity", - "external male genitalia", - "upper eyelid", - "Abnormal ear physiology", + "abnormal anatomical entity", + "Abnormality of the upper urinary tract", + "abnormal bony vertebral centrum morphology", + "abnormal alimentary part of gastrointestinal system", + "Abnormal carotid artery morphology", "Astigmatism", - "abnormal arm", - "decreased pigmentation in skin of body", - "abnormal small intestine morphology", - "Abnormal cerebral morphology", - "organ subunit", - "organ component layer", - "Ventricular septal defect", - "abnormality of immune system physiology", - "genitourinary system", - "multicellular organismal process", - "anterior segment of eyeball", - "cognition", - "subdivision of head", - "abnormal central nervous system morphology", - "Abnormal renal morphology", - "continuant", - "haploid cell", - "Abnormality of limbs", - "Abnormality of eye movement", - "abnormal alimentary part of gastrointestinal system morphology", - "material entity", - "Abnormal platelet count", - "abnormal head", - "asymmetrically curved cornea", - "face", - "abnormal craniocervical region", - "entire sense organ system", - "pelvic appendage skeleton", - "upper limb segment", - "Abnormal duodenum morphology", - "neural crest-derived structure", - "abdomen element", - "Abnormality of the orbital region", - "cranial neuron projection bundle", + "circulatory organ", + "uvea", + "shape cornea", + "paired limb/fin segment", + "pelvic girdle region", + "simple eye", + "abnormal posterior nasal aperture morphology", "curvature anatomical entity", - "heart vasculature", - "arm", - "respiratory tube", - "ocular surface region", - "Abnormality of enteric ganglion morphology", - "disconnected anatomical group", - "drooping anatomical entity", - "presumptive structure", - "abnormal limb morphology", - "Abnormal facial shape", - "eyeball of camera-type eye", - "curved anatomical entity in independent continuant", - "Duodenal stenosis", - "musculoskeletal system", - "abnormal nerve", - "Abnormality of refraction", - "appendage", - "homeostasis of number of cells", - "embryo", - "Aganglionic megacolon", - "changed biological_process rate", - "blood cell", - "abnormal spinal cord morphology", - "Atypical behavior", - "Neural tube defect", - "abnormally decreased number of hematopoietic cell", - "tracheobronchial tree", - "protein-containing material entity", - "abnormal autopod region morphology", - "abnormal shape of cornea", - "radius endochondral element", - "Abnormal morphology of the radius", - "abnormal respiratory tube morphology", + "abnormal orbital region", + "morphogenesis of an epithelium", "epithelial tube morphogenesis", - "alimentary part of gastrointestinal system", - "abnormal platelet", - "anatomical cluster", - "Abnormality of corneal shape", - "appendicular skeleton", - "Abnormality of blood and blood-forming tissues", - "Abnormal axial skeleton morphology", - "Abnormality of thrombocytes", - "facial skeleton", - "Aplasia/Hypoplasia of the cerebrum", - "abnormal male reproductive organ morphology", - "male organism", - "regional part of nervous system", - "shape anatomical entity", - "digit 5 plus metapodial segment", - "tube closure", - "Abnormal heart valve physiology", - "forelimb bone", - "Abnormal vestibular function", - "abnormal head morphology", - "head", - "oral cavity", - "abnormal respiratory system", - "herniated abdominal wall", - "male gamete", - "Abnormal size of the palpebral fissures", - "abnormality of respiratory system physiology", - "ectoderm-derived structure", - "Abnormal long bone morphology", - "systemic artery", - "abnormal size of head", - "manual digit 5 plus metapodial segment", - "structure with developmental contribution from neural crest", - "anatomical structure morphogenesis", - "orbital region", - "trachea", - "mouth", - "decreased size of the eyeball of camera-type eye", - "Abnormality of the digestive system", - "abnormal cornea, curved", - "abnormal tracheobronchial tree morphology", - "proximo-distal subdivision of respiratory tract", + "abnormal palpebral fissure", + "abnormal tube formation", + "circulatory system", + "Spina bifida", + "Aplasia/hypoplasia involving bones of the extremities", + "multicellular organismal-level homeostasis", + "anterior segment of eyeball", "chordate embryonic development", - "Short long bone", - "immaterial anatomical entity", - "endochondral element", - "abnormal amniotic fluid", - "Abnormality of the head", - "phenotype", - "anus", - "abnormal digit morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal forebrain morphology", - "erythroid lineage cell", - "pulmonary valve", - "flat bone", - "hematopoietic system", + "skeleton of digitopodium", + "embryonic epithelial tube formation", + "cranium", + "dermatocranium", + "Abnormal axial skeleton morphology", + "abnormal vertebral column", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "Abnormal ileum morphology", + "increased qualitatively biological_process in independent continuant", + "joint of girdle", + "neural tube closure", + "abnormal ileum morphology", + "abnormal eyelid morphology", + "manus", + "abnormal nose morphology", + "embryonic tissue", + "ileum", + "Ventricular septal defect", + "small intestine", + "Abnormal jaw morphology", + "irregular bone", + "Meckel diverticulum", + "trunk bone", + "Azoospermia", + "Abnormal small intestine morphology", + "skeleton of lower jaw", + "abnormal small intestine", + "anus", + "Abnormal skull morphology", + "Abnormal anus morphology", + "Abnormal ear physiology", + "ecto-epithelium", + "abnormal closing of the anatomical entity", + "abnormal anus", + "Abnormal spermatogenesis", + "anatomical entity atresia", + "abnormally fused manual digit and manual digit", + "sensory perception", + "Abnormality of corneal shape", + "abnormality of anatomical entity mass", + "abnormality of multicellular organism mass", "Abnormality of body weight", - "subdivision of tube", - "skin of body", - "multi-tissue structure", - "abnormal biological_process", - "abnormal pigmentation", - "lower respiratory tract", - "abnormality of renal system physiology", - "gray matter", - "abnormal ocular adnexa morphology", - "Abnormality of the eye", + "Weight loss", + "Decreased body weight", + "autopodial extension", + "growth", + "cardiac valve", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal craniocervical region morphology", "abnormal growth", - "respiratory system", - "changed biological_process rate in independent continuant", + "pelvic complex", + "Abnormality of the skin", + "outflow tract of ventricle", + "Abnormality of the choanae", + "abnormal iris morphology", + "abnormal cardiac ventricle morphology in the independent continuant", + "abnormal forelimb zeugopod bone", + "valve", + "abnormal platelet morphology", + "abnormal anatomical entity morphology in the manus", + "increased length of the anatomical entity", + "Cafe-au-lait spot", + "thoracic cavity blood vessel", + "aortic valve", + "abnormal internal ear", + "abnormal outflow part of left ventricle morphology", + "abnormal anatomical entity morphology in the heart", + "curvature anatomical entity in independent continuant", + "hypothalamus-pituitary axis", + "endochondral element", + "anatomical entity hypoplasia", + "abnormal cardiac ventricle morphology", + "motile cell", + "abnormal leg", + "internal ear", + "heart left ventricle", + "epithelium", + "autopodial skeleton", + "abnormal cardiac valve morphology in the independent continuant", + "Opisthokonta", + "Abnormality of digestive system morphology", + "Abnormality of the ocular adnexa", "gamete", - "Neurodevelopmental delay", - "late embryo", - "abnormal external male genitalia", - "digestive tract", - "abnormal ureter", - "abnormal palpebral fissure", - "Abnormality of the male genitalia", + "upper jaw region", + "Abnormal eyelid morphology", + "Abnormal facial skeleton morphology", + "multi organ part structure", + "increased length of the anatomical line between pupils", + "palpebral fissure", + "Abnormal ocular adnexa morphology", + "Upslanted palpebral fissure", + "manual digit plus metapodial segment", + "Abnormal bone ossification", + "female reproductive organ", + "ocular adnexa", + "obsolete multicellular organism reproduction", + "decreased developmental process", + "Abnormality of the palpebral fissures", + "Abnormal testis morphology", + "deviation of anatomical entity towards the middle", + "opaque anatomical entity", + "heart right ventricle", + "increased size of the anatomical entity", + "lens of camera-type eye", + "Cataract", + "abnormal lens of camera-type eye morphology", + "Atrial septal defect", + "drooping anatomical entity", + "clavate digit", + "shape eyelid", + "Ptosis", + "Abnormal cornea morphology", "gland", - "abnormal cardiac atrium morphology in the heart", - "abnormal postcranial axial skeleton morphology", - "abnormal systemic arterial system morphology", - "abnormal shape of continuant", - "neurocranium bone", - "pelvic girdle bone/zone", - "Abnormal peripheral nerve morphology by anatomical site", - "lower limb segment", - "limb endochondral element", - "zeugopod", - "abnormal esophagus morphology", - "behavior", - "anatomical conduit", - "bone element hypoplasia in face", - "blood vasculature", - "cornea", - "increased pigmentation", - "abnormal hematopoietic system", - "anatomical collection", - "embryo development ending in birth or egg hatching", - "subdivision of organism along main body axis", + "abnormal artery morphology in the independent continuant", + "Abnormality iris morphology", + "abnormal penis morphology", + "abnormal cranium morphology", + "myeloid cell homeostasis", "glans penis", - "abnormal respiratory system morphology", - "subdivision of trunk", - "abnormally decreased number of anatomical entity in the blood", - "Abnormal morphology of female internal genitalia", - "curvature anatomical entity in independent continuant", - "Phenotypic abnormality", - "heart right ventricle", - "cellular organisms", - "Abnormality of the testis size", - "increased length of the anatomical entity", - "shape anatomical entity in independent continuant", - "Absent testis", - "system", - "Aplasia/Hypoplasia involving bones of the skull", - "abnormal digestive system", - "subdivision of digestive tract", - "abnormal heart morphology", - "tube development", - "heart left ventricle", - "aplasia or hypoplasia of manual digit", "Neoplasm by anatomical site", - "tube", - "mandible", - "zeugopodial skeleton", + "olfactory system", + "Abnormality of the nervous system", "pedal digit digitopodial skeleton", - "abnormal anatomical entity", - "abnormal limb bone", - "abnormal blood vessel morphology", + "pelvic region of trunk", + "bony vertebral centrum", + "abnormal olfactory system morphology", + "abnormal nose", + "sperm", + "internal naris", + "olfactory organ", + "cranial skeletal system", + "nose", + "endocrine gland", + "posterior nasal aperture", + "decreased size of the anatomical entity in the pectoral complex", + "musculature of body", + "nerve of head region", + "internal naris atresia", + "Abnormal male urethral meatus morphology", + "male urethra", + "posterior nasal aperture atresia", + "Hypospadias", + "epicanthal fold", + "hindlimb long bone", + "excretory system", + "abnormal urethra", + "renal system", + "abnormal lower urinary tract", + "segment of pes", + "voluntary movement behavior", + "Renal hypoplasia/aplasia", + "thoracic segment organ", + "urethra", + "gray matter of telencephalon", + "urethral meatus", + "nervous system", + "abnormal face", + "Displacement of the urethral meatus", + "abnormally fused anatomical entity and manual digit", + "abnormal renal system", + "Abnormality of the urethra", + "abnormal limb", + "immaterial entity", + "Abnormality of the lower urinary tract", + "abnormal spermatogenesis", + "Abnormal shape of the palpebral fissure", + "Scoliosis", + "Abnormal curvature of the vertebral column", + "tube closure", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormality of the abdominal organs", + "autopod region", + "Abnormal forearm morphology", + "Abnormality of enteric nervous system morphology", + "regional part of nervous system", + "Abnormal midface morphology", + "Deviation of the 5th finger", + "regional part of brain", + "Visual impairment", + "ulna", + "abdomen", + "deviation of manual digit towards the middle", + "Abnormal vascular morphology", + "Abnormality of skull size", + "Abnormal pulmonary valve morphology", + "abnormal anterior chamber of eyeball morphology", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "telencephalon", + "Decreased head circumference", + "abnormality of renal system physiology", + "abnormal esophagus morphology", + "abnormal size of anatomical entity", + "Leukopenia", + "abnormal hematopoietic system", + "abnormal ocular adnexa morphology", + "abnormally decreased number of hematopoietic cell", + "semi-lunar valve", + "hematopoietic cell", + "nucleate cell", + "abnormal uvea morphology", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal number of anatomical enitites of type hematopoietic cell", + "digit 1 plus metapodial segment", + "synovial joint", + "Abnormality of the anus", + "abnormal immune system", + "pedal digitopodium region", + "abnormally decreased number of cell", + "Functional abnormality of the inner ear", + "pedal digit", + "haemolymphatic fluid", + "abnormally decreased number of leukocyte in the blood", + "axial skeleton plus cranial skeleton", + "Abnormal leukocyte morphology", + "abnormal number of anatomical entities of type anatomical entity in blood", + "abnormal kidney", + "abnormal number of anatomical enitites of type leukocyte", + "Abnormality of thrombocytes", + "Abnormal immune system morphology", + "abnormally decreased number of anatomical entity in the multicellular organism", + "digit 5 plus metapodial segment", + "Myelodysplasia", + "abnormal immune system morphology", + "Hematological neoplasm", + "Reduced bone mineral density", + "abnormal size of brain ventricle", + "nerve", + "Frontal bossing", + "zone of organ", + "increased size of the brain ventricle", + "Abnormality of vision", + "Non-obstructive azoospermia", + "increased size of the anatomical entity in independent continuant", + "central nervous system gray matter layer", + "chamber of eyeball", + "pedal digit bone", + "cardiac atrium", + "Abnormality of the integument", + "delayed growth", + "Abnormality of the endocrine system", + "forelimb", + "skeleton of pelvic complex", + "abnormal endocrine system", + "abdominal segment of trunk", + "Conotruncal defect", + "digestive system gland", + "musculoskeletal system", + "abdominal segment element", + "glandular system", + "jaw skeleton", + "abnormal uterus morphology", + "hindlimb bone", + "exocrine gland", + "Decreased fertility", + "behavior", + "abdomen element", + "Abnormality of the liver", + "liver", + "abnormal hypothalamus-pituitary axis", + "increased anatomical entity length in independent continuant", + "Hypertelorism", + "abnormally fused pedal digit and anatomical entity", + "abnormal location of anatomical entity", + "Cardiomyopathy", + "flat bone", + "immaterial anatomical entity", + "abnormal anatomical entity, curved", + "anatomical line", "non-material anatomical boundary", - "leg bone", - "Abnormality of digestive system morphology", - "abnormal head bone morphology", - "abnormal leg", - "abnormal artery morphology", - "musculoskeletal movement", - "digit 1 or 5", - "Intellectual disability", - "abnormal vestibulo-ocular reflex", - "Decreased anatomical entity mass", - "abnormal small intestine", - "abnormal penis", - "Abnormal cell morphology", - "thoracic cavity element", - "abnormal phenotype by ontology source", - "multicellular anatomical structure", - "increased biological_process in independent continuant", - "manual digitopodium bone", - "abnormal skeletal system morphology", - "abnormally protruding anatomical entity", - "absent sperm in the independent continuant", - "occurrent", - "clavate digit", - "endocrine gland", + "abnormal anatomical entity topology in independent continuant", + "abnormal anatomical entity length", + "cavitated compound organ", + "Abnormal duodenum morphology", + "duodenum", + "Abnormality of the lower limb", + "skeleton of pedal digitopodium", + "skeleton of pedal acropodium", + "vertebral centrum element", + "pelvic appendage skeleton", + "hindlimb endochondral element", + "skeleton of pes", "abnormal incomplete closing of the interventricular septum", - "Abnormal bone ossification", - "Abnormal tracheobronchial morphology", - "Abnormal tracheal morphology", - "abnormal alimentary part of gastrointestinal system", - "tube formation", - "ulna endochondral element", - "autopod region", - "compound organ", - "nose", - "Abnormality of the genitourinary system", - "deviation of manual digit", + "Abnormal toe morphology", + "pes", + "abnormal phalanx morphology", + "Choanal atresia", + "acropodial skeleton", + "digitopodium region", "3-D shape anatomical entity in independent continuant", - "digestive system element", - "ear", - "aplasia or hypoplasia of iris", - "Abnormality of the ocular adnexa", - "vessel", - "forelimb long bone", - "cell", - "Spinal dysraphism", - "phenotype by ontology source", - "Abnormality of enteric nervous system morphology", - "gamete generation", + "Abnormal digit morphology", + "Duodenal stenosis", + "Abnormal foot morphology", + "Hypermelanotic macule", + "digit", + "abnormal hindlimb morphology", + "clavate anatomical entity", + "Hydroureter", + "Abnormal uterus morphology", + "Abnormal oral morphology", + "abnormal digit morphology", + "shape forehead", + "posterior region of body", + "individual digit of digitopodial skeleton", + "phalanx endochondral element", + "abnormal forehead morphology", + "Abnormal lower limb bone morphology", + "abnormal digit", + "leg", + "abnormally decreased number of anatomical entity in the blood", + "phalanx of pes", + "phalanx", + "abnormal skeletal system morphology", + "lower limb segment", + "abnormal autopod region morphology", + "nervous system cell part layer", + "aplasia or hypoplasia of uvea", + "abnormal pes morphology", + "abnormal phalanx of pes morphology", + "genitourinary system", + "Limb undergrowth", + "Abnormality of the kidney", + "abnormal kidney morphology", + "skull", + "femur", + "Decreased fertility in males", + "primary circulatory organ", + "aplasia or hypoplasia of palatine uvula", + "abnormal joint of girdle morphology", + "anatomical projection", + "Abnormal aortic valve morphology", + "midface", + "abnormal soft palate morphology", + "abnormal mouth", + "Abnormal soft palate morphology", "shape palpebral fissure", - "tissue development", + "abnormal palatine uvula morphology", + "anatomical cavity", + "abnormal midface morphology", + "palatine uvula", + "Abnormal erythrocyte morphology", + "soft palate", + "abnormal oral cavity morphology", + "Abnormal oral cavity morphology", + "abnormal asymmetry of face", + "abnormal integument", + "abnormal cardiac valve morphology", "Localized skin lesion", - "hemolymphoid system", - "material anatomical entity", + "Abnormal 5th finger morphology", + "Abnormal thumb morphology", + "aplasia or hypoplasia of ulna", + "manual digit bone", + "abnormal biological_process in independent continuant", + "non-functional kidney", + "decreased size of the anatomical entity", + "Abnormal cerebral cortex morphology", + "forebrain", + "increased qualitatively biological_process", + "abnormal cell morphology", + "anatomical collection", + "Macule", + "eyeball of camera-type eye", + "abnormal upper urinary tract", + "abnormal skin of body", + "abnormal nerve", + "abnormally increased number of anatomical entity in the independent continuant", + "limb joint", + "Hyperpigmentation of the skin", + "Abnormality of skin morphology", + "integument", + "abnormality of kidney physiology", + "changed biological_process rate in independent continuant", + "increased biological_process in independent continuant", + "ulna hypoplasia", + "increased biological_process in skin of body", + "abnormal cornea, curved", + "pigmentation", + "increased pigmentation in independent continuant", + "skeleton of manus", + "abnormal cardiac valve morphology in the heart", + "Abnormality of the hand", + "bone of hip region", + "Aplasia/hypoplasia of the extremities", + "Aplasia/Hypoplasia of fingers", + "abnormal manus", + "decreased pigmentation in skin of body", + "Abnormal finger morphology", + "Aplasia/hypoplasia involving bones of the hand", + "Aplasia/hypoplasia involving the skeleton", + "abnormal manus morphology", + "vascular system", + "abnormal anterior segment of eyeball morphology", + "aplasia or hypoplasia of skeleton", + "male reproductive system", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "Abnormal internal genitalia", + "abnormally fused anatomical entity and digit", + "abnormal developmental process involved in reproduction", + "abnormally fused digit and anatomical entity", + "appendage", + "abnormally fused digit and digit", + "Clinodactyly of the 5th finger", + "anatomical space", + "abnormally fused anatomical entity and anatomical entity", + "biogenic amine secreting cell", + "ossification", + "Abnormality of bone mineral density", + "manual digit 5", + "cardiac chamber", + "abnormal spatial pattern of anatomical entity", + "appendicular skeletal system", + "abnormal location of eyeball of camera-type eye", + "deviation of manual digit 5", + "trunk", + "manual digit 5 plus metapodial segment", + "digit 1 or 5", + "deviation of digit towards the middle", + "abnormal late embryo", + "Deviation of the hand or of fingers of the hand", + "Abnormality of the hypothalamus-pituitary axis", + "deviation of anatomical entity", + "deviation of manual digit", + "paired limb/fin skeleton", + "Abnormal nervous system physiology", + "Hypoplasia of the ulna", + "hypertrophic multicellular anatomical structure", + "dermal skeletal element", + "decreased length of anatomical entity in independent continuant", + "decreased height of the anatomical entity", + "Abnormality of the eye", + "decreased size of the ulna", + "forelimb zeugopod bone hypoplasia", + "Upper limb undergrowth", + "abnormal incomplete closing of the interatrial septum", + "intestine", + "Decreased multicellular organism mass", + "Aplasia/Hypoplasia of the ulna", + "aplasia or hypoplasia of telencephalon", + "decreased size of the anatomical entity in the independent continuant", "Short forearm", - "Abnormality of cardiovascular system morphology", - "Hematological neoplasm", - "abnormally fused digit and digit", - "external genitalia", + "increased height of the secondary palate", + "Tetralogy of Fallot", + "Forearm undergrowth", + "Aplasia/hypoplasia involving forearm bones", + "articulation", + "skeletal joint dislocation", + "articular system", + "peripheral nervous system", + "abnormal hip joint morphology", + "pelvic girdle skeleton", + "pelvic girdle bone/zone", + "systemic arterial system", + "Abnormal cerebral morphology", + "Joint dislocation", + "Micrognathia", + "anatomical entity dislocation", + "Abnormal localization of kidney", + "abnormal skeletal joint morphology", + "skin of body", + "cerebral hemisphere gray matter", + "abnormal pelvic girdle bone/zone morphology", + "abnormal embryonic tissue morphology", + "zone of bone organ", + "Abnormal hip bone morphology", + "Aplasia/Hypoplasia of the radius", + "Abnormal pelvic girdle bone morphology", + "abnormal external ear", + "girdle bone/zone", + "abnormal jaw skeleton morphology", + "Abnormality of the face", + "synovial joint of pelvic girdle", + "abnormal hindlimb stylopod morphology", + "Abnormality of femur morphology", + "abnormal femur morphology", + "dentary", + "femur endochondral element", + "stylopod", + "upper leg bone", + "Abnormality of enteric ganglion morphology", + "Unusual infection", + "abnormal enteric ganglion morphology", + "Abnormal autonomic nervous system morphology", + "abnormal skin of body morphology", + "Abnormal peripheral nervous system ganglion morphology", + "enteric ganglion", + "abnormal face morphology", + "axial skeletal system", + "abnormal intestine morphology", + "autonomic ganglion", + "parasympathetic nervous system", + "Abnormality of the autonomic nervous system", + "autonomic nervous system", + "Abnormal hand morphology", + "abnormal ganglion of peripheral nervous system morphology", + "parasympathetic ganglion", + "enteric nervous system", + "abnormal ocular surface region morphology", + "abnormal ganglion morphology", + "abnormal vascular system morphology", + "cortex of cerebral lobe", + "abnormal frontal cortex morphology", + "tetrapod frontal bone", "abnormal roof of mouth morphology", - "abnormal lens of camera-type eye morphology", - "abnormal face", - "vertebral element", - "Myelodysplasia", - "mesoderm-derived structure", - "increased size of the brain ventricle", - "Anemia of inadequate production", - "multicellular organism" + "prominent anatomical entity" ], "has_phenotype_count": 106, "highlight": null, @@ -8747,1126 +8747,1126 @@ "namespace": "MONDO", "has_phenotype": [ "HP:0040012", - "HP:0000107", - "HP:0001245", - "HP:0025023", "HP:0002984", "HP:0009777", + "HP:0001627", + "HP:0001245", + "HP:0002023", "HP:0000126", "HP:0000028", "HP:0009778", "HP:0009623", - "HP:0001627", + "HP:0000107", "HP:0003241", "HP:0004322", - "HP:0002023", - "HP:0003774" + "HP:0003774", + "HP:0025023" ], "has_phenotype_label": [ "Chromosome breakage", - "Renal cyst", - "Small thenar eminence", - "Rectal atresia", "Hypoplasia of the radius", "Absent thumb", + "Abnormal heart morphology", + "Small thenar eminence", + "Anal atresia", "Hydronephrosis", "Cryptorchidism", "Short thumb", "Proximal placement of thumb", - "Abnormal heart morphology", + "Renal cyst", "External genital hypoplasia", "Short stature", - "Anal atresia", - "Stage 5 chronic kidney disease" + "Stage 5 chronic kidney disease", + "Rectal atresia" ], "has_phenotype_closure": [ - "UPHENO:0086132", - "UPHENO:0002411", - "UPHENO:0002442", - "UBERON:0004121", - "UBERON:0000161", - "UPHENO:0086644", - "UPHENO:0080351", - "HP:0001507", - "GO:0040007", - "UPHENO:0075159", - "HP:0001510", - "UPHENO:0080352", - "UPHENO:0081424", - "HP:0003241", - "UBERON:0010314", - "UBERON:0007100", - "UBERON:0005178", - "UPHENO:0076776", - "UPHENO:0080362", - "UBERON:0015228", - "UBERON:0002075", - "UPHENO:0076810", - "HP:0030680", - "HP:0001626", - "UPHENO:0084834", - "HP:0004097", - "UPHENO:0084829", - "UPHENO:0084841", - "HP:0009381", - "HP:0011927", - "UPHENO:0046624", - "UPHENO:0046411", - "UPHENO:0081755", - "UPHENO:0080382", - 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"UPHENO:0086128", - "GO:0006139", - "HP:0010944", - "UPHENO:0087973", - "UPHENO:0088186", - "UBERON:0000025", - "UPHENO:0001072", - "HP:0034242", - "UBERON:0000323", - "UPHENO:0001478", - "UPHENO:0065599", - "UBERON:5002544", - "UPHENO:0008668", - "HP:0001167", + "NCBITaxon:33154", + "HP:0002242", + "UPHENO:0002714", + "UPHENO:0087006", + "NCBITaxon:2759", "UBERON:5001463", - "UPHENO:0081790", - "HP:0009777", - "HP:0002589", - "UPHENO:0080099", - "UBERON:0001224", - "UPHENO:0080325", - "UBERON:0012354", - "UBERON:0004381", - "UBERON:0012140", - "UBERON:0001463", - "UBERON:0004481", - "UPHENO:0026183", - "UBERON:0011676", - "UPHENO:0084766", - "UPHENO:0001002", - "HP:0034058", - "HP:0001172", - "HP:0001446", + "UPHENO:0009382", + "UBERON:0008837", + "UPHENO:0002905", + "HP:0000077", + "UBERON:0002544", + "UPHENO:0086700", + "UPHENO:0026506", + "UBERON:0019221", + "UPHENO:0081466", + "UBERON:0004765", + "UBERON:0000467", + "UBERON:0001015", + "UPHENO:0080114", + "HP:0001155", + "UBERON:0015001", + "UPHENO:0005433", + "UPHENO:0008523", "UPHENO:0006910", - "UBERON:0001968", - "UPHENO:0081451", - "UPHENO:0086956", - "UBERON:5002389", - "UPHENO:0076724", - "UPHENO:0026028", + "UBERON:0005451", + "UBERON:0001442", + "HP:0000001", + "UPHENO:0018390", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0002101", + "UPHENO:0075195", + "UPHENO:0086132", + "HP:0006501", + "UBERON:0008785", + "GO:0010558", + "UPHENO:0002786", + "UBERON:0004710", + "UPHENO:0075893", + "UPHENO:0050108", + "HP:0000107", + "UBERON:0004708", + "UBERON:0000061", + "GO:1901360", + "GO:0032504", + "UPHENO:0075159", + "HP:0040070", "HP:0033127", - "UPHENO:0087349", - "HP:0009824", - "HP:0045060", - "UBERON:0003460", - "UBERON:0003607", - "UPHENO:0046505", - "UPHENO:0080377", - "UPHENO:0085874", - "UBERON:0002495", - "HP:0011277", - "UBERON:0010740", - "HP:0009115", - "UPHENO:0076735", + "UBERON:0001630", + "HP:0011425", + "UBERON:0012140", "UBERON:0010363", - "UPHENO:0076740", - "UPHENO:0078452", - "UBERON:0003466", - "NCBITaxon:33208", - "UPHENO:0075893", - "UBERON:0010741", - "UBERON:0008962", - "UPHENO:0050021", - "UPHENO:0002964", - "UBERON:0002544", - "UBERON:0015001", - "HP:0011844", - "UPHENO:0002714", - "UBERON:0010912", - "HP:0000924", - "UBERON:0004176", - "UBERON:0002428", - "UPHENO:0046538", + "GO:0044237", + "UBERON:0001474", "GO:0006259", - "OBI:0100026", - "HP:0009826", - "HP:0040068", - "GO:0010468", - "HP:0010461", - "HP:0004378", - "HP:0000002", - "HP:0011842", - "HP:0000032", - "UBERON:0004288", - "UBERON:0000160", - "UBERON:0004120", - "UPHENO:0020041", - "UPHENO:0002751", + "UBERON:0002100", + "UPHENO:0082875", + "UBERON:0010708", + "UPHENO:0084766", + "GO:0046483", + "UBERON:0015212", + "UBERON:0013765", + "UBERON:0012139", + "UPHENO:0012541", "UBERON:0002204", - "HP:0040072", + "UPHENO:0020041", + "UBERON:0003460", + "UPHENO:0001002", + "HP:0009601", + "UBERON:0003607", + "UBERON:0001423", + "HP:0009826", + "UBERON:0002529", + "UBERON:0006717", + "UPHENO:0001003", + "UPHENO:0076727", + "UPHENO:0084763", + "UPHENO:0020584", "UBERON:0002091", - "UBERON:0019231", + "UBERON:0010000", + "UPHENO:0020950", + "UPHENO:0002880", + "UBERON:0012475", + "HP:0009824", + "UPHENO:0088186", + "HP:0009815", + "HP:0006503", + "UBERON:0010758", + "UPHENO:0079872", + "GO:0019953", + "HP:0045060", + "UPHENO:0086633", + "UBERON:0005172", + "UPHENO:0002803", + "UBERON:0011584", + "UBERON:0000026", + "UBERON:0000075", + "UPHENO:0080352", + "UBERON:0015061", + "UPHENO:0002833", + "HP:0011842", + "UPHENO:0075696", + "HP:0000027", + "UPHENO:0069294", + "UPHENO:0080126", + "UBERON:0001440", + "HP:0001167", + "HP:0040064", + "UBERON:0002513", "GO:0031323", - "UBERON:0011249", - "UBERON:0010703", + "GO:0022414", + "UPHENO:0080325", + "UPHENO:0002642", + "UPHENO:0081091", + "UPHENO:0002378", + "UPHENO:0076710", + "BFO:0000040", + "UPHENO:0049990", + "UPHENO:0050121", + "HP:0011314", + "UPHENO:0012274", "UBERON:0002113", - "UBERON:0015021", - "UBERON:0007272", 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"UPHENO:0002896", + "RO:0002577", + "HP:0010461", + "UBERON:5002389", + "BFO:0000003", + "PR:000050567", + "GO:0010556", + "UBERON:0007272", + "UPHENO:0088142", + "BFO:0000020", + "UBERON:0012354", + "UPHENO:0087802", + "UPHENO:0086956", + "UBERON:0000475", "UPHENO:0053644", - "HP:0009601", + "UBERON:0002470", + "UPHENO:0081790", + "UBERON:0004375", + "UPHENO:0076810", "HP:0005773", - "UBERON:0006866", - "UBERON:0001442", - "UBERON:0001052", - "UPHENO:0063565", - "HP:0011793", - "UPHENO:0046540", - "UBERON:0013765", - "UBERON:0005409", - "UPHENO:0074228", - "HP:0002034", - "UPHENO:0046707", - "UPHENO:0026506", - "UBERON:0001555", - "UPHENO:0076803", - "NCBITaxon:33154", - "UBERON:0014793", - "NCBITaxon:131567", - "UPHENO:0049940", - "UPHENO:0008523", - "NCBITaxon:1", - "HP:0025033", - "UPHENO:0076773", - "HP:0009380", - "HP:0008669", + "UBERON:0002428", + "UBERON:0010740", + "UPHENO:0081792", + "HP:0000126", + "CL:0000300", + "HP:0000083", + "UPHENO:0005597", + "HP:0025354", + "UPHENO:0081433", + "UPHENO:0002442", + "UBERON:0002389", + "UPHENO:0046538", + "UPHENO:0087349", + "UBERON:0000468", + "HP:0005922", + "UPHENO:0026183", + "UPHENO:0084771", + "UBERON:0005178", + "UPHENO:0049701", + "UPHENO:0081313", + "GO:0048232", + "UPHENO:0086172", "UBERON:0000059", - "UBERON:0001007", - "UBERON:0000064", - "HP:0002023", - "UBERON:0005181", - "UPHENO:0080369", - "HP:0011100", - "UBERON:0010707", - "UPHENO:0002833", - "HP:0011024", - "NCBITaxon:6072", - "UBERON:0001062", - "UPHENO:0084124", - "CL:0000408", - "UBERON:0013522", - "HP:0010935", + "HP:0009115", + "GO:0031049", + "UBERON:0002075", + "GO:0006725", + "UPHENO:0087501", + "UBERON:0011582", + "UPHENO:0052178", + "HP:0040072", + "UBERON:0010912", + "UPHENO:0026028", + "UPHENO:0063565", + "UPHENO:0080362", + "UPHENO:0086128", "UBERON:0002398", - "UBERON:0000922", - "UPHENO:0081091", - "UBERON:0015410", - "HP:0025023", - "UBERON:0011584", - "HP:0004322", - "HP:0001627", - "GO:0010629", - "GO:0006807", - "GO:0044238", - "UBERON:0000383", - "UPHENO:0015280", - "UPHENO:0002649", + "UBERON:0009569", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0004535", + "UBERON:0003103", + "UBERON:0001009", + "UBERON:0000948", + "NCBITaxon:6072", + "UPHENO:0076776", "UBERON:0000915", - "UBERON:0012361", - "HP:0001245", - "UBERON:0019221", - "BFO:0000020", - "UBERON:0007269", - "UBERON:0004765", - "GO:0006725", - "UPHENO:0002816", - "UBERON:0005177", - "UBERON:0002529", - "UPHENO:0069294", - "UBERON:0001630", - "HP:0000080", - "PR:000050567", - "HP:0040064", - "UPHENO:0002905", - "UBERON:0004480", - "UPHENO:0063639", - "UPHENO:0084448", - "UPHENO:0009382", - "GO:0071704", - "UPHENO:0084763", - "UBERON:0012139", - "UBERON:0005090", - "UPHENO:0049587", - "UBERON:0002470", - "GO:0032501", - "HP:0000126", - "UBERON:0005451", - "HP:0009623", + "UBERON:0005181", + "UBERON:0015410", + "UPHENO:0076803", "UPHENO:0002655", - "UBERON:0002389", - "UBERON:0006717", - "UPHENO:0002708", - "UPHENO:0000543", - "UPHENO:0076718", + "UBERON:0004489", "UBERON:0002471", - "UPHENO:0050116", - "UBERON:0003103", - "UPHENO:0068971", - "GO:0031049", - "UBERON:0003135", - "UBERON:0008878", - "HP:0002817", - "UPHENO:0081423", - "UBERON:0010712", - "UPHENO:0084771", - "UBERON:0017716", - "UPHENO:0076692", - "UPHENO:0069254", - "UBERON:0008785", - "UBERON:0004710", - "HP:0000107", - "UPHENO:0002786", - "UPHENO:0076710", - "UPHENO:0002830", - "UPHENO:0076723", - "CL:0000000", + "UPHENO:0081755", + "UPHENO:0002816", + "UBERON:0011143", + "UPHENO:0053580", + "GO:0006325", + "UPHENO:0063639", + "HP:0011844", + "HP:0001227", + "UBERON:0034925", + "HP:0001421", + "UPHENO:0002832", + "GO:0032502", + "UPHENO:0063632", + "HP:0003011", + "HP:0001446", + "UBERON:0000161", + "UPHENO:0084841", + "UBERON:0000383", + "UBERON:0006048", "UBERON:0007271", - "HP:0034915", - "UBERON:0010538", - "UPHENO:0005651", - "UBERON:0002102", - "UPHENO:0086635", - "UPHENO:0018390", - "UBERON:0010708", - "HP:0001155", - "UPHENO:0088142", - "UBERON:0003606", - "UPHENO:0087006", - "HP:0006265", - "HP:0000079", - "RO:0002577", - "HP:0005922", - "UPHENO:0078606", - "UPHENO:0002896", - "UPHENO:0085873", - "UPHENO:0002647", - "HP:0009815", - "UPHENO:0075195", - "UBERON:0010758", - "BFO:0000040", + "HP:0009127", + "UBERON:0007269", + "UBERON:0004480", + "UBERON:0004481", + "HP:0001245", + "HP:0004378", + "UPHENO:0046505", + "UPHENO:0086644", + "UPHENO:0079876", + "UBERON:0001007", + "HP:0011793", + "HP:0025033", + "HP:0011805", + "UPHENO:0086682", + "UBERON:0000025", + "UBERON:0034929", + "HP:0002250", + "HP:0009380", + "UPHENO:0074228", + "UBERON:0000990", + "UPHENO:0084448", "UBERON:0001245", - "UPHENO:0081341", - "UPHENO:0087346", - "HP:0000028", - "UBERON:0015212", - "GO:0031052", - "UBERON:0013702", - "UBERON:0002101", - "HP:0000078", - "GO:0006325", + "GO:0006807", "UPHENO:0002839", - "UBERON:0009569", - "UBERON:0013701", - "UBERON:0011143", - "UBERON:0001009", - "UPHENO:0002832", - "HP:0010946", - "HP:0012210", - "UBERON:0004054", - "UPHENO:0086700", - "UBERON:0004375", - "GO:0005623", - "GO:0009889", - "UPHENO:0031839", - "GO:0071824", - "UPHENO:0002642", - "HP:0000027", - "UPHENO:0002332", - "UPHENO:0076727", - "UPHENO:0063629", - "UPHENO:0002803", - "UPHENO:0075949", - "GO:0009890", - "GO:0016043", "HP:0025031", - "HP:0012718", - "UPHENO:0002378", - "UPHENO:0005597", - "HP:0003011", - "UPHENO:0020950", - "UBERON:0008837", - "UBERON:0000153", - "UPHENO:0084761", - "UPHENO:0052178", - "NCBITaxon:2759", - "UBERON:0000468", + "UBERON:0036295", "UBERON:0004907", - "UPHENO:0087802", - "UBERON:0000489", - "HP:0001197", - "HP:0002818", - "HP:0002250", - "UBERON:0000916", - "UBERON:0010000", - "HP:0001939", - "UBERON:0004489", - "UBERON:0004122", - "HP:0000001", - "UPHENO:0076783", - "UPHENO:0075902", - "HP:0012732", - "UPHENO:0002725", - "GO:0050794", - "HP:0012622", - "UBERON:0011216", - "UPHENO:0063632", - "HP:0000083", - "GO:0031327", - "HP:0009127", - "UBERON:0000465", - "UPHENO:0087547", - "UPHENO:0012274", - "UBERON:0000062", - "UPHENO:0026181", - "BFO:0000003", - "HP:0005927", - "HP:0006496", - "UBERON:0002100", - "UPHENO:0050113", - "UPHENO:0001001", - "UPHENO:0049700", - "HP:0006501", - "GO:1901360", - "UPHENO:0076779", - "UBERON:0004921", - "UBERON:5006048", + "HP:0000924", + "UBERON:0004121", + "HP:0034915", + "UPHENO:0063599", + "GO:0031326", + "UPHENO:0065599", + "HP:0034058", + "UBERON:0000064", "UBERON:0001008", - "GO:0043933", - "GO:0010556", - "UPHENO:0081792", + "UPHENO:0015280", + "GO:0016043", + "UPHENO:0075902", + "HP:0010946", + "UPHENO:0080382", + "GO:0048609", + "GO:0003006", + "UBERON:0001224", + "HP:0001197", + "UBERON:0000922", + "HP:0010945", + "UPHENO:0075949", + "UPHENO:0002332", + "HP:0012874", + "UPHENO:0084132", + "UPHENO:0076718", + "UPHENO:0005651", + "HP:0003241", + "HP:0010935", + "UPHENO:0049940", + "HP:0000119", + "UBERON:0007100", + "UPHENO:0005016", + "UBERON:0000323", "UPHENO:0087427", - "GO:0043170", - "UBERON:0012141", - "UPHENO:0080126", - "UBERON:0005172", - "GO:0046483", - "UBERON:0001440", - "GO:0034641", - "UBERON:0012475", - "UBERON:0000481", - "HP:0011314", - "UBERON:0005173", - "UPHENO:0049874", - "PATO:0000001", - "UPHENO:0086172", - "BFO:0000004", - "UPHENO:0052778", - "UPHENO:0079872", + "HP:0034242", + "UBERON:8450002", + "UBERON:0000916", "UBERON:0002417", - "HP:0025354", - "UPHENO:0049873", - "UPHENO:0049748", - "GO:0065007", - "UBERON:0001423", + "UBERON:0005173", + "OBI:0100026", + "UPHENO:0001072", + "UBERON:0034923", + "UPHENO:0084834", + "UBERON:0004054", + "UBERON:0008962", + "UBERON:0001463", + "HP:0012210", + "UPHENO:0076779", + "UBERON:0010538", + "UPHENO:0001478", + "UBERON:0010712", + "HP:0000080", + "UPHENO:0077426", + "UBERON:0000079", "UPHENO:0086201", - "UBERON:0002513", - "UBERON:0000475", - "UBERON:0006058", - "GO:0006996", - "UBERON:0000477", - "UPHENO:0081433", - "HP:0001421", - "UPHENO:0081466", - "UPHENO:0076703", - "GO:0019222", - "UBERON:0001015", - "UPHENO:0001005", - "UPHENO:0086198", - "UBERON:0036295", - "UBERON:0005881", - "GO:0048232", - "UPHENO:0081204", - "HP:0011297", - "UPHENO:0075696", - "GO:0050789", - "UPHENO:0050121", - "HP:0000118", - "HP:0002813", - "UBERON:0000463", - "UPHENO:0001003", - "HP:0003220", - "UBERON:0000026", - "UPHENO:0050845", - "HP:0011017", - "GO:0071840", - "HP:0011805", - "GO:0044237", - "HP:0000035", - "GO:0031326", - "UBERON:0006048", - "UPHENO:0005433", - "BFO:0000002", - "GO:0008152", - "GO:0010605", - "UBERON:0001460", - "GO:0031324", - "UBERON:8450002", - "GO:0010558", - "UBERON:0004708", - "CL:0000019", - "HP:0009821", - "UPHENO:0012541", - "GO:0009892", - "BFO:0000015", - "UPHENO:0080079", - "UBERON:0011582", - "UPHENO:0063599", - "UPHENO:0087846", - "UBERON:0001434", - "UPHENO:0002536", - "GO:0009987", - "GO:0090304", - "UBERON:0004535", - "HP:0000119", + "UPHENO:0085873", + "CL:0000586", + "HP:0000028", + "UPHENO:0081423", + "UBERON:0008878", + "UBERON:0005409", + "HP:0001627", + "UPHENO:0049970", + "UPHENO:0003055", + "UBERON:0005156", + "GO:0000003", + "HP:0000811", + "HP:0012243", + "UPHENO:0085194", + "HP:0001172", + "HP:0002973", + "UBERON:0011676", + "HP:0000025", + "UPHENO:0049985", + "HP:0010944", + "HP:0001510", + "UPHENO:0086023", + "UPHENO:0080369", + "CL:0000408", + "GO:0007283", + "UBERON:0000481", + "UBERON:0004288", + "UPHENO:0002830", + "UBERON:0015228", + "CL:0000015", + "UPHENO:0002597", + "GO:0007276", + "UBERON:0000991", + "HP:0011024", + "UBERON:0011216", + "UBERON:0004175", + "UBERON:0004176", + "HP:0008669", + "UBERON:0003606", + "UPHENO:0021561", + "HP:0000035", + "HP:0004322", + "UPHENO:0087973", + "UPHENO:0086198", + "UBERON:0004122", + "UPHENO:0002595", + "CL:0000413", + "CL:0000039", + "GO:0050794", + "UPHENO:0085875", + "UBERON:0014793", + "HP:0009603", "UBERON:0004111", + "UPHENO:0080377", + "HP:0000032", + "UPHENO:0078729", + "UBERON:0000463", + "UPHENO:0076735", + "UPHENO:0078452", + "UPHENO:0053298", + "UBERON:0001052", + "UBERON:0005090", + "HP:0000078", + "HP:0012622", + "UBERON:0001968", + "UBERON:0005177", + "HP:0011277", + "UBERON:0000473", + "UBERON:0004053", + "UPHENO:0002598", + "UPHENO:0049367", + "UPHENO:0046411", + "UPHENO:0046707", + "HP:0009381", + "UPHENO:0011498", + "UBERON:0004381", + "UPHENO:0046624", + "HP:0009623", + "UBERON:0012361", + "HP:0004097", + "UPHENO:0050101", + "UBERON:0001353", + "HP:0009484", + "UPHENO:0084829", + "UPHENO:0080351", + "GO:0010468", + "UPHENO:0000541", + "UBERON:0003466", + "UPHENO:0069254", + "UPHENO:0076740", "HP:0100871", - "UBERON:0000061", - "GO:0060255", - "UPHENO:0049990", - "BFO:0000001", - "UPHENO:0020584", - "UPHENO:0084132", - "UPHENO:0002880", - "UBERON:0000467", - "HP:0040012", - "GO:0048523" + "HP:0000002", + "HP:0001507", + "UPHENO:0049874", + "UPHENO:0000543", + "UBERON:0013522", + "HP:0012211", + "UPHENO:0002411", + "HP:0003774", + "UPHENO:0076773", + "HP:0002589", + "UPHENO:0063629", + "HP:0011100", + "HP:0012732", + "NCBITaxon:1", + "UPHENO:0084124", + "UPHENO:0087346", + "HP:0009777", + "UBERON:0004921", + "UBERON:0000160", + "HP:0002034", + "UPHENO:0002725", + "HP:0012718", + "HP:0025023" ], "has_phenotype_closure_label": [ + "rectum atresia", + "abnormal rectum", + "Abnormal intestine morphology", + "lower digestive tract", + "intestine", + "rectum", + "internal anal region", + "abnormal alimentary part of gastrointestinal system", + "Anorectal anomaly", + "Abnormality of the gastrointestinal tract", + "Morphological abnormality of the gastrointestinal tract", + "large intestine", + "subdivision of tube", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "Metazoa", + "Rectal atresia", + "abnormal alimentary part of gastrointestinal system morphology", + "Chronic kidney disease", "Abnormal renal physiology", + "Renal insufficiency", "Abnormality of the urinary system physiology", - "Stage 5 chronic kidney disease", - "Chronic kidney disease", - "non-functional anatomical entity", - "abnormal anus morphology", - "abnormal anus", - "anus", - "Abnormality of the anus", - "orifice", - "Abnormal anus morphology", - "abnormal size of multicellular organism", + "Intestinal atresia", + "non-functional kidney", "growth", "decreased height of the anatomical entity", - "decreased size of the multicellular organism", - "abnormality of anatomical entity height", - "delayed growth", + "digestive system element", "Growth delay", + "decreased size of the multicellular organism", "Abnormality of body height", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "delayed biological_process", - "External genital hypoplasia", - "cardiovascular system", - "abnormal cardiovascular system morphology", - "circulatory organ", - "viscus", - "thoracic segment organ", - "thoracic segment of trunk", - "heart plus pericardium", - "Abnormality of cardiovascular system morphology", - "abnormal cardiovascular system", - "primary circulatory organ", - "structure with developmental contribution from neural crest", - "Deviation of finger", - "Deviation of the hand or of fingers of the hand", - "Short finger", + "Renal cyst", + "deviation of manual digit", + "intestine atresia", + "Proximal placement of thumb", + "Eukaryota", + "Eumetazoa", "decreased length of manual digit", "decreased length of manual digit 1", "Short digit", - "decreased length of digit", - "Abnormal reproductive system morphology", - "abnormality of kidney physiology", - "decreased biological_process", - "abnormality of male reproductive system physiology", - "semen", - "developmental process", - "reproduction", - "multicellular organismal process", - "Abnormal testis morphology", - "sexual reproduction", - "developmental process involved in reproduction", - "multicellular organismal reproductive process", - "abnormal reproductive process", - "decreased qualitatively developmental process", - "absent anatomical entity in the semen", - "Short thumb", - "germ line cell", - "gamete generation", - "changed developmental process rate", - "spermatogenesis", - "absent sperm", - "abnormally localised testis", - "abnormal multicellular organismal reproductive process", - "absent gamete", - "reproductive organ", - "organism substance", - "Functional abnormality of male internal genitalia", - "decreased spermatogenesis", - "abnormal male reproductive system", - "absent sperm in the semen", - "obsolete multicellular organism reproduction", - "Azoospermia", - "Abnormality of the male genitalia", - "ectoderm-derived structure", - "male gamete", - "abnormality of reproductive system physiology", - "abnormality of anatomical entity physiology", - "sperm", - "external genitalia", - "gonad", - "male organism", - "abnormal reproductive system morphology", - "abnormal male reproductive organ morphology", - "decreased qualitatively biological_process", - "Abnormal spermatogenesis", - "abnormal internal genitalia", - "external male genitalia", - "testis", - "Abnormality of the genital system", - "decreased qualitatively reproductive process", - "Cryptorchidism", - "abnormally localised anatomical entity", - "decreased developmental process", - "abnormal heart morphology", - "abnormal external genitalia", - "abnormal male reproductive system morphology", - "renal pelvis/ureter", - "Abnormal renal pelvis morphology", - "reproductive process", - "Small thenar eminence", - "Fetal anomaly", - "biological_process", - "protein-containing material entity", - "subdivision of skeleton", - "increased size of the anatomical entity in independent continuant", - "appendage musculature", - "digit 1", - "abnormally dilated anatomical entity", - "increased size of the anatomical entity", - "Proximal placement of thumb", - "abnormal renal pelvis", - "anterior region of body", - "renal pelvis", - "autopodial skeleton", - "cellular component organization or biogenesis", - "Phenotypic abnormality", - "abnormal digit morphology", - "Abnormal large intestine morphology", - "abnormally dilated renal pelvis", - "absent anatomical entity", - "abnormal cellular metabolic process", - "rectum", - "acropodium region", - "Finger aplasia", - "digitopodium region", - "skeleton", - "Absent thumb", - "Abnormal digit morphology", - "aplasia or hypoplasia of manual digit", - "autopodial extension", - "Abnormality of reproductive system physiology", - "digit plus metapodial segment", - "Renal insufficiency", - "manual digitopodium region", - "Abnormal heart morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Forearm undergrowth", - "Aplasia/Hypoplasia of fingers", + "Short finger", + "developmental process", + "reproductive process", + "abnormally localised testis", + "abnormal anatomical entity topology in independent continuant", + "abnormal male reproductive system morphology", + "Abnormality of male external genitalia", + "developmental process involved in reproduction", + "abnormally localised anatomical entity", "abnormal reproductive system", + "absent gamete", + "sperm", + "male organism", "reproductive structure", - "male reproductive organ", - "Abnormal rectum morphology", - "manual digit 1 or 5", - "digit 1 or 5", - "absent manual digit", - "abnormal digit", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "aplastic anatomical entity", - "agenesis of anatomical entity", - "manual digit", - "rectum atresia", - "Abnormal fetal genitourinary system morphology", - "manual digit 1 plus metapodial segment", - "paired limb/fin skeleton", - "Abnormal appendicular skeleton morphology", - "radius bone hypoplasia", - "Aplasia/hypoplasia involving the skeleton", - "palmar/plantar part of autopod", - "Abnormality of male external genitalia", - "Short long bone", - "mesoderm-derived structure", - "phenotype", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "continuant", - "regulation of macromolecule metabolic process", - "aplastic manual digit 1", - "abnormal rectum", - "abnormal limb long bone morphology", - "endochondral element", - "abnormal cell", - "bone element", - "skeleton of limb", - "forelimb zeugopod skeleton", + "abnormal reproductive process", + "decreased qualitatively developmental process", + "testis", + "internal male genitalia", + "abnormal multicellular organismal reproductive process", + "abnormal number of anatomical enitites of type sperm", + "Azoospermia", + "Abnormality of the male genitalia", + "male germ cell", + "abnormality of multicellular organism height", + "male gamete", + "abnormally localised anatomical entity in independent continuant", + "abnormal large intestine morphology", + "absent sperm in the independent continuant", + "organism substance", + "semen", + "abnormal male reproductive system", "male reproductive system", - "limb bone", - "abnormal forelimb zeugopod bone", - "abnormal limb bone morphology", - "abnormal forelimb zeugopod morphology", - "abnormal limb bone", - "Aplasia/hypoplasia of the extremities", - "decreased length of forelimb zeugopod bone", - "Abnormal long bone morphology", - "skeleton of pectoral complex", - "abnormal cellular component organization", - "appendicular skeletal system", - "Aplasia/hypoplasia involving forearm bones", - "external soft tissue zone", - "Abnormal skeletal morphology", - "musculature of upper limb", - "anatomical collection", - "zeugopod", - "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "abnormal bone of pectoral complex morphology", - "aplasia or hypoplasia of skeleton", - "forelimb bone", - "limb long bone", - "trunk", - "digit 1 plus metapodial segment", - "radius endochondral element", - "Deviation of the thumb", - "skeletal element", - "Abnormal upper limb bone morphology", - "digit", - "abdominal segment of trunk", - "Abnormality of the skeletal system", - "bone of free limb or fin", - "Abnormal morphology of the radius", - "arm bone", - "radius bone", - "obsolete cellular nitrogen compound metabolic process", - "Abnormality of prenatal development or birth", - "decreased length of anatomical entity in independent continuant", - "endochondral bone", - "upper urinary tract", - "skeletal system", + "reproduction", + "abnormal location of anatomical entity", + "abnormal developmental process involved in reproduction", + "decreased developmental process", + "reproductive organ", + "spermatogenesis", + "gamete generation", + "absent anatomical entity in the semen", + "abnormal gamete", + "abnormal number of anatomical enitites of type cell", + "external genitalia", "internal genitalia", - "anatomical cluster", - "circulatory system", - "subdivision of skeletal system", - "Hypoplasia of the radius", - "decreased length of long bone", - "Limb undergrowth", - "abnormal developmental process", - "Abnormality of limb bone morphology", - "Abnormal forearm morphology", - "abnormal large intestine morphology", - "abnormal growth", - "increased size of the renal pelvis", - "organism", - "Short stature", - "Rectal atresia", - "Abnormality of limb bone", - "Neoplasm by anatomical site", - "Aplasia/hypoplasia involving bones of the hand", - "Morphological abnormality of the gastrointestinal tract", - "large intestine", - "Abnormal male reproductive system physiology", + "gonad", + "Abnormality of the genital system", + "abnormal internal genitalia", + "germ cell", + "Abnormality of reproductive system physiology", "gamete", + "obsolete multicellular organism reproduction", + "absent sperm", + "abnormality of reproductive system physiology", + "abnormal spermatogenesis", + "changed biological_process rate", + "absent germ cell", + "abnormal renal system morphology", + "Abnormality of prenatal development or birth", + "multi-tissue structure", + "External genital hypoplasia", + "abnormally dilated anatomical entity", + "kidney", + "sexual reproduction", + "abnormal genitourinary system", + "increased size of the renal pelvis", + "late embryo", + "abnormal renal system", + "Abnormal renal morphology", + "embryo", + "renal pelvis", + "Abnormality of the kidney", + "renal pelvis/ureter", + "disconnected anatomical group", + "abdominal segment of trunk", + "abdomen", + "decreased length of digit", + "anatomical cluster", + "Abnormality of the upper urinary tract", + "renal system", + "Abnormal fetal genitourinary system morphology", "organ part", - "Abnormality of the digestive system", - "Abnormal skeletal muscle morphology", - "Abnormality of the gastrointestinal tract", - "anal region", - "Intestinal atresia", - "alimentary part of gastrointestinal system", - "Neoplasm", - "abnormal location of anatomical entity", - "Abnormality of the musculature of the upper limbs", - "abnormal digestive system", - "subdivision of digestive tract", - "decreased length of anatomical entity", - "abnormal digestive system morphology", + "increased size of the anatomical entity in independent continuant", + "Abnormal fetal morphology", + "Abnormal renal pelvis morphology", + "abnormally dilated renal pelvis", + "abnormal late embryo", + "Fetal pyelectasis", + "abnormal renal pelvis", + "abnormal renal pelvis morphology", "abnormal external male genitalia", - "late embryo", - "digestive tract", - "material entity", - "abnormal closing of the anatomical entity", - "long bone", - "Abnormal internal genitalia", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Eukaryota", - "Abnormal finger morphology", - "abnormal manual digit 1 morphology", - "abnormal alimentary part of gastrointestinal system", + "Fetal anomaly", + "upper urinary tract", "Anal atresia", - "abnormal gamete", + "Dilatation of the renal pelvis", + "anus atresia", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "abnormal anus", + "abnormal closing of the anatomical entity", + "abnormal digestive system", + "deviation of manual digit 1", + "digestive tract", + "multicellular organismal reproductive process", + "anatomical conduit", + "anus", + "abnormal digestive system morphology", + "Neoplasm by anatomical site", + "digestive system", + "abnormality of male reproductive system physiology", + "abnormal developmental process", + "tube", + "abnormal muscle organ morphology", + "musculature of upper limb", + "haploid cell", + "appendage musculature", + "musculature of body", + "Abnormality of the musculature of the upper limbs", + "cavitated compound organ", + "abnormal musculature of upper limb", + "Abnormality of the musculature of the limbs", + "Abnormality of the musculature of the hand", + "germ line cell", + "thenar eminence hypoplasia", + "Abnormal palm morphology", + "musculature", + "Abnormality of the thenar eminence", + "abnormal musculature of limb", + "Abnormal rectum morphology", + "Abnormal testis morphology", + "Abnormal skeletal muscle morphology", + "musculature of manus", + "abnormal musculature", + "abnormal heart morphology", + "Cryptorchidism", + "heart plus pericardium", + "Abnormal heart morphology", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", "Fetal ultrasound soft marker", + "excretory system", + "circulatory system", + "body proper", + "abnormal cardiovascular system morphology", + "circulatory organ", + "viscus", + "Gastrointestinal atresia", + "trunk", + "limb endochondral element", + "subdivision of digestive tract", + "delayed biological_process", + "Short forearm", + "increased size of the anatomical entity", + "abnormal limb bone", + "limb bone", + "abnormal number of anatomical enitites of type anatomical entity", + "Deviation of the thumb", + "Abnormal male reproductive system physiology", + "subdivision of organism along appendicular axis", + "radius bone hypoplasia", + "Functional abnormality of male internal genitalia", + "abnormal anatomical entity morphology in the pectoral complex", + "aplasia or hypoplasia of anatomical entity", + "abnormal appendicular skeleton morphology", + "endochondral element", + "pectoral appendage", + "Deviation of the hand or of fingers of the hand", + "abnormal primary metabolic process", + "Stage 5 chronic kidney disease", + "abnormal musculature of manus", + "mesoderm-derived structure", + "abnormal forelimb morphology", + "abnormal long bone morphology", "forelimb zeugopod bone hypoplasia", - "tube", - "Abnormality of chromosome stability", + "anatomical entity hypoplasia in independent continuant", + "abnormality of internal male genitalia physiology", + "organism subdivision", + "Abnormality of the musculoskeletal system", + "Limb undergrowth", + "ectoderm-derived structure", + "structure with developmental contribution from neural crest", + "long bone", + "abnormal testis morphology", + "forelimb zeugopod", + "male reproductive organ", + "cellular component organization or biogenesis", + "multicellular anatomical structure", + "forelimb endochondral element", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "decreased length of anatomical entity in independent continuant", + "skeleton of pectoral complex", + "abnormal anus morphology", + "Abnormality of metabolism/homeostasis", + "musculature of limb", + "negative regulation of biosynthetic process", + "decreased length of forelimb zeugopod bone", + "orifice", + "DNA metabolic process", "regulation of macromolecule biosynthetic process", - "Abnormality of the cardiovascular system", - "Abnormal cellular physiology", - "abnormal biological_process", - "multi-tissue structure", - "biological regulation", - "organ system subdivision", - "process", - "main body axis", - "aplasia or hypoplasia of radius bone", + "alimentary part of gastrointestinal system", + "Abnormal reproductive system morphology", + "muscle organ", + "abnormal anatomical entity length", + "musculature of pectoral complex", + "thoracic cavity element", + "multicellular organism", + "absent anatomical entity in the multicellular organism", + "abnormal organelle organization", "cellular organisms", - "absent anatomical entity in the independent continuant", - "subdivision of organism along appendicular axis", + "Abnormality of the musculature", + "thoracic segment of trunk", + "abnormal digit", + "programmed DNA elimination", + "digit", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormality of anatomical entity height", + "bone of appendage girdle complex", + "metabolic process", + "multi-limb segment region", + "abnormal cellular process", + "root", + "appendage", + "Abnormal upper limb bone morphology", + "abnormality of kidney physiology", + "negative regulation of cellular biosynthetic process", + "Abnormal internal genitalia", + "regulation of cellular process", + "decreased height of the multicellular organism", + "Short long bone", "male gamete generation", - "zeugopodial skeleton", - "abnormal anatomical entity", - "paired limb/fin", - "Gastrointestinal atresia", - "Metazoa", - "pectoral appendage", - "thenar eminence", - "Short forearm", + "skeleton", + "Abnormal external genitalia", + "negative regulation of biological process", + "abnormal growth", + "independent continuant", "abnormal intestine morphology", - "male germ cell", - "lateral structure", - "limb", - "paired limb/fin segment", - "Hydronephrosis", + "aplastic manual digit 1", + "reproductive system", + "organic cyclic compound metabolic process", + "segment of autopod", + "anal region", + "paired limb/fin skeleton", + "Growth abnormality", + "abnormal palmar part of manus morphology", + "programmed DNA elimination by chromosome breakage", + "regulation of gene expression", + "Small thenar eminence", + "obsolete cellular nitrogen compound metabolic process", + "organelle organization", + "Abnormal anus morphology", + "protein-DNA complex organization", + "arm", + "abnormal kidney", + "Abnormality of chromosome stability", "abnormal manus", - "Dilatation of the renal pelvis", - "abnormal manual digit morphology in the independent continuant", - "anatomical entity atresia", - "abnormal arm", - "Abnormality of the musculature of the hand", - "decreased size of the anatomical entity in the pectoral complex", - "multicellular anatomical structure", + "phenotype by ontology source", + "Abnormal thumb morphology", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "negative regulation of gene expression", + "Abnormality of the digestive system", + "regulation of macromolecule metabolic process", + "acropodium region", + "anatomical entity", + "palmar part of manus", + "Aplasia/hypoplasia involving the skeleton", + "Deviation of finger", + "negative regulation of metabolic process", + "alimentary part of gastrointestinal system atresia", + "cellular component organization", "Aplasia/hypoplasia involving bones of the upper limbs", - "root", - "haploid cell", - "Abnormal renal morphology", - "Abnormality of limbs", - "abnormal alimentary part of gastrointestinal system morphology", - "multi-limb segment region", - "disconnected anatomical group", - "thenar eminence hypoplasia", - "Abnormal intestine morphology", - "abnormal forelimb morphology", - "organ", - "protein-DNA complex organization", - "trunk region element", - "pectoral complex", + "abdominal segment element", "abnormal thenar eminence", - "abnormal musculature of manus", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormality of the thenar eminence", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the hand", - "subdivision of organism along main body axis", - "abnormal muscle organ morphology", - "Non-obstructive azoospermia", - "absent anatomical entity in the multicellular organism", - "abnormal number of anatomical enitites of type cell", - "abnormal anatomical entity length", - "Abnormality of the musculoskeletal system", - "abnormal rectum morphology", - "abnormally localised anatomical entity in independent continuant", - "musculoskeletal system", - "decreased size of the anatomical entity", - "compound organ", - "autopod region", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "bone of pectoral complex", + "entity", + "subdivision of skeletal system", + "biological_process", + "Abnormal forearm bone morphology", + "Abnormality of the skeletal system", + "terminal part of digestive tract", + "absent anatomical entity in the limb", + "continuant", + "Abnormality of limbs", + "Short stature", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", + "anatomical entity hypoplasia", + "obsolete heterocycle metabolic process", + "non-functional anatomical entity", + "thoracic segment organ", + "aplasia or hypoplasia of radius bone", "abnormal spatial pattern of anatomical entity", - "abnormal limb", - "Abnormal hand morphology", - "forelimb long bone", - "cell", - "phenotype by ontology source", - "abnormal manus morphology", - "abnormal cellular process", - "regulation of biosynthetic process", - "abnormal musculature of upper limb", - "pectoral appendage musculature", - "digestive system", - "musculature", - "forelimb skeleton", - "musculature of body", - "bone of appendage girdle complex", - "muscle organ", - "anatomical entity hypoplasia in independent continuant", - "digestive system element", - "non-functional kidney", - "abnormal size of anatomical entity", - "Opisthokonta", - "abnormal palmar part of manus morphology", - "abnormal late embryo", - "manual digit 1", - "Abnormality of the musculature of the limbs", - "manual digit plus metapodial segment", - "limb skeleton subdivision", - "musculature of limb", - "abnormal musculature of limb", - "negative regulation of macromolecule biosynthetic process", - "Abnormality of the genitourinary system", - "germ cell", - "abnormal spermatogenesis", - "segment of manus", - "musculature of pectoral complex", - "abnormal anatomical entity morphology in the independent continuant", - "multicellular organism", + "protein-containing complex organization", + "material entity", + "abdomen element", + "negative regulation of cellular metabolic process", + "appendicular skeletal system", + "anatomical structure", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "upper limb segment", + "appendicular skeleton", + "subdivision of organism along main body axis", + "abnormal biological_process", + "abnormal cell", + "macromolecule metabolic process", + "appendage girdle complex", + "Abnormal long bone morphology", + "skeleton of limb", + "muscle structure", + "material anatomical entity", + "external male genitalia", + "chromatin organization", + "pectoral appendage musculature", + "abnormal metabolic process", + "abnormal forelimb zeugopod morphology", + "cellular metabolic process", + "Non-obstructive azoospermia", + "biological regulation", + "regulation of cellular biosynthetic process", + "forelimb zeugopod skeleton", + "abnormal limb morphology", + "regulation of metabolic process", + "Abnormality of limb bone morphology", + "regulation of cellular metabolic process", "abnormality of renal system physiology", - "programmed DNA elimination by chromosome breakage", - "Anorectal anomaly", - "organism subdivision", - "thoracic cavity element", - "Abnormality of the kidney", - "abnormality of internal male genitalia physiology", - "abnormal gamete generation", - "cavitated compound organ", - "abnormal kidney", - "body proper", - "aplasia or hypoplasia of anatomical entity", - "forelimb zeugopod bone", "quality", - "abdomen element", + "regulation of biological process", + "changed developmental process rate", + "lateral structure", + "abnormal anatomical entity morphology in the independent continuant", + "limb segment", + "abnormal anatomical entity morphology in the palmar part of manus", "subdivision of trunk", + "abnormal phenotype by ontology source", + "absent manual digit", + "abnormal chromatin organization", + "Chromosome breakage", + "Hypoplasia of the radius", + "paired limb/fin", + "decreased size of the anatomical entity in the independent continuant", + "abnormal size of multicellular organism", + "bone element", + "All", + "anatomical collection", + "abnormal programmed DNA elimination by chromosome breakage", + "negative regulation of cellular process", + "decreased qualitatively reproductive process", "genitourinary system", - "negative regulation of cellular biosynthetic process", - "anatomical system", - "palmar part of manus", - "abnormal anatomical entity morphology in the palmar part of manus", - "Aplasia/hypoplasia involving bones of the extremities", - "alimentary part of gastrointestinal system atresia", - "abnormal genitourinary system", - "Renal cyst", - "Abnormal forearm bone morphology", - "regulation of cellular metabolic process", - "regulation of biological process", - "Abnormal thumb morphology", - "arm", - "abnormal limb morphology", + "forelimb skeleton", + "Abnormal cellular physiology", + "organic substance metabolic process", + "obsolete nitrogen compound metabolic process", + "abnormal upper urinary tract", + "musculoskeletal system", + "delayed growth", + "abnormal cardiovascular system", + "skeletal system", + "phenotype", + "nucleobase-containing compound metabolic process", + "absent digit", + "decreased length of long bone", + "primary metabolic process", + "skeletal element", + "zeugopod", + "autopodial extension", "bone element hypoplasia in independent continuant", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "process", + "nucleic acid metabolic process", + "aplasia or hypoplasia of skeleton", + "forelimb", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal large intestine morphology", "abnormal anatomical entity morphology", - "primary metabolic process", - "cellular component organization", - "abnormal kidney morphology", + "specifically dependent continuant", + "arm bone", + "abnormal rectum morphology", + "abnormal limb long bone morphology", + "manual digit plus metapodial segment", + "abnormal limb bone morphology", + "radius endochondral element", + "Abnormality of digestive system morphology", + "thenar eminence", + "manus", + "abnormal limb", + "compound organ", + "zeugopodial skeleton", + "obsolete cell", + "limb long bone", + "Abnormality of the urinary system", + "forelimb bone", + "abnormal radius bone morphology", "system", - "negative regulation of macromolecule metabolic process", - "organic substance metabolic process", + "aplasia or hypoplasia of manual digit 1", + "Abnormality of the anus", + "organ system subdivision", + "abnormal gamete generation", + "Abnormal morphology of the radius", + "manual digit", + "Abnormal appendicular skeleton morphology", + "decreased size of the anatomical entity", + "Forearm undergrowth", + "palmar/plantar part of autopod", + "external soft tissue zone", + "Abnormality of limb bone", + "abnormal arm", + "absent anatomical entity in the forelimb", + "occurrent", + "organ", + "heart", + "abnormal manual digit morphology in the manus", "abnormal DNA metabolic process", - "abnormal chromatin organization", - "forelimb", - "embryo", - "appendage", - "musculature of manus", - "material anatomical entity", - "anus atresia", - "abdomen", - "changed biological_process rate", - "abnormal metabolic process", - "abnormal renal pelvis morphology", - "chromatin organization", - "abnormal renal system", - "abnormal musculature", - "abnormal appendicular skeleton morphology", - "Eumetazoa", - "segment of autopod", - "negative regulation of metabolic process", - "nucleobase-containing compound metabolic process", - "abnormal skeletal system morphology", - "obsolete cell", + "radius bone", "deviation of anatomical entity", - "absent sperm in the independent continuant", - "internal male genitalia", - "occurrent", - "regulation of cellular process", - "regulation of gene expression", - "intestine atresia", - "abnormal nitrogen compound metabolic process", - "appendage girdle complex", - "abnormal anatomical entity topology in independent continuant", - "limb segment", - "cellular process", - "forelimb zeugopod", - "cellular metabolic process", - "abnormal skeletal system", - "Abnormal fetal morphology", - "macromolecule metabolic process", - "bone of pectoral complex", - "abnormal upper urinary tract", - "specifically dependent continuant", - "subdivision of tube", - "regulation of metabolic process", - "organic cyclic compound metabolic process", + "multicellular organismal process", "obsolete cellular aromatic compound metabolic process", - "abnormal anatomical entity morphology in the manus", - "kidney", - "absent anatomical entity in the forelimb", - "appendicular skeleton", - "All", - "pectoral appendage skeleton", + "Aplasia/hypoplasia involving forearm bones", + "forelimb long bone", + "absent sperm in the semen", + "Hydronephrosis", + "decreased length of anatomical entity", + "Abnormality of cardiovascular system morphology", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "limb", + "cell", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "abnormal forelimb zeugopod bone", + "Upper limb undergrowth", + "limb skeleton subdivision", + "trunk region element", + "pectoral complex", + "Opisthokonta", + "paired limb/fin segment", "Abnormal cellular phenotype", - "abnormal number of anatomical enitites of type sperm", - "Abnormality of the musculature", - "abnormal manual digit morphology in the manus", - "abnormal anatomical entity morphology in the pectoral complex", - "nucleic acid metabolic process", - "decreased size of the anatomical entity in the independent continuant", - "metabolic process", "decreased size of the radius bone", - "abnormal phenotype by ontology source", - "negative regulation of cellular metabolic process", - "abnormal long bone morphology", - "entity", - "deviation of manual digit 1", - "internal anal region", - "protein-containing complex organization", - "Chromosome breakage", - "Abnormality of the urinary system", - "anatomical structure", - "Abnormality of metabolism/homeostasis", - "intestine", - "abnormal programmed DNA elimination by chromosome breakage", - "lower digestive tract", - "renal system", - "Upper limb undergrowth", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "anatomical conduit", - "deviation of manual digit", - "obsolete nitrogen compound metabolic process", - "Abnormality of the upper urinary tract", - "regulation of cellular biosynthetic process", - "independent continuant", - "abnormal organelle organization", - "excretory system", - "negative regulation of cellular process", - "anatomical entity hypoplasia", - "terminal part of digestive tract", - "Growth abnormality", - "abnormal renal system morphology", - "abnormal developmental process involved in reproduction", - "Abnormal external genitalia", - "muscle structure", - "programmed DNA elimination", - "heart", - "upper limb segment", - "limb endochondral element", - "anatomical entity", - "Abnormal palm morphology", + "abnormal skeletal system", + "forelimb zeugopod bone", + "subdivision of skeleton", + "endochondral bone", + "Aplasia/Hypoplasia of the radius", + "abnormal anatomical entity", + "Abnormal forearm morphology", + "abnormal external genitalia", + "abnormal size of anatomical entity", + "anatomical system", + "digit 1", + "aplasia or hypoplasia of manual digit", + "organism", + "autopod region", + "skeleton of manus", + "cardiovascular system", + "manual digitopodium region", + "abnormal anatomical entity morphology in the manus", + "agenesis of anatomical entity", + "Abnormality of the hand", "abnormal autopod region morphology", - "absent germ cell", - "forelimb endochondral element", - "DNA metabolic process", - "manus", - "abnormal primary metabolic process", - "reproductive system", - "abnormal testis morphology", - "Fetal pyelectasis", - "negative regulation of biosynthetic process", - "absent digit", - "abdominal segment element", - "obsolete heterocycle metabolic process", - "organelle organization", - "absent anatomical entity in the limb", - "Abnormality of the upper limb", - "Abnormality of digestive system morphology", - "negative regulation of biological process", - "negative regulation of gene expression" + "bone of free limb or fin", + "Absent thumb", + "anterior region of body", + "aplastic anatomical entity", + "Aplasia/hypoplasia involving bones of the extremities", + "manual digit 1", + "protein-containing material entity", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "cellular process", + "Abnormal digit morphology", + "absent anatomical entity", + "Short thumb", + "abnormal manual digit 1 morphology", + "digit 1 plus metapodial segment", + "abnormal digit morphology", + "digit plus metapodial segment", + "Abnormal finger morphology", + "abnormal male reproductive organ morphology", + "autopodial skeleton", + "Finger aplasia", + "manual digit 1 plus metapodial segment", + "Neoplasm", + "manual digit 1 or 5", + "pectoral appendage skeleton", + "abnormal manus morphology", + "primary circulatory organ", + "digit 1 or 5", + "Aplasia/Hypoplasia of the thumb", + "regulation of biosynthetic process", + "absent anatomical entity in the independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Abnormal spermatogenesis", + "Abnormal hand morphology", + "decreased spermatogenesis", + "abnormal kidney morphology", + "main body axis" ], "has_phenotype_count": 15, "highlight": null, @@ -9891,1467 +9891,1467 @@ "Fanconi anaemia caused by mutation in Slx4", "Fanconi anaemia complementation group type P", "Fanconi anemia caused by mutation in SLX4", - "Fanconi anemia caused by mutation in Slx4", - "Fanconi anemia complementation group type P", - "Fanconi anemia, complementation group P", - "SLX4 Fanconi anaemia", - "SLX4 Fanconi anemia", - "Slx4 Fanconi anaemia", - "Slx4 Fanconi anemia" - ], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0000252", - "HP:0002860", - "HP:0002984", - "HP:0009777", - "HP:0000581", - "HP:0001510", - "HP:0001876", - "HP:0000347", - "HP:0009778", - "HP:0000414", - "HP:0000957", - "HP:0001903", - "HP:0012745", - "HP:0000085", - "HP:0003221", - "HP:0004322", - "HP:0000365", - "HP:0000028", - "HP:0000125", - "HP:0001045" - ], - "has_phenotype_label": [ - "Microcephaly", - "Squamous cell carcinoma", - "Hypoplasia of the radius", - "Absent thumb", - "Blepharophimosis", - "Growth delay", - "Pancytopenia", - "Micrognathia", - "Short thumb", - "Bulbous nose", - "Cafe-au-lait spot", - "Anemia", - "Short palpebral fissure", - "Horseshoe kidney", - "Chromosomal breakage induced by crosslinking agents", - "Short stature", - "Hearing impairment", - "Cryptorchidism", - "Pelvic kidney", - "Vitiligo" - ], - "has_phenotype_closure": [ - "HP:0001045", - "UPHENO:0081755", - "HP:0008669", - "GO:0007283", - "UPHENO:0053580", - "UPHENO:0050108", - "UPHENO:0049985", - "HP:0000811", - "UBERON:0004053", - "UPHENO:0049970", - "UBERON:0000473", - "CL:0000039", - "CL:0000413", - "UBERON:0000990", - "UPHENO:0086023", - "HP:0012243", - "UPHENO:0086198", - "UPHENO:0085875", - "CL:0000015", - "UBERON:0003101", - "GO:0032502", - "GO:0022414", - "GO:0000003", - "UBERON:0005156", - "UPHENO:0050101", - "UPHENO:0078729", - "UPHENO:0021561", - "GO:0003006", - "GO:0048609", - "HP:0000025", - "UPHENO:0085194", - "UPHENO:0002371", - "UBERON:0003133", - "UBERON:0003135", - "CL:0000300", - "UBERON:0000079", - "UPHENO:0002597", - "UPHENO:0087973", - "UPHENO:0082875", - "HP:0000364", - "UPHENO:0052970", - "UBERON:0002105", - "GO:0050877", - "UPHENO:0005518", - "CL:0000586", - "HP:0000598", - "GO:0003008", - "HP:0012874", - "GO:0007600", - "UPHENO:0002240", - "GO:0032504", - "UPHENO:0052231", - "UPHENO:0080351", - "UPHENO:0075159", - "HP:0010461", - "GO:0010468", - "GO:0010558", - "GO:0019222", - "GO:0006139", - "GO:0043170", - "GO:0007605", - "GO:0046483", - "GO:0006725", - "GO:0034641", - "UPHENO:0049990", - "UPHENO:0049873", - "GO:0031049", - "GO:0065007", - "GO:0008152", - "GO:0009987", - "UPHENO:0049748", - "UPHENO:0049700", - "GO:0071840", - "HP:0001939", - "UPHENO:0050113", - "UPHENO:0050121", - "GO:0010556", - "HP:0000035", - "GO:0031326", - "GO:0060255", - "GO:0009892", - "GO:0090304", - "GO:0006996", - "GO:0043933", - "GO:0050789", - "GO:0044238", - "GO:0006807", - "GO:0071704", - "HP:0004322", - "GO:0010629", - "UBERON:0009569", - "UBERON:0005172", - "UPHENO:0002832", - "HP:0000365", - "HP:0012210", - "UPHENO:0050620", - "UBERON:0004122", - "UBERON:8450002", - "UPHENO:0041075", - "UPHENO:0087427", - "GO:0071824", - "UPHENO:0002642", - "UPHENO:0002803", - "UPHENO:0082129", - "UPHENO:0082444", - "UPHENO:0075902", - "UPHENO:0041629", - "UBERON:0002417", - "UBERON:0002100", - "HP:0100542", - "UPHENO:0080300", - "UBERON:0001008", - "UPHENO:0002595", - "UPHENO:0041821", - "UPHENO:0088162", - "UPHENO:0076779", - "HP:0001903", - "UPHENO:0088170", - "UPHENO:0059829", - "HP:0000953", - "HP:0007400", - "GO:0048523", - "UPHENO:0054970", - "GO:0043473", - "HP:0001034", - "HP:0012733", - "UBERON:0004175", - "UPHENO:0074584", - "HP:0011121", - "UPHENO:0081424", - "UPHENO:0074572", + "Fanconi anemia caused by mutation in Slx4", + "Fanconi anemia complementation group type P", + "Fanconi anemia, complementation group P", + "SLX4 Fanconi anaemia", + "SLX4 Fanconi anemia", + "Slx4 Fanconi anaemia", + "Slx4 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"UBERON:0012140", + "HP:0000025", + "HP:0001172", + "UBERON:0011676", + "HP:0002973", + "CL:0001035", + "UPHENO:0002803", + "UBERON:0005172", + "UBERON:0012139", + "UPHENO:0012541", + "UPHENO:0003085", + "HP:0000153", + "HP:0007400", + "HP:0033127", + "HP:0000812", + "HP:0000240", + "UPHENO:0086635", + "HP:0040072", + "UBERON:0010912", + "CL:0000225", + "UBERON:0011582", + "UPHENO:0046707", + "UPHENO:0074575", + "HP:0002011", + "UBERON:0015061", + "UBERON:0003129", + "UPHENO:0002833", "UPHENO:0012274", - "UBERON:0000062", - "UBERON:0007811", - "HP:0012145", - "GO:0031052", - "UBERON:0013702", - "UBERON:0007272", + "UPHENO:0085118", + "UBERON:0002113", + "HP:0011314", + "HP:0005773", + "HP:0000366", + "UPHENO:0001002", + "HP:0012733", + "UPHENO:0080087", + "UBERON:0003460", + "UBERON:0000026", + "UPHENO:0021561", + "UBERON:0003606", + "UBERON:0002405", "BFO:0000001", - "UPHENO:0075195", - "UPHENO:0002764", - "UBERON:0001442", - "UPHENO:0002332", - "UPHENO:0002903", + "UPHENO:0002635", + "HP:0000080", + "UBERON:0010712", + "UPHENO:0046540", + "UPHENO:0074589", "UPHENO:0076727", - "UBERON:0005177", + "UBERON:0001423", + "UBERON:0004456", + "UPHENO:0008668", + "UPHENO:0068971", + "UBERON:0001460", + "GO:0040007", + "HP:0009826", "UBERON:0002529", - "UBERON:0004765", - "UPHENO:0002598", - "CL:0000151", - "HP:0011297", - "UPHENO:0075696", - "UBERON:0010000", - "UPHENO:0088116", - "UBERON:0019231", - "GO:0031323", - "UBERON:0011249", + "UBERON:0002091", + "UPHENO:0081314", + "UPHENO:0020584", + "UPHENO:0080187", + "UBERON:0013702", + "GO:0003008", + "UBERON:0010538", + "HP:0009824", + "HP:0000252", + "UPHENO:0002880", "UBERON:0012475", - "UBERON:0000481", - "UPHENO:0002536", - "UPHENO:0087846", - "UBERON:0001434", - "UPHENO:0049701", - "UPHENO:0053298", - "HP:0001877", - "UPHENO:0011498", - "HP:0011844", - "UBERON:0010912", - "HP:0012130", - "UBERON:0005881", - "GO:0048232", - "UPHENO:0081204", - "HP:0011821", - "HP:0003026", - "HP:0012443", - "HP:0012639", - "UPHENO:0005016", - "UPHENO:0076761", - "HP:0002692", - "HP:0000001", - "HP:0002813", - "UBERON:0001893", - "UPHENO:0076791", - "HP:0005927", - "HP:0006496", - "UBERON:0012139", - "UBERON:0003113", - "HP:0002715", - "UPHENO:0069294", - "UPHENO:0001002", - "UPHENO:0080662", - "UPHENO:0021791", - "UPHENO:0081786", - "HP:0006265", + "UPHENO:0085195", + "UBERON:0010000", + "UPHENO:0054577", + "UBERON:0002390", + "UPHENO:0082444", + "UBERON:0002204", + "UBERON:0002495", + "UBERON:0003278", + "UPHENO:0002751", + "UPHENO:0079872", + "UBERON:0010363", + "HP:0002977", + "UPHENO:0088166", + "GO:0044237", + "UBERON:0001440", "UBERON:0004121", - "UBERON:0000955", - "UBERON:0001968", - "UPHENO:0081451", - "PATO:0000001", - "UPHENO:0049874", - "CL:0000019", - "HP:0009821", - "UPHENO:0012541", - "UPHENO:0081435", - "UPHENO:0001001", - "UBERON:0000475", - "UPHENO:0078452", - "UBERON:0003466", - "UPHENO:0086049", - "UBERON:0002113", - "UBERON:0015021", - "UPHENO:0080099", - "UPHENO:0087089", - "HP:0000032", - "UBERON:0004288", - "HP:0002060", - "HP:0000118", - "UBERON:0000991", - "GO:0048519", - "UBERON:0034929", + "HP:0000924", + "BFO:0000141", + "HP:0009115", + "UPHENO:0004523", + "UBERON:0010758", + "UPHENO:0087006", + "UPHENO:0085144", + "GO:0007600", + "UPHENO:0041075", + "HP:0001045", "HP:0040070", + "UPHENO:0081755", + "UPHENO:0075198", + "UBERON:0002471", + "HP:0011961", + "GO:0043170", + "HP:0010938", + "HP:0008050", + "CL:0000151", + "UPHENO:0069254", + "UBERON:0003466", + "UPHENO:0046505", + "UPHENO:0041465", "UBERON:0002090", - "CL:0000000", - "UPHENO:0085195", - "UBERON:0011137", - "CL:0000255", - "UBERON:0010741", - "HP:0000002", - "HP:0011842", - "HP:0000929", + "UPHENO:0083646", + "UBERON:0001017", "UBERON:0000047", - "UBERON:0000061", - "HP:0005773", - "HP:0005105", - "UBERON:0004375", - "HP:0000707", - "BFO:0000003", - "UPHENO:0026181", - "UPHENO:0086595", - "HP:0200007", - "HP:0000152", + "HP:0025461", "UBERON:0001890", - "UBERON:0004921", - "UBERON:0001456", - "UBERON:0011159", - "UBERON:0011216", - "UPHENO:0002844", "NCBITaxon:33154", - "UPHENO:0002880", - "UBERON:0000467", - "UPHENO:0020584", - "UBERON:0001460", - "UBERON:0000466", + "UBERON:0000970", + "UBERON:0004742", + "UBERON:0001893", "UBERON:0000033", - "UPHENO:0080200", - "UBERON:0001062", - "HP:0025354", - "HP:0000027", - "UPHENO:0081566", - "BFO:0000015", - "UPHENO:0080079", - "UBERON:0000075", + "HP:0040012", + "UBERON:0010707", + "UPHENO:0022529", + "UBERON:0000475", + "UPHENO:0076702", + "UBERON:0007811", + "HP:0009121", + "NCBITaxon:6072", + "UPHENO:0049748", + "HP:0000707", + "UPHENO:0086172", + "HP:0002664", + "HP:0006265", + "UPHENO:0078606", + "HP:0002860", + "UPHENO:0087123", + "UPHENO:0081788", + "HP:0011793", + "UPHENO:0086023", + "HP:0001510", + "GO:0010468", + "UPHENO:0000541", + "UBERON:0001456", + "HP:0005105", + "HP:0001507", + "UPHENO:0049874", + "UPHENO:0000543", + "HP:0012745", "HP:0000492", + "UPHENO:0075220", + "UPHENO:0086595", + "UBERON:0034921", + "UBERON:0011584", + "UPHENO:0084987", + "HP:0006503", + "UBERON:0002104", + "UBERON:0003462", + "HP:0000315", + "UPHENO:0085189", + "UPHENO:0046753", + "UBERON:0003103", + "UPHENO:0080200", + "HP:0200007", + "HP:0000125", + "UPHENO:0002910", + "HP:0032039", + "HP:0030669", + "UBERON:0000161", + "UPHENO:0084761", + "HP:0001872", + "UBERON:0001819", + "UPHENO:0034770", + "UBERON:0034923", + "UPHENO:0076761", + "HP:0010461", + "UPHENO:0054567", + "HP:0045025", + "UPHENO:0041821", + "UPHENO:0020041", + "HP:0000271", + "UBERON:0001474", + "CL:0000329", + "UBERON:0001690", + "UPHENO:0086173", + "UPHENO:0077426", + "UPHENO:0085984", + "HP:0002715", + "CL:0000457", + "UBERON:0000064", + "CL:0000081", + "CL:0000763", + "HP:0031816", + "CL:0000232", + "UBERON:0004375", + "HP:0011873", + "CL:0000233", + "UBERON:0019231", + "UBERON:0010364", + "UBERON:0013522", + "UBERON:0001710", + "HP:0020047", + "UPHENO:0002903", "UPHENO:0081466", - "UPHENO:0076703", - "HP:0001873", - "UPHENO:0076723", - "UBERON:0011138", + "CL:0002092", + "UPHENO:0085371", + "UPHENO:0086045", + "HP:0011875", + "UPHENO:0087355", + "UPHENO:0087339", + "UBERON:0000479", + "UPHENO:0079876", + "UBERON:0001007", + "CL:0000000", + "UPHENO:0020950", + "HP:0000581", + "UPHENO:0085344", + "UPHENO:0076779", + "UBERON:0000079", + "HP:0001871", + "HP:0012145", + "UPHENO:0075997", + "UBERON:0002371", + "CL:0000458", + "UPHENO:0087089", + "CL:0000764", "UPHENO:0085070", - "UPHENO:0002751", - "UPHENO:0085118", - "UPHENO:0081423", - "UBERON:0010712", - "UPHENO:0054957", - "UPHENO:0001005", - "UBERON:0002101", - "UBERON:0000064", - "UPHENO:0001072", + "HP:0025354", + "CL:0000255", + "UPHENO:0080099", + "CL:0000219", + "UBERON:0011159", + "GO:0071704", + "CL:0002242", + "UPHENO:0002948", + "UBERON:0002100", + "UPHENO:0076675", + "UPHENO:0063722", + "HP:0001881", + "GO:0016043", + "UPHENO:0015280", + "UPHENO:0075902", + "HP:0005561", + "HP:0011893", + "HP:0010987", + "UPHENO:0002597", + "UPHENO:0002764", + "UPHENO:0076941", + "GO:0032502", + "UPHENO:0002832", + "HP:0032251", + "UPHENO:0026028", + "UPHENO:0084928", + "UPHENO:0085302", + "GO:0071840", + "HP:0002818", + "HP:0002813", + "HP:0000277", + "UPHENO:0046411", + "HP:0009122", + "HP:0000347", + "HP:0025031", + "GO:0006725", + "UPHENO:0087501", + "UPHENO:0076800", + "HP:0025033", + "UBERON:0004768", + "UPHENO:0081141", + "UBERON:0004088", "UBERON:0000025", - "UPHENO:0088186", - "UPHENO:0054567", - "BFO:0000040", + "UBERON:0012360", + "UBERON:0011158", + "UBERON:0010313", + "CL:0000015", + "UPHENO:0002830", + "UBERON:0004288", + "UBERON:0011595", + "UPHENO:0053644", + "UBERON:0007842", "UPHENO:0087924", - "HP:0003220", - "UBERON:0000026", + "UBERON:0007914", + "HP:0011821", + "UPHENO:0076803", + "UPHENO:0081091", + "UPHENO:0080165", + "HP:0009118", + "UBERON:0001684", + "UBERON:0015021", + "UBERON:0001708", + "UBERON:0003135", + "HP:0009116", + "UBERON:0003457", + "UPHENO:0081786", + "UPHENO:0076692", + "UPHENO:0069249", + "HP:0034261", + "GO:0050877", + "HP:0011927", + "HP:0009381", + "UPHENO:0011498", + "UBERON:0004381", + "UPHENO:0046624", + "GO:0031326", + "UPHENO:0065599", + "UBERON:0000466", + "UPHENO:0087907", + "UBERON:0034929", + "GO:0008150", + "UBERON:0006983", + "UPHENO:0084727", + "UPHENO:0076805", + "UPHENO:0088168", + "UPHENO:0084715", + "UPHENO:0087430", + "UBERON:0002268", + "OBI:0100026", + "UPHENO:0001072", + "UBERON:0002470", + "UBERON:0007827", + "CL:0000300", + "HP:0012130", + "UBERON:0001008", + "UPHENO:0041629", + "UBERON:0002398", + "UBERON:0009569", + "UPHENO:0082129", + "UPHENO:0074572", + "UBERON:0002417", + "HP:0100542", + "UBERON:0000916", + "UPHENO:0002907", + "HP:0010935", + "UPHENO:0002595", + "UBERON:0004122", + "UBERON:0010323", + "UBERON:0000489", + "GO:0031052", + "HP:0000085", + "UBERON:8450002", + "UBERON:0005173", + "UPHENO:0041226", + "UBERON:0011143", + "UBERON:0005177", "UBERON:0008962", - "HP:0000125", - "UPHENO:0008668", - "UBERON:0005944" + "UBERON:0001463", + "UBERON:0008907", + "HP:0012210", + "UPHENO:0087427", + "UPHENO:0050113", + "GO:0008152" ], "has_phenotype_closure_label": [ - "Vitiligo", + "Pelvic kidney", "Ectopic kidney", + "reproductive process", + "Abnormal testis morphology", + "abnormal male reproductive system morphology", + "Abnormality of male external genitalia", + "Abnormal male reproductive system physiology", + "male gamete generation", + "sexual reproduction", + "developmental process involved in reproduction", + "multicellular organismal reproductive process", + "decreased developmental process", + "absent gamete", + "sperm", + "reproductive structure", + "decreased qualitatively developmental process", + "decreased spermatogenesis", + "external male genitalia", + "testis", + "Abnormal reproductive system morphology", + "Azoospermia", + "male germ cell", + "male gamete", + "abnormally localised anatomical entity in independent continuant", "abnormally localised kidney", - "abnormal number of anatomical enitites of type sperm", + "abnormality of male reproductive system physiology", + "Abnormal external genitalia", + "organism substance", "semen", - "developmental process", "reproduction", - "Abnormal testis morphology", - "developmental process involved in reproduction", - "multicellular organismal reproductive process", - "abnormal reproductive process", - "decreased qualitatively developmental process", - "absent anatomical entity in the semen", - "gamete generation", - "changed developmental process rate", - "abnormal male reproductive system morphology", + "abnormal testis morphology", + "abnormal number of anatomical enitites of type sperm", + "male reproductive system", + "abnormal location of anatomical entity", "spermatogenesis", - "absent sperm", - "abnormally localised testis", - "absent gamete", - "reproductive organ", + "absent anatomical entity in the semen", + "abnormal developmental process involved in reproduction", + "Functional abnormality of male internal genitalia", "abnormal gamete", - "decreased spermatogenesis", - "abnormal male reproductive system", - "obsolete multicellular organism reproduction", - "Azoospermia", - "Abnormality of the male genitalia", - "sperm", + "Abnormality of reproductive system physiology", + "haploid cell", + "reproductive system", + "Cryptorchidism", "external genitalia", "internal genitalia", "gonad", "abnormal reproductive system morphology", - "Abnormal spermatogenesis", "abnormal internal genitalia", - "external male genitalia", - "Abnormality of the genital system", - "decreased qualitatively reproductive process", - "decreased developmental process", + "germ cell", + "gamete", + "abnormality of reproductive system physiology", + "absent germ cell", + "decreased qualitatively sensory perception of mechanical stimulus", "abnormal developmental process", - "abnormality of internal male genitalia physiology", - "abnormal gamete generation", - "abnormal external genitalia", - "abnormal location of anatomical entity", - "abnormal developmental process involved in reproduction", - "Abnormal male reproductive system physiology", - "multicellular organismal process", + "sensory perception", "decreased sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "Abnormal ear physiology", - "Hearing impairment", - "sensory perception of sound", - "Abnormality of the ear", - "abnormality of ear physiology", - "abnormality of anatomical entity physiology", "abnormal sensory perception", "Hearing abnormality", - "decreased qualitatively biological_process", - "reproductive system", - "abnormal testis morphology", - "abnormal sensory perception of sound", - "sensory perception of mechanical stimulus", + "abnormality of anatomical entity physiology", + "ear", + "multicellular organismal process", + "sensory perception of sound", + "system process", + "abnormal anatomical entity topology in independent continuant", + "decreased qualitatively sensory perception of sound", + "Short stature", "abnormal size of multicellular organism", - "decreased size of the multicellular organism", - "abnormality of anatomical entity height", - "Abnormality of body height", "decreased height of the multicellular organism", "abnormality of multicellular organism height", - "biological regulation", - "metabolic process", - "cellular process", "abnormal primary metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "primary metabolic process", - "organic substance metabolic process", - "regulation of cellular process", - "regulation of metabolic process", - "negative regulation of biological process", - "nucleobase-containing compound metabolic process", - "organic cyclic compound metabolic process", - "obsolete heterocycle metabolic process", - "cellular component organization", + "Abnormality of metabolism/homeostasis", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "vestibulo-auditory system", + "protein-DNA complex organization", + "nervous system process", + "abnormal nitrogen compound metabolic process", + "abnormal organelle organization", + "abnormal reproductive process", + "regulation of macromolecule metabolic process", "regulation of biosynthetic process", "regulation of cellular metabolic process", - "negative regulation of cellular process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process", "protein-containing complex organization", - "regulation of gene expression", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "programmed DNA elimination", + "regulation of biological process", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", "cellular metabolic process", - "obsolete cell", - "negative regulation of gene expression", + "abnormal cellular component organization", "Chromosome breakage", - "regulation of cellular biosynthetic process", - "negative regulation of biosynthetic process", - "negative regulation of cellular metabolic process", - "DNA metabolic process", - "abnormal upper urinary tract", - "U-shaped anatomical entity", - "renal system", - "abnormal shape of continuant", - "Abnormality of the kidney", - "cavitated compound organ", - "abnormal ear", - "abdominal segment element", - "abdomen", - "abnormal kidney", - "concave 3-D shape anatomical entity", - "genitourinary system", - "excretory system", - "Horseshoe kidney", - "3-D shape anatomical entity", - "Abnormality of the genitourinary system", - "abnormal renal system", - "Abnormality of the upper urinary tract", - "kidney", - "Pelvic kidney", - "Abnormal localization of kidney", - "subdivision of trunk", - "abdomen element", - "shape anatomical entity in independent continuant", + "negative regulation of gene expression", + "abnormal metabolic process", + "Chromosomal breakage induced by crosslinking agents", + "metabolic process", + "cellular process", + "abnormal DNA metabolic process", + "Abnormality of head or neck", + "craniocervical region", + "regional part of brain", + "aplasia or hypoplasia of telencephalon", + "Aplasia/Hypoplasia involving the central nervous system", + "facial bone hypoplasia", + "abnormal external genitalia", + "Abnormal renal morphology", + "regional part of nervous system", + "abnormal external male genitalia", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "visual system", + "Abnormal skull morphology", + "Abnormal cellular immune system morphology", + "Abnormal cerebral morphology", + "arm bone", + "main body axis", "abnormal kidney morphology", - "Abnormality of the urinary system", - "Abnormal erythroid lineage cell morphology", - "abnormal erythroid lineage cell morphology", - "nucleic acid metabolic process", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "pigmentation", - "Hypermelanotic macule", - "reproductive process", + "Narrow palpebral fissure", + "renal system", + "multi-tissue structure", + "axial skeleton plus cranial skeleton", + "abnormality of internal male genitalia physiology", + "Abnormality of the nervous system", + "sensory system", + "abnormal nervous system", + "organic substance metabolic process", + "Abnormality of the head", "abnormal pigmentation", - "increased pigmentation in independent continuant", - "Functional abnormality of male internal genitalia", - "increased biological_process in independent continuant", - "Hyperpigmentation of the skin", - "increased qualitatively biological_process in independent continuant", - "Abnormality of skin morphology", - "Cafe-au-lait spot", - "abnormal metabolic process", - "changed biological_process rate", - "abnormal pigmentation in independent continuant", - "increased qualitatively biological_process", - "abnormal skin of body morphology", + "pigmentation", + "decreased length of forelimb zeugopod bone", "changed biological_process rate in independent continuant", - "Localized skin lesion", - "abnormal multicellular organismal reproductive process", - "anatomical point", - "abnormally increased volume of anatomical entity", - "Bulbous nose", - "external nose", - "negative regulation of macromolecule metabolic process", - "abnormally increased volume of nose", - "abnormal nose morphology", - "Abnormal external nose morphology", - "abnormal cellular process", - "olfactory organ", - "Abnormality of male external genitalia", - "nose", - "increased size of the anatomical entity", - "abnormal nose tip morphology", - "Abnormality of the nose", - "Short finger", - "decreased length of manual digit", - "decreased length of manual digit 1", - "Short digit", - "decreased length of digit", - "bone element hypoplasia in face", - "subdivision of tube", - "digestive system", - "abnormal mandible morphology", - "obsolete cellular aromatic compound metabolic process", - "immaterial entity", - "dermal skeleton", - "primary subdivision of skull", - "abnormal external male genitalia", - "digestive tract", - "Abnormal jaw morphology", - "abnormal biological_process in independent continuant", - "Abnormality of the mouth", - "anatomical entity hypoplasia in face", - "organelle organization", - "dermal bone", - "jaw skeleton", - "facial bone", - "increased pigmentation", - "mandible", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "facial bone hypoplasia", - "Abnormality of digestive system morphology", - "aplasia or hypoplasia of mandible", - "head bone", - "dermal skeletal element", - "aplasia or hypoplasia of skull", - "subdivision of digestive tract", - "abnormal digestive system", - "jaw region", - "neural crest-derived structure", - "dentary", - "Abnormal facial skeleton morphology", - "forelimb skeleton", - "abnormal head bone morphology", - "Abnormality of the digestive system", - "mouth", - "anatomical structure", - "Aplasia/Hypoplasia involving bones of the skull", - "dermatocranium", - "bone of jaw", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "Abnormality of skin pigmentation", "skeleton of limb", - "intramembranous bone", - "bone of lower jaw", - "autopodial extension", + "neural crest-derived structure", + "aplasia or hypoplasia of skull", + "increased qualitatively biological_process", + "anatomical collection", + "All", + "increased biological_process in skin of body", + "abnormally increased volume of nose", + "increased biological_process", + "abnormal myeloid cell morphology", + "increased pigmentation in independent continuant", "Abnormal oral morphology", - "abnormal forebrain morphology", - "hematopoietic system", - "myeloid cell", - "erythroid lineage cell", - "blood cell", - "biogenic amine secreting cell", - "Blepharophimosis", - "leukocyte", - "abnormally decreased number of myeloid cell", - "system process", - "Neoplasm", - "abnormal bone marrow cell", - "Abnormal nasal morphology", - "abnormal anatomical entity length", - "abnormal number of anatomical enitites of type cell", - "cranial skeletal system", - "abnormally decreased number of cell", - "abnormal nitrogen compound metabolic process", - "abnormal immune system", - "oxygen accumulating cell", - "hemolymphoid system", - "Decreased head circumference", - "hematopoietic cell", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", - "abnormal bone marrow cell morphology", - "decreased biological_process", - "serotonin secreting cell", - "abnormal craniocervical region morphology", - "Thrombocytopenia", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type myeloid cell", - "tissue", - "Abnormality of the immune system", - "forelimb bone", - "Abnormality of thrombocytes", + "abnormal anatomical entity morphology", + "increased pigmentation", + "increased qualitatively biological_process in independent continuant", + "absent sperm", + "limb segment", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "Cafe-au-lait spot", + "primary subdivision of skull", "obsolete cellular nitrogen compound metabolic process", - "Micrognathia", - "phenotype by ontology source", - "cell", - "Short long bone", - "abnormal blood cell", - "shape kidney", - "Abnormal forearm morphology", - "abnormally decreased number of anatomical entity", - "abnormal platelet", - "Abnormal external genitalia", - "Abnormal leukocyte count", - "male reproductive system", - "limb bone", - "abnormal cell morphology", - "growth", + "abnormal integument", + "biological_process", + "obsolete multicellular organism reproduction", + "cellular organisms", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "Abnormality of chromosome stability", + "immaterial entity", + "abnormally localised testis", + "absent anatomical entity in the independent continuant", + "Aplasia/Hypoplasia of the thumb", + "bone cell", "Abnormal myeloid cell morphology", - "increased size of the anatomical entity in independent continuant", - "subdivision of skeleton", + "abnormal manus morphology", + "Neoplasm", + "digit", + "Hyperpigmentation of the skin", + "abnormal manual digit 1 morphology", + "Short thumb", + "integumental system", + "absent anatomical entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "gamete generation", "protein-containing material entity", - "biological_process", + "abnormal skeletal system morphology", + "Abnormal digit morphology", + "abnormal immune system morphology", + "Absent thumb", + "abnormal autopod region morphology", + "agenesis of anatomical entity", + "ectoderm-derived structure", + "abnormal anatomical entity morphology in the manus", + "abnormal facial skeleton morphology", + "negative regulation of cellular process", + "abnormal limb", + "bone marrow", + "skeleton of manus", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "organism", + "Neoplasm of the skin", + "anatomical system", + "segment of autopod", + "organic cyclic compound metabolic process", + "aplastic manual digit 1", + "dentary", + "independent continuant", + "abnormal growth", + "abnormal leukocyte morphology", + "abnormal size of anatomical entity", + "material anatomical entity", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", + "manual digit plus metapodial segment", + "Abnormal forearm morphology", "abnormal anatomical entity", + "decreased size of the anatomical entity in the independent continuant", + "abnormal cellular process", + "secretory cell", + "Abnormal nervous system morphology", + "abnormal limb bone", + "sense organ", + "bone element", + "anatomical conduit", + "abnormal limb morphology", + "forelimb zeugopod skeleton", + "facial skeleton", "paired limb/fin", - "motile cell", - "visual system", - "abnormal mouth morphology", - "absent anatomical entity in the limb", - "Abnormality of the palpebral fissures", - "abnormal size of palpebral fissure", - "eye", - "orbital region", - "abnormality of male reproductive system physiology", - "abnormal ocular adnexa", - "ear", - "Abnormal nasal tip morphology", - "Neoplasm by anatomical site", - "Abnormality of the ocular adnexa", - "abnormal ocular adnexa morphology", - "subdivision of head", - "entire sense organ system", - "Abnormal cellular phenotype", - "Abnormality of the orbital region", - "bone of craniocervical region", - "abnormal eyelid morphology", - "disconnected anatomical group", - "absent anatomical entity in the forelimb", - "abnormal skin of body", - "palpebral fissure", - "decreased length of palpebral fissure", - "camera-type eye", - "Abnormal ocular adnexa morphology", - "Abnormal size of the palpebral fissures", - "bone of appendage girdle complex", - "Narrow palpebral fissure", - "aplastic anatomical entity", - "abnormal face", - "Abnormality of metabolism/homeostasis", - "decreased width of the anatomical entity in independent continuant", - "autopodial skeleton", - "Irregular hyperpigmentation", - "delayed biological_process", - "abnormal anatomical entity morphology in the manus", - "abnormal limb bone morphology", - "erythrocyte", - "cellular component organization or biogenesis", - "Phenotypic abnormality", - "Abnormality of the face", - "abnormal digit morphology", + "Hypoplasia of the radius", + "abnormal head morphology", + "abnormal multicellular organismal reproductive process", + "manual digit", + "U-shaped anatomical entity", + "multi-limb segment region", + "endochondral element", + "Forearm undergrowth", + "abnormal biological_process in independent continuant", + "decreased size of the anatomical entity", + "skeletal element", + "zeugopod", + "body proper", "central nervous system", - "absent anatomical entity", - "abnormal orbital region", - "orifice", - "bone marrow cell", - "abnormal manus", - "Cryptorchidism", - "abnormally localised anatomical entity", - "non-connected functional system", - "abnormal leukocyte morphology", + "Abnormality of limb bone", + "head", + "digit plus metapodial segment", + "external soft tissue zone", + "abnormal skin of body morphology", + "increased biological_process in independent continuant", + "increased size of the anatomical entity", + "limb", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "trunk region element", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", + "zeugopodial skeleton", + "limb long bone", + "Short forearm", + "delayed biological_process", + "subdivision of digestive tract", + "limb endochondral element", + "Macule", + "negative regulation of biosynthetic process", + "long bone", + "material entity", + "decreased width of the palpebral fissure", + "Abnormal appendicular skeleton morphology", + "Abnormal skeletal morphology", + "Abnormal forebrain morphology", + "forelimb", + "decreased size of the anatomical entity in the pectoral complex", + "autopodial skeleton", + "Abnormal facial skeleton morphology", + "Aplasia/hypoplasia of the extremities", + "decreased qualitatively reproductive process", + "Hypoplastic facial bones", + "Aplasia/hypoplasia involving bones of the hand", + "negative regulation of macromolecule biosynthetic process", + "germ line cell", + "bone element hypoplasia in independent continuant", + "abnormal gamete generation", + "leukocyte", + "abnormal skin of body", + "Abnormality of bone marrow cell morphology", "abnormal cellular metabolic process", - "acropodium region", + "Aplasia/Hypoplasia of facial bones", + "musculoskeletal system", + "absent digit", + "phenotype", + "Abnormal cell morphology", + "quality", + "anatomical entity hypoplasia", + "forelimb bone", + "Morphological central nervous system abnormality", + "Abnormality of the urinary system", + "forelimb skeleton", + "genitourinary system", + "primary metabolic process", + "Abnormality of the skin", + "forelimb endochondral element", + "abnormal number of anatomical enitites of type anatomical entity", "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "limb bone", + "abnormal craniocervical region morphology", + "continuant", + "lateral structure", + "integument", + "skeleton of pectoral complex", + "decreased length of anatomical entity in independent continuant", + "paired limb/fin segment", + "compound organ", + "eye", + "skeleton", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "Abnormal finger morphology", + "Abnormal erythrocyte morphology", + "forelimb zeugopod", + "Aplasia/Hypoplasia of fingers", "digitopodium region", - "Abnormal internal genitalia", - "decreased width of the palpebral fissure", - "germ cell", + "appendage", + "root", + "subdivision of skeleton", + "Aplasia/Hypoplasia of the radius", + "endochondral bone", + "paired limb/fin skeleton", "abnormal spermatogenesis", - "abnormal anatomical entity morphology in the independent continuant", - "segment of manus", + "organelle organization", + "postcranial axial skeletal system", + "abnormal digit morphology", + "skeleton of lower jaw", + "subdivision of organism along appendicular axis", + "skull", + "limb skeleton subdivision", + "abnormal forelimb zeugopod bone", + "Abnormal ocular adnexa morphology", "increased pigmentation in skin of body", - "manual digit 1", - "anatomical conduit", - "Upper limb undergrowth", - "aplasia or hypoplasia of manual digit 1", - "mandible hypoplasia", - "skeleton of manus", - "abnormal programmed DNA elimination by chromosome breakage", + "Phenotypic abnormality", + "decreased length of anatomical entity", + "bone of pectoral complex", + "entity", + "subdivision of skeletal system", + "nervous system", + "forelimb zeugopod bone", "Abnormality of brain morphology", - "Abnormal leukocyte morphology", - "skeleton", - "Absent thumb", - "Abnormality of skull size", - "Abnormal digit morphology", - "bone element", - "abnormal cell", + "Abnormal internal genitalia", "abnormal manual digit morphology in the manus", - "aplasia or hypoplasia of manual digit", - "ocular adnexa", - "Abnormality of reproductive system physiology", - "abnormal platelet morphology", - "digit plus metapodial segment", - "abnormally decreased number of platelet", - "Abnormal platelet morphology", - "Aplasia/hypoplasia involving bones of the hand", - "manual digitopodium region", - "radius endochondral element", - "abnormal immune system morphology", - "Forearm undergrowth", - "Aplasia/Hypoplasia of fingers", - "regulation of biological process", - "Abnormal thumb morphology", - "abnormal reproductive system", - "reproductive structure", - "male reproductive organ", - "manual digit 1 or 5", - "Abnormal hand morphology", - "abnormal manual digit morphology in the independent continuant", - "abnormal digit", - "absent manual digit", - "digit 1 or 5", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormality of the hand", - "subdivision of organism along main body axis", - "Aplasia/Hypoplasia of the thumb", - "agenesis of anatomical entity", - "absent digit", - "absent anatomical entity in the independent continuant", - "subdivision of organism along appendicular axis", - "abnormal DNA metabolic process", - "abnormal chromatin organization", + "forelimb zeugopod bone hypoplasia", + "abnormal limb bone morphology", + "abnormal phenotype by ontology source", "decreased size of the mandible", - "forelimb", - "Aplasia/Hypoplasia of facial bones", - "male gamete generation", - "zeugopodial skeleton", - "Abnormal appendicular skeleton morphology", - "decreased height of the anatomical entity", - "Hypoplastic facial bones", - "haploid cell", - "Abnormal renal morphology", + "absent manual digit", + "abnormal radius bone morphology", + "organ system subdivision", + "decreased length of palpebral fissure", + "abnormal blood cell", + "erythrocyte", + "Abnormality of limb bone morphology", "Abnormality of limbs", - "increased biological_process", - "abnormal central nervous system morphology", - "root", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal nervous system", - "male germ cell", - "lateral structure", - "limb", - "multi-limb segment region", - "abnormal renal system morphology", - "Growth abnormality", - "abnormal facial skeleton morphology", - "nervous system", - "eukaryotic cell", - "increased biological_process in skin of body", - "abnormal growth", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "Abnormal nervous system morphology", - "forelimb zeugopod", - "Abnormal morphology of the radius", - "bone of free limb or fin", - "decreased size of the anatomical entity in the independent continuant", - "abnormal limb", - "sexual reproduction", - "anucleate cell", - "abnormal limb morphology", - "bone element hypoplasia in independent continuant", - "abnormal hematopoietic cell morphology", - "absent germ cell", - "vestibulo-auditory system", - "forelimb endochondral element", - "abnormal forelimb zeugopod bone", - "abnormal forelimb zeugopod morphology", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "Abnormality of the upper limb", - "abnormal number of anatomical enitites of type hematopoietic cell", - "entity", - "abnormal long bone morphology", - "abnormal myeloid cell morphology", - "Abnormal forearm bone morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "anatomical collection", - "Abnormality of multiple cell lineages in the bone marrow", - "skeleton of pectoral complex", - "Abnormality of the nervous system", - "abnormal cellular component organization", + "membrane bone", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "system", + "bone marrow cell", "appendicular skeletal system", - "Aplasia/hypoplasia involving forearm bones", - "tube", - "sensory perception", - "abnormal digestive system morphology", - "decreased length of anatomical entity", - "forelimb zeugopod bone hypoplasia", - "Short palpebral fissure", - "abnormal anatomical entity morphology in the brain", - "zeugopod", - "Aplasia/Hypoplasia of the radius", - "Growth delay", - "simple eye", - "shape anatomical entity", - "abnormal head", - "regional part of nervous system", - "digit 1", - "trunk", - "digit 1 plus metapodial segment", - "nose tip", - "skeletal element", - "Abnormality of the head", - "Abnormal upper limb bone morphology", - "endochondral bone", - "abnormal mouth", - "decreased length of anatomical entity in independent continuant", - "arm bone", - "abnormal manus morphology", - "primary subdivision of cranial skeletal system", - "forelimb long bone", - "quality", - "forelimb zeugopod bone", - "radius bone", + "Abnormal nasal morphology", + "absent anatomical entity in the multicellular organism", + "hematopoietic system", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively biological_process", + "anatomical entity", + "bone of appendage girdle complex", + "abnormal anatomical entity morphology in the pectoral complex", + "decreased biological_process", "radius bone hypoplasia", + "aplasia or hypoplasia of anatomical entity", + "absent sperm in the semen", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "Abnormal forearm bone morphology", + "abnormal pigmentation in independent continuant", + "Abnormality of the ocular adnexa", + "abnormally localised anatomical entity", + "Micrognathia", + "Microcephaly", + "Abnormality of the musculoskeletal system", + "abnormality of ear physiology", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "Abnormality of digestive system morphology", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormal arm", + "radius endochondral element", + "Aplasia/hypoplasia involving forearm bones", + "abnormal nose tip morphology", + "obsolete cellular aromatic compound metabolic process", + "organism subdivision", + "organ", "abnormal male reproductive organ morphology", - "bone marrow", - "secretory cell", + "occurrent", + "skeletal system", + "motile cell", + "upper limb segment", + "appendicular skeleton", + "abnormal upper urinary tract", + "Limb undergrowth", + "abnormal face morphology", "arm", - "immune system", - "face", - "manual digit plus metapodial segment", - "Microcephaly", + "abnormal nose morphology", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "decreased size of the radius bone", + "Abnormal cellular phenotype", + "subdivision of trunk", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "bone of lower jaw", + "mandible hypoplasia", + "aplasia or hypoplasia of skeleton", "abnormal craniocervical region", - "limb skeleton subdivision", - "Short forearm", - "anatomical entity hypoplasia in independent continuant", - "Short stature", - "Abnormality of limb bone", - "axial skeletal system", - "Abnormal mandible morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "negative regulation of metabolic process", - "abnormal camera-type eye morphology", - "compound organ", - "autopod region", - "abnormally localised anatomical entity in independent continuant", - "musculoskeletal system", - "decreased size of the anatomical entity", - "Limb undergrowth", - "abnormal nose", - "long bone", - "Abnormal cellular physiology", - "Macule", - "Aplasia/Hypoplasia of the mandible", - "abnormal biological_process", - "multi-tissue structure", - "skin of body", - "Eumetazoa", - "segment of autopod", + "abnormal mouth", + "male organism", "abnormal appendicular skeleton morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "integument", - "integumental system", - "paired limb/fin segment", - "Abnormality of the integument", - "immaterial anatomical entity", - "abnormal jaw skeleton morphology", - "endochondral element", - "skeleton of lower jaw", - "abnormal radius bone morphology", - "manual digit", - "Neoplasm of the skin", - "abnormal number of anatomical enitites of type leukocyte", - "regulation of macromolecule metabolic process", - "continuant", - "aplastic manual digit 1", - "abnormal limb long bone morphology", - "abnormally decreased number of hematopoietic cell", - "absent sperm in the semen", - "decreased qualitatively sensory perception of sound", - "abnormal palpebral fissure", + "Irregular hyperpigmentation", + "digit 1 plus metapodial segment", + "abnormal skeletal system", + "subdivision of head", + "appendage girdle complex", + "macromolecule metabolic process", + "manual digit 1", + "regulation of metabolic process", + "autopodial extension", + "abnormal face", + "abnormal telencephalon morphology", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "tissue", + "forelimb long bone", + "abnormal size of skull", + "cell", + "Abnormality of the mouth", + "Eumetazoa", + "negative regulation of cellular metabolic process", "Eukaryota", + "decreased length of manual digit", + "abnormal central nervous system morphology", + "abnormal reproductive system", + "abnormal kidney", + "abnormal forebrain morphology", + "abnormal nervous system morphology", + "abnormal cell morphology", + "telencephalon", "forebrain", - "Abnormal skull morphology", - "process", - "organ system subdivision", - "testis", - "craniocervical region", - "Abnormal cell morphology", - "manus", - "Abnormal forebrain morphology", - "male organism", - "Aplasia/Hypoplasia of the cerebrum", + "blood cell", + "head bone", + "Abnormality of the genitourinary system", + "cranial skeletal system", + "postcranial axial skeleton", + "Decreased head circumference", + "pectoral complex", + "dermatocranium", + "Abnormal axial skeleton morphology", + "erythroid lineage cell", + "obsolete heterocycle metabolic process", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", + "mesoderm-derived structure", + "Squamous cell carcinoma", + "delayed growth", + "axial skeletal system", + "Growth abnormality", + "aplasia or hypoplasia of manual digit", + "face", + "abnormal orbital region", + "Abnormal localization of kidney", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", + "kidney", + "abnormal biological_process", + "Growth delay", + "digestive system element", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "decreased width of the anatomical entity", + "Abnormality of the upper urinary tract", + "Vitiligo", + "acropodium region", + "Short palpebral fissure", + "Abnormal eyelid morphology", + "multi organ part structure", + "hemolymphoid system", + "organ part", + "Abnormality of the orbital region", + "Abnormal size of the palpebral fissures", + "non-connected functional system", + "orbital region", + "camera-type eye", + "Abnormality of the hand", + "radius bone", + "Anemia", + "palpebral fissure", + "Abnormality of the ear", + "eyelid", + "Blepharophimosis", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "abdomen element", + "reproductive organ", + "Short long bone", "abnormal skull morphology", - "Abnormal reproductive system morphology", - "Pancytopenia", - "Morphological central nervous system abnormality", - "facial skeleton", - "skull", - "decreased size of the radius bone", - "membrane bone", + "abnormal palpebral fissure", + "Abnormal mandible morphology", + "abnormally decreased number of cell", + "abnormal size of palpebral fissure", + "Non-obstructive azoospermia", + "abnormal ocular adnexa", + "abnormal bone of pectoral complex morphology", + "orifice", + "ocular adnexa", + "simple eye", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "manus", + "abnormal eyelid morphology", + "decreased height of the anatomical entity", + "regulation of cellular process", + "Abnormality of the face", + "phenotype by ontology source", + "abnormal ocular adnexa morphology", + "Abnormality of the palpebral fissures", + "abnormal hematopoietic system", + "Abnormality of the immune system", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "abnormal limb long bone morphology", + "eukaryotic cell", + "hematopoietic cell", + "anucleate cell", + "changed biological_process rate", + "external nose", + "oxygen accumulating cell", + "nucleate cell", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "abnormal number of anatomical enitites of type cell", + "sensory perception of mechanical stimulus", + "skin of body", + "Abnormal upper limb bone morphology", + "abnormally decreased number of anatomical entity", + "Abnormal immune system morphology", + "pectoral appendage skeleton", + "abnormal blood cell morphology", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", "absent sperm in the independent continuant", + "platelet", + "abnormal brain morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal immune system", + "abnormal hematopoietic system morphology", + "abnormal programmed DNA elimination by chromosome breakage", + "specifically dependent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + "male reproductive organ", + "disconnected anatomical group", + "abnormal cell", + "cavitated compound organ", + "Abnormal leukocyte count", + "primary subdivision of cranial skeletal system", + "abnormal hematopoietic cell morphology", + "digit 1", + "abnormal platelet morphology", + "Abnormal platelet morphology", + "Abnormal leukocyte morphology", "internal male genitalia", - "occurrent", - "abnormal skeletal system morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "phenotype", + "programmed DNA elimination", + "obsolete cell", "decreased length of long bone", - "Abnormality of limb bone morphology", - "external soft tissue zone", - "Abnormal skeletal morphology", - "axial skeleton plus cranial skeleton", - "decreased width of the anatomical entity", + "digestive system", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "abnormally decreased number of platelet", + "Abnormal platelet count", + "nucleobase-containing compound metabolic process", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "abnormal manus", + "bone element hypoplasia in face", + "digit 1 or 5", + "U-shaped kidney", + "bone of jaw", + "subdivision of tube", + "aplasia or hypoplasia of mandible", + "Abnormality of the digestive system", "abnormal forelimb morphology", - "Abnormal platelet count", + "abnormal digestive system morphology", + "abnormal digit", "lower jaw region", - "limb endochondral element", - "anatomical entity", - "abnormal arm", - "Abnormality of the skin", - "abnormal telencephalon morphology", - "main body axis", - "aplasia or hypoplasia of radius bone", - "cellular organisms", - "aplasia or hypoplasia of telencephalon", - "abnormal brain morphology", - "abnormal limb bone", - "abnormal anatomical entity morphology", - "digestive system element", - "abnormal size of anatomical entity", - "germ line cell", - "Short thumb", - "bone cell", - "abnormal autopod region morphology", - "programmed DNA elimination by chromosome breakage", - "organism subdivision", - "abnormal bone marrow morphology", - "macromolecule metabolic process", - "Squamous cell carcinoma", - "bone of pectoral complex", - "delayed growth", - "organism", - "obsolete nitrogen compound metabolic process", - "platelet", - "abdominal segment of trunk", - "digit", - "Abnormality of the skeletal system", - "3-D shape anatomical entity in independent continuant", - "anatomical system", - "aplasia or hypoplasia of anatomical entity", - "Abnormality of bone marrow cell morphology", - "abnormal anatomical entity topology in independent continuant", - "limb segment", - "appendage girdle complex", - "Abnormal axial skeleton morphology", - "appendicular skeleton", - "All", - "organism substance", - "Aplasia/Hypoplasia involving the central nervous system", - "protein-DNA complex organization", - "organ", - "paired limb/fin skeleton", - "postcranial axial skeletal system", - "trunk region element", - "pectoral complex", - "abnormal size of skull", - "Abnormality of the musculoskeletal system", - "chromatin organization", - "sensory system", - "upper urinary tract", - "skeletal system", - "multi organ part structure", + "Pancytopenia", + "decreased width of the anatomical entity in independent continuant", + "abnormal head", + "jaw region", + "abnormality of anatomical entity height", + "subdivision of organism along main body axis", + "dermal skeletal element", + "Abnormality of the integument", + "increased size of the anatomical entity in independent continuant", + "abnormal male reproductive system", + "abnormal mouth morphology", + "mouth", + "abnormal mandible morphology", + "abnormal head bone morphology", + "Aplasia/Hypoplasia involving bones of the skull", + "Abnormality of body height", + "tube", + "Abnormality of the genital system", + "intramembranous bone", "structure with developmental contribution from neural crest", - "Abnormal long bone morphology", - "Non-obstructive azoospermia", - "absent anatomical entity in the multicellular organism", + "bone of craniocervical region", + "anatomical entity hypoplasia in face", + "mandible", + "immune system", + "facial bone", + "Abnormality of thrombocytes", + "Upper limb undergrowth", + "jaw skeleton", + "dermal bone", + "negative regulation of biological process", + "digestive tract", + "aplasia or hypoplasia of manual digit 1", + "dermal skeleton", + "abnormal digestive system", + "abnormal ear", + "Abnormal jaw morphology", + "abnormal jaw skeleton morphology", + "Short finger", + "Short digit", "anterior region of body", - "abnormal anatomical entity morphology in the pectoral complex", - "decreased length of forelimb zeugopod bone", - "Aplasia/hypoplasia of the extremities", - "Abnormal cellular immune system morphology", - "subdivision of skeletal system", - "sense organ", + "decreased length of manual digit 1", + "Abnormal nasal tip morphology", + "aplastic anatomical entity", + "Bulbous nose", + "Abnormal external nose morphology", + "entire sense organ system", "abnormal external nose morphology", - "telencephalon", + "nose", + "immaterial anatomical entity", + "Abnormality of the nose", + "Aplasia/Hypoplasia of the mandible", + "abnormally decreased number of myeloid cell", + "abnormal nose", + "abnormally increased volume of anatomical entity", + "nose tip", + "anatomical point", + "olfactory organ", + "abnormal erythrocyte morphology", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", + "trunk", + "abnormal bone marrow cell", + "abnormal shape of continuant", + "excretory system", + "Abnormal cellular physiology", + "3-D shape anatomical entity in independent continuant", + "3-D shape anatomical entity", + "abnormal manual digit morphology in the independent continuant", + "shape anatomical entity in independent continuant", "manual digit 1 plus metapodial segment", - "abnormal postcranial axial skeleton morphology", - "abnormal number of anatomical enitites of type platelet", - "limb long bone", - "Anemia", - "Hypoplasia of the radius", - "Opisthokonta", - "brain", - "upper limb segment", - "Abnormal cerebral morphology", - "postcranial axial skeleton", - "abnormal organelle organization", - "abnormal head morphology", - "head", - "abnormal integument", - "pectoral appendage", - "Metazoa", - "nucleate cell", - "pectoral appendage skeleton", - "abnormal hematopoietic system morphology", - "Aplasia/hypoplasia involving the skeleton", - "abnormal hematopoietic system", - "Abnormal eyelid morphology", - "specifically dependent continuant", - "Abnormality of blood and blood-forming tissues", - "abnormal bone of pectoral complex morphology", - "U-shaped kidney", - "material anatomical entity", - "appendage", - "aplasia or hypoplasia of skeleton", - "Abnormality of skin pigmentation", - "eyelid", - "independent continuant", - "system", - "male gamete", - "ectoderm-derived structure", - "decreased size of the anatomical entity in the pectoral complex", - "abnormal nervous system morphology", - "nervous system process", - "body proper", - "abnormality of reproductive system physiology", - "regional part of brain", - "anatomical entity hypoplasia", - "abnormal blood cell morphology", - "material entity", - "multicellular organism", - "gamete", - "organ part", - "Abnormality of head or neck", + "abdomen", + "biological regulation", + "abdominal segment of trunk", + "abdominal segment element", + "Abnormality of the kidney", + "Horseshoe kidney", + "developmental process", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "shape kidney", + "abnormal renal system", + "changed developmental process rate", "abnormal genitourinary system", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal phenotype by ontology source", - "abnormal skeletal system", - "mesoderm-derived structure" + "Abnormality of the male genitalia", + "manual digitopodium region", + "Abnormality of blood and blood-forming tissues", + "decreased length of digit", + "upper urinary tract", + "anatomical entity hypoplasia in independent continuant", + "shape anatomical entity", + "concave 3-D shape anatomical entity", + "abnormal renal system morphology", + "abnormal chromatin organization", + "chromatin organization", + "negative regulation of cellular biosynthetic process", + "pectoral appendage", + "regulation of gene expression", + "cellular component organization" ], "has_phenotype_count": 20, "highlight": null, @@ -11386,16 +11386,16 @@ "namespace": "MONDO", "has_phenotype": [ "HP:0002749", - "HP:0034359", + "HP:0001942", + "HP:0003648", "HP:0001324", "HP:0003155", - "HP:0001942", "HP:0002148", "HP:0000124", "HP:0003109", - "HP:0003648", "HP:0002900", "HP:0002748", + "HP:0034359", "HP:0003076", "HP:0003355", "HP:0004322", @@ -11404,16 +11404,16 @@ ], "has_phenotype_label": [ "Osteomalacia", - "Impaired renal tubular reabsorption of phosphate", + "Metabolic acidosis", + "Lacticaciduria", "Muscle weakness", "Elevated circulating alkaline phosphatase concentration", - "Metabolic acidosis", "Hypophosphatemia", "Renal tubular dysfunction", "Hyperphosphaturia", - "Lacticaciduria", "Hypokalemia", "Rickets", + "Impaired renal tubular reabsorption of phosphate", "Glycosuria", "Aminoaciduria", "Short stature", @@ -11421,707 +11421,707 @@ "Renal insufficiency" ], "has_phenotype_closure": [ - "UPHENO:0086132", - "UPHENO:0086128", - "UPHENO:0051801", - "HP:0003126", - "CHEBI:33256", - "CHEBI:37622", "UPHENO:0068565", - "CHEBI:16670", - "HP:0000093", + "CHEBI:37622", "CHEBI:15841", + "CHEBI:32988", "CHEBI:16541", - "HP:0000002", - "UPHENO:0015280", + "UPHENO:0068247", + "CHEBI:16670", + "GO:0040007", + "UPHENO:0081424", + "UPHENO:0086132", "UPHENO:0075195", - "UPHENO:0080351", + "UPHENO:0049874", "UPHENO:0020584", - "HP:0004322", - "HP:0001510", - "UPHENO:0081423", - "CHEBI:64709", - "CHEBI:25367", - "HP:0040156", + "UPHENO:0069254", + "UPHENO:0000541", + "UPHENO:0075159", + "UPHENO:0068169", "CHEBI:35605", - "CHEBI:36586", + "UPHENO:0068495", "CHEBI:33575", - "UPHENO:0068040", - "CHEBI:33709", - "UPHENO:0051930", - "UPHENO:0082542", - "UPHENO:0012541", - "UPHENO:0049874", - "UPHENO:0000543", - "UPHENO:0068491", "CHEBI:24651", - "CHEBI:72695", - "CHEBI:24833", + "UPHENO:0046286", "HP:0003355", + "CHEBI:36587", + "UPHENO:0068091", + "HP:0031980", "UPHENO:0051670", + "CHEBI:33709", + "UPHENO:0068040", + "CHEBI:33608", + "UPHENO:0068144", "UPHENO:0068538", - "CHEBI:18133", - "CHEBI:15693", - "UPHENO:0052116", - "CHEBI:33917", - "UPHENO:0051635", - "UPHENO:0078554", - "CHEBI:35381", - "CHEBI:36962", - "CHEBI:25806", - "UPHENO:0080659", - "HP:6000531", + "UPHENO:0080658", + "UPHENO:0000543", + "HP:0003076", + "HP:0000002", "HP:0033354", "UPHENO:0068054", - "CHEBI:33521", - "CHEBI:36914", - "CHEBI:33504", - "CHEBI:36916", - "CHEBI:29103", - "UPHENO:0000541", - "CHEBI:33674", - "HP:0020129", - "UPHENO:0081548", + "CHEBI:36962", + "CHEBI:25806", "CHEBI:17234", - "UPHENO:0076286", - "UPHENO:0051958", - "UPHENO:0051898", - "UPHENO:0051645", - "UPHENO:0034199", - "HP:0011042", - "GO:0055080", - "HP:0010929", - "CHEBI:33250", - "CHEBI:26216", - "HP:0002748", - "CHEBI:36915", - "CHEBI:60242", - "CHEBI:25213", - "CHEBI:25414", - "UPHENO:0068511", - "UPHENO:0051640", - "CHEBI:60911", - "UPHENO:0051739", - "UPHENO:0081544", - "HP:0003109", + "CHEBI:35381", + "CHEBI:18133", + "HP:0034359", + "UPHENO:0051191", + "CHEBI:33917", + "HP:0011038", + "GO:0003008", + "GO:0003014", + "UPHENO:0051280", + "HP:0011036", + "CHEBI:33504", + "CHEBI:33694", + "UPHENO:0077821", + "CHEBI:36357", + "PR:000018263", + "CHEBI:33675", + "HP:0004379", + "HP:0000079", + "CHEBI:35352", + "HP:0100529", + "UPHENO:0068971", + "CHEBI:33695", + "GO:0001503", + "CHEBI:50860", + "HP:0012379", + "BFO:0000020", + "UPHENO:0012541", + "UPHENO:0068491", + "CHEBI:36360", + "PR:000064867", + "UPHENO:0046362", + "UPHENO:0081777", + "UBERON:0009773", + "HP:6000531", "UPHENO:0068352", - "UPHENO:0051900", - "CHEBI:33304", - "HP:0012599", - "UBERON:0000174", + "CHEBI:23367", + "UPHENO:0076289", + "HP:0001324", + "UPHENO:0002442", + "PATO:0000001", + "UPHENO:0081423", + "UPHENO:0002642", + "UPHENO:0051801", + "CHEBI:60911", + "HP:0000001", + "GO:0070293", + "UBERON:0004111", + "UPHENO:0068511", + "BFO:0000002", + "CHEBI:60004", + "CHEBI:33302", + "UBERON:8450002", + "UPHENO:0082542", + "HP:0000119", + "UPHENO:0002964", "UBERON:0001088", - "UPHENO:0068292", - "CHEBI:33559", - "CHEBI:24870", - "CHEBI:33259", - "UPHENO:0034217", - "HP:0031980", - "UPHENO:0068110", - "HP:0100529", - "CHEBI:33238", - "CHEBI:24867", - "CHEBI:37577", - "UPHENO:0004459", - "GO:0040007", - "UPHENO:0050080", - "UPHENO:0051960", - "CHEBI:26079", - "HP:0002148", - "UPHENO:0034351", - "CHEBI:33608", - "UBERON:0010000", - "GO:0048878", - "UPHENO:0046348", - "UBERON:0000179", - "PR:000000001", - "UBERON:0002390", - "CHEBI:33241", - "UPHENO:0046286", - "UBERON:0001630", - "HP:0032180", + "BFO:0000004", "UPHENO:0080352", + "UBERON:0000179", + "UPHENO:0046284", + "HP:0012072", + "HP:0032943", + "CHEBI:36963", "UPHENO:0051186", - "CHEBI:28358", - "CHEBI:24431", - "UPHENO:0082543", + "UPHENO:0080555", + "UPHENO:0024906", + "HP:0001939", + "UPHENO:0001002", + "CHEBI:60242", + "BFO:0000003", + "CHEBI:59999", + "PR:000050567", + "UPHENO:0082835", + "CHEBI:64709", "UPHENO:0079536", - "UPHENO:0068064", - "UPHENO:0079822", - "UPHENO:0082539", - "UBERON:0000479", - "UBERON:0004120", - "HP:0012337", + "UBERON:0003914", "HP:0001942", - "UBERON:0000468", - "UPHENO:0081550", - "HP:0004360", - "UPHENO:0002536", + "UBERON:0011216", "UBERON:0001434", - "UPHENO:0051763", - "UPHENO:0068169", - "UBERON:0000178", - "UPHENO:0082538", + "UBERON:0005090", + "UBERON:0000468", + "UPHENO:0034253", + "HP:0000093", "GO:0055062", - "CHEBI:36357", - "UBERON:0000025", - "HP:0001871", - "HP:0010930", - "CHEBI:33285", - "HP:0000924", - "CHEBI:35352", - "UPHENO:0069254", - "CHEBI:36080", - "CHEBI:33839", - "UBERON:0011216", - "HP:0034684", - "CHEBI:33675", - "UPHENO:0068058", - "HP:0004379", - "UPHENO:0068091", - "UPHENO:0081546", - "UBERON:0004211", - "UPHENO:0046362", - "CHEBI:50047", - "CHEBI:78616", - "UPHENO:0034438", - "CHEBI:50860", - "CHEBI:26082", - "BFO:0000002", - "GO:0001503", + "UBERON:0002417", + "CHEBI:22314", "GO:0008152", - "HP:0003155", - "UPHENO:0076289", - "UPHENO:0048707", - "CHEBI:36360", - "CHEBI:33582", - "UPHENO:0051280", - "HP:0000001", - "UPHENO:0075902", - "PR:000003968", - "UPHENO:0068971", - "UPHENO:0034391", - "CHEBI:51143", - "HP:0001992", - "CHEBI:33694", - "UBERON:0002204", - "CHEBI:33695", - "UBERON:0005177", - "CHEBI:33579", - "UPHENO:0051668", - "HP:0003076", + "UPHENO:0086128", + "UPHENO:0049587", + "UPHENO:0051635", "UBERON:0000383", - "UPHENO:0002320", - "HP:0001324", - "UBERON:0004765", - "PR:000018263", - "UPHENO:0002816", - "HP:0004348", - "UPHENO:0075666", - "HP:0003110", - "HP:0003330", - "UPHENO:0046284", - "HP:0011036", + "UPHENO:0001005", + "CHEBI:15693", + "UPHENO:0081544", + "HP:0020129", + "UPHENO:0046348", + "UPHENO:0066927", + "HP:0000083", "HP:0011804", - "UPHENO:0068089", - "UBERON:0015212", - "HP:0003011", - "UPHENO:0081547", - "PR:000050567", - "UBERON:0009569", - "UBERON:0011676", + "GO:0032501", + "GO:0050801", "UBERON:0001015", - "UBERON:0000463", - "CHEBI:33296", - "UBERON:0004111", + "CHEBI:37247", + "UPHENO:0051640", + "UPHENO:0081546", + "CHEBI:51143", + "HP:0004360", + "UPHENO:0034391", + "HP:0000118", + "UPHENO:0068094", + "UBERON:0000178", + "UPHENO:0002536", + "UPHENO:0076692", + "HP:0011849", + "UPHENO:0048707", + "UBERON:0001231", + "UPHENO:0068110", + "UBERON:0003103", + "UPHENO:0002320", + "UPHENO:0084653", + "UPHENO:0001001", + "UBERON:0000062", + "UPHENO:0084654", + "UPHENO:0034351", + "UPHENO:0068292", + "UBERON:0001474", + "UPHENO:0082875", + "UBERON:0002100", + "CHEBI:28358", + "UPHENO:0076703", + "UPHENO:0015280", + "UPHENO:0081548", + "UBERON:0002204", + "UPHENO:0082539", + "CHEBI:33582", + "UBERON:0000465", + "UPHENO:0082538", + "UBERON:0000489", + "BFO:0000001", + "CHEBI:24833", + "UBERON:0001008", + "UPHENO:0082834", + "BFO:0000040", + "HP:0004349", "GO:0042592", - "HP:0000079", - "UPHENO:0051937", + "HP:0004348", + "HP:0002749", + "CHEBI:23906", + "HP:0003011", + "HP:0012337", + "UBERON:0006314", + "CHEBI:36080", + "CHEBI:50047", + "UPHENO:0068089", + "BFO:0000015", + "UBERON:0000174", + "HP:0000924", + "HP:0003330", + "UPHENO:0078554", + "UPHENO:0002332", + "CHEBI:33259", + "HP:0011277", + "UPHENO:0046283", + "UBERON:0001630", + "HP:0033127", + "CHEBI:33285", + "UPHENO:0001003", + "HP:0003155", "UPHENO:0080556", "HP:0002900", - "UBERON:0001231", - "UBERON:8450002", - "UPHENO:0049587", - "UBERON:0001008", - "HP:0000083", - "UPHENO:0068495", - "HP:0000077", - "HP:0000124", - "CHEBI:22314", - "UPHENO:0082835", - "UBERON:0003103", - "CHEBI:24835", - "UPHENO:0002411", - "HP:0012211", "UBERON:0000467", - "HP:0011277", - "CHEBI:60004", - "UPHENO:0049628", - "CHEBI:23367", - "UBERON:0003914", - "UBERON:0000483", - "GO:0003014", - "GO:0003008", - "HP:0010935", - "UBERON:0004819", - "UPHENO:0082834", - "UPHENO:0002803", - "HP:0001941", - "UBERON:0005090", + "UBERON:0004765", + "UPHENO:0081550", + "UPHENO:0080659", + "UPHENO:0051668", + "CHEBI:33579", + "HP:0003110", + "CHEBI:36359", "GO:0008150", - "UBERON:0007684", + "UPHENO:0051763", + "HP:0011842", + "UPHENO:0075696", + "HP:0001871", + "UBERON:0001062", + "CHEBI:72695", + "UPHENO:0068064", + "CHEBI:26079", + "CHEBI:33839", + "UPHENO:0082943", + "UPHENO:0075666", + "UPHENO:0002411", + "UBERON:0004120", + "HP:0002148", + "CHEBI:33304", + "HP:0010930", + "UBERON:0013702", + "UPHENO:0050080", + "GO:0098771", + "UPHENO:0004459", + "UPHENO:0080351", + "UPHENO:0076286", + "CHEBI:33250", + "UBERON:0002113", + "HP:0032180", + "CHEBI:25367", + "HP:0011042", + "CHEBI:26082", + "UPHENO:0049904", "UPHENO:0066739", - "BFO:0000020", - "UPHENO:0081777", - "UBERON:0004122", - "UBERON:0000916", - "UBERON:0009773", + "UPHENO:0075902", + "GO:0048878", + "UPHENO:0051937", + "UBERON:0002193", + "UPHENO:0051960", + "CHEBI:24870", "UBERON:0000064", - "UPHENO:0068144", - "CHEBI:16646", + "CHEBI:33241", + "HP:0001507", + "CHEBI:37577", + "HP:0012591", + "HP:0001510", + "HP:0003109", + "HP:0034684", + "CHEBI:24867", + "CHEBI:33256", + "UBERON:0000025", + "UPHENO:0051739", "UPHENO:0079824", - "CHEBI:33302", - "UBERON:0013702", - "CHEBI:33318", - "UBERON:0006314", - "UPHENO:0066943", - "CHEBI:37247", - "UPHENO:0080555", - "UPHENO:0049904", - "CHEBI:26217", - "UBERON:0000489", + "UPHENO:0051900", + "UPHENO:0049628", + "CHEBI:33238", + "UPHENO:0052008", + "HP:0040156", + "UBERON:0000463", "CHEBI:26020", - "UPHENO:0049709", - "UPHENO:0051847", - "BFO:0000040", - "UPHENO:0001003", + "UPHENO:0034217", + "UBERON:0011676", "UBERON:0001285", - "HP:0034359", - "UPHENO:0024906", - "UBERON:0000465", - "UPHENO:0082943", - "UPHENO:0051191", - "UPHENO:0002642", - "CHEBI:36963", - "UPHENO:0051804", - "GO:0070293", - "HP:0011038", - "UBERON:0000062", - "BFO:0000003", - "HP:0001939", - "UPHENO:0001005", - "UPHENO:0081424", - "HP:0003648", - "UPHENO:0002332", - "UPHENO:0066927", - "HP:0001507", - "GO:0098771", - "HP:0012072", - "CHEBI:36359", - "HP:0003111", - "CHEBI:23906", - "HP:0012379", - "UPHENO:0001002", - "UPHENO:0075696", - "UPHENO:0077821", - "UPHENO:0002964", - "UPHENO:0052008", - "UBERON:0006555", - "CHEBI:32988", - "UBERON:0005173", - "HP:0002749", - "HP:0004349", - "UPHENO:0084653", - "BFO:0000001", - "UPHENO:0068247", - "GO:0050801", - "GO:0032501", - "HP:0012591", - "UBERON:0002100", - "UBERON:0001062", - "HP:0032943", - "HP:0033127", - "HP:0011849", - "UPHENO:0002442", - "CHEBI:59999", - "UBERON:0002193", - "HP:0011842", "UBERON:0013701", - "UPHENO:0075159", - "UPHENO:0076692", - "UPHENO:0068094", - "HP:0000118", - "UPHENO:0082875", + "UBERON:0009569", + "UPHENO:0082543", + "UBERON:0000483", + "CHEBI:24431", + "HP:0003111", + "CHEBI:33318", + "PR:000003968", + "UBERON:0000479", "UPHENO:0051686", - "UBERON:0000061", - "UBERON:0005172", - "CHEBI:36587", - "UPHENO:0084654", - "BFO:0000004", - "UPHENO:0080658", - "HP:0000119", + "CHEBI:36915", "UBERON:0000475", - "UPHENO:0046283", - "UPHENO:0001001", + "HP:0012211", + "UBERON:0015212", + "CHEBI:78616", + "HP:0000077", + "HP:0001992", + "UBERON:0010000", "UPHENO:0051709", - "BFO:0000015", - "PR:000064867", - "UPHENO:0034253", - "PATO:0000001", + "UBERON:0002390", + "UPHENO:0066943", + "UPHENO:0049709", + "HP:0004322", + "CHEBI:26216", + "UBERON:0004211", + "UBERON:0007684", + "UBERON:0004122", + "HP:0010935", + "UBERON:0005172", + "HP:0003126", + "HP:0002748", "UPHENO:0002832", - "UBERON:0002417", - "UPHENO:0076703", + "UPHENO:0002803", + "CHEBI:16646", + "HP:0000124", + "UBERON:0000916", + "UBERON:0005173", + "UPHENO:0051847", + "UBERON:0005177", + "UPHENO:0002816", "UBERON:0011143", - "UBERON:0002113", - "UBERON:0001474" + "UBERON:0004819", + "HP:0012599", + "CHEBI:33296", + "PR:000000001", + "UPHENO:0034199", + "UPHENO:0051898", + "UPHENO:0081547", + "CHEBI:25414", + "UPHENO:0068058", + "CHEBI:33674", + "UPHENO:0051930", + "CHEBI:33559", + "CHEBI:25213", + "CHEBI:26217", + "UPHENO:0051645", + "HP:0010929", + "UPHENO:0051958", + "UPHENO:0052116", + "CHEBI:24835", + "CHEBI:36586", + "CHEBI:33521", + "CHEBI:36914", + "UPHENO:0034438", + "UBERON:0006555", + "GO:0055080", + "UBERON:0000061", + "CHEBI:36916", + "UPHENO:0079822", + "HP:0003648", + "HP:0001941", + "UPHENO:0051804", + "CHEBI:29103" ], "has_phenotype_closure_label": [ - "peptide", - "Abnormal urine protein level", - "increased level of protein polypeptide chain in independent continuant", - "primary amide", - "amide", + "Renal insufficiency", + "non-functional kidney", + "non-functional anatomical entity", + "carboxamide", + "increased level of protein polypeptide chain in urine", "abnormal independent continuant protein polypeptide chain level", - "abnormal growth", + "Low-molecular-weight proteinuria", + "amide", + "increased level of protein polypeptide chain in independent continuant", + "Abnormal urine protein level", + "peptide", + "growth", + "Growth delay", "Abnormality of body height", - "delayed biological_process", + "decreased size of the anatomical entity in the independent continuant", + "Growth abnormality", "delayed growth", - "Abnormal urine carboxylic acid level", - "abnormal independent continuant carboxylic acid level", - "increased level of organic acid in urine", - "Aminoaciduria", - "increased level of nitrogen molecular entity in independent continuant", - "organic molecule", + "abnormal anatomical entity morphology in the independent continuant", + "decreased height of the multicellular organism", + "increased level of carboxylic acid in independent continuant", "carboxylic acid", "molecule", - "oxoacid", - "decreased height of the anatomical entity", - "organic oxo compound", - "abnormal independent continuant nitrogen molecular entity level", - "carbon oxoacid", "increased level of amino acid in urine", - "polypeptide", - "aldose", - "decreased size of the anatomical entity in the independent continuant", + "hydroxides", + "organic molecule", + "carbonyl compound", + "abnormal size of anatomical entity", + "abnormal amino acid level", + "Organic aciduria", + "abnormal urine amino acid level", + "increased level of organic acid in urine", + "increased level of nitrogen molecular entity in independent continuant", "amino acid", - "abnormal independent continuant carbohydrate level", - "increased level of monosaccharide in independent continuant", - "glucose", - "Glycosuria", - "abnormal independent continuant glucose level", + "Elevated urinary carboxylic acid", "increased level of organic acid in independent continuant", - "increased level of glucose in urine", - "oxygen molecular entity", - "increased level of monosaccharide in urine", "increased level of glucose in independent continuant", - "Abnormal urinary organic compound level", - "abnormal urine glucose level", - "abnormal independent continuant potassium atom level", - "decreased size of the multicellular organism", - "alkali metal molecular entity", - "Short stature", - "abnormal metabolite independent continuant level", - "abnormal independent continuant potassium(1+) level", "Abnormal urine metabolite level", - "atom", - "abnormal blood potassium atom level", - "potassium molecular entity", - "monoatomic cation homeostasis", + "carbohydrates and carbohydrate derivatives", + "increased level of monosaccharide in urine", + "oxygen molecular entity", "organooxygen compound", - "decreased level of potassium atom in blood", - "potassium atom", - "inorganic cation", - "decreased level of potassium atom in independent continuant", + "Abnormal urinary organic compound level", + "abnormal independent continuant glucose level", + "aldohexose", "increased level of organic molecular entity in independent continuant", - "abnormal potassium atom level", - "hydrogen molecular entity", - "Abnormal blood cation concentration", - "abnormal role blood level", - "inorganic ion", - "Rickets", - "monovalent inorganic cation", - "metal cation", - "monoatomic monocation", - "s-block element atom", + "glucose", + "aldose", + "hexose", + "abnormal urine glucose level", + "increased level of monosaccharide in independent continuant", + "abnormal independent continuant carbohydrate level", + "monosaccharide", + "abnormal renal system process", + "renal absorption", + "abnormal renal absorption", + "abnormal independent continuant amino acid level", + "renal system process", + "organic molecular entity", + "protein-containing molecular entity", + "Decreased anatomical entity mass density", + "decreased level of chemical entity in independent continuant", + "Abnormal blood ion concentration", + "increased level of alkaline phosphatase, tissue-nonspecific isozyme", "main group element atom", - "Elevated urinary carboxylic acid", - "Abnormal blood potassium concentration", - "metal atom", - "decreased height of the multicellular organism", - "inorganic molecular entity", - "Low-molecular-weight proteinuria", - "potassium(1+)", - "Abnormal blood monovalent inorganic cation concentration", - "decreased role independent continuant level", - "abnormal monoatomic cation homeostasis", - "Lacticaciduria", - "aldohexose", - "cation", + "pnictogen molecular entity", + "abnormality of muscle organ physiology", + "increased level of protein", + "increased level of glucose in urine", + "body proper", + "decreased muscle organ strength", + "polypeptide", + "Abnormality of bone mineral density", + "anatomical structure", + "anatomical conduit", + "abdominal segment of trunk", + "musculature of body", + "monoatomic cation", + "Abnormality of the upper urinary tract", "chemical substance", - "racemate", - "Aciduria", - "mixture", + "abnormal independent continuant potassium atom level", + "increased independent continuant base level", + "muscle organ", + "anatomical entity dysfunction in independent continuant", + "rac-lactic acid", "increased level of rac-lactic acid in urine", - "increased level of rac-lactic acid in independent continuant", - "Abnormality of urine homeostasis", - "Renal insufficiency", - "abnormal blood potassium(1+) level", "increased level of chemical entity in urine", + "increased level of chemical entity in bodily fluid", + "decreased anatomical entity strength", + "mixture", + "epithelial tube", + "organic oxo compound", "excreta", - "Abnormal urine phosphate concentration", - "abnormal urine chemical entity level", - "Abnormal urinary electrolyte concentration", - "carboxamide", - "increased level of phosphate in independent continuant", - "increased level of phosphate in urine", - "haemolymphatic fluid", - "hematopoietic system", - "blood", - "Hypophosphatemia", - "carbohydrate", - "abnormal role urine level", + "abnormal acid bodily fluid level", + "monoatomic monocation", + "Abnormality of the urinary system", + "Aciduria", + "abnormal blood potassium atom level", + "abnormality of anatomical entity height", + "metal atom", + "increased level of rac-lactic acid in independent continuant", + "skeletal element", + "cavitated compound organ", + "delayed biological_process", + "oxoacid", + "Osteomalacia", + "chemical entity", + "increased independent continuant acid level", + "Abnormality of alkaline phosphatase level", + "increased independent continuant role level", + "increased bodily fluid acid level", + "abnormal blood monoatomic ion level", + "decreased level of potassium atom in blood", + "Metabolic acidosis", "homeostatic process", - "protein polypeptide chain", - "Abnormal blood ion concentration", - "increased independent continuant acid level", - "abnormal blood phosphate level", - "abnormal blood chemical entity level", - "alkali metal atom", - "abnormal homeostatic process", - "Proteinuria", - "phosphorus molecular entity", - "decreased role blood level", - "phosphate ion homeostasis", - "alkali metal cation", - "decreased level of phosphate in blood", + "protein", + "phenotype by ontology source", "decreased level of chemical entity in blood", - "increased level of protein polypeptide chain in urine", - "abnormality of multicellular organism height", - "anatomical system", - "abnormal independent continuant chemical entity level", - "abnormal blood monoatomic ion level", - "increased level of carboxylic acid in independent continuant", - "mesoderm-derived structure", - "increased level of chemical entity in bodily fluid", - "phosphorus oxoacids and derivatives", - "increased independent continuant role level", - "monoatomic entity", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "abnormal independent continuant nitrogen molecular entity level", + "Lacticaciduria", + "alkali metal molecular entity", + "entity", + "Phenotypic abnormality", + "Hyperphosphaturia", + "abnormal anatomical entity mass density", + "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", "epithelium", - "phosphorus oxoacid derivative", - "ion", - "abdomen", - "abnormal phosphate ion homeostasis", - "anatomical structure", - "Abnormality of the urinary system", - "Abnormality of blood and blood-forming tissues", - "phosphoric acid derivative", - "material entity", - "inorganic ion homeostasis", - "monosaccharide", - "Abnormal blood phosphate concentration", - "bodily fluid", - "abnormal multicellular organism chemical entity level", - "abnormal chemical homeostasis", - "abnormal acid independent continuant level", + "abnormality of anatomical entity physiology", + "abnormally decreased functionality of the nephron tubule", + "Abnormal urine pH", + "increased level of chemical entity in independent continuant", + "Abnormal bone structure", + "anatomical system", + "potassium(1+)", + "All", + "abnormal growth", + "independent continuant", + "abnormal anatomical entity", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "abnormal urine chemical entity level", + "monoatomic ion homeostasis", + "decreased height of the anatomical entity", + "abnormal metabolite independent continuant level", + "abnormal size of multicellular organism", + "bone element", + "Abnormal renal tubular resorption", + "anatomical entity", + "multicellular anatomical structure", + "heteroorganic entity", + "abnormal bone element mass density", + "decreased role independent continuant level", + "Muscle weakness", + "organ part", + "abnormal musculature", + "abnormal skeletal system", + "increased level of phosphate in independent continuant", + "abnormal potassium atom level", + "abnormal renal system", + "process", "Abnormality of acid-base homeostasis", - "abnormal role independent continuant level", - "information biomacromolecule", + "tube", + "potassium molecular entity", + "genitourinary system", + "atom", + "carbohydrate", "increased bodily fluid role level", - "Abnormality of metabolism/homeostasis", + "biological_process", + "renal tubule", "carbon group molecular entity", - "increased level of amino acid in independent continuant", + "Abnormality of renal excretion", + "abnormal independent continuant chemical entity level", + "protein polypeptide chain", + "continuant", + "nephron", + "amino acid chain", + "tissue", + "Abnormal circulating enzyme concentration or activity", + "organism subdivision", + "urine", + "material entity", + "organic amino compound", + "Acidosis", "increased level of chemical entity", - "increased level of protein", - "protein-containing molecular entity", - "molecular entity", - "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", - "abnormal anatomical entity morphology in the independent continuant", - "organochalcogen compound", + "inorganic cation", + "Glycosuria", + "information biomacromolecule", + "abdominal segment element", + "Abnormal bone ossification", + "decreased size of the anatomical entity", + "blood", + "racemate", + "phosphate ion homeostasis", + "inorganic ion", + "abnormal genitourinary system", + "Aminoaciduria", + "organ system subdivision", + "primary amide", + "elemental molecular entity", "nitrogen molecular entity", - "material anatomical entity", - "Abnormal enzyme concentration or activity", - "Growth abnormality", - "increased level of alkaline phosphatase, tissue-nonspecific isozyme", + "renal system", + "hydrogen molecular entity", + "nephron tubule", + "phenotype", + "Abnormality of the genitourinary system", + "Reduced bone mineral density", + "inorganic ion homeostasis", + "Impaired renal tubular reabsorption of phosphate", + "multicellular organism", + "hematopoietic system", + "abnormal monoatomic cation homeostasis", "alkaline phosphatase, tissue-nonspecific isozyme", - "decreased level of phosphate in independent continuant", - "biomacromolecule", - "protein", - "heteroorganic entity", - "organonitrogen compound", + "nephron epithelium", "polyatomic entity", + "increased level of amino acid in independent continuant", + "Abnormality of the musculature", "increased level of carboxylic acid in urine", - "urine", - "organism substance", - "monoatomic ion homeostasis", - "Elevated circulating alkaline phosphatase concentration", - "decreased anatomical entity strength", - "Muscle weakness", - "abnormal monoatomic ion homeostasis", + "Abnormal urine phosphate concentration", + "abnormal role urine level", + "abnormal chemical entity level", + "organochalcogen compound", + "Abnormal muscle physiology", + "Abnormal homeostasis", + "Abnormal enzyme concentration or activity", + "p-block molecular entity", + "biomacromolecule", + "Abnormality of urine homeostasis", + "upper urinary tract", + "occurrent", + "organ", + "skeletal system", + "Abnormality of the urinary system physiology", + "abnormal blood chemical entity level", + "macromolecule", + "material anatomical entity", "muscle structure", - "Hypokalemia", - "hemolymphoid system", - "Abnormality of the musculature", + "metabolic process", + "bodily fluid", + "abnormal urine phosphate level", + "Abnormality of metabolism/homeostasis", + "abnormal monoatomic ion homeostasis", + "abnormal role blood level", + "organism substance", "abnormality of kidney physiology", - "Abnormal muscle physiology", - "musculature", - "abnormal amino acid level", - "carbonyl compound", - "multicellular anatomical structure", - "trunk", - "Acidosis", - "nephron tubule", - "renal tubule", + "Elevated circulating alkaline phosphatase concentration", + "main group molecular entity", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "chemical homeostasis", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "decreased level of potassium atom in independent continuant", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", "Abnormality of the skeletal system", - "uriniferous tubule", - "abnormal independent continuant monoatomic ion level", - "abnormal acid bodily fluid level", - "nephron epithelium", - "anatomical conduit", - "organic molecular entity", - "nephron", - "epithelial tube", - "Abnormal renal physiology", - "Abnormality of the kidney", - "chalcogen molecular entity", - "cavitated compound organ", - "skeletal system", - "system process", - "increased level of chemical entity in independent continuant", - "abnormal phenotype by ontology source", - "organic acid", - "heteroatomic molecular entity", - "Abnormality of alkaline phosphatase level", - "organ part", - "abnormal kidney", - "oxoacid derivative", - "Abnormal circulating enzyme concentration or activity", - "Abnormality of bone mineral density", - "abdominal segment of trunk", - "elemental molecular entity", + "abnormal independent continuant phosphate level", + "abnormal chemical homeostasis", + "abnormal protein level", + "Abnormality of the musculoskeletal system", + "abnormal phosphate ion homeostasis", + "abdomen element", + "haemolymphatic fluid", + "ion", + "abnormal homeostatic process", + "multicellular organismal process", + "abnormal blood phosphate level", + "Hypophosphatemia", + "monoatomic ion", + "abnormal role bodily fluid level", + "abnormal biological_process", + "potassium atom", + "Proteinuria", + "abnormal skeletal system morphology", + "protein-containing material entity", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "abnormality of renal system physiology", + "quality", + "phosphoric acid derivative", + "trunk", + "phosphorus molecular entity", + "heteroatomic molecular entity", + "abnormal acid independent continuant level", + "monoatomic entity", + "abnormal phenotype by ontology source", "subdivision of trunk", - "elemental potassium", + "organic acid", + "ossification", + "Abnormal circulating metabolite concentration", "main body axis", - "abdomen element", - "Decreased anatomical entity mass density", - "abnormal musculature", - "rac-lactic acid", + "excretory system", + "abnormal independent continuant monoatomic ion level", + "musculoskeletal system", + "abnormal upper urinary tract", + "uriniferous tubule", "subdivision of organism along main body axis", - "s-block molecular entity", - "genitourinary system", - "abnormal independent continuant phosphate level", - "protein-containing material entity", - "macromolecule", - "abnormality of anatomical entity physiology", + "phosphorus oxoacids and derivatives", + "Abnormal blood phosphate concentration", "kidney epithelium", + "compound organ", + "abdomen", + "Renal tubular dysfunction", + "abnormal kidney", + "trunk region element", + "Abnormality of the kidney", + "lateral structure", + "chalcogen molecular entity", + "Abnormal renal physiology", + "Short stature", + "inorganic molecular entity", "abnormally decreased functionality of the anatomical entity", - "Organic aciduria", - "amino acid chain", - "monoatomic cation", - "renal absorption", - "increased independent continuant base level", - "Abnormal homeostasis", - "upper urinary tract", "excretory tube", - "main group molecular entity", - "abnormal genitourinary system", - "Phenotypic abnormality", - "metabolic process", - "Renal tubular dysfunction", - "growth", - "hydroxides", - "Abnormality of the upper urinary tract", - "carbohydrates and carbohydrate derivatives", - "muscle organ", - "abnormal anatomical entity mass density", - "All", "kidney", - "increased bodily fluid acid level", - "abnormality of renal system physiology", - "Hyperphosphaturia", - "compound organ", - "lateral structure", - "Abnormality of renal excretion", - "non-functional anatomical entity", - "abnormality of muscle organ physiology", - "abnormal independent continuant amino acid level", - "phenotype", - "abnormal renal system", - "renal system process", - "chemical entity", - "Abnormality of the musculoskeletal system", - "abnormal size of anatomical entity", - "Impaired renal tubular reabsorption of phosphate", - "tissue", + "oxoacid derivative", + "increased level of phosphate in urine", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "musculature", + "decreased role blood level", + "abnormal role independent continuant level", + "metal cation", + "monovalent inorganic cation", + "s-block molecular entity", + "s-block element atom", + "Abnormal blood cation concentration", + "organonitrogen compound", + "abnormal independent continuant potassium(1+) level", + "abnormal blood potassium(1+) level", + "carbon oxoacid", + "Abnormal blood potassium concentration", + "abnormal multicellular organism chemical entity level", "phosphate", - "hexose", - "Abnormal bone structure", - "abdominal segment element", - "pnictogen molecular entity", - "multicellular organismal process", - "skeletal element", - "entity", - "Osteomalacia", - "decreased muscle organ strength", - "abnormal renal absorption", - "Growth delay", - "musculature of body", - "occurrent", - "abnormal skeletal system morphology", - "abnormal role bodily fluid level", - "Abnormality of the genitourinary system", - "quality", - "process", - "body proper", - "abnormal urine amino acid level", - "Abnormal urine pH", - "bone element", - "continuant", - "Decreased bone element mass density", - "abnormal anatomical entity morphology", - "abnormal biological_process", - "ossification", - "abnormal upper urinary tract", - "specifically dependent continuant", - "abnormal bone element mass density", - "independent continuant", - "multicellular organism", - "Abnormal bone ossification", - "monoatomic ion", - "decreased level of chemical entity in independent continuant", - "anatomical entity", - "Abnormal skeletal morphology", - "Abnormality of the urinary system physiology", - "abnormal renal system process", + "alkali metal cation", + "elemental potassium", + "Hypokalemia", + "Abnormal blood monovalent inorganic cation concentration", + "monoatomic cation homeostasis", + "cation", + "alkali metal atom", + "hemolymphoid system", + "Rickets", + "abnormality of multicellular organism height", + "Abnormal urine carboxylic acid level", "decreased level of chemical entity", - "trunk region element", - "decreased size of the anatomical entity", - "musculoskeletal system", - "Metabolic acidosis", - "non-functional kidney", - "abnormally decreased functionality of the nephron tubule", - "biological_process", - "organic amino compound", - "abnormal chemical entity level", - "Reduced bone mineral density", - "Abnormal circulating metabolite concentration", - "abnormality of anatomical entity height", - "excretory system", - "abnormal size of multicellular organism", - "renal system", - "abnormal skeletal system", - "phenotype by ontology source", - "abnormal protein level", - "Abnormal renal tubular resorption", - "chemical homeostasis", - "abnormal anatomical entity", - "abnormal urine phosphate level", - "abnormal hematopoietic system", - "p-block molecular entity", - "anatomical entity dysfunction in independent continuant", - "organism subdivision", - "organ", - "organ system subdivision", "abnormal phosphate level", - "tube" + "system process" ], "has_phenotype_count": 16, "highlight": null, @@ -12176,681 +12176,681 @@ "Short stature" ], "has_phenotype_closure": [ - "HP:0001507", "GO:0040007", - "UPHENO:0000541", - "HP:0004322", + "UPHENO:0081424", + "UPHENO:0000543", + "UPHENO:0049874", + "HP:0001507", + "UPHENO:0012541", + "HP:0000002", "HP:0001510", - "UPHENO:0081423", - "UPHENO:0080352", - "UPHENO:0088162", - "UPHENO:0088170", + "HP:0001877", + "CL:0000329", "HP:0012130", + "UPHENO:0088162", "CL:0000764", - "CL:0000232", - "GO:0010468", - "GO:0006325", - "GO:0043170", - "GO:0046483", - "GO:0034641", - "GO:0016043", - "HP:0040012", - "UPHENO:0049990", - "UPHENO:0049873", - "GO:0031049", - "GO:0009987", - "UPHENO:0050021", - "UPHENO:0049700", - "GO:0010558", - "HP:0003221", - "GO:0044237", - "GO:0071840", - "UPHENO:0050845", - "HP:0011017", - "UPHENO:0078606", - "UPHENO:0050121", - "GO:0010556", - "GO:0031326", - "CL:0000329", - "GO:0010605", - "GO:0006259", + "GO:0009890", + "GO:0031324", "GO:0071824", - "GO:0060255", - "GO:0009892", - "GO:0048523", - "GO:0050789", - "GO:0006807", - "GO:0044238", + "UPHENO:0050021", "GO:0010629", - "HP:0000002", - "GO:0009889", - "GO:0005623", - "CHEBI:36357", - "UPHENO:0049748", - "UPHENO:0051936", - "UPHENO:0012541", - "UPHENO:0049874", - "UPHENO:0000543", - "HP:0004364", - "CHEBI:32988", - "UPHENO:0051668", - "GO:0048519", - "UPHENO:0077813", - "CHEBI:33675", - "UPHENO:0076289", - "HP:0003220", - "CHEBI:33256", - "CHEBI:50860", - "UPHENO:0076286", - "CHEBI:16670", - "UPHENO:0077826", - "UPHENO:0081547", - "HP:0430071", - "UBERON:0006314", - "CHEBI:36963", - "UPHENO:0051804", - "UPHENO:0051612", - "CHEBI:36962", - "CHEBI:25806", - "UPHENO:0068971", + "GO:0031049", + "GO:0060255", + "GO:0009889", + "GO:0048523", + "GO:0043933", "UPHENO:0050116", - "CHEBI:51143", - "CHEBI:33582", - "HP:0045056", - "UPHENO:0046284", - "PR:000003809", - "CHEBI:33694", - "CHEBI:15841", - "HP:0006254", - "HP:0033405", - "HP:0032180", - "UPHENO:0046378", - "CHEBI:33304", - "CHEBI:33302", - "UBERON:0000463", - "UPHENO:0087339", - "CL:0001035", - "BFO:0000040", - "HP:0005528", - "UBERON:0004120", - "UBERON:0000479", - "UBERON:0002371", - "HP:0033127", - "CL:0002092", - "UPHENO:0086173", - "HP:0001872", - "CL:0000458", - "UPHENO:0086049", - "HP:0011873", - "CL:0000233", - "NCBITaxon:33208", - "UBERON:0001474", - "UPHENO:0069254", - "CHEBI:36080", - "UPHENO:0077822", - "UPHENO:0085070", - "NCBITaxon:1", - "NCBITaxon:131567", + "HP:0003221", + "UPHENO:0049990", + "UPHENO:0050121", + "GO:0005623", + "UPHENO:0049748", + "GO:0010468", + "GO:0010558", + "GO:0031327", + "GO:0006325", "GO:0050794", - "UBERON:0011676", - "UBERON:0000178", - "UBERON:0010314", - "UBERON:0000062", - "UPHENO:0076702", - "UPHENO:0076805", - "GO:0071704", - "CHEBI:16541", - "UPHENO:0085302", - "UPHENO:0075220", - "UBERON:0003129", - "UPHENO:0087907", - "UBERON:0000955", - "UBERON:0004121", - "UBERON:0001890", - "HP:0000152", - "UBERON:0007811", - "HP:0012145", - "UBERON:0013702", - "HP:0009121", + "GO:0019222", + "GO:0048519", + "GO:0006139", + "GO:1901360", + "GO:0043170", + "GO:0046483", + "UPHENO:0050845", + "HP:0003220", + "GO:0071840", + "UPHENO:0078606", + "UPHENO:0050113", + "GO:0031052", "CHEBI:24431", - "UPHENO:0002764", - "CHEBI:23367", - "UPHENO:0011498", - "UBERON:0010912", - "GO:0090304", - "CHEBI:50047", - "UPHENO:0046362", - "UPHENO:0076799", - "HP:0001939", - "CL:0000763", - "HP:0005561", - "HP:0010876", - "UPHENO:0075696", - "CL:0000151", - "CL:0000457", - "UPHENO:0080200", - "UPHENO:0075195", + "UPHENO:0051680", + "HP:0006254", + "UBERON:0010323", + "UPHENO:0086045", + "HP:0000234", + "UPHENO:0088338", + "UPHENO:0087089", + "UPHENO:0087123", "HP:0000252", - "HP:0011875", - "UPHENO:0020888", - "CHEBI:35352", - "HP:0000924", - "HP:0012443", - "HP:0012639", - "UPHENO:0081435", - "GO:0031324", - "HP:0002060", - "HP:0001875", - "UBERON:0011137", - "UPHENO:0085195", - "UBERON:0002090", - "UBERON:0005944", - "GO:0065007", "GO:0031323", "UBERON:0011138", - "UPHENO:0022529", - "UBERON:0034925", - "CHEBI:33579", - "HP:0002011", - "GO:0019222", - "UPHENO:0076703", - "BFO:0000003", - "UBERON:0002616", - "UPHENO:0086176", - "UBERON:0001893", - "NCBITaxon:33154", - "GO:0031327", - "UBERON:0001016", - "HP:0025461", - "UPHENO:0002536", - "UPHENO:0051763", - "UBERON:0001434", - "UPHENO:0088318", - "UBERON:0000481", - "UPHENO:0081566", - "HP:0001877", - "UPHENO:0004523", - "UBERON:0002193", - "HP:0011842", - "PR:000050567", - "BFO:0000015", - "UPHENO:0002948", + "UPHENO:0000541", + "HP:0001874", + "GO:0010605", + "GO:0009892", "UPHENO:0080079", - "UBERON:0000075", - "PATO:0000001", - "UPHENO:0051801", - "UPHENO:0086589", - "CL:0000988", - "UPHENO:0015280", - "HP:0007364", - "UBERON:0010323", - "UPHENO:0085042", - "UPHENO:0085354", - "OBI:0100026", - "UPHENO:0085118", - "UPHENO:0001005", - "UPHENO:0081424", - "HP:0011893", - "NCBITaxon:6072", - "UPHENO:0004459", - "HP:0000240", - "UPHENO:0085356", - "UBERON:0000468", "NCBITaxon:2759", - "HP:0011991", - "CL:0000225", - "CL:0000000", - "HP:0001873", - "UPHENO:0088321", - "UPHENO:0085371", - "GO:0006996", - "UPHENO:0085144", - "HP:0001874", - "UPHENO:0084987", - "UPHENO:0086172", - "CHEBI:33285", - "CL:0002242", - "UPHENO:0080351", - "CL:0000219", - "UPHENO:0087355", - "HP:0032309", - "CL:0000255", - "UPHENO:0086019", - "UBERON:0001017", - "UPHENO:0085189", - "HP:0001903", - "UPHENO:0077426", - "HP:0032251", - "CHEBI:33695", - "UBERON:0002204", - "UBERON:0013701", + "UPHENO:0081566", + "UPHENO:0087907", + "HP:0000152", + "UBERON:0000475", + "HP:0000240", + "UBERON:0001434", + "UPHENO:0076805", + "HP:0025461", + "HP:0002060", + "CL:0000988", + "UPHENO:0069254", + "UPHENO:0075220", + "UPHENO:0051936", "HP:0010987", - "UPHENO:0086045", - "BFO:0000001", + "UPHENO:0081435", + "HP:0000924", + "UPHENO:0081423", + "UBERON:0015203", + "UPHENO:0022529", + "UPHENO:0049587", + "UPHENO:0002844", + "UPHENO:0001002", + "BFO:0000004", + "UPHENO:0080352", + "UBERON:0002405", + "UBERON:0000179", + "UBERON:0011676", + "UBERON:0000061", + "UPHENO:0001003", + "GO:0050789", + "UBERON:0013701", "HP:0001881", - "HP:0000118", - "GO:0009890", + "UPHENO:0085344", "UPHENO:0063722", - "GO:0006725", + "HP:0001872", + "HP:0032180", + "UPHENO:0075159", + "HP:0100547", + "GO:0071704", + "CL:0000219", + "UBERON:0011137", + "BFO:0000020", + "HP:0011991", + "UPHENO:0076675", + "CHEBI:36962", + "UPHENO:0002948", + "CHEBI:33256", + "UBERON:0000062", + "UPHENO:0086019", + "UPHENO:0011498", + "UPHENO:0077822", + "UBERON:0011216", + "UPHENO:0076703", + "UBERON:0002193", + "CL:0001035", + "UPHENO:0085354", "PR:000018263", + "UPHENO:0076799", + "UBERON:0000481", + "UPHENO:0020584", + "UPHENO:0087518", + "OBI:0100026", + "CL:0000766", + "UPHENO:0084928", + "UPHENO:0088318", + "HP:0000001", + "HP:0011875", + "HP:0430071", + "UPHENO:0085042", + "HP:0025354", + "UPHENO:0082943", + "UPHENO:0085371", + "CL:0000457", + "HP:0012443", + "HP:0032251", + "UPHENO:0004459", + "CL:0000233", + "UPHENO:0080351", + "UPHENO:0076286", + "UPHENO:0049700", + "HP:0001911", + "UPHENO:0085405", + "UPHENO:0002764", + "GO:0006807", + "UPHENO:0006910", + "CL:0002242", + "GO:0010556", + "PR:000050567", + "UPHENO:0085076", + "BFO:0000003", + "UPHENO:0085356", + "PATO:0000001", + "UBERON:0034923", + "HP:0040012", + "UPHENO:0086005", + "UBERON:0000467", "UBERON:0004765", - "UPHENO:0075159", - "UPHENO:0076692", - "BFO:0000020", - "UPHENO:0051680", + "UPHENO:0085118", "HP:0002715", + "GO:0090304", + "UPHENO:0015280", + "HP:0045056", + "UPHENO:0004523", + "UPHENO:0086176", + "GO:0065007", "HP:0010974", - "UPHENO:0001002", - "CL:0000775", - "UPHENO:0087123", - "GO:0043933", - "CL:0000738", - "UPHENO:0035025", - "UPHENO:0048707", - "HP:0025354", - "UPHENO:0006910", - "UPHENO:0088338", - "UPHENO:0088166", - "UPHENO:0077821", - "UPHENO:0002964", - "UPHENO:0085405", - "UPHENO:0088176", - "HP:0000234", - "UBERON:0001062", - "UPHENO:0086016", - "GO:0008150", - "UPHENO:0076791", - "HP:0000001", - "UBERON:0002405", + "UPHENO:0085070", + "CHEBI:36963", + "HP:0000118", "UBERON:0000033", - "UPHENO:0020584", - "UPHENO:0049587", - "UPHENO:0086005", - "HP:0000707", - "HP:0001911", + "UBERON:0000178", + "HP:0011842", + "UPHENO:0075696", + "HP:0001871", + "HP:0001875", + "UPHENO:0077426", + "GO:0034641", + "HP:0011893", "PR:000064867", - "CL:0000766", - "UBERON:0011216", - "UPHENO:0002844", - "HP:0100547", - "CL:0000094", "UPHENO:0085984", - "HP:0001871", - "UBERON:0000061", - "CHEBI:33839", - "UPHENO:0084928", - "GO:1901360", - "UBERON:0015203", - "UPHENO:0085330", - "HP:0002977", - "HP:0040195", - "UPHENO:0085344", - "UBERON:0010000", - "UPHENO:0088335", - "UBERON:0000475", - "UBERON:0000153", - "GO:0006139", - "UPHENO:0050113", + "CHEBI:51143", + "CL:0000255", + "UPHENO:0085189", + "UPHENO:0051612", + "CL:0000738", + "CL:0000763", + "CL:0000458", + "UPHENO:0088170", + "GO:0044238", "UPHENO:0001001", - "UBERON:0000467", - "BFO:0000004", - "UBERON:0000073", - "GO:0008152", - "BFO:0000002", - "GO:0031052", + "UPHENO:0086589", + "UPHENO:0076791", "CHEBI:37622", + "HP:0004322", + "UBERON:0003129", + "UPHENO:0086016", + "CL:0000000", + "UPHENO:0088166", + "BFO:0000001", + "UBERON:0004120", + "CL:0000094", + "UPHENO:0046362", + "HP:0007364", + "UBERON:0000468", + "HP:0032309", + "UBERON:0004121", + "UPHENO:0088335", + "GO:0006996", + "HP:0001939", + "NCBITaxon:33208", + "UPHENO:0076692", + "UPHENO:0002536", + "UBERON:0010314", + "UBERON:0001062", + "UPHENO:0088321", + "CL:0000775", + "UBERON:0000075", + "UBERON:0010912", + "CL:0000225", + "UBERON:0010000", + "UBERON:0002390", + "CHEBI:15841", + "GO:0031326", + "UBERON:0002090", + "CHEBI:23367", + "UBERON:0000073", "HP:0000929", - "UPHENO:0085068", - "UBERON:0034923", - "UPHENO:0048751", - "UPHENO:0076675", - "CL:0000081", - "UPHENO:0087518", - "UPHENO:0085076", - "UPHENO:0087089", - "UBERON:0004288", + "UBERON:0000955", + "UPHENO:0001005", + "HP:0040195", + "GO:0016043", + "HP:0002011", + "HP:0012145", + "BFO:0000002", + "HP:0012639", + "UPHENO:0051804", + "UBERON:0002204", + "GO:0044237", + "HP:0002977", + "NCBITaxon:131567", + "NCBITaxon:33154", + "GO:0006725", + "UBERON:0001893", + "UPHENO:0080200", + "UBERON:0001890", + "HP:0033127", + "UPHENO:0076702", + "HP:0001903", + "UBERON:0005944", + "UPHENO:0088176", + "UBERON:0034925", + "BFO:0000040", + "HP:0033405", + "CHEBI:33304", + "UBERON:0013702", + "HP:0001873", + "UBERON:0007811", + "UPHENO:0075195", + "HP:0009121", + "NCBITaxon:6072", + "UPHENO:0002964", + "UPHENO:0086172", + "HP:0000707", + "UPHENO:0086173", + "UPHENO:0086049", + "HP:0011017", "PR:000000001", - "UBERON:0000179", - "UBERON:0002390", - "UPHENO:0082943", - "UBERON:0000465", + "UPHENO:0084987", + "UPHENO:0048707", + "CL:0000232", + "HP:0011873", + "CL:0000151", + "UPHENO:0085302", + "UBERON:0004288", + "UPHENO:0085144", "HP:0020047", - "UPHENO:0001003" + "CL:0002092", + "CHEBI:33579", + "UPHENO:0051668", + "UPHENO:0087355", + "UPHENO:0049873", + "UBERON:0000153", + "HP:0005561", + "UPHENO:0087339", + "UPHENO:0035025", + "UBERON:0000479", + "HP:0005528", + "UBERON:0002371", + "GO:0006259", + "UBERON:0001474", + "UPHENO:0085195", + "UBERON:0001016", + "CHEBI:36357", + "UPHENO:0077821", + "UBERON:0000463", + "NCBITaxon:1", + "UPHENO:0046378", + "CHEBI:33302", + "UBERON:0000465", + "CHEBI:33582", + "CHEBI:16670", + "HP:0004364", + "HP:0010876", + "UPHENO:0085330", + "GO:0008152", + "UBERON:0002616", + "UPHENO:0048751", + "UPHENO:0046284", + "CHEBI:50860", + "CHEBI:16541", + "UPHENO:0068971", + "CHEBI:33695", + "UBERON:0001017", + "UPHENO:0081547", + "CHEBI:25806", + "CL:0000081", + "CHEBI:35352", + "UPHENO:0085068", + "CHEBI:32988", + "GO:0009987", + "CHEBI:33285", + "UPHENO:0051763", + "UPHENO:0020888", + "UPHENO:0077813", + "GO:0008150", + "CHEBI:33675", + "UPHENO:0076289", + "UPHENO:0077826", + "PR:000003809", + "BFO:0000015", + "CHEBI:33694", + "CHEBI:33839", + "UBERON:0006314", + "CHEBI:36080", + "CHEBI:50047", + "UPHENO:0051801" ], "has_phenotype_closure_label": [ - "growth", + "delayed biological_process", + "Short stature", + "decreased height of the anatomical entity", + "Growth delay", "decreased size of the multicellular organism", - "decreased size of the anatomical entity in the independent continuant", + "Abnormality of body height", "abnormality of anatomical entity height", - "Growth delay", + "delayed growth", "decreased height of the multicellular organism", - "delayed biological_process", - "erythrocyte", - "Abnormal erythroid lineage cell morphology", - "oxygen accumulating cell", - "Anemia", + "abnormality of multicellular organism height", + "abnormal erythroid lineage cell morphology", "Abnormal erythrocyte morphology", "abnormal erythrocyte morphology", - "abnormal metabolic process", - "abnormal chromatin organization", - "cellular process", - "Chromosomal breakage induced by crosslinking agents", - "Abnormality of chromosome stability", + "abnormal primary metabolic process", + "negative regulation of biosynthetic process", + "protein-DNA complex organization", + "regulation of cellular biosynthetic process", + "biological regulation", + "abnormal organelle organization", + "programmed DNA elimination", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "nucleic acid metabolic process", + "protein-containing complex organization", + "regulation of biological process", + "primary metabolic process", "obsolete nitrogen compound metabolic process", - "organic substance metabolic process", - "decreased height of the anatomical entity", - "abnormal programmed DNA elimination by chromosome breakage", + "cellular component organization or biogenesis", + "abnormal cellular component organization", "abnormal cellular metabolic process", + "obsolete cell", + "abnormal metabolic process", + "cellular process", + "abnormal cellular process", + "regulation of cellular metabolic process", + "regulation of metabolic process", "regulation of cellular process", "negative regulation of biological process", + "nucleobase-containing compound metabolic process", "organic cyclic compound metabolic process", + "macromolecule metabolic process", + "obsolete cellular aromatic compound metabolic process", + "organelle organization", + "obsolete cellular nitrogen compound metabolic process", "cellular component organization", - "regulation of macromolecule metabolic process", + "Growth abnormality", + "programmed DNA elimination by chromosome breakage", "regulation of gene expression", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "chromatin organization", - "programmed DNA elimination", - "Abnormal cellular physiology", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "Chromosome breakage", - "regulation of cellular biosynthetic process", - "negative regulation of biosynthetic process", - "DNA metabolic process", + "abnormal telencephalon morphology", + "anatomical entity", + "cellular organisms", + "polyatomic entity", + "Abnormality of head or neck", + "craniocervical region", "haemolymphatic fluid", - "blood", - "chalcogen molecular entity", - "pnictogen molecular entity", - "negative regulation of macromolecule metabolic process", - "bodily fluid", - "nucleobase-containing compound metabolic process", - "negative regulation of metabolic process", - "increased level of alpha-fetoprotein", - "peptide", - "amino acid chain", - "Abnormality of metabolism/homeostasis", - "carbon group molecular entity", - "regulation of biological process", - "abnormal blood chemical entity level", - "increased level of chemical entity", - "abnormal blood protein polypeptide chain level", - "increased level of protein", - "Abnormal circulating organic amino compound concentration", - "Abnormal circulating metabolite concentration", - "abnormal independent continuant alpha-fetoprotein level", - "organism substance", - "Abnormal circulating alpha-fetoprotein concentration", - "abnormal blood alpha-fetoprotein level", - "primary amide", - "carboxamide", - "abnormal primary metabolic process", - "organic amino compound", - "abnormal blood nitrogen molecular entity level", + "body proper", + "aplasia or hypoplasia of telencephalon", + "regional part of brain", + "abnormal craniocervical region morphology", + "regional part of nervous system", + "forebrain", + "abnormal anatomical entity morphology in the brain", + "Abnormal skull morphology", + "Abnormal leukocyte morphology", + "Morphological central nervous system abnormality", + "cell", + "neutrophil", + "anterior region of body", + "multi-tissue structure", + "abnormal biological_process", "abnormal role bodily fluid level", - "Abnormal circulating organic compound concentration", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormal skeletal morphology", + "erythroid lineage cell", "obsolete heterocycle metabolic process", - "organic molecular entity", - "protein", + "Abnormal axial skeleton morphology", + "Chromosome breakage", + "abnormal chromatin organization", + "mesoderm-derived structure", "macromolecule", - "main group molecular entity", - "abnormal protein level", - "organooxygen compound", - "amide", - "organonitrogen compound", - "protein polypeptide chain", - "molecular entity", - "disconnected anatomical group", - "protein-containing molecular entity", - "abnormal platelet", - "abnormal independent continuant protein polypeptide chain level", - "abnormality of multicellular organism height", "anatomical system", - "abnormal independent continuant chemical entity level", - "Abnormality of the head", - "skeletal element", - "abnormal head", - "bone cell", - "information biomacromolecule", - "abnormal bone marrow cell morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormality of bone marrow cell morphology", - "abnormal erythroid lineage cell morphology", - "tissue", - "abnormal role blood level", - "Abnormal granulocyte count", - "abnormal hematopoietic system morphology", - "obsolete cellular nitrogen compound metabolic process", - "subdivision of organism along main body axis", + "main body axis", + "immune system", + "myeloid cell", + "organonitrogen compound", + "root", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal nervous system", + "Abnormal neutrophil count", + "brain", + "abnormal anatomical entity morphology in the independent continuant", "abnormal bone marrow morphology", - "Abnormality of body height", - "Abnormal cellular immune system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal platelet morphology", - "polypeptide", - "biogenic amine secreting cell", - "macromolecule metabolic process", - "abnormal hematopoietic cell morphology", + "quality", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal myeloid leukocyte morphology", + "myeloid leukocyte", + "biological_process", + "phenotype by ontology source", "anucleate cell", + "granulocyte", + "abnormal number of anatomical enitites of type myeloid cell", + "musculoskeletal system", + "Abnormal cell morphology", + "phenotype", + "Abnormal cellular phenotype", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal number of anatomical enitites of type anatomical entity", + "nervous system", + "anatomical collection", + "All", + "abnormal skull morphology", + "increased level of protein", + "abnormally decreased number of leukocyte in the independent continuant", + "aplasia or hypoplasia of anatomical entity", + "Abnormal leukocyte count", + "decreased size of the anatomical entity in the independent continuant", "secretory cell", + "central nervous system", + "abnormal blood alpha-fetoprotein level", + "hemolymphoid system", + "material anatomical entity", + "abnormal platelet morphology", + "Abnormal platelet count", + "growth", + "abnormally decreased number of anatomical entity in the independent continuant", "serotonin secreting cell", - "abnormally decreased number of platelet", - "negative regulation of gene expression", - "abnormal forebrain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal nervous system morphology", - "bone element", - "body proper", - "regulation of biosynthetic process", - "abnormal cellular process", + "nucleate cell", + "postcranial axial skeletal system", + "abnormal phenotype by ontology source", + "hematopoietic cell", + "skeletal system", + "motile cell", + "abnormal growth", + "abnormal leukocyte morphology", + "independent continuant", + "abnormal immune system morphology", + "nitrogen molecular entity", + "chromatin organization", + "negative regulation of macromolecule biosynthetic process", + "abnormal number of anatomical enitites of type granulocyte", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "amino acid chain", + "tissue", + "abnormal axial skeleton plus cranial skeleton morphology", + "organic molecular entity", + "primary amide", + "eukaryotic cell", + "skull", + "abnormal head", + "Abnormal myeloid leukocyte morphology", "Abnormality of brain morphology", - "Abnormal cell morphology", - "Abnormal forebrain morphology", - "Aplasia/Hypoplasia of the cerebrum", - "material entity", - "abnormal blood cell morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "organ", - "organism subdivision", - "Abnormal nervous system morphology", - "protein-DNA complex organization", - "abnormal telencephalon morphology", - "quality", - "aplasia or hypoplasia of anatomical entity", - "biological regulation", - "regulation of macromolecule biosynthetic process", - "process", - "cellular organisms", - "multi-tissue structure", - "main body axis", - "delayed growth", - "organism", - "Microcephaly", - "immune system", - "abnormal craniocervical region", - "Abnormal cerebral morphology", - "Abnormality of the musculoskeletal system", - "anterior region of body", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "information biomacromolecule", + "multicellular organism", + "hematopoietic system", "abnormally decreased number of neutrophil", + "Abnormal granulocyte count", + "Abnormality of the skeletal system", + "Abnormal granulocyte morphology", + "anatomical structure", + "regulation of macromolecule biosynthetic process", + "Abnormal circulating metabolite concentration", + "abnormally decreased number of granulocyte", + "structure with developmental contribution from neural crest", + "abnormal neutrophil", + "ectoderm-derived structure", "abnormally decreased number of hematopoietic cell", - "forebrain", - "negative regulation of cellular metabolic process", - "telencephalon", - "obsolete cell", - "occurrent", - "abnormal skeletal system morphology", + "pnictogen molecular entity", + "Abnormal nervous system morphology", + "abnormally decreased number of cell", "oxygen molecular entity", - "anatomical collection", - "Abnormality of skull size", - "abnormal skull morphology", + "abnormal cell", + "abnormal programmed DNA elimination by chromosome breakage", + "organochalcogen compound", + "oxygen accumulating cell", + "protein", + "organic amino compound", + "Abnormal erythroid lineage cell morphology", + "leukocyte", + "Abnormality of chromosome stability", + "abnormal central nervous system morphology", + "material entity", + "abnormal alpha-fetoprotein level", + "Aplasia/Hypoplasia involving the central nervous system", + "Microcephaly", + "abnormal DNA metabolic process", + "blood cell", "chemical entity", - "regional part of brain", - "decreased size of the anatomical entity", - "musculoskeletal system", + "abnormal myeloid cell morphology", + "Abnormal myeloid cell morphology", + "abnormal forebrain morphology", + "negative regulation of gene expression", + "Phenotypic abnormality", + "abnormal blood cell morphology", + "Neutropenia", + "abnormally decreased number of cell in the independent continuant", "multicellular anatomical structure", - "skull", + "Abnormality of neutrophils", + "Abnormality of skull size", + "subdivision of organism along main body axis", + "abnormal skeletal system morphology", + "protein-containing material entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "Abnormal immune system morphology", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of anatomical entity", + "Elevated circulating alpha-fetoprotein concentration", + "abnormally decreased number of granulocyte in the independent continuant", + "non-connected functional system", + "abnormal size of multicellular organism", + "bone element", + "abnormally decreased number of leukocyte", + "abnormal hematopoietic cell morphology", + "abnormal granulocyte morphology", + "Chromosomal breakage induced by crosslinking agents", + "Abnormal circulating organic compound concentration", + "protein-containing molecular entity", + "skeleton", "bone marrow", - "Eukaryota", - "abnormal nervous system", - "Abnormal circulating nitrogen compound concentration", - "Abnormal axial skeleton morphology", - "erythroid lineage cell", - "abnormal size of anatomical entity", - "root", - "Abnormal neutrophil count", - "abnormal central nervous system morphology", - "abnormal size of skull", - "head", - "abnormally decreased number of granulocyte", - "organ system subdivision", - "Abnormal skull morphology", - "Abnormal circulating protein concentration", - "skeletal system", - "abnormal role independent continuant level", - "regional part of nervous system", - "Abnormal granulocyte morphology", - "subdivision of skeleton", - "subdivision of skeletal system", - "ectoderm-derived structure", - "cellular component organization or biogenesis", + "abnormal hematopoietic system", + "disconnected anatomical group", "abnormal immune system", - "polyatomic entity", - "Bone marrow hypocellularity", - "Abnormality of the nervous system", + "abnormal anatomical entity", "abnormal independent continuant nitrogen molecular entity level", - "abnormal craniocervical region morphology", - "craniocervical region", - "Abnormal leukocyte morphology", + "Abnormality of the head", + "Abnormal forebrain morphology", + "Abnormality of the immune system", + "Thrombocytopenia", + "abnormal anatomical entity morphology", + "Abnormal cerebral morphology", + "specifically dependent continuant", + "erythrocyte", "abnormal blood cell", - "abnormally decreased number of cell in the independent continuant", - "abnormal cellular component organization", + "organ system subdivision", + "abnormal size of skull", + "abnormal postcranial axial skeleton morphology", + "abnormal cell morphology", + "abnormal nervous system morphology", + "organism subdivision", + "decreased size of the anatomical entity", + "blood", + "subdivision of skeleton", + "Opisthokonta", + "telencephalon", + "axial skeletal system", + "abnormally decreased number of myeloid cell in the independent continuant", "cranial skeletal system", - "abnormal neutrophil", - "abnormal multicellular organism chemical entity level", - "abnormal immune system morphology", - "biological_process", - "alpha-fetoprotein", - "Abnormal myeloid cell morphology", - "nucleate cell", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Abnormal cellular phenotype", - "negative regulation of cellular process", - "hematopoietic system", - "blood cell", - "postcranial axial skeletal system", - "All", + "postcranial axial skeleton", + "abnormal skeletal system", + "Metazoa", + "axial skeleton plus cranial skeleton", + "Abnormality of the nervous system", "Eumetazoa", - "leukocyte", - "skeleton", - "mesoderm-derived structure", - "abnormal leukocyte morphology", - "nucleic acid metabolic process", - "p-block molecular entity", - "abnormal hematopoietic system", + "Eukaryota", + "abnormal craniocervical region", + "organism", "Decreased head circumference", - "specifically dependent continuant", - "regulation of metabolic process", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", + "Abnormality of thrombocytes", + "abnormal size of anatomical entity", + "abnormal platelet", + "cellular metabolic process", + "biogenic amine secreting cell", + "abnormal blood chemical entity level", + "abnormal number of anatomical enitites of type platelet", + "abnormally decreased number of platelet", "bone marrow cell", - "abnormally decreased number of myeloid cell", - "abnormal head morphology", - "Growth abnormality", - "nervous system", - "motile cell", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "organelle organization", - "abnormal granulocyte morphology", - "hematopoietic cell", + "abnormal blood protein polypeptide chain level", + "bone cell", + "Abnormality of bone marrow cell morphology", + "polypeptide", + "abnormal hematopoietic system morphology", + "Bone marrow hypocellularity", + "skeletal element", + "negative regulation of cellular metabolic process", + "abnormal bone marrow cell morphology", + "Anemia", + "abnormal bone marrow cell", + "Abnormal circulating alpha-fetoprotein concentration", + "Abnormality of multiple cell lineages in the bone marrow", + "carbon group molecular entity", + "abnormal independent continuant chemical entity level", + "Abnormal circulating nitrogen compound concentration", + "peptide", + "continuant", + "protein polypeptide chain", "abnormal chemical entity level", - "abnormal number of anatomical enitites of type leukocyte", - "protein-containing material entity", - "programmed DNA elimination by chromosome breakage", - "Neutropenia", - "abnormal skeletal system", - "abnormal cell", - "hemolymphoid system", - "abnormal anatomical entity morphology in the brain", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "phenotype by ontology source", + "abnormal number of anatomical enitites of type hematopoietic cell", + "process", + "abnormal role independent continuant level", "abnormal independent continuant protein level", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal DNA metabolic process", - "metabolic process", - "Phenotypic abnormality", - "myeloid cell", - "abnormal number of anatomical enitites of type granulocyte", - "abnormally decreased number of cell", - "neutrophil", - "independent continuant", - "Abnormality of blood and blood-forming tissues", - "anatomical structure", + "chalcogen molecular entity", "entity", - "brain", - "abnormal myeloid leukocyte morphology", - "Abnormal leukocyte count", - "phenotype", - "Abnormality of the skeletal system", + "subdivision of skeletal system", + "Abnormal circulating protein concentration", + "Abnormality of the musculoskeletal system", + "abnormally decreased number of myeloid cell", + "abnormal protein level", + "metabolic process", + "bodily fluid", + "organism substance", + "organ", + "occurrent", + "increased level of alpha-fetoprotein", + "abnormal role blood level", + "Abnormality of metabolism/homeostasis", + "organic substance metabolic process", + "Abnormal cellular physiology", + "increased level of chemical entity", + "head", + "amide", "platelet", - "abnormally decreased number of leukocyte", - "continuant", - "aplasia or hypoplasia of telencephalon", - "abnormal biological_process", - "primary metabolic process", - "abnormal anatomical entity morphology", - "Abnormality of the immune system", - "anatomical entity", - "Abnormal platelet count", - "abnormal alpha-fetoprotein level", - "Abnormal platelet morphology", - "central nervous system", - "Abnormality of neutrophils", - "cellular metabolic process", - "cell", - "structure with developmental contribution from neural crest", - "abnormally decreased number of granulocyte in the independent continuant", - "abnormally decreased number of anatomical entity in the independent continuant", - "axial skeleton plus cranial skeleton", - "Abnormal skeletal morphology", - "abnormal bone marrow cell", - "abnormal anatomical entity", - "axial skeletal system", - "abnormal growth", - "eukaryotic cell", - "material anatomical entity", - "Morphological central nervous system abnormality", - "abnormally decreased number of myeloid cell in the independent continuant", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of head or neck", - "Metazoa", - "granulocyte", - "multicellular organism", - "abnormal cell morphology", + "organooxygen compound", + "abnormal independent continuant alpha-fetoprotein level", + "p-block molecular entity", "biomacromolecule", - "Opisthokonta", - "abnormally decreased number of anatomical entity", - "Abnormality of thrombocytes", - "protein-containing complex organization", - "abnormal axial skeleton plus cranial skeleton morphology", - "Abnormal myeloid leukocyte morphology", - "Thrombocytopenia", - "Short stature", - "non-connected functional system", - "abnormal phenotype by ontology source", - "abnormal number of anatomical enitites of type neutrophil", - "regulation of cellular metabolic process", - "abnormal myeloid cell morphology", - "abnormal brain morphology", + "Abnormal platelet morphology", "heteroorganic entity", - "Elevated circulating alpha-fetoprotein concentration", - "postcranial axial skeleton", - "obsolete cellular aromatic compound metabolic process", - "abnormally decreased number of leukocyte in the independent continuant", - "organochalcogen compound", - "nitrogen molecular entity", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal size of multicellular organism", - "myeloid leukocyte" + "alpha-fetoprotein", + "abnormal head morphology", + "abnormal independent continuant protein polypeptide chain level", + "Abnormality of blood and blood-forming tissues", + "molecular entity", + "DNA metabolic process", + "carboxamide", + "abnormal blood nitrogen molecular entity level", + "Abnormal circulating organic amino compound concentration", + "abnormal multicellular organism chemical entity level", + "main group molecular entity", + "negative regulation of cellular biosynthetic process" ], "has_phenotype_count": 8, "highlight": null, @@ -12885,1115 +12885,1115 @@ "namespace": "MONDO", "has_phenotype": [ "HP:0001249", - "HP:0000252", "HP:0009777", "HP:0000238", + "HP:0006433", + "HP:0002650", + "HP:0002023", + "HP:0000252", "HP:0001510", "HP:0006349", "HP:0000125", "HP:0005528", - "HP:0006433", "HP:0000568", "HP:0007099", "HP:0001903", "HP:0003221", "HP:0031936", "HP:0002144", - "HP:0002650", - "HP:0002023", "HP:0003764" ], "has_phenotype_label": [ "Intellectual disability", - "Microcephaly", "Absent thumb", "Hydrocephalus", + "Radial dysplasia", + "Scoliosis", + "Anal atresia", + "Microcephaly", "Growth delay", "Agenesis of permanent teeth", "Pelvic kidney", "Bone marrow hypocellularity", - "Radial dysplasia", "Microphthalmia", "Chiari type I malformation", "Anemia", "Chromosomal breakage induced by crosslinking agents", "Delayed ability to walk", "Tethered cord", - "Scoliosis", - "Anal atresia", "Nevus" ], "has_phenotype_closure": [ - "UBERON:0002416", - "UPHENO:0003811", - "HP:0000951", + "HP:0001574", "HP:0011121", - "UPHENO:0076739", - "UBERON:0001245", - "UBERON:0000161", - "HP:0002023", - "HP:0000925", - "UPHENO:0002813", - "UPHENO:0074228", - "UBERON:0001130", - "HP:0010674", - "UBERON:0002240", + "UBERON:0002416", + "UPHENO:0002635", "UBERON:0005174", "HP:0002144", - "UPHENO:0087858", - "HP:0002143", - "HP:0031936", + "UBERON:0002240", + "HP:0012758", + "HP:0001270", + 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"UBERON:0002371", + "UPHENO:0049367", + "UPHENO:0087858", + "HP:0012210", + "UBERON:0005177", + "UPHENO:0085118", + "UBERON:0002113", "UPHENO:0053580", - "HP:0001903", - "UBERON:0007774", - "UPHENO:0076779", - "RO:0002577", - "HP:0000079", - "UBERON:0013701", "UBERON:0011143", - "UBERON:0006717", - "UPHENO:0011564", - "HP:0000086", - "UPHENO:0002832", - "HP:0012210", - "UBERON:0004122", - "UBERON:8450002", - "UBERON:0001359", - "UPHENO:0087427", - "UPHENO:0022529", - "UPHENO:0049367", - "UPHENO:0068971", - "UBERON:0003103", + "GO:0031052", "UBERON:0000489", "UBERON:0005173", - "UPHENO:0079872", "UBERON:0002417", - "HP:0012759", - "HP:0002818", + "UBERON:8450002", + "UBERON:0004122", + "HP:0010935", + "UBERON:0003103", "UBERON:0000916", - "HP:0000119", - "UBERON:0000033", - "UBERON:0000466", - "UPHENO:0069523", - "HP:0002664", + "HP:0100542", + "UBERON:0009569", + "UPHENO:0075902", + "UPHENO:0081755", + "UBERON:0001008", + "CL:0000329", + "HP:0000271", + "HP:0000086", + "UBERON:0003672", "HP:0011044", + "UBERON:0003913", + "CL:0000763", "HP:0031816", + "HP:0000164", "UBERON:0001091", + "GO:0034641", + "UPHENO:0011564", + "UBERON:0004921", + "UPHENO:0003020", + "UBERON:0002553", + "UBERON:0007774", + "GO:0065007", "UPHENO:0081526", + "HP:0000951", + "UPHENO:0002828", + "UBERON:0000167", "UPHENO:0076800", + "UPHENO:0002910", + "UBERON:0000466", + "UBERON:0013522", + "UPHENO:0000543", + "UPHENO:0049874", "HP:0001507", - "HP:0001871", - "UBERON:0000025", - "UPHENO:0063722", - "UBERON:0000167", - "UPHENO:0075219", - "BFO:0000141", - "UPHENO:0081601", - "UPHENO:0002828", - "UPHENO:0035025", - "GO:0044238", - "GO:0006807", - "UBERON:0003672", - "UPHENO:0063565", - "HP:0011793", - "UPHENO:0076786", - "GO:0050794", - "HP:0000153", - "UPHENO:0002826", "UBERON:0001456", - "UBERON:0004921", - "UPHENO:0002635", - "UPHENO:0026506", - "UBERON:0001555", - "UBERON:0003913", - "UBERON:0001007", + "UPHENO:0000541", + "HP:0001510", + "UPHENO:0002764", + "NCBITaxon:6072", 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"HP:0001167", + "HP:0040064", + "UBERON:0010707", + "UPHENO:0002964", + "UBERON:0002101", + "BFO:0000001", + "UBERON:0011249", + "HP:0009380", + "UBERON:0001444", + "HP:0011842", + "UPHENO:0075696", + "UBERON:0002470", + "UBERON:0002390", + "UBERON:0010000", "UPHENO:0085195", - "UBERON:0011137", - "UBERON:0002097", - "UPHENO:0002830", - "HP:0007364", - "UBERON:0005282", - "UBERON:0000075", - "HP:0000118", - "UBERON:0000475", - "UPHENO:0001001", - "UBERON:0001423", - "UBERON:0002513", - "UPHENO:0076803", - "NCBITaxon:33154", + "UBERON:0012475", + "HP:0011283", + "UPHENO:0075997", + "UPHENO:0020888", + "GO:0008150", + "PATO:0000001", + "UPHENO:0026028", + "UPHENO:0081435", + "UBERON:5006048", + "HP:0010674", + "UPHENO:0002839", + "UBERON:0010314", + "UBERON:0001062", + "UPHENO:0076957", "UBERON:0011216", + "HP:0009804", + "HP:0005922", + "UBERON:0002097", + "HP:0006349", + "HP:0012759", + "UBERON:0002398", "BFO:0000015", + "GO:0010605", + "GO:0009892", + "HP:0011844", "UPHENO:0080079", - "UBERON:0001017", - "HP:0003221", - "BFO:0000004", - "UBERON:0001895", - "UBERON:0000073", - "HP:0009380", - "UBERON:0000465", - "UPHENO:0020584", + "HP:0100543", + "UBERON:0006717", + "UPHENO:0001003", + "UPHENO:0076724", "UBERON:0000061", - "UBERON:0001460", - "UBERON:0010314", + "UPHENO:0086172", + "HP:0000707", + "HP:0000125", + "HP:0002817", + "HP:0009601", + "UPHENO:0084928", + "UBERON:0003607", "UBERON:0000062", - "UPHENO:0021474", - "UBERON:0003460", - "HP:0100543", - "GO:0071824", - "UPHENO:0002642", - "HP:0011446", - "BFO:0000002", - "UBERON:0006048", - "HP:0040068", - "UPHENO:0087907", - "UBERON:0005451", + "UPHENO:0076803", + "UPHENO:0002896", + "UPHENO:0049873", + "HP:0005561", + "UBERON:0000153", + "UPHENO:0076740", + "UBERON:0001016", + "UBERON:0001017", + "UBERON:0006314", + "UPHENO:0053588", + "UPHENO:0063722", + "UPHENO:0063599", + "GO:0090304", + "UPHENO:0015280", + "UBERON:0000479", + "UPHENO:0035025", + "UBERON:0001007", + "UPHENO:0049700", + "UPHENO:0011589", + "HP:0005927", + "NCBITaxon:33208", + "UPHENO:0002536", + "UPHENO:0076692", + "UBERON:0000019", + "UBERON:0010708", + "GO:0050890", + "UPHENO:0084761", + "UPHENO:0047419", + "UPHENO:0011498", + "HP:0006496", + "UBERON:0001434", + "UPHENO:0004523", + "UPHENO:0056237", + "UBERON:0010758", + "UPHENO:0026506", "GO:0032501", - "UPHENO:0086932", - "HP:0000234", - "HP:0100547", - "HP:0004378", - "HP:0011842", - "GO:0050877", + "UPHENO:0004459", + "UBERON:0002428", + "BFO:0000004", + "HP:0000001", + "UBERON:0001442", + "UPHENO:0080209", + "UBERON:0004923", + "UBERON:0012354", + "UBERON:0000020", + "HP:0040072", + "UPHENO:0080099", + "UBERON:0003129", + "UBERON:0015061", + "HP:0001249", + "UPHENO:0002833", + "UPHENO:0076703", + "BFO:0000040", + "UBERON:0002544", + "GO:0006259", + "UPHENO:0076720", + "UBERON:0002100", "UPHENO:0082875", - "HP:0100887", - "UBERON:0005177", - "UBERON:0002529", - "UBERON:0004765", - "HP:0100542", - "UBERON:0007272", - "BFO:0000001", - "UBERON:0019221", - "UPHENO:0087472", - "BFO:0000020", - "UPHENO:0081566", - "UBERON:0000047", - "HP:0000929", - "UPHENO:0088047", - "UBERON:0001062", - "HP:0009804", - "UBERON:0004375", - "HP:0025033", - "HP:0000707", + "UBERON:0001474", + "UBERON:0005358", + "GO:0044237", + "HP:0002977", + "UBERON:0010363", + "UBERON:0006058", + "NCBITaxon:131567", + "UPHENO:0076723", + "HP:0000077", + "UPHENO:0002905", + "UPHENO:0086635", + "HP:0033127", + "UBERON:0002471", + "HP:0040070", + "HP:0100547", "UPHENO:0002880", + "GO:1901360", + "BFO:0000141", + "UPHENO:0002830", + "HP:0001903", + "UBERON:0005944", + "UBERON:0034925", + "UBERON:0004708", + "UPHENO:0086932", + "UBERON:5002544", + "UBERON:0000465", + "UBERON:0001130", + "UBERON:0005881", + "HP:0003330", + "HP:0040012", + "UPHENO:0071344", "UBERON:0000467", - "HP:0002060", - "UPHENO:0076723", - "UPHENO:0002839", - "UBERON:0009569", - "UBERON:0002101", - "HP:0005528", - "BFO:0000040", - "UPHENO:0001005", - "CL:0000763", + "UPHENO:0081466", + "UBERON:0004765", + "UPHENO:0085144", + "UBERON:0004288", + "GO:0010558", + "UBERON:0008785", + "UBERON:0012139", + "UPHENO:0084448", + "UBERON:0004710", + "UPHENO:0085068", + "UPHENO:0009382", + "HP:0000238", + "UBERON:5001463", "HP:0000163", - "HP:0002817", - "UBERON:0001137", - "UBERON:0034925", - "UBERON:0007811", - "HP:0012638", - "UBERON:0010000", - "HP:0003220", - "UBERON:0000026", + "UPHENO:0002433", + "UBERON:0003947", + "NCBITaxon:2759", + "UBERON:0002389", + "UBERON:0001895", + "UPHENO:0002826", + "UBERON:0010740", + "UBERON:0004121", + "UBERON:0015203", + "UPHENO:0002642", + "UPHENO:0080325", + "HP:0011355", + "UBERON:0001359", + "UPHENO:0087006", + "UPHENO:0088047", + "UBERON:0000064", + "UPHENO:0056212", + "UPHENO:0078606", + "HP:0002664", + "UBERON:0004733", + "UPHENO:0056333", + "HP:0012443", + "UPHENO:0035147", + "UBERON:0005282", + "HP:0000929", + "UBERON:0000073", + "RO:0002577", + "UBERON:0000955", + "UBERON:0005281", + "GO:0016043", + "HP:0002011", + "UBERON:0000047", + "HP:0025461", + "UPHENO:0076805", + "GO:0031323", + "HP:0000079", + "UBERON:0002513", + "UBERON:0011138", + "UPHENO:0026183", + "HP:0040068", + "UPHENO:0056072", + "UBERON:0002028", + "BFO:0000002", + "HP:0012639", + "UPHENO:0047299", + "UBERON:0004086", + "UPHENO:0076702", + "HP:0031938", + "UBERON:0000463", + "UBERON:0000161", + "HP:0025031", + "UBERON:0002104", + "HP:0002118", + "UPHENO:0081451", + "UPHENO:0087349", + "UBERON:0002386", + "UBERON:0015021", + "GO:0009987", + "UBERON:0010703", + "UPHENO:0086956", + "UPHENO:0079872", + "UPHENO:0002751", + "BFO:0000020", + "UBERON:0001555", + "UBERON:0006048", + "UPHENO:0087510", + "UPHENO:0080114", + "UBERON:0015001", + "UBERON:0004381", + "UBERON:0008962", + "HP:0004378", + "HP:0031936", + "GO:0048519", + "HP:0011314", + "UPHENO:0086644", + "UBERON:0004456", + "UBERON:0001423", + "UPHENO:0087924", "UPHENO:0001002", - "HP:0001249" + "UBERON:0003460", + "UBERON:0010741", + "UBERON:0003466", + "UPHENO:0076718", + "HP:0000925", + "GO:0031326", + "UBERON:0002090", + "UPHENO:0002813", + "HP:0006433", + "UBERON:0000025", + "UPHENO:0022529", + "HP:0009121", + "HP:0011793", + "UPHENO:0076786", + "HP:0002818", + "HP:0002023", + "HP:0025033", + "UBERON:0001245", + "HP:0006483", + "UBERON:0010912", + "UPHENO:0063565" ], "has_phenotype_closure_label": [ + "Abnormality of the skin", + "abnormal skin of body morphology", + "skin of body", "integument", "integumental system", - "abnormal integument", - "abnormal skin of body morphology", - "Localized skin lesion", - "abnormal anus morphology", - "anatomical entity atresia", - "anus", - "Abnormality of the anus", - "Abnormal anus morphology", - "Abnormality of the vertebral column", - "abnormal vertebral column", - "vertebral column", - "Abnormal curvature of the vertebral column", - "Scoliosis", - "dorsal region element", + "Nevus", "Abnormal spinal cord morphology", - "Tethered cord", - "dorsum", "spinal cord", - "Delayed gross motor development", - "abnormal spinal cord morphology", - "abnormal metabolic process", - "biological regulation", - "metabolic process", - "cellular process", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "Chromosomal breakage induced by crosslinking agents", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "regulation of cellular process", - "regulation of metabolic process", - "negative regulation of biological process", - "nucleobase-containing compound metabolic process", - "organic cyclic compound metabolic process", - "obsolete heterocycle metabolic process", - "obsolete cellular nitrogen compound metabolic process", - "cellular component organization", - "regulation of biosynthetic process", - "regulation of cellular metabolic process", - "negative regulation of cellular process", - "organelle organization", - "protein-containing complex organization", - "abnormal cellular process", - "regulation of gene expression", - "negative regulation of macromolecule biosynthetic process", - "programmed DNA elimination", - "obsolete cell", - "regulation of cellular biosynthetic process", - "negative regulation of biosynthetic process", - "negative regulation of macromolecule metabolic process", - "negative regulation of cellular metabolic process", - "DNA metabolic process", - "myeloid cell", - "oxygen accumulating cell", - "blood cell", - "erythroid lineage cell", - "Anemia", - "abnormal erythroid lineage cell morphology", - "abnormal myeloid cell morphology", - "nucleic acid metabolic process", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "Abnormal metencephalon morphology", - "abnormally formed cerebellum", - "Abnormal hindbrain morphology", - "hindbrain", - "organic substance metabolic process", - "cerebellum", - "metencephalon", - "Chiari type I malformation", - "Abnormal cerebellum morphology", - "abnormal cerebellum morphology", - "abnormally formed anatomical entity in independent continuant", - "segmental subdivision of hindbrain", - "Abnormality of the skin", - "abnormal metencephalon morphology", - "abnormal hindbrain morphology", - "visual system", - "chromatin organization", - "sensory system", - "eye", - "orbital region", - "Neurodevelopmental delay", - "decreased size of the anatomical entity in the independent continuant", - "entire sense organ system", - "Abnormal cellular phenotype", - "Abnormality of the orbital region", - "abnormal eyeball of camera-type eye", - "eyeball of camera-type eye", - "camera-type eye", - "appendage girdle complex", - "decreased size of the eyeball of camera-type eye", - "anatomical conduit", - "Abnormality of globe size", - "forelimb endochondral element", - "abnormal forelimb zeugopod morphology", - "abnormal radius bone morphology", - "abnormal bone of pectoral complex morphology", - "dysgenesis of the radius bone", - "limb long bone", - "bone of free limb or fin", - "Abnormal morphology of the radius", - "arm bone", - "radius bone", - "Radial dysplasia", - "long bone", - "abnormally decreased number of anatomical entity", - "Abnormal forearm morphology", - "abnormal forebrain morphology", - "hematopoietic system", - "abnormally localised anatomical entity", - "non-connected functional system", - "system process", - "Neoplasm", - "abnormal bone marrow cell", - "abnormal nitrogen compound metabolic process", - "abnormal immune system", - "hemolymphoid system", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", - "abnormal bone marrow cell morphology", - "phenotype", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormality of bone marrow cell morphology", - "disconnected anatomical group", - "tissue", - "Abnormality of the immune system", - "phenotype by ontology source", - "cell", - "limb bone", - "abnormal cell morphology", - "macromolecule metabolic process", - "bone of pectoral complex", - "abnormal upper urinary tract", - "renal system", - "cavitated compound organ", - "anus atresia", - "abdomen", - "excretory system", - "Abnormality of the genitourinary system", - "Abnormality of limbs", - "Abnormal renal morphology", - "Growth abnormality", - "abnormal renal system morphology", - "subdivision of trunk", - "abdomen element", - "pectoral complex", - "trunk region element", - "Abnormal nervous system morphology", - "forelimb zeugopod", "Abnormal conus terminalis morphology", - "Abnormality of head or neck", - "Abnormal eye morphology", - "abnormal kidney morphology", - "aplastic secondary dentition", - "Abnormality of skin morphology", - "brain ventricle/choroid plexus", - "abnormal number of anatomical enitites of type secondary dentition", - "bone marrow", - "tooth-like structure", - "digestive system", - "subdivision of head", - "abnormal location of anatomical entity", - "oral cavity", - "anatomical space", - "abnormal digestive system", - "subdivision of digestive tract", - "abnormal digestive system morphology", - "digestive tract", - "Abnormality of digestive system morphology", - "abnormal oral cavity morphology", - "abnormal mouth", - "simple eye", - "abnormally decreased number of anatomical entity in the independent continuant", - "quality", - "forelimb zeugopod bone", - "Agenesis of permanent teeth", - "Abnormality of the digestive system", - "mouth", - "tube", - "autopodial extension", - "Abnormal oral morphology", - "abnormal mouth morphology", - "abnormal size of eyeball of camera-type eye", - "aplastic anatomical entity", - "abnormal face", - "Abnormality of the upper urinary tract", - "abnormal dentition", - "growth", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "abnormal growth", - "Pelvic kidney", - "Abnormal localization of kidney", - "Abnormal erythroid lineage cell morphology", - "transudate", - "skeletal system", - "upper urinary tract", - "abnormally increased number of brain ventricle in the independent continuant", - "trunk", - "digit 1 plus metapodial segment", - "anatomical wall", - "abnormal anatomical entity morphology in the pectoral complex", - "bodily fluid", - "autopod region", - "compound organ", - "abnormal brain ventricle morphology", - "cerebrospinal fluid", - "Abnormal cerebrospinal fluid morphology", - "zeugopodial skeleton", - "ventricle of nervous system", - "brain ventricle", - "Aplasia/Hypoplasia involving the central nervous system", - "organism substance", - "specifically dependent continuant", - "Hydrocephalus", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Abnormal forearm bone morphology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "calcareous tooth", - "ventricular system of central nervous system", - "abnormal forelimb zeugopod bone", - "kidney", - "negative regulation of gene expression", - "ventricular system of brain", - "Abnormal cerebral ventricle morphology", - "abnormally increased number of anatomical entity in the independent continuant", - "abnormal kidney", - "abnormal brain ventricle/choroid plexus morphology", - "abnormal DNA metabolic process", + "dorsum", + "abnormal primary metabolic process", + "negative regulation of biosynthetic process", + "abnormal organelle organization", + "programmed DNA elimination", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "nucleic acid metabolic process", + "protein-containing complex organization", + "regulation of biological process", + "primary metabolic process", + "obsolete nitrogen compound metabolic process", + "cellular component organization or biogenesis", + "abnormal cellular component organization", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "Chromosomal breakage induced by crosslinking agents", + "metabolic process", + "abnormal cellular process", + "regulation of cellular process", + "negative regulation of biological process", + "organelle organization", + "obsolete cellular nitrogen compound metabolic process", + "regulation of gene expression", + "negative regulation of cellular biosynthetic process", + "chromatin organization", + "Chromosome breakage", "abnormal chromatin organization", - "forelimb", - "Microphthalmia", - "malformed anatomical entity", - "autopodial skeleton", + "abnormal erythroid lineage cell morphology", + "Abnormal erythrocyte morphology", + "abnormal hematopoietic cell morphology", + "abnormal spinal cord morphology", + "Abnormal erythroid lineage cell morphology", + "abnormal myeloid cell morphology", + "oxygen accumulating cell", + "hematopoietic cell", + "abnormally formed anatomical entity", + "segmental subdivision of nervous system", + "hindbrain", + "Abnormal metencephalon morphology", + "Cerebellar malformation", "Motor delay", - "abnormal anatomical entity", - "paired limb/fin", - "abnormal limb long bone morphology", - "regulation of macromolecule metabolic process", - "continuant", - "aplastic manual digit 1", - "Abnormal appendicular skeleton morphology", - "delayed biological_process", - "abnormal anatomical entity morphology in the manus", - "abnormal hematopoietic system morphology", - "Abnormal number of teeth", - "Aplasia/hypoplasia involving the skeleton", - "pectoral appendage", - "mesoderm-derived structure", - "cellular component organization or biogenesis", - "Phenotypic abnormality", - "Abnormality of the face", - "abnormal digit morphology", - "orifice", - "abnormal orbital region", - "bone marrow cell", - "abnormal manus", - "abnormal anatomical entity morphology in the independent continuant", - "segment of manus", - "manual digit 1", - "multi-limb segment region", + "regulation of macromolecule biosynthetic process", + "abnormal size of eyeball of camera-type eye", + "abnormal face morphology", + "cellular metabolic process", + "simple eye", + "abnormal integument", + "eyeball of camera-type eye", + "decreased size of the anatomical entity in the independent continuant", + "orbital region", + "Abnormality of the orbital region", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", + "decreased size of the eyeball of camera-type eye", + "Anemia", + "camera-type eye", + "abnormal bone marrow cell", + "Abnormality of blood and blood-forming tissues", + "abnormal cell", "immune system", - "face", - "Microcephaly", - "abnormal craniocervical region", - "limb skeleton subdivision", - "manual digit plus metapodial segment", - "abnormal immune system morphology", - "radius endochondral element", - "Abnormal number of permanent teeth", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "abnormal cellular metabolic process", - "acropodium region", - "abnormally decreased number of calcareous tooth", - "Abnormality of the dentition", - "skeleton", - "Absent thumb", - "Abnormality of skull size", - "Abnormal digit morphology", - "aplasia or hypoplasia of manual digit", - "absent anatomical entity in the limb", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "Abnormality of the upper limb", - "abnormal telencephalon morphology", - "Bone marrow hypocellularity", - "Abnormality of the nervous system", - "abnormal cellular component organization", - "appendicular skeletal system", - "Eukaryota", - "forebrain", + "disconnected anatomical group", + "abnormal immune system", + "non-connected functional system", + "Abnormal cellular phenotype", "Abnormality of the integument", - "paired limb/fin segment", - "nervous system", - "skeleton of limb", - "Abnormal oral cavity morphology", - "regulation of biological process", - "Abnormal thumb morphology", - "Eumetazoa", - "segment of autopod", - "abnormal appendicular skeleton morphology", - "manual digit 1 or 5", - "abnormal anus", - "Abnormal cell morphology", - "organ component layer", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal forebrain morphology", - "manus", - "system", - "subdivision of organism along main body axis", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the hand", - "bone cell", - "digit 1", - "regional part of nervous system", - "abnormal head", - "abnormal autopod region morphology", - "digit", - "Abnormality of the skeletal system", - "abdominal segment of trunk", - "abnormal limb", - "Delayed ability to walk", - "regional part of brain", - "Intellectual disability", - "digit 1 or 5", - "absent manual digit", - "Abnormal hand morphology", - "All", - "Abnormal axial skeleton morphology", - "appendicular skeleton", "abnormal skin of body", - "segmental subdivision of nervous system", - "absent anatomical entity in the forelimb", - "Nevus", - "abnormal manual digit morphology in the independent continuant", - "Growth delay", - "forelimb skeleton", - "abnormal anatomical entity morphology in the appendage girdle complex", - "anatomical collection", - "Abnormality of multiple cell lineages in the bone marrow", - "skeleton of pectoral complex", - "manual digitopodium region", - "anterior region of body", - "absent anatomical entity in the multicellular organism", - "forelimb long bone", - "abnormal manus morphology", - "obsolete cellular aromatic compound metabolic process", - "immaterial entity", - "immaterial anatomical entity", - "endochondral element", - "endochondral bone", - "negative regulation of cellular biosynthetic process", - "Abnormal bone structure", - "Abnormality of the mouth", - "arm", - "limb", - "lateral structure", - "secondary dentition", - "abnormal number of anatomical enitites of type anatomical entity", - "digit plus metapodial segment", - "Neoplasm by anatomical site", - "Abnormality of limb bone", - "abnormal axial skeleton plus cranial skeleton morphology", + "Abnormality of bone marrow cell morphology", + "hemolymphoid system", + "Abnormality of the immune system", + "abnormal hematopoietic system", + "abnormal renal system morphology", + "abnormal anatomical entity topology in independent continuant", "abnormal genitourinary system", - "axial skeletal system", - "abnormality of nervous system physiology", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/hypoplasia involving bones of the extremities", - "agenesis of anatomical entity", - "Aplasia/Hypoplasia affecting the eye", - "biological_process", - "subdivision of skeleton", - "protein-containing material entity", - "bone of appendage girdle complex", - "manual digit", - "abnormal nervous system morphology", - "abnormal cell", - "bone element", - "nervous system process", - "body proper", - "abnormal programmed DNA elimination by chromosome breakage", - "Abnormality of brain morphology", - "subdivision of skeletal system", - "sense organ", - "abnormal postcranial axial skeleton morphology", - "telencephalon", - "manual digit 1 plus metapodial segment", - "protein-DNA complex organization", - "organ", + "abnormally localised anatomical entity", + "Ectopic kidney", + "abnormal renal system", + "negative regulation of cellular metabolic process", + "abnormal bone marrow cell morphology", + "abdomen element", + "abnormal eyeball of camera-type eye", + "Abnormality of the kidney", + "abnormally localised anatomical entity in independent continuant", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "abdominal segment element", + "abdominal segment of trunk", + "abdomen", + "Abnormality of the upper urinary tract", + "abnormal bone marrow morphology", + "abnormal location of anatomical entity", + "abnormal erythrocyte morphology", + "Abnormal number of permanent teeth", + "abnormally localised kidney", + "abnormally decreased number of anatomical entity in the multicellular organism", + "Abnormality of the face", + "Agenesis of permanent teeth", + "abnormally decreased number of anatomical entity", + "anatomical cavity", + "abnormally decreased number of calcareous tooth", + "cellular component organization", + "abnormal number of anatomical enitites of type calcareous tooth", + "secondary dentition", + "abnormal mouth morphology", + "calcareous tooth", + "dentition", + "subdivision of tube", + "Abnormal oral morphology", + "Abnormality of multiple cell lineages in the bone marrow", + "Abnormality of the dentition", + "Abnormal number of teeth", + "myeloid cell", + "aplastic secondary dentition", + "abnormally decreased number of anatomical entity in the independent continuant", + "growth", + "subdivision of digestive tract", + "delayed biological_process", + "Growth delay", + "abnormal biological_process", "programmed DNA elimination by chromosome breakage", - "abnormal bone marrow morphology", - "organism subdivision", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormality of limb bone morphology", - "zeugopod", + "abnormal orbital region", + "Abnormal localization of kidney", + "face", + "Growth abnormality", + "delayed growth", + "abnormal size of anatomical entity", + "Decreased head circumference", + "cranial skeletal system", + "Abnormality of the genitourinary system", + "forebrain", + "abnormal forebrain morphology", + "Eukaryota", + "Eumetazoa", + "abnormal skull morphology", + "Abnormality of the mouth", + "abnormal size of skull", + "abnormal telencephalon morphology", + "dorsal region element", + "Abnormality of skull size", + "Abnormal oral cavity morphology", + "abnormal head morphology", + "tooth-like structure", + "Abnormality of head or neck", + "body proper", + "regional part of brain", + "aplasia or hypoplasia of telencephalon", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal craniocervical region morphology", + "kidney", + "regional part of nervous system", + "visual system", "abnormal anatomical entity morphology in the brain", - "organ system subdivision", - "process", + "Abnormal skull morphology", + "abnormal kidney morphology", "main body axis", - "cellular organisms", - "skin of body", - "Abnormal cellular physiology", - "abnormal biological_process", + "subdivision of organism along main body axis", "multi-tissue structure", - "abnormal forelimb morphology", - "aplasia or hypoplasia of telencephalon", - "abnormal brain morphology", - "abnormal limb bone", - "abnormality of anatomical entity physiology", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormally formed anatomical entity", - "abnormal central nervous system morphology", - "root", - "abnormal size of anatomical entity", - "skull", - "cognition", - "decreased size of the anatomical entity", - "negative regulation of metabolic process", - "abnormal camera-type eye morphology", - "abnormally localised anatomical entity in independent continuant", - "musculoskeletal system", - "delayed growth", - "abnormal cerebrospinal fluid morphology", - "organism", - "Abnormal skeletal morphology", - "limb endochondral element", - "anatomical entity", - "axial skeleton plus cranial skeleton", - "paired limb/fin skeleton", - "postcranial axial skeletal system", - "abnormal size of skull", "Abnormality of the musculoskeletal system", - "dysgenesis of the anatomical entity", - "Neurodevelopmental abnormality", - "Abnormal skull morphology", - "Abnormality of the eye", - "abnormal skull morphology", - "erythrocyte", - "abnormal limb bone morphology", + "cellular organisms", + "abnormal digit", + "bodily fluid", "aplasia or hypoplasia of anatomical entity", - "cellular metabolic process", - "abnormally increased number of anatomical entity", - "abnormal anatomical entity topology in independent continuant", + "Aplasia/hypoplasia involving the skeleton", + "anatomical entity", + "Aplasia/hypoplasia involving bones of the upper limbs", + "bone marrow cell", + "system", + "aplasia or hypoplasia of manual digit 1", + "Abnormality of limbs", + "regulation of cellular metabolic process", + "regulation of metabolic process", + "Abnormality of limb bone morphology", + "abnormal brain ventricle/choroid plexus morphology", + "brain", + "abnormal anatomical entity morphology in the independent continuant", "limb segment", - "abnormally localised kidney", - "Cerebellar malformation", - "postcranial axial skeleton", - "central nervous system", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal mouth", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "limb endochondral element", + "genitourinary system", + "forelimb skeleton", + "abnormal number of anatomical enitites of type anatomical entity", + "limb bone", + "Abnormal finger morphology", + "abnormally formed cerebellum", + "absent anatomical entity in the limb", + "Abnormality of the skeletal system", + "abnormal metencephalon morphology", + "Abnormal forearm bone morphology", + "abnormal digit morphology", + "Abnormal forebrain morphology", + "abnormal appendicular skeleton morphology", + "multi-limb segment region", + "endochondral element", + "digit", + "abnormal arm", + "absent anatomical entity in the forelimb", + "Tethered cord", + "excretory system", + "Abnormal curvature of the vertebral column", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "Abnormal cerebellum morphology", + "digit 1 plus metapodial segment", + "head", + "Abnormality of limb bone", + "Neurodevelopmental delay", + "pectoral appendage", "absent anatomical entity", - "Chromosome breakage", - "abnormal number of anatomical enitites of type calcareous tooth", + "brain ventricle", + "aplastic manual digit 1", + "abnormal growth", + "independent continuant", + "organic cyclic compound metabolic process", + "segment of autopod", + "postcranial axial skeletal system", + "paired limb/fin skeleton", + "Abnormal cerebrospinal fluid morphology", + "Abnormal thumb morphology", + "phenotype by ontology source", + "skeletal system", + "root", + "appendage", + "tube", + "abnormal manual digit 1 morphology", + "organ subunit", "Cognitive impairment", - "Metazoa", + "anatomical space", + "paired limb/fin", + "digestive system", + "upper limb segment", + "appendicular skeleton", + "abnormal anatomical entity morphology in the manus", + "manual digitopodium region", + "abnormal forelimb morphology", + "Aplasia/Hypoplasia affecting the eye", + "abnormal hematopoietic system morphology", + "abnormal dentition", + "Abnormal nervous system physiology", + "subdivision of trunk", + "absent manual digit", + "abnormal phenotype by ontology source", + "cerebrospinal fluid", + "Abnormal cell morphology", + "phenotype", + "nucleobase-containing compound metabolic process", + "abnormal hindbrain morphology", + "absent digit", + "Abnormality of the eye", + "abnormal upper urinary tract", + "mouth", + "musculoskeletal system", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "Abnormal eye morphology", + "manual digit", + "Abnormal morphology of the radius", + "Neurodevelopmental abnormality", + "subdivision of organism along appendicular axis", + "Abnormality of mental function", + "organic substance metabolic process", + "Abnormal cellular physiology", + "Pelvic kidney", + "abnormality of nervous system physiology", + "skeleton of manus", + "lateral structure", + "digestive tract", + "process", + "hematopoietic system", + "multicellular organism", + "absent anatomical entity in the multicellular organism", + "agenesis of anatomical entity", + "abnormal face", + "autopodial extension", + "Bone marrow hypocellularity", + "skeletal element", + "zeugopod", + "negative regulation of gene expression", + "Phenotypic abnormality", + "Abnormality of the hand", + "Abnormal appendicular skeleton morphology", + "Delayed ability to walk", + "material entity", + "abnormal cerebellum morphology", + "skeleton", + "nervous system process", + "abnormal number of anatomical enitites of type secondary dentition", + "system process", + "anatomical collection", + "All", + "Abnormal cerebral ventricle morphology", + "Abnormal upper limb bone morphology", + "Abnormal hindbrain morphology", + "renal system", + "nervous system", + "abnormal limb bone morphology", + "cellular process", + "Abnormal digit morphology", + "decreased size of the anatomical entity", + "cognition", + "ventricular system of brain", + "anatomical structure", + "abnormal manus", + "abnormally increased number of brain ventricle in the independent continuant", + "organism", + "autopod region", + "biological_process", + "Finger aplasia", + "entire sense organ system", + "continuant", + "manual digit 1 plus metapodial segment", + "obsolete cellular aromatic compound metabolic process", + "multicellular organismal process", + "abnormal skeletal system morphology", + "protein-containing material entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "organ part", + "forelimb endochondral element", + "multicellular anatomical structure", + "Scoliosis", + "forelimb zeugopod", + "abnormal nervous system", + "manual digit 1 or 5", + "Neoplasm", + "upper urinary tract", + "Anal atresia", + "digit plus metapodial segment", + "skeleton of limb", + "material anatomical entity", + "segmental subdivision of hindbrain", + "brain ventricle/choroid plexus", + "anatomical system", + "quality", + "abnormal manus morphology", "pectoral appendage skeleton", - "Abnormality of the kidney", - "anatomical cavity", - "ectoderm-derived structure", - "Aplasia/Hypoplasia of fingers", - "subdivision of tube", - "Opisthokonta", - "Abnormal long bone morphology", - "structure with developmental contribution from neural crest", - "dentition", - "Abnormal myeloid cell morphology", - "abnormally decreased number of anatomical entity in the multicellular organism", + "manual digit plus metapodial segment", + "abnormal limb long bone morphology", + "radius endochondral element", + "regulation of cellular biosynthetic process", + "biological regulation", + "Abnormality of globe size", + "Intellectual disability", + "abnormal digestive system morphology", + "bone marrow", + "acropodium region", "Aplasia/hypoplasia of the extremities", + "forelimb", + "Abnormal skeletal morphology", + "aplasia or hypoplasia of manual digit", + "digit 1", + "obsolete heterocycle metabolic process", + "erythroid lineage cell", + "Abnormal axial skeleton morphology", + "postcranial axial skeleton", + "bone of free limb or fin", + "abnormal autopod region morphology", + "Absent thumb", + "anterior region of body", + "aplastic anatomical entity", + "autopodial skeleton", + "bone element", + "sense organ", + "abnormal limb bone", + "Abnormal nervous system morphology", + "abnormal immune system morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "manual digit 1", + "Abnormality of metabolism/homeostasis", + "abnormal anus morphology", + "organism subdivision", "occurrent", - "abnormal skeletal system morphology", - "anatomical system", - "abnormal anatomical entity morphology", - "abnormal skeletal system", - "abnormal organelle organization", - "head", - "abnormal head morphology", - "forelimb bone", - "subdivision of organism along appendicular axis", + "organ", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "bone of pectoral complex", + "entity", + "subdivision of skeletal system", + "Delayed gross motor development", + "subdivision of skeleton", + "endochondral bone", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal head", + "arm", + "Abnormal myeloid cell morphology", + "digit 1 or 5", + "bone cell", + "Aplasia/Hypoplasia of the thumb", + "regulation of biosynthetic process", "absent anatomical entity in the independent continuant", - "craniocervical region", - "brain", - "abnormal hematopoietic cell morphology", + "Neoplasm by anatomical site", + "cell", + "limb", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "trunk region element", + "pectoral complex", + "eye", + "Opisthokonta", + "paired limb/fin segment", + "appendicular skeletal system", + "skeleton of pectoral complex", + "limb skeleton subdivision", + "abnormal forelimb zeugopod bone", + "abnormal manual digit morphology in the independent continuant", + "manus", + "abnormal limb", + "Abnormality of digestive system morphology", + "Microphthalmia", + "abnormal skeletal system", + "macromolecule metabolic process", + "appendage girdle complex", + "Localized skin lesion", + "immaterial entity", + "Abnormal hand morphology", "abnormal limb morphology", - "organ part", - "multicellular organism", - "abnormal arm", - "Anal atresia", - "Abnormal nervous system physiology", - "Finger aplasia", - "digitopodium region", - "Tooth agenesis", - "abnormal hematopoietic system", - "hematopoietic cell", - "Decreased head circumference", - "abnormal craniocervical region morphology", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the urinary system", - "Chiari malformation", - "anatomical structure", + "forelimb zeugopod skeleton", + "mesoderm-derived structure", + "cerebellum", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "abnormal closing of the anatomical entity", + "Hydrocephalus", + "malformed anatomical entity", "Morphological central nervous system abnormality", - "multicellular organismal process", - "abnormal long bone morphology", - "entity", + "cavitated compound organ", + "abnormal brain morphology", + "bone of appendage girdle complex", + "anatomical wall", + "organ component layer", + "organism substance", + "Microcephaly", + "abnormal forelimb zeugopod morphology", + "central nervous system", + "ventricular system of central nervous system", + "abnormal anus", + "Chiari malformation", + "anatomical conduit", "Abnormality of the head", - "Abnormality of mental function", - "abdominal segment element", - "absent digit", - "genitourinary system", - "material anatomical entity", - "appendage", - "aplasia or hypoplasia of skeleton", - "independent continuant", - "upper limb segment", - "cranial skeletal system", - "abnormal nervous system", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal renal system", - "Abnormal upper limb bone morphology", - "skeletal element", - "abnormal digit", - "abnormal closing of the anatomical entity", - "material entity", - "organ subunit", + "abnormally increased number of anatomical entity", + "Abnormality of the urinary system", + "transudate", + "forelimb bone", + "skull", + "abnormal cerebrospinal fluid morphology", + "abnormal brain ventricle morphology", + "abnormally formed anatomical entity in independent continuant", + "oral cavity", + "dysgenesis of the radius bone", + "Abnormality of chromosome stability", + "abnormal kidney", + "abnormal central nervous system morphology", + "craniocervical region", + "abnormal long bone morphology", + "abnormal cell morphology", + "abnormal nervous system morphology", + "Tooth agenesis", "Abnormal cerebral morphology", - "Ectopic kidney", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "arm bone", + "ventricle of nervous system", + "axial skeletal system", + "Radial dysplasia", + "Abnormal long bone morphology", + "abnormal radius bone morphology", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "long bone", + "abnormal DNA metabolic process", + "blood cell", "abnormal manual digit morphology in the manus", - "abnormal phenotype by ontology source" + "radius bone", + "forelimb long bone", + "obsolete cell", + "compound organ", + "zeugopodial skeleton", + "limb long bone", + "dysgenesis of the anatomical entity", + "subdivision of head", + "Abnormality of brain morphology", + "forelimb zeugopod bone", + "metencephalon", + "abnormal digestive system", + "abnormal anatomical entity", + "Abnormal forearm morphology", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "trunk", + "Abnormality of the vertebral column", + "tissue", + "abnormal axial skeleton plus cranial skeleton morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal oral cavity morphology", + "telencephalon", + "vertebral column", + "Abnormal bone structure", + "abnormal vertebral column", + "erythrocyte", + "organ system subdivision", + "Abnormality of the anus", + "regulation of macromolecule metabolic process", + "Abnormality of the digestive system", + "anus", + "protein-DNA complex organization", + "Abnormal anus morphology", + "DNA metabolic process", + "orifice", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "immaterial anatomical entity", + "anus atresia", + "sensory system", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Aplasia/Hypoplasia of the cerebrum", + "Chiari type I malformation", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "Metazoa" ], "has_phenotype_count": 18, "highlight": null, diff --git a/frontend/fixtures/histopheno.json b/frontend/fixtures/histopheno.json index 51e9674ea..0d3c5a6d1 100644 --- a/frontend/fixtures/histopheno.json +++ b/frontend/fixtures/histopheno.json @@ -3,12 +3,12 @@ "items": [ { "label": "musculature", - "count": 1709, + "count": 1723, "id": "UPHENO:0002816" }, { "label": "nervous_system", - "count": 1088, + "count": 1089, "id": "UPHENO:0004523" }, { @@ -18,7 +18,7 @@ }, { "label": "skeletal_system", - "count": 472, + "count": 479, "id": "UPHENO:0002964" }, { @@ -28,7 +28,7 @@ }, { "label": "metabolism_homeostasis", - "count": 222, + "count": 223, "id": "HP:0001939" }, { @@ -38,12 +38,12 @@ }, { "label": "blood", - "count": 179, + "count": 180, "id": "UPHENO:0004459" }, { "label": "connective_tissue", - "count": 162, + "count": 166, "id": "UPHENO:0002712" }, { diff --git a/frontend/fixtures/mappings.json b/frontend/fixtures/mappings.json index 5037f9914..df010ea58 100644 --- a/frontend/fixtures/mappings.json +++ b/frontend/fixtures/mappings.json @@ -1,7 +1,7 @@ { "limit": 20, "offset": 0, - "total": 7, + "total": 14, "items": [ { "subject_id": "MONDO:0020121", @@ -10,7 +10,7 @@ "object_id": "DOID:9884", "object_label": "muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "35dd4712-cbd1-48ca-9ea8-76fc64fd64c6" + "id": "e118a569-aef9-4406-a56e-26c0cce23832" }, { "subject_id": "MONDO:0020121", @@ -19,7 +19,7 @@ "object_id": "ICD10CM:G71.0", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "6993b2bc-dcb1-46a9-a1e7-a7f13538f348" + "id": "c019bafb-05f0-4e88-a872-213dc1cbadf8" }, { "subject_id": "MONDO:0020121", @@ -28,7 +28,7 @@ "object_id": "NCIT:C84910", "object_label": "Muscular Dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "c316e0c5-432c-4d78-aaee-9e021759557f" + "id": "409672f9-0244-46db-b53e-5a941daecf79" }, { "subject_id": "MONDO:0020121", @@ -37,7 +37,7 @@ "object_id": "Orphanet:98473", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "83793e01-bce0-4bdf-a124-addbef4ba50a" + "id": "e03a2881-54f2-484a-927b-c90557ddf4fa" }, { "subject_id": "MONDO:0020121", @@ -46,7 +46,7 @@ "object_id": "SCTID:73297009", "object_label": null, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "b56db466-9225-4e9c-97ab-8937bc6e29be" + "id": "25ff5a19-ae6b-4d3d-a57e-f8087f435cb7" }, { "subject_id": "MONDO:0020121", @@ -55,7 +55,7 @@ "object_id": "UMLS:C0026850", "object_label": null, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "f41a4f1a-9898-4452-bbd9-39e028189279" + "id": "9edb04c4-fcd6-4b0d-a2ea-b2812c3ae7d3" }, { "subject_id": "MONDO:0020121", @@ -64,7 +64,70 @@ "object_id": "MESH:D009136", "object_label": null, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "3dea3a7b-16c5-467a-8976-808f74fce04d" + "id": "ca9265de-6da9-46b2-9d90-18b7fc56d874" + }, + { + "subject_id": "MONDO:0020121", + "subject_label": "muscular dystrophy", + "predicate_id": "skos:exactMatch", + "object_id": "DOID:9884", + "object_label": "muscular dystrophy", + "mapping_justification": "semapv:UnspecifiedMatching", + "id": "5d822e16-51fe-4ab9-a15d-2319b883d96e" + }, + { + "subject_id": "MONDO:0020121", + "subject_label": "muscular dystrophy", + "predicate_id": "skos:exactMatch", + "object_id": "ICD10CM:G71.0", + "object_label": "Muscular dystrophy", + "mapping_justification": "semapv:UnspecifiedMatching", + "id": "9ed03b0f-bf8d-41be-b21e-5cd47203dc8a" + }, + { + "subject_id": "MONDO:0020121", + "subject_label": "muscular dystrophy", + "predicate_id": "skos:exactMatch", + "object_id": "NCIT:C84910", + "object_label": "Muscular Dystrophy", + "mapping_justification": "semapv:UnspecifiedMatching", + "id": "c94c80d9-67cb-4c8c-9855-445c493e6b09" + }, + { + "subject_id": "MONDO:0020121", + "subject_label": "muscular dystrophy", + "predicate_id": "skos:exactMatch", + "object_id": "Orphanet:98473", + "object_label": "Muscular dystrophy", + "mapping_justification": "semapv:UnspecifiedMatching", + "id": "493dfdf8-e149-4287-9522-1f123af2428b" + }, + { + "subject_id": "MONDO:0020121", + "subject_label": "muscular dystrophy", + "predicate_id": "skos:exactMatch", + "object_id": "SCTID:73297009", + "object_label": null, + "mapping_justification": "semapv:UnspecifiedMatching", + "id": "223f9ee1-c176-4355-bc8f-22cec80116ea" + }, + { + "subject_id": "MONDO:0020121", + "subject_label": "muscular dystrophy", + "predicate_id": "skos:exactMatch", + "object_id": "UMLS:C0026850", + "object_label": null, + "mapping_justification": "semapv:UnspecifiedMatching", + "id": "d7d48a1f-1325-45d7-b9af-35f74f4e796f" + }, + { + "subject_id": "MONDO:0020121", + "subject_label": "muscular dystrophy", + "predicate_id": "skos:exactMatch", + "object_id": "MESH:D009136", + "object_label": null, + "mapping_justification": "semapv:UnspecifiedMatching", + "id": "e10a82df-8a83-4ca4-8591-8c00c556c228" } ] } diff --git a/frontend/fixtures/node.json b/frontend/fixtures/node.json index e48d9b718..59e8b0471 100644 --- a/frontend/fixtures/node.json +++ b/frontend/fixtures/node.json @@ -37,6 +37,34 @@ "causal_gene": [], "causes_disease": [], "mappings": [ + { + "id": "DOID:9884", + "url": "http://purl.obolibrary.org/obo/DOID_9884" + }, + { + "id": "ICD10CM:G71.0", + "url": "https://icd.codes/icd10cm/G71.0" + }, + { + "id": "NCIT:C84910", + "url": "http://purl.obolibrary.org/obo/NCIT_C84910" + }, + { + "id": "Orphanet:98473", + "url": "https://www.orpha.net/en/disease/detail/98473" + }, + { + "id": "SCTID:73297009", + "url": "http://identifiers.org/snomedct/73297009" + }, + { + "id": "UMLS:C0026850", + "url": "http://identifiers.org/umls/C0026850" + }, + { + "id": "MESH:D009136", + "url": "http://identifiers.org/mesh/D009136" + }, { "id": "DOID:9884", "url": "http://purl.obolibrary.org/obo/DOID_9884" @@ -127,7 +155,7 @@ "association_counts": [ { "label": "Phenotype to Disease", - "count": 3941, + "count": 3959, "category": "biolink:DiseaseToPhenotypicFeatureAssociation" }, { @@ -139,42 +167,10 @@ "label": "Correlated Gene", "count": 146, "category": "biolink:CorrelatedGeneToDiseaseAssociation" - }, - { - "label": "Variant to Disease", - "count": 1, - "category": "biolink:VariantToDiseaseAssociation" - }, - { - "label": "Disease Model", - "count": 243, - "category": "biolink:GenotypeToDiseaseAssociation" } ], "node_hierarchy": { "super_classes": [ - { - "id": "MONDO:0005336", - "category": "biolink:Disease", - "name": "myopathy", - "full_name": null, - "deprecated": null, - "description": null, - "xref": [], - "provided_by": null, - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": [], - "uri": null, - "iri": null, - "namespace": null, - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": null - }, { "id": "MONDO:0100546", "category": "biolink:Disease", @@ -218,13 +214,11 @@ "has_phenotype_closure": [], "has_phenotype_closure_label": [], "has_phenotype_count": null - } - ], - "sub_classes": [ + }, { - "id": "MONDO:0008028", + "id": "MONDO:0005336", "category": "biolink:Disease", - "name": "muscular dystrophy, Barnes type", + "name": "myopathy", "full_name": null, "deprecated": null, "description": null, @@ -242,7 +236,9 @@ "has_phenotype_closure": [], "has_phenotype_closure_label": [], "has_phenotype_count": null - }, + } + ], + "sub_classes": [ { "id": "MONDO:0010311", "category": "biolink:Disease", @@ -484,6 +480,28 @@ "has_phenotype_closure": [], "has_phenotype_closure_label": [], "has_phenotype_count": null + }, + { + "id": "MONDO:0008028", + "category": "biolink:Disease", + "name": "muscular dystrophy, Barnes type", + "full_name": null, + "deprecated": null, + "description": null, + "xref": [], + "provided_by": null, + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [], + "uri": null, + "iri": null, + "namespace": null, + "has_phenotype": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": null } ] } diff --git a/frontend/fixtures/phenotype-explorer-multi-compare.json b/frontend/fixtures/phenotype-explorer-multi-compare.json index f0fe72e64..4cd43335f 100644 --- a/frontend/fixtures/phenotype-explorer-multi-compare.json +++ b/frontend/fixtures/phenotype-explorer-multi-compare.json @@ -22,24 +22,37 @@ "has_phenotype_closure_label": [], "has_phenotype_count": null }, - "score": 8.608834726850041, + "score": 8.60883472685004, "similarity": { "subject_termset": { - "HP:0002616": { "id": "HP:0002616", "label": "Aortic root aneurysm" }, "HP:0001763": { "id": "HP:0001763", "label": "Pes planus" }, + "HP:0001533": { "id": "HP:0001533", "label": "Slender build" }, + "HP:0002616": { "id": "HP:0002616", "label": "Aortic root aneurysm" }, + "HP:0012450": { "id": "HP:0012450", "label": "Chronic constipation" }, "HP:0002020": { "id": "HP:0002020", "label": "Gastroesophageal reflux" }, - "HP:0001533": { "id": "HP:0001533", "label": "Slender build" }, "HP:0004944": { "id": "HP:0004944", "label": "Dilatation of the cerebral artery" }, - "HP:0010749": { "id": "HP:0010749", "label": "Blepharochalasis" }, - "HP:0012450": { "id": "HP:0012450", "label": "Chronic constipation" } + "HP:0010749": { "id": "HP:0010749", "label": "Blepharochalasis" } }, "object_termset": { + "MP:0003731": { + "id": "MP:0003731", + "label": "abnormal retina outer nuclear layer morphology" + }, + "MP:0011965": { + "id": "MP:0011965", + "label": "decreased total retina thickness" + }, + "MP:0011960": { + "id": "MP:0011960", + "label": "abnormal eye anterior chamber depth" + }, + "MP:0002834": { "id": "MP:0002834", "label": "decreased heart weight" }, "MP:0001262": { "id": "MP:0001262", "label": "decreased body weight" }, "MP:0011962": { "id": "MP:0011962", @@ -49,30 +62,17 @@ "id": "MP:0003291", "label": "interstinal hyperperistalsis" }, - "MP:0002834": { "id": "MP:0002834", "label": "decreased heart weight" }, - "MP:0011960": { - "id": "MP:0011960", - "label": "abnormal eye anterior chamber depth" - }, - "MP:0011965": { - "id": "MP:0011965", - "label": "decreased total retina thickness" - }, "MP:0008489": { "id": "MP:0008489", "label": "slow postnatal weight gain" - }, - "MP:0003731": { - "id": "MP:0003731", - "label": "abnormal retina outer nuclear layer morphology" } }, "subject_best_matches": { "HP:0001533": { "match_source": "HP:0001533", "match_source_label": "Slender build", - "match_target": "MP:0001262", - "match_target_label": "decreased body weight", + "match_target": "MP:0008489", + "match_target_label": "slow postnatal weight gain", "score": 13.667892510789482, "match_subsumer": null, "match_subsumer_label": null, @@ -80,7 +80,7 @@ "subject_id": "HP:0001533", "subject_label": null, "subject_source": null, - "object_id": "MP:0001262", + "object_id": "MP:0008489", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0054299", @@ -89,18 +89,18 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 13.667892510789482, - "jaccard_similarity": 0.40384615384615385, + "jaccard_similarity": 0.38333333333333336, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 2.34940967514501 + "phenodigm_score": 2.2889645684900053 }, "score_metric": "ancestor_information_content" }, "HP:0001763": { "match_source": "HP:0001763", "match_source_label": "Pes planus", - "match_target": "MP:0002834", - "match_target_label": "decreased heart weight", + "match_target": "MP:0008489", + "match_target_label": "slow postnatal weight gain", "score": 3.066606173373863, "match_subsumer": null, "match_subsumer_label": null, @@ -108,7 +108,7 @@ "subject_id": "HP:0001763", "subject_label": null, "subject_source": null, - "object_id": "MP:0002834", + "object_id": "MP:0008489", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0015280", @@ -117,10 +117,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 3.066606173373863, - "jaccard_similarity": 0.203125, + "jaccard_similarity": 0.17567567567567569, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 0.7892429150563 + "phenodigm_score": 0.7339810021646689 }, "score_metric": "ancestor_information_content" }, @@ -281,8 +281,8 @@ "object_id": "HP:0001533", "object_label": null, "object_source": null, - "ancestor_id": "UPHENO:0054299", - "ancestor_label": "decreased multicellular organism mass", + "ancestor_id": "UPHENO:0082794", + "ancestor_label": "Decreased multicellular organism mass", "ancestor_source": null, "object_information_content": null, "subject_information_content": null, @@ -309,8 +309,8 @@ "object_id": "HP:0001533", "object_label": null, "object_source": null, - "ancestor_id": "UPHENO:0082761", - "ancestor_label": "Decreased anatomical entity mass", + "ancestor_id": "UPHENO:0054261", + "ancestor_label": "decreased anatomical entity mass", "ancestor_source": null, "object_information_content": null, "subject_information_content": null, @@ -491,7 +491,7 @@ "score_metric": "ancestor_information_content" } }, - "average_score": 8.608834726850041, + "average_score": 8.60883472685004, "best_score": 13.667892510789482, "metric": "AncestorInformationContent" } @@ -522,51 +522,51 @@ "score": 7.343905449061466, "similarity": { "subject_termset": { - "HP:0001763": { "id": "HP:0001763", "label": "Pes planus" }, - "HP:0001533": { "id": "HP:0001533", "label": "Slender build" }, "HP:0004944": { "id": "HP:0004944", "label": "Dilatation of the cerebral artery" }, - "HP:0012450": { "id": "HP:0012450", "label": "Chronic constipation" }, "HP:0010749": { "id": "HP:0010749", "label": "Blepharochalasis" }, + "HP:0001763": { "id": "HP:0001763", "label": "Pes planus" }, + "HP:0012450": { "id": "HP:0012450", "label": "Chronic constipation" }, "HP:0002616": { "id": "HP:0002616", "label": "Aortic root aneurysm" }, + "HP:0001533": { "id": "HP:0001533", "label": "Slender build" }, "HP:0002020": { "id": "HP:0002020", "label": "Gastroesophageal reflux" } }, "object_termset": { - "MP:0000230": { - "id": "MP:0000230", - "label": "abnormal systemic arterial blood pressure" - }, "MP:0000272": { "id": "MP:0000272", "label": "abnormal aorta morphology" }, - "MP:0002834": { "id": "MP:0002834", "label": "decreased heart weight" }, "MP:0003070": { "id": "MP:0003070", "label": "increased vascular permeability" }, + "MP:0000230": { + "id": "MP:0000230", + "label": "abnormal systemic arterial blood pressure" + }, "MP:0003026": { "id": "MP:0003026", "label": "decreased vasoconstriction" }, - "MP:0004021": { - "id": "MP:0004021", - "label": "abnormal rod electrophysiology" + "MP:0004022": { + "id": "MP:0004022", + "label": "abnormal cone electrophysiology" }, "MP:0009862": { "id": "MP:0009862", "label": "abnormal aorta elastic tissue morphology" }, - "MP:0004022": { - "id": "MP:0004022", - "label": "abnormal cone electrophysiology" - }, "MP:0000233": { "id": "MP:0000233", "label": "abnormal blood flow velocity" }, + "MP:0002834": { "id": "MP:0002834", "label": "decreased heart weight" }, + "MP:0004021": { + "id": "MP:0004021", + "label": "abnormal rod electrophysiology" + }, "MP:0006264": { "id": "MP:0006264", "label": "decreased systemic arterial systolic blood pressure" @@ -632,8 +632,8 @@ "HP:0002020": { "match_source": "HP:0002020", "match_source_label": "Gastroesophageal reflux", - "match_target": "MP:0003070", - "match_target_label": "increased vascular permeability", + "match_target": "MP:0000233", + "match_target_label": "abnormal blood flow velocity", "score": 5.132448071645384, "match_subsumer": null, "match_subsumer_label": null, @@ -641,7 +641,7 @@ "subject_id": "HP:0002020", "subject_label": null, "subject_source": null, - "object_id": "MP:0003070", + "object_id": "MP:0000233", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0002332", @@ -650,10 +650,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 5.132448071645384, - "jaccard_similarity": 0.26666666666666666, + "jaccard_similarity": 0.3157894736842105, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.1698943623701397 + "phenodigm_score": 1.273095862555698 }, "score_metric": "ancestor_information_content" }, @@ -744,8 +744,8 @@ "HP:0012450": { "match_source": "HP:0012450", "match_source_label": "Chronic constipation", - "match_target": "MP:0000230", - "match_target_label": "abnormal systemic arterial blood pressure", + "match_target": "MP:0004022", + "match_target_label": "abnormal cone electrophysiology", "score": 5.132448071645384, "match_subsumer": null, "match_subsumer_label": null, @@ -753,7 +753,7 @@ "subject_id": "HP:0012450", "subject_label": null, "subject_source": null, - "object_id": "MP:0000230", + "object_id": "MP:0004022", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0002332", @@ -762,10 +762,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 5.132448071645384, - "jaccard_similarity": 0.4, + "jaccard_similarity": 0.36363636363636365, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.4328221203827618 + "phenodigm_score": 1.3661422888285077 }, "score_metric": "ancestor_information_content" } @@ -802,8 +802,8 @@ "MP:0000233": { "match_source": "MP:0000233", "match_source_label": "abnormal blood flow velocity", - "match_target": "HP:0002616", - "match_target_label": "Aortic root aneurysm", + "match_target": "HP:0004944", + "match_target_label": "Dilatation of the cerebral artery", "score": 7.3467487024345575, "match_subsumer": null, "match_subsumer_label": null, @@ -811,7 +811,7 @@ "subject_id": "MP:0000233", "subject_label": null, "subject_source": null, - "object_id": "HP:0002616", + "object_id": "HP:0004944", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0080362", @@ -820,10 +820,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 7.3467487024345575, - "jaccard_similarity": 0.23404255319148937, + "jaccard_similarity": 0.18333333333333332, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.311278698055469 + "phenodigm_score": 1.160561902174834 }, "score_metric": "ancestor_information_content" }, diff --git a/frontend/fixtures/phenotype-explorer-search.json b/frontend/fixtures/phenotype-explorer-search.json index d9c95e4a5..7fda53bb4 100644 --- a/frontend/fixtures/phenotype-explorer-search.json +++ b/frontend/fixtures/phenotype-explorer-search.json @@ -31,60 +31,60 @@ "has_phenotype": ["ZP:0018569"], "has_phenotype_label": ["myeloid cell development absent, abnormal"], "has_phenotype_closure": [ - "BFO:0000003", - "UPHENO:0001005", - "GO:0030154", - "GO:0008150", - "ZP:0131284", - "GO:0032502", - "UPHENO:0034024", + "GO:0061515", "ZP:0014956", - "ZP:00000000", - "GO:0048468", + "GO:0030099", + "GO:0030097", + "UPHENO:0001003", + "BFO:0000015", + "UPHENO:0034024", + "BFO:0000020", "ZP:0018569", - "UPHENO:0001002", "BFO:0000001", - "GO:0061515", - "GO:0048856", - "GO:0030099", + "PATO:0000001", + "GO:0009987", + "UPHENO:0001005", "GO:0048869", - "UPHENO:0001001", - "BFO:0000015", "BFO:0000002", - "GO:0030097", + "BFO:0000003", + "GO:0048856", + "UPHENO:0001001", + "GO:0008150", + "ZP:0131284", "UPHENO:0078513", - "GO:0009987", - "BFO:0000020", - "UPHENO:0001003", - "PATO:0000001" + "GO:0030154", + "GO:0032502", + "ZP:00000000", + "GO:0048468", + "UPHENO:0001002" ], "has_phenotype_closure_label": [ - "cellular process", - "biological_process", + "developmental process", + "myeloid cell development absent, abnormal", + "myeloid cell differentiation", + "hemopoiesis", + "anatomical structure development", + "hemopoiesis quality, abnormal", + "quality", "phenotype by ontology source", "phenotype", - "specifically dependent continuant", "abnormal phenotype by ontology source", - "quality", - "cell differentiation", - "cell development", + "cellular developmental process", + "specifically dependent continuant", + "myeloid cell development", "entity", - "anatomical structure development", - "myeloid cell development absent, abnormal", + "biological_process", "continuant", - "cellular developmental process", - "occurrent", "Phenotypic abnormality", - "biological_process quality, abnormal", - "hemopoiesis", - "myeloid cell differentiation", - "Zebrafish Phenotype", - "hemopoiesis quality, abnormal", - "myeloid cell development", - "absent myeloid cell development", + "occurrent", "process", - "developmental process", - "absent biological_process" + "Zebrafish Phenotype", + "biological_process quality, abnormal", + "cell development", + "cell differentiation", + "absent biological_process", + "cellular process", + "absent myeloid cell development" ], "has_phenotype_count": 1 }, @@ -202,6 +202,7 @@ "deprecated": null, "description": null, "xref": [ + "NCBIGene:570228", "UniProtKB:A0A8M2B905", "ZFIN:ZDB-GENE-050208-773", "UniProtKB:A0A8M2B8P0", @@ -223,91 +224,91 @@ "primitive hemopoiesis absent, abnormal" ], "has_phenotype_closure": [ + "GO:0007275", "GO:0060215", - "GO:0009790", - "GO:0032501", - "BFO:0000003", - "UPHENO:0001005", - "GO:0030154", "GO:0048513", + "GO:0009790", + "UPHENO:0001002", + "GO:0035162", + "ZP:00000000", + "UPHENO:0078513", "GO:0008150", "ZP:0131284", + "GO:0048856", "GO:0032502", - "UPHENO:0034024", - "ZP:0014956", - "ZP:00000000", - "GO:0035162", - "GO:0048468", - "ZP:0018569", - "UPHENO:0001002", - "BFO:0000001", - "GO:0061515", + "BFO:0000003", "UPHENO:0078511", - "GO:0048856", - "GO:0030099", - "GO:0048869", - "UPHENO:0001001", - "BFO:0000015", "BFO:0000002", - "GO:0030097", - "UPHENO:0078513", + "UPHENO:0001005", + "GO:0048468", + "GO:0030154", "GO:0009987", - "GO:0048568", + "PATO:0000001", + "BFO:0000001", + "ZP:0018568", + "UPHENO:0001001", + "ZP:0018569", "BFO:0000020", - "GO:0007275", + "UPHENO:0034024", + "BFO:0000015", "UPHENO:0001003", - "ZP:0018568", - "PATO:0000001" + "GO:0048869", + "GO:0030099", + "GO:0048568", + "ZP:0014956", + "GO:0061515", + "GO:0030097", + "GO:0032501" ], "has_phenotype_closure_label": [ - "multicellular organism development", - "embryo development", - "primitive hemopoiesis absent, abnormal", "embryonic hemopoiesis", + "multicellular organismal process", + "animal organ development", + "embryo development", + "absent myeloid cell development", "cellular process", + "absent biological_process", + "cell development", + "embryonic organ development", + "biological_process quality, abnormal", + "process", + "Zebrafish Phenotype", + "Phenotypic abnormality", + "continuant", "biological_process", - "phenotype by ontology source", - "phenotype", + "entity", + "myeloid cell development", "specifically dependent continuant", + "cellular developmental process", + "cell differentiation", + "absent primitive hemopoiesis", "abnormal phenotype by ontology source", + "occurrent", + "phenotype by ontology source", + "phenotype", "quality", - "cell differentiation", - "cell development", - "multicellular organismal process", - "entity", + "hemopoiesis quality, abnormal", + "primitive hemopoiesis absent, abnormal", "anatomical structure development", - "primitive hemopoiesis", - "myeloid cell development absent, abnormal", - "continuant", - "cellular developmental process", - "occurrent", - "Phenotypic abnormality", - "biological_process quality, abnormal", "hemopoiesis", "myeloid cell differentiation", - "Zebrafish Phenotype", - "hemopoiesis quality, abnormal", - "animal organ development", - "myeloid cell development", - "absent myeloid cell development", - "embryonic organ development", - "process", - "absent primitive hemopoiesis", "developmental process", - "absent biological_process" + "multicellular organism development", + "myeloid cell development absent, abnormal", + "primitive hemopoiesis" ], "has_phenotype_count": 2 }, "score": 7.011754466426716, "similarity": { "subject_termset": { - "ZP:0018569": { - "id": "ZP:0018569", - "label": "myeloid cell development absent, abnormal" - }, "ZP:0018568": { "id": "ZP:0018568", "label": "primitive hemopoiesis absent, abnormal" + }, + "ZP:0018569": { + "id": "ZP:0018569", + "label": "myeloid cell development absent, abnormal" } }, "object_termset": { @@ -465,77 +466,77 @@ ], "has_phenotype_closure": [ "GO:0061515", - "GO:0030099", "UPHENO:0078513", - "GO:0060215", - "BFO:0000003", - "UPHENO:0001005", - "GO:0030154", - "PATO:0000001", - "ZP:0018568", "GO:0009790", - "GO:0048513", + "ZP:0018569", + "UPHENO:0001001", "GO:0008150", "ZP:0131284", - "GO:0032502", - "UPHENO:0034024", - "ZP:0014956", "GO:0048856", + "GO:0060215", + "BFO:0000001", + "ZP:0018568", + "PATO:0000001", + "GO:0032502", + "BFO:0000003", "UPHENO:0078511", - "GO:0048468", - "GO:0035162", - "ZP:0018569", - "UPHENO:0001002", - "BFO:0000020", - "GO:0048568", "BFO:0000002", - "GO:0030097", + "GO:0030099", "GO:0048869", - "UPHENO:0001001", - "BFO:0000015", + "UPHENO:0001005", + "GO:0048513", "UPHENO:0001003", - "GO:0007275", "GO:0032501", + "GO:0030097", + "UPHENO:0001002", + "GO:0035162", "ZP:00000000", - "BFO:0000001", - "GO:0009987" + "GO:0009987", + "GO:0048468", + "GO:0030154", + "BFO:0000020", + "GO:0007275", + "UPHENO:0034024", + "BFO:0000015", + "GO:0048568", + "ZP:0014956" ], "has_phenotype_closure_label": [ - "absent myeloid cell development", - "continuant", - "biological_process", - "anatomical structure development", - "specifically dependent continuant", "myeloid cell development", + "myeloid cell differentiation", + "absent myeloid cell development", + "embryonic hemopoiesis", + "developmental process", + "absent biological_process", + "embryo development", "animal organ development", + "entity", "cell development", - "abnormal phenotype by ontology source", - "quality", - "cell differentiation", - "process", + "continuant", + "biological_process", + "multicellular organismal process", + "myeloid cell development absent, abnormal", + "primitive hemopoiesis", + "biological_process quality, abnormal", "embryonic organ development", - "phenotype", - "phenotype by ontology source", + "process", + "multicellular organism development", + "Zebrafish Phenotype", "Phenotypic abnormality", + "cellular process", + "specifically dependent continuant", "cellular developmental process", + "cell differentiation", + "absent primitive hemopoiesis", + "abnormal phenotype by ontology source", "occurrent", - "multicellular organism development", - "multicellular organismal process", - "entity", - "biological_process quality, abnormal", - "cellular process", - "embryonic hemopoiesis", - "myeloid cell development absent, abnormal", - "primitive hemopoiesis", + "phenotype by ontology source", + "phenotype", + "quality", + "hemopoiesis quality, abnormal", "primitive hemopoiesis absent, abnormal", - "embryo development", - "absent primitive hemopoiesis", - "developmental process", - "absent biological_process", - "myeloid cell differentiation", - "Zebrafish Phenotype", - "hemopoiesis", - "hemopoiesis quality, abnormal" + "anatomical structure development", + "hemopoiesis" ], "has_phenotype_count": 2 }, @@ -685,15 +686,16 @@ "deprecated": null, "description": null, "xref": [ - "UniProtKB:A0A8M3BE19", - "ZFIN:ZDB-GENE-121214-344", - "UniProtKB:A0A8M6Z3J7", "UniProtKB:A0A8M3AY68", - "UniProtKB:A0A8M3AY42", "ENSEMBL:ENSDARG00000079939", - "UniProtKB:A0A8M3B798", + "UniProtKB:A0A8M3AY42", "PANTHER:PTHR12549", "UniProtKB:A0A8M2B2Y5", + "UniProtKB:A0A8M3BE19", + "ZFIN:ZDB-GENE-121214-344", + "UniProtKB:A0A8M6Z3J7", + "UniProtKB:A0A8M3B798", + "NCBIGene:558436", "UniProtKB:A0A8M3B4G8", "UniProtKB:A0A8M2B2R0" ], @@ -705,102 +707,102 @@ "uri": "https://identifiers.org/zfin/ZDB-GENE-121214-344", "iri": null, "namespace": "ZFIN", - "has_phenotype": ["ZP:0018569", "ZP:0018568"], + "has_phenotype": ["ZP:0018568", "ZP:0018569"], "has_phenotype_label": [ - "myeloid cell development absent, abnormal", - "primitive hemopoiesis absent, abnormal" + "primitive hemopoiesis absent, abnormal", + "myeloid cell development absent, abnormal" ], "has_phenotype_closure": [ - "GO:0060215", + "GO:0061515", + "UPHENO:0078513", "GO:0009790", - "GO:0032501", - "BFO:0000003", - "UPHENO:0001005", - "GO:0030154", - "GO:0048513", + "ZP:0018569", + "UPHENO:0001001", "GO:0008150", "ZP:0131284", - "GO:0032502", - "UPHENO:0034024", - "ZP:0014956", - "ZP:00000000", - "GO:0035162", - "GO:0048468", - "ZP:0018569", - "UPHENO:0001002", + "GO:0048856", + "GO:0060215", "BFO:0000001", - "GO:0061515", + "ZP:0018568", + "PATO:0000001", + "GO:0032502", + "BFO:0000003", "UPHENO:0078511", - "GO:0048856", + "BFO:0000002", "GO:0030099", "GO:0048869", - "UPHENO:0001001", - "BFO:0000015", - "BFO:0000002", + "UPHENO:0001005", + "GO:0048513", + "UPHENO:0001003", + "GO:0032501", "GO:0030097", - "UPHENO:0078513", + "UPHENO:0001002", + "GO:0035162", + "ZP:00000000", "GO:0009987", - "GO:0048568", + "GO:0048468", + "GO:0030154", "BFO:0000020", "GO:0007275", - "UPHENO:0001003", - "ZP:0018568", - "PATO:0000001" + "UPHENO:0034024", + "BFO:0000015", + "GO:0048568", + "ZP:0014956" ], "has_phenotype_closure_label": [ - "multicellular organism development", - "embryo development", - "primitive hemopoiesis absent, abnormal", + "myeloid cell development", + "myeloid cell differentiation", + "absent myeloid cell development", "embryonic hemopoiesis", - "cellular process", - "biological_process", - "phenotype by ontology source", - "phenotype", - "specifically dependent continuant", - "abnormal phenotype by ontology source", - "quality", - "cell differentiation", + "developmental process", + "absent biological_process", + "embryo development", + "animal organ development", + "entity", "cell development", + "continuant", + "biological_process", "multicellular organismal process", - "entity", - "anatomical structure development", - "primitive hemopoiesis", "myeloid cell development absent, abnormal", - "continuant", - "cellular developmental process", - "occurrent", - "Phenotypic abnormality", + "primitive hemopoiesis", "biological_process quality, abnormal", - "hemopoiesis", - "myeloid cell differentiation", - "Zebrafish Phenotype", - "hemopoiesis quality, abnormal", - "animal organ development", - "myeloid cell development", - "absent myeloid cell development", "embryonic organ development", "process", + "multicellular organism development", + "Zebrafish Phenotype", + "Phenotypic abnormality", + "cellular process", + "specifically dependent continuant", + "cellular developmental process", + "cell differentiation", "absent primitive hemopoiesis", - "developmental process", - "absent biological_process" + "abnormal phenotype by ontology source", + "occurrent", + "phenotype by ontology source", + "phenotype", + "quality", + "hemopoiesis quality, abnormal", + "primitive hemopoiesis absent, abnormal", + "anatomical structure development", + "hemopoiesis" ], "has_phenotype_count": 2 }, "score": 7.011754466426716, "similarity": { "subject_termset": { - "ZP:0018569": { - "id": "ZP:0018569", - "label": "myeloid cell development absent, abnormal" - }, "ZP:0018568": { "id": "ZP:0018568", "label": "primitive hemopoiesis absent, abnormal" + }, + "ZP:0018569": { + "id": "ZP:0018569", + "label": "myeloid cell development absent, abnormal" } }, "object_termset": { - "HP:0002104": { "id": "HP:0002104", "label": "Apnea" }, - "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" } + "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" }, + "HP:0002104": { "id": "HP:0002104", "label": "Apnea" } }, "subject_best_matches": { "ZP:0018568": { @@ -864,8 +866,8 @@ "HP:0002104": { "match_source": "HP:0002104", "match_source_label": "Apnea", - "match_target": "ZP:0018568", - "match_target_label": "primitive hemopoiesis absent, abnormal", + "match_target": "ZP:0018569", + "match_target_label": "myeloid cell development absent, abnormal", "score": 8.79057503056431, "match_subsumer": null, "match_subsumer_label": null, @@ -873,7 +875,7 @@ "subject_id": "HP:0002104", "subject_label": null, "subject_source": null, - "object_id": "ZP:0018568", + "object_id": "ZP:0018569", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0034024", @@ -953,84 +955,84 @@ "uri": "https://identifiers.org/zfin/ZDB-GENE-040426-2142", "iri": null, "namespace": "ZFIN", - "has_phenotype": ["ZP:0018568", "ZP:0018569"], + "has_phenotype": ["ZP:0018569", "ZP:0018568"], "has_phenotype_label": [ - "primitive hemopoiesis absent, abnormal", - "myeloid cell development absent, abnormal" + "myeloid cell development absent, abnormal", + "primitive hemopoiesis absent, abnormal" ], "has_phenotype_closure": [ - "GO:0061515", - "GO:0030099", - "UPHENO:0078513", + "GO:0007275", "GO:0060215", - "BFO:0000003", - "UPHENO:0001005", - "GO:0030154", - "PATO:0000001", - "ZP:0018568", - "GO:0009790", "GO:0048513", + "GO:0009790", + "UPHENO:0001002", + "GO:0035162", + "ZP:00000000", + "UPHENO:0078513", "GO:0008150", "ZP:0131284", - "GO:0032502", - "UPHENO:0034024", - "ZP:0014956", "GO:0048856", + "GO:0032502", + "BFO:0000003", "UPHENO:0078511", + "BFO:0000002", + "UPHENO:0001005", "GO:0048468", - "GO:0035162", + "GO:0030154", + "GO:0009987", + "PATO:0000001", + "BFO:0000001", + "ZP:0018568", + "UPHENO:0001001", "ZP:0018569", - "UPHENO:0001002", "BFO:0000020", - "GO:0048568", - "BFO:0000002", - "GO:0030097", - "GO:0048869", - "UPHENO:0001001", + "UPHENO:0034024", "BFO:0000015", "UPHENO:0001003", - "GO:0007275", - "GO:0032501", - "ZP:00000000", - "BFO:0000001", - "GO:0009987" + "GO:0048869", + "GO:0030099", + "GO:0048568", + "ZP:0014956", + "GO:0061515", + "GO:0030097", + "GO:0032501" ], "has_phenotype_closure_label": [ - "absent myeloid cell development", - "continuant", - "biological_process", - "anatomical structure development", - "specifically dependent continuant", - "myeloid cell development", + "embryonic hemopoiesis", + "multicellular organismal process", "animal organ development", + "embryo development", + "absent myeloid cell development", + "cellular process", + "absent biological_process", "cell development", - "abnormal phenotype by ontology source", - "quality", - "cell differentiation", - "process", "embryonic organ development", - "phenotype", - "phenotype by ontology source", + "biological_process quality, abnormal", + "process", + "Zebrafish Phenotype", "Phenotypic abnormality", + "continuant", + "biological_process", + "entity", + "myeloid cell development", + "specifically dependent continuant", "cellular developmental process", + "cell differentiation", + "absent primitive hemopoiesis", + "abnormal phenotype by ontology source", "occurrent", - "multicellular organism development", - "multicellular organismal process", - "entity", - "biological_process quality, abnormal", - "cellular process", - "embryonic hemopoiesis", - "myeloid cell development absent, abnormal", - "primitive hemopoiesis", + "phenotype by ontology source", + "phenotype", + "quality", + "hemopoiesis quality, abnormal", "primitive hemopoiesis absent, abnormal", - "embryo development", - "absent primitive hemopoiesis", - "developmental process", - "absent biological_process", - "myeloid cell differentiation", - "Zebrafish Phenotype", + "anatomical structure development", "hemopoiesis", - "hemopoiesis quality, abnormal" + "myeloid cell differentiation", + "developmental process", + "multicellular organism development", + "myeloid cell development absent, abnormal", + "primitive hemopoiesis" ], "has_phenotype_count": 2 }, @@ -1140,8 +1142,8 @@ "HP:0012378": { "match_source": "HP:0012378", "match_source_label": "Fatigue", - "match_target": "ZP:0018569", - "match_target_label": "myeloid cell development absent, abnormal", + "match_target": "ZP:0018568", + "match_target_label": "primitive hemopoiesis absent, abnormal", "score": 1.6752927740139332, "match_subsumer": null, "match_subsumer_label": null, @@ -1149,7 +1151,7 @@ "subject_id": "HP:0012378", "subject_label": null, "subject_source": null, - "object_id": "ZP:0018569", + "object_id": "ZP:0018568", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0001005", @@ -1188,172 +1190,172 @@ "uri": "https://identifiers.org/zfin/ZDB-GENE-070117-2249", "iri": null, "namespace": "ZFIN", - "has_phenotype": ["ZP:0100294", "ZP:0000945"], + "has_phenotype": ["ZP:0000945", "ZP:0100294"], "has_phenotype_label": [ - "visual perception absent, abnormal", - "pigment cell quality, abnormal" + "pigment cell quality, abnormal", + "visual perception absent, abnormal" ], "has_phenotype_closure": [ - "NCBITaxon:1489341", - "NCBITaxon:33208", - "UBERON:0000465", - "ZP:0100009", - "ZP:0107296", + "GO:0050953", + "BFO:0000015", + "UPHENO:0034024", + "GO:0007601", + "GO:0050877", + "GO:0007600", + "ZP:0131284", + "GO:0032501", "ZFA:0001094", - "NCBITaxon:7952", - "NCBITaxon:186627", - "ZFA:0009000", - "NCBITaxon:7898", - "ZFA:0000037", - "BFO:0000004", - "NCBITaxon:186626", - "NCBITaxon:7776", - "NCBITaxon:186625", - "CL:0000325", - "ZFA:0100000", + "ZP:0100294", + "UPHENO:0001002", "ZP:0107311", - "NCBITaxon:2743711", - "NCBITaxon:33213", - "NCBITaxon:2743709", - "BFO:0000015", - "NCBITaxon:33511", - "ZFA:0009090", - "NCBITaxon:32443", - "NCBITaxon:1", - "UBERON:0000061", - "NCBITaxon:117570", - "UBERON:0010000", "UPHENO:0002536", - "GO:0050877", + "ZP:0107296", + "BFO:0000001", + "UPHENO:0001001", + "BFO:0000002", "NCBITaxon:186623", - "UBERON:0000468", "NCBITaxon:89593", + "UBERON:0001062", + "NCBITaxon:2759", + "NCBITaxon:186634", + "ZFA:0009090", "NCBITaxon:6072", - "CL:0000000", + "ZFA:0100000", + "ZP:0000945", + "PATO:0000001", + "UBERON:0000468", + "GO:0008150", + "NCBITaxon:1", + "UPHENO:0078456", + "CL:0000325", + "ZP:0001840", + "NCBITaxon:33511", + "ZP:0107301", + "ZP:0100009", + "NCBITaxon:7742", + "NCBITaxon:41665", + "UPHENO:0001003", + "ZFA:0000037", + "OBI:0100026", + "NCBITaxon:117571", "UPHENO:0001005", - "BFO:0000040", - "UPHENO:0001001", + "CL:0000147", + "NCBITaxon:7776", "NCBITaxon:7954", - "NCBITaxon:117571", - "UPHENO:0034024", - "NCBITaxon:131567", - "UPHENO:0078456", - "BFO:0000003", - "PATO:0000001", + "ZP:00000000", + "UBERON:0000061", + "NCBITaxon:7952", "NCBITaxon:32519", - "GO:0008150", - "ZP:0131284", - "UPHENO:0001002", - "NCBITaxon:30727", + "ZFA:0009000", + "UBERON:0010000", "NCBITaxon:7711", - "BFO:0000001", - "UPHENO:0001003", + "NCBITaxon:1489341", "BFO:0000020", - "UBERON:0001062", - "NCBITaxon:2759", - "GO:0032501", - "ZP:00000000", - "GO:0003008", - "ZP:0107301", - "CL:0000147", - "GO:0007601", - "GO:0007600", - "BFO:0000002", - "NCBITaxon:186634", - "OBI:0100026", - "NCBITaxon:41665", - "ZP:0001840", - "NCBITaxon:7742", - "ZP:0000945", + "BFO:0000003", + "NCBITaxon:7898", + "NCBITaxon:117570", + "CL:0000000", + "NCBITaxon:186627", + "NCBITaxon:186626", + "NCBITaxon:131567", + "NCBITaxon:2743711", + "BFO:0000040", "NCBITaxon:33154", - "GO:0050953", - "ZP:0100294" + "GO:0003008", + "NCBITaxon:33208", + "UBERON:0000465", + "NCBITaxon:32443", + "NCBITaxon:33213", + "BFO:0000004", + "NCBITaxon:30727", + "NCBITaxon:186625", + "NCBITaxon:2743709" ], "has_phenotype_closure_label": [ - "Craniata ", - "anatomical entity", - "zebrafish anatomical entity quality, abnormal", - "Danionidae", - "organism", - "Cyprinoidei", - "Actinopterygii", - "Euteleostomi", - "root", - "Clupeocephala", - "Osteoglossocephalai", - "stuff accumulating cell", - "Danioninae", - "Teleostei", - "Chordata", - "Otophysi", - "Metazoa", - "Bilateria", - "Opisthokonta", - "independent continuant", - "Cypriniphysae", - "Teleostomi", - "pigment cell", - "Deuterostomia", - "Eukaryota", - "Gnathostomata ", - "multicellular anatomical structure", - "cell", + "sensory perception", + "absent visual perception", + "visual perception quality, abnormal", + "nervous system process", + "process", + "biological_process quality, abnormal", + "visual perception", "zebrafish anatomical entity", - "Ostariophysi", - "cellular organisms", - "material anatomical entity", - "material entity", - "phenotype", - "cell quality, abnormal", "Otomorpha", + "Gnathostomata ", + "phenotype", + "occurrent", + "abnormal anatomical entity", + "anatomical structure quality, abnormal", + "specifically dependent continuant", "Neopterygii", + "cell quality, abnormal", + "pigment cell quality, abnormal", + "quality", + "root", "Actinopteri", + "zebrafish anatomical entity quality, abnormal", + "independent continuant", + "Phenotypic abnormality", + "Cypriniformes", + "sensory perception of light stimulus", + "Danioninae", + "Craniata ", + "Cypriniphysae", + "cell", + "Chordata", "Eumetazoa", - "continuant", - "abnormal anatomical entity", - "visual perception quality, abnormal", - "pigment cell quality, abnormal", "phenotype by ontology source", - "sensory perception of light stimulus", - "entity", - "visual perception", - "multicellular organismal process", - "specifically dependent continuant", - "Zebrafish Phenotype", - "sensory perception", - "Cypriniformes", - "visual perception absent, abnormal", - "biological_process", - "Danio", "whole organism quality, abnormal", - "system process", - "anatomical structure quality, abnormal", - "nervous system process", - "Phenotypic abnormality", - "biological_process quality, abnormal", - "occurrent", - "abnormal phenotype by ontology source", - "process", + "absent biological_process", "Vertebrata ", + "Teleostei", + "Actinopterygii", + "Ostariophysi", + "multicellular anatomical structure", + "pigment cell", + "Cyprinoidei", + "anatomical entity", + "Osteoglossocephalai", + "cellular organisms", + "Deuterostomia", + "Opisthokonta", + "Euteleostomi", + "entity", + "abnormal phenotype by ontology source", + "Metazoa", + "Clupeocephala", + "multicellular organism", + "Teleostomi", + "material entity", "anatomical structure", - "absent biological_process", - "absent visual perception", - "quality", + "multicellular organismal process", + "Danionidae", "whole organism", - "multicellular organism" + "stuff accumulating cell", + "Danio", + "Otophysi", + "Eukaryota", + "Bilateria", + "visual perception absent, abnormal", + "organism", + "Zebrafish Phenotype", + "material anatomical entity", + "continuant", + "system process", + "biological_process" ], "has_phenotype_count": 2 }, "score": 5.262083911717577, "similarity": { "subject_termset": { - "ZP:0100294": { - "id": "ZP:0100294", - "label": "visual perception absent, abnormal" - }, "ZP:0000945": { "id": "ZP:0000945", "label": "pigment cell quality, abnormal" + }, + "ZP:0100294": { + "id": "ZP:0100294", + "label": "visual perception absent, abnormal" } }, "object_termset": { @@ -1504,62 +1506,62 @@ "visual behavior quality, abnormal" ], "has_phenotype_closure": [ - "BFO:0000003", - "UPHENO:0001005", - "GO:0009314", - "BFO:0000001", - "GO:0009628", - "GO:0008150", - "ZP:0131284", + "GO:0009416", + "UPHENO:0001003", + "ZP:0015039", "UPHENO:0034024", + "GO:0009628", + "BFO:0000020", + "UPHENO:0001005", + "ZP:00000000", "UPHENO:0001002", - "GO:0007632", + "BFO:0000002", "GO:0050896", - "UPHENO:0078496", "GO:0032501", - "ZP:00000000", + "ZP:0005465", + "BFO:0000003", "ZP:0001669", - "BFO:0000002", - "ZP:0015039", - "BFO:0000020", - "ZP:0001841", + "BFO:0000015", + "UPHENO:0078496", "GO:0007610", - "PATO:0000001", - "ZP:0005465", "UPHENO:0034056", - "GO:0009416", + "PATO:0000001", + "BFO:0000001", + "GO:0009314", "UPHENO:0001001", - "BFO:0000015", - "UPHENO:0001003" + "GO:0008150", + "ZP:0131284", + "ZP:0001841", + "GO:0007632" ], "has_phenotype_closure_label": [ + "response to light stimulus", + "quality", "behavior quality, abnormal", "response to light stimulus quality, abnormal", - "continuant", - "response to stimulus", + "phenotype by ontology source", + "phenotype", + "visual behavior quality, abnormal", "abnormal phenotype by ontology source", - "quality", "absent behavior", - "biological_process", - "response to light stimulus", - "multicellular organismal process", - "entity", - "response to radiation", - "phenotype", - "phenotype by ontology source", - "biological_process quality, abnormal", - "behavior", - "Phenotypic abnormality", "occurrent", - "absent visual behavior", "response to abiotic stimulus", + "specifically dependent continuant", + "absent visual behavior", "visual behavior absent, abnormal", + "continuant", + "multicellular organismal process", + "biological_process", + "biological_process quality, abnormal", "Zebrafish Phenotype", - "specifically dependent continuant", - "visual behavior", "process", - "visual behavior quality, abnormal", - "absent biological_process" + "visual behavior", + "response to radiation", + "absent biological_process", + "behavior", + "response to stimulus", + "entity", + "Phenotypic abnormality" ], "has_phenotype_count": 2 }, @@ -1576,15 +1578,15 @@ } }, "object_termset": { - "HP:0002104": { "id": "HP:0002104", "label": "Apnea" }, - "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" } + "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" }, + "HP:0002104": { "id": "HP:0002104", "label": "Apnea" } }, "subject_best_matches": { "ZP:0001841": { "match_source": "ZP:0001841", "match_source_label": "visual behavior quality, abnormal", - "match_target": "HP:0012378", - "match_target_label": "Fatigue", + "match_target": "HP:0002104", + "match_target_label": "Apnea", "score": 1.6752927740139332, "match_subsumer": null, "match_subsumer_label": null, @@ -1592,7 +1594,7 @@ "subject_id": "ZP:0001841", "subject_label": null, "subject_source": null, - "object_id": "HP:0012378", + "object_id": "HP:0002104", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0001005", @@ -1601,10 +1603,10 @@ "object_information_content": null, "subject_information_content": null, "ancestor_information_content": 1.6752927740139332, - "jaccard_similarity": 0.47058823529411764, + "jaccard_similarity": 0.2962962962962963, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 0.8879037504843663 + "phenodigm_score": 0.7045445650576523 }, "score_metric": "ancestor_information_content" }, @@ -1726,197 +1728,197 @@ "has_phenotype": ["ZP:0005756"], "has_phenotype_label": ["pharyngeal arch non-functional, abnormal"], "has_phenotype_closure": [ - "NCBITaxon:186625", - "NCBITaxon:1489341", - "NCBITaxon:33208", - "ZP:0107311", - "UBERON:0000465", - "ZP:0107344", - "ZP:0100009", - "UBERON:0000153", - "UBERON:0000475", - "UPHENO:0001001", + "OBI:0100026", + "UPHENO:0002833", + "ZP:0107569", + "ZP:00000000", + "UBERON:0008816", + "NCBITaxon:6072", + "UPHENO:0075696", + "UBERON:0007811", + "UBERON:0013702", + "NCBITaxon:2759", + "NCBITaxon:7954", + "UBERON:0000033", + "UBERON:0010314", "BFO:0000020", - "UBERON:0013701", - "ZFA:0001094", + "UBERON:0010000", + "UBERON:0009145", "NCBITaxon:131567", - "PATO:0000001", - "UBERON:0000033", - "UBERON:0004921", - "NCBITaxon:7952", - "NCBITaxon:186627", + "ZP:0107344", + "UPHENO:0086128", + "NCBITaxon:186626", + "NCBITaxon:32519", "UBERON:0001041", - "UBERON:0011676", - "NCBITaxon:7898", "UBERON:0002539", - "UBERON:0001007", - "UPHENO:0002332", - "UBERON:0005423", - "ZFA:0001308", - "NCBITaxon:2759", + "UPHENO:0001005", + "NCBITaxon:2743709", + "NCBITaxon:186625", + "ZP:0005756", "ZFA:0000037", - "BFO:0000004", - "NCBITaxon:30727", - "NCBITaxon:32519", - "NCBITaxon:186626", "NCBITaxon:7776", - "UPHENO:0002764", + "UBERON:0000922", + "UBERON:0010188", + 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"ZP:0107301", - "UBERON:0001555", - "NCBITaxon:117571", - "NCBITaxon:117570", - "UPHENO:0082875", - "UBERON:0000061", - "NCBITaxon:2743709", - "UBERON:0000481", - "BFO:0000040", "ZP:0000395", - "BFO:0000002", - "UBERON:0000064", - "NCBITaxon:186623", - "ZP:0000598", - "UBERON:0010000", + "UBERON:0001007", + "ZFA:0001114", "UBERON:0034944", - "UPHENO:0002536", - "UPHENO:0001005", - "UBERON:0009145", - "UPHENO:0002833", - "ZP:0107569", "NCBITaxon:1", - "UBERON:0000062", - "UBERON:0010314", - "UBERON:0000467", + "UPHENO:0001003", "NCBITaxon:41665", - "UBERON:0007811", - "UBERON:0000468" + "UPHENO:0002332", + "UBERON:0004921", + "PATO:0000001", + "ZFA:0001094", + "UBERON:0000064", + "BFO:0000001", + "UBERON:0004111", + "UBERON:0000468", + "UBERON:0000481", + "UPHENO:0001001", + "NCBITaxon:117571", + "NCBITaxon:186627", + "NCBITaxon:117570", + "NCBITaxon:7898", + "ZFA:0100000", + "ZP:0107307", + "NCBITaxon:33213", + "NCBITaxon:32443", + "ZFA:0001306", + "UPHENO:0002536", + "NCBITaxon:186634", + "UBERON:0005423", + "ZP:0107311", + "UBERON:0000025", + "UBERON:0008814", + "UBERON:0000465", + "NCBITaxon:33208", + "UPHENO:0001002", + "ZP:0000598", + "NCBITaxon:33154", + "NCBITaxon:2743711", + "BFO:0000040", + "UBERON:0000153", + "ZFA:0001308", + "UBERON:0034921", + "NCBITaxon:7711", + "NCBITaxon:1489341" ], "has_phenotype_closure_label": [ - "anatomical entity", - "zebrafish anatomical entity quality, abnormal", - "pharyngeal arch physical object quality, abnormal", - "phenotype", - "Danionidae", - "subdivision of tube", - "zone of organ", - "anatomical conduit", + "Danioninae", + "abnormal digestive system", + "pharyngeal arch quality, abnormal", + "Bilateria", + "Eukaryota", "Danio", - "whole organism quality, abnormal", - "Cyprinoidei", - "Actinopterygii", - "digestive system", - "root", - "phenotype by ontology source", - "specifically dependent continuant", - "Osteoglossocephalai", - "Clupeocephala", - "main body axis", - "subdivision of organism along main body axis", - "cellular organisms", - "abnormal craniocervical region", - "Danioninae", - "Teleostei", - "organism", - "digestive tract", - "body proper", "Otophysi", - "craniocervical region", - "Ostariophysi", - "Metazoa", + "protuberance", + "digestive tract", + "root", + "quality", + "phenotype by ontology source", + "Danionidae", + "Cyprinoidei", + "pharyngeal arch system", + "anatomical system", + "organism", + "organ", + "phenotype", + "Cypriniformes", + "Eumetazoa", + "Vertebrata ", + "abnormal craniocervical region", + "subdivision of organism along main body axis", + "Neopterygii", "anterior region of body", - "multi-tissue structure quality, abnormal", + "Euteleostomi", + "Ostariophysi", + "organ part", + "pharyngeal arch physical object quality, abnormal", + "zone of organ", + "embryonic head", + "organism subdivision", + "Phenotypic abnormality", + "digestive system", + "multi organ part structure", "entity", - "developing anatomical structure", - "Vertebrata ", + "abnormal head", + "subdivision of tube", "anatomical structure", - "independent continuant", - "abnormal anatomical entity", - "pharyngeal arch quality, abnormal", - "Cypriniphysae", - "Opisthokonta", - "structure with developmental contribution from neural crest", - "Bilateria", - "Chordata", - "anatomical system", "non-functional anatomical entity", - "head quality, abnormal", - "subdivision of digestive tract", - "abnormal digestive system", + "multicellular anatomical structure", + "anatomical entity", + "Gnathostomata ", + "Otomorpha", + "continuant", + "Osteoglossocephalai", + "material entity", "Teleostomi", + "Craniata ", + "Cypriniphysae", + "main body axis", "pharyngeal arch", - "Eumetazoa", - "foregut", - "pharyngeal arch non-functional, abnormal", - "Euteleostomi", - "embryonic head", - "abnormal head", + "Chordata", + "Actinopteri", "head", + "pharyngeal region of foregut", + "multi-tissue structure quality, abnormal", + "specifically dependent continuant", + "Opisthokonta", + "organism subdivision quality, abnormal", "Deuterostomia", - "Eukaryota", + "pharyngeal arch non-functional, abnormal", + "cellular organisms", + "subdivision of digestive tract", + "anatomical conduit", + "head quality, abnormal", + "developing anatomical structure", + "body proper", + "abnormal phenotype by ontology source", "tube", - "Cypriniformes", - "multi organ part structure", - "organ", - "protuberance", - "organism subdivision", - "Craniata ", "multi-tissue structure", - "organism subdivision quality, abnormal", - "quality", - "abnormal phenotype by ontology source", - "whole organism", - "multicellular organism", - "Zebrafish Phenotype", - "pharyngeal arch system", - "Phenotypic abnormality", + "Metazoa", + "Clupeocephala", + "foregut", + "craniocervical region", "anatomical structure quality, abnormal", - "Neopterygii", - "Otomorpha", - "organ part", - "embryo", - "zebrafish anatomical entity", - "Gnathostomata ", - "multicellular anatomical structure", - "Actinopteri", "abnormality of anatomical entity physiology", - "pharyngeal region of foregut", + "embryo", + "Actinopterygii", + "Teleostei", + "whole organism quality, abnormal", + "structure with developmental contribution from neural crest", + "abnormal anatomical entity", + "independent continuant", + "zebrafish anatomical entity quality, abnormal", + "Zebrafish Phenotype", "material anatomical entity", - "material entity", - "continuant" + "zebrafish anatomical entity", + "multicellular organism", + "whole organism" ], "has_phenotype_count": 1 }, @@ -2052,123 +2054,123 @@ "has_phenotype": ["ZP:0001432"], "has_phenotype_label": ["whole organism morphology, abnormal"], "has_phenotype_closure": [ - "NCBITaxon:186625", - "NCBITaxon:1489341", - "NCBITaxon:131567", + "NCBITaxon:33154", "UBERON:0000465", - "ZP:0100009", - "UPHENO:0001001", - "ZFA:0001094", - "PATO:0000001", - "NCBITaxon:2759", + "NCBITaxon:2743709", + "NCBITaxon:30727", "BFO:0000004", + "NCBITaxon:6072", + "UPHENO:0075696", + "ZP:00000000", + "NCBITaxon:7954", + "NCBITaxon:33213", + "NCBITaxon:131567", + "UBERON:0010000", "NCBITaxon:186626", + "NCBITaxon:186627", + "BFO:0000020", + "NCBITaxon:186625", + "NCBITaxon:1489341", + "NCBITaxon:41665", "NCBITaxon:7776", - "ZP:0107311", - "NCBITaxon:2743711", - "OBI:0100026", - "NCBITaxon:7954", + "NCBITaxon:117570", + "UPHENO:0001005", "NCBITaxon:117571", - "NCBITaxon:2743709", - "UPHENO:0075696", - "NCBITaxon:7711", - "BFO:0000001", - "UPHENO:0001002", - "NCBITaxon:30727", + "UPHENO:0020584", + "ZP:0013613", + "BFO:0000040", + "NCBITaxon:32519", + "OBI:0100026", "ZFA:0000037", + "UPHENO:0001003", + "ZP:0100009", "NCBITaxon:33511", + "NCBITaxon:2743711", + "NCBITaxon:7711", + "ZP:0107301", + "NCBITaxon:1", + "UBERON:0000468", + "ZFA:0001094", + "PATO:0000001", + "BFO:0000001", + "ZFA:0100000", + "UPHENO:0001001", + "NCBITaxon:2759", + "UBERON:0001062", + "NCBITaxon:89593", + "BFO:0000002", + "UBERON:0000061", + "UPHENO:0015280", "NCBITaxon:7742", "UPHENO:0076692", - "BFO:0000020", - "NCBITaxon:186634", - "NCBITaxon:33154", - "NCBITaxon:117570", - "ZP:0013613", - "UBERON:0000061", - "BFO:0000002", + "NCBITaxon:186623", "NCBITaxon:7898", - "UBERON:0010000", - "UPHENO:0002536", "NCBITaxon:7952", - "NCBITaxon:41665", - "UPHENO:0015280", - "NCBITaxon:32519", - "NCBITaxon:1", - "ZFA:0100000", - "NCBITaxon:186623", - "ZP:00000000", - "UBERON:0000468", - "UPHENO:0001003", "NCBITaxon:32443", - "NCBITaxon:186627", "ZP:0001432", - "UPHENO:0020584", - "NCBITaxon:33213", - "UPHENO:0001005", - "BFO:0000040", - "NCBITaxon:89593", - "NCBITaxon:6072", - "ZP:0107301", - "NCBITaxon:33208", - "UBERON:0001062" + "ZP:0107311", + "UPHENO:0002536", + "NCBITaxon:186634", + "UPHENO:0001002", + "NCBITaxon:33208" ], "has_phenotype_closure_label": [ - "Craniata ", - "zebrafish anatomical entity quality, abnormal", - "phenotype", - "Danionidae", + "material anatomical entity", "organism", - "Cyprinoidei", - "Actinopterygii", + "Bilateria", + "Eukaryota", "root", - "specifically dependent continuant", - "Clupeocephala", - "Osteoglossocephalai", + "Otophysi", + "whole organism", + "Danio", + "Danionidae", + "anatomical structure", "material entity", - "material anatomical entity", - "Teleostei", "whole organism physical object quality, abnormal", - "Danioninae", - "Vertebrata ", - "anatomical structure", - "independent continuant", - "entity", + "multicellular organism", + "Clupeocephala", + "abnormal phenotype by ontology source", "abnormal anatomical entity morphology", - "Chordata", + "Actinopterygii", + "Ostariophysi", + "Vertebrata ", + "whole organism quality, abnormal", + "anatomical entity", + "Deuterostomia", + "Cyprinoidei", + "multicellular anatomical structure", + "Opisthokonta", + "abnormal anatomical entity morphology in the independent continuant", + "Osteoglossocephalai", "continuant", + "Zebrafish Phenotype", + "Phenotypic abnormality", "phenotype by ontology source", - "abnormal anatomical entity", + "Eumetazoa", + "Chordata", + "Craniata ", + "Danioninae", "Cypriniformes", - "whole organism quality, abnormal", - "Danio", - "Opisthokonta", - "Bilateria", + "Teleostei", + "Euteleostomi", + "entity", + "Teleostomi", + "independent continuant", "Actinopteri", - "Gnathostomata ", - "multicellular anatomical structure", - "Phenotypic abnormality", "Neopterygii", - "Otomorpha", - "anatomical structure quality, abnormal", - "Euteleostomi", - "whole organism morphology, abnormal", - "Eumetazoa", - "Deuterostomia", - "Eukaryota", - "Ostariophysi", - "Metazoa", "Cypriniphysae", - "anatomical entity", + "specifically dependent continuant", "cellular organisms", - "abnormal phenotype by ontology source", + "anatomical structure quality, abnormal", + "abnormal anatomical entity", "quality", - "Otophysi", - "abnormal anatomical entity morphology in the independent continuant", - "Teleostomi", - "zebrafish anatomical entity", - "Zebrafish Phenotype", - "whole organism", - "multicellular organism" + "Metazoa", + "phenotype", + "Gnathostomata ", + "Otomorpha", + "whole organism morphology, abnormal", + "zebrafish anatomical entity quality, abnormal", + "zebrafish anatomical entity" ], "has_phenotype_count": 1 }, @@ -2181,8 +2183,8 @@ } }, "object_termset": { - "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" }, - "HP:0002104": { "id": "HP:0002104", "label": "Apnea" } + "HP:0002104": { "id": "HP:0002104", "label": "Apnea" }, + "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" } }, "subject_best_matches": { "ZP:0001432": { @@ -2304,123 +2306,123 @@ "has_phenotype": ["ZP:0001432"], "has_phenotype_label": ["whole organism morphology, abnormal"], "has_phenotype_closure": [ - "NCBITaxon:186625", - "NCBITaxon:1489341", - "NCBITaxon:131567", + "NCBITaxon:33154", "UBERON:0000465", - "ZP:0100009", - "UPHENO:0001001", - "ZFA:0001094", - "PATO:0000001", - "NCBITaxon:2759", + "NCBITaxon:2743709", + "NCBITaxon:30727", "BFO:0000004", + "NCBITaxon:6072", + "UPHENO:0075696", + "ZP:00000000", + "NCBITaxon:7954", + "NCBITaxon:33213", + "NCBITaxon:131567", + "UBERON:0010000", "NCBITaxon:186626", + "NCBITaxon:186627", + "BFO:0000020", + "NCBITaxon:186625", + "NCBITaxon:1489341", + "NCBITaxon:41665", "NCBITaxon:7776", - "ZP:0107311", - "NCBITaxon:2743711", - "OBI:0100026", - "NCBITaxon:7954", + "NCBITaxon:117570", + "UPHENO:0001005", "NCBITaxon:117571", - "NCBITaxon:2743709", - "UPHENO:0075696", - "NCBITaxon:7711", - "BFO:0000001", - "UPHENO:0001002", - "NCBITaxon:30727", + "UPHENO:0020584", + "ZP:0013613", + "BFO:0000040", + "NCBITaxon:32519", + "OBI:0100026", "ZFA:0000037", + "UPHENO:0001003", + "ZP:0100009", "NCBITaxon:33511", + "NCBITaxon:2743711", + "NCBITaxon:7711", + "ZP:0107301", + "NCBITaxon:1", + "UBERON:0000468", + "ZFA:0001094", + "PATO:0000001", + "BFO:0000001", + "ZFA:0100000", + "UPHENO:0001001", + "NCBITaxon:2759", + "UBERON:0001062", + "NCBITaxon:89593", + "BFO:0000002", + "UBERON:0000061", + "UPHENO:0015280", "NCBITaxon:7742", "UPHENO:0076692", - "BFO:0000020", - "NCBITaxon:186634", - "NCBITaxon:33154", - "NCBITaxon:117570", - "ZP:0013613", - "UBERON:0000061", - "BFO:0000002", + "NCBITaxon:186623", "NCBITaxon:7898", - "UBERON:0010000", - "UPHENO:0002536", "NCBITaxon:7952", - "NCBITaxon:41665", - "UPHENO:0015280", - "NCBITaxon:32519", - "NCBITaxon:1", - "ZFA:0100000", - "NCBITaxon:186623", - "ZP:00000000", - "UBERON:0000468", - "UPHENO:0001003", "NCBITaxon:32443", - "NCBITaxon:186627", "ZP:0001432", - "UPHENO:0020584", - "NCBITaxon:33213", - "UPHENO:0001005", - "BFO:0000040", - "NCBITaxon:89593", - "NCBITaxon:6072", - "ZP:0107301", - "NCBITaxon:33208", - "UBERON:0001062" + "ZP:0107311", + "UPHENO:0002536", + "NCBITaxon:186634", + "UPHENO:0001002", + "NCBITaxon:33208" ], "has_phenotype_closure_label": [ - "Craniata ", - "zebrafish anatomical entity quality, abnormal", - "phenotype", - "Danionidae", + "material anatomical entity", "organism", - "Cyprinoidei", - "Actinopterygii", + "Bilateria", + "Eukaryota", "root", - "specifically dependent continuant", - "Clupeocephala", - "Osteoglossocephalai", + "Otophysi", + "whole organism", + "Danio", + "Danionidae", + "anatomical structure", "material entity", - "material anatomical entity", - "Teleostei", "whole organism physical object quality, abnormal", - "Danioninae", - "Vertebrata ", - "anatomical structure", - "independent continuant", - "entity", + "multicellular organism", + "Clupeocephala", + "abnormal phenotype by ontology source", "abnormal anatomical entity morphology", - "Chordata", + "Actinopterygii", + "Ostariophysi", + "Vertebrata ", + "whole organism quality, abnormal", + "anatomical entity", + "Deuterostomia", + "Cyprinoidei", + "multicellular anatomical structure", + "Opisthokonta", + "abnormal anatomical entity morphology in the independent continuant", + "Osteoglossocephalai", "continuant", + "Zebrafish Phenotype", + "Phenotypic abnormality", "phenotype by ontology source", - "abnormal anatomical entity", + "Eumetazoa", + "Chordata", + "Craniata ", + "Danioninae", "Cypriniformes", - "whole organism quality, abnormal", - "Danio", - "Opisthokonta", - "Bilateria", + "Teleostei", + "Euteleostomi", + "entity", + "Teleostomi", + "independent continuant", "Actinopteri", - "Gnathostomata ", - "multicellular anatomical structure", - "Phenotypic abnormality", "Neopterygii", - "Otomorpha", - "anatomical structure quality, abnormal", - "Euteleostomi", - "whole organism morphology, abnormal", - "Eumetazoa", - "Deuterostomia", - "Eukaryota", - "Ostariophysi", - "Metazoa", "Cypriniphysae", - "anatomical entity", + "specifically dependent continuant", "cellular organisms", - "abnormal phenotype by ontology source", + "anatomical structure quality, abnormal", + "abnormal anatomical entity", "quality", - "Otophysi", - "abnormal anatomical entity morphology in the independent continuant", - "Teleostomi", - "zebrafish anatomical entity", - "Zebrafish Phenotype", - "whole organism", - "multicellular organism" + "Metazoa", + "phenotype", + "Gnathostomata ", + "Otomorpha", + "whole organism morphology, abnormal", + "zebrafish anatomical entity quality, abnormal", + "zebrafish anatomical entity" ], "has_phenotype_count": 1 }, diff --git a/frontend/fixtures/search.json b/frontend/fixtures/search.json index c861a90ba..e19000a5d 100644 --- a/frontend/fixtures/search.json +++ b/frontend/fixtures/search.json @@ -1,7 +1,7 @@ { "limit": 20, "offset": 0, - "total": 117, + "total": 118, "items": [ { "id": "MONDO:0019391", @@ -44,40 +44,46 @@ "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0002863", + "HP:0010469", + "HP:0000377", "HP:0002575", "HP:0000483", + "HP:0000238", "HP:0001249", "HP:0100587", + "HP:0100026", "HP:0040071", + "HP:0012639", + "HP:0008053", "HP:0006824", "HP:0005344", "HP:0002414", - "HP:0001199", + "HP:0002245", + "HP:0002023", + "HP:0001824", + "HP:0001646", + "HP:0000582", "HP:0000518", "HP:0000508", - "HP:0000010", + "HP:0000453", + "HP:0000047", + "HP:0007874", + "HP:0002650", "HP:0000252", - "HP:0001000", - "HP:0010469", - "HP:0000377", + "HP:0001882", + "HP:0002863", "HP:0002119", + "HP:0001510", "HP:0001392", "HP:0000864", "HP:0000316", - "HP:0000238", "HP:0000027", - "HP:0001562", - "HP:0001510", "HP:0100867", "HP:0100760", "HP:0100542", - "HP:0100026", - "HP:0012639", "HP:0012041", "HP:0010293", "HP:0008678", - "HP:0008053", "HP:0007565", "HP:0006265", "HP:0006101", @@ -87,25 +93,22 @@ "HP:0002827", "HP:0002823", "HP:0002251", - "HP:0002245", - "HP:0002023", "HP:0002007", - "HP:0001824", "HP:0001770", "HP:0001763", "HP:0001760", "HP:0001679", - "HP:0001646", "HP:0001643", "HP:0001639", "HP:0001636", "HP:0001631", + "HP:0001562", "HP:0001537", "HP:0001511", "HP:0001347", + "HP:0001199", "HP:0000813", "HP:0000639", - "HP:0000582", "HP:0000568", "HP:0000520", "HP:0000505", @@ -113,7 +116,6 @@ "HP:0000492", "HP:0000486", "HP:0000478", - "HP:0000453", "HP:0000365", "HP:0000364", "HP:0000347", @@ -127,14 +129,12 @@ "HP:0000130", "HP:0000083", "HP:0000072", - "HP:0000047", "HP:0000035", "HP:0000028", + "HP:0000010", "HP:0012745", "HP:0012210", - "HP:0007874", "HP:0002664", - "HP:0002650", "HP:0001671", "HP:0001263", "HP:0000079", @@ -145,47 +145,53 @@ "HP:0003220", "HP:0002817", "HP:0001903", - "HP:0001882", "HP:0001873", "HP:0001871", "HP:0001172", - "HP:0001053" + "HP:0001053", + "HP:0001000" ], "has_phenotype_label": [ - "Myelodysplasia", + "Absent testis", + "Abnormal pinna morphology", "Tracheoesophageal fistula", "Astigmatism", + "Hydrocephalus", "Intellectual disability", "Abnormal preputium morphology", + "Arteriovenous malformation", "Abnormal morphology of ulna", + "Abnormal nervous system morphology", + "Aplasia/Hypoplasia of the iris", "Cranial nerve paralysis", "Abnormal carotid artery morphology", "Spina bifida", - "Triphalangeal thumb", + "Meckel diverticulum", + "Anal atresia", + "Weight loss", + "Abnormal aortic valve morphology", + "Upslanted palpebral fissure", "Cataract", "Ptosis", - "Recurrent urinary tract infections", + "Choanal atresia", + "Hypospadias", + "Almond-shaped palpebral fissure", + "Scoliosis", "Microcephaly", - "Abnormality of skin pigmentation", - "Absent testis", - "Abnormal pinna morphology", + "Leukopenia", + "Myelodysplasia", "Ventriculomegaly", + "Growth delay", "Abnormality of the liver", "Abnormality of the hypothalamus-pituitary axis", "Hypertelorism", - "Hydrocephalus", "Azoospermia", - "Oligohydramnios", - "Growth delay", "Duodenal stenosis", "Clubbing of toes", "Abnormal localization of kidney", - "Arteriovenous malformation", - "Abnormal nervous system morphology", "Decreased fertility in males", "Aplasia/Hypoplasia of the uvula", "Renal hypoplasia/aplasia", - "Aplasia/Hypoplasia of the iris", "Multiple cafe-au-lait spots", "Aplasia/Hypoplasia of fingers", "Finger syndactyly", @@ -195,25 +201,22 @@ "Hip dislocation", "Abnormality of femur morphology", "Aganglionic megacolon", - "Meckel diverticulum", - "Anal atresia", "Frontal bossing", - "Weight loss", "Toe syndactyly", "Pes planus", "Abnormal foot morphology", "Abnormal aortic morphology", - "Abnormal aortic valve morphology", "Patent ductus arteriosus", "Hypertrophic cardiomyopathy", "Tetralogy of Fallot", "Atrial septal defect", + "Oligohydramnios", "Umbilical hernia", "Intrauterine growth retardation", "Hyperreflexia", + "Triphalangeal thumb", "Bicornuate uterus", "Nystagmus", - "Upslanted palpebral fissure", "Microphthalmia", "Proptosis", "Visual impairment", @@ -221,7 +224,6 @@ "Abnormal eyelid morphology", "Strabismus", "Abnormality of the eye", - "Choanal atresia", "Hearing impairment", "Hearing abnormality", "Micrognathia", @@ -235,14 +237,12 @@ "Abnormality of the uterus", "Renal insufficiency", "Hydroureter", - "Hypospadias", "Abnormal testis morphology", "Cryptorchidism", + "Recurrent urinary tract infections", "Short palpebral fissure", "Abnormal renal morphology", - "Almond-shaped palpebral fissure", "Neoplasm", - "Scoliosis", "Abnormal cardiac septum morphology", "Global developmental delay", "Abnormality of the urinary system", @@ -253,18517 +253,18837 @@ "Abnormality of chromosome stability", "Abnormality of the upper limb", "Anemia", - "Leukopenia", "Thrombocytopenia", "Abnormality of blood and blood-forming tissues", "Abnormal thumb morphology", - "Hypopigmented skin patches" + "Hypopigmented skin patches", + "Abnormality of skin pigmentation" ], "has_phenotype_closure": [ - "UPHENO:0077872", - "UPHENO:0077874", - "HP:0001053", "HP:0001010", "UPHENO:0085070", - "CL:0000225", - "UPHENO:0084987", + "CL:0000458", + "HP:0001873", + "UPHENO:0085344", "UPHENO:0085189", - "HP:0001872", - "UPHENO:0086005", - "HP:0011873", + "UPHENO:0084987", + "UPHENO:0086049", + "HP:0011875", "CL:0000233", - "UPHENO:0088337", - "UBERON:0000178", - "CL:0002242", - "UPHENO:0088338", - "HP:0032251", - "UPHENO:0063722", - "UPHENO:0035147", - "GO:0005623", - "GO:0034101", - "GO:0048468", - "UPHENO:0085118", + "CL:0000457", + "UPHENO:0086173", + "HP:0001939", + "HP:0003220", + "GO:0008152", + "HP:0000002", + "UPHENO:0080351", + "UPHENO:0075159", + "GO:0030218", "HP:0010972", + "GO:0030099", + "UPHENO:0077892", + "GO:0030097", + "HP:0001877", "HP:0025461", - "GO:0048869", + "UPHENO:0084928", + "CL:0000329", + "UPHENO:0088162", "GO:0048871", - "HP:0012130", - "GO:0030099", + "CL:0000764", + "GO:0048872", + "UPHENO:0088170", + "GO:0048869", + "GO:0002376", + "GO:0009987", + "GO:0042592", + "HP:0005522", "HP:0020047", - "HP:0002818", - "CL:0000738", - "UBERON:0001423", + "CL:0000232", + "UBERON:0015001", "UPHENO:0080187", - "HP:0001263", - "HP:0010674", - "HP:0002650", - "UPHENO:0046753", + "HP:0002818", "UPHENO:0075198", - "UPHENO:0081755", - "UPHENO:0053580", - "HP:0100627", - "HP:0010936", - "UBERON:0035651", + "HP:0012745", + "HP:0000010", + "UPHENO:0002263", + "UPHENO:0053644", + "HP:0000028", + "UPHENO:0002806", + "UBERON:0000056", + "UBERON:0006555", "UBERON:0036295", - "UPHENO:0076780", - "HP:0000072", - "HP:0007874", - "HP:0000069", + "HP:0025633", + "UPHENO:0002442", 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"HP:0011314", - "HP:0031910", - "UBERON:0004709", - "UPHENO:0020258", - "HP:0011355", - "UBERON:0001709", - "HP:0000315", - "UBERON:0010425", - "HP:0100547", - "UBERON:0004339", - "UBERON:0001005", - "BFO:0000003", - "UPHENO:0087846", - "HP:0410008", - "UBERON:0016529", - "HP:0100691", - "UBERON:0010314", - "UPHENO:0002448", - "HP:0000080", - "UPHENO:0054299", - "PR:000050567", - "UBERON:0011138", - "UPHENO:0041591", - "HP:0011024", - "UBERON:0001950", - "UPHENO:0087433", - "UPHENO:0085068", - "HP:0005607", - "UPHENO:0074572", - "UPHENO:0019766", - "UPHENO:0077885", - "UPHENO:0001005", - "UPHENO:0086610", - "UPHENO:0020748", - "UPHENO:0002536", - "UBERON:0010688", - "UBERON:0004111", - "UPHENO:0033572", - "CL:0000081", - "UPHENO:0082129", - "UBERON:0001445", - "UBERON:0008811", - "UBERON:0010358", - "HP:0005344", - "UBERON:0002100", - "GO:0050877", - "UBERON:0001684", - "UBERON:0003126", - "UPHENO:0004523", - "UPHENO:0015282", - "UBERON:0002193", - "HP:0000356", - "HP:0011961", + "UPHENO:0086644", + "UPHENO:0076804", + "UPHENO:0046505", + "UPHENO:0077889", + "UBERON:0000161", + "UPHENO:0086824", + "UPHENO:0074228", + "UBERON:0001245", + "UPHENO:0076760", + "UPHENO:0084448", + "UPHENO:0021304", "HP:0010293", - "HP:0002086", - "UBERON:0000467", - "UBERON:0007832", - "HP:0010469", - "UBERON:0000468", - "UBERON:0034713", - "HP:0011446", - "UBERON:0002217", - "HP:0100587", + "UBERON:0013702", + "HP:0002023", + "UBERON:0002355", + "UPHENO:0087509", + "HP:0006265", + "UPHENO:0054261", + "UPHENO:0054299", + "UPHENO:0041203", + "HP:0004325", + "HP:0040194", + "UPHENO:0031839", + "UPHENO:0033559", + "UPHENO:0082794", "HP:0001507", - "UBERON:0001333", - "UPHENO:0088186", - "UPHENO:0080352", - "UBERON:0000025", - "HP:0002664", - "UBERON:0003513", - "UBERON:0000915", + "UBERON:0010543", + "UPHENO:0049874", + "HP:0000174", + "UBERON:0003978", "HP:0001159", - "UBERON:0009569", - "UPHENO:0012541", - "UBERON:0003133", - "UBERON:0003221", - "UPHENO:0076803", - "UBERON:0003037", - "UPHENO:0075945", - "UPHENO:0081584", - "PATO:0000001", - "HP:0002863", - "UPHENO:0076692", - "UBERON:0005181", - "UBERON:0001456", + "UBERON:0005725", + "UPHENO:0086858", + "UBERON:0001555", + "UPHENO:0015317", + "UBERON:0005623", + "UPHENO:0087612", + "UBERON:0004288", + "HP:0009815", + "UPHENO:0015324", + "HP:0001770", + "UPHENO:0086143", + "UBERON:0002389", + "HP:0001654", + "UPHENO:0002839", + "UPHENO:0086614", + "UBERON:0000915", + "HP:0034915", + "UPHENO:0003070", + "UPHENO:0050008", + "UBERON:0002090", + "HP:0006496", + "UBERON:0005956", + "UBERON:0000946", + "CL:0000988", + "UPHENO:0081436", + "UBERON:0002529", + "UBERON:0004381", + "UPHENO:0076810", + "HP:0000069", + "UPHENO:0087070", + "UBERON:0002097", + "UPHENO:0015319", + "UPHENO:0082900", + "UBERON:0000948", + "UBERON:0002084", + "UPHENO:0015327", + "UBERON:0019221", + "HP:0000492", + "UPHENO:0080382", + "HP:0200006", + "UBERON:0001474", + "UPHENO:0063722", + "UBERON:0000117", + "UBERON:0034921", + "UPHENO:0003085", + "GO:0030154", + "UBERON:0004573", + "UBERON:0015052", + "HP:0032039", + "HP:0030669", + "UBERON:0010912", + "UPHENO:0086144", + "UPHENO:0021791", + "UBERON:0000179", + "UBERON:0000014", + "UPHENO:0086680", + "UPHENO:0076761", + "HP:0000518", + "HP:0001924", + "UPHENO:0018424", + "UBERON:0000965", + "UPHENO:0087578", + "UBERON:0005389", + "HP:0000508", + "GO:0048468", + "UPHENO:0087214", + "GO:0060562", + "UPHENO:0041644", + "UPHENO:0041667", + "UPHENO:0086699", + "UBERON:0010913", + "UBERON:0005726", + "UPHENO:0086628", + "UPHENO:0021517", + "UPHENO:0063621", + "HP:0010978", + "UPHENO:0086100", + "UPHENO:0003048", + "HP:0005105", + "HP:0011994", + "UPHENO:0002907", + "UPHENO:0084447", + "HP:0100790", + "HP:0010935", + "UBERON:0002268", + "UPHENO:0085330", + "UBERON:0003129", + "UPHENO:0002642", + "UBERON:0010740", + "UBERON:0000004", + "UPHENO:0063595", + "HP:0000929", + "UBERON:0010323", "UPHENO:0087814", - "UPHENO:0082875", - "UPHENO:0080221", - "UPHENO:0001002", - "GO:0001838", - "UPHENO:0010795", - "GO:0050890", - "NBO:0000313", - "UPHENO:0041041", - "UPHENO:0082356", - "UPHENO:0046538", - "HP:0002060", - "HP:0000483", + "UBERON:0007832", + "HP:0000415", + "HP:0100547", + "HP:0000144", + "UPHENO:0075852", + "HP:0000080", + "UBERON:0001008", + "UBERON:0012241", + "UPHENO:0002790", + "UBERON:5101466", + "HP:0032076", + "UBERON:0001556", + "UBERON:0000947", + "HP:0001574", + "HP:0010936", + "UBERON:8450002", + "HP:0000079", + "HP:0010438", + "HP:0000118", + "UPHENO:0005995", + "UPHENO:0020068", "UBERON:0007830", - "UPHENO:0041644", - "NCBITaxon:131567", - "UBERON:0007823", - "UPHENO:0002219", - "HP:0000795", - "UPHENO:0005433", - "UPHENO:0005518", - "UPHENO:0087816", - "UPHENO:0086122", - "UPHENO:0015290", - "UBERON:0002082", - "UBERON:0001890", - "UPHENO:0088115", - "HP:0003330", - "UPHENO:0088185", - "UPHENO:0087334", - "UBERON:0013765", - "UBERON:0010191", - "UBERON:0004119", - "UBERON:0001460", - "UBERON:0000466", - "UBERON:0000033", - "UBERON:0005440", - "CL:0000039", - "HP:0006101", - "UPHENO:0084816", + "HP:0200005", + "UPHENO:0065599", + "HP:0000252", + "HP:0003272", + "UBERON:0002472", + "HP:0002977", + "UPHENO:0080200", + "HP:0100886", + "UPHENO:0020888", + "UBERON:0001893", + "UPHENO:0087518", + "UPHENO:0075195", + "UBERON:0005899", + "UPHENO:0085984", + "CL:0000586", + "UBERON:0012359", + "HP:0004348", + "HP:0002715", + "UPHENO:0086045", + "UBERON:0001449", + "UBERON:0000178", + "HP:0011893", + "HP:0010987", + "HP:0004377", + "UPHENO:0063565", + "HP:0001392", + "UPHENO:0088321", + "UPHENO:0004459", + "UPHENO:0003020", + "UPHENO:0004536", + "UPHENO:0003116", + "UBERON:0002390", + "UPHENO:0088319", + "UBERON:0000949", + "UBERON:0001733", + "UPHENO:0085875", + "UPHENO:0035147", + "UBERON:0002387", + "CL:0000255", + "CL:0000219", + "UPHENO:0002948", + "HP:0001881", + "UBERON:0003113", + "UPHENO:0041212", + "UPHENO:0085410", + "UPHENO:0001440", + "UPHENO:0000541", + "HP:0002031", + "HP:0001373", + "UBERON:0012476", + "UPHENO:0000543", + "UBERON:0002423", + "UBERON:0002365", + "UBERON:0002330", + "HP:0002012", + "UBERON:0015204", + "UPHENO:0080126", + "UBERON:0005172", + "UPHENO:0002803", + "HP:0000818", + "UPHENO:0084767", + "UBERON:0000916", + "UBERON:0002417", + "NBO:0000417", + "HP:0000924", + "UPHENO:0074572", + "UBERON:0006925", + "UBERON:0002368", "CL:0000408", - "UBERON:0006555", - "BFO:0000001", - "GO:0016331", - "CL:0000232", - "HP:0002623", - "UPHENO:0004508" - ], - "has_phenotype_closure_label": [ - "decreased biological_process in skin of body", - "decreased biological_process in independent continuant", - "abnormal platelet morphology", - "Abnormal platelet morphology", - "abnormally decreased number of myeloid cell", - "serotonin secreting cell", - "Thrombocytopenia", - "abnormally decreased number of platelet", - "blood", - "abnormally decreased number of cell in the independent continuant", - "haemolymphatic fluid", - "abnormally decreased number of leukocyte in the blood", - "motile cell", - "Leukopenia", - "Abnormal immune system morphology", - "Abnormal cellular immune system morphology", - "Abnormal leukocyte morphology", - "abnormally decreased number of anatomical entity", - "Abnormal leukocyte count", - "abnormal number of anatomical enitites of type leukocyte", - "metabolic process", - "Abnormal cellular physiology", - "decreased size of the multicellular organism", - "Short stature", - "decreased height of the multicellular organism", - "myeloid cell", - "myeloid cell homeostasis", - "oxygen accumulating cell", - "hematopoietic cell", - "cell differentiation", - "cell development", - "Pyridoxine-responsive sideroblastic anemia", - "myeloid cell differentiation", - "Anemia", - "abnormal erythroid lineage cell morphology", - "abnormal hematopoietic cell morphology", - "anucleate cell", - "Abnormal erythrocyte morphology", - "Aplasia/Hypoplasia of the radius", - "radius bone", - "Almond-shaped palpebral fissure", - "Abnormal shape of the palpebral fissure", - "abnormal size of palpebral fissure", - "Short palpebral fissure", - "abnormally localised testis", - "abnormally localised anatomical entity", - "Abnormality of the lower urinary tract", - "lower urinary tract", - "renal pelvis/ureter", - "abnormal ureter morphology", - "Abnormality of the ureter", - "ureter", - "Abnormal ureter morphology", - "aplasia or hypoplasia of radius bone", - "Abnormal renal physiology", - "Renal insufficiency", - "non-functional anatomical entity", - "Puberty and gonadal disorders", - "abnormal incomplete closing of the secondary palate", - "High palate", - "increased height of the secondary palate", - "increased size of the head", - "skin of head", - "Epicanthus", - "abnormal skin of face morphology", - "increased length of the epicanthal fold", - "head or neck skin", - "epicanthal fold", - "abnormal skin of head morphology", - "Facial asymmetry", - "sloped anatomical entity", - "abnormal shape of forehead", - "sloped forehead", - "abnormal facial skeleton morphology", - "abnormal shape of palpebral fissure", - "Aplasia/Hypoplasia of the mandible", - "abnormal jaw skeleton morphology", - "abnormal mandible morphology", - "homeostatic process", - "Abnormal mandible morphology", - "Abnormal jaw morphology", - "anatomical entity hypoplasia in face", - "jaw skeleton", - "Dolichocephaly", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "facial bone hypoplasia", - "aplasia or hypoplasia of mandible", - "dentary", - "mandible hypoplasia", - "bone of lower jaw", - "abnormal immune system morphology", - "decreased size of the mandible", - "Aplasia/Hypoplasia of facial bones", - "abnormal asymmetry of anatomical entity", - "decreased sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal radius bone morphology", - "Hearing abnormality", - "chemosensory system", - "abnormal nose morphology", - "abnormal asymmetry of face", - "internal naris atresia", - "abnormal number of anatomical enitites of type hematopoietic cell", - "naris", - "olfactory organ", - "abnormal nose", - "olfactory system", - "Abnormal nasal morphology", - "abnormal posterior nasal aperture morphology", - "Abnormality of the choanae", - "abnormal lower urinary tract", - "posterior nasal aperture atresia", - "Strabismus", - "Abnormality of vision", - "Hypopigmentation of the skin", - "sensory perception", - "visual perception", - "Visual impairment", - "abnormal urethra", - "abnormal sensory perception", - "sensory perception of light stimulus", - "decreased qualitatively visual perception", - "Proptosis", - "abnormal size of eyeball of camera-type eye", - "Microphthalmia", - "Abnormality of globe size", - "Abnormality of the palpebral fissures", - "Slanting of the palpebral fissure", - "abnormality of internal ear physiology", - "vestibulo-ocular reflex", - "Nystagmus", - "physiologic nystagmus", - "eye movement", - "abnormal eye movement", - "Functional abnormality of the inner ear", - "abnormal internal ear", - "abnormality of ear physiology", - "internal ear", - "female reproductive system", - "abnormal internal female genitalia morphology", - "Abnormality of metabolism/homeostasis", - "abnormal female reproductive organ morphology", - "shape uterus", - "Abnormality of the uterus", - "decreased qualitatively sensory perception of sound", - "subdivision of oviduct", - "bicornuate uterus", - "abnormal female reproductive system morphology", - "abnormal uterus", - "Bicornuate uterus", - "sensory perception of sound", - "female reproductive organ", - "uterus", - "female organism", - "skin of eyelid", - "bicornuate anatomical entity", - "internal female genitalia", - "decreased qualitatively pigmentation in independent continuant", - "abnormal behavior", - "neuromuscular process", - "voluntary musculoskeletal movement", - "abnormal response to external stimulus", - "response to external stimulus", - "Abnormal reflex", - "Abnormality of movement", - "voluntary movement behavior", - "body part movement", - "behavior process", - "reflex", - "abnormal voluntary movement behavior", - "decreased qualitatively biological_process in independent continuant", - "abnormal behavior process", - "decreased embryo development", - "Hypogonadism", - "abnormal umbilicus morphology", - "Abnormal umbilicus morphology", - "biogenic amine secreting cell", - "changed embryo development rate", - "abdominal wall", - "Hernia", - "connective tissue", - "abnormal incomplete closing of the abdominal wall", - "herniated anatomical entity", - "abnormal voluntary musculoskeletal movement", - "Abnormality of the abdominal wall", - "abnormal cardiac atrium morphology", - "cardiac atrium", - "abnormal cardiac atrium morphology in the independent continuant", - "interatrial septum", - "abnormal interatrial septum morphology", - "eukaryotic cell", - "Abnormal cardiac atrium morphology", - "Atrial septal defect", - "abnormally increased volume of anatomical entity", - "abnormal internal naris", - "hypertrophic cardiac ventricle", - "Overriding aorta", - "erythrocyte differentiation", - "Abdominal wall defect", - "Pulmonic stenosis", - "abnormal pulmonary valve morphology", - "aplasia or hypoplasia of skull", - "Abnormal cardiac septum morphology", - "Abnormal right ventricle morphology", - "cardiac septum", - "Abnormal facial skeleton morphology", - "right cardiac chamber", - "abnormal size of heart right ventricle", - "Abnormal ventriculoarterial connection", - "Abnormal ventricular septum morphology", - "abnormal cardiac septum morphology", - "Abnormal connection of the cardiac segments", - "Ventricular hypertrophy", - "hypertrophic heart right ventricle", - "abnormally decreased functionality of the anatomical entity", - "abnormally decreased number of leukocyte in the independent continuant", - "myocardium", - "abnormal myocardium morphology", - "abnormally decreased functionality of the myocardium", - "anatomical entity dysfunction in independent continuant", - "abnormal sensory perception of sound", - "Abnormal myocardium morphology", - "Patent ductus arteriosus", - "Abnormal male urethral meatus morphology", - "vasculature of trunk", - "heart blood vessel", - "embryonic cardiovascular system", - "Abnormal conjugate eye movement", - "Congenital malformation of the great arteries", - "conceptus", - "abnormal coronary vessel morphology", - "abnormal artery morphology in the independent continuant", - "abnormal incomplete closing of the ductus arteriosus", - "abnormal ductus arteriosus morphology", - "outflow tract", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal cardiac ventricle morphology in the heart", - "lower jaw region", - "abnormal uterus morphology", - "valve", - "semi-lunar valve", - "cardiac ventricle", - "outflow tract of ventricle", - "abnormal cardiac valve morphology in the heart", - "abnormal heart left ventricle morphology", - "glans", - "abnormal cardiac ventricle morphology", - "Abnormal aortic valve morphology", - "abnormal cardiac valve morphology in the independent continuant", - "outflow part of left ventricle", - "abnormal cardiac valve morphology", - "primary circulatory organ", - "Abnormal heart valve morphology", - "abnormal embryo development", - "abnormal abdominal wall", - "Abnormal cardiac ventricle morphology", - "thoracic cavity blood vessel", - "abnormal aorta morphology", - "Abnormal morphology of the great vessels", - "cellular developmental process", - "Abnormal aortic morphology", - "aortic system", - "flat anatomical entity in independent continuant", - "Increased head circumference", - "flat longitudinal arch of pes", - "flattened anatomical entity", - "flat anatomical entity", - "Pes planus", - "abnormally fused pedal digit and pedal digit", - "decreased multicellular organism mass", - "Weight loss", - "abnormality of anatomical entity mass", - "abnormality of multicellular organism mass", - "Decreased body weight", - "Decreased multicellular organism mass", - "decreased anatomical entity mass", - "frontal cortex", - "abnormal cerebral cortex morphology", - "prominent anatomical entity", - "cerebral hemisphere gray matter", - "forehead", - "prominent forehead", - "abnormally localised anatomical entity in independent continuant", - "Hypospadias", - "abnormal cranium morphology", - "abnormal shape of frontal cortex", - "cortex of cerebral lobe", - "abnormal neocortex morphology", - "dermal skeleton", - "primary subdivision of cranial skeletal system", - "cranium", - "central nervous system gray matter layer", - "dermal bone", - "non-functional kidney", - "pallium", - "Abnormal uterus morphology", - "central nervous system cell part cluster", - "dermal skeletal element", - "lobe of cerebral hemisphere", - "Abnormality of the forehead", - "cerebral hemisphere", - "great vessel of heart", - "Abnormal shape of the frontal region", - "Hypopigmented skin patches", - "neurocranium", - "dermatocranium", - "cranial bone", - "secretory cell", - "bone of craniocervical region", - "abnormal frontal cortex morphology", - "abnormal neurocranium morphology", - "heart layer", - "intramembranous bone", - "membrane bone", - "abnormal tetrapod frontal bone morphology", - "abnormal forehead", - "abnormal anus", - "Anal atresia", - "anus atresia", - "heart plus pericardium", - "Abnormality of the anus", - "Abnormal ileum morphology", - "abnormal ileum morphology", - "ganglion of peripheral nervous system", - "decreased pigmentation in independent continuant", - "neocortex", - "parasympathetic ganglion", - "decreased length of palpebral fissure", - "abnormal parasympathetic ganglion morphology", - "abnormal enteric ganglion morphology", - "involuntary movement behavior", - "abnormal enteric nervous system morphology", - "abnormal parasympathetic nervous system morphology", - "decreased height of the anatomical entity", - "Abnormality of the autonomic nervous system", - "abnormal autonomic nervous system", - "platelet", - "enteric ganglion", - "autonomic nervous system", - "abnormal ganglion of peripheral nervous system morphology", - "nucleate cell", - "Scoliosis", - "Abnormal peripheral nervous system ganglion morphology", - "abnormal autonomic nervous system morphology", - "Abnormality of femur morphology", - "hindlimb stylopod", - "abnormal hindlimb stylopod morphology", - "abnormal femur morphology", - "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "bone of hip region", - "pelvic girdle skeleton", - "articulation", - "Abnormality of the nose", - "orifice", - "zone of organ", - "Abnormal hip bone morphology", - "trunk bone", - "sensory perception of mechanical stimulus", - "hip", - "appendage girdle region", - "excretory tube", - "hip joint", - "zone of bone organ", - "girdle skeleton", - "Abnormality of lower limb joint", - "anatomical entity dislocation", - "girdle bone/zone", - "hip dislocation", - "Abnormal hip joint morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "skeletal joint", - "abnormal hindlimb joint", - "synovial joint", - "pelvic region element", - "pelvic region of trunk", - "abnormal skeletal joint morphology", - "abnormal joint of girdle morphology", - "Right ventricular hypertrophy", - "abnormal hip joint morphology", - "abnormal synovial joint of pelvic girdle morphology", - "Forearm undergrowth", - "decreased size of the anatomical entity in the independent continuant", - "heart", - "Aplasia/Hypoplasia of the ulna", - "decreased length of forelimb zeugopod bone", - "decreased length of anatomical entity", - "Abnormality of the urethra", - "forelimb zeugopod bone hypoplasia", - "ulna hypoplasia", - "decreased length of anatomical entity in independent continuant", - "interventricular septum", - "Upper limb undergrowth", - "decreased size of the anatomical entity", - "decreased length of long bone", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Lower extremity joint dislocation", - "Limb undergrowth", - "decreased size of the ulna", - "Hypoplasia of the ulna", - "aplasia or hypoplasia of ulna", - "bone element hypoplasia in independent continuant", - "vault of skull", - "abnormal spatial pattern of anatomical entity", - "aorta", - "manual digit 5", - "abnormality of kidney physiology", - "Hyperreflexia", - "anatomical entity atresia", - "enteric nervous system", - "Abnormal 5th finger morphology", - "Deviation of finger", - "Clinodactyly of the 5th finger", - "Deviation of the 5th finger", - "deviation of manual digit 5 towards the middle", - "Finger clinodactyly", - "deviation of anatomical entity towards the middle", - "deviation of anatomical entity", - "Decreased bone element mass density", - "Decreased anatomical entity mass density", - "ossification", - "Abnormality of bone mineral density", - "Syndactyly", - "Finger syndactyly", - "abnormally fused manual digit and manual digit", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "Aplasia/hypoplasia involving the skeleton", - "Aplasia/hypoplasia involving bones of the upper limbs", - "anatomical entity hypoplasia", - "Aplasia/hypoplasia involving bones of the hand", - "Aplasia/Hypoplasia of fingers", - "aplasia or hypoplasia of skeleton", - "Hypermelanotic macule", - "increased pigmentation in skin of body", - "increased pigmentation in independent continuant", - "increased qualitatively biological_process in independent continuant", - "Cafe-au-lait spot", - "deviation of manual digit 5", - "increased qualitatively biological_process", - "abnormally formed anatomical entity", - "Abnormal uvea morphology", - "abnormal iris morphology", - "Aplasia/Hypoplasia affecting the eye", - "joint of girdle", - "abnormal uvea morphology", - "anterior chamber of eyeball", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "chamber of eyeball", - "abnormal number of anatomical enitites of type platelet", - "uvea", - "Abnormal anterior chamber morphology", - "Abnormality iris morphology", - "Ocular anterior segment dysgenesis", - "abnormally formed anterior chamber of eyeball", - "iris", - "Renal hypoplasia/aplasia", - "zone of skin", - "abnormal palatine uvula morphology", - "Abnormal uvula morphology", - "midface", - "Abnormal oral cavity morphology", - "secondary palate", - "soft palate", - "anatomical cavity", - "Aplasia/Hypoplasia of the uvula", - "abnormal response to stimulus", - "morphological feature", - "abnormal blood cell", - "ganglion", - "abnormal pigmentation in independent continuant", - "abnormal anterior chamber of eyeball morphology", - "abnormal mouth", - "Abnormal soft palate morphology", - "abnormal size of multicellular organism", - "Abnormality of the abdominal organs", - "abnormal mouth morphology", - "Abnormality of the inner ear", - "abnormal vein morphology", - "Abnormal venous morphology", - "Cleft palate", - "abnormal anatomical entity morphology in the pelvic complex", - "Abnormality of the upper urinary tract", - "abnormal physiologic nystagmus", - "skeleton of pelvic complex", - "respiratory airway", - "kidney", - "oviduct", - "Abnormal localization of kidney", - "Sloping forehead", - "anterior uvea", - "abnormal kidney morphology", - "Abnormality of the cardiovascular system", - "hindlimb", - "Clubbing of toes", - "Orofacial cleft", - "Abnormal toe morphology", - "leukocyte", - "clavate anatomical entity", - "abnormal bone of pelvic complex morphology", - "abnormal skin of body", - "concave 3-D shape anatomical entity", - "posterior region of body", - "abnormal embryo morphology", - "abnormal upper urinary tract", - "Abnormal autonomic nervous system morphology", - "Abnormal midface morphology", - "abnormal pedal digit morphology", - "abdominal segment bone", - "3-D shape anatomical entity", - "longitudinal arch of pes", - "pedal digitopodium region", - "Cryptorchidism", - "synovial joint of pelvic girdle", - "pes", - "sensory system", - "pedal digit bone", - "Abnormal lower limb bone morphology", - "anatomical system", - "pedal digitopodium bone", - "primary subdivision of skull", - "Aplasia/Hypoplasia of the iris", - "pedal digit phalanx endochondral element", - "Irregular hyperpigmentation", - "hindlimb bone", - "hindlimb long bone", - "Global developmental delay", - "decreased size of the anatomical entity in the pectoral complex", - "leg", - "small intestine", - "Small intestinal stenosis", - "anatomical space", - "intestine", - "internal genitalia", - "pes bone", - "duodenum", - "Abnormal intestine morphology", - "frontal lobe", - "abnormal biological_process in independent continuant", - "ventricle of nervous system", - "pedal digit plus metapodial segment", - "Clinodactyly", - "growth", - "abnormal skull morphology", - "abnormal renal system morphology", - "hindlimb skeleton", - "Growth abnormality", - "delayed growth", - "Abnormal cardiovascular system physiology", - "hindlimb joint", - "cavitated compound organ", - "abnormal late embryo", - "abnormal ocular surface region morphology", - "abnormal hindlimb morphology", - "amniotic fluid", - "Abnormality of the amniotic fluid", - "Arteriovenous malformation", - "abnormal anus morphology", - "Abnormality of prenatal development or birth", - "shape forehead", - "abnormal soft palate morphology", - "Oligohydramnios", - "abnormally protruding eyeball of camera-type eye", - "cerebrospinal fluid", - "Aplasia/Hypoplasia affecting the uvea", - "Abnormal cerebrospinal fluid morphology", - "Abnormal erythroid lineage cell morphology", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "abnormal trachea morphology", - "upper digestive tract", - "abnormal cerebrospinal fluid morphology", - "immaterial entity", - "Toe syndactyly", - "trunk", - "pedal digit", - "Abnormality of globe location", - "musculature of body", - "ventricular system of brain", - "Hypertelorism", - "abnormal visual perception", - "increased length of the anatomical line between pupils", - "male germ cell", - "anatomical line", - "pelvic appendage", - "increased anatomical entity length in independent continuant", - "Cardiomyopathy", - "abnormal oral cavity morphology", - "abnormal location of anatomical entity", - "hypothalamus-pituitary axis", - "abnormal hypothalamus-pituitary axis", - "nervous system process", - "exocrine system", - "kinesthetic behavior", - "flattened anatomical entity in independent continuant", - "anatomical entity hypoplasia in independent continuant", - "blood vessel", - "hepatobiliary system", - "Intrauterine growth retardation", - "abdomen", - "liver", - "Abnormality of the endocrine system", - "abnormal brain ventricle morphology", - "Displacement of the urethral meatus", - "abnormal size of brain ventricle", - "Ventriculomegaly", - "Abnormal cerebral ventricle morphology", - "increased size of the anatomical entity", - "multi cell part structure", - "abnormality of internal male genitalia physiology", - "abnormal brain ventricle/choroid plexus morphology", - "hemopoiesis", - "Abnormal vestibulo-ocular reflex", - "femur", - "Metazoa", - "opaque lens of camera-type eye", - "Abnormal ear morphology", - "abnormal external ear", - "Abnormality of the outer ear", - "abnormal number of anatomical entities of type anatomical entity in blood", - "skeleton of pedal acropodium", - "abnormal external ear morphology", - "Abnormality of the ear", - "Abnormal pinna morphology", - "Abnormal frontal bone morphology", - "abdominal segment element", - "digit 1 plus metapodial segment", - "abnormal ear", - "external ear", - "abnormal number of anatomical enitites of type sperm", - "decreased biological_process", - "Cataract", - "semen", - "reproductive process", - "bony vertebral centrum", - "Decreased fertility in males", - "reproduction", - "abnormal ear morphology", - "Abnormal internal genitalia", - "brain ventricle", - "abnormal closing of the anatomical entity", - "Abnormal testis morphology", - "subdivision of skeleton", - "abnormal anatomical entity, curved", - "sexual reproduction", - "developmental process involved in reproduction", - "segment of pes", - "multicellular organismal reproductive process", - "skeleton of pedal digitopodium", - "abnormal reproductive process", - "skin of face", - "decreased qualitatively developmental process", - "multicellular organismal movement", - "Abnormal atrial septum morphology", - "absent anatomical entity in the semen", - "abnormal anatomical entity length", - "abnormal number of anatomical enitites of type cell", - "germ line cell", - "cardiac chamber", - "abnormal anatomical entity morphology", - "changed developmental process rate", - "Hip dislocation", - "malformed anatomical entity", - "Abnormal peripheral nervous system morphology", - "root", - "abnormal multicellular organismal reproductive process", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormally fused anatomical entity and anatomical entity", - "aplasia or hypoplasia of palatine uvula", - "absent gamete", - "digit 5", - "venous blood vessel", - "Functional abnormality of male internal genitalia", - "anatomical wall", - "absent sperm in the semen", - "Abnormality of the liver", - "obsolete multicellular organism reproduction", - "Azoospermia", - "decreased pigmentation in multicellular organism", - "Sideroblastic anemia", - "Non-obstructive azoospermia", - "increased biological_process in skin of body", - "abnormal cornea, asymmetrically curved", - "absent anatomical entity in the multicellular organism", - "Abnormal heart morphology", - "Multiple cafe-au-lait spots", - "pelvic complex", - "sperm", - "deviation of digit towards the middle", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "increased size of the anatomical entity in independent continuant", - "absent anatomical entity in the independent continuant", - "decreased qualitatively biological_process", - "specifically dependent continuant", - "Abnormal spermatogenesis", - "Micrognathia", - "abnormal internal genitalia", - "Abnormality of the face", - "decreased qualitatively reproductive process", - "abnormal heart right ventricle morphology", - "Abnormal toe phalanx morphology", - "Abnormal ganglion morphology", - "abnormal anatomical entity mass density", - "male gamete generation", - "decreased developmental process", - "abnormal gamete generation", - "abnormal developmental process involved in reproduction", - "abnormal interventricular septum morphology", - "abnormal anatomical entity morphology in the heart", - "prepuce", - "Decreased fertility", - "integument", - "pigmentation", - "brain ventricle/choroid plexus", - "abnormal vault of skull", - "Abnormality of skin morphology", - "Abnormality of the skin", - "abnormal craniocervical region morphology", - "abnormal integument", - "Abnormal oral morphology", - "abnormal skin of body morphology", - "Abnormality of brain morphology", - "erythrocyte homeostasis", - "abnormal arch of centrum of vertebra", - "venous system", - "Abnormal forebrain morphology", - "abnormal anatomical entity morphology in the brain", - "abnormal telencephalon morphology", - "Abnormal involuntary eye movements", - "aplasia or hypoplasia of anatomical entity", - "abnormal pes morphology", - "All", - "organism", - "increased size of the heart right ventricle", - "Abnormal skull morphology", - "embryonic tissue", - "Opisthokonta", - "reproductive organ", - "digitopodium bone", - "organism substance", - "eye", - "Aplasia/Hypoplasia of the testes", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormality of reproductive system physiology", - "regional part of brain", - "Microcephaly", - "increased qualitatively response to stimulus", - "endocrine system", - "skull", - "abnormal size of anatomical entity", - "aplasia or hypoplasia of telencephalon", - "abnormal leukocyte morphology", - "abnormal brain morphology", - "skeleton of pes", - "stylopod", - "organ part", - "immune system", - "renal system", - "esophagus", - "Abnormality of the urinary system physiology", - "skeleton of lower jaw", - "bone of appendage girdle complex", - "Unusual infection", - "excretory system", - "abnormal renal system", - "Abnormality of the immune system", - "palpebral fissure", - "abnormally fused pedal digit and anatomical entity", - "autonomic ganglion", - "deviation of manual digit towards the middle", - "Recurrent urinary tract infections", - "Abnormality of the urinary system", - "Ptosis", - "Craniofacial cleft", - "ductus arteriosus", - "neuron projection bundle", - "abnormal eyelid morphology", - "intromittent organ", - "Abnormality of skin pigmentation", - "autopodial extension", - "eyelid", - "abnormal camera-type eye morphology", - "Abnormal male reproductive system physiology", - "drooping eyelid", - "organ system subdivision", - "Abnormal eyelid morphology", - "anatomical line between pupils", - "system development", - "ocular adnexa", - "tissue morphogenesis", - "abnormal manus morphology", - "Abnormality of immune system physiology", - "multi organ part structure", - "Meckel diverticulum", - "transparent eye structure", - "Abnormal lens morphology", - "lens of camera-type eye", - "abnormal immune system", - "neural tube", - "opaque anatomical entity", - "abnormal anatomical entity morphology in the manus", - "Abnormality of skull size", - "abnormal manus", - "ventricular system of central nervous system", - "acropodium region", - "neural tube closure", - "manual digit 1", - "abnormal nervous system", - "manual digit plus metapodial segment", - "abnormal shape of external ear", - "skeleton of manus", - "gonad", - "abnormal zone of skin morphology", - "postcranial axial skeletal system", - "digit 1 digitopodial skeleton", - "asymmetrically curved anatomical entity", - "forelimb zeugopod bone", - "manual digit digitopodial skeleton", - "skeleton of manual acropodium", - "Abnormal digit morphology", - "abnormal manual digit morphology in the manus", - "Hernia of the abdominal wall", - "femur endochondral element", - "Abnormality of head or neck", - "Abnormality of reproductive system physiology", - "digit plus metapodial segment", - "abnormal kidney", - "trunk blood vessel", - "bone of pelvic complex", - "Abnormal bone structure", - "acropodial skeleton", - "abnormal bone element mass density", - "brain", - "manual digitopodium region", - "Hypertrophic cardiomyopathy", - "manus", - "cardiac valve", - "decreased spermatogenesis", - "abnormal prepuce of penis morphology", - "abnormal endocrine system", - "limb long bone", - "manual digit bone", - "Abnormal thumb morphology", - "Eumetazoa", - "segment of autopod", - "jaw region", - "manual digit phalanx endochondral element", - "abnormal manual digit morphology in the independent continuant", - "vein", - "internal male genitalia", - "Abnormal ocular adnexa morphology", - "Abnormal pulmonary valve physiology", - "Abnormality of thumb phalanx", - "Abnormal finger phalanx morphology", - "arterial system", - "abnormal phalanx of manus morphology", - "septum", - "autopodial skeleton", - "coronary vessel", - "abnormal anatomical entity, asymmetrically curved", - "abnormal anatomical entity morphology in the skeleton of manus", - "facial bone", - "Hearing impairment", - "abnormal digit", - "abnormally fused anatomical entity and manual digit", - "digestive system gland", - "abnormal ganglion morphology", - "phalanx", - "manual digit 1 phalanx endochondral element", - "autopod endochondral element", - "autopod bone", - "phalanx of manus", - "main body axis", - "manual digit", - "tetrapod frontal bone", - "limb joint", - "abnormal phalanx morphology", - "male reproductive system", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "future central nervous system", - "abnormally fused digit and anatomical entity", - "Growth delay", - "abnormal location of eyeball of camera-type eye", - "digitopodium region", - "Abnormality of the vertebral column", - "ecto-epithelium", - "embryonic structure", - "skeletal joint dislocation", - "developmental process", - "manual digit 1 digitopodial skeleton", - "abnormal vertebral column", - "abnormality of camera-type eye physiology", - "cranial nerve", - "embryonic epithelial tube formation", - "Abnormality of the peripheral nervous system", - "Hypoplastic facial bones", - "abnormal semi-lunar valve morphology", - "Reduced bone mineral density", - "Macule", - "abnormal reproductive system", - "anatomical structure formation involved in morphogenesis", - "Choanal atresia", - "Abnormal cerebral cortex morphology", - "anatomical structure development", - "male urethra", - "Abnormal vascular morphology", - "embryonic morphogenesis", - "Abnormal eye physiology", - "Abnormality of the lower limb", - "abnormal erythrocyte morphology", - "postcranial axial skeleton", - "Abnormal cellular phenotype", - "vertebral column", - "abnormal long bone morphology", - "paired limb/fin skeleton", - "morphogenesis of an epithelium", - "articular system", - "neural tube development", - "tube morphogenesis", - "innominate bone", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormally increased number of anatomical entity", - "abnormal blood cell morphology", - "subdivision of organism along appendicular axis", - "abnormal embryonic tissue morphology", - "abnormal myeloid cell morphology", - "Abnormality of the nervous system", - "respiratory tract", - "abnormal cell morphology", - "primary neural tube formation", - "neural tube formation", - "Abnormal small intestine morphology", - "abnormal secondary palate morphology", - "digestive system", - "abnormal neural tube closure", - "erythrocyte", - "telencephalon", - "Hydrocephalus", - "manual digit 1 plus metapodial segment", - "Abnormal vertebral morphology", - "Spina bifida", - "Abnormality of mental function", - "tissue", - "abnormally decreased number of cell", - "abnormal intestine morphology", - "abnormal vertebra morphology", - "abnormal anatomical entity topology in independent continuant", - "Abnormal myeloid cell morphology", - "palatine uvula", - "nervous system", - "morphogenesis of embryonic epithelium", - "Abnormality of the kidney", - "Abnormality of male external genitalia", - "limb segment", - "cerebral cortex", - "gray matter of forebrain", - "abnormal incomplete closing of the arch of centrum of vertebra", - "dorsum", - "roof of mouth", - "absent anatomical entity", - "central nervous system", - "circulatory organ", - "abnormal outflow part of left ventricle morphology", - "abnormality of male reproductive system physiology", - "glandular system", - "reflexive behavior", - "abnormal tube formation", - "Abnormality of chromosome stability", - "Abnormal blood vessel morphology", - "spinal cord", - "abnormal limb bone morphology", - "abnormal opening of the anatomical entity", - "abnormal number of anatomical enitites of type myeloid cell", - "Vertebral arch anomaly", - "Frontal bossing", - "axial skeleton plus cranial skeleton", - "gray matter of telencephalon", - "parasympathetic nervous system", - "prepuce of penis", - "vertebra", - "abnormality of anatomical entity physiology", - "artery", - "vasculature", - "Abnormal anus morphology", - "Abnormality of limb bone", - "Decreased head circumference", - "sense organ", - "subdivision of skeletal system", - "circulatory system", - "abnormally decreased number of anatomical entity in the multicellular organism", - "cardiovascular system", - "process", - "epithelium", - "abnormal neural tube morphology", - "Abnormal respiratory system physiology", - "abnormal bone of pectoral complex morphology", - "urethral opening", - "camera-type eye", - "shape longitudinal arch of pes", - "Abnormality of the upper limb", - "embryo development", - "anatomical projection", - "Abnormal reproductive system morphology", - "systemic arterial system", - "viscus", - "arterial blood vessel", - "Abnormal eye morphology", - "abnormal cardiovascular system morphology", - "abnormally formed anatomical entity in independent continuant", - "abnormal anterior segment of eyeball morphology", - "thoracic segment of trunk", - "umbilicus", - "vascular system", - "dorsal region element", - "Abnormality of the vasculature", - "abnormal cerebral hemisphere morphology", - "common carotid artery plus branches", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal cardiovascular system", - "abnormal common carotid artery plus branches morphology", - "quality", - "epithelial tube", - "abnormal digestive system morphology", - "Abnormal systemic arterial morphology", - "abnormal duodenum morphology", - "Abnormal cranial nerve physiology", - "nerve", - "peripheral nervous system", - "Abnormal neural tube morphology", - "paralysed anatomical entity", - "Abnormal pelvic girdle bone morphology", - "Clubbing", - "Upslanted palpebral fissure", - "forebrain", - "Eukaryota", - "ileum", - "abnormal synovial joint morphology", - "abnormal peripheral nervous system", - "aplasia or hypoplasia of uvea", - "future nervous system", - "increased reflex", - "forelimb", - "transudate", - "shape cornea", - "bone of free limb or fin", - "abnormal olfactory system morphology", - "Abnormal appendicular skeleton morphology", - "abnormal incomplete closing of the anatomical entity", - "pectoral appendage", - "bodily fluid", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormal limb long bone morphology", - "cranial nerve related reflex", - "Abnormal upper limb bone morphology", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal nervous system morphology", - "abnormal incomplete closing of the interatrial septum", - "forelimb zeugopod", - "multi-limb segment region", - "bone of jaw", - "organ", - "Abnormal cornea morphology", - "abnormal female reproductive system", - "abnormal nervous system morphology", - "vasculature of organ", - "Cranial nerve paralysis", - "abnormal cell", - "abnormal innominate bone morphology", - "bone element", - "digit 1", - "upper jaw region", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "left cardiac chamber", - "abnormal vascular system morphology", - "Abnormal foot morphology", - "visual system", - "thoracic segment organ", - "limb bone", - "cranial skeletal system", - "abnormal vertebral column morphology", - "organism subdivision", - "vestibulo-auditory system", - "absent germ cell", - "paired limb/fin", - "Recurrent infections", - "response to stimulus", - "brain gray matter", - "forelimb endochondral element", - "Abnormal curvature of the vertebral column", - "pectoral appendage skeleton", - "Conotruncal defect", - "abnormal limb", - "abnormal peripheral nervous system morphology", - "simple eye", - "abnormal forelimb morphology", - "Abnormal carotid artery morphology", - "skeletal element", - "abnormal bony vertebral centrum morphology", - "internal naris", - "non-connected functional system", - "abnormal forelimb zeugopod morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormality of multicellular organism height", - "Abnormal forearm bone morphology", - "abnormal forehead morphology", - "Abnormal form of the vertebral bodies", - "Aplasia/hypoplasia of the extremities", - "skeleton of digitopodium", - "skeleton of pectoral complex", - "abnormal systemic artery morphology", - "abnormal manual digit 5 morphology", - "Abnormality of the integument", - "vertebral centrum element", - "urethra", - "paired limb/fin segment", - "external soft tissue zone", - "Abnormal skeletal morphology", - "Tetralogy of Fallot", - "abnormal size of skull", - "Abnormality of the musculoskeletal system", - "abnormal development of anatomical entity", - "ulna", - "trunk region element", - "anatomical entity", - "pectoral complex", - "abnormal great vessel of heart morphology", - "abnormal midface morphology", - "abnormal appendicular skeleton morphology", - "immune system process", - "tunica fibrosa of eyeball", - "abnormal developmental process", - "bone of pectoral complex", - "forelimb skeleton", - "abdominal segment of trunk", - "digit", - "endoderm-derived structure", - "Abnormal respiratory system morphology", - "Abnormal morphology of ulna", - "urethral meatus", - "layer of muscle tissue", - "head bone", - "Abnormality of the skeletal system", - "increased biological_process", - "arm bone", - "appendage girdle complex", - "abnormally fused manual digit and anatomical entity", - "endochondral bone", - "abnormally decreased number of leukocyte", - "irregular bone", - "abnormal ulna morphology", - "arch of centrum of vertebra", - "abnormal musculoskeletal movement", - "Abnormality of the respiratory system", - "abnormal skeletal system", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "Abnormal pulmonary valve morphology", - "Abnormal hand morphology", - "abnormal aortic valve morphology", - "Tracheoesophageal fistula", - "abnormality of cranial nerve physiology", - "Abnormality of body height", - "Abnormal palate morphology", - "Abnormality of limb bone morphology", - "phalanx of pes", - "biological_process", - "nervous system development", - "abnormal heart layer morphology", - "Abnormal forearm morphology", - "Abnormality of the hypothalamus-pituitary axis", - "penis", - "abnormal phalanx of pes morphology", - "Morphological central nervous system abnormality", - "phalanx endochondral element", - "limb skeleton subdivision", - "decreased qualitatively pigmentation", - "abnormal ocular adnexa", - "Hydroureter", - "posterior nasal aperture", - "abnormally fused anatomical entity and digit", - "Neurodevelopmental abnormality", - "abnormal penis morphology", - "male urethral meatus", - "Abnormality of the female genitalia", - "abnormal testis morphology", - "Abnormal esophagus morphology", - "abnormal anterior uvea morphology", - "reproductive system", - "abnormal sensory perception of light stimulus", - "exocrine gland", - "abnormal male reproductive system morphology", - "entity", - "Abnormality of the curvature of the cornea", - "abnormally decreased functionality of the gonad", - "skeleton of manual digitopodium", - "axial skeletal system", - "decreased biological_process in multicellular organism", - "hypertrophic multicellular anatomical structure", - "Abnormal joint morphology", - "spermatogenesis", - "absent sperm", - "abnormal liver", - "abnormally fused anatomical entity and pedal digit", - "Aplasia/hypoplasia involving forearm bones", - "abnormality of nervous system physiology", - "abnormality of anatomical entity height", - "abnormal genitourinary system", - "Abnormality of connective tissue", - "aplasia or hypoplasia of eyeball of camera-type eye", - "independent continuant", - "abnormal orbital region", - "shape digit", - "curved anatomical entity", - "long bone", - "Abnormal spinal cord morphology", - "abnormal male reproductive system", - "Hyperpigmentation of the skin", - "epithelium development", - "manual digit 1 or 5", - "reproductive structure", - "obsolete cell", - "male reproductive organ", - "Umbilical hernia", - "abnormal reproductive system morphology", - "thoracic segment blood vessel", - "Abnormality of the gastrointestinal tract", - "Cognitive impairment", - "abnormal external genitalia", - "abnormal cornea morphology", - "Abnormal external genitalia", - "anterior region of body", - "Triphalangeal thumb", - "epithelial tube formation", - "abnormal pelvic girdle bone/zone morphology", - "skeleton of limb", - "multicellular organismal-level homeostasis", - "manus bone", - "nervous system cell part layer", - "skeleton", - "pelvic girdle region", - "individual digit of digitopodial skeleton", - "developing anatomical structure", - "Abnormal preputium morphology", - "integumental system", - "abnormal gamete", - "Abnormal nervous system physiology", - "anatomical structure", - "abnormally increased number of anatomical entity in the independent continuant", - "Morphological abnormality of the gastrointestinal tract", - "upper leg bone", - "Abnormality of the mouth", - "Abnormal penis morphology", - "lateral structure", - "limb", - "Abnormality of the hand", - "appendicular skeletal system", - "increased height of anatomical entity in independent continuant", - "germ cell", - "abnormality of cardiovascular system physiology", - "multicellular organism development", - "abnormal spermatogenesis", - "segment of manus", - "Joint dislocation", - "body proper", - "cellular process", - "Abnormal anterior eye segment morphology", - "abnormal connective tissue", - "aortic valve", - "abnormal eyeball of camera-type eye", - "testis", - "shape eyelid", - "craniocervical region", - "Abnormality of the genital system", - "Deviation of the hand or of fingers of the hand", - "paralysed cranial nerve", - "abnormal vasculature", - "nerve of head region", - "upper urinary tract", - "hindlimb endochondral element", - "abnormally increased number of brain ventricle in the independent continuant", - "delayed biological_process", - "skeletal system", - "Neoplasm", - "system process", - "manual digit 1 phalanx", - "Abnormal calvaria morphology", - "abnormal forelimb zeugopod bone", - "increased height of the anatomical entity", - "external male genitalia", - "upper eyelid", - "Abnormal ear physiology", - "Astigmatism", - "abnormal arm", - "decreased pigmentation in skin of body", - "abnormal small intestine morphology", - "Abnormal cerebral morphology", - "organ subunit", - "organ component layer", - "Ventricular septal defect", - "abnormality of immune system physiology", - "genitourinary system", - "multicellular organismal process", - "anterior segment of eyeball", - "cognition", - "subdivision of head", - "abnormal central nervous system morphology", - "Abnormal renal morphology", - "continuant", - "haploid cell", - "Abnormality of limbs", - "Abnormality of eye movement", - "abnormal alimentary part of gastrointestinal system morphology", - "material entity", - "Abnormal platelet count", - "abnormal head", - "asymmetrically curved cornea", - "face", - "abnormal craniocervical region", - "entire sense organ system", - "pelvic appendage skeleton", - "upper limb segment", - "Abnormal duodenum morphology", - "neural crest-derived structure", - "abdomen element", - "Abnormality of the orbital region", - "cranial neuron projection bundle", - "curvature anatomical entity", - "heart vasculature", - "arm", - "respiratory tube", - "ocular surface region", - "Abnormality of enteric ganglion morphology", - "disconnected anatomical group", - "drooping anatomical entity", - "presumptive structure", - "abnormal limb morphology", - "Abnormal facial shape", - "eyeball of camera-type eye", - "curved anatomical entity in independent continuant", - "Duodenal stenosis", - "musculoskeletal system", - "abnormal nerve", - "Abnormality of refraction", - "appendage", - "homeostasis of number of cells", - "embryo", - "Aganglionic megacolon", - "changed biological_process rate", - "blood cell", - "abnormal spinal cord morphology", - "Atypical behavior", - "Neural tube defect", - "abnormally decreased number of hematopoietic cell", - "tracheobronchial tree", - "protein-containing material entity", - "abnormal autopod region morphology", - "abnormal shape of cornea", - "radius endochondral element", - "Abnormal morphology of the radius", - "abnormal respiratory tube morphology", - "epithelial tube morphogenesis", - "alimentary part of gastrointestinal system", - "abnormal platelet", - "anatomical cluster", - "Abnormality of corneal shape", - "appendicular skeleton", - "Abnormality of blood and blood-forming tissues", - "Abnormal axial skeleton morphology", - "Abnormality of thrombocytes", - "facial skeleton", - "Aplasia/Hypoplasia of the cerebrum", - "abnormal male reproductive organ morphology", - "male organism", - "regional part of nervous system", - "shape anatomical entity", - "digit 5 plus metapodial segment", - "tube closure", - "Abnormal heart valve physiology", - "forelimb bone", - "Abnormal vestibular function", - "abnormal head morphology", - "head", - "oral cavity", - "abnormal respiratory system", - "herniated abdominal wall", - "male gamete", - "Abnormal size of the palpebral fissures", - "abnormality of respiratory system physiology", - "ectoderm-derived structure", - "Abnormal long bone morphology", - "systemic artery", - "abnormal size of head", - "manual digit 5 plus metapodial segment", - "structure with developmental contribution from neural crest", - "anatomical structure morphogenesis", - "orbital region", - "trachea", - "mouth", - "decreased size of the eyeball of camera-type eye", - "Abnormality of the digestive system", - "abnormal cornea, curved", - "abnormal tracheobronchial tree morphology", - "proximo-distal subdivision of respiratory tract", - "chordate embryonic development", - "Short long bone", - "immaterial anatomical entity", - "endochondral element", - "abnormal amniotic fluid", - "Abnormality of the head", - "phenotype", - "anus", - "abnormal digit morphology", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal forebrain morphology", - "erythroid lineage cell", - "pulmonary valve", - "flat bone", - "hematopoietic system", - "Abnormality of body weight", - "subdivision of tube", - "skin of body", - "multi-tissue structure", - "abnormal biological_process", - "abnormal pigmentation", - "lower respiratory tract", - "abnormality of renal system physiology", - "gray matter", - "abnormal ocular adnexa morphology", - "Abnormality of the eye", - "abnormal growth", - "respiratory system", - "changed biological_process rate in independent continuant", - "gamete", - "Neurodevelopmental delay", - "late embryo", - "abnormal external male genitalia", - "digestive tract", - "abnormal ureter", - "abnormal palpebral fissure", - "Abnormality of the male genitalia", - "gland", - "abnormal cardiac atrium morphology in the heart", - "abnormal postcranial axial skeleton morphology", - "abnormal systemic arterial system morphology", - "abnormal shape of continuant", - "neurocranium bone", - "pelvic girdle bone/zone", - "Abnormal peripheral nerve morphology by anatomical site", - "lower limb segment", - "limb endochondral element", - "zeugopod", - "abnormal esophagus morphology", - "behavior", - "anatomical conduit", - "bone element hypoplasia in face", - "blood vasculature", - "cornea", - "increased pigmentation", - "abnormal hematopoietic system", - "anatomical collection", - "embryo development ending in birth or egg hatching", - "subdivision of organism along main body axis", - "glans penis", - "abnormal respiratory system morphology", - "subdivision of trunk", - "abnormally decreased number of anatomical entity in the blood", - "Abnormal morphology of female internal genitalia", - "curvature anatomical entity in independent continuant", - "Phenotypic abnormality", - "heart right ventricle", - "cellular organisms", - "Abnormality of the testis size", - "increased length of the anatomical entity", - "shape anatomical entity in independent continuant", - "Absent testis", - "system", - "Aplasia/Hypoplasia involving bones of the skull", - "abnormal digestive system", - "subdivision of digestive tract", - "abnormal heart morphology", - "tube development", - "heart left ventricle", - "aplasia or hypoplasia of manual digit", - "Neoplasm by anatomical site", - "tube", - "mandible", - "zeugopodial skeleton", - "pedal digit digitopodial skeleton", - "abnormal anatomical entity", - "abnormal limb bone", - "abnormal blood vessel morphology", - "non-material anatomical boundary", - "leg bone", - "Abnormality of digestive system morphology", - "abnormal head bone morphology", - "abnormal leg", - "abnormal artery morphology", - "musculoskeletal movement", - "digit 1 or 5", - "Intellectual disability", - "abnormal vestibulo-ocular reflex", - "Decreased anatomical entity mass", - "abnormal small intestine", - "abnormal penis", - "Abnormal cell morphology", - "thoracic cavity element", - "abnormal phenotype by ontology source", - "multicellular anatomical structure", - "increased biological_process in independent continuant", - "manual digitopodium bone", - "abnormal skeletal system morphology", - "abnormally protruding anatomical entity", - "absent sperm in the independent continuant", - "occurrent", - "clavate digit", - "endocrine gland", - "abnormal incomplete closing of the interventricular septum", - "Abnormal bone ossification", - "Abnormal tracheobronchial morphology", - "Abnormal tracheal morphology", - "abnormal alimentary part of gastrointestinal system", - "tube formation", - "ulna endochondral element", - "autopod region", - "compound organ", - "nose", - "Abnormality of the genitourinary system", - "deviation of manual digit", - "3-D shape anatomical entity in independent continuant", - "digestive system element", - "ear", - "aplasia or hypoplasia of iris", - "Abnormality of the ocular adnexa", - "vessel", - "forelimb long bone", - "cell", - "Spinal dysraphism", - "phenotype by ontology source", - "Abnormality of enteric nervous system morphology", - "gamete generation", - "shape palpebral fissure", - "tissue development", - "Localized skin lesion", - "hemolymphoid system", - "material anatomical entity", - "Short forearm", - "Abnormality of cardiovascular system morphology", - "Hematological neoplasm", - "abnormally fused digit and digit", - "external genitalia", - "abnormal roof of mouth morphology", - "abnormal lens of camera-type eye morphology", - "abnormal face", - "vertebral element", - "Myelodysplasia", - "mesoderm-derived structure", - "increased size of the brain ventricle", - "Anemia of inadequate production", - "multicellular organism" - ], - "has_phenotype_count": 106, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0007600", - "category": "biolink:Disease", - "name": "primary Fanconi syndrome", - "full_name": null, - "deprecated": null, - "description": "A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.", - "xref": ["GARD:9118", "NCIT:C123229", "Orphanet:3337"], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": [ - "FRTS1", - "Fanconi renotubular syndrome 1", - "primary Fanconi renotubular syndrome" - ], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0002749", - "HP:0001324", - "HP:0000117", - "HP:0001510", - "HP:0003774", - "HP:0002150", - "HP:0001944", - "HP:0002206", - "HP:0001943", - "HP:0012622", - "HP:0012606", - "HP:0004912", - "HP:0003537", - "HP:0003234", - "HP:0003081", - "HP:0002900", - "HP:0002659", - "HP:0002653", - "HP:0002148", - "HP:0001824", - "HP:0032943", - "HP:0004918", - "HP:0004910", - "HP:0003646", - "HP:0003149", - "HP:0003126", - "HP:0003076", - "HP:0002909", - "HP:0002049" - ], - "has_phenotype_label": [ - "Osteomalacia", - "Muscle weakness", - "Renal phosphate wasting", - "Growth delay", - "Stage 5 chronic kidney disease", - "Hypercalciuria", - "Dehydration", - "Pulmonary fibrosis", - "Hypoglycemia", - "Chronic kidney disease", - "Renal sodium wasting", - "Hypophosphatemic rickets", - "Hypouricemia", - "Decreased plasma carnitine", - "Increased urinary potassium", - "Hypokalemia", - "Increased susceptibility to fractures", - "Bone pain", - "Hypophosphatemia", - "Weight loss", - "Abnormal urine pH", - "Hyperchloremic metabolic acidosis", - "Bicarbonate-wasting renal tubular acidosis", - "Bicarbonaturia", - "Hyperuricosuria", - "Low-molecular-weight proteinuria", - "Glycosuria", - "Generalized aminoaciduria", - "Proximal renal tubular acidosis" - ], - "has_phenotype_closure": [ - "UPHENO:0046286", - "UPHENO:0068040", - "UPHENO:0051930", - "HP:0001992", - "HP:0031980", - "UPHENO:0068495", - "UPHENO:0080658", - "HP:0003076", - "UPHENO:0051635", - "UPHENO:0068058", - "CHEBI:37622", - "CHEBI:50047", - "CHEBI:33709", - "UPHENO:0068565", - "UPHENO:0068247", - "CHEBI:16541", - "HP:0012610", - "UPHENO:0068024", - "UPHENO:0051688", - "CHEBI:17544", - "UPHENO:0051714", - "UPHENO:0051659", - "UPHENO:0084542", - "UPHENO:0068491", - "UPHENO:0078554", - "UPHENO:0068036", - "HP:0011279", - "HP:0003646", - "HP:0033354", - "UBERON:0000483", - "UBERON:0001231", - "UPHENO:0066927", - "HP:0000124", - "UBERON:0000479", - "UBERON:0003914", - "UBERON:0004819", - "UBERON:0006555", - "UBERON:0009773", - "UBERON:0004211", - "HP:0001947", - "UPHENO:0066943", - "UBERON:0001285", - "UPHENO:0068169", - "UPHENO:0082543", - "HP:0004918", - "UPHENO:0082538", - "UPHENO:0082539", - "HP:0001942", - "HP:0032943", - "HP:0004323", - "UPHENO:0010795", - "UPHENO:0082794", - "UPHENO:0010763", - "UPHENO:0082761", - "UPHENO:0054299", - "HP:0001824", - "HP:0012531", - "HP:0002653", - "CHEBI:24835", - "UBERON:0007684", - "HP:0010930", - "CHEBI:37247", - "HP:0001995", - "CHEBI:36916", - "CHEBI:36914", - "CHEBI:29103", - "HP:0010929", - "UPHENO:0051958", - "HP:0002900", - "UPHENO:0051645", - "UPHENO:0034438", - "CHEBI:36915", - "CHEBI:23906", - "CHEBI:60242", - "CHEBI:25414", - "HP:0003081", - "UPHENO:0068350", - "UPHENO:0051739", - "UPHENO:0046283", - "HP:0012598", - "UPHENO:0068296", - "UPHENO:0051849", - "GO:0032787", - "GO:0005622", - "GO:0043226", - "GO:0005575", - "GO:0006575", - "GO:0006082", - "UPHENO:0051777", - "HP:0025142", - "GO:0006629", - "CHEBI:64709", - "CHEBI:25699", - "HP:0004325", - "GO:0043227", - "UPHENO:0050484", - "CHEBI:35605", - "CHEBI:35757", - "CHEBI:36586", - "HP:0003287", - "UPHENO:0084537", - "UPHENO:0084472", - "HP:0003119", - "UPHENO:0051887", - "HP:0004359", - "UPHENO:0034149", - "UPHENO:0078646", - "CHEBI:22860", - "GO:0044255", - "CHEBI:35284", - "HP:0002795", - "GO:0072521", - "CHEBI:25384", - "UPHENO:0002816", - "UPHENO:0049723", - "UPHENO:0034319", - "CHEBI:17126", - "CHEBI:35381", - "GO:0006577", - "GO:0043436", - "CHEBI:25741", - "HP:0012103", - "GO:0040007", - "HP:0004360", - "UPHENO:0001002", - "CHEBI:24833", - "UPHENO:0086908", - "CHEBI:33833", - "GO:0019752", - "UPHENO:0068110", - "CL:0000000", - "GO:0005623", - "HP:0004354", - "HP:0011843", - "CHEBI:35571", - "CHEBI:25810", - "UPHENO:0034199", - "GO:0046483", - "GO:0034641", - "CHEBI:24651", - "UBERON:0005172", - "UPHENO:0068251", - "CHEBI:26217", - "CHEBI:33671", - "UBERON:0005178", - "CHEBI:24532", - "UPHENO:0051588", - "HP:0010967", - "CHEBI:35552", - "CHEBI:33318", - "CHEBI:38101", - "CHEBI:33575", - "GO:0009987", - "HP:0004352", - "UPHENO:0049748", - "UPHENO:0068064", - "CHEBI:25806", - "CHEBI:18282", - "CHEBI:25367", - "UPHENO:0066781", - "UPHENO:0077826", - "CHEBI:35584", - "UPHENO:0050121", - "UPHENO:0067999", - "HP:0004369", - "CHEBI:33659", - "UPHENO:0078616", - "GO:0048878", - "HP:0012603", - "CHEBI:33595", - "GO:0009112", - "CHEBI:72695", - "CHEBI:33635", - "CHEBI:5686", - "CHEBI:35604", - "HP:0010996", - "CHEBI:37175", - "CHEBI:33504", - "UBERON:0000915", - "UPHENO:0079822", - "UBERON:0013702", - "UPHENO:0068538", - "UPHENO:0034351", - "UPHENO:0051736", - "CHEBI:33259", - "GO:0006631", - "UPHENO:0034217", - "CHEBI:33238", - "HP:0012211", - "CHEBI:24867", - "HP:0002148", - "UPHENO:0066739", - "HP:0000079", - "HP:0002206", - "UPHENO:0051709", - "HP:0002748", - "CHEBI:51143", - "HP:0004912", - "UBERON:0004111", - "HP:0001943", - "UPHENO:0034253", - "UPHENO:0081546", - "CHEBI:36358", - "GO:1901360", - "UPHENO:0046356", - "GO:0043231", - "PR:000050567", - "CHEBI:18133", - "HP:0004910", - "UPHENO:0051704", - "CHEBI:15693", - "UPHENO:0050791", - "UBERON:0000025", - "CHEBI:33832", - "HP:0025354", - "CHEBI:33285", - "CHEBI:17234", - "UBERON:0000178", - "HP:0003355", - "UPHENO:0004459", - "HP:0430071", - "UBERON:0002193", - "HP:0003126", - "UPHENO:0049873", - "GO:0110165", - "CHEBI:78616", - "HP:0001941", - "CHEBI:50860", - "UPHENO:0076286", - "CHEBI:36963", - "UPHENO:0051804", - "CHEBI:32988", - "CHEBI:36962", - "UBERON:0000179", - "HP:0001324", - "UBERON:0002390", - "GO:0071704", - "HP:0011014", - "HP:0011015", - "UPHENO:0050433", - "HP:0001507", - "HP:0001871", - "UPHENO:0051766", - "CHEBI:33917", - "CHEBI:35366", - "UPHENO:0015280", - "GO:0006144", - "CHEBI:36587", - "CHEBI:36357", - "UBERON:0002048", - "CHEBI:38166", - "CHEBI:36360", - "HP:0000119", - "UPHENO:0004536", - "UPHENO:0054261", - "UBERON:0000171", - "GO:0044281", - "CHEBI:33250", - "CHEBI:16646", - "HP:0000077", - "UBERON:0001474", - "UPHENO:0076299", - "CHEBI:26708", - "UPHENO:0051898", - "UBERON:0001005", - "GO:0044238", - "GO:0006807", - "UPHENO:0019970", - "CHEBI:25213", - "UBERON:0015212", - "HP:0012072", - "UBERON:0001558", - "UBERON:0034925", - "UPHENO:0082544", - "CHEBI:33273", - "UBERON:0000065", - "UPHENO:0076294", - "UPHENO:0020584", - "CHEBI:27369", - "UBERON:0000468", - "HP:0012337", - "HP:0002157", - "UPHENO:0082542", - "HP:0002086", - "GO:1901564", - "HP:0010966", - "CHEBI:33521", - "UPHENO:0002448", - "HP:0001944", - "UPHENO:0068054", - "UBERON:0004120", - "UPHENO:0068442", - "CHEBI:26082", - "UPHENO:0050619", - "UBERON:0013522", - "GO:0043229", - "HP:0001939", - "CHEBI:27171", - "UPHENO:0051670", - "UPHENO:0034276", - "GO:0044237", - "GO:0065008", - "UPHENO:0051186", - "UPHENO:0046344", - "UPHENO:0086132", - "UPHENO:0052116", - "HP:0002909", - "HP:0002088", - "UPHENO:0068134", - "UPHENO:0001003", - "UBERON:0000463", - "CHEBI:33579", - "UPHENO:0078592", - "UPHENO:0051619", - "HP:0100529", - "CHEBI:26469", - "UPHENO:0086172", - "UPHENO:0081548", - "UPHENO:0051866", - "UPHENO:0079536", - "HP:0002150", - "UBERON:0000061", - "UPHENO:0076289", - "UPHENO:0048707", - "UPHENO:0049587", - "UBERON:0005090", - "HP:0011042", - "UPHENO:0051712", - "GO:0005737", - "CHEBI:83821", - "UPHENO:0068089", - "UBERON:0009569", - "UBERON:0011676", - "UBERON:0004119", - "GO:0050878", - "GO:0006139", - "UPHENO:0086128", - "UPHENO:0049709", - "HP:0011017", - "UBERON:0002113", - "HP:0033127", - "GO:0009437", - "HP:0040156", - "UPHENO:0020748", - "UBERON:0000170", - "UBERON:0013701", - "UBERON:0011143", - "UBERON:0005177", - "CHEBI:33245", - "UPHENO:0002411", - "HP:0003537", - "GO:0005739", - "HP:0003774", - "CHEBI:29067", - "UPHENO:0081440", - "CHEBI:18059", - "HP:0000083", - "CHEBI:35281", - "HP:0010935", - "UBERON:0002417", - "GO:0055062", - "UPHENO:0080659", - "HP:0011280", - "HP:0012591", - "UBERON:0002100", - "CHEBI:35570", - "UBERON:0000916", - "UBERON:0002075", - "GO:0098771", - "CHEBI:15841", - "UPHENO:0049628", - "HP:0004364", - "PATO:0000001", - "UPHENO:0049874", - "UPHENO:0050116", - "UPHENO:0000543", - "CHEBI:33839", - "GO:0065007", - "GO:0055086", - "UBERON:0000383", - "CHEBI:33674", - "UPHENO:0000541", - "BFO:0000003", - "HP:0006530", - "HP:0011032", - "UPHENO:0081544", - "UPHENO:0077821", - "UPHENO:0002964", - "CHEBI:24431", - "UBERON:0000072", - "CHEBI:35406", - "CHEBI:33582", - "GO:0001503", - "HP:0003234", - "BFO:0000002", - "UPHENO:0051801", - "GO:0008152", - "UPHENO:0049904", - "UPHENO:0080555", - "UPHENO:0002642", - "HP:0020129", - "UBERON:0000064", - "UPHENO:0051900", - "UPHENO:0001005", - "HP:0011842", - "CHEBI:22984", - "CHEBI:33304", - "CHEBI:28868", - "HP:0012599", - "CHEBI:33655", - "GO:0042593", - "HP:0003149", - "UBERON:0000467", - "HP:0011277", - "UBERON:0000174", - "BFO:0000040", - "UPHENO:0049618", - "CHEBI:26020", - "UBERON:0006314", - "UPHENO:0051847", - "CHEBI:22563", - "UPHENO:0046348", - "HP:0012252", - "CHEBI:25696", - "UPHENO:0051686", - "UPHENO:0051960", - "UPHENO:0080556", - "CHEBI:26079", - "UBERON:0001015", - "CHEBI:23367", - "HP:0011804", - "UPHENO:0052008", - "HP:0003330", - "HP:0003110", - "UPHENO:0046284", - "CHEBI:24870", - "UPHENO:0051608", - "CHEBI:26216", - "CHEBI:33559", - "UPHENO:0034248", - "HP:0003111", - "CHEBI:36359", - "UPHENO:0079824", - "GO:0055080", - "UPHENO:0050539", - "CHEBI:33302", - "HP:0032180", - "UPHENO:0006889", - "UBERON:0001630", - "UPHENO:0087433", - "UPHENO:0002832", - "UPHENO:0051668", - "UBERON:0001008", - "UBERON:8450002", - "UPHENO:0002536", - "UBERON:0001434", - "UPHENO:0051763", - "UPHENO:0068091", - "CHEBI:37577", - "GO:0042592", - "CHEBI:51151", - "UPHENO:0068144", - "CHEBI:33675", - "CHEBI:33241", - "GO:0033500", - "UPHENO:0051678", - "UPHENO:0002320", - "HP:0000117", - "GO:0006725", - "UBERON:0004765", - "UBERON:0000475", - "UBERON:0001004", - "UBERON:0000062", - "UPHENO:0002803", - "CHEBI:26401", - "UPHENO:0078555", - "HP:0001510", - "UPHENO:0082834", - "CHEBI:35875", - "UBERON:0000489", - "UPHENO:0081550", - "GO:0005975", - "CHEBI:35568", - "CHEBI:16670", - "UPHENO:0075696", - "UBERON:0002204", - "UPHENO:0068079", - "UPHENO:0084541", - "GO:0008150", - "UBERON:0005173", - "HP:0002749", - "UBERON:0003103", - "CHEBI:22314", - "UPHENO:0082835", - "HP:0004349", - "UPHENO:0084653", - "BFO:0000001", - "UPHENO:0034391", - "CHEBI:22313", - "UBERON:0000465", - "UPHENO:0002332", - "UPHENO:0081547", - "HP:0003011", - "UPHENO:0050080", - "GO:0050801", - "GO:0032501", - "UPHENO:0068102", - "CHEBI:35352", - "HP:0000924", - "UBERON:0001062", - "UBERON:0001088", - "HP:0002659", - "CHEBI:27226", - "HP:0000001", - "UPHENO:0075902", - "UPHENO:0078640", - "HP:0011013", - "UBERON:0004122", - "HP:0012622", - "UBERON:0011216", - "UPHENO:0050342", - "HP:0004348", - "HP:0011849", - "HP:0000093", - "CHEBI:33692", - "UPHENO:0002442", - "CHEBI:33608", - "UBERON:0010000", - "HP:0002049", - "BFO:0000020", - "UBERON:0005181", - "CHEBI:33296", - "UPHENO:0076692", - "HP:0000118", - "UPHENO:0082875", - "UPHENO:0001001", - "UPHENO:0051937", - "HP:0012606", - "UPHENO:0084654", - "BFO:0000004", - "HP:6000531", - "UPHENO:0051640", - "CHEBI:35573", - "HP:0010932", - "UPHENO:0050113", - "BFO:0000015", - "UPHENO:0024906", - "CHEBI:33672", - "CHEBI:33256", - "CHEBI:33636", - "UPHENO:0076703" - ], - "has_phenotype_closure_label": [ - "abnormal independent continuant carboxylic acid level", - "abnormal urine amino acid level", - "Aminoaciduria", - "increased level of carboxylic acid in independent continuant", - "increased level of amino acid in urine", - "increased level of monosaccharide in independent continuant", - "Glycosuria", - "increased level of monosaccharide in urine", - "increased level of glucose in independent continuant", - "Abnormal urine protein level", - "increased level of protein polypeptide chain in independent continuant", - "primary amide", - "organic amino compound", - "macromolecule", - "abnormal independent continuant amino acid level", - "Proteinuria", - "amide", - "protein polypeptide chain", - "abnormal independent continuant protein polypeptide chain level", - "increased level of uric acid in independent continuant", - "increased level of uric acid in urine", - "Abnormality of urinary uric acid level", - "increased level of organic molecular entity in independent continuant", - "abnormal hydrogencarbonate level", - "Bicarbonaturia", - "Abnormal urinary organic compound level", - "abnormal urine hydrogencarbonate level", - "hydrogencarbonate", - "renal tubule", - "uriniferous tubule", - "nephron", - "Low-molecular-weight proteinuria", - "kidney epithelium", - "Bicarbonate-wasting renal tubular acidosis", - "excretory tube", - "Renal tubular dysfunction", - "tissue", - "abnormally decreased functionality of the nephron tubule", - "Hyperchloremic acidosis", - "increased bodily fluid acid level", - "increased bodily fluid role level", - "Hyperchloremic metabolic acidosis", - "decreased multicellular organism mass", - "Weight loss", - "abnormality of multicellular organism mass", - "Decreased anatomical entity mass", - "Decreased body weight", - "anatomical entity dysfunction in independent continuant", - "decreased anatomical entity mass", - "Pain", - "Increased susceptibility to fractures", - "abnormality of musculoskeletal system physiology", - "alkali metal molecular entity", - "abnormal independent continuant potassium(1+) level", - "potassium molecular entity", - "monoatomic cation homeostasis", - "Abnormal blood potassium concentration", - "abnormal urine glucose level", - "inorganic cation", - "monoatomic cation", - "decreased level of potassium atom in independent continuant", - "Abnormal blood cation concentration", - "abnormal blood potassium(1+) level", - "cation", - "inorganic ion", - "metal cation", - "monoatomic monocation", - "Abnormal blood monovalent inorganic cation concentration", - "abnormal monoatomic cation homeostasis", - "abnormal urine organic anion level", - "abnormal independent continuant potassium atom level", - "increased level of potassium atom in urine", - "Increased urinary potassium", - "Abnormal urine potassium concentration", - "potassium atom", - "abnormal carboxylic acid metabolic process", - "Abnormality of mitochondrial metabolism", - "abnormal acid bodily fluid level", - "abnormal carnitine metabolic process", - "abnormal independent continuant carnitine level", - "Abnormal circulating fatty-acid anion concentration", - "Elevated urinary carboxylic acid", - "abnormal fatty acid metabolic process", - "inorganic molecular entity", - "amino-acid betaine", - "cellular anatomical entity", - "abnormal acid independent continuant level", - "lipid metabolic process", - "abnormal cellular_component", - "abnormal amino acid derivative level", - "organelle", - "Abnormal circulating lipid concentration", - "excretory system", - "abnormal lipid metabolic process", - "Growth abnormality", - "amino-acid betaine metabolic process", - "Abnormality of the mitochondrion", - "abnormal potassium atom level", - "Abnormality of fluid regulation", - "mitochondrion", - "Abnormal circulating fatty-acid concentration", - "All", - "intracellular organelle", - "abnormal blood carnitine level", - "oxoacid", - "increased independent continuant acid level", - "organic oxo compound", - "cytoplasm", - "decreased level of carnitine in blood", - "nephron tubule", - "increased level of chemical entity in bodily fluid", - "carbon oxoacid", - "abnormal sodium atom level", - "organic acid metabolic process", - "oxoanion", - "increased level of hydrogencarbonate in urine", - "obsolete cellular nitrogen compound metabolic process", - "increased level of chemical entity in blood", - "hydrogen molecular entity", - "intracellular anatomical structure", - "increased level of amino acid in independent continuant", - "cellular process", - "imidazopyrimidine", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal independent continuant hydrogencarbonate level", - "Azotemia", - "organonitrogen compound metabolic process", - "s-block molecular entity", - "hydrides", - "Decreased circulating purine concentration", - "carboxylic acid", - "nucleobase", - "abnormal purine nucleobase metabolic process", - "cellular modified amino acid metabolic process", - "nucleobase metabolic process", - "purine-containing compound metabolic process", - "cyclic compound", - "abnormal urine sodium atom level", - "organic molecule", - "organic heterobicyclic compound", - "mancude organic heterocyclic parent", - "aromatic compound", - "organonitrogen heterocyclic compound", - "increased level of hydrogencarbonate in independent continuant", - "organic heteropolycyclic compound", - "increased level of potassium atom in independent continuant", - "heteroarene", - "phenotype by ontology source", - "excreta", - "cell", - "cellular metabolic process", - "monocarboxylic acid anion", - "heterobicyclic compound", - "abnormal blood nitrogen molecular entity level", - "polyatomic entity", - "ion", - "abnormal nitrogen compound metabolic process", - "abnormal anatomical entity mass density", - "decreased level of uric acid in independent continuant", - "abnormal small molecule metabolic process", - "zwitterion", - "organic mancude parent", - "molecule", - "mancude ring", - "fatty acid metabolic process", - "increased level of calcium atom in independent continuant", - "abnormal independent continuant calcium atom level", - "organonitrogen compound", - "Abnormal urine phosphate concentration", - "thoracic segment organ", - "carboxylic acid metabolic process", - "mancude organic heterobicyclic parent", - "abnormality of anatomical entity mass", - "bone element", - "abnormal cell", - "heterocyclic compound", - "organic cyclic compound", - "Decreased multicellular organism mass", - "organic hydride", - "Proximal renal tubular acidosis", - "abnormal independent continuant uric acid level", - "purine", - "organic heterocyclic compound", - "organic aromatic compound", - "dipolar compound", - "elemental potassium", - "anatomical conduit", - "Hypophosphatemia", - "polycyclic compound", - "onium betaine", - "heteropolycyclic compound", - "Abnormality of urine bicarbonate level", - "Abnormal blood ion concentration", - "abnormal blood phosphate level", - "Abnormality of body weight", - "abnormal independent continuant monoatomic ion level", - "decreased level of phosphate in blood", - "monocarboxylic acid", - "decreased level of chemical entity", - "abnormal independent continuant organic anion level", - "decreased role blood level", - "phosphate ion homeostasis", - "increased independent continuant role level", - "decreased level of chemical entity in blood", - "monoatomic ion", - "Rickets", - "endoderm-derived structure", - "cellular lipid metabolic process", - "decreased level of chemical entity in independent continuant", - "abnormal urine potassium atom level", - "haemolymphatic fluid", - "hematopoietic system", - "blood", - "abnormal skeletal system morphology", - "abnormal independent continuant carbohydrate level", - "Abnormal cellular physiology", - "abnormal biological_process", - "lower respiratory tract", - "glucose", - "aldohexose", - "bodily fluid", - "abnormal primary metabolic process", - "abnormal independent continuant glucose level", - "amino acid derivative", - "decreased level of uric acid in blood", - "decreased role independent continuant level", - "organic substance metabolic process", - "abnormal blood chemical entity level", - "abnormal nucleobase metabolic process", - "hemolymphoid system", - "fatty acid", - "Abnormal urine sodium concentration", - "Abnormal urine carboxylic acid level", - "abnormal blood glucose level", - "biological_process", - "protein-containing material entity", - "purine nucleobase metabolic process", - "Abnormality of the musculoskeletal system", - "Hypophosphatemic rickets", - "anatomical system", - "Abnormal glucose homeostasis", - "organ", - "heteroorganic entity", - "Abnormal circulating nitrogen compound concentration", - "Abnormal blood phosphate concentration", - "monosaccharide", - "increased level of nitrogen molecular entity in blood", - "Abnormal circulating metabolite concentration", - "hydroxides", - "chemical homeostasis", - "increased level of protein polypeptide chain in urine", - "decreased muscle organ strength", - "abnormal role bodily fluid level", - "Abnormal blood glucose concentration", - "nephron epithelium", - "Abnormal circulating organic compound concentration", - "mesoderm-derived structure", - "increased level of purines in independent continuant", - "abnormality of respiratory system physiology", - "Abnormal circulating nucleobase concentration", - "Generalized aminoaciduria", - "abnormal urine calcium atom level", - "abnormal carbohydrate metabolic process", - "p-block molecular entity", - "obsolete heterocycle metabolic process", - "Muscle weakness", - "organic molecular entity", - "intracellular membrane-bounded organelle", - "abnormal blood potassium atom level", - "Renal sodium wasting", - "abdominal segment element", - "abnormal glucose homeostasis", - "abnormal chemical homeostasis", - "proximo-distal subdivision of respiratory tract", - "lung fibrosis", - "Abnormal lung morphology", - "subdivision of tube", - "elemental molecular entity", - "respiratory tract", - "oxide", - "abnormal monocarboxylic acid metabolic process", - "obsolete nitrogen compound metabolic process", - "urine", - "Abnormal renal physiology", - "abnormal growth", - "respiratory system", - "Abnormality of acid-base homeostasis", - "oxygen molecular entity", - "anatomical collection", - "independent continuant", - "abnormal independent continuant chemical entity level", - "Abnormal respiratory system morphology", - "atom", - "lung", - "amino acid", - "anion", - "abnormal skeletal system", - "regulation of body fluid levels", - "Abnormality of the respiratory system", - "sodium atom", - "abnormal cellular process", - "abnormal lung morphology", - "abnormal phenotype by ontology source", - "Abnormality of the kidney", - "thoracic cavity element", - "increased level of organic acid in independent continuant", - "abnormally decreased functionality of the anatomical entity", - "skeletal system", - "upper urinary tract", - "Pulmonary fibrosis", - "abnormal amino-acid betaine level", - "epithelium", - "hexose", - "Decreased anatomical entity mass density", - "Abnormal respiratory system physiology", - "nitrogen molecular entity", - "organochalcogen compound", - "abnormal anatomical entity morphology in the independent continuant", - "polypeptide", - "abnormal respiratory system", - "small molecule metabolic process", - "renal system", - "Dehydration", - "organ system subdivision", - "process", - "carboxamide", - "biological regulation", - "abnormal carbohydrate homeostasis", - "lateral structure", - "abnormal regulation of body fluid levels", - "abnormal cellular metabolic process", - "carbohydrate", - "homeostatic process", - "fatty acid anion", - "abnormal role urine level", - "increased level of organic acid in urine", - "Renal insufficiency", - "Abnormal urinary electrolyte concentration", - "increased level of chemical entity in urine", - "tube", - "aldose", - "carbohydrate homeostasis", - "increased level of chemical entity", - "kidney", - "Abnormality of urine calcium concentration", - "monoatomic entity", - "Organic aciduria", - "decreased level of potassium atom in blood", - "Chronic kidney disease", - "Stage 5 chronic kidney disease", - "polyatomic ion", - "purines", - "calcium atom", - "Hypokalemia", - "specifically dependent continuant", - "abnormal role independent continuant level", - "anatomical structure", - "Abnormality of the urinary system", - "Abnormality of blood and blood-forming tissues", - "peptide", - "Renal tubular acidosis", - "thoracic segment of trunk", - "Hypercalciuria", - "Decreased bone element mass density", - "abnormality of renal system physiology", - "organism subdivision", - "body proper", - "glucose homeostasis", - "decreased anatomical entity strength", - "Abnormal muscle physiology", - "abnormality of kidney physiology", - "s-block element atom", - "chalcogen molecular entity", - "cavitated compound organ", - "abnormal kidney", - "growth", - "Abnormality of the upper urinary tract", - "main body axis", - "alkali metal cation", - "abnormal role blood level", - "organic anion", - "Abnormal musculoskeletal physiology", - "abnormal independent continuant nitrogen molecular entity level", - "pair of lungs", - "Abnormal circulating carboxylic acid concentration", - "decreased level of carnitine in independent continuant", - "organic fundamental parent", - "alkali metal atom", - "abnormal homeostatic process", - "alkaline earth metal atom", - "Abnormal homeostasis", - "abnormal musculature", - "subdivision of trunk", - "abdomen element", - "Abnormal bone ossification", - "monocarboxylic acid metabolic process", - "carbohydrate metabolic process", - "Hypoglycemia", - "compound organ", - "Hypouricemia", - "primary metabolic process", - "ossification", - "Abnormal urine pH", - "abnormal anatomical entity morphology", - "lipid", - "decreased level of phosphate in independent continuant", - "carbohydrates and carbohydrate derivatives", - "muscle organ", - "increased level of calcium atom in urine", - "Abnormality of urine homeostasis", - "increased level of carboxylic acid in urine", - "multicellular organismal process", - "skeletal element", - "pnictogen molecular entity", - "Constitutional symptom", - "abnormal multicellular organism chemical entity level", - "carbon group molecular entity", - "Abnormality of metabolism/homeostasis", - "decreased level of purines", - "genitourinary system", - "abnormal independent continuant phosphate level", - "increased level of chemical entity in independent continuant", - "abnormal phosphate level", - "delayed growth", - "chemical entity", - "obsolete cellular aromatic compound metabolic process", - "abnormal urine uric acid level", - "bicyclic compound", - "phosphorus molecular entity", - "Abnormality of the skeletal system", - "abdominal segment of trunk", - "carbon oxoanion", - "abnormal bone element mass density", - "heterocyclic organic fundamental parent", - "Abnormality of bone mineral density", - "oxoacid derivative", - "main group molecular entity", - "abnormal genitourinary system", - "Abnormal circulating carnitine concentration", - "Abnormal bone structure", - "phosphate", - "Acidosis", - "delayed biological_process", - "Abnormal circulating carbohydrate concentration", - "phosphorus oxoacids and derivatives", - "organ part", - "Abnormality of the urinary system physiology", - "organic acid", - "Hyperuricosuria", - "viscus", - "heteroatomic molecular entity", - "occurrent", - "phosphorus oxoacid derivative", - "phosphoric acid derivative", - "musculature", - "oxopurine", - "Decreased plasma carnitine", - "abnormal chemical entity level", - "abnormal metabolic process", - "Reduced bone mineral density", - "carnitine", - "oxoacid metabolic process", - "abnormal hematopoietic system", - "abnormal urine phosphate level", - "abnormal blood monoatomic ion level", - "abnormal metabolite independent continuant level", - "respiration organ", - "abnormal calcium atom level", - "abnormality of muscle organ physiology", - "non-functional anatomical entity", - "abnormal respiratory system morphology", - "subdivision of organism along main body axis", - "carnitine metabolic process", - "Abnormal cellular phenotype", - "Abnormality of the musculature", - "Abnormal circulating purine concentration", - "abnormal mitochondrion", - "regulation of biological quality", - "abnormal phosphate ion homeostasis", - "abdomen", - "cellular_component", - "abnormal monoatomic ion homeostasis", - "Abnormal urine metabolite level", - "muscle structure", - "abnormal amino acid level", - "nucleobase-containing compound metabolic process", - "organic ion", - "organic cyclic compound metabolic process", - "entity", - "anatomical entity fibrosis", - "Aciduria", - "Osteomalacia", - "abnormal blood uric acid level", - "Growth delay", - "musculature of body", - "obsolete cell", - "Abnormal circulating monocarboxylic acid concentration", - "increased level of glucose in urine", - "organooxygen compound", - "quaternary nitrogen compound", - "Bone pain", - "main group element atom", - "uric acid", - "Phenotypic abnormality", - "potassium(1+)", - "metabolic process", - "abnormal urine chemical entity level", - "epithelial tube", - "respiratory airway", - "increased independent continuant base level", - "monoatomic ion homeostasis", - "organism substance", - "phenotype", - "abnormal renal system", - "carbonyl compound", - "nucleobase-containing small molecule metabolic process", - "multicellular anatomical structure", - "ammonium betaine", - "trunk", - "Abnormality of the genitourinary system", - "quality", - "continuant", - "Metabolic acidosis", - "Renal phosphate wasting", - "abnormal upper urinary tract", - "carboxylic acid anion", - "inorganic ion homeostasis", - "material entity", - "material anatomical entity", - "metal atom", - "multicellular organism", - "abnormality of anatomical entity physiology", - "anatomical entity", - "Abnormal skeletal morphology", - "decreased level of amino-acid betaine", - "Abnormal pulmonary interstitial morphology", - "monovalent inorganic cation", - "musculoskeletal system", - "non-functional kidney", - "abnormal anatomical entity", - "molecular entity", - "polyatomic anion", - "abnormal independent continuant sodium atom level", - "membrane-bounded organelle", - "trunk region element" - ], - "has_phenotype_count": 29, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0060779", - "category": "biolink:Disease", - "name": "acquired Fanconi syndrome", - "full_name": null, - "deprecated": null, - "description": "Fanconi Syndrome caused by exposure to noxious agents.", - "xref": ["NCIT:C78296", "SCTID:236467001", "UMLS:C0341702"], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": ["acquired Fanconi syndrome"], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0060778", - "category": "biolink:Disease", - "name": "adult Fanconi syndrome", - "full_name": null, - "deprecated": null, - "description": "Probably related to a recessive gene, this is Fanconi Syndrome, characterized by adult onset.", - "xref": ["NCIT:C4377"], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": ["HP:0003581"], - "has_phenotype_label": ["Adult onset"], - "has_phenotype_closure": [ - "HP:0012823", - "HP:0003674", - "HP:0000001", - "HP:0003581", - "HP:0031797" - ], - "has_phenotype_closure_label": [ - "All", - "Clinical course", - "Adult onset", - "Onset", - "Clinical modifier" - ], - "has_phenotype_count": 1, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0009217", - "category": "biolink:Disease", - "name": "Fanconi-like syndrome", - "full_name": null, - "deprecated": null, - "description": "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.", - "xref": [ - "DOID:0090066", - "MESH:C536855", - "OMIM:227850", - "SCTID:236469003", - "UMLS:C0151638" - ], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": ["Fanconi-like syndrome"], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0005939", - "HP:0002754", - "HP:0001876", - "HP:0002783", - "HP:0007606" - ], - "has_phenotype_label": [ - "Multiple bilateral pneumothoraces", - "Osteomyelitis", - "Pancytopenia", - "Recurrent lower respiratory tract infections", - "Multiple cutaneous malignancies" - ], - "has_phenotype_closure": [ - "UBERON:0004121", - "HP:0007606", - "HP:0008069", - "UBERON:0002097", - "UBERON:0002199", - "UBERON:0002416", - "UPHENO:0003811", - "HP:0011793", - "HP:0000951", - "HP:0011947", - "OBI:0100026", - "HP:0032101", - "UPHENO:0087339", - "CL:0002242", - "CL:0000219", - "UPHENO:0085302", - "HP:0001881", - "CL:0000329", - "UPHENO:0087123", - "UBERON:0002193", - "HP:0011842", - "UPHENO:0086173", - "HP:0001872", - "UPHENO:0085195", - "BFO:0000001", - "UPHENO:0086045", - "UPHENO:0011498", - "UBERON:0002390", - "HP:0025354", - "UPHENO:0006910", - "UPHENO:0086049", - "HP:0011875", - "UPHENO:0074685", - "UPHENO:0076703", - "UPHENO:0084987", - "UPHENO:0086172", - "UPHENO:0074624", - "UPHENO:0085371", - "HP:0011873", - "UPHENO:0085984", - "UBERON:0000025", - "HP:0001871", - "UPHENO:0088166", - "UPHENO:0085344", - "UPHENO:0076675", - "HP:0033127", - "CL:0002092", - "UPHENO:0049587", - "UPHENO:0086005", - "CL:0000764", - "HP:0005561", - "CL:0000763", - "UPHENO:0075696", - "CL:0000151", - "CL:0000457", - "UPHENO:0080662", - "UPHENO:0087355", - "HP:0002795", - "HP:0010978", - "CL:0000255", - "UPHENO:0080693", - "UPHENO:0002964", - "UBERON:0013701", - "HP:0010987", - "UBERON:0002204", - "UBERON:0013702", - "HP:0012145", - "UBERON:0002405", - "GO:0006952", - "GO:0008150", - "UPHENO:0076684", - "UPHENO:0074687", - "UPHENO:0001005", - "UPHENO:0049588", - "UPHENO:0059829", - "HP:0000924", - "UPHENO:0049586", - "UPHENO:0080377", - "UPHENO:0001003", - "HP:0002107", - "GO:0050896", - "UPHENO:0081440", - "UPHENO:0084928", - "UBERON:0009778", - "UBERON:0015203", - "GO:0006950", - "UPHENO:0002263", - "UBERON:0000072", - "HP:0002205", - "CL:0000233", - "UBERON:0001558", - "UBERON:0015212", - "GO:0006954", - "UBERON:0034923", - "HP:0002715", - "UPHENO:0082723", - "UBERON:0011216", - "NCBITaxon:33208", - "UPHENO:0085070", - "UBERON:0001474", - "NCBITaxon:1", - "NCBITaxon:131567", - "HP:0002783", - "UBERON:0000465", - "UBERON:0001004", - "UBERON:0000475", - "UPHENO:0001001", - "UBERON:0011676", - "UBERON:0000468", - "NCBITaxon:2759", - "HP:0032251", - "UPHENO:0077426", - "UBERON:0009569", - "PATO:0000001", - "CL:0000988", - "UPHENO:0015280", - "HP:0011893", - "UPHENO:0002332", - "UBERON:0000170", - "UBERON:0005906", - "UPHENO:0004536", - "UBERON:0004120", - "UBERON:0000479", - "UBERON:0000077", - "UPHENO:0002448", - "PR:000050567", - "UBERON:0004765", - "HP:0002103", - "HP:0002086", - "HP:0002719", - "UBERON:0000042", - "HP:0020047", - "UBERON:0001005", - "BFO:0000003", - "UPHENO:0054970", - "UBERON:0000062", - "UBERON:0005177", - "UPHENO:0085118", - "CL:0000458", - "HP:0002664", - "UPHENO:0086908", - "UPHENO:0020748", - "UPHENO:0081590", - "CL:0000232", - "UPHENO:0083263", - "UPHENO:0049584", - "HP:0011843", - "UBERON:0004111", - "UBERON:0005181", - "UPHENO:0076692", - "BFO:0000020", - "UPHENO:0085189", - "UPHENO:0001002", - "UBERON:0000977", - "UPHENO:0002948", - "BFO:0000015", - "CL:0001035", - "HP:0005939", - "CL:0000225", - "UPHENO:0002635", - "CL:0000000", - "HP:0001873", - "UBERON:0002048", - "UBERON:0001062", - "UBERON:0002371", - "UBERON:0000060", - "UBERON:0013522", - "UPHENO:0002536", - "UBERON:0001434", - "HP:0025461", - "UBERON:0005178", - "CL:0000081", - "UBERON:0004119", - "HP:0000001", - "UPHENO:0082682", - "NCBITaxon:33154", - "UPHENO:0082875", - "CL:0000738", - "UBERON:0000061", - "HP:0001876", - "UPHENO:0019970", - "UPHENO:0063722", - "HP:0000118", - "UBERON:0000171", - "BFO:0000004", - "HP:0002754", - "UBERON:0002100", - "UBERON:0000064", - "UPHENO:0085144", - "BFO:0000002", - "UBERON:0000467", - "UPHENO:0080221", - "UBERON:0002075", - "HP:0002088", - "HP:0012252", - "UBERON:0010000", - "UBERON:0000481", - "UBERON:0034925", - "UPHENO:0004459", - "NCBITaxon:6072", - "UPHENO:0087433", - "UBERON:0003103", - "UBERON:0000065", - "HP:0012647", - "HP:0001574", - "UBERON:0000915", - "UPHENO:0020584", - "UPHENO:0074572", - "HP:0012649", - "UPHENO:0085068", - "BFO:0000040" - ], - "has_phenotype_closure_label": [ - "integumental system", - "Neoplasm by anatomical site", - "Neoplasm", - "Abnormality of the skin", - "abnormal integument", - "abnormal respiratory system", - "ectoderm-derived structure", - "Eumetazoa", - "All", - "Multiple cutaneous malignancies", - "Neoplasm of the skin", - "abnormal skin of body", - "abnormal inflammatory response", - "Unusual infection", - "skeletal element", - "Abnormal cellular immune system morphology", - "abnormal platelet morphology", - "Abnormal platelet morphology", - "erythrocyte", - "myeloid cell", - "biogenic amine secreting cell", - "increased qualitatively biological_process", - "abnormal number of anatomical enitites of type cell", - "Abnormality of immune system physiology", - "abnormal response to stress", - "bone cell", - "bone marrow cell", - "abnormally decreased number of myeloid cell", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Abnormal cellular phenotype", - "nucleate cell", - "motile cell", - "oxygen accumulating cell", - "abnormal hematopoietic cell morphology", - "anucleate cell", - "secretory cell", - "eukaryotic cell", - "Recurrent infections", - "abnormal bone marrow cell morphology", - "Abnormality of multiple cell lineages in the bone marrow", - "mixed endoderm/mesoderm-derived structure", - "Abnormality of bone marrow cell morphology", - "erythroid lineage cell", - "integument", - "abnormal number of anatomical enitites of type anatomical entity", - "biological_process", - "Abnormal myeloid cell morphology", - "abnormal immune system morphology", - "Abnormal lung morphology", - "Thrombocytopenia", - "Osteomyelitis", - "tissue", - "Abnormality of thrombocytes", - "hemolymphoid system", - "abnormal cell", - "abnormal hematopoietic system morphology", - "abnormal number of anatomical enitites of type platelet", - "anatomical structure", - "Abnormality of blood and blood-forming tissues", - "Abnormal leukocyte morphology", - "immune system", - "abnormal anatomical entity morphology", - "abnormal biological_process", - "increased inflammatory response in bone element", - "hematopoietic cell", - "skin of body", - "respiration organ", - "non-connected functional system", - "Respiratory tract infection", - "Abnormal musculoskeletal physiology", - "Abnormal immune system morphology", - "abnormal immune system", - "musculoskeletal system", - "abnormally decreased number of cell", - "increased biological_process in independent continuant", - "Abnormality of the musculoskeletal system", - "Abnormal skeletal morphology", - "Abnormal inflammatory response", - "Abnormal cell morphology", - "increased biological_process", - "abnormally decreased number of hematopoietic cell", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "phenotype by ontology source", - "abnormal response to stimulus", - "bone element", - "body proper", - "changed biological_process rate", - "Recurrent respiratory infections", - "abnormal phenotype by ontology source", - "thoracic cavity element", - "abnormality of musculoskeletal system physiology", - "cell", - "abnormal biological_process in independent continuant", - "Pneumothorax", - "organ system subdivision", - "increased qualitatively inflammatory response", - "proximo-distal subdivision of respiratory tract", - "Abnormal platelet count", - "anatomical entity", - "serotonin secreting cell", - "Abnormal pleura morphology", - "Abnormal leukocyte count", - "phenotype", - "hematopoietic system", - "blood cell", - "Opisthokonta", - "increased inflammatory response", - "subdivision of tube", - "continuant", - "inflammatory response", - "abnormality of immune system physiology", - "increased biological_process in bone element", - "material entity", - "abnormal blood cell morphology", - "organ", - "abnormal platelet", - "lower respiratory tract", - "organism subdivision", - "serous membrane", - "pleura", - "respiratory tract", - "anatomical conduit", - "increased qualitatively response to stimulus", - "pleural sac", - "endoderm-derived structure", - "organism", - "subdivision of organism along main body axis", - "abnormal bone marrow morphology", - "respiratory airway", - "viscus", - "abnormal blood cell", - "thoracic segment organ", - "response to stimulus", - "thoracic segment of trunk", - "leukocyte", - "organ part", - "response to stress", - "defense response", - "abnormal leukocyte morphology", - "abnormal pleura morphology", - "respiratory system", - "changed biological_process rate in independent continuant", - "Increased inflammatory response", - "abnormality of anatomical entity physiology", - "root", - "cellular organisms", - "multi-tissue structure", - "process", - "quality", - "anatomical system", - "platelet", - "Abnormality of the skeletal system", - "specifically dependent continuant", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal respiratory system morphology", - "subdivision of trunk", - "Metazoa", - "Abnormal respiratory system morphology", - "independent continuant", - "increased qualitatively biological_process in independent continuant", - "disconnected anatomical group", - "abnormal skeletal system", - "abnormal bone marrow cell", - "abnormal anatomical entity", - "Abnormality of the immune system", - "occurrent", - "abnormal skeletal system morphology", - "abnormality of respiratory system physiology", - "anatomical collection", - "trunk", - "multicellular anatomical structure", - "main body axis", - "Multiple bilateral pneumothoraces", - "abnormal myeloid cell morphology", - "lung", - "Pancytopenia", - "material anatomical entity", - "entity", - "increased qualitatively inflammatory response in independent continuant", - "abnormal cell morphology", - "trunk region element", - "mesoderm-derived structure", - "serous sac", - "Abnormality of the integument", - "compound organ", - "Abnormal respiratory system physiology", - "bone marrow", - "Eukaryota", - "abnormal number of anatomical enitites of type leukocyte", - "protein-containing material entity", - "Abnormality of the respiratory system", - "tube", - "abnormal hematopoietic system", - "abnormal lung morphology", - "skeletal system", - "abnormal anatomical entity morphology in the independent continuant", - "anatomical wall", - "lateral structure", - "increased inflammatory response in independent continuant", - "Recurrent lower respiratory tract infections", - "Phenotypic abnormality", - "abnormally decreased number of anatomical entity", - "abnormally decreased number of platelet", - "pair of lungs", - "multicellular organism" - ], - "has_phenotype_count": 5, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0001083", - "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome", - "full_name": null, - "deprecated": null, - "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.", - "xref": [ - "DOID:1062", - "GARD:9120", - "MESH:D005198", - "NANDO:2100027", - "NANDO:2200187", - "NCIT:C3034", - "SCTID:40488004", - "UMLS:C0015624" - ], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": [ - "De toni-Fanconi syndrome", - "De toni-debre-Fanconi syndrome", - "Fanconi syndrome", - "Fanconi's syndrome", - "Fanconi-de toni syndrome", - "Fanconi-de-toni syndrome", - "Lignac-Fanconi syndrome", - "adult Fanconi syndrome", - "congenital Fanconi syndrome", - "deToni Fanconi syndrome", - "infantile nephropathic cystinosis", - "toni-debre-Fanconi syndrome" - ], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0013247", - "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 2", - "full_name": null, - "deprecated": null, - "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.", - "xref": ["DOID:0080758", "GARD:15655", "OMIM:613388", "UMLS:C3150652"], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": [ - "FRTS2", - "Fanconi renotubular syndrome 2", - "Fanconi renotubular syndrome type 2", - "Fanconi syndrome caused by mutation in SLC34A1", - "SLC34A1 Fanconi syndrome" - ], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0002749", - "HP:0000117", - "HP:0002148", - "HP:0000114", - "HP:0002757", - "HP:0002748", - "HP:0000938", - "HP:0002909", - "HP:0031415", - "HP:0000093", - "HP:0003076", - "HP:0003165", - "HP:0004322", - "HP:0002653", - "HP:0012213", - "HP:0002150", - "HP:0000083" - ], - "has_phenotype_label": [ - "Osteomalacia", - "Renal phosphate wasting", - "Hypophosphatemia", - "Proximal tubulopathy", - "Recurrent fractures", - "Rickets", - "Osteopenia", - "Generalized aminoaciduria", - "High serum calcitriol", - "Proteinuria", - "Glycosuria", - "Elevated circulating parathyroid hormone level", - "Short stature", - "Bone pain", - "Decreased glomerular filtration rate", - "Hypercalciuria", - "Renal insufficiency" - ], - "has_phenotype_closure": [ - "UPHENO:0086128", - "UPHENO:0082536", - "CHEBI:33521", - "UPHENO:0068102", - "UBERON:0001474", - "CHEBI:16646", - "HP:0000077", - "CHEBI:33250", - "HP:0011842", - "CHEBI:22984", - "CHEBI:33304", - "HP:0000002", - "UPHENO:0015280", - "UPHENO:0075195", - "HP:0002909", - "UPHENO:0068134", - "UPHENO:0080351", - "UPHENO:0020584", - "HP:0004322", - "HP:0001510", - "UPHENO:0082538", - "UPHENO:0081423", - "UPHENO:0002332", - "PR:000064867", - "CHEBI:33675", - "UPHENO:0068144", - "CHEBI:33241", - "HP:0012213", - "UPHENO:0051936", - "UPHENO:0069254", - "UBERON:0002193", - "HP:0430071", - "CHEBI:36080", - "UBERON:0001969", - "HP:0002152", - "HP:0000001", - "UPHENO:0051741", - "UBERON:0000468", - "HP:0002157", - "HP:0012337", - "UPHENO:0077826", - "UPHENO:0082534", - "UPHENO:0051648", - "UBERON:0001977", - "UPHENO:0068533", - "HP:0001948", - "HP:0003076", - "UPHENO:0068068", - "CHEBI:24431", - "PR:000013429", - "UPHENO:0046344", - "UPHENO:0051680", - "HP:0033405", - "GO:0040007", - "HP:0004360", - "CHEBI:18133", - "CHEBI:15693", - "UPHENO:0086132", - "UPHENO:0046362", - "UPHENO:0052116", - "CHEBI:33917", - "UPHENO:0051612", - "UPHENO:0051635", - "CHEBI:35381", - "HP:0011280", - "UPHENO:0080659", - "CHEBI:26082", - "UPHENO:0068442", - "HP:6000531", - "UPHENO:0051640", - "UPHENO:0068058", - "UBERON:0004120", - "UPHENO:0068054", - "GO:0008152", - "UPHENO:0051801", - "UPHENO:0068472", - "CHEBI:33839", - "CHEBI:64709", - "GO:0006629", - "HP:0025142", - "CHEBI:33256", - "CHEBI:37622", - "CHEBI:33709", - "UPHENO:0068565", - "UPHENO:0075696", - "CHEBI:16670", - "UPHENO:0002442", - "HP:0000093", - "HP:0004364", - "UPHENO:0049628", - "CHEBI:15841", - "UPHENO:0081440", - "HP:0000083", - "CHEBI:18059", - "UPHENO:0049873", - "HP:0012212", - "UBERON:0000064", - "HP:0020129", - "UPHENO:0081548", - "CHEBI:35352", - "UPHENO:0051864", - "HP:0003119", - "CHEBI:27136", - "UBERON:0015203", - "UPHENO:0051678", - "CHEBI:35341", - "UBERON:0000178", - "CHEBI:17234", - "UPHENO:0076286", - "UPHENO:0068064", - "HP:0031415", - "UPHENO:0082539", - "GO:0055062", - "CHEBI:27300", - "UPHENO:0084654", - "CHEBI:47042", - "CHEBI:17823", - "HP:0100530", - "GO:0006775", - "UPHENO:0081547", - "GO:0071704", - "CHEBI:35788", - "HP:0003077", - "UPHENO:0051712", - "UPHENO:0000541", - "HP:0003165", - "HP:0032369", - "HP:0032245", - "UPHENO:0068384", - "UPHENO:0080643", - "UPHENO:0049723", - "GO:0042359", - "GO:0044281", - "GO:0044238", - "CHEBI:16541", - "GO:0048878", - "CHEBI:33595", - "UPHENO:0076287", - "HP:0100529", - "CHEBI:33822", - "UPHENO:0076293", - "UPHENO:0078628", - "UPHENO:0003116", - "HP:0100511", - "UBERON:0000025", - "CHEBI:33832", - "CHEBI:33285", - "CHEBI:25367", - "HP:0100508", - "UPHENO:0081424", - "HP:0040156", - "CHEBI:35350", - "CHEBI:35605", - "CHEBI:36586", - "CHEBI:33674", - "UPHENO:0068089", - "UPHENO:0079536", - "HP:0002150", - "UBERON:0000061", - "UPHENO:0076289", - "UPHENO:0046281", - "CHEBI:33575", - "CHEBI:78616", - "CHEBI:50860", - "UPHENO:0068040", - "GO:1901360", - "CHEBI:73558", - "UPHENO:0081546", - "CHEBI:37577", - "UPHENO:0068091", - "UPHENO:0068491", - "UPHENO:0078554", - "CHEBI:32988", - "CHEBI:36962", - "UPHENO:0048707", - "CHEBI:25806", - "CHEBI:22313", - "UBERON:0003103", - "UPHENO:0068971", - "UPHENO:0000543", - "UPHENO:0050116", - "UPHENO:0034391", - "CHEBI:51143", - "HP:0000119", - "CHEBI:36360", - "CHEBI:33582", - "UPHENO:0082542", - "HP:0033127", - "HP:0032943", - "UPHENO:0068049", - "UPHENO:0001002", - "CHEBI:24833", - "CHEBI:36357", - "CHEBI:36587", - "UBERON:0010000", - "CHEBI:33608", - "HP:0002748", - "UPHENO:0051630", - "UPHENO:0068495", - "UBERON:0001434", - "HP:0002757", - "UBERON:0015212", - "UBERON:0009569", - "UBERON:0011676", - "UBERON:0002113", - "UPHENO:0068477", - "UBERON:0013701", - "UBERON:0011143", - "UBERON:0000483", - "HP:0001507", - "HP:0001871", - "UPHENO:0081550", - "HP:0033331", - "HP:0003117", - "UBERON:0000463", - "UPHENO:0001003", - "CHEBI:33579", - "UBERON:0005177", - "UPHENO:0002411", - "CHEBI:24867", - "HP:0012211", - "UBERON:0000479", - "HP:0010935", - "HP:0012599", - "HP:0000114", - "HP:0002749", - "UBERON:0005173", - "UBERON:0002417", - "HP:0012591", - "UBERON:0002100", - "UBERON:0000916", - "CHEBI:33318", - "UPHENO:0051847", - "UBERON:0006314", - "UPHENO:0066943", - "UBERON:0015204", - "UPHENO:0024906", - "UPHENO:0068313", - "UBERON:0004819", - "CHEBI:33559", - "CHEBI:24870", - "CHEBI:33259", - "PR:000050567", - "UPHENO:0034217", - "UPHENO:0068110", - "HP:0031980", - "CHEBI:23367", - "CHEBI:33238", - "UPHENO:0068251", - "UPHENO:0048763", - "UBERON:0005172", - "UPHENO:0051930", - "HP:0003355", - "UPHENO:0004459", - "UPHENO:0050080", - "UPHENO:0049587", - "HP:0002148", - "CHEBI:36853", - "CHEBI:26079", - "UPHENO:0051686", - "UPHENO:0051960", - "CHEBI:36963", - "UPHENO:0051804", - "UPHENO:0012541", - "PATO:0000001", - "UPHENO:0049874", - "HP:0000117", - "UPHENO:0052038", - "HP:0000938", - "UPHENO:0080638", - "UPHENO:0078589", - "UBERON:0004111", - "UPHENO:0034253", - "UPHENO:0051628", - "CHEBI:51958", - "UPHENO:0077821", - "UPHENO:0002964", - "CHEBI:72695", - "UPHENO:0001005", - "UPHENO:0082541", - "UPHENO:0068169", - "HP:0012531", - "UPHENO:0034351", - "GO:0001503", - "BFO:0000002", - "HP:0002659", - "UPHENO:0048711", - "UPHENO:0002642", - "UPHENO:0051900", - "HP:0001939", - "UBERON:0000467", - "UPHENO:0068047", - "HP:0011277", - "UBERON:0000174", - "UBERON:0001285", - "BFO:0000040", - "UPHENO:0049618", - "CHEBI:26020", - "UPHENO:0082540", - "UPHENO:0046348", - "HP:0033354", - "UPHENO:0081544", - "UPHENO:0051739", - "HP:0011843", - "UPHENO:0049904", - "UPHENO:0046286", - "HP:0032180", - "UBERON:0003914", - "PR:000000001", - "UBERON:0034923", - "UBERON:0002390", - "UBERON:0000179", - "HP:0003330", - "HP:0003110", - "UPHENO:0046284", - "GO:0042592", - "UPHENO:0051709", - "HP:0000079", - "HP:0012072", - "HP:0003111", - "CHEBI:36359", - "HP:0002653", - "UPHENO:0068538", - "UBERON:0013702", - "CHEBI:33302", - "UPHENO:0002832", - "UPHENO:0051668", - "HP:0000124", - "UBERON:0001008", - "UBERON:0000062", - "UPHENO:0079534", - "BFO:0000003", - "UPHENO:0080352", - "UPHENO:0051186", - "UPHENO:0002803", - "UPHENO:0082834", - "GO:0008202", - "UBERON:0000489", - "GO:0006766", - "GO:0098771", - "HP:0010876", - "PR:000018263", - "UBERON:0004765", - "CHEBI:33695", - "UBERON:0002204", - "UBERON:0007684", - "GO:0008150", - "UPHENO:0082835", - "HP:0004349", - "UPHENO:0084653", - "BFO:0000001", - "UPHENO:0082943", - "UBERON:0000465", - "CHEBI:24651", - "UPHENO:0066927", - "CHEBI:26191", - "CHEBI:33635", - "UPHENO:0068247", - "GO:0050801", - "GO:0032501", - "HP:0000924", - "UBERON:0001062", - "UPHENO:0068174", - "UBERON:0001088", - "UPHENO:0075902", - "UPHENO:0066739", - "UBERON:0004122", - "UBERON:0011216", - "HP:0004348", - "UPHENO:0068104", - "HP:0011849", - "GO:1901615", - "UBERON:0009773", - "BFO:0000020", - "UBERON:0000949", - "UPHENO:0051670", - "UPHENO:0075159", - "UPHENO:0076692", - "HP:0000118", - "UPHENO:0046291", - "UBERON:8450002", - "UPHENO:0002536", - "UPHENO:0051763", - "UBERON:0006555", - "CHEBI:33694", - "HP:0001992", - "UBERON:0001231", - "UPHENO:0001001", - "UPHENO:0051937", - "UPHENO:0082875", - "BFO:0000004", - "UPHENO:0080658", - "UBERON:0000475", - "CHEBI:50047", - "UBERON:0004211", - "BFO:0000015", - "UPHENO:0076285", - "UPHENO:0076703", - "HP:0000818" - ], - "has_phenotype_closure_label": [ - "non-functional anatomical entity", - "abnormal independent continuant calcium atom level", - "abnormal urine calcium atom level", - "s-block element atom", - "main group element atom", - "increased level of calcium atom in independent continuant", - "Hypercalciuria", - "Bone pain", - "decreased size of the multicellular organism", - "abnormal size of anatomical entity", - "Growth delay", - "Abnormality of body height", - "abnormal calcium atom level", - "decreased height of the multicellular organism", - "delayed biological_process", - "abnormal acid bodily fluid level", - "abnormal blood protein polypeptide chain level", - "Azotemia", - "Abnormality of acid-base homeostasis", - "increased level of protein in blood", - "Alkalosis", - "Elevated circulating parathyroid hormone level", - "biomacromolecule", - "abnormal blood nitrogen molecular entity level", - "protein", - "abnormal protein level", - "Hyperproteinemia", - "abnormal blood serum chemical entity level", - "increased blood serum base level", - "increased level of parathyroid hormone in blood", - "increased level of monosaccharide in independent continuant", - "glucose", - "aldohexose", - "Glycosuria", - "abnormal independent continuant glucose level", - "increased level of monosaccharide in urine", - "increased level of calcium atom in urine", - "carbohydrates and carbohydrate derivatives", - "Constitutional symptom", - "increased level of glucose in independent continuant", - "Abnormal urinary organic compound level", - "abnormal urine glucose level", - "Alkalemia", - "peptide", - "Abnormal urine protein level", - "increased level of protein polypeptide chain in independent continuant", - "primary amide", - "carboxamide", - "macromolecule", - "amide", - "abnormal independent continuant parathyroid hormone level", - "abnormal independent continuant protein polypeptide chain level", - "glandular system", - "increased level of chemical entity in blood", - "Abnormality of urine calcium concentration", - "Abnormal metabolism", - "Short stature", - "non-connected functional system", - "abnormal metabolite independent continuant level", - "calcitriol", - "seco-steroid", - "endocrine system", - "organic substance metabolic process", - "increased blood role level", - "vitamin metabolic process", - "Abnormal circulating organic amino compound concentration", - "lipid metabolic process", - "abnormal independent continuant lipid level", - "increased independent continuant hormone level", - "aldose", - "polypeptide", - "hydroxycalciol", - "fat-soluble vitamin metabolic process", - "vitamin D metabolic process", - "steroid metabolic process", - "abnormal growth", - "increased level of lipid in blood", - "cyclic compound", - "increased level of protein", - "triol", - "abnormal role bodily fluid level", - "abnormal role blood level", - "abnormal vitamin D level", - "abnormal vitamin metabolic process", - "Hyperlipidemia", - "organic hydroxy compound", - "organic cyclic compound", - "information biomacromolecule", - "increased bodily fluid role level", - "abnormal lipid metabolic process", - "abnormal hormone blood level", - "increased level of vitamin D", - "Renal insufficiency", - "increased level of chemical entity in urine", - "metal atom", - "Elevated urinary carboxylic acid", - "hydrogen molecular entity", - "delayed growth", - "Abnormal urine carboxylic acid level", - "decreased size of the anatomical entity in the independent continuant", - "increased level of chemical entity in blood serum", - "abnormal independent continuant carbohydrate level", - "amino acid", - "increased level of organic molecular entity in independent continuant", - "Abnormal glomerular filtration rate", - "increased level of organic acid in urine", - "Aminoaciduria", - "increased level of nitrogen molecular entity in independent continuant", - "atom", - "organic cyclic compound metabolic process", - "Abnormal urine metabolite level", - "monoatomic entity", - "increased independent continuant role level", - "protein-containing material entity", - "Generalized aminoaciduria", - "abnormal anatomical entity morphology in the independent continuant", - "organochalcogen compound", - "nitrogen molecular entity", - "increased blood serum role level", - "abnormal blood phosphate level", - "increased independent continuant acid level", - "heteroorganic entity", - "organonitrogen compound", - "abnormal role independent continuant level", - "abnormal blood lipid level", - "oxoacid", - "decreased height of the anatomical entity", - "organic oxo compound", - "increased level of glucose in urine", - "Abnormal circulating organic compound concentration", - "increased level of organic acid in independent continuant", - "Pain", - "increased level of amino acid in urine", - "Aciduria", - "Osteopenia", - "mesoderm-derived structure", - "increased level of carboxylic acid in independent continuant", - "vitamin D", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal independent continuant carboxylic acid level", - "Abnormal musculoskeletal physiology", - "nephron tubule", - "renal tubule", - "Abnormality of the skeletal system", - "uriniferous tubule", - "Increased susceptibility to fractures", - "phosphorus oxoacid derivative", - "epithelium", - "organic molecular entity", - "nephron", - "abnormal urine amino acid level", - "bone element", - "Abnormal urine pH", - "anatomical conduit", - "organism subdivision", - "epithelial tube", - "abnormality of kidney physiology", - "Abnormal renal physiology", - "oxygen molecular entity", - "Abnormality of the kidney", - "chalcogen molecular entity", - "cavitated compound organ", - "abnormal kidney", - "main body axis", - "subdivision of organism along main body axis", - "growth", - "hydroxides", - "Abnormality of the upper urinary tract", - "Abnormal homeostasis", - "increased independent continuant base level", - "excretory tube", - "upper urinary tract", - "Decreased anatomical entity mass density", - "abdomen element", - "compound organ", - "lateral structure", - "non-functional kidney", - "abnormally decreased functionality of the nephron tubule", - "Renal phosphate wasting", - "anatomical entity dysfunction in independent continuant", - "haemolymphatic fluid", - "hematopoietic system", - "primary metabolic process", - "ossification", - "abnormal anatomical entity morphology", - "abnormal biological_process", - "hydroxy seco-steroid", - "abnormal hormone independent continuant level", - "Hypophosphatemia", - "abnormal urine phosphate level", - "p-block molecular entity", - "abnormal hematopoietic system", - "bodily fluid", - "protein polypeptide chain", - "Abnormal blood ion concentration", - "abnormality of musculoskeletal system physiology", - "organic hydroxy compound metabolic process", - "abnormal blood chemical entity level", - "nephron epithelium", - "Abnormality of the endocrine system", - "abnormal independent continuant monoatomic ion level", - "multicellular anatomical structure", - "abnormal amino acid level", - "trunk", - "carbonyl compound", - "Abnormality of vitamin D metabolism", - "hemolymphoid system", - "alkaline earth metal atom", - "abnormal homeostatic process", - "abnormality of multicellular organism height", - "increased level of protein polypeptide chain in urine", - "increased level of calcitriol in blood", - "abnormal independent continuant chemical entity level", - "anatomical system", - "abnormal blood monoatomic ion level", - "anatomical entity", - "Abnormal skeletal morphology", - "decreased level of chemical entity in independent continuant", - "monoatomic ion", - "High serum calcitriol", - "anatomical structure", - "Abnormality of the urinary system", - "Abnormality of blood and blood-forming tissues", - "calcium atom", - "Recurrent fractures", - "material entity", - "inorganic ion homeostasis", - "Abnormal circulating nitrogen compound concentration", - "monosaccharide", - "Abnormal blood phosphate concentration", - "abnormal acid independent continuant level", - "abnormal chemical homeostasis", - "Abnormality of urine homeostasis", - "multicellular organismal process", - "skeletal element", - "increased level of parathyroid hormone in independent continuant", - "pnictogen molecular entity", - "abnormal metabolic process", - "abdomen", - "abnormal phosphate ion homeostasis", - "abnormal multicellular organism chemical entity level", - "excreta", - "increased bodily fluid base level", - "carbohydrate", - "abnormal endocrine system", - "abnormal role urine level", - "homeostatic process", - "Acute phase response", - "carbon group molecular entity", - "Abnormality of metabolism/homeostasis", - "decreased level of phosphate in blood", - "decreased level of chemical entity in blood", - "Abnormal urine phosphate concentration", - "increased level of lipid", - "urine", - "increased level of carboxylic acid in urine", - "organism substance", - "monoatomic ion homeostasis", - "amino acid chain", - "Organic aciduria", - "s-block molecular entity", - "genitourinary system", - "abnormal role blood serum level", - "Abnormality of the musculoskeletal system", - "increased level of calcitriol in independent continuant", - "chemical entity", - "abnormal independent continuant protein level", - "subdivision of trunk", - "elemental molecular entity", - "Abnormal urinary electrolyte concentration", - "abnormal independent continuant phosphate level", - "increased level of protein in independent continuant", - "tube", - "abnormal phosphate level", - "Proteinuria", - "phosphorus molecular entity", - "abdominal segment of trunk", - "Abnormality of bone mineral density", - "oxoacid derivative", - "Abnormal circulating calcium-phosphate regulating hormone concentration", - "phosphate", - "tissue", - "Reduced bone mineral density", - "abnormal chemical entity level", - "abnormal independent continuant amino acid level", - "phenotype", - "abnormal renal system", - "abnormally decreased functionality of the anatomical entity", - "kidney epithelium", - "main group molecular entity", - "abnormal genitourinary system", - "abdominal segment element", - "hexose", - "increased level of lipid in independent continuant", - "Abnormal bone structure", - "organ part", - "organic acid", - "heteroatomic molecular entity", - "D3 vitamins", - "ion", - "abnormality of renal system physiology", - "polyatomic entity", - "abnormal primary metabolic process", - "organic amino compound", - "abnormal vitamin D metabolic process", - "entity", - "Osteomalacia", - "molecule", - "occurrent", - "abnormal skeletal system morphology", - "organooxygen compound", - "Abnormal circulating lipid concentration", - "polyol", - "Renal tubular dysfunction", - "abnormal blood parathyroid hormone level", - "Phenotypic abnormality", - "metabolic process", - "carbon oxoacid", - "polycyclic compound", - "abnormal urine chemical entity level", - "increased level of parathyroid hormone in blood serum", - "abnormal phenotype by ontology source", - "Abnormality of the genitourinary system", - "Abnormal circulating hormone concentration", - "quality", - "process", - "abnormal lipid level", - "body proper", - "Abnormality of vitamin metabolism", - "All", - "abnormal anatomical entity mass density", - "continuant", - "abnormal blood plasma chemical entity level", - "Decreased bone element mass density", - "phosphate ion homeostasis", - "abnormal upper urinary tract", - "specifically dependent continuant", - "blood serum", - "organic polycyclic compound", - "abnormal bone element mass density", - "material anatomical entity", - "kidney", - "independent continuant", - "multicellular organism", - "abnormality of anatomical entity physiology", - "parathyroid hormone", - "Abnormal bone ossification", - "hydroxy steroid", - "Abnormality of the urinary system physiology", - "decreased size of the anatomical entity", - "musculoskeletal system", - "increased level of chemical entity in bodily fluid", - "phosphorus oxoacids and derivatives", - "organic molecule", - "abnormal small molecule metabolic process", - "carboxylic acid", - "phosphoric acid derivative", - "biological_process", - "Abnormal circulating protein concentration", - "increased level of chemical entity in independent continuant", - "skeletal system", - "increased level of nitrogen molecular entity in blood", - "Abnormal circulating metabolite concentration", - "increased level of chemical entity", - "increased level of amino acid in independent continuant", - "abnormality of anatomical entity height", - "excretory system", - "abnormal size of multicellular organism", - "small molecule metabolic process", - "renal system", - "abnormal skeletal system", - "steroid", - "phenotype by ontology source", - "abnormal monoatomic ion homeostasis", - "blood plasma", - "chemical homeostasis", - "abnormal anatomical entity", - "increased level of chemical entity in blood plasma", - "Rickets", - "protein-containing molecular entity", - "disconnected anatomical group", - "molecular entity", - "Proximal tubulopathy", - "organ", - "Decreased glomerular filtration rate", - "blood", - "organ system subdivision", - "Growth abnormality", - "lipid", - "decreased level of phosphate in independent continuant", - "trunk region element", - "decreased level of chemical entity" - ], - "has_phenotype_count": 17, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0100238", - "category": "biolink:Disease", - "name": "inherited Fanconi renotubular syndrome", - "full_name": null, - "deprecated": null, - "description": "An instance of Fanconi renotubular syndrome that is inherited.", - "xref": ["OMIMPS:134600"], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": ["hereditary Fanconi renotubular syndrome"], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0030056", - "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 5", - "full_name": null, - "deprecated": null, - "description": null, - "xref": ["DOID:0080761", "GARD:16392", "OMIM:618913"], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": [ - "FANCONI RENOTUBULAR SYNDROME 5", - "FRTS5", - "Fanconi Renotubular Syndrome, Acadian Variant", - "Fanconi renotubular syndrome 5" - ], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0002148", - "HP:0002206", - "HP:0004912", - "HP:0002857", - "HP:0004918", - "HP:0045051", - "HP:0000093", - "HP:0003076", - "HP:0002097", - "HP:0003355", - "HP:0005576", - "HP:0003774", - "HP:0000822", - "HP:0030078" - ], - "has_phenotype_label": [ - "Hypophosphatemia", - "Pulmonary fibrosis", - "Hypophosphatemic rickets", - "Genu valgum", - "Hyperchloremic metabolic acidosis", - "Decreased DLCO", - "Proteinuria", - "Glycosuria", - "Emphysema", - "Aminoaciduria", - "Tubulointerstitial fibrosis", - "Stage 5 chronic kidney disease", - "Hypertension", - "Lung adenocarcinoma" - ], - "has_phenotype_closure": [ - "HP:0011793", - "UBERON:0004537", - "HP:0000822", - "HP:0012072", - "UBERON:0001558", - "UBERON:0000477", - "UPHENO:0052116", - "UPHENO:0086132", - "UPHENO:0002411", - "CHEBI:24867", - "HP:0012211", - "UBERON:0002049", - "HP:0003774", - "UPHENO:0076779", - "UBERON:0005172", - "UBERON:0002113", - "UBERON:0001981", - "UBERON:0013701", - "UBERON:0011143", - "UBERON:0000483", - "UBERON:0001231", - "UPHENO:0087427", - "UPHENO:0087993", - "UBERON:0003914", - "HP:0002664", - "HP:0001969", - "HP:0010935", - "HP:0000091", - "UBERON:0006555", - "UBERON:0000026", - "UBERON:0007684", - "HP:0012575", - "UBERON:0002417", - "CHEBI:25367", - "CHEBI:35605", - "CHEBI:36586", - "CHEBI:33674", - "HP:0032581", - "CHEBI:33575", - "UPHENO:0068040", - "UPHENO:0068565", - "CHEBI:33709", - "UPHENO:0051930", - "HP:0001992", - "UPHENO:0078554", - "UPHENO:0068491", - "BFO:0000001", - "UBERON:0003823", - "UPHENO:0002406", - "CHEBI:24651", - "UPHENO:0001002", - "CHEBI:24833", - "HP:0000083", - "CHEBI:16646", - "UPHENO:0076299", - "UBERON:0001474", - "HP:0000077", - "UPHENO:0002896", - "UPHENO:0068495", - "UPHENO:0004459", - "HP:0003355", - "CHEBI:18133", - "UBERON:0000178", - "UPHENO:0076767", - "CHEBI:17234", - "CHEBI:35381", - "UPHENO:0080659", - "UBERON:0010707", - "HP:6000531", - "UPHENO:0051640", - "UPHENO:0068058", - "UBERON:0004120", - "UPHENO:0068054", - "CHEBI:33285", - "UBERON:0005173", - "CHEBI:36962", - "CHEBI:32988", - "HP:0012252", - "UPHENO:0080362", - "CHEBI:33839", - "UPHENO:0051739", - "UPHENO:0081544", - "HP:0030078", - "CHEBI:37622", - "UBERON:0004211", - "CHEBI:50047", - "CHEBI:78616", - "HP:0001941", - "CHEBI:50860", - "UPHENO:0002642", - "UPHENO:0002442", - "HP:0000093", - "UBERON:0000174", - "CHEBI:25806", - "UBERON:0001088", - "UPHENO:0049628", - "CHEBI:15841", - "HP:0012210", - "HP:0011842", - "CHEBI:33304", - "UBERON:0001008", - "UPHENO:0051670", - "UBERON:0013702", - "UPHENO:0068538", - "HP:0045051", - "HP:0030878", - "HP:0004918", - "UPHENO:0068089", - "UPHENO:0079536", - "UBERON:0000061", - "UPHENO:0031193", - "UPHENO:0076289", - "UPHENO:0068064", - "UBERON:0000468", - "HP:0012337", - "UPHENO:0081547", - "HP:0001942", - "HP:0001995", - "CHEBI:37577", - "UBERON:0010912", - "UPHENO:0068091", - "UPHENO:0081546", - "UPHENO:0051668", - "UPHENO:0002832", - "UBERON:0001009", - "HP:0004360", - "UPHENO:0051709", - "HP:0000079", - "HP:0002206", - "RO:0002577", - "UPHENO:0086128", - "UBERON:0000154", - "UPHENO:0041258", - "UBERON:0005055", - "UBERON:0002513", - "CHEBI:33256", - "UBERON:0004708", - "HP:0100606", - "HP:0005576", - "UPHENO:0086780", - "UPHENO:0041098", - "UPHENO:0080658", - "UPHENO:0041610", - "HP:0011277", - "UBERON:0010740", - "UBERON:0010758", - "UPHENO:0087462", - "UPHENO:0002885", - "HP:0003330", - "HP:0002979", - "UBERON:0004122", - "HP:0006487", - "HP:0011314", - "CHEBI:16541", - "UPHENO:0084763", - "UPHENO:0086628", - "CHEBI:33238", - "UBERON:0010363", - "UPHENO:0076740", - "UBERON:0003840", - "UPHENO:0048707", - "UBERON:0002471", - "UBERON:0010000", - "UBERON:0008784", - "UBERON:0000982", - "UBERON:0000916", - "UPHENO:0049904", - "UBERON:0000978", - "UPHENO:0003070", - "UBERON:0002075", - "HP:0001367", - "HP:0000940", - "HP:0002597", - "CHEBI:72695", - "HP:0032180", - "UPHENO:0082129", - "UPHENO:0041536", - "HP:0002814", - "UPHENO:0086635", - "UPHENO:0075945", - "UBERON:0000475", - "UBERON:0001004", - "UBERON:0004709", - "UBERON:0004770", - "UPHENO:0084654", - "UBERON:0004381", - "HP:0002748", - "UPHENO:0086956", - "UPHENO:0066739", - "UBERON:0001465", - "UBERON:0002091", - "CHEBI:15693", - "UBERON:0010538", - "HP:0011025", - "UBERON:0002390", - "UBERON:0034923", - "UPHENO:0068144", - "CHEBI:33675", - "CHEBI:33241", - "GO:0008150", - "UBERON:0015061", - "UPHENO:0051763", - "UPHENO:0002536", - "UBERON:0001434", - "UBERON:0005913", - "UBERON:0004819", - "UBERON:0006058", - "UPHENO:0076294", - "UBERON:0004288", - "UBERON:0000171", - "UBERON:0010709", - "UPHENO:0080300", - "UBERON:0004905", - "HP:0001626", - "UBERON:0000179", - "UBERON:0034944", - "GO:0008152", - "UPHENO:0051801", - "HP:0002815", - "CHEBI:64709", - "UPHENO:0041591", - "UPHENO:0082834", - "UBERON:0002204", - "UPHENO:0068247", - "HP:0040068", - "GO:0050801", - "HP:0100491", - "GO:0032501", - "CHEBI:35352", - "HP:0000924", - "HP:0004348", - "BFO:0000002", - "GO:0001503", - "UPHENO:0086908", - "UBERON:0002428", - "HP:0004349", - "UPHENO:0084653", - "CHEBI:51143", - "HP:0004912", - "UPHENO:0076703", - "CHEBI:36357", - "UBERON:0002048", - "CHEBI:36587", - "UPHENO:0002803", - "UPHENO:0002332", - "UPHENO:0076727", - "UPHENO:0031310", - "UPHENO:0075696", - "CHEBI:16670", - "UBERON:0000072", - "UPHENO:0082449", - "HP:0032943", - "HP:0033127", - "HP:0030358", - "UBERON:0015212", - "HP:0045049", - "UPHENO:0079873", - "GO:0048878", - "HP:0034669", - "UBERON:0002101", - "UBERON:0009569", - "UBERON:0011676", - "CHEBI:33917", - "HP:0002795", - "UPHENO:0051635", - "HP:0040064", - "UPHENO:0015280", - "UPHENO:0082875", - "UBERON:0005178", - "UBERON:0004535", - "CHEBI:36360", - "HP:0000119", - "UPHENO:0004536", - "HP:0033354", - "UPHENO:0076714", - "UBERON:0005177", - "UBERON:0002529", - "UBERON:0004765", - "UBERON:0001005", - "HP:0001871", - "UBERON:0000025", - "UPHENO:0082835", - "UBERON:0003103", - "HP:0030972", - "UBERON:0004375", - "UPHENO:0001003", - "UBERON:0000463", - "CHEBI:33579", - "UPHENO:0019970", - "UPHENO:0020748", - "UBERON:0000170", - "HP:0040156", - "HP:0003110", - "UPHENO:0046284", - "UPHENO:0087433", - "UPHENO:0082542", - "HP:0002086", - "UBERON:0011249", - "UBERON:0000489", - "UPHENO:0051686", - "UPHENO:0051960", - "CHEBI:26079", - "HP:0002088", - "UBERON:0000065", - "UPHENO:0002678", - "UPHENO:0081548", - "UBERON:0000064", - "HP:0020129", - "UBERON:0034925", - "UPHENO:0020584", - "UBERON:0034921", - "UPHENO:0076692", - "UBERON:0005181", - "UBERON:0011582", - "UBERON:0000915", - "CHEBI:24870", - "HP:0003076", - "UPHENO:0041573", - "BFO:0000003", - "HP:0006530", - "HP:0100526", - "UBERON:0004119", - "GO:0055062", - "UPHENO:0077821", - "UBERON:0000055", - "UPHENO:0002964", - "UPHENO:0068169", - "UPHENO:0082543", - "CHEBI:24431", - "UPHENO:0002448", - "PR:000050567", - "UBERON:0000062", - "GO:0042592", - "UPHENO:0075952", - "CHEBI:33608", - "UBERON:0003657", - "UPHENO:0034391", - "UBERON:0000075", - "UBERON:0004111", - "UPHENO:0034253", - "PATO:0000001", - "HP:0031980", - "UPHENO:0068110", - "HP:0100529", - "HP:0011844", - "CHEBI:23367", - "UPHENO:0041226", - "UPHENO:0034351", - "UBERON:0010712", - "UPHENO:0082538", - "CHEBI:33582", - "HP:0002981", - "UBERON:0002100", - "UPHENO:0050080", - "UPHENO:0051847", - "UBERON:0006314", - "HP:0003111", - "CHEBI:36359", - "UBERON:0002193", - "CHEBI:33259", - "HP:0011849", - "UBERON:0009773", - "UBERON:0002103", - "GO:0098771", - "UPHENO:0049587", - "HP:0002148", - "CHEBI:36963", - "UPHENO:0051804", - "UBERON:0002495", - "UBERON:0013522", - "UPHENO:0082539", - "BFO:0000015", - "UBERON:0001062", - "BFO:0000020", - "CHEBI:26082", - "HP:0002097", - "UPHENO:0034217", - "UPHENO:0001005", - "HP:0001939", - "UBERON:8450002", - "UPHENO:0077858", - "HP:0002813", - "CHEBI:26020", - "BFO:0000040", - "HP:0002857", - "UPHENO:0046348", - "UPHENO:0046286", - "UPHENO:0051937", - "UPHENO:0001001", - "UBERON:0000467", - "UPHENO:0020041", - "HP:0030760", - "BFO:0000004", - "UBERON:0011216", - "HP:0012622", - "UPHENO:0084767", - "UBERON:0000465", - "UPHENO:0076756", - "HP:0032263", - "CHEBI:33302", - "UBERON:0004769", - "UPHENO:0002830", - "UPHENO:0051186", - "UPHENO:0081550", - "UBERON:0007798", - "UPHENO:0082467", - "UBERON:0000479", - "HP:0000118", - "UBERON:0001285", - "UPHENO:0075902", - "HP:0000001" - ], - "has_phenotype_closure_label": [ - "Non-small cell lung carcinoma", - "Neoplasm of the respiratory system", - "Neoplasm of the lung", - "vasculature", - "cardiovascular system", - "abnormal leg", - "blood vessel", - "lower respiratory tract", - "abnormal biological_process", - "glucose", - "Abnormality of the cardiovascular system", - "thoracic segment of trunk", - "peptide", - "vascular system", - "Hypertension", - "Abnormal systemic blood pressure", - "Stage 5 chronic kidney disease", - "Organic aciduria", - "Chronic kidney disease", - "Lung adenocarcinoma", - "non-functional kidney", - "non-functional anatomical entity", - "increased level of chemical entity in bodily fluid", - "carbon oxoacid", - "nephron tubule", - "nephron epithelium", - "abnormal upper urinary tract", - "nephron", - "Abnormality of limb bone morphology", - "respiratory airway", - "epithelial tube", - "kidney epithelium", - "Abnormal renal tubule morphology", - "increased level of monosaccharide in independent continuant", - "blood vasculature", - "abdominal segment element", - "abnormal phenotype by ontology source", - "abnormal nephron morphology", - "abnormal kidney", - "Abnormality of limbs", - "Abnormal renal morphology", - "kidney", - "zone of long bone", - "abnormal renal system morphology", - "abnormal kidney morphology", - "Elevated urinary carboxylic acid", - "abnormal independent continuant carboxylic acid level", - "Renal insufficiency", - "increased level of organic acid in urine", - "Abnormality of the upper urinary tract", - "chemical homeostasis", - "hydroxides", - "organic molecule", - "molecule", - "oxoacid", - "increased independent continuant acid level", - "organic oxo compound", - "elemental molecular entity", - "Emphysema", - "Abnormality of the vasculature", - "aldohexose", - "skeleton", - "Glycosuria", - "Pulmonary fibrosis", - "skeletal system", - "upper urinary tract", - "increased level of organic acid in independent continuant", - "organooxygen compound", - "increased level of glucose in urine", - "hindlimb", - "Abnormal renal insterstitial morphology", - "abnormal urine glucose level", - "Abnormality of urine homeostasis", - "increased level of chemical entity in urine", - "cavitated compound organ", - "chalcogen molecular entity", - "renal system", - "phenotype by ontology source", - "excreta", - "abnormal cardiovascular system", - "organic acid", - "articulation", - "Abnormality of the urinary system physiology", - "increased level of organic molecular entity in independent continuant", - "abnormal vasculature", - "abnormal urine chemical entity level", - "Abnormal urine metabolite level", - "s-block molecular entity", - "genitourinary system", - "excretory system", - "increased level of protein polypeptide chain in independent continuant", - "abnormal genitourinary system", - "primary amide", - "carboxamide", - "organic amino compound", - "Abnormal cardiovascular system physiology", - "organic molecular entity", - "Decreased bone element mass density", - "organism subdivision", - "abnormality of renal system physiology", - "organ", - "heteroorganic entity", - "amide", - "organonitrogen compound", - "Abnormal urinary organic compound level", - "Decreased DLCO", - "renal tubule", - "Abnormality on pulmonary function testing", - "limb endochondral element", - "abnormal acid bodily fluid level", - "increased level of amino acid in independent continuant", - "increased level of chemical entity", - "oxygen molecular entity", - "Abnormality of acid-base homeostasis", - "excretory tube", - "monoatomic ion homeostasis", - "increased independent continuant base level", - "Abnormal homeostasis", - "increased level of protein polypeptide chain in urine", - "abnormal role bodily fluid level", - "Metabolic acidosis", - "zone of bone organ", - "increased bodily fluid role level", - "abnormal independent continuant glucose level", - "Hyperchloremic metabolic acidosis", - "subdivision of organism along appendicular axis", - "amino acid", - "abnormal skeletal system morphology", - "abnormal independent continuant carbohydrate level", - "bone of free limb or fin", - "paired limb/fin skeleton", - "abnormal anatomical entity", - "paired limb/fin", - "Abnormal appendicular skeleton morphology", - "abnormal hindlimb joint", - "Aciduria", - "zone of organ", - "pelvic appendage", - "lateral structure", - "limb", - "Increased blood pressure", - "Hyperchloremic acidosis", - "Bowing of the long bones", - "Abnormality of lower limb joint", - "Abnormal joint morphology", - "carboxylic acid", - "curved hindlimb zeugopod", - "endochondral element", - "abnormal kidney epithelium morphology", - "limb bone", - "thoracic cavity element", - "limb joint", - "Abnormality of the kidney", - "abnormal diaphysis morphology in the independent continuant", - "Abnormal diaphysis morphology", - "Abnormality of the skeletal system", - "abdominal segment of trunk", - "abnormal limb", - "posterior region of body", - "increased level of nitrogen molecular entity in independent continuant", - "Abnormality of the knee", - "system", - "macromolecule", - "Bowing of the legs", - "Abnormal knee morphology", - "abnormal knee morphology", - "entity", - "zeugopod", - "lower limb segment", - "abnormal long bone morphology", - "abnormality of kidney physiology", - "knee", - "abnormal bone element mass density", - "Abnormality of bone mineral density", - "limb skeleton subdivision", - "Abnormality of the genitourinary system", - "pelvic complex", - "Abnormal respiratory system physiology", - "epithelium", - "Decreased anatomical entity mass density", - "hexose", - "Abnormal bone structure", - "monosaccharide", - "abnormal hindlimb morphology", - "oxoacid derivative", - "abnormal independent continuant phosphate level", - "pair of lungs", - "abnormal diaphysis morphology", - "curved anatomical entity in independent continuant", - "diaphysis", - "articular system", - "endochondral bone", - "hydrogen molecular entity", - "abnormal appendicular skeleton morphology", - "abnormal skeletal joint morphology", - "abnormality of respiratory system physiology", - "Abnormality of limb bone", - "abnormal knee", - "independent continuant", - "Genu valgum", - "abnormal independent continuant chemical entity level", - "Abnormal respiratory system morphology", - "curved anatomical entity", - "subdivision of trunk", - "abdomen element", - "abnormal hindlimb zeugopod", - "abnormal hindlimb zeugopod, curved", - "phosphate ion homeostasis", - "abnormal anatomical entity, curved", - "musculoskeletal system", - "Abnormal urine pH", - "abnormal anatomical entity morphology", - "ossification", - "appendage girdle complex", - "limb segment", - "shape anatomical entity", - "Abnormality of the musculoskeletal system", - "Hypophosphatemic rickets", - "curvature anatomical entity", - "Abnormal lung morphology", - "lung fibrosis", - "hindlimb joint", - "anatomical cluster", - "specifically dependent continuant", - "abnormal role independent continuant level", - "protein-containing material entity", - "biological_process", - "subdivision of skeleton", - "abnormal phosphate level", - "increased level of chemical entity in independent continuant", - "abnormal chemical entity level", - "Reduced bone mineral density", - "Abnormality of the respiratory system", - "abnormal skeletal system", - "appendicular skeleton", - "All", - "abnormal anatomical entity mass density", - "abnormal urine amino acid level", - "bone element", - "body proper", - "proximo-distal subdivision of respiratory tract", - "aldose", - "abnormal respiratory system", - "polypeptide", - "Abnormal pulmonary interstitial morphology", - "circulatory system", - "abnormal role urine level", - "subdivision of skeletal system", - "respiratory tract", - "Hypophosphatemia", - "anatomical conduit", - "appendicular skeletal system", - "abnormal independent continuant nitrogen molecular entity level", - "thoracic segment organ", - "anatomical entity", - "abnormal independent continuant protein polypeptide chain level", - "urine", - "Abnormal renal physiology", - "respiratory system", - "increased level of amino acid in urine", - "abnormal anatomical entity morphology in the appendage girdle complex", - "anatomical collection", - "abnormal hindlimb zeugopod morphology", - "increased level of glucose in independent continuant", - "abnormal limb morphology", - "Abnormal tubulointerstitial morphology", - "main body axis", - "skeletal element", - "curved long bone", - "abnormal respiratory system morphology", - "subdivision of organism along main body axis", - "long bone", - "Abnormal bone ossification", - "lung", - "p-block molecular entity", - "abnormal hematopoietic system", - "abnormal lung morphology", - "abnormal limb bone", - "abnormality of anatomical entity physiology", - "phosphorus oxoacid derivative", - "occurrent", - "decreased level of chemical entity", - "trunk region element", - "shape long bone", - "Abnormality of the calf", - "Abnormal skeletal morphology", - "Tubulointerstitial fibrosis", - "decreased level of chemical entity in independent continuant", - "monoatomic ion", - "paired limb/fin segment", - "abnormality of cardiovascular system physiology", - "abnormal monoatomic ion homeostasis", - "carbohydrate", - "homeostatic process", - "carbon group molecular entity", - "Abnormality of metabolism/homeostasis", - "protein polypeptide chain", - "Abnormal blood ion concentration", - "Neoplasm", - "abnormal blood phosphate level", - "curvature anatomical entity in independent continuant", - "Abnormal circulating metabolite concentration", - "Proteinuria", - "abnormal independent continuant amino acid level", - "abnormal renal system", - "phenotype", - "Rickets", - "disconnected anatomical group", - "molecular entity", - "abnormal blood chemical entity level", - "carbohydrates and carbohydrate derivatives", - "bone of appendage girdle complex", - "chemical entity", - "increased independent continuant role level", - "decreased level of chemical entity in blood", - "decreased level of phosphate in blood", - "increased level of carboxylic acid in urine", - "multicellular organismal process", - "pnictogen molecular entity", - "multi-limb segment region", - "leg", - "tube", - "abnormal metabolite independent continuant level", - "respiration organ", - "heteroatomic molecular entity", - "viscus", - "organism substance", - "Abnormal urine protein level", - "abnormal shape of continuant", - "abnormal multicellular organism chemical entity level", - "skeletal joint", - "Abnormal urine carboxylic acid level", - "endoderm-derived structure", - "phosphorus molecular entity", - "Abnormality of the urinary system", - "Abnormality of blood and blood-forming tissues", - "anatomical structure", - "abnormal independent continuant monoatomic ion level", - "monoatomic entity", - "shape anatomical entity in independent continuant", - "uriniferous tubule", - "quality", - "organ system subdivision", - "process", - "abnormal blood monoatomic ion level", - "anatomical system", - "abnormal nephron tubule morphology", - "abnormal amino acid level", - "carbonyl compound", - "Acidosis", - "trunk", - "multicellular anatomical structure", - "hemolymphoid system", - "Renal fibrosis", - "abnormal anatomical entity morphology in the pelvic complex", - "hindlimb zeugopod", - "bodily fluid", - "Neoplasm by anatomical site", - "Abnormal DLCO", - "continuant", - "abnormal homeostatic process", - "skeleton of limb", - "decreased level of phosphate in independent continuant", - "multi organ part structure", - "Abnormal long bone morphology", - "vessel", - "metabolic process", - "Phenotypic abnormality", - "increased level of monosaccharide in urine", - "haemolymphatic fluid", - "abnormal acid independent continuant level", - "abnormal chemical homeostasis", - "subdivision of tube", - "hematopoietic system", - "phosphorus oxoacids and derivatives", - "organ part", - "shape hindlimb zeugopod", - "blood", - "increased level of carboxylic acid in independent continuant", - "mesoderm-derived structure", - "increased bodily fluid acid level", - "tissue", - "phosphate", - "abdomen", - "abnormal phosphate ion homeostasis", - "Abnormal blood phosphate concentration", - "organochalcogen compound", - "nitrogen molecular entity", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal limb bone morphology", - "polyatomic entity", - "ion", - "main group molecular entity", - "multicellular organism", - "phosphoric acid derivative", - "Aminoaciduria", - "anatomical entity fibrosis", - "Abnormal nephron morphology", - "material entity", - "inorganic ion homeostasis", - "appendage", - "material anatomical entity", - "Abnormality of the lower limb", - "compound organ" - ], - "has_phenotype_count": 14, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0014275", - "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 3", - "full_name": null, - "deprecated": null, - "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.", - "xref": ["DOID:0080759", "GARD:15991", "OMIM:615605", "UMLS:C3810100"], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": [ - "EHHADH Fanconi syndrome", - "FRTS3", - "Fanconi renotubular syndrome 3", - "Fanconi renotubular syndrome type 3", - "Fanconi syndrome caused by mutation in EHHADH" - ], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0001510", - "HP:0003259", - "HP:0001942", - "HP:0003109", - "HP:0002748", - "HP:0002979", - "HP:0003076", - "HP:0000083", - "HP:0004322", - "HP:0003355", - "HP:0003126" - ], - "has_phenotype_label": [ - "Growth delay", - "Elevated circulating creatinine concentration", - "Metabolic acidosis", - "Hyperphosphaturia", - "Rickets", - "Bowing of the legs", - "Glycosuria", - "Renal insufficiency", - "Short stature", - "Aminoaciduria", - "Low-molecular-weight proteinuria" - ], - "has_phenotype_closure": [ - "UPHENO:0051801", - "UPHENO:0068565", - "HP:0000093", - "CHEBI:15841", - "HP:0040156", - "CHEBI:35605", - "CHEBI:36586", - "CHEBI:50047", - "CHEBI:33575", - "CHEBI:33709", - "UPHENO:0051930", - "HP:0001992", - "HP:0003355", - "HP:0000002", - "UPHENO:0075195", - "UPHENO:0080351", - "HP:0004322", - "UPHENO:0081423", - "UPHENO:0080352", - "UBERON:0011676", - "UPHENO:0086132", - "UPHENO:0086128", - "UBERON:0005172", - "UBERON:0002113", - "UBERON:0011143", - "UBERON:0003103", - "UPHENO:0002411", - "HP:0012211", - "HP:0010935", - "UBERON:0000489", - "UBERON:0002417", - "CHEBI:18133", - "UPHENO:0052116", - "CHEBI:33917", - "UPHENO:0051739", - "UPHENO:0081544", - "CHEBI:35381", - "UPHENO:0080659", - "UPHENO:0068058", - "HP:6000531", - "HP:0033354", - "UPHENO:0068054", - "UBERON:0015212", - "RO:0002577", - "UPHENO:0002896", - "UBERON:0000154", - "UPHENO:0069254", - "UPHENO:0041258", - "UPHENO:0031193", - "UPHENO:0015280", - "UBERON:0005055", - "HP:0003126", - "UBERON:0002513", - "UBERON:0010707", - "UPHENO:0086780", - "UBERON:0002495", - "UBERON:0010740", - "UBERON:0010758", - "UPHENO:0051635", - "HP:0040064", - "HP:0002979", - "HP:0011314", - "CHEBI:16541", - "UPHENO:0084763", - "UPHENO:0086628", - "HP:0002981", - "UBERON:0008784", - "UBERON:0000075", - "UBERON:0000916", - "UBERON:0000978", - "UPHENO:0003070", - "UBERON:0013701", - "HP:0002814", - "UPHENO:0086635", - "UBERON:0000475", - "UBERON:0004709", - "UBERON:0009569", - "UBERON:0002101", - "UBERON:0004769", - "UPHENO:0002830", - "UPHENO:0020041", - "UPHENO:0079873", - "UBERON:0003823", - "UBERON:0002091", - "UPHENO:0082542", - "UBERON:0010712", - "UBERON:0011249", - "CHEBI:15693", - "UBERON:0010538", - "UBERON:0002428", - "UBERON:0002103", - "HP:0002157", - "UBERON:0011582", - "UPHENO:0082129", - "UBERON:0010709", - "UPHENO:0080300", - "CHEBI:64709", - "UPHENO:0041591", - "UPHENO:0082835", - "UPHENO:0046284", - "CHEBI:38261", - "HP:0003110", - "HP:0003330", - "CHEBI:35352", - "HP:0000924", - "HP:0004348", - "BFO:0000002", - "GO:0008152", - "GO:0001503", - "HP:0004349", - "UPHENO:0084653", - "UPHENO:0086956", - "UBERON:0004381", - "HP:0002748", - "UPHENO:0076703", - "CHEBI:36587", - "UPHENO:0084654", - "UBERON:0010363", - "UBERON:0001474", - "UPHENO:0002803", - "UPHENO:0076727", - "UPHENO:0031310", - "CHEBI:16670", - "UPHENO:0082449", - "HP:0032943", - "CHEBI:38304", - "HP:0033127", - "UBERON:0000179", - "UBERON:0002390", - "UBERON:0034944", - "GO:0042592", - "HP:0000079", - "CHEBI:37577", - "UPHENO:0041098", - "UPHENO:0076285", - "UPHENO:0002832", - "CHEBI:26079", - "UBERON:0011216", - "HP:0006487", - "UBERON:0004122", - "UPHENO:0077858", - "UBERON:8450002", - "UPHENO:0082536", - "UPHENO:0002642", - "UBERON:0000064", - "UPHENO:0041610", - "UPHENO:0051900", - "UBERON:0000467", - "HP:0011277", - "UBERON:0000174", - "UPHENO:0046348", - "UBERON:0001088", - "UBERON:0015061", - "CHEBI:33241", - "UPHENO:0078550", - "HP:0011849", - "UPHENO:0002442", - "UPHENO:0080658", - "HP:0000119", - "UBERON:0001008", - "UBERON:0005913", - "UPHENO:0051763", - "UPHENO:0002536", - "UBERON:0001434", - "UBERON:0000061", - "UPHENO:0051686", - "CHEBI:24431", - "UPHENO:0082543", - "HP:0001942", - "UBERON:0000468", - "UPHENO:0068346", - "UPHENO:0081550", - "UPHENO:0068091", - "UPHENO:0081546", - "HP:0004360", - "HP:0003076", - "UPHENO:0068190", - "UPHENO:0041573", - "UPHENO:0068169", - "UBERON:0000178", - "UPHENO:0082538", - "CHEBI:36357", - "UPHENO:0084767", - "UBERON:0000465", - "UPHENO:0077821", - "UPHENO:0002964", - "CHEBI:55370", - "UPHENO:0068292", - "UPHENO:0068491", - "UPHENO:0012541", - "UPHENO:0049874", - "UPHENO:0000543", - "UPHENO:0052038", - "HP:0004364", - "UBERON:0006058", - "UPHENO:0051804", - "CHEBI:36963", - "UPHENO:0081424", - "UPHENO:0002332", - "UBERON:0001969", - "UPHENO:0041226", - "CHEBI:33582", - "CHEBI:36360", - "UPHENO:0082875", - "UPHENO:0041536", - "CHEBI:72695", - "HP:0003259", - "UPHENO:0004459", - "CHEBI:24651", - "UPHENO:0068251", - "UBERON:0000026", - "UPHENO:0001003", - "UPHENO:0020584", - "CHEBI:33670", - "CHEBI:24532", - "CHEBI:33675", - "UBERON:0002471", - "UPHENO:0048707", - "CHEBI:25806", - "UPHENO:0076289", - "CHEBI:25693", - "UPHENO:0076740", - "CHEBI:38101", - "CHEBI:78616", - "CHEBI:50860", - "CHEBI:26082", - "UPHENO:0075159", - "CHEBI:23443", - "UPHENO:0076692", - "UPHENO:0051670", - "UPHENO:0068538", - "UPHENO:0068040", - "CHEBI:33661", - "UPHENO:0051894", - "UPHENO:0075952", - "BFO:0000003", - "UPHENO:0079534", - "CHEBI:17234", - "UPHENO:0076286", - "HP:0001507", - "UPHENO:0068064", - "PR:000050567", - "UPHENO:0081547", - "HP:0001941", - "HP:0430071", - "HP:0012072", - "CHEBI:36359", - "CHEBI:25367", - "CHEBI:5686", - "UBERON:0006314", - "UPHENO:0051640", - "UPHENO:0068442", - "UPHENO:0078554", - "CHEBI:33595", - "HP:0012100", - "UPHENO:0082467", - "HP:0012337", - "UBERON:0004120", - "HP:0020129", - "UPHENO:0081548", - "UBERON:0034925", - "UPHENO:0079536", - "CHEBI:37622", - "CHEBI:24833", - "UPHENO:0068049", - "UBERON:0001977", - "CHEBI:33304", - "HP:0012599", - "UPHENO:0001005", - "HP:0001939", - "UBERON:0000463", - "CHEBI:33674", - "UPHENO:0000541", - "UPHENO:0046286", - "HP:0032180", - "HP:0011844", - "UBERON:0010912", - "CHEBI:23367", - "UPHENO:0001001", - "UBERON:0004288", - "UPHENO:0068352", - "CHEBI:36962", - "CHEBI:33608", - "UBERON:0010000", - "CHEBI:33839", - "UPHENO:0068472", - "UPHENO:0075902", - "CHEBI:16737", - "HP:0000001", - "HP:0031980", - "UPHENO:0068110", - "UBERON:0005173", - "CHEBI:32988", - "UBERON:0002529", - "UBERON:0004765", - "UPHENO:0075696", - "UPHENO:0077826", - "UBERON:0002204", - "CHEBI:33285", - "CHEBI:33832", - "HP:0001871", - "UPHENO:0068971", - "CHEBI:51143", - "PATO:0000001", - "UPHENO:0068495", - "HP:0000083", - "HP:0000077", - "UPHENO:0051630", - "BFO:0000004", - "UPHENO:0068144", - "CHEBI:16646", - "CHEBI:33302", - "UBERON:0002100", - "HP:0012591", - "UBERON:0005177", - "UBERON:0004375", - "CHEBI:33579", - "UBERON:0004708", - "CHEBI:33256", - "CHEBI:26020", - "UPHENO:0051847", - "BFO:0000040", - "UBERON:0001062", - "BFO:0000015", - "UPHENO:0082834", - "HP:0001510", - "UBERON:0000062", - "UBERON:0013702", - "UPHENO:0051753", - "HP:0002813", - "GO:0008150", - "UPHENO:0068089", - "HP:0003109", - "UPHENO:0049587", - "UBERON:0002193", - "CHEBI:24995", - "BFO:0000001", - "BFO:0000020", - "HP:0011842", - "UPHENO:0051668", - "HP:0000118", - "UPHENO:0068247", - "HP:0040068", - "GO:0032501", - "GO:0040007", - "HP:0000940", - "UPHENO:0082539", - "UPHENO:0001002" - ], - "has_phenotype_closure_label": [ - "peptide", - "Abnormal urine protein level", - "increased level of protein polypeptide chain in independent continuant", - "Low-molecular-weight proteinuria", - "protein polypeptide chain", - "abnormal independent continuant protein polypeptide chain level", - "abnormal independent continuant carboxylic acid level", - "increased level of organic acid in urine", - "Aminoaciduria", - "organic amino compound", - "oxoacid", - "Organic aciduria", - "carbon oxoacid", - "organic oxo compound", - "decreased height of the anatomical entity", - "decreased size of the multicellular organism", - "abnormal size of anatomical entity", - "Abnormality of body height", - "decreased height of the multicellular organism", - "abnormal upper urinary tract", - "abnormality of kidney physiology", - "Abnormal renal physiology", - "abdominal segment element", - "abnormal kidney", - "subdivision of trunk", - "main body axis", - "subdivision of organism along main body axis", - "kidney", - "trunk region element", - "non-functional kidney", - "non-functional anatomical entity", - "polypeptide", - "aldose", - "increased level of monosaccharide in independent continuant", - "glucose", - "aldohexose", - "Glycosuria", - "abnormal independent continuant glucose level", - "Abnormal urine metabolite level", - "increased level of monosaccharide in urine", - "Abnormal urinary organic compound level", - "abnormal urine glucose level", - "subdivision of organism along appendicular axis", - "hindlimb", - "paired limb/fin skeleton", - "paired limb/fin", - "Abnormality of limbs", - "Abnormal appendicular skeleton morphology", - "macromolecule", - "Bowing of the legs", - "Aciduria", - "zone of organ", - "organism subdivision", - "pelvic appendage", - "limb", - "skeleton", - "Bowing of the long bones", - "curved hindlimb zeugopod", - "endochondral element", - "limb bone", - "organ part", - "Abnormality of the kidney", - "abnormal diaphysis morphology in the independent continuant", - "posterior region of body", - "abnormal limb bone morphology", - "abnormal limb bone", - "increased level of amino acid in urine", - "abnormal anatomical entity morphology in the appendage girdle complex", - "limb skeleton subdivision", - "abdomen", - "curvature anatomical entity", - "pelvic complex", - "Abnormality of the calf", - "hydrogen molecular entity", - "abnormal appendicular skeleton morphology", - "diaphysis", - "increased level of glucose in independent continuant", - "abnormal limb morphology", - "curved anatomical entity in independent continuant", - "abnormal leg", - "zone of long bone", - "appendage girdle complex", - "limb segment", - "endochondral bone", - "subdivision of skeletal system", - "shape long bone", - "lateral structure", - "carboxylic acid", - "Abnormality of limb bone", - "independent continuant", - "curved anatomical entity", - "abnormal hindlimb zeugopod morphology", - "abdomen element", - "Decreased anatomical entity mass density", - "abnormal hindlimb zeugopod", - "abnormal hindlimb zeugopod, curved", - "occurrent", - "abnormal skeletal system morphology", - "heteromonocyclic compound", - "organ", - "appendicular skeleton", - "All", - "abnormal anatomical entity mass density", - "abnormal urine amino acid level", - "Abnormal urine pH", - "bone element", - "long bone", - "Abnormal bone ossification", - "abnormal anatomical entity, curved", - "decreased size of the anatomical entity", - "musculoskeletal system", - "abnormal biological_process", - "abnormal anatomical entity morphology", - "ossification", - "abnormal role independent continuant level", - "subdivision of skeleton", - "increased level of chemical entity in independent continuant", - "skeletal system", - "abnormal skeletal system", - "Abnormality of urine homeostasis", - "Renal insufficiency", - "increased level of chemical entity in urine", - "compound organ", - "Hyperphosphaturia", - "abnormal size of multicellular organism", - "renal system", - "abnormal role urine level", - "carbohydrate", - "homeostatic process", - "Abnormality of the urinary system physiology", - "abnormal urine chemical entity level", - "s-block molecular entity", - "genitourinary system", - "abnormality of anatomical entity height", - "excretory system", - "Abnormal urinary electrolyte concentration", - "multi-limb segment region", - "leg", - "abnormal phosphate level", - "Proteinuria", - "increased level of creatinine in independent continuant", - "phosphorus molecular entity", - "carboxamide", - "increased level of phosphate in independent continuant", - "zone of bone organ", - "Abnormality of bone mineral density", - "zeugopod", - "oxoacid derivative", - "abnormal chemical entity level", - "Reduced bone mineral density", - "p-block molecular entity", - "abnormal hematopoietic system", - "abnormal urine phosphate level", - "organic acid", - "shape hindlimb zeugopod", - "heteroatomic molecular entity", - "abnormality of renal system physiology", - "abnormal acid bodily fluid level", - "Abnormality of acid-base homeostasis", - "Abnormal diaphysis morphology", - "increased level of phosphate in urine", - "increased blood serum role level", - "increased independent continuant acid level", - "appendicular skeletal system", - "increased bodily fluid acid level", - "abnormal amino acid level", - "carbonyl compound", - "trunk", - "multicellular anatomical structure", - "Acidosis", - "haemolymphatic fluid", - "hematopoietic system", - "paired limb/fin segment", - "blood plasma", - "curved long bone", - "skeletal element", - "multicellular organismal process", - "pnictogen molecular entity", - "bodily fluid", - "carbon group molecular entity", - "Abnormality of metabolism/homeostasis", - "Abnormal circulating creatinine concentration", - "Short stature", - "abnormal metabolite independent continuant level", - "Abnormality of the urinary system", - "anatomical structure", - "Abnormality of blood and blood-forming tissues", - "lactam", - "increased level of carboxylic acid in independent continuant", - "mesoderm-derived structure", - "molecule", - "diazolidine", - "increased level of organic molecular entity in independent continuant", - "phosphorus oxoacids and derivatives", - "increased level of chemical entity in bodily fluid", - "abnormality of anatomical entity physiology", - "Rickets", - "increased level of chemical entity in blood plasma", - "abnormal independent continuant amino acid level", - "phenotype", - "abnormal renal system", - "abnormal role bodily fluid level", - "increased level of carboxylic acid in urine", - "urine", - "organism substance", - "increased blood role level", - "Abnormal urine phosphate concentration", - "increased level of chemical entity in blood", - "Decreased bone element mass density", - "abnormal blood plasma chemical entity level", - "excreta", - "abnormal shape of continuant", - "abnormal multicellular organism chemical entity level", - "Phenotypic abnormality", - "metabolic process", - "abnormal anatomical entity morphology in the pelvic complex", - "hindlimb zeugopod", - "organooxygen compound", - "Azotemia", - "abnormal role blood serum level", - "Abnormality of the musculoskeletal system", - "chemical entity", - "cavitated compound organ", - "chalcogen molecular entity", - "increased independent continuant role level", - "anatomical collection", - "oxygen molecular entity", - "shape anatomical entity", - "increased level of nitrogen molecular entity in blood", - "Abnormal circulating metabolite concentration", - "organic molecular entity", - "system", - "increased level of nitrogen molecular entity in independent continuant", - "Abnormal urine carboxylic acid level", - "delayed growth", - "abdominal segment of trunk", - "abnormal limb", - "abnormal blood creatinine level", - "cyclic amide", - "abnormal anatomical entity", - "organonitrogen heterocyclic compound", - "body proper", - "organic heteromonocyclic compound", - "Abnormal long bone morphology", - "creatinine", - "abnormal role blood level", - "phosphoric acid derivative", - "organic molecule", - "increased level of creatinine in blood", - "increased level of organic acid in independent continuant", - "increased level of glucose in urine", - "Abnormal circulating organic compound concentration", - "molecular entity", - "organochalcogen compound", - "nitrogen molecular entity", - "abnormal anatomical entity morphology in the independent continuant", - "organic heterocyclic compound", - "carbohydrates and carbohydrate derivatives", - "bone of appendage girdle complex", - "abnormal diaphysis morphology", - "abnormal independent continuant phosphate level", - "amide", - "protein-containing material entity", - "abnormal genitourinary system", - "main group molecular entity", - "abnormal blood serum chemical entity level", - "heterocyclic compound", - "abnormal blood chemical entity level", - "polyatomic entity", - "Abnormal skeletal morphology", - "limb endochondral element", - "anatomical entity", - "increased level of amino acid in independent continuant", - "increased level of chemical entity", - "organ system subdivision", - "increased level of creatinine in blood serum", - "abnormal independent continuant nitrogen molecular entity level", - "amino acid", - "decreased size of the anatomical entity in the independent continuant", - "abnormal independent continuant carbohydrate level", - "bone of free limb or fin", - "increased level of chemical entity in blood serum", - "appendage", - "material anatomical entity", - "material entity", - "increased bodily fluid role level", - "phosphorus oxoacid derivative", - "biological_process", - "abnormal independent continuant creatinine level", - "Metabolic acidosis", - "skeleton of limb", - "Growth abnormality", - "imidazolidines", - "multicellular organism", - "delayed biological_process", - "Abnormality of the skeletal system", - "Abnormality of the genitourinary system", - "quality", - "process", - "increased level of protein polypeptide chain in urine", - "abnormality of multicellular organism height", - "abnormal independent continuant chemical entity level", - "anatomical system", - "shape anatomical entity in independent continuant", - "abnormal growth", - "imidazolidinone", - "hemolymphoid system", - "Abnormality of limb bone morphology", - "phenotype by ontology source", - "abnormal phenotype by ontology source", - "cyclic compound", - "organic cyclic compound", - "curvature anatomical entity in independent continuant", - "blood serum", - "abnormal bone element mass density", - "specifically dependent continuant", - "abnormal long bone morphology", - "lower limb segment", - "entity", - "organonitrogen compound", - "hydroxides", - "Abnormality of the upper urinary tract", - "growth", - "hexose", - "abnormal hindlimb morphology", - "Abnormal bone structure", - "phosphate", - "increased independent continuant base level", - "upper urinary tract", - "Abnormal homeostasis", - "abnormal acid independent continuant level", - "Elevated circulating creatinine concentration", - "monosaccharide", - "Abnormal circulating nitrogen compound concentration", - "continuant", - "Growth delay", - "abnormal blood nitrogen molecular entity level", - "Abnormality of the lower limb", - "Elevated urinary carboxylic acid", - "monocyclic compound", - "blood", - "primary amide", - "heteroorganic entity" - ], - "has_phenotype_count": 11, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0024525", - "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 1", - "full_name": null, - "deprecated": null, - "description": null, - "xref": ["DOID:0080757", "OMIM:134600"], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": [ - "DeToni-Debré-Fanconi syndrome", - "FRTS1", - "Fanconi renotubular syndrome", - "Fanconi renotubular syndrome 1", - "Fanconi syndrome without cystinosis", - "Luder-Sheldon syndrome", - "adult Fanconi syndrome", - "primary Fanconi renal syndrome", - "primary Fanconi renotubular syndrome", - "renal Fanconi syndrome" - ], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0002749", - "HP:0034359", - "HP:0001324", - "HP:0003155", - "HP:0001942", - "HP:0002148", - "HP:0000124", - "HP:0003109", - "HP:0003648", - "HP:0002900", - "HP:0002748", - "HP:0003076", - "HP:0003355", - "HP:0004322", - "HP:0003126", - "HP:0000083" - ], - "has_phenotype_label": [ - "Osteomalacia", - "Impaired renal tubular reabsorption of phosphate", - "Muscle weakness", - "Elevated circulating alkaline phosphatase concentration", - "Metabolic acidosis", - "Hypophosphatemia", - "Renal tubular dysfunction", - "Hyperphosphaturia", - "Lacticaciduria", - "Hypokalemia", - "Rickets", - "Glycosuria", - "Aminoaciduria", - "Short stature", - "Low-molecular-weight proteinuria", - "Renal insufficiency" - ], - "has_phenotype_closure": [ - "UPHENO:0086132", - "UPHENO:0086128", - "UPHENO:0051801", - "HP:0003126", - "CHEBI:33256", - "CHEBI:37622", - "UPHENO:0068565", - "CHEBI:16670", - "HP:0000093", - "CHEBI:15841", - "CHEBI:16541", - "HP:0000002", - "UPHENO:0015280", - "UPHENO:0075195", - "UPHENO:0080351", - "UPHENO:0020584", - "HP:0004322", - "HP:0001510", - "UPHENO:0081423", - "CHEBI:64709", - "CHEBI:25367", - "HP:0040156", - "CHEBI:35605", - "CHEBI:36586", - "CHEBI:33575", - "UPHENO:0068040", - "CHEBI:33709", - "UPHENO:0051930", - "UPHENO:0082542", - "UPHENO:0012541", - "UPHENO:0049874", - "UPHENO:0000543", - "UPHENO:0068491", - "CHEBI:24651", - "CHEBI:72695", - "CHEBI:24833", - "HP:0003355", - "UPHENO:0051670", - "UPHENO:0068538", - "CHEBI:18133", - "CHEBI:15693", - "UPHENO:0052116", - "CHEBI:33917", - "UPHENO:0051635", - "UPHENO:0078554", - "CHEBI:35381", - "CHEBI:36962", - "CHEBI:25806", - "UPHENO:0080659", - "HP:6000531", - "HP:0033354", - "UPHENO:0068054", - "CHEBI:33521", - "CHEBI:36914", - "CHEBI:33504", - "CHEBI:36916", - "CHEBI:29103", - "UPHENO:0000541", - "CHEBI:33674", - "HP:0020129", - "UPHENO:0081548", - "CHEBI:17234", - "UPHENO:0076286", - "UPHENO:0051958", - "UPHENO:0051898", - "UPHENO:0051645", - "UPHENO:0034199", - "HP:0011042", - "GO:0055080", - "HP:0010929", - "CHEBI:33250", - "CHEBI:26216", - "HP:0002748", - "CHEBI:36915", - "CHEBI:60242", - "CHEBI:25213", - "CHEBI:25414", - "UPHENO:0068511", - "UPHENO:0051640", - "CHEBI:60911", - "UPHENO:0051739", - "UPHENO:0081544", - "HP:0003109", - "UPHENO:0068352", - "UPHENO:0051900", - "CHEBI:33304", - "HP:0012599", - "UBERON:0000174", - "UBERON:0001088", - "UPHENO:0068292", - "CHEBI:33559", - "CHEBI:24870", - "CHEBI:33259", - "UPHENO:0034217", - "HP:0031980", - "UPHENO:0068110", - "HP:0100529", - "CHEBI:33238", - "CHEBI:24867", - "CHEBI:37577", - "UPHENO:0004459", - "GO:0040007", - "UPHENO:0050080", - "UPHENO:0051960", - "CHEBI:26079", - "HP:0002148", - "UPHENO:0034351", - "CHEBI:33608", - "UBERON:0010000", - "GO:0048878", - "UPHENO:0046348", - "UBERON:0000179", - "PR:000000001", - "UBERON:0002390", - "CHEBI:33241", - "UPHENO:0046286", - "UBERON:0001630", - "HP:0032180", - "UPHENO:0080352", - "UPHENO:0051186", - "CHEBI:28358", - "CHEBI:24431", - "UPHENO:0082543", - "UPHENO:0079536", - "UPHENO:0068064", - "UPHENO:0079822", - "UPHENO:0082539", - "UBERON:0000479", - "UBERON:0004120", - "HP:0012337", - "HP:0001942", - "UBERON:0000468", - "UPHENO:0081550", - "HP:0004360", - "UPHENO:0002536", - "UBERON:0001434", - "UPHENO:0051763", - "UPHENO:0068169", - "UBERON:0000178", - "UPHENO:0082538", - "GO:0055062", - "CHEBI:36357", - "UBERON:0000025", - "HP:0001871", - "HP:0010930", - "CHEBI:33285", - "HP:0000924", - "CHEBI:35352", - "UPHENO:0069254", - "CHEBI:36080", - "CHEBI:33839", - "UBERON:0011216", - "HP:0034684", - "CHEBI:33675", - "UPHENO:0068058", - "HP:0004379", - "UPHENO:0068091", - "UPHENO:0081546", - "UBERON:0004211", - "UPHENO:0046362", - "CHEBI:50047", - "CHEBI:78616", - "UPHENO:0034438", - "CHEBI:50860", - "CHEBI:26082", - "BFO:0000002", - "GO:0001503", - "GO:0008152", - "HP:0003155", - "UPHENO:0076289", - "UPHENO:0048707", - "CHEBI:36360", - "CHEBI:33582", - "UPHENO:0051280", - "HP:0000001", - "UPHENO:0075902", - "PR:000003968", - "UPHENO:0068971", - "UPHENO:0034391", - "CHEBI:51143", - "HP:0001992", - "CHEBI:33694", - "UBERON:0002204", - "CHEBI:33695", - "UBERON:0005177", - "CHEBI:33579", - "UPHENO:0051668", - "HP:0003076", - "UBERON:0000383", - "UPHENO:0002320", - "HP:0001324", - "UBERON:0004765", - "PR:000018263", - "UPHENO:0002816", - "HP:0004348", - "UPHENO:0075666", - "HP:0003110", - "HP:0003330", - "UPHENO:0046284", - "HP:0011036", - "HP:0011804", - "UPHENO:0068089", - "UBERON:0015212", - "HP:0003011", - "UPHENO:0081547", - "PR:000050567", - "UBERON:0009569", - "UBERON:0011676", - "UBERON:0001015", - "UBERON:0000463", - "CHEBI:33296", - "UBERON:0004111", - "GO:0042592", - "HP:0000079", - "UPHENO:0051937", - "UPHENO:0080556", - "HP:0002900", - "UBERON:0001231", - "UBERON:8450002", - "UPHENO:0049587", - "UBERON:0001008", - "HP:0000083", - "UPHENO:0068495", - "HP:0000077", - "HP:0000124", - "CHEBI:22314", - "UPHENO:0082835", - "UBERON:0003103", - "CHEBI:24835", - "UPHENO:0002411", - "HP:0012211", - "UBERON:0000467", - "HP:0011277", - "CHEBI:60004", - "UPHENO:0049628", - "CHEBI:23367", - "UBERON:0003914", - "UBERON:0000483", - "GO:0003014", - "GO:0003008", - "HP:0010935", - "UBERON:0004819", - "UPHENO:0082834", - "UPHENO:0002803", - "HP:0001941", - "UBERON:0005090", - "GO:0008150", - "UBERON:0007684", - "UPHENO:0066739", - "BFO:0000020", - "UPHENO:0081777", - "UBERON:0004122", - "UBERON:0000916", - "UBERON:0009773", - "UBERON:0000064", - "UPHENO:0068144", - "CHEBI:16646", - "UPHENO:0079824", - "CHEBI:33302", - "UBERON:0013702", - "CHEBI:33318", - "UBERON:0006314", - "UPHENO:0066943", - "CHEBI:37247", - "UPHENO:0080555", - "UPHENO:0049904", - "CHEBI:26217", - "UBERON:0000489", - "CHEBI:26020", - "UPHENO:0049709", - "UPHENO:0051847", - "BFO:0000040", - "UPHENO:0001003", - "UBERON:0001285", - "HP:0034359", - "UPHENO:0024906", - "UBERON:0000465", - "UPHENO:0082943", - "UPHENO:0051191", - "UPHENO:0002642", - "CHEBI:36963", - "UPHENO:0051804", - "GO:0070293", - "HP:0011038", - "UBERON:0000062", - "BFO:0000003", - "HP:0001939", - "UPHENO:0001005", - "UPHENO:0081424", - "HP:0003648", - "UPHENO:0002332", - "UPHENO:0066927", - "HP:0001507", - "GO:0098771", - "HP:0012072", - "CHEBI:36359", - "HP:0003111", - "CHEBI:23906", - "HP:0012379", - "UPHENO:0001002", - "UPHENO:0075696", - "UPHENO:0077821", - "UPHENO:0002964", - "UPHENO:0052008", - "UBERON:0006555", - "CHEBI:32988", - "UBERON:0005173", - "HP:0002749", - "HP:0004349", - "UPHENO:0084653", - "BFO:0000001", - "UPHENO:0068247", - "GO:0050801", - "GO:0032501", - "HP:0012591", - "UBERON:0002100", - "UBERON:0001062", - "HP:0032943", - "HP:0033127", - "HP:0011849", - "UPHENO:0002442", - "CHEBI:59999", - "UBERON:0002193", - "HP:0011842", - "UBERON:0013701", - "UPHENO:0075159", - "UPHENO:0076692", - "UPHENO:0068094", - "HP:0000118", - "UPHENO:0082875", - "UPHENO:0051686", - "UBERON:0000061", - "UBERON:0005172", - "CHEBI:36587", - "UPHENO:0084654", - "BFO:0000004", - "UPHENO:0080658", - "HP:0000119", - "UBERON:0000475", - "UPHENO:0046283", - "UPHENO:0001001", - "UPHENO:0051709", - "BFO:0000015", - "PR:000064867", - "UPHENO:0034253", - "PATO:0000001", - "UPHENO:0002832", - "UBERON:0002417", - "UPHENO:0076703", - "UBERON:0011143", - "UBERON:0002113", - "UBERON:0001474" - ], - "has_phenotype_closure_label": [ - "peptide", - "Abnormal urine protein level", - "increased level of protein polypeptide chain in independent continuant", - "primary amide", - "amide", - "abnormal independent continuant protein polypeptide chain level", - "abnormal growth", - "Abnormality of body height", - "delayed biological_process", - "delayed growth", - "Abnormal urine carboxylic acid level", - "abnormal independent continuant carboxylic acid level", - "increased level of organic acid in urine", - "Aminoaciduria", - "increased level of nitrogen molecular entity in independent continuant", - "organic molecule", - "carboxylic acid", - "molecule", - "oxoacid", - "decreased height of the anatomical entity", - "organic oxo compound", - "abnormal independent continuant nitrogen molecular entity level", - "carbon oxoacid", - "increased level of amino acid in urine", - "polypeptide", - "aldose", - "decreased size of the anatomical entity in the independent continuant", - "amino acid", - "abnormal independent continuant carbohydrate level", - "increased level of monosaccharide in independent continuant", - "glucose", - "Glycosuria", - "abnormal independent continuant glucose level", - "increased level of organic acid in independent continuant", - "increased level of glucose in urine", - "oxygen molecular entity", - "increased level of monosaccharide in urine", - "increased level of glucose in independent continuant", - "Abnormal urinary organic compound level", - "abnormal urine glucose level", - "abnormal independent continuant potassium atom level", - "decreased size of the multicellular organism", - "alkali metal molecular entity", - "Short stature", - "abnormal metabolite independent continuant level", - "abnormal independent continuant potassium(1+) level", - "Abnormal urine metabolite level", - "atom", - "abnormal blood potassium atom level", - "potassium molecular entity", - "monoatomic cation homeostasis", - "organooxygen compound", - "decreased level of potassium atom in blood", - "potassium atom", - "inorganic cation", - "decreased level of potassium atom in independent continuant", - "increased level of organic molecular entity in independent continuant", - "abnormal potassium atom level", - "hydrogen molecular entity", - "Abnormal blood cation concentration", - "abnormal role blood level", - "inorganic ion", - "Rickets", - "monovalent inorganic cation", - "metal cation", - "monoatomic monocation", - "s-block element atom", - "main group element atom", - "Elevated urinary carboxylic acid", - "Abnormal blood potassium concentration", - "metal atom", - "decreased height of the multicellular organism", - "inorganic molecular entity", - "Low-molecular-weight proteinuria", - "potassium(1+)", - "Abnormal blood monovalent inorganic cation concentration", - "decreased role independent continuant level", - "abnormal monoatomic cation homeostasis", - "Lacticaciduria", - "aldohexose", - "cation", - "chemical substance", - "racemate", - "Aciduria", - "mixture", - "increased level of rac-lactic acid in urine", - "increased level of rac-lactic acid in independent continuant", - "Abnormality of urine homeostasis", - "Renal insufficiency", - "abnormal blood potassium(1+) level", - "increased level of chemical entity in urine", - "excreta", - "Abnormal urine phosphate concentration", - "abnormal urine chemical entity level", - "Abnormal urinary electrolyte concentration", - "carboxamide", - "increased level of phosphate in independent continuant", - "increased level of phosphate in urine", - "haemolymphatic fluid", - "hematopoietic system", - "blood", - "Hypophosphatemia", - "carbohydrate", - "abnormal role urine level", - "homeostatic process", - "protein polypeptide chain", - "Abnormal blood ion concentration", - "increased independent continuant acid level", - "abnormal blood phosphate level", - "abnormal blood chemical entity level", - "alkali metal atom", - "abnormal homeostatic process", - "Proteinuria", - "phosphorus molecular entity", - "decreased role blood level", - "phosphate ion homeostasis", - "alkali metal cation", - "decreased level of phosphate in blood", - "decreased level of chemical entity in blood", - "increased level of protein polypeptide chain in urine", - "abnormality of multicellular organism height", - "anatomical system", - "abnormal independent continuant chemical entity level", - "abnormal blood monoatomic ion level", - "increased level of carboxylic acid in independent continuant", - "mesoderm-derived structure", - "increased level of chemical entity in bodily fluid", - "phosphorus oxoacids and derivatives", - "increased independent continuant role level", - "monoatomic entity", - "epithelium", - "phosphorus oxoacid derivative", - "ion", - "abdomen", - "abnormal phosphate ion homeostasis", - "anatomical structure", - "Abnormality of the urinary system", - "Abnormality of blood and blood-forming tissues", - "phosphoric acid derivative", - "material entity", - "inorganic ion homeostasis", - "monosaccharide", - "Abnormal blood phosphate concentration", - "bodily fluid", - "abnormal multicellular organism chemical entity level", - "abnormal chemical homeostasis", - "abnormal acid independent continuant level", - "Abnormality of acid-base homeostasis", - "abnormal role independent continuant level", - "information biomacromolecule", - "increased bodily fluid role level", - "Abnormality of metabolism/homeostasis", - "carbon group molecular entity", - "increased level of amino acid in independent continuant", - "increased level of chemical entity", - "increased level of protein", - "protein-containing molecular entity", - "molecular entity", - "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", - "abnormal anatomical entity morphology in the independent continuant", - "organochalcogen compound", - "nitrogen molecular entity", - "material anatomical entity", - "Abnormal enzyme concentration or activity", - "Growth abnormality", - "increased level of alkaline phosphatase, tissue-nonspecific isozyme", - "alkaline phosphatase, tissue-nonspecific isozyme", - "decreased level of phosphate in independent continuant", - "biomacromolecule", - "protein", - "heteroorganic entity", - "organonitrogen compound", - "polyatomic entity", - "increased level of carboxylic acid in urine", - "urine", - "organism substance", - "monoatomic ion homeostasis", - "Elevated circulating alkaline phosphatase concentration", - "decreased anatomical entity strength", - "Muscle weakness", - "abnormal monoatomic ion homeostasis", - "muscle structure", - "Hypokalemia", - "hemolymphoid system", - "Abnormality of the musculature", - "abnormality of kidney physiology", - "Abnormal muscle physiology", - "musculature", - "abnormal amino acid level", - "carbonyl compound", - "multicellular anatomical structure", - "trunk", - "Acidosis", - "nephron tubule", - "renal tubule", - "Abnormality of the skeletal system", - "uriniferous tubule", - "abnormal independent continuant monoatomic ion level", - "abnormal acid bodily fluid level", - "nephron epithelium", - "anatomical conduit", - "organic molecular entity", - "nephron", - "epithelial tube", - "Abnormal renal physiology", - "Abnormality of the kidney", - "chalcogen molecular entity", - "cavitated compound organ", - "skeletal system", - "system process", - "increased level of chemical entity in independent continuant", - "abnormal phenotype by ontology source", - "organic acid", - "heteroatomic molecular entity", - "Abnormality of alkaline phosphatase level", - "organ part", - "abnormal kidney", - "oxoacid derivative", - "Abnormal circulating enzyme concentration or activity", - "Abnormality of bone mineral density", - "abdominal segment of trunk", - "elemental molecular entity", - "subdivision of trunk", - "elemental potassium", - "main body axis", - "abdomen element", - "Decreased anatomical entity mass density", - "abnormal musculature", - "rac-lactic acid", - "subdivision of organism along main body axis", - "s-block molecular entity", - "genitourinary system", - "abnormal independent continuant phosphate level", - "protein-containing material entity", - "macromolecule", - "abnormality of anatomical entity physiology", - "kidney epithelium", - "abnormally decreased functionality of the anatomical entity", - "Organic aciduria", - "amino acid chain", - "monoatomic cation", - "renal absorption", - "increased independent continuant base level", - "Abnormal homeostasis", - "upper urinary tract", - "excretory tube", - "main group molecular entity", - "abnormal genitourinary system", - "Phenotypic abnormality", - "metabolic process", - "Renal tubular dysfunction", - "growth", - "hydroxides", - "Abnormality of the upper urinary tract", - "carbohydrates and carbohydrate derivatives", - "muscle organ", - "abnormal anatomical entity mass density", - "All", - "kidney", - "increased bodily fluid acid level", - "abnormality of renal system physiology", - "Hyperphosphaturia", - "compound organ", - "lateral structure", - "Abnormality of renal excretion", - "non-functional anatomical entity", - "abnormality of muscle organ physiology", - "abnormal independent continuant amino acid level", - "phenotype", - "abnormal renal system", - "renal system process", - "chemical entity", - "Abnormality of the musculoskeletal system", - "abnormal size of anatomical entity", - "Impaired renal tubular reabsorption of phosphate", - "tissue", - "phosphate", - "hexose", - "Abnormal bone structure", - "abdominal segment element", - "pnictogen molecular entity", - "multicellular organismal process", - "skeletal element", - "entity", - "Osteomalacia", - "decreased muscle organ strength", - "abnormal renal absorption", - "Growth delay", - "musculature of body", - "occurrent", - "abnormal skeletal system morphology", - "abnormal role bodily fluid level", - "Abnormality of the genitourinary system", - "quality", - "process", - "body proper", - "abnormal urine amino acid level", - "Abnormal urine pH", - "bone element", - "continuant", - "Decreased bone element mass density", - "abnormal anatomical entity morphology", - "abnormal biological_process", - "ossification", - "abnormal upper urinary tract", - "specifically dependent continuant", - "abnormal bone element mass density", - "independent continuant", - "multicellular organism", - "Abnormal bone ossification", - "monoatomic ion", - "decreased level of chemical entity in independent continuant", - "anatomical entity", - "Abnormal skeletal morphology", - "Abnormality of the urinary system physiology", - "abnormal renal system process", - "decreased level of chemical entity", - "trunk region element", - "decreased size of the anatomical entity", - "musculoskeletal system", - "Metabolic acidosis", - "non-functional kidney", - "abnormally decreased functionality of the nephron tubule", - "biological_process", - "organic amino compound", - "abnormal chemical entity level", - "Reduced bone mineral density", - "Abnormal circulating metabolite concentration", - "abnormality of anatomical entity height", - "excretory system", - "abnormal size of multicellular organism", - "renal system", - "abnormal skeletal system", - "phenotype by ontology source", - "abnormal protein level", - "Abnormal renal tubular resorption", - "chemical homeostasis", - "abnormal anatomical entity", - "abnormal urine phosphate level", - "abnormal hematopoietic system", - "p-block molecular entity", - "anatomical entity dysfunction in independent continuant", - "organism subdivision", - "organ", - "organ system subdivision", - "abnormal phosphate level", - "tube" - ], - "has_phenotype_count": 16, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0044325", - "category": "biolink:Disease", - "name": "Fanconi anemia, complementation group W", - "full_name": null, - "deprecated": null, - "description": null, - "xref": ["OMIM:617784", "UMLS:C4521564"], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": ["FANCW", "Fanconi anemia, complementation group W"], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0002247", - "HP:0002863", - "HP:0000252", - "HP:0002984", - "HP:0002119", - "HP:0009777", - "HP:0001510", - "HP:0001511", - "HP:0001748", - "HP:0000824", - "HP:0002518", - "HP:0002308", - "HP:0031689", - "HP:0011800", - "HP:0000089", - "HP:0410049" - ], - "has_phenotype_label": [ - "Duodenal atresia", - "Myelodysplasia", - "Microcephaly", - "Hypoplasia of the radius", - "Ventriculomegaly", - "Absent thumb", - "Growth delay", - "Intrauterine growth retardation", - "Polysplenia", - "Decreased response to growth hormone stimulation test", - "Abnormal periventricular white matter morphology", - "Chiari malformation", - "Megakaryocyte dysplasia", - "Midface retrusion", - "Renal hypoplasia", - "Abnormal radial ray morphology" - ], - "has_phenotype_closure": [ - "UPHENO:0076779", - "HP:0012210", - "UBERON:0004122", - "UPHENO:0002642", - "UPHENO:0002803", - "UPHENO:0075182", - "UBERON:0000489", - "HP:0008678", - "UBERON:0001008", - "UBERON:0001444", - "HP:0000271", - "UPHENO:0081227", - "HP:0000309", - "HP:0025354", - "UPHENO:0086172", - "CL:0001035", - "UBERON:0000479", - "HP:0012143", - "CL:0002092", - "CL:0000763", - "HP:0031689", - "HP:0002438", - "UPHENO:0020013", - "UBERON:0004733", - "UPHENO:0076957", - "UPHENO:0076720", - "UPHENO:0072814", - "UBERON:0002028", - "UBERON:0002037", - "HP:0001317", - "HP:0005561", - "UBERON:0005162", - "HP:0002500", - "UBERON:0001869", - "HP:0002518", - "UPHENO:0074037", - "UPHENO:0021803", - "UPHENO:0073937", - "HP:0010993", - "UBERON:0002437", - "UPHENO:0087902", - "UBERON:0002316", - "HP:0002180", - "UBERON:0003544", - "UPHENO:0059829", - "GO:0023052", - "GO:0032940", - "UPHENO:0086771", - "HP:0000864", - "HP:0000818", - "UPHENO:0004618", - "UPHENO:0082875", - "UBERON:0001894", - "UBERON:0002196", - "UBERON:0000178", - "HP:0011800", - "HP:0011747", - "UPHENO:0075772", - "UPHENO:0081628", - "UBERON:8450002", - "UPHENO:0087940", - "UBERON:0000990", - "UBERON:8600018", - "HP:0031072", - "UPHENO:0087516", - "GO:0065007", - "UPHENO:0081601", - "GO:0051179", - "GO:0009987", - "UPHENO:0005652", - "UBERON:0005156", - "UBERON:0003296", - "UPHENO:0085195", - "CL:0000000", - "GO:0140352", - "GO:0007154", - "HP:0003117", - "UPHENO:0059874", - "UPHENO:0042775", - "UPHENO:0050121", - "HP:0031073", - "UBERON:0000949", - "UPHENO:0087531", - "GO:0042886", - "GO:0046879", - "UBERON:0015204", - "UBERON:0000179", - "GO:0009914", - "GO:0071705", - "GO:0071702", - "GO:0023061", - "GO:0065008", - "GO:0050789", - "UPHENO:0046284", - "UBERON:0002368", - "UPHENO:0076287", - "HP:0032367", - "UPHENO:0080588", - "UPHENO:0003116", - "UBERON:0006314", - "UBERON:0000153", - "UPHENO:0084761", - "UPHENO:0014240", - "UBERON:0004732", - "UPHENO:0063569", - "UPHENO:0075220", - "UPHENO:0000541", - "UPHENO:0087339", - "UPHENO:0076812", - "GO:0030252", - "HP:0100763", - "UBERON:0017672", - "HP:0000119", - 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"HP:0001510", - "HP:0033127", - "UPHENO:0087349", - "UPHENO:0002896", - "HP:0009824", - "HP:0045060", - "UBERON:0000916", - "HP:0002818", - "UBERON:0003460", - "UPHENO:0002833", - "UBERON:0010707", - "UBERON:0004708", - "HP:0005773", - "UPHENO:0020888", - "UPHENO:0046505", - "UBERON:0010740", - "UBERON:0005177", - "UBERON:0002529", - "UBERON:0004765", - "HP:0040064", - "UBERON:0005881", - "UBERON:0010133", - "HP:0009115", - "UBERON:0002100", - "HP:0005927", - "HP:0006496", - "HP:0000089", - "UBERON:0002417", - "HP:0002817", - "UPHENO:0076735", - "UBERON:0010363", - "UPHENO:0076740", - "UBERON:0003466", - "GO:0007267", - "UPHENO:0000543", - "UPHENO:0076718", - "UBERON:0010323", - "UBERON:0002471", - "UBERON:0010741", - "UBERON:0004710", - "UBERON:0008785", - "UBERON:0001440", - "UBERON:0004923", + "UBERON:0005173", + "HP:0002624", "UBERON:0002530", - "UBERON:0008962", - "HP:0025408", - "UBERON:0002465", + "UPHENO:0002844", + "UPHENO:0075995", + "UBERON:0004092", + "UBERON:0000466", + "UBERON:0008785", + "UBERON:0000015", + "UPHENO:0052675", + "HP:0000316", + "UPHENO:0042834", + "UPHENO:0072195", + "HP:0002814", + "UBERON:0006800", + "UPHENO:0049367", + "UPHENO:0052231", + "UPHENO:0081594", "NCBITaxon:1", - "UPHENO:0008523", - "UPHENO:0087006", + "UPHENO:0021474", + "UPHENO:0087597", + "UBERON:0002114", + "UPHENO:0076748", + "UBERON:0012152", + "UPHENO:0078375", + "UBERON:0010696", + "NBO:0000444", + "UPHENO:0081344", + "UBERON:0000063", + "HP:0008056", + "UBERON:0007273", + "HP:0002270", + "UBERON:0015022", + "UPHENO:0086866", + "UBERON:0001445", + "HP:0011297", + "UBERON:0004248", + "GO:0043473", + "UBERON:0012142", + "UBERON:0010758", + "UBERON:0001890", + "UPHENO:0081091", + "HP:0010674", + "HP:0001217", + "UPHENO:0078125", + "UPHENO:0087369", + "UPHENO:0082444", + "HP:0001639", + "UPHENO:0002896", + "UPHENO:0076806", + "HP:0040072", + "UBERON:0004053", + "UBERON:0001441", + "UBERON:0015023", + "UPHENO:0081575", + "UBERON:0001711", + "UBERON:0003221", 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"HP:0000079", - "RO:0002577", - "UBERON:0000955", - "UBERON:0004121", - "UBERON:0001890", - "UPHENO:0081547", - "HP:0000152", - "UBERON:0007811", - "UBERON:0006558", - "UBERON:0019261", - "UBERON:0013702", - "UPHENO:0080220", - "UPHENO:0077887", - "UPHENO:0002910", - "HP:0002011", - "HP:0009121", - "UBERON:0004086", - "UPHENO:0002764", - "UPHENO:0011498", - "UPHENO:0076286", - "HP:0011844", - "UBERON:0010912", - "UPHENO:0049724", - "UPHENO:0080200", - "UPHENO:0075195", + "UBERON:0002199", + "UBERON:0002137", + "UBERON:0011143", + "UBERON:0007842", "UBERON:0002113", - "UBERON:0015021", - "HP:0002589", - "UPHENO:0080099", - "HP:0002308", - "UPHENO:0086621", - "UPHENO:0087089", - "UBERON:0004288", - "UPHENO:0002832", - "UPHENO:0051668", - "UBERON:0001009", - "UPHENO:0081451", - "HP:0000924", - "HP:0012443", - "HP:0012639", - "UBERON:0005409", - "UPHENO:0008668", + "HP:0001199", + "UPHENO:0000996", + "UBERON:0005881", + "UPHENO:0076779", + "UBERON:0001846", + "UBERON:0002217", + 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"UBERON:0002616", - "UBERON:0002114", - "UPHENO:0076791", - "UBERON:0001893", - "UPHENO:0002751", - "UBERON:0002101", - "HP:0001743", - "UPHENO:0080393", - "UBERON:0019231", - "UBERON:0011249", - "UPHENO:0051763", - "UPHENO:0002536", - "UBERON:0001434", + "UPHENO:0078736", + "HP:0031105", + "UBERON:0002416", + "HP:0008053", "UPHENO:0022529", - "UPHENO:0002678", - "UBERON:0034925", - "UBERON:0001456", - "GO:0030072", - "UBERON:0004921", - "UPHENO:0071309", - "UPHENO:0002808", - "HP:0025461", - "UPHENO:0083951", - "UPHENO:0004523", - "UPHENO:0087355", + "UPHENO:0054957", + "UPHENO:0084511", + "UPHENO:0066927", + "UBERON:0010000", + "UBERON:0010230", + "HP:0011121", + "UPHENO:0080601", + "UPHENO:0086172", + "UPHENO:0074589", + "CL:0000225", + "UPHENO:0054970", + "UPHENO:0049940", + "UPHENO:0084761", + "UBERON:0002384", + "UBERON:0012141", + "CL:0000151", + "HP:0001510", + "HP:0001167", + "UPHENO:0085302", + "UPHENO:0080114", + "UPHENO:0084766", + "UPHENO:0080201", + "UBERON:0003101", + "HP:0001155", + "HP:0045060", + "HP:0008373", + "HP:0005927", + "UPHENO:0085371", + "UPHENO:0076723", + "UPHENO:0084653", + "UBERON:0005451", + "HP:0005922", + "UPHENO:0082671", + "UPHENO:0078179", + "HP:0011849", + "HP:0010469", + "UBERON:0008202", + "UPHENO:0082834", + "HP:0004209", + "UPHENO:0087203", + "UPHENO:0082835", + "UBERON:0002412", + "GO:0001503", + "HP:0011446", + "HP:0030084", + "HP:0000377", + "HP:0004097", + "UBERON:0012357", + "UPHENO:0084842", + "HP:0009824", + "UPHENO:0080369", + "UPHENO:0084829", + "HP:0000864", + "UPHENO:0086150", + "UPHENO:0076736", + "HP:0009179", + "UBERON:5003625", + "UBERON:0012180", + "UPHENO:0068971", + "UPHENO:0081790", + "HP:0200007", + "HP:0009821", + "UPHENO:0012274", + "UPHENO:0012541", + "UPHENO:0053580", + "HP:0040019", + "UPHENO:0069293", + "UBERON:0010425", + "UBERON:0007823", + "UPHENO:0001001", + "UPHENO:0087892", + "UPHENO:0060026", + "HP:0001367", + "HP:0000504", + "UPHENO:0002813", + "UPHENO:0087980", + "UBERON:0001457", + "UBERON:0008907", + "UPHENO:0079871", + "NBO:0000313", + "HP:0002827", + "UBERON:0000982", + "UBERON:0005913", + "UBERON:0001271", + "UBERON:0003828", + "UPHENO:0075945", + "UBERON:0003463", + "UPHENO:0086088", + "HP:0001903", + "UPHENO:0076767", + "UBERON:0001464", + "UBERON:0008114", + "UBERON:0007828", + "UBERON:0003840", + "UPHENO:0087974", + "UBERON:0004770", + "HP:0002644", + "UBERON:5002389", + "UPHENO:0087558", + "HP:0000271", + "UBERON:0005893", + "UBERON:0001712", + "UBERON:0001950", + "UBERON:0003826", + "UBERON:0016526", + "UPHENO:0010795", + "UBERON:0001805", + "HP:0002251", + "UBERON:0004121", + "HP:0000525", + "UPHENO:0088183", + "UPHENO:0020258", + "UPHENO:0087121", + "UBERON:0002410" + ], + "has_phenotype_closure_label": [ + "decreased biological_process in multicellular organism", + "decreased qualitatively pigmentation in independent continuant", + "Hypopigmentation of the skin", + "decreased qualitatively biological_process in independent continuant", + "decreased biological_process in skin of body", + "decreased biological_process in independent continuant", + "Thrombocytopenia", + "Abnormal platelet count", + "abnormally decreased number of platelet", + "abnormally decreased number of myeloid cell", + "abnormal blood cell", + "abnormal platelet", + "anucleate cell", + "secretory cell", + "obsolete cell", + "Abnormality of chromosome stability", + "Abnormal cellular physiology", + "decreased size of the multicellular organism", + "Abnormality of body height", + "serotonin secreting cell", + "abnormal size of multicellular organism", + "erythrocyte differentiation", + "myeloid cell differentiation", + "hemopoiesis", + "cellular developmental process", + "abnormal erythroid lineage cell morphology", + "erythroid lineage cell", + "Sideroblastic anemia", + "Abnormal myeloid cell morphology", + "immune system process", + "cellular process", + "homeostatic process", + "abnormal myeloid cell morphology", + "erythrocyte", + "myeloid cell", + "blood cell", + "abnormal erythrocyte morphology", + "Pyridoxine-responsive sideroblastic anemia", + "erythrocyte homeostasis", + "homeostasis of number of cells", + "oxygen accumulating cell", + "Anemia of inadequate production", + "radius bone", + "Abnormal morphology of the radius", + "aplasia or hypoplasia of radius bone", + "abnormal radius bone morphology", + "Neurodevelopmental delay", + "abnormal size of palpebral fissure", + "decreased length of palpebral fissure", + "Abnormal size of the palpebral fissures", + "Abnormality of immune system physiology", + "abnormality of immune system physiology", + "abnormally localised testis", + "abnormally localised anatomical entity in independent continuant", + "Cryptorchidism", + "ureter", + "Abnormal ureter morphology", + "Abnormality of the ureter", + "abnormal ureter morphology", + "Abnormal renal physiology", + "Hypopigmented skin patches", + "Abnormality of the urinary system physiology", + "abnormally decreased functionality of the gonad", + "Cleft palate", + "Craniofacial cleft", + "increased height of the anatomical entity", + "increased height of anatomical entity in independent continuant", + "High palate", + "Increased head circumference", + "increased size of the head", + "increased length of the epicanthal fold", + "upper eyelid", + "zone of skin", + "Epicanthus", + "skin of head", + "head or neck skin", + "abnormal skin of face morphology", + "skin of face", + "abnormal asymmetry of anatomical entity", + "abnormal shape of forehead", + "sloped anatomical entity", + "abnormal facial skeleton morphology", + "Hypoplastic facial bones", + "facial skeleton", + "facial bone", + "mandible", + "anatomical entity hypoplasia in face", + "bone of lower jaw", + "mandible hypoplasia", + "abnormal mandible morphology", + "Abnormal mandible morphology", + "lower jaw region", + "facial bone hypoplasia", + "decreased size of the mandible", + "bone element hypoplasia in face", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "decreased qualitatively sensory perception of mechanical stimulus", + "sloped forehead", + "sensory perception of mechanical stimulus", + "decreased sensory perception of sound", + "abnormal sensory perception of sound", + "Hearing abnormality", + "sensory perception of sound", + "decreased qualitatively sensory perception of sound", + "Abnormal conjugate eye movement", + "Strabismus", + "sensory perception of light stimulus", + "abnormal sensory perception of light stimulus", + "abnormal sensory perception", + "decreased qualitatively visual perception", + "visual perception", + "abnormally protruding eyeball of camera-type eye", + "cell development", + "abnormal size of eyeball of camera-type eye", + "Abnormality of globe size", + "Abnormality of eye movement", + "cranial nerve related reflex", + "Abnormal vestibulo-ocular reflex", + "Abnormal vestibular function", + "abnormality of ear physiology", + "abnormal eye movement", + "abnormal physiologic nystagmus", + "eye movement", + "abnormal vestibulo-ocular reflex", + "shape uterus", + "abnormal uterus", + "female organism", + "internal female genitalia", + "abnormal internal female genitalia morphology", + "Abnormality of the female genitalia", + "Aplasia/Hypoplasia of facial bones", + "bicornuate uterus", + "abnormal female reproductive system", + "oviduct", + "bicornuate anatomical entity", + "uterus", + "Abnormality of the uterus", + "abnormal anatomical entity morphology in the skeleton of manus", + "Abnormality of thumb phalanx", + "manual digitopodium bone", + "manual digit 1 phalanx", + "digit 1", + "Abnormal finger phalanx morphology", + "manus bone", + "excretory tube", + "manual digit 1 phalanx endochondral element", + "abnormal incomplete closing of the secondary palate", + "phalanx of manus", + "manual digit 1 digitopodial skeleton", + "abnormal visual perception", + "abnormal phalanx of manus morphology", + "abnormal manual digit 1 morphology", + "Triphalangeal thumb", + "manual digit 1", + "abnormal female reproductive system morphology", + "digit 1 digitopodial skeleton", + "skeleton of manual acropodium", + "skeleton of manual digitopodium", + "Bicornuate uterus", + "abnormal behavior", + "body part movement", + "neuromuscular process", + "voluntary musculoskeletal movement", + "kinesthetic behavior", + "increased qualitatively response to stimulus", + "abnormal voluntary musculoskeletal movement", + "Hyperreflexia", + "reflex", + "Abnormality of movement", + "Recurrent urinary tract infections", + "involuntary movement behavior", + "multicellular organismal movement", + "abnormal response to external stimulus", + "decreased embryo development", + "abnormal embryo development", + "Abnormal umbilicus morphology", + "Hernia", + "Hernia of the abdominal wall", + "Abnormality of connective tissue", + "abnormal umbilicus morphology", + "abnormal incomplete closing of the abdominal wall", + "Abnormality of the abdominal wall", + "umbilicus", + "connective tissue", + "herniated anatomical entity", + "herniated abdominal wall", + "response to external stimulus", + "Abnormality of the amniotic fluid", + "abnormal amniotic fluid", + "Abnormality of prenatal development or birth", + "Renal insufficiency", + "late embryo", + "Oligohydramnios", + "amniotic fluid", + "interatrial septum", + "abnormal cardiac atrium morphology in the independent continuant", + "Abnormal atrial septum morphology", + "abnormal cardiac atrium morphology", + "abnormal interatrial septum morphology", + "Abnormal ventricular septum morphology", + "metabolic process", + "Abnormal cardiac septum morphology", + "increased size of the heart right ventricle", + "interventricular septum", + "abnormal hematopoietic cell morphology", + "Abnormal connection of the cardiac segments", + "abnormally increased volume of anatomical entity", + "Ventricular hypertrophy", + "abnormal pulmonary valve morphology", + "Global developmental delay", + "reflexive behavior", + "Right ventricular hypertrophy", + "cardiac septum", + "Abnormal pulmonary valve physiology", + "abnormality of cardiovascular system physiology", + "skin of eyelid", + "Aplasia/Hypoplasia of the mandible", + "abnormal size of heart right ventricle", + "abnormal cardiac septum morphology", + "hypertrophic cardiac ventricle", + "hypertrophic heart right ventricle", + "Abnormal myocardium morphology", + "layer of muscle tissue", + "abnormal myocardium morphology", + "heart layer", + "abnormal abdominal wall", + "embryonic cardiovascular system", + "heart vasculature", + "response to stimulus", + "ductus arteriosus", + "abnormal coronary vessel morphology", + "abnormal number of anatomical enitites of type myeloid cell", + "thoracic segment blood vessel", + "coronary vessel", + "Patent ductus arteriosus", + "decreased pigmentation in multicellular organism", + "Congenital malformation of the great arteries", + "aplasia or hypoplasia of mandible", + "trunk blood vessel", + "abnormal incomplete closing of the ductus arteriosus", + "vasculature of organ", + "abnormal female reproductive organ morphology", + "abnormally decreased functionality of the anatomical entity", + "vasculature of trunk", + "heart blood vessel", + "bone of jaw", + "aortic system", + "aorta", + "great vessel of heart", + "Abnormal aortic morphology", + "flattened anatomical entity", + "longitudinal arch of pes", + "flattened anatomical entity in independent continuant", + "shape longitudinal arch of pes", + "Pes planus", + "flat anatomical entity", + "abnormally fused anatomical entity and pedal digit", + "Toe syndactyly", + "manual digit 1 plus metapodial segment", + "abnormal cerebral hemisphere morphology", + "neurocranium bone", + "vault of skull", + "female reproductive system", + "dermal skeleton", + "primary subdivision of skull", + "primary subdivision of cranial skeletal system", + "gray matter", + "dermal bone", + "aplasia or hypoplasia of skull", + "frontal lobe", + "pallium", + "neurocranium", + "cranial bone", + "bone of craniocervical region", + "intramembranous bone", + "membrane bone", + "Hearing impairment", + "abnormal neurocranium morphology", + "abnormal head bone morphology", + "abnormal shape of frontal cortex", + "abnormality of internal ear physiology", + "abnormal tetrapod frontal bone morphology", + "abnormal vault of skull", + "Puberty and gonadal disorders", + "central nervous system cell part cluster", + "lobe of cerebral hemisphere", + "cerebral hemisphere", + "forehead", + "abnormal great vessel of heart morphology", + "frontal cortex", + "abnormal response to stimulus", + "embryo development ending in birth or egg hatching", + "Abnormal form of the vertebral bodies", + "outflow part of left ventricle", + "vertebral column", + "vertebra", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "Abnormal heart valve morphology", + "abnormal neural tube morphology", + "anatomical structure formation involved in morphogenesis", + "abnormal aortic valve morphology", + "tube formation", + "neural tube", + "presumptive structure", + "Abnormality of the inner ear", + "abnormal vertebral column morphology", + "face", + "aplasia or hypoplasia of manual digit", + "Abnormality of the vasculature", + "non-functional anatomical entity", + "Abnormal vertebral morphology", + "Vertebral arch anomaly", + "epithelium development", + "abnormal head", + "arterial system", + "Decreased bone element mass density", + "abnormal systemic arterial system morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal common carotid artery plus branches morphology", + "jaw region", + "artery", + "abnormal anatomical entity mass density", + "Spinal dysraphism", + "decreased qualitatively pigmentation", + "decreased multicellular organism mass", + "innominate bone", + "gray matter of forebrain", + "heart plus pericardium", + "Pulmonic stenosis", + "Abnormal peripheral nervous system morphology", + "Atypical behavior", + "Abnormal upper limb bone morphology", + "chemosensory system", + "abnormally decreased number of anatomical entity", + "Abnormality of the orbital region", + "roof of mouth", + "paralysed cranial nerve", + "Abnormal cranial nerve physiology", + "male germ cell", + "Aplasia/Hypoplasia of the uvula", + "Ocular anterior segment dysgenesis", + "decreased height of the multicellular organism", + "abnormal anatomical entity morphology in the pelvic complex", + "abnormal neocortex morphology", + "decreased biological_process", + "Eukaryota", + "Eumetazoa", + "Aplasia/Hypoplasia affecting the uvea", + "anterior uvea", + "vestibulo-auditory system", + "Abnormal right ventricle morphology", + "Clinodactyly", + "cranial neuron projection bundle", + "Abdominal wall defect", + "Almond-shaped palpebral fissure", + "Clubbing", + "head bone", + "shape digit", + "multi-tissue structure", + "bodily fluid", + "abnormal peripheral nervous system morphology", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "appendage girdle complex", + "subdivision of head", + "Abnormal calvaria morphology", + "abnormal skeletal system", + "Abnormal morphology of ulna", + "Aplasia/Hypoplasia of the iris", + "mouth", + "spinal cord", + "appendicular skeleton", + "limb skeleton subdivision", + "Abnormal cell morphology", + "Abnormal palate morphology", + "forelimb long bone", + "abnormal size of skull", + "limb segment", + "abnormally formed anatomical entity", + "absent sperm", + "skeletal system", + "curved anatomical entity in independent continuant", + "hindlimb skeleton", + "endochondral bone", + "subdivision of skeleton", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "Abnormality of the skeletal system", + "Overriding aorta", + "trachea", + "Deviation of finger", + "Abnormality of limbs", + "Abnormal platelet morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "ulna endochondral element", + "abnormal shape of cornea", + "abnormal forebrain morphology", + "abnormal limb long bone morphology", + "eukaryotic cell", + "abnormal zone of skin morphology", + "pedal digitopodium bone", + "neural tube formation", + "anatomical conduit", + "abnormally formed anterior chamber of eyeball", + "Anal atresia", + "postcranial axial skeletal system", + "Clubbing of toes", + "Abnormal uvea morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal forelimb zeugopod morphology", + "zeugopod", + "skeletal element", + "paired limb/fin", + "abnormal semi-lunar valve morphology", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "bone element", + "pectoral appendage", + "deviation of manual digit 5 towards the middle", + "abnormal digestive system morphology", + "septum", + "Abnormality of limb bone morphology", + "Abnormal forearm bone morphology", + "root", + "Abnormal forebrain morphology", + "developing anatomical structure", + "skeleton of limb", + "forelimb zeugopod skeleton", + "prepuce", + "subdivision of oviduct", + "limb bone", + "pectoral appendage skeleton", + "Abnormal blood vessel morphology", + "cardiovascular system", + "blood vasculature", + "tube development", + "acropodium region", + "blood vessel", + "germ cell", + "outflow tract", + "Umbilical hernia", + "Arteriovenous malformation", + "abnormal connective tissue", + "Abnormal eye morphology", + "Abnormal long bone morphology", + "absent sperm in the semen", + "vasculature", + "embryonic morphogenesis", + "abnormal liver", + "decreased pigmentation in independent continuant", + "tissue development", + "venous blood vessel", + "abnormal vasculature", + "abnormal genitourinary system", + "abnormal musculoskeletal movement", + "changed developmental process rate", + "abnormal cardiovascular system", + "Abnormal reproductive system morphology", + "abnormal blood vessel morphology", + "abnormal parasympathetic nervous system morphology", + "abnormal embryo morphology", + "Abnormal venous morphology", + "Aplasia/Hypoplasia affecting the eye", + "Functional abnormality of male internal genitalia", + "vein", + "multi cell part structure", + "abnormal prepuce of penis morphology", + "myocardium", + "external ear", + "abnormal telencephalon morphology", + "Abnormality of the forehead", + "intromittent organ", + "organism", + "secondary palate", + "penis", + "Orofacial cleft", + "digestive system element", + "autopod bone", + "Neurodevelopmental abnormality", + "manual digit phalanx endochondral element", + "Abnormality of the immune system", + "abnormal skin of head morphology", + "abnormal neural tube closure", + "abnormal cardiovascular system morphology", + "Abnormality of mental function", + "nervous system process", + "Abnormal toe phalanx morphology", + "arch of centrum of vertebra", + "Metazoa", + "abnormal parasympathetic ganglion morphology", + "abnormality of internal male genitalia physiology", + "decreased length of forelimb zeugopod bone", + "limb endochondral element", + "abnormal brain ventricle/choroid plexus morphology", + "Abnormal cerebral ventricle morphology", + "structure with developmental contribution from neural crest", + "abnormal nervous system morphology", + "abnormal central nervous system morphology", + "Abnormal preputium morphology", + "Neural tube defect", + "organ system subdivision", + "Aplasia/Hypoplasia involving bones of the skull", + "tissue morphogenesis", + "abnormal brain ventricle morphology", + "skeletal joint", + "Abnormal cardiovascular system physiology", + "Abnormal cerebrospinal fluid morphology", + "forelimb bone", + "Abnormal uvula morphology", + "abnormally increased number of anatomical entity", + "ventricular system of central nervous system", + "Abnormal shape of the frontal region", + "central nervous system", + "abnormal arm", + "Abnormality of limb bone", + "autopod endochondral element", + "cognition", + "ventricular system of brain", + "shape anatomical entity", + "anatomical entity hypoplasia in independent continuant", + "Facial asymmetry", + "Abnormal leukocyte count", + "anatomical entity dysfunction in independent continuant", + "abnormal brain morphology", + "abnormal heart layer morphology", + "Abnormal frontal bone morphology", + "Abnormality of lower limb joint", + "Recurrent infections", + "Morphological central nervous system abnormality", + "organ component layer", + "Hydrocephalus", + "forelimb zeugopod bone", + "abnormal anus morphology", + "abnormally increased number of brain ventricle in the independent continuant", + "cerebrospinal fluid", + "abnormal nervous system", + "abnormally fused pedal digit and pedal digit", + "future central nervous system", + "nervous system development", + "abnormal manual digit morphology in the manus", + "material anatomical entity", + "abnormal internal naris", + "Cranial nerve paralysis", + "developmental process", + "abnormal ureter", + "absent anatomical entity in the independent continuant", + "manual digit 1 or 5", + "abdominal segment bone", + "abnormal forelimb morphology", + "abnormal autonomic nervous system", + "abnormal cornea, asymmetrically curved", + "Abnormal cellular immune system morphology", + "Abnormality of male external genitalia", + "abnormal forehead", + "abnormal voluntary movement behavior", + "tissue", + "abnormal behavior process", + "abnormal axial skeleton plus cranial skeleton morphology", + "absent anatomical entity in the semen", + "subdivision of organism along appendicular axis", + "Abnormal male reproductive system physiology", + "abnormal cerebrospinal fluid morphology", + "zeugopodial skeleton", + "Small intestinal stenosis", + "male gamete generation", + "sexual reproduction", + "abnormal synovial joint of pelvic girdle morphology", + "embryo", + "Absent testis", + "exocrine system", + "Abnormality of the genitourinary system", + "Abnormality of the outer ear", + "abnormal gamete", + "quality", + "phenotype by ontology source", + "Abnormality of the male genitalia", + "Abnormality of blood and blood-forming tissues", + "abnormality of multicellular organism height", + "abnormal limb morphology", + "upper urinary tract", + "right cardiac chamber", + "manual digitopodium region", + "abnormal enteric nervous system morphology", + "anterior region of body", + "Abnormality of the upper limb", + "entity", + "Decreased anatomical entity mass", + "anatomical system", + "upper digestive tract", + "dorsum", + "cranial nerve", + "testis", + "reproductive structure", + "abnormal ulna morphology", + "gonad", + "Decreased anatomical entity mass density", + "ganglion", + "abnormal shape of external ear", + "opaque lens of camera-type eye", + "epithelial tube", + "Finger clinodactyly", + "iris", + "absent gamete", + "naris", + "mesoderm-derived structure", + "abnormal male reproductive system morphology", + "Abnormality of the gastrointestinal tract", + "internal male genitalia", + "digestive system", + "curved anatomical entity", + "decreased length of long bone", + "material entity", + "increased reflex", + "long bone", + "system development", + "abnormal multicellular organismal reproductive process", + "abnormal anatomical entity, asymmetrically curved", + "manual digit", + "abnormal reproductive process", + "abnormal shape of continuant", + "system process", + "male gamete", + "cell differentiation", + "abnormal cerebral cortex morphology", + "abnormal arch of centrum of vertebra", + "bone of appendage girdle complex", + "anatomical wall", + "abnormality of anatomical entity height", + "abnormal heart right ventricle morphology", + "neural crest-derived structure", + "epithelial tube formation", + "asymmetrically curved cornea", + "hindlimb", + "continuant", + "Intrauterine growth retardation", + "abnormal cornea morphology", + "entire sense organ system", + "lower urinary tract", + "Abnormality of globe location", + "Tracheoesophageal fistula", + "Abnormal cardiac atrium morphology", + "Neoplasm", + "Abnormal intestine morphology", + "organ", + "pedal digit plus metapodial segment", + "occurrent", + "abnormal male reproductive organ morphology", + "pedal digit phalanx endochondral element", + "integumental system", + "semen", + "abnormality of anatomical entity physiology", + "multicellular organismal reproductive process", + "Abnormality of the head", + "heart", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "sensory system", + "absent sperm in the independent continuant", + "pelvic region element", + "abnormal systemic artery morphology", + "male organism", + "abnormal hindlimb joint", + "reproduction", + "vessel", + "lateral structure", + "Microphthalmia", + "absent anatomical entity in the multicellular organism", + "Abnormal nasal morphology", + "postcranial axial skeleton", + "abnormal vein morphology", + "abnormal external ear morphology", + "decreased qualitatively developmental process", + "camera-type eye", + "All", + "Abnormal bone structure", + "male reproductive organ", + "abnormal blood cell morphology", + "abnormal cell", + "disconnected anatomical group", + "upper limb segment", + "biological_process", + "Aplasia/Hypoplasia affecting the anterior segment of the eye", + "Abnormality of the genital system", + "Abnormal facial shape", + "tube morphogenesis", + "leukocyte", + "delayed biological_process", + "systemic artery", + "organism substance", + "Abnormal heart valve physiology", + "changed biological_process rate", + "absent germ cell", + "Abnormal erythroid lineage cell morphology", + "abnormal peripheral nervous system", + "ear", + "transudate", + "Abnormal joint morphology", + "forelimb endochondral element", + "abnormal duodenum morphology", + "abnormal leukocyte morphology", + "Abnormal respiratory system physiology", + "multicellular organismal process", + "bone of pelvic complex", + "organ part", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormal hip joint morphology", + "neuron projection bundle", + "Abnormal spinal cord morphology", + "external male genitalia", + "abnormality of cranial nerve physiology", + "abnormal pigmentation", + "independent continuant", + "anatomical line between pupils", + "abnormal number of anatomical enitites of type anatomical entity", + "forelimb skeleton", + "immune system", + "endocrine system", + "decreased qualitatively reproductive process", + "gamete generation", + "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Abnormal ganglion morphology", + "hepatobiliary system", + "subdivision of skeletal system", + "Abnormal external genitalia", + "pulmonary valve", + "cellular organisms", + "vertebral element", + "viscus", + "bone of free limb or fin", + "abnormal pedal digit morphology", + "abnormal ear", + "Abnormality of reproductive system physiology", + "abnormal size of head", + "abnormal external genitalia", + "radius endochondral element", + "Abnormal renal morphology", + "abnormal gamete generation", + "Abnormality of the curvature of the cornea", + "cell", + "abnormal interventricular septum morphology", + "Abnormality of the mouth", + "abnormal ductus arteriosus morphology", + "Finger syndactyly", + "limb", + "respiratory system", + "hip joint", + "abnormal ear morphology", + "abnormal number of anatomical enitites of type sperm", + "Abnormality of the cardiovascular system", + "dorsal region element", + "abnormal opening of the anatomical entity", + "Abnormal systemic arterial morphology", + "multicellular anatomical structure", + "hematopoietic system", + "spermatogenesis", + "abnormal shape of palpebral fissure", + "abnormal cardiac atrium morphology in the heart", + "morphogenesis of embryonic epithelium", + "haploid cell", + "conceptus", + "abnormal vertebra morphology", + "internal genitalia", + "aplasia or hypoplasia of iris", + "Abnormality of skin pigmentation", + "abnormality of respiratory system physiology", + "prepuce of penis", + "concave 3-D shape anatomical entity", + "abnormal heart left ventricle morphology", + "leg bone", + "abnormal tracheobronchial tree morphology", + "abnormal external male genitalia", + "abnormal anatomical entity morphology in the brain", + "Abnormal ear morphology", + "abnormal craniocervical region", + "manual digit digitopodial skeleton", + "flat anatomical entity in independent continuant", + "cardiac ventricle", + "abnormal internal genitalia", + "ocular surface region", + "platelet", + "Growth abnormality", + "hip", + "primary neural tube formation", + "renal pelvis/ureter", + "male urethral meatus", + "reproductive organ", + "anus atresia", + "abnormal skull morphology", + "Short long bone", + "abnormality of nervous system physiology", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "abnormal aorta morphology", + "increased pigmentation in skin of body", + "Abnormality of the testis size", + "hip dislocation", + "Abnormal cellular phenotype", + "neural tube development", + "external genitalia", + "Hypertrophic cardiomyopathy", + "abnormal number of anatomical enitites of type cell", + "abnormal limb bone morphology", + "tunica fibrosa of eyeball", + "Abnormal appendicular skeleton morphology", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormality of the urinary system", + "abnormality of reproductive system physiology", + "abnormally localised anatomical entity", + "abnormal anatomical entity morphology in the skeleton of pelvic complex", + "Abnormal heart morphology", + "Proptosis", + "changed embryo development rate", + "hindlimb stylopod", + "Abnormal esophagus morphology", + "Anemia", + "morphological feature", + "Abnormality of metabolism/homeostasis", + "forelimb zeugopod", + "abnormal testis morphology", + "reproductive process", + "abnormally formed anatomical entity in independent continuant", + "body proper", + "abnormal respiratory tube morphology", + "Abnormal morphology of female internal genitalia", + "anatomical cluster", + "blood", + "phenotype", + "abnormal pigmentation in independent continuant", + "Abnormal involuntary eye movements", + "Abnormal tracheal morphology", + "process", + "subdivision of organism along main body axis", + "prominent forehead", + "abnormal incomplete closing of the arch of centrum of vertebra", + "segment of manus", + "Abnormality of the nose", + "developmental process involved in reproduction", + "Abnormal anterior chamber morphology", + "abnormal innominate bone morphology", + "aplasia or hypoplasia of anatomical entity", + "limb long bone", + "compound organ", + "eye", + "abnormal synovial joint morphology", + "reproductive system", + "multi-limb segment region", + "ventricle of nervous system", + "paralysed anatomical entity", + "pelvic appendage", + "abnormal eyeball of camera-type eye", + "abnormal anterior uvea morphology", + "decreased size of the eyeball of camera-type eye", + "absent anatomical entity", + "cerebral cortex", + "tracheobronchial tree", + "malformed anatomical entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "Abnormality of the peripheral nervous system", + "trunk region element", + "skeleton of pectoral complex", + "specifically dependent continuant", + "abnormal autonomic nervous system morphology", + "ganglion of peripheral nervous system", + "Abnormal reflex", + "hindlimb joint", + "abnormal anatomical entity morphology", + "abnormally decreased number of anatomical entity in the independent continuant", + "Short palpebral fissure", + "Abnormal skeletal morphology", + "increased pigmentation", + "decreased spermatogenesis", + "anatomical structure development", + "arterial blood vessel", + "abnormal bone element mass density", + "main body axis", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Sloping forehead", + "abnormal manual digit 5 morphology", + "non-connected functional system", + "external soft tissue zone", + "digit plus metapodial segment", + "head", + "Dolichocephaly", + "common carotid artery plus branches", + "drooping eyelid", + "Abnormal cardiac ventricle morphology", + "abnormal small intestine morphology", + "Abnormality of brain morphology", + "abnormal heart morphology", + "appendage girdle region", + "anatomical structure morphogenesis", + "abnormal limb bone", + "abnormal spinal cord morphology", + "Hypogonadism", + "arm bone", + "urethral opening", + "Aganglionic megacolon", + "Abnormal nervous system morphology", + "sense organ", + "abnormal reproductive system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "Abnormality of head or neck", + "abnormally fused manual digit and anatomical entity", + "abnormally decreased functionality of the myocardium", + "Abnormal peripheral nerve morphology by anatomical site", + "Syndactyly", + "abnormal head morphology", + "digestive tract", + "abnormality of camera-type eye physiology", + "organism subdivision", + "subdivision of digestive tract", + "Abnormal pinna morphology", + "abnormally protruding anatomical entity", + "abnormal respiratory system morphology", + "respiratory airway", + "abnormal secondary palate morphology", + "venous system", + "musculoskeletal movement", + "decreased qualitatively biological_process", + "anatomical entity", + "abnormal trachea morphology", + "abnormal phenotype by ontology source", + "subdivision of trunk", + "behavior process", + "anterior chamber of eyeball", + "abnormal development of anatomical entity", + "increased biological_process", + "abnormal postcranial axial skeleton morphology", + "Abnormal ventriculoarterial connection", + "alimentary part of gastrointestinal system", + "abnormal renal system morphology", + "abnormal biological_process", + "abnormal cardiac ventricle morphology in the heart", + "Growth delay", + "kidney", + "embryo development", + "brain gray matter", + "Abnormal tracheobronchial morphology", + "subdivision of tube", + "Abnormal respiratory system morphology", + "Abnormal lens morphology", + "Multiple cafe-au-lait spots", + "system", + "transparent eye structure", + "Abnormality of the respiratory system", + "girdle skeleton", + "asymmetrically curved anatomical entity", + "Abnormal eye physiology", + "segment of autopod", + "thoracic segment of trunk", + "pes bone", + "abnormal bone of pelvic complex morphology", + "arm", + "Short stature", + "Abnormality of the vertebral column", + "abnormal digestive system", + "Abnormality of the digestive system", + "decreased anatomical entity mass", + "Abnormal morphology of the great vessels", + "pectoral complex", + "flat longitudinal arch of pes", + "abnormal bone of pectoral complex morphology", + "orifice", + "craniocervical region", + "abnormal developmental process", + "Abnormality of cardiovascular system morphology", + "abnormal respiratory system", + "Abnormal penis morphology", + "Intellectual disability", + "abnormal ocular adnexa", + "embryonic structure", + "brain ventricle/choroid plexus", + "proximo-distal subdivision of respiratory tract", + "Cognitive impairment", + "abnormal male reproductive system", + "abnormal mouth morphology", + "organ subunit", + "Abnormal neural tube morphology", + "ectoderm-derived structure", + "Aplasia/Hypoplasia of the testes", + "left cardiac chamber", + "Slanting of the palpebral fissure", + "Hip dislocation", + "Morphological abnormality of the gastrointestinal tract", + "oral cavity", + "vestibulo-ocular reflex", + "neocortex", + "Abnormality of refraction", + "digit 5", + "abnormal long bone morphology", + "digitopodium bone", + "endoderm-derived structure", + "abnormal penis", + "germ line cell", + "bone element hypoplasia in independent continuant", + "abnormal artery morphology", + "respiratory tract", + "respiratory tube", + "glans", + "abnormality of male reproductive system physiology", + "tube", + "brain ventricle", + "future nervous system", + "skeleton", + "multicellular organism", + "thoracic cavity element", + "Nystagmus", + "esophagus", + "physiologic nystagmus", + "hemolymphoid system", + "Lower extremity joint dislocation", + "lower respiratory tract", + "visual system", + "abnormal camera-type eye morphology", + "cornea", + "abdominal wall", + "3-D shape anatomical entity", + "Abnormality of the ear", + "eyelid", + "abnormally decreased number of leukocyte", + "orbital region", + "multicellular organism development", + "Ventriculomegaly", + "Abnormal anterior eye segment morphology", + "abnormal anatomical entity", + "Abnormality of the upper urinary tract", + "abnormal bony vertebral centrum morphology", + "abnormal alimentary part of gastrointestinal system", + "Abnormal carotid artery morphology", + "Astigmatism", + "circulatory organ", + "uvea", + "shape cornea", + "paired limb/fin segment", + "pelvic girdle region", + "simple eye", + "abnormal posterior nasal aperture morphology", + "curvature anatomical entity", + "abnormal orbital region", + "morphogenesis of an epithelium", + "epithelial tube morphogenesis", + "abnormal palpebral fissure", + "abnormal tube formation", + "circulatory system", + "Spina bifida", + "Aplasia/hypoplasia involving bones of the extremities", + "multicellular organismal-level homeostasis", + "anterior segment of eyeball", + "chordate embryonic development", + "skeleton of digitopodium", + "embryonic epithelial tube formation", + "cranium", + "dermatocranium", + "Abnormal axial skeleton morphology", + "abnormal vertebral column", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "Abnormal ileum morphology", + "increased qualitatively biological_process in independent continuant", + "joint of girdle", + "neural tube closure", + "abnormal ileum morphology", + "abnormal eyelid morphology", + "manus", + "abnormal nose morphology", + "embryonic tissue", + "ileum", + "Ventricular septal defect", + "small intestine", + "Abnormal jaw morphology", + "irregular bone", + "Meckel diverticulum", + "trunk bone", + "Azoospermia", + "Abnormal small intestine morphology", + "skeleton of lower jaw", + "abnormal small intestine", + "anus", + "Abnormal skull morphology", + "Abnormal anus morphology", + "Abnormal ear physiology", + "ecto-epithelium", + "abnormal closing of the anatomical entity", + "abnormal anus", + "Abnormal spermatogenesis", + "anatomical entity atresia", + "abnormally fused manual digit and manual digit", + "sensory perception", + "Abnormality of corneal shape", + "abnormality of anatomical entity mass", + "abnormality of multicellular organism mass", + "Abnormality of body weight", + "Weight loss", + "Decreased body weight", + "autopodial extension", + "growth", + "cardiac valve", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal craniocervical region morphology", + "abnormal growth", + "pelvic complex", + "Abnormality of the skin", + "outflow tract of ventricle", + "Abnormality of the choanae", + "abnormal iris morphology", + "abnormal cardiac ventricle morphology in the independent continuant", + "abnormal forelimb zeugopod bone", + "valve", + "abnormal platelet morphology", + "abnormal anatomical entity morphology in the manus", + "increased length of the anatomical entity", + "Cafe-au-lait spot", + "thoracic cavity blood vessel", + "aortic valve", + "abnormal internal ear", + "abnormal outflow part of left ventricle morphology", + "abnormal anatomical entity morphology in the heart", + "curvature anatomical entity in independent continuant", + "hypothalamus-pituitary axis", + "endochondral element", + "anatomical entity hypoplasia", + "abnormal cardiac ventricle morphology", + "motile cell", + "abnormal leg", + "internal ear", + "heart left ventricle", + "epithelium", + "autopodial skeleton", + "abnormal cardiac valve morphology in the independent continuant", + "Opisthokonta", + "Abnormality of digestive system morphology", + "Abnormality of the ocular adnexa", + "gamete", + "upper jaw region", + "Abnormal eyelid morphology", + "Abnormal facial skeleton morphology", + "multi organ part structure", + "increased length of the anatomical line between pupils", + "palpebral fissure", + "Abnormal ocular adnexa morphology", + "Upslanted palpebral fissure", + "manual digit plus metapodial segment", + "Abnormal bone ossification", + "female reproductive organ", + "ocular adnexa", + "obsolete multicellular organism reproduction", + "decreased developmental process", + "Abnormality of the palpebral fissures", + "Abnormal testis morphology", + "deviation of anatomical entity towards the middle", + "opaque anatomical entity", + "heart right ventricle", + "increased size of the anatomical entity", + "lens of camera-type eye", + "Cataract", + "abnormal lens of camera-type eye morphology", + "Atrial septal defect", + "drooping anatomical entity", + "clavate digit", + "shape eyelid", + "Ptosis", + "Abnormal cornea morphology", + "gland", + "abnormal artery morphology in the independent continuant", + "Abnormality iris morphology", + "abnormal penis morphology", + "abnormal cranium morphology", + "myeloid cell homeostasis", + "glans penis", + "Neoplasm by anatomical site", + "olfactory system", + "Abnormality of the nervous system", + "pedal digit digitopodial skeleton", + "pelvic region of trunk", + "bony vertebral centrum", + "abnormal olfactory system morphology", + "abnormal nose", + "sperm", + "internal naris", + "olfactory organ", + "cranial skeletal system", + "nose", + "endocrine gland", + "posterior nasal aperture", + "decreased size of the anatomical entity in the pectoral complex", + "musculature of body", + "nerve of head region", + "internal naris atresia", + "Abnormal male urethral meatus morphology", + "male urethra", + "posterior nasal aperture atresia", + "Hypospadias", + "epicanthal fold", + "hindlimb long bone", + "excretory system", + "abnormal urethra", + "renal system", + "abnormal lower urinary tract", + "segment of pes", + "voluntary movement behavior", + "Renal hypoplasia/aplasia", + "thoracic segment organ", + "urethra", + "gray matter of telencephalon", + "urethral meatus", + "nervous system", + "abnormal face", + "Displacement of the urethral meatus", + "abnormally fused anatomical entity and manual digit", + "abnormal renal system", + "Abnormality of the urethra", + "abnormal limb", + "immaterial entity", + "Abnormality of the lower urinary tract", + "abnormal spermatogenesis", + "Abnormal shape of the palpebral fissure", + "Scoliosis", + "Abnormal curvature of the vertebral column", + "tube closure", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormality of the abdominal organs", + "autopod region", + "Abnormal forearm morphology", + "Abnormality of enteric nervous system morphology", + "regional part of nervous system", + "Abnormal midface morphology", + "Deviation of the 5th finger", + "regional part of brain", + "Visual impairment", + "ulna", + "abdomen", + "deviation of manual digit towards the middle", + "Abnormal vascular morphology", + "Abnormality of skull size", + "Abnormal pulmonary valve morphology", + "abnormal anterior chamber of eyeball morphology", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "telencephalon", + "Decreased head circumference", + "abnormality of renal system physiology", + "abnormal esophagus morphology", + "abnormal size of anatomical entity", + "Leukopenia", + "abnormal hematopoietic system", + "abnormal ocular adnexa morphology", + "abnormally decreased number of hematopoietic cell", + "semi-lunar valve", + "hematopoietic cell", + "nucleate cell", + "abnormal uvea morphology", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal number of anatomical enitites of type hematopoietic cell", + "digit 1 plus metapodial segment", + "synovial joint", + "Abnormality of the anus", + "abnormal immune system", + "pedal digitopodium region", + "abnormally decreased number of cell", + "Functional abnormality of the inner ear", + "pedal digit", + "haemolymphatic fluid", + "abnormally decreased number of leukocyte in the blood", + "axial skeleton plus cranial skeleton", + "Abnormal leukocyte morphology", + "abnormal number of anatomical entities of type anatomical entity in blood", + "abnormal kidney", + "abnormal number of anatomical enitites of type leukocyte", + "Abnormality of thrombocytes", + "Abnormal immune system morphology", + "abnormally decreased number of anatomical entity in the multicellular organism", + "digit 5 plus metapodial segment", + "Myelodysplasia", + "abnormal immune system morphology", + "Hematological neoplasm", + "Reduced bone mineral density", + "abnormal size of brain ventricle", + "nerve", + "Frontal bossing", + "zone of organ", + "increased size of the brain ventricle", + "Abnormality of vision", + "Non-obstructive azoospermia", + "increased size of the anatomical entity in independent continuant", + "central nervous system gray matter layer", + "chamber of eyeball", + "pedal digit bone", + "cardiac atrium", + "Abnormality of the integument", + "delayed growth", + "Abnormality of the endocrine system", + "forelimb", + "skeleton of pelvic complex", + "abnormal endocrine system", + "abdominal segment of trunk", + "Conotruncal defect", + "digestive system gland", + "musculoskeletal system", + "abdominal segment element", + "glandular system", + "jaw skeleton", + "abnormal uterus morphology", + "hindlimb bone", + "exocrine gland", + "Decreased fertility", + "behavior", + "abdomen element", + "Abnormality of the liver", + "liver", + "abnormal hypothalamus-pituitary axis", + "increased anatomical entity length in independent continuant", + "Hypertelorism", + "abnormally fused pedal digit and anatomical entity", + "abnormal location of anatomical entity", + "Cardiomyopathy", + "flat bone", + "immaterial anatomical entity", + "abnormal anatomical entity, curved", + "anatomical line", + "non-material anatomical boundary", + "abnormal anatomical entity topology in independent continuant", + "abnormal anatomical entity length", + "cavitated compound organ", + "Abnormal duodenum morphology", + "duodenum", + "Abnormality of the lower limb", + "skeleton of pedal digitopodium", + "skeleton of pedal acropodium", + "vertebral centrum element", + "pelvic appendage skeleton", + "hindlimb endochondral element", + "skeleton of pes", + "abnormal incomplete closing of the interventricular septum", + "Abnormal toe morphology", + "pes", + "abnormal phalanx morphology", + "Choanal atresia", + "acropodial skeleton", + "digitopodium region", + "3-D shape anatomical entity in independent continuant", + "Abnormal digit morphology", + "Duodenal stenosis", + "Abnormal foot morphology", + "Hypermelanotic macule", + "digit", + "abnormal hindlimb morphology", + "clavate anatomical entity", + "Hydroureter", + "Abnormal uterus morphology", + "Abnormal oral morphology", + "abnormal digit morphology", + "shape forehead", + "posterior region of body", + "individual digit of digitopodial skeleton", + "phalanx endochondral element", + "abnormal forehead morphology", + "Abnormal lower limb bone morphology", + "abnormal digit", + "leg", + "abnormally decreased number of anatomical entity in the blood", + "phalanx of pes", + "phalanx", + "abnormal skeletal system morphology", + "lower limb segment", + "abnormal autopod region morphology", + "nervous system cell part layer", + "aplasia or hypoplasia of uvea", + "abnormal pes morphology", + "abnormal phalanx of pes morphology", + "genitourinary system", + "Limb undergrowth", + "Abnormality of the kidney", + "abnormal kidney morphology", + "skull", + "femur", + "Decreased fertility in males", + "primary circulatory organ", + "aplasia or hypoplasia of palatine uvula", + "abnormal joint of girdle morphology", + "anatomical projection", + "Abnormal aortic valve morphology", + "midface", + "abnormal soft palate morphology", + "abnormal mouth", + "Abnormal soft palate morphology", + "shape palpebral fissure", + "abnormal palatine uvula morphology", + "anatomical cavity", + "abnormal midface morphology", + "palatine uvula", + "Abnormal erythrocyte morphology", + "soft palate", + "abnormal oral cavity morphology", + "Abnormal oral cavity morphology", + "abnormal asymmetry of face", + "abnormal integument", + "abnormal cardiac valve morphology", + "Localized skin lesion", + "Abnormal 5th finger morphology", + "Abnormal thumb morphology", + "aplasia or hypoplasia of ulna", + "manual digit bone", + "abnormal biological_process in independent continuant", + "non-functional kidney", + "decreased size of the anatomical entity", + "Abnormal cerebral cortex morphology", + "forebrain", + "increased qualitatively biological_process", + "abnormal cell morphology", + "anatomical collection", + "Macule", + "eyeball of camera-type eye", + "abnormal upper urinary tract", + "abnormal skin of body", + "abnormal nerve", + "abnormally increased number of anatomical entity in the independent continuant", + "limb joint", + "Hyperpigmentation of the skin", + "Abnormality of skin morphology", + "integument", + "abnormality of kidney physiology", + "changed biological_process rate in independent continuant", + "increased biological_process in independent continuant", + "ulna hypoplasia", + "increased biological_process in skin of body", + "abnormal cornea, curved", + "pigmentation", + "increased pigmentation in independent continuant", + "skeleton of manus", + "abnormal cardiac valve morphology in the heart", + "Abnormality of the hand", + "bone of hip region", + "Aplasia/hypoplasia of the extremities", + "Aplasia/Hypoplasia of fingers", + "abnormal manus", + "decreased pigmentation in skin of body", + "Abnormal finger morphology", + "Aplasia/hypoplasia involving bones of the hand", + "Aplasia/hypoplasia involving the skeleton", + "abnormal manus morphology", + "vascular system", + "abnormal anterior segment of eyeball morphology", + "aplasia or hypoplasia of skeleton", + "male reproductive system", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "Abnormal internal genitalia", + "abnormally fused anatomical entity and digit", + "abnormal developmental process involved in reproduction", + "abnormally fused digit and anatomical entity", + "appendage", + "abnormally fused digit and digit", + "Clinodactyly of the 5th finger", + "anatomical space", + "abnormally fused anatomical entity and anatomical entity", + "biogenic amine secreting cell", + "ossification", + "Abnormality of bone mineral density", + "manual digit 5", + "cardiac chamber", + "abnormal spatial pattern of anatomical entity", + "appendicular skeletal system", + "abnormal location of eyeball of camera-type eye", + "deviation of manual digit 5", + "trunk", + "manual digit 5 plus metapodial segment", + "digit 1 or 5", + "deviation of digit towards the middle", + "abnormal late embryo", + "Deviation of the hand or of fingers of the hand", + "Abnormality of the hypothalamus-pituitary axis", + "deviation of anatomical entity", + "deviation of manual digit", + "paired limb/fin skeleton", + "Abnormal nervous system physiology", + "Hypoplasia of the ulna", + "hypertrophic multicellular anatomical structure", + "dermal skeletal element", + "decreased length of anatomical entity in independent continuant", + "decreased height of the anatomical entity", + "Abnormality of the eye", + "decreased size of the ulna", + "forelimb zeugopod bone hypoplasia", + "Upper limb undergrowth", + "abnormal incomplete closing of the interatrial septum", + "intestine", + "Decreased multicellular organism mass", + "Aplasia/Hypoplasia of the ulna", + "aplasia or hypoplasia of telencephalon", + "decreased size of the anatomical entity in the independent continuant", + "Short forearm", + "increased height of the secondary palate", + "Tetralogy of Fallot", + "Forearm undergrowth", + "Aplasia/hypoplasia involving forearm bones", + "articulation", + "skeletal joint dislocation", + "articular system", + "peripheral nervous system", + "abnormal hip joint morphology", + "pelvic girdle skeleton", + "pelvic girdle bone/zone", + "systemic arterial system", + "Abnormal cerebral morphology", + "Joint dislocation", + "Micrognathia", + "anatomical entity dislocation", + "Abnormal localization of kidney", + "abnormal skeletal joint morphology", + "skin of body", + "cerebral hemisphere gray matter", + "abnormal pelvic girdle bone/zone morphology", + "abnormal embryonic tissue morphology", + "zone of bone organ", + "Abnormal hip bone morphology", + "Aplasia/Hypoplasia of the radius", + "Abnormal pelvic girdle bone morphology", + "abnormal external ear", + "girdle bone/zone", + "abnormal jaw skeleton morphology", + "Abnormality of the face", + "synovial joint of pelvic girdle", + "abnormal hindlimb stylopod morphology", + "Abnormality of femur morphology", + "abnormal femur morphology", + "dentary", + "femur endochondral element", + "stylopod", + "upper leg bone", + "Abnormality of enteric ganglion morphology", + "Unusual infection", + "abnormal enteric ganglion morphology", + "Abnormal autonomic nervous system morphology", + "abnormal skin of body morphology", + "Abnormal peripheral nervous system ganglion morphology", + "enteric ganglion", + "abnormal face morphology", + "axial skeletal system", + "abnormal intestine morphology", + "autonomic ganglion", + "parasympathetic nervous system", + "Abnormality of the autonomic nervous system", + "autonomic nervous system", + "Abnormal hand morphology", + "abnormal ganglion of peripheral nervous system morphology", + "parasympathetic ganglion", + "enteric nervous system", + "abnormal ocular surface region morphology", + "abnormal ganglion morphology", + "abnormal vascular system morphology", + "cortex of cerebral lobe", + "abnormal frontal cortex morphology", + "tetrapod frontal bone", + "abnormal roof of mouth morphology", + "prominent anatomical entity" + ], + "has_phenotype_count": 106, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0060778", + "category": "biolink:Disease", + "name": "adult Fanconi syndrome", + "full_name": null, + "deprecated": null, + "description": "Probably related to a recessive gene, this is Fanconi Syndrome, characterized by adult onset.", + "xref": ["NCIT:C4377"], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": ["adult Fanconi syndrome", "adult Fanconi's syndrome"], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": ["HP:0003581"], + "has_phenotype_label": ["Adult onset"], + "has_phenotype_closure": [ + "HP:0003581", + "HP:0012823", + "HP:0000001", + "HP:0003674", + "HP:0031797" + ], + "has_phenotype_closure_label": [ + "Clinical course", + "All", + "Adult onset", + "Clinical modifier", + "Onset" + ], + "has_phenotype_count": 1, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0009217", + "category": "biolink:Disease", + "name": "Fanconi-like syndrome", + "full_name": null, + "deprecated": null, + "description": "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.", + "xref": [ + "DOID:0090066", + "MESH:C536855", + "OMIM:227850", + "SCTID:236469003", + "UMLS:C0151638" + ], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": ["Fanconi-like syndrome"], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0002754", + "HP:0002783", + "HP:0005939", + "HP:0001876", + "HP:0007606" + ], + "has_phenotype_label": [ + "Osteomyelitis", + "Recurrent lower respiratory tract infections", + "Multiple bilateral pneumothoraces", + "Pancytopenia", + "Multiple cutaneous malignancies" + ], + "has_phenotype_closure": [ + "HP:0001574", + "UBERON:0004121", + "HP:0007606", + "HP:0011793", + "UBERON:0002097", + "UBERON:0002199", + "UBERON:0002416", + "HP:0002664", + "UPHENO:0002635", + "UPHENO:0085302", + "HP:0032251", + "HP:0001876", + "UPHENO:0085195", "UPHENO:0084928", + "UPHENO:0076675", + "CL:0002242", + "UPHENO:0086005", + "CL:0000219", + "CL:0001035", "UBERON:0002193", + "CL:0000225", + "CL:0000255", + "UPHENO:0011498", + "HP:0025354", + "CL:0000151", + "HP:0011873", + "UBERON:0002371", + "UPHENO:0087123", "HP:0011842", - "HP:0007367", - "UPHENO:0002844", - "UBERON:0011216", - "PR:000050567", - "UPHENO:0076803", + "UPHENO:0063722", + "HP:0001872", + "HP:0012145", + "UPHENO:0084987", + "UPHENO:0085068", + "UPHENO:0006910", + "UPHENO:0086049", + "UPHENO:0085118", + "UPHENO:0086172", + "UBERON:0000479", + "HP:0005561", + "UPHENO:0087355", + "HP:0011875", + "UPHENO:0088166", + "UPHENO:0076703", + "CL:0002092", + "UPHENO:0085144", + "HP:0011893", + "HP:0020047", + "UPHENO:0004459", + "CL:0000233", + "CL:0000232", + "CL:0000458", + "CL:0000763", + "UPHENO:0085371", + "CL:0000457", + "CL:0000738", + "UPHENO:0086045", + "UPHENO:0085984", + "UPHENO:0077426", + "UPHENO:0086173", "NCBITaxon:33154", - "UPHENO:0071344", - "HP:0001626", - "HP:0040075", - "UPHENO:0076799", - "HP:0002863", - "UBERON:0011299", - "UBERON:0000160", - "UBERON:0004120", - "HP:0012503", - "UPHENO:0050108", - "HP:0011314", - "UBERON:0000063", - "HP:0004377", - "UBERON:0000465", - "UBERON:0015203", - "UPHENO:0075175", - "HP:0006501", - "HP:0100547", - "UPHENO:0086589", - "UPHENO:0051804", - "HP:0025031", - "HP:0012718", - "UPHENO:0012274", - "UBERON:0010314", - "UBERON:0000062", - "UBERON:0000075", - "HP:0002242", - "UPHENO:0015280", - "UPHENO:0074228", - "HP:0040070", - "UBERON:0002090", - "UPHENO:0077872", + "NCBITaxon:6072", + "BFO:0000020", "BFO:0000015", - "UPHENO:0080079", - "UBERON:0003103", - "GO:0051234", - "UPHENO:0068971", - "HP:0002247", - "UPHENO:0080187", - "UPHENO:0087501", - "HP:0009601", - "HP:0002664", - "HP:0001507", - "HP:0001871", - "UPHENO:0088186", - "UPHENO:0001072", - "UBERON:0000025", - "HP:0000929", - "UPHENO:0088047", + "HP:0008069", + "UBERON:0001474", + "HP:0005939", + "CL:0000000", + "UPHENO:0054970", + "HP:0002719", + "BFO:0000004", + "UBERON:0001005", + "UPHENO:0080377", "UBERON:0001062", + "UBERON:0000042", + "UBERON:0002204", + "UBERON:0004765", + "UBERON:0034923", + "UPHENO:0081440", + "BFO:0000040", + "UPHENO:0074624", + "UBERON:0015212", + "UPHENO:0083263", + "UBERON:0000468", + "UPHENO:0001005", + "UBERON:0002390", + "GO:0006954", + "HP:0002754", + "HP:0010978", + "UPHENO:0002964", + "HP:0000951", + "HP:0012252", + "GO:0006952", "HP:0002715", - "UPHENO:0069294", - "UPHENO:0001002", - "GO:0006810", - "UBERON:0000026", - "UPHENO:0002725", - "UBERON:0000463", - "UPHENO:0001003", - "HP:0002060", - "HP:0000118", - "UBERON:0005282", - "UPHENO:0049874", + "UBERON:0000025", + "CL:0000329", + "HP:0012647", + "UPHENO:0081590", + "UPHENO:0003811", + "UPHENO:0082682", + "UPHENO:0049587", + "HP:0010987", + "UBERON:0000977", + "HP:0000924", + "BFO:0000002", "PATO:0000001", - "UPHENO:0075902", - "UPHENO:0076783", - "HP:0002813", - "HP:0000001", - "UBERON:0013522", - "UBERON:0007272", + "UBERON:0000915", "BFO:0000001", - "GO:0046903", - "UBERON:0001460", - "UBERON:0000033", - "HP:0000824", - "UPHENO:0081566", - "UBERON:0011143", - "UBERON:0013701", - "HP:0011024", - "UBERON:0019221", - "UPHENO:0087472", - "BFO:0000020", - "BFO:0000002", - "UPHENO:0005433", - "UPHENO:0020041", - "UBERON:0001017", - "UBERON:0001895", - "UBERON:0000073", - "BFO:0000004", - "UPHENO:0002905", - "UBERON:0004092", - "UPHENO:0063639", - "UPHENO:0076723", - "HP:0002246", - "UPHENO:0076289", + "UPHENO:0080662", + "UBERON:0004120", + "UPHENO:0001002", + "UPHENO:0074687", + "UPHENO:0080693", + "UPHENO:0080221", + "UPHENO:0074685", + "UBERON:0000481", + "UPHENO:0002332", + "HP:0033127", + "UPHENO:0059829", + "UBERON:0002405", + "NCBITaxon:2759", "UBERON:0000061", - "HP:0011283", - "UPHENO:0083952", - "HP:0009821", - "UPHENO:0081562", - "UPHENO:0012541", - "UPHENO:0081435", - "HP:0000707", - "HP:0025033", - "UPHENO:0081091", - "UBERON:0001007", - "UBERON:0006048", + "HP:0001881", + "UPHENO:0085344", + "HP:0002205", + "UBERON:0000065", + "UBERON:0000467", + "UBERON:0002100", + "UBERON:0011216", + "UBERON:0001434", + "HP:0011843", + "HP:0002088", + "UPHENO:0001003", + "HP:0000118", "UBERON:0000064", - "UBERON:0011138", - "HP:0011100", - "NCBITaxon:6072", - "UPHENO:0004459", - "UBERON:0004375", - "UPHENO:0087427", - "HP:0002119", - "UBERON:0011137", - "UBERON:0010712", - "UPHENO:0077873", - "UPHENO:0084771", - "UPHENO:0020584", - "UBERON:0004177", - "HP:0002244", - "UPHENO:0001005", + "UPHENO:0086908", + "UPHENO:0001001", + "UPHENO:0002263", + "UPHENO:0082875", + "UBERON:0010000", + "CL:0000764", + "UPHENO:0074572", + "NCBITaxon:1", + "UPHENO:0002948", + "UPHENO:0049588", + "UPHENO:0002536", + "UPHENO:0002448", + "UBERON:0015203", + "UBERON:0005906", + "CL:0000988", + "UBERON:0000465", + "UPHENO:0082723", + "UPHENO:0015280", + "UPHENO:0085070", + "UPHENO:0076692", + "UBERON:0001004", + "UBERON:0013522", + "BFO:0000003", + "PR:000050567", + "UPHENO:0087339", + "UPHENO:0087433", + "UPHENO:0076684", + "UBERON:0001558", + "UBERON:0013701", + "CL:0000081", "UBERON:0009569", - "BFO:0000040", - "UPHENO:0002880", - "UBERON:0000467", - "HP:0003026", - "UPHENO:0078743", - "UBERON:0002405", - "UPHENO:0080382", - "UPHENO:0046540", - "UBERON:0013765", - "HP:0011297", + "UBERON:0000475", + "UPHENO:0020748", + "UBERON:0000062", + "HP:0002086", + "HP:0002783", + "UPHENO:0004536", + "UBERON:0003103", + "GO:0050896", + "UPHENO:0049584", + "HP:0012649", + "UBERON:0000060", + "UBERON:0011676", + "UBERON:0000072", + "HP:0011947", + "OBI:0100026", + "UPHENO:0020584", + "HP:0000001", + "UBERON:0004111", + "UBERON:0005178", + "HP:0032101", + "HP:0001871", + "UPHENO:0049586", "UPHENO:0075696", - "UBERON:0010000" + "HP:0002103", + "UBERON:0005181", + "HP:0025461", + "UPHENO:0085189", + "NCBITaxon:33208", + "UBERON:0000077", + "UBERON:0002075", + "HP:0001873", + "UBERON:0013702", + "UPHENO:0019970", + "GO:0008150", + "HP:0002795", + "UBERON:0034925", + "UBERON:0002048", + "UBERON:0000171", + "UBERON:0005177", + "UBERON:0004119", + "UBERON:0000170", + "HP:0002107", + "GO:0006950", + "NCBITaxon:131567", + "UBERON:0009778" ], "has_phenotype_closure_label": [ - "abnormal upper urinary tract", - "renal system", - "Abnormality of the kidney", - "cavitated compound organ", - "abnormal kidney", - "excretory system", - "Abnormality of the genitourinary system", - "abnormal renal system", - "Abnormality of the upper urinary tract", - "kidney", - "decreased size of the kidney", - "Renal hypoplasia", - "Abnormality of the urinary system", - "face", - "Midface retrusion", - "subdivision of head", - "anatomical entity hypoplasia in face", - "abnormal midface morphology", - "Abnormal midface morphology", + "Abnormality of the skin", + "Multiple cutaneous malignancies", + "Neoplasm of the skin", + "integumental system", + "Neoplasm", + "Neoplasm by anatomical site", + "cell", + "Pancytopenia", + "Abnormal immune system morphology", + "serotonin secreting cell", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal bone marrow cell", + "Abnormal cell morphology", + "abnormally decreased number of anatomical entity", + "Abnormality of blood and blood-forming tissues", + "abnormal hematopoietic cell morphology", "bone marrow", - "bone marrow cell", - "myeloid cell", - "bone cell", "abnormal bone marrow cell morphology", - "abnormal megakaryocyte morphology", - "Abnormal megakaryocyte morphology", - "tissue", + "skeletal element", + "abnormal hematopoietic system morphology", + "abnormally decreased number of cell", + "bone element", + "abnormal myeloid cell morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormally decreased number of platelet", + "abnormal number of anatomical enitites of type platelet", + "platelet", + "Abnormal cellular immune system morphology", + "erythrocyte", + "leukocyte", "Abnormal cellular phenotype", - "Abnormal metencephalon morphology", - "abnormally formed cerebellum", - "Abnormal hindbrain morphology", - "hindbrain", - "cerebellum", - "metencephalon", - "Abnormal cerebellum morphology", - "abnormal cerebellum morphology", - "abnormally formed anatomical entity in independent continuant", - "midface", - "segmental subdivision of hindbrain", - "abnormal metencephalon morphology", - "Abnormal cerebral subcortex morphology", - "Neurodegeneration", - "cerebral hemisphere white matter", - "white matter", - "abnormal cerebral subcortex morphology", - "white matter of telencephalon", - "central nervous system cell part cluster", - "cerebral subcortex", - "Atrophy/Degeneration affecting the central nervous system", - "anatomical entity degeneration", - "Leukoencephalopathy", - "abnormal brain white matter morphology", - "multi cell part structure", - "glandular system", - "blood", - "decreased secretion in independent continuant", - "abnormal cerebral hemisphere morphology", - "decreased qualitatively biological_process in central nervous system", - "abnormal biological_process in central nervous system", - "localization", - "cellular process", - "decreased growth hormone secretion", - "abnormal growth hormone secretion", - "hypothalamus-pituitary axis", - "kidney hypoplasia", - "regulation of biological quality", - "abnormal hindbrain morphology", - "abnormal blood chemical entity level", - "Abnormality of the anterior pituitary", - "Abnormal circulating hormone concentration", - "abnormal endocrine system", - "abnormal hypothalamus-pituitary axis", - "abnormal multicellular organism chemical entity level", - "reproductive system", - "neuroendocrine system", - "signaling", - "transport", - "chemical entity", - "Abnormal endocrine physiology", - "Abnormal response to endocrine stimulation test", - "hormone transport", - "nitrogen compound transport", - "secretion", - "organic substance transport", - "signal release", - "reproductive organ", - "abnormal chemical entity level", - "regulation of hormone levels", - "Decreased response to growth hormone stimulation test", - "abnormality of endocrine system physiology", - "abnormal secretion by cell", - "megakaryocyte", - "Abnormal cell morphology", - "Abnormal endocrine morphology", - "abnormal endocrine gland morphology", - "abnormal cellular process", - "abnormal diencephalon morphology", - "gland of diencephalon", - "abnormal kidney morphology", - "decreased secretion in pituitary gland", - "decreased biological_process in pituitary gland", - "growth hormone secretion", - "diencephalon", - "cerebral hemisphere", - "pituitary gland", - "adenohypophysis", - "abnormal biological_process in independent continuant", - "abnormality of anatomical entity physiology", - "neuroendocrine gland", - "changed biological_process rate in independent continuant", - "Abnormality of limb bone morphology", - "peptide transport", - "changed biological_process rate in brain", - "abnormal localization", - "vasculature", - "subdivision of skeletal system", - "circulatory system", - "cardiovascular system", - "abnormal spleen", - "non-connected functional system", + "abnormal platelet", + "Abnormality of bone marrow cell morphology", + "bone cell", + "nucleate cell", + "oxygen accumulating cell", + "hemolymphoid system", + "hematopoietic cell", + "Abnormal leukocyte count", + "secretory cell", + "abnormal hematopoietic system", + "abnormal leukocyte morphology", + "increased biological_process in bone element", + "increased biological_process in independent continuant", + "changed biological_process rate in independent continuant", + "abnormal skeletal system morphology", + "Abnormality of the musculoskeletal system", + "Eukaryota", + "bone marrow cell", + "hematopoietic system", + "Abnormality of the skeletal system", + "anatomical entity", + "Abnormal inflammatory response", + "abnormal integument", "abnormal biological_process", - "multi-tissue structure", - "Abnormality of the cardiovascular system", + "increased inflammatory response", + "increased inflammatory response in bone element", + "abnormally decreased number of myeloid cell", + "compound organ", + "abnormal anatomical entity", + "occurrent", + "Osteomyelitis", + "anucleate cell", + "phenotype by ontology source", + "abnormal cell", + "Abnormal respiratory system physiology", + "increased qualitatively biological_process in independent continuant", + "anatomical structure", + "anatomical conduit", + "increased qualitatively response to stimulus", + "Thrombocytopenia", + "Abnormality of immune system physiology", "viscus", - "abnormal skeletal system", - "peptide secretion", - "abdomen", - "abnormal immune system", - "Abnormality of the endocrine system", - "lymphoid system", - "Abnormality of the vasculature", - "abnormal brain ventricle/choroid plexus morphology", - "abnormally increased number of spleen", - "disconnected anatomical group", - "Abnormal upper limb bone morphology", - "abnormal lymphatic part of lymphoid system", - "malformed anatomical entity", - "autopodial skeleton", - "Supernumerary spleens", - "Abnormality of the immune system", - "abnormal cardiovascular system", - "abnormal diencephalon", - "abdominal viscera", - "subdivision of trunk", - "abdomen element", - "endocrine gland", - "abnormal vasculature", - "pectoral complex", - "abnormal development of anatomical entity", - "trunk region element", - "intestine atresia", - "abnormal spleen morphology", - "changed embryo development rate", - "Abnormal cerebral white matter morphology", - "Intrauterine growth retardation", - "hemopoietic organ", - "developmental process", - "aplasia or hypoplasia of radius bone", - "main body axis", - "cellular organisms", - "abnormal adenohypophysis", - "multicellular organismal process", - "abnormal embryo development", - "Abnormality of bone marrow cell morphology", - "anatomical structure development", - "changed biological_process rate", - "decreased developmental process", - "growth", - "increased size of the anatomical entity in independent continuant", - "subdivision of skeleton", + "abnormal immune system morphology", + "Eumetazoa", + "defense response", + "Abnormality of the integument", "protein-containing material entity", + "motile cell", + "independent continuant", + "material entity", + "abnormal phenotype by ontology source", + "phenotype", "biological_process", - "embryo development", - "delayed biological_process", - "Abnormal radial ray morphology", - "abnormal anatomical entity morphology in the manus", - "Abnormality of the face", + "quality", + "abnormal cell morphology", + "myeloid cell", + "immune system", + "root", + "Increased inflammatory response", + "tissue", + "continuant", + "entity", + "disconnected anatomical group", + "abnormal number of anatomical enitites of type cell", + "increased inflammatory response in independent continuant", + "trunk", + "abnormality of musculoskeletal system physiology", + "abnormal blood cell morphology", "Phenotypic abnormality", - "abnormal digit morphology", - "cell communication", - "central nervous system", - "absent anatomical entity", - "acropodium region", - "Finger aplasia", - "digitopodium region", + "abnormality of immune system physiology", + "multicellular organism", + "Abnormal myeloid cell morphology", + "changed biological_process rate", + "Abnormal platelet morphology", + "abnormal anatomical entity morphology", + "lateral structure", + "skin of body", + "skeletal system", + "abnormal skin of body", + "musculoskeletal system", + "Abnormal pleura morphology", + "non-connected functional system", + "increased qualitatively inflammatory response", + "subdivision of tube", + "abnormal inflammatory response", + "Abnormal leukocyte morphology", + "response to stimulus", + "Abnormal skeletal morphology", + "abnormal response to stimulus", + "abnormal skeletal system", + "increased biological_process", + "integument", + "eukaryotic cell", + "increased qualitatively inflammatory response in independent continuant", + "inflammatory response", + "specifically dependent continuant", + "organ system subdivision", + "response to stress", + "ectoderm-derived structure", + "proximo-distal subdivision of respiratory tract", + "increased qualitatively biological_process", + "pleural sac", + "biogenic amine secreting cell", + "Abnormal musculoskeletal physiology", + "Abnormal platelet count", + "abnormal platelet morphology", + "material anatomical entity", + "erythroid lineage cell", + "multicellular anatomical structure", + "anatomical system", + "Abnormality of thrombocytes", + "organ", + "organism", + "abnormal respiratory system morphology", + "Abnormal lung morphology", "abnormal anatomical entity morphology in the independent continuant", - "segment of manus", - "secretion by cell", - "manual digit 1", - "skeleton", - "Absent thumb", - "Abnormality of the diencephalon", - "Abnormality of skull size", - "Abnormal digit morphology", - "decreased biological_process in independent continuant", - "abnormal manual digit morphology in the manus", - "aplasia or hypoplasia of manual digit", - "autopodial extension", - "digit plus metapodial segment", - "abnormal role blood level", - "hormone secretion", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal periventricular white matter morphology", - "brain ventricle", - "Abnormal spleen morphology", - "changed developmental process rate", - "manual digitopodium region", - "Renal hypoplasia/aplasia", - "abnormal secretion in independent continuant", + "organ part", + "Recurrent respiratory infections", + "respiratory system", + "Multiple bilateral pneumothoraces", + "main body axis", + "abnormally decreased number of hematopoietic cell", + "serous membrane", + "abnormal biological_process in independent continuant", + "Unusual infection", + "Metazoa", + "Abnormality of the immune system", + "multi-tissue structure", + "Recurrent infections", + "abnormal blood cell", + "abnormal response to stress", + "subdivision of trunk", + "Abnormal respiratory system morphology", + "Abnormality of the respiratory system", + "abnormal number of anatomical enitites of type hematopoietic cell", + "Recurrent lower respiratory tract infections", + "endoderm-derived structure", + "pair of lungs", + "blood cell", + "respiration organ", + "abnormal immune system", + "thoracic segment of trunk", + "thoracic segment organ", + "anatomical collection", + "trunk region element", + "body proper", + "abnormal respiratory system", + "Abnormality of multiple cell lineages in the bone marrow", "abnormal number of anatomical enitites of type anatomical entity", - "radius endochondral element", - "abnormal immune system morphology", - "Hematological neoplasm", - "Forearm undergrowth", - "Aplasia/Hypoplasia of fingers", - "regulation of biological process", - "Abnormal thumb morphology", - "reproductive structure", - "manual digit 1 or 5", - "Abnormal hand morphology", - "abnormal digit", - "absent manual digit", - "digit 1 or 5", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal face", - "aplastic anatomical entity", + "serous sac", + "abnormality of respiratory system physiology", + "cellular organisms", + "Opisthokonta", + "Respiratory tract infection", + "All", + "abnormal lung morphology", + "tube", + "Pneumothorax", + "respiratory tract", + "organism subdivision", + "respiratory airway", + "thoracic cavity element", "subdivision of organism along main body axis", - "Abnormality of the hand", - "Aplasia/Hypoplasia of the thumb", - "agenesis of anatomical entity", - "manual digit", - "brain white matter", - "abdominal segment element", - "absent digit", - "Anterior hypopituitarism", - "abnormal endocrine system morphology", - "trunk", - "digit 1 plus metapodial segment", + "lung", + "abnormal number of anatomical enitites of type myeloid cell", + "mixed endoderm/mesoderm-derived structure", + "lower respiratory tract", "anatomical wall", - "abnormal brain ventricle morphology", - "abnormal size of brain ventricle", - "Ventriculomegaly", - "zeugopodial skeleton", - "ventricle of nervous system", - "Morphological abnormality of the gastrointestinal tract", - "abnormally increased number of anatomical entity in the independent continuant", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal cerebral ventricle morphology", - "ventricular system of central nervous system", - "increased size of the anatomical entity", - "haemolymphatic fluid", - "ventricular system of brain", - "absent anatomical entity in the independent continuant", - "subdivision of organism along appendicular axis", - "forelimb", - "decreased biological_process", - "Abnormal appendicular skeleton morphology", - "radius bone hypoplasia", - "peptide hormone secretion", - "abnormal hematopoietic system morphology", - "cerebral hemisphere white matter degeneration", - "Aplasia/hypoplasia involving the skeleton", - "Short long bone", - "pectoral appendage", - "bodily fluid", - "cell-cell signaling", - "abnormal anatomical entity morphology in the pectoral complex", - "amide transport", - "anatomical entity hypoplasia", - "phenotype", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "continuant", - "aplastic manual digit 1", - "abnormal limb long bone morphology", - "abnormal neuroendocrine gland morphology", - "Abnormal growth hormone level", - "Abnormal nervous system morphology", - "forelimb zeugopod", - "midface hypoplasia", - "multi-limb segment region", - "immune organ", - "endochondral element", - "abnormal growth", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "abnormal cell morphology", - "limb bone", - "decreased biological_process in multicellular organism", - "forelimb endochondral element", - "abnormal hormone independent continuant level", - "pectoral appendage skeleton", - "Abnormality of the spleen", - "abnormally increased number of anatomical entity in the abdomen", - "Abnormal morphology of the radius", - "bone of free limb or fin", - "decreased size of the anatomical entity in the independent continuant", - "digit", + "process", + "pleura", + "abnormality of anatomical entity physiology", + "abnormal pleura morphology", + "mesoderm-derived structure", + "abnormal bone marrow morphology" + ], + "has_phenotype_count": 5, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0001083", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome", + "full_name": null, + "deprecated": null, + "description": "A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.", + "xref": [ + "DOID:1062", + "GARD:9120", + "MESH:D005198", + "NANDO:2100027", + "NANDO:2200187", + "NCIT:C3034", + "SCTID:40488004", + "UMLS:C0015624" + ], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [ + "De toni-Fanconi syndrome", + "De toni-debre-Fanconi syndrome", + "Fanconi syndrome", + "Fanconi's syndrome", + "Fanconi-de toni syndrome", + "Fanconi-de-toni syndrome", + "Lignac-Fanconi syndrome", + "adult Fanconi syndrome", + "congenital Fanconi syndrome", + "deToni Fanconi syndrome", + "infantile nephropathic cystinosis", + "toni-debre-Fanconi syndrome" + ], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": 0, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0060779", + "category": "biolink:Disease", + "name": "acquired Fanconi syndrome", + "full_name": null, + "deprecated": null, + "description": "Fanconi Syndrome caused by exposure to noxious agents.", + "xref": ["NCIT:C78296", "SCTID:236467001", "UMLS:C0341702"], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": ["acquired Fanconi syndrome"], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": 0, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0007600", + "category": "biolink:Disease", + "name": "primary Fanconi syndrome", + "full_name": null, + "deprecated": null, + "description": "A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.", + "xref": ["GARD:9118", "NCIT:C123229", "Orphanet:3337"], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [ + "FRTS1", + "Fanconi renotubular syndrome 1", + "primary Fanconi renotubular syndrome" + ], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0002749", + "HP:0000117", + "HP:0001824", + "HP:0001324", + "HP:0004910", + "HP:0001510", + "HP:0003774", + "HP:0002150", + "HP:0001944", + "HP:0002206", + "HP:0001943", + "HP:0012622", + "HP:0012606", + "HP:0004912", + "HP:0003537", + "HP:0003234", + "HP:0003081", + "HP:0002900", + "HP:0002659", + "HP:0002653", + "HP:0002148", + "HP:0032943", + "HP:0004918", + "HP:0003646", + "HP:0003149", + "HP:0003126", + "HP:0003076", + "HP:0002909", + "HP:0002049" + ], + "has_phenotype_label": [ + "Osteomalacia", + "Renal phosphate wasting", + "Weight loss", + "Muscle weakness", + "Bicarbonate-wasting renal tubular acidosis", + "Growth delay", + "Stage 5 chronic kidney disease", + "Hypercalciuria", + "Dehydration", + "Pulmonary fibrosis", + "Hypoglycemia", + "Chronic kidney disease", + "Renal sodium wasting", + "Hypophosphatemic rickets", + "Hypouricemia", + "Decreased plasma carnitine", + "Increased urinary potassium", + "Hypokalemia", + "Increased susceptibility to fractures", + "Bone pain", + "Hypophosphatemia", + "Abnormal urine pH", + "Hyperchloremic metabolic acidosis", + "Bicarbonaturia", + "Hyperuricosuria", + "Low-molecular-weight proteinuria", + "Glycosuria", + "Generalized aminoaciduria", + "Proximal renal tubular acidosis" + ], + "has_phenotype_closure": [ + "UPHENO:0068495", + "UPHENO:0046286", + "UPHENO:0051930", + "UPHENO:0068091", + "HP:0031980", + "CHEBI:25806", + "HP:0032180", + "UPHENO:0004459", + "GO:0098771", + "CHEBI:50860", + "UPHENO:0001001", + "UPHENO:0081544", + "HP:0011015", + "UPHENO:0080555", + "UBERON:0000170", + "CHEBI:27226", + "HP:0004323", + "HP:0002206", + "UPHENO:0034438", + "UPHENO:0076299", + "UPHENO:0052008", + "HP:0012252", + "HP:0002088", + "PATO:0000001", + "UBERON:0001005", + "UPHENO:0087433", + "UBERON:0000475", + "HP:0012598", + "UPHENO:0068169", + "UBERON:0013522", + "UBERON:0001004", + "UBERON:0002075", + "CHEBI:22563", + "GO:0065007", + "GO:0033500", + "GO:0043229", + "UPHENO:0020584", + "UPHENO:0050619", + "GO:0065008", + "UPHENO:0086172", + "BFO:0000020", + "CHEBI:35281", + "UPHENO:0051640", + "UPHENO:0081546", + "UBERON:0034925", + "UBERON:0002048", + "GO:0042592", + "CHEBI:22984", + "CHEBI:26020", + "GO:0050878", + "CHEBI:33521", + "CHEBI:36586", + "HP:0011280", + "UPHENO:0051704", + "HP:0000083", + "UPHENO:0082794", + "HP:0011804", + "GO:0042593", + "UPHENO:0049873", + "CHEBI:18133", + "UPHENO:0004536", + "CL:0000000", + "UPHENO:0079536", + "UBERON:0003914", + "CHEBI:64709", + "UPHENO:0034149", + "UPHENO:0019970", + "UBERON:0013702", + "CHEBI:33304", + "HP:0010930", + "UBERON:0002390", + "UPHENO:0051739", + "UPHENO:0066943", + "UBERON:0011143", + "HP:0003076", + "UPHENO:0051847", + "UBERON:0005173", + "UBERON:0000916", + "HP:0000124", + "CHEBI:16646", + "UPHENO:0067999", + "UPHENO:0002832", + "HP:0002748", + "UBERON:0000463", + "CHEBI:16541", + "CHEBI:18282", + "HP:0003126", + "HP:0004325", + "CHEBI:35584", + "UPHENO:0002803", + "UBERON:0005172", + "UPHENO:0078555", + "HP:0012622", + "UBERON:0006555", + "UPHENO:0081547", + "CHEBI:25414", + "UBERON:0004122", + "UPHENO:0086132", + "UBERON:0004819", + "UBERON:0009773", + "UBERON:0007684", + "UBERON:0004211", + "CHEBI:83821", + "UPHENO:0000541", + "CHEBI:22313", + "HP:0000077", + "CHEBI:78616", + "UPHENO:0051763", + "HP:0006530", + "UPHENO:0066927", + "HP:0020129", + "UBERON:0004765", + "UBERON:0000467", + "CHEBI:33273", + "UPHENO:0054261", + "HP:0033127", + "UBERON:0001630", + "UPHENO:0002332", + "UPHENO:0078554", + "HP:0002150", + "HP:0011842", + "UPHENO:0068089", + "UPHENO:0075696", + "HP:0012599", + "HP:0003330", + "HP:0000924", + "UBERON:0002113", + "UPHENO:0052116", + "CHEBI:24835", + "UPHENO:0051668", + "CHEBI:33579", + "HP:0004360", + "HP:0001941", + "UPHENO:0051804", + "UPHENO:0066781", + "HP:0004912", + "CHEBI:35570", + "HP:0001871", + "GO:0032501", + "UBERON:0013701", + "UPHENO:0050433", + "UPHENO:0082539", + "UPHENO:0046344", + "UBERON:0000489", + "UBERON:0000465", + "CHEBI:33582", + "HP:0004348", + "CHEBI:23906", + "HP:0003774", + "HP:0004349", + "BFO:0000040", + "UBERON:0000179", + "CHEBI:33595", + "UPHENO:0081550", + "UPHENO:0068064", + "BFO:0000001", + "UBERON:0015212", + "HP:0012211", + "UBERON:0002204", + "UPHENO:0046348", + "UPHENO:0081440", + "UPHENO:0081548", + "UPHENO:0076703", + "UBERON:0000065", + "HP:0002653", + "CHEBI:33241", + "UPHENO:0084654", + "CHEBI:35568", + "UBERON:0000062", + "CHEBI:26401", + "HP:0003119", + "HP:0002086", + "GO:0001503", + "HP:0001510", + "CHEBI:25696", + "CHEBI:33302", + "UBERON:8450002", + "UPHENO:0084653", + "HP:0003287", + "UPHENO:0020748", + "HP:0004910", + "UPHENO:0051678", + "UBERON:0004111", + "GO:0043227", + "BFO:0000002", + "UPHENO:0000543", + "UPHENO:0051686", + "CHEBI:36915", + "UPHENO:0068036", + "UBERON:0001008", + "CHEBI:24833", + "CHEBI:26079", + "UBERON:0010000", + "CHEBI:33839", + "HP:0010996", + "CHEBI:33635", + "CHEBI:25384", + "CHEBI:36916", + "UPHENO:0079822", + "CHEBI:26469", + "UBERON:0011676", + "UPHENO:0076692", + "UPHENO:0002536", + "UBERON:0000178", + "UPHENO:0078646", + "UPHENO:0024906", + "HP:0000118", + "UPHENO:0051736", + "UBERON:0006314", + "HP:0040156", + "CHEBI:33559", + "UBERON:0001015", + "HP:0012606", + "GO:0006144", + "GO:0006629", + "UPHENO:0001005", + "UBERON:0000383", + "UPHENO:0051635", + "CHEBI:23367", + "HP:0003355", + "UPHENO:0076289", + "UPHENO:0082538", + "UPHENO:0080556", + "UBERON:0000174", + "HP:0002900", + "CHEBI:26082", + "CHEBI:35381", + "UBERON:0005181", + "HP:0010966", + "UPHENO:0080659", + "HP:0001939", + "GO:0040007", + "UBERON:0000468", + "UBERON:0005090", + "CHEBI:33917", + "HP:0002795", + "UBERON:0001434", + "UBERON:0001474", + "CHEBI:51151", + "UPHENO:0082875", + "UPHENO:0034276", + "GO:0019752", + "UBERON:0011216", + "UBERON:0005178", + "UPHENO:0068102", + "UPHENO:0082835", + "GO:0006631", + "UPHENO:0049874", + "UPHENO:0001002", + "GO:0008152", + "UPHENO:0078592", + "UPHENO:0050791", + "UBERON:0001088", + "UPHENO:0002964", + "HP:0000119", + "UPHENO:0082542", + "GO:0009112", + "CHEBI:36359", + "UBERON:0000025", + "CHEBI:33256", + "UPHENO:0051900", + "HP:0002049", + "HP:0011014", + "HP:0430071", + "CHEBI:36360", + "UBERON:0001062", + "UPHENO:0068491", + "CHEBI:33675", + "UBERON:0005177", + "HP:0011277", + "UPHENO:0046283", + "CHEBI:36357", + "UPHENO:0077821", + "GO:0044238", + "GO:0044281", + "CHEBI:37577", + "HP:0002749", + "HP:0001507", + "GO:0005975", + "HP:0000079", + "UPHENO:0002642", + "HP:0002909", + "CHEBI:33318", + "CHEBI:24431", + "HP:0003111", + "UBERON:0000483", + "UPHENO:0082543", + "UPHENO:0010795", + "UPHENO:0010763", + "UPHENO:0034391", + "UBERON:0004120", + "CHEBI:17234", + "UPHENO:0076294", + "HP:0001942", + "UPHENO:0086128", + "UBERON:0009569", + "HP:0000001", + "UPHENO:0054299", + "HP:0001824", + "HP:0003011", + "UPHENO:0002320", + "UBERON:0002100", + "UPHENO:0068134", + "HP:0001324", + "UPHENO:0079824", + "UBERON:0000064", + "BFO:0000003", + "PR:000050567", + "UPHENO:0068110", + "UBERON:0001231", + "UPHENO:0046284", + "HP:0001947", + "HP:0011849", + "GO:0055086", + "UBERON:0000479", + "CHEBI:36962", + "CHEBI:15693", + "CHEBI:72695", + "UPHENO:0050539", + "UPHENO:0049904", + "GO:0048878", + "UPHENO:0082834", + "CHEBI:17544", + "CHEBI:36963", + "UPHENO:0051186", + "UBERON:0000915", + "CHEBI:33285", + "UPHENO:0049628", + "CHEBI:33238", + "HP:0003149", + "UBERON:0002193", + "UPHENO:0051766", + "UPHENO:0050116", + "UPHENO:0076286", + "HP:0004354", + "HP:0011013", + "HP:0012603", + "UPHENO:0050342", + "CHEBI:18059", + "UPHENO:0051866", + "UPHENO:0046356", + "UPHENO:0051887", + "GO:0110165", + "UPHENO:0051709", + "CHEBI:35605", + "CHEBI:38166", + "CHEBI:26708", + "BFO:0000004", + "CHEBI:22314", + "HP:0012591", + "UPHENO:0034253", + "CHEBI:35406", + "HP:0002148", + "UPHENO:0050121", + "UPHENO:0050080", + "CHEBI:35573", + "UPHENO:0002411", + "GO:0050801", + "GO:0009987", + "UPHENO:0066739", + "UPHENO:0068296", + "UPHENO:0002816", + "UPHENO:0051937", + "UPHENO:0034351", + "CHEBI:33259", + "CHEBI:24870", + "UBERON:0002417", + "HP:0000093", + "HP:0012531", + "CHEBI:24867", + "CHEBI:25213", + "UPHENO:0034248", + "HP:0010932", + "HP:0100529", + "UPHENO:0034217", + "HP:0002157", + "HP:0033354", + "GO:0006725", + "UPHENO:0068538", + "HP:0004352", + "CHEBI:33608", + "CHEBI:35366", + "CHEBI:25810", + "HP:0000117", + "CHEBI:35875", + "HP:0004364", + "GO:0044237", + "GO:0008150", + "HP:0012072", + "HP:0012337", + "UPHENO:0068251", + "GO:0034641", + "GO:0046483", + "UBERON:0000061", + "GO:1901360", + "GO:1901564", + "GO:0006139", + "CHEBI:37175", + "UPHENO:0051688", + "GO:0005739", + "UPHENO:0051608", + "CHEBI:33832", + "CHEBI:33636", + "CHEBI:5686", + "HP:0004359", + "CHEBI:33655", + "UPHENO:0049748", + "UPHENO:0077826", + "CHEBI:51143", + "UPHENO:0051960", + "UPHENO:0078616", + "UPHENO:0051777", + "UPHENO:0068054", + "UPHENO:0086908", + "HP:0004369", + "CHEBI:16670", + "CHEBI:25699", + "CHEBI:35352", + "UPHENO:0068442", + "CHEBI:33674", + "UPHENO:0068058", + "HP:0003537", + "CHEBI:33692", + "CHEBI:36914", + "CHEBI:35571", + "UBERON:0003103", + "HP:0001943", + "GO:0072521", + "CHEBI:33250", + "CHEBI:25367", + "HP:0011042", + "UPHENO:0049587", + "BFO:0000015", + "CHEBI:33833", + "CHEBI:38101", + "CHEBI:27171", + "GO:0006807", + "CHEBI:33659", + "GO:0043436", + "CHEBI:24532", + "UPHENO:0082761", + "CHEBI:37622", + "CHEBI:33672", + "GO:0043231", + "UPHENO:0051588", + "CHEBI:33671", + "UPHENO:0049709", + "CHEBI:33245", + "UPHENO:0050113", + "CHEBI:60242", + "UPHENO:0006889", + "HP:0001944", + "CHEBI:22860", + "CHEBI:17126", + "GO:0071704", + "CHEBI:35284", + "UPHENO:0049723", + "HP:0010967", + "UPHENO:0050484", + "UPHENO:0084472", + "GO:0044255", + "GO:0006082", + "HP:0010935", + "GO:0005575", + "UPHENO:0002448", + "GO:0006575", + "GO:0032787", + "CHEBI:36587", + "CHEBI:29067", + "UPHENO:0078640", + "HP:0012103", + "UPHENO:0084537", + "GO:0005623", + "UPHENO:0082544", + "UPHENO:0051712", + "HP:0025354", + "HP:0001992", + "HP:0011017", + "UPHENO:0002442", + "UPHENO:0034199", + "GO:0043226", + "GO:0005737", + "GO:0005622", + "CHEBI:29103", + "UPHENO:0068040", + "CHEBI:25741", + "CHEBI:24651", + "UPHENO:0084541", + "UPHENO:0034319", + "HP:0011843", + "GO:0006577", + "CHEBI:36358", + "CHEBI:33575", + "CHEBI:28868", + "UPHENO:0015280", + "UPHENO:0075902", + "UPHENO:0048707", + "CHEBI:27369", + "CHEBI:35757", + "GO:0055062", + "UPHENO:0084542", + "GO:0009437", + "UPHENO:0068350", + "UPHENO:0051898", + "HP:0003081", + "UBERON:0000171", + "CHEBI:26216", + "UBERON:0004119", + "UPHENO:0051849", + "CHEBI:33296", + "UBERON:0001558", + "CHEBI:26217", + "CHEBI:37247", + "UPHENO:0051645", + "HP:0010929", + "UBERON:0000072", + "UPHENO:0051958", + "CHEBI:33504", + "HP:0002659", + "HP:0011279", + "HP:0025142", + "HP:0032943", + "HP:0001995", + "GO:0055080", + "HP:0004918", + "UPHENO:0001003", + "UPHENO:0068079", + "HP:0003646", + "HP:6000531", + "CHEBI:35604", + "HP:0011032", + "HP:0003110", + "UPHENO:0051659", + "UPHENO:0051619", + "UPHENO:0051714", + "HP:0003234", + "HP:0012610", + "UPHENO:0068024", + "UPHENO:0068247", + "CHEBI:32988", + "CHEBI:35552", + "CHEBI:15841", + "CHEBI:50047", + "UPHENO:0051801", + "UBERON:0001285", + "UPHENO:0068565", + "UPHENO:0080658", + "UPHENO:0049618", + "UPHENO:0068144", + "CHEBI:33709", + "UPHENO:0051670" + ], + "has_phenotype_closure_label": [ + "Proximal renal tubular acidosis", + "increased level of carboxylic acid in independent continuant", + "abnormal independent continuant amino acid level", + "abnormal mitochondrion", + "heteroorganic entity", + "abnormal metabolic process", + "excreta", + "organic oxo compound", + "molecular entity", + "abnormal homeostatic process", + "proximo-distal subdivision of respiratory tract", + "abnormal blood glucose level", + "Decreased plasma carnitine", + "abnormal chemical homeostasis", + "abnormal urine organic anion level", + "Abnormal blood glucose concentration", + "organonitrogen compound metabolic process", + "abnormal hematopoietic system", + "abnormal monocarboxylic acid metabolic process", + "thoracic cavity element", + "multicellular organism", + "respiratory airway", + "lung fibrosis", + "abnormal respiratory system", + "increased bodily fluid acid level", + "Bicarbonaturia", + "biological_process", + "increased bodily fluid role level", + "viscus", + "abnormal respiratory system morphology", + "monocarboxylic acid metabolic process", + "pair of lungs", + "regulation of biological quality", + "subdivision of tube", + "abnormality of multicellular organism mass", + "epithelial tube", + "abnormal anatomical entity morphology in the independent continuant", + "Abnormal lung morphology", + "oxygen molecular entity", + "organooxygen compound", + "Abnormality of fluid regulation", + "abnormal independent continuant phosphate level", "Abnormality of the skeletal system", - "abdominal segment of trunk", - "abnormal limb", - "abnormal arm", - "brain ventricle/choroid plexus", - "abnormal forelimb zeugopod bone", - "abnormal forelimb morphology", - "system", - "export from cell", - "abnormal biological_process in nervous system", - "abnormal limb bone morphology", - "abnormal forelimb zeugopod morphology", - "Aplasia/hypoplasia of the extremities", - "Polysplenia", - "decreased length of forelimb zeugopod bone", - "absent anatomical entity in the limb", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "Abnormality of the upper limb", - "entity", - "abnormal long bone morphology", - "Abnormal forearm bone morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "skeleton of pectoral complex", - "Abnormality of the nervous system", - "appendicular skeletal system", - "Eukaryota", - "forebrain", - "paired limb/fin segment", - "Aplasia/hypoplasia involving forearm bones", - "tube", - "abnormal digestive system morphology", - "decreased length of anatomical entity", - "decreased qualitatively biological_process in independent continuant", - "forelimb zeugopod bone hypoplasia", - "Eumetazoa", - "segment of autopod", - "abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the brain", - "zeugopod", - "spleen", - "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "Growth delay", - "forelimb skeleton", - "abnormal hormone blood level", - "abnormal head", - "regional part of nervous system", - "digit 1", - "forelimb bone", - "skeletal element", - "Abnormality of the head", - "endochondral bone", - "decreased length of anatomical entity in independent continuant", - "abnormal manus morphology", - "cell", - "phenotype by ontology source", - "forelimb long bone", - "Abnormality of the hypothalamus-pituitary axis", - "quality", - "forelimb zeugopod bone", - "vascular system", - "radius bone", - "arm", - "limb", + "lung", + "Hypercalciuria", + "haemolymphatic fluid", + "abnormal role urine level", + "s-block element atom", + "metal atom", + "uric acid", + "Stage 5 chronic kidney disease", + "Abnormal urinary electrolyte concentration", + "mesoderm-derived structure", + "non-functional anatomical entity", + "thoracic segment organ", + "delayed biological_process", + "oxoacid", + "abnormal role bodily fluid level", + "aldose", + "increased level of glucose in independent continuant", + "abnormal regulation of body fluid levels", + "excretory tube", + "Abnormal pulmonary interstitial morphology", + "Renal tubular acidosis", + "abdomen element", + "respiratory tract", + "organism subdivision", + "increased level of chemical entity", + "organic substance metabolic process", + "Abnormal cellular physiology", + "inorganic cation", + "abnormal urine calcium atom level", + "thoracic segment of trunk", + "increased level of amino acid in independent continuant", + "abnormally decreased functionality of the anatomical entity", + "inorganic molecular entity", + "protein-containing material entity", + "abnormal skeletal system morphology", + "Proteinuria", "lateral structure", - "immune system", - "decreased qualitatively biological_process", - "manual digit plus metapodial segment", - "Microcephaly", - "abnormal craniocervical region", - "limb skeleton subdivision", - "abnormal intestine morphology", - "Short forearm", - "bone of appendage girdle complex", - "anatomical entity hypoplasia in independent continuant", - "lymphatic part of lymphoid system", - "Neoplasm by anatomical site", - "Abnormality of limb bone", - "Aplasia/hypoplasia involving bones of the extremities", - "alimentary part of gastrointestinal system atresia", - "anatomical entity degeneration in independent continuant", - "axial skeletal system", - "Limb undergrowth", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "long bone", - "abnormal gland morphology", + "abnormal lipid metabolic process", + "endoderm-derived structure", + "trunk region element", "body proper", - "multicellular organism", - "increased size of the brain ventricle", - "Abnormality of brain morphology", - "abnormal anatomical entity length", - "abnormal size of skull", + "increased level of glucose in urine", + "purine", + "increased level of chemical entity in urine", + "increased level of chemical entity in bodily fluid", + "carboxylic acid metabolic process", + "organic aromatic compound", + "Renal tubular dysfunction", + "Abnormality of the respiratory system", + "Abnormality of the urinary system physiology", + "increased level of potassium atom in independent continuant", + "regulation of body fluid levels", + "abnormal blood chemical entity level", + "abnormal acid bodily fluid level", + "metabolic process", + "Decreased anatomical entity mass density", + "carbon group molecular entity", + "abnormal independent continuant chemical entity level", + "Weight loss", + "phosphorus oxoacid derivative", + "compound organ", + "kidney epithelium", + "Abnormal blood phosphate concentration", + "skeletal system", + "atom", + "genitourinary system", + "renal tubule", + "abnormality of anatomical entity mass", + "abnormality of respiratory system physiology", + "Decreased body weight", + "organ", + "occurrent", + "anatomical collection", + "polyatomic entity", + "abnormality of renal system physiology", + "monosaccharide", + "nucleobase-containing small molecule metabolic process", + "mancude organic heterobicyclic parent", + "respiratory system", + "abnormal sodium atom level", + "abnormal amino-acid betaine level", + "oxopurine", + "Decreased multicellular organism mass", + "abnormal independent continuant organic anion level", + "monoatomic entity", + "uriniferous tubule", + "abnormal upper urinary tract", + "abnormal cellular metabolic process", + "musculoskeletal system", + "carnitine", + "cytoplasm", + "Abnormality of urine homeostasis", + "organ system subdivision", + "Aminoaciduria", + "abnormal genitourinary system", + "Metabolic acidosis", + "blood", + "hydrides", + "increased level of potassium atom in urine", + "abdominal segment element", + "abnormal nitrogen compound metabolic process", + "Glycosuria", + "material entity", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "hematopoietic system", + "purines", + "abnormal purine nucleobase metabolic process", + "Abnormal respiratory system physiology", + "potassium molecular entity", + "Abnormal homeostasis", + "Abnormal muscle physiology", + "organochalcogen compound", + "Increased susceptibility to fractures", + "homeostatic process", + "abnormal carbohydrate metabolic process", + "p-block molecular entity", + "phosphorus oxoacids and derivatives", + "abnormal urine chemical entity level", + "monoatomic ion homeostasis", "Abnormality of the musculoskeletal system", - "manus", - "abnormal size of kidney", - "organ component layer", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal forebrain morphology", - "abnormal bone marrow morphology", - "organism subdivision", - "abnormal genitourinary system", - "abnormal axial skeleton plus cranial skeleton morphology", - "aplasia or hypoplasia of anatomical entity", - "organ system subdivision", - "process", - "brain", - "Megakaryocyte dysplasia", - "abnormal cerebral hemisphere white matter morphology", - "bone element hypoplasia in independent continuant", - "abnormal limb morphology", - "establishment of localization", - "bone of pectoral complex", - "delayed growth", - "organism", - "Gastrointestinal atresia", - "Metazoa", - "absent anatomical entity in the multicellular organism", - "anterior region of body", - "manual digit 1 plus metapodial segment", - "telencephalon", - "decreased qualitatively developmental process", - "limb long bone", - "appendage", - "abnormal hemopoietic organ morphology", - "white matter of forebrain", - "Hypoplasia of the radius", - "subdivision of tube", - "Opisthokonta", - "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal phosphate ion homeostasis", + "Abnormal renal physiology", + "abnormal skeletal system", + "nucleobase", + "increased level of carboxylic acid in urine", + "abnormal musculature", + "organ part", + "Muscle weakness", + "multicellular organismal process", + "abnormal blood phosphate level", + "obsolete cellular aromatic compound metabolic process", + "hemolymphoid system", + "hexose", "multicellular anatomical structure", - "endocrine system", - "skull", - "decreased size of the radius bone", - "occurrent", - "abnormal skeletal system morphology", - "anatomical collection", - "abnormal skull morphology", - "organ", - "organism substance", - "Aplasia/Hypoplasia involving the central nervous system", - "Abnormal pituitary gland morphology", - "axial skeleton plus cranial skeleton", - "limb endochondral element", - "anatomical entity", - "Hypopituitarism", + "Pulmonary fibrosis", + "carbohydrate metabolic process", + "abnormal lung morphology", + "alkaline earth metal atom", "Abnormal skeletal morphology", - "compound organ", - "autopod region", - "decreased size of the anatomical entity", - "musculoskeletal system", - "appendicular skeleton", - "Abnormal axial skeleton morphology", - "decreased biological_process in brain", - "abnormal nervous system", - "abnormal anatomical entity morphology", - "abnormal head morphology", - "head", - "Abnormal skull morphology", - "anatomical cluster", - "upper urinary tract", - "skeletal system", - "ectoderm-derived structure", - "abnormal craniocervical region morphology", - "abnormal autopod region morphology", - "digestive system element", - "abnormal size of anatomical entity", - "paired limb/fin skeleton", - "postcranial axial skeletal system", - "segmental subdivision of nervous system", - "Abnormality of the lymphatic system", - "absent anatomical entity in the forelimb", - "All", - "abnormal alimentary part of gastrointestinal system", - "abnormal limb bone", - "aplasia or hypoplasia of telencephalon", - "abnormal brain morphology", - "abnormal cell", + "abnormal glucose homeostasis", + "decreased level of phosphate in independent continuant", + "anatomical entity", "bone element", - "abnormal nervous system morphology", - "Abnormality of the digestive system", - "organ part", - "Abnormality of head or neck", - "hematopoietic cell", - "Decreased head circumference", - "abnormal small intestine morphology", - "abnormal hematopoietic system", - "cranial skeletal system", - "Abnormality of digestive system morphology", - "abnormal duodenum morphology", - "abnormal small intestine", - "abnormal transport", - "mesoderm-derived structure", - "abnormal digestive system", - "subdivision of digestive tract", - "digestive tract", - "regional part of brain", - "arm bone", + "excretory system", + "tube", + "decreased level of phosphate in blood", + "abnormal phosphate level", + "decreased level of chemical entity", + "abnormal anatomical entity", + "abnormal growth", + "All", + "Abnormal bone structure", + "organic cyclic compound", + "Hyperchloremic acidosis", + "abnormally decreased functionality of the nephron tubule", + "Abnormal cellular phenotype", + "abnormal bone element mass density", + "abnormality of anatomical entity physiology", + "Phenotypic abnormality", + "Abnormal circulating lipid concentration", + "Osteomalacia", + "Abnormality of the musculature", + "decreased role independent continuant level", + "ossification", + "abnormal independent continuant calcium atom level", + "Abnormal circulating metabolite concentration", + "increased independent continuant role level", + "entity", + "cavitated compound organ", + "skeletal element", + "Decreased bone element mass density", + "abnormal phenotype by ontology source", + "pnictogen molecular entity", + "subdivision of trunk", + "abnormal chemical entity level", + "Abnormality of metabolism/homeostasis", + "tissue", + "continuant", + "Abnormal circulating nucleobase concentration", + "protein polypeptide chain", + "nephron", + "Hypoglycemia", + "decreased level of carnitine in independent continuant", + "Chronic kidney disease", + "material anatomical entity", + "muscle structure", + "carbohydrate", + "renal system", + "lipid", + "Bicarbonate-wasting renal tubular acidosis", + "organism substance", + "cellular anatomical entity", + "aldohexose", + "subdivision of organism along main body axis", + "phosphoric acid derivative", + "abnormal renal system", + "abnormal independent continuant monoatomic ion level", + "abnormal small molecule metabolic process", + "phosphate", + "abnormal multicellular organism chemical entity level", + "alkali metal cation", + "abnormal role independent continuant level", + "metal cation", + "abnormal independent continuant glucose level", + "process", + "trunk", + "Abnormality of the urinary system", + "Aciduria", + "epithelium", + "abnormality of kidney physiology", + "main group molecular entity", + "heteroatomic molecular entity", + "increased level of calcium atom in independent continuant", + "increased independent continuant acid level", + "Dehydration", + "polyatomic ion", + "Renal insufficiency", + "nephron epithelium", + "Abnormality of body weight", + "growth", + "heteropolycyclic compound", + "anatomical entity dysfunction in independent continuant", + "muscle organ", + "dipolar compound", + "Increased urinary potassium", + "ammonium betaine", + "increased level of uric acid in independent continuant", + "increased independent continuant base level", + "Abnormality of the upper urinary tract", + "Bone pain", + "decreased anatomical entity strength", + "abnormal calcium atom level", + "musculature of body", "biological regulation", - "Myelodysplasia", - "Chiari malformation", + "abdominal segment of trunk", + "anatomical conduit", + "phosphorus molecular entity", "anatomical structure", + "organic ion", + "Abnormal circulating carbohydrate concentration", + "musculature", + "calcium atom", + "decreased role blood level", + "decreased muscle organ strength", + "bicyclic compound", + "cellular_component", + "abnormal monoatomic ion homeostasis", + "nephron tubule", + "hydrogen molecular entity", + "carbohydrate homeostasis", + "increased level of chemical entity in independent continuant", "Abnormality of blood and blood-forming tissues", - "abnormal pituitary gland morphology", - "multicellular organism development", - "abnormal forebrain morphology", - "hematopoietic system", - "Upper limb undergrowth", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "anatomical conduit", - "decreased embryo development", - "Abnormal duodenum morphology", - "abnormal bone of pectoral complex morphology", - "Abnormal renal morphology", - "Abnormality of limbs", - "abnormal alimentary part of gastrointestinal system morphology", - "root", - "abnormally formed anatomical entity", - "abnormal central nervous system morphology", - "abnormal independent continuant chemical entity level", + "upper urinary tract", + "Abnormal respiratory system morphology", + "Acidosis", + "Abnormal glucose homeostasis", + "abnormal urine phosphate level", + "bodily fluid", + "decreased anatomical entity mass", + "abdomen", + "Abnormal circulating organic compound concentration", + "increased level of calcium atom in urine", + "abnormal carbohydrate homeostasis", + "Abnormal urine metabolite level", + "primary metabolic process", + "glucose homeostasis", + "carbohydrates and carbohydrate derivatives", + "organic acid", + "abnormal metabolite independent continuant level", + "abnormal primary metabolic process", + "abnormal independent continuant sodium atom level", + "Renal sodium wasting", + "delayed growth", + "decreased level of carnitine in blood", + "oxoacid derivative", + "Abnormal urine sodium concentration", + "lower respiratory tract", + "abnormal independent continuant nitrogen molecular entity level", + "sodium atom", + "alkali metal atom", + "Abnormal musculoskeletal physiology", + "Abnormal urine potassium concentration", + "Hypophosphatemic rickets", + "Decreased anatomical entity mass", + "inorganic ion homeostasis", + "abnormal blood monoatomic ion level", + "Azotemia", + "intracellular anatomical structure", + "decreased level of uric acid in independent continuant", + "decreased level of chemical entity in blood", + "elemental molecular entity", + "ion", + "fatty acid", + "Abnormality of urine calcium concentration", + "organic cyclic compound metabolic process", + "Hypophosphatemia", + "Renal phosphate wasting", + "Abnormal circulating monocarboxylic acid concentration", + "decreased level of chemical entity in independent continuant", + "Abnormality of mitochondrial metabolism", + "phosphate ion homeostasis", + "Abnormal blood ion concentration", + "increased level of chemical entity in blood", + "Abnormal urine phosphate concentration", + "organic hydride", + "Abnormality of urinary uric acid level", + "aromatic compound", + "nitrogen molecular entity", + "polycyclic compound", + "s-block molecular entity", + "abnormal nucleobase metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "obsolete heterocycle metabolic process", + "small molecule metabolic process", + "nucleobase-containing compound metabolic process", + "Abnormal circulating purine concentration", + "Abnormal urine protein level", + "abnormal cellular process", + "Abnormal circulating carnitine concentration", + "mancude ring", + "elemental potassium", + "cellular process", + "amino-acid betaine", + "increased level of organic acid in urine", + "Hypouricemia", + "Decreased circulating purine concentration", "anatomical system", - "Abnormality of the abdominal organs", - "abnormal role independent continuant level", - "specifically dependent continuant", - "abnormal closing of the anatomical entity", - "material entity", - "Abnormal forearm morphology", - "material anatomical entity", - "craniocervical region", - "abnormal bone marrow cell", - "Neoplasm", - "Abnormality of the gastrointestinal tract", - "aplasia or hypoplasia of skeleton", - "independent continuant", - "abnormally increased number of anatomical entity", - "limb segment", - "appendage girdle complex", - "duodenum atresia", - "structure with developmental contribution from neural crest", - "Abnormal long bone morphology", - "small intestine", - "abnormal anatomical entity", - "paired limb/fin", - "Morphological central nervous system abnormality", - "alimentary part of gastrointestinal system", - "Intestinal atresia", - "abnormal developmental process", - "Duodenal atresia", - "genitourinary system", - "Abnormal small intestine morphology", - "abnormal manus", - "upper limb segment", - "duodenum", - "abnormal manual digit morphology in the independent continuant", - "anatomical entity atresia", - "digestive system", - "organ subunit", - "Abnormal cerebral morphology", - "intestine", - "abnormal role bodily fluid level", - "Abnormal intestine morphology", - "abnormal renal system morphology", + "mitochondrion", + "abnormal independent continuant carnitine level", + "Hypokalemia", + "Abnormality of the genitourinary system", + "organic heterocyclic compound", + "heterobicyclic compound", + "increased level of purines in independent continuant", + "organonitrogen compound", + "abnormal independent continuant potassium(1+) level", + "respiration organ", + "abnormality of muscle organ physiology", + "organic molecule", + "cyclic compound", + "mancude organic heterocyclic parent", + "abnormal independent continuant uric acid level", + "abnormal blood carnitine level", + "cellular metabolic process", + "obsolete nitrogen compound metabolic process", + "phenotype", + "decreased level of potassium atom in independent continuant", + "nucleobase metabolic process", + "main group element atom", + "molecule", + "abnormal biological_process", + "kidney", + "Growth delay", + "organic mancude parent", + "heteroarene", + "organic molecular entity", + "abnormal anatomical entity mass density", + "increased level of organic molecular entity in independent continuant", + "organic heteropolycyclic compound", + "organonitrogen heterocyclic compound", + "non-functional kidney", + "heterocyclic organic fundamental parent", + "chemical entity", + "Abnormal circulating carboxylic acid concentration", + "Reduced bone mineral density", + "abnormal blood nitrogen molecular entity level", + "Abnormality of the kidney", + "abnormal independent continuant carbohydrate level", + "decreased level of purines", + "cation", + "purine nucleobase metabolic process", + "amino acid", + "decreased level of uric acid in blood", + "decreased multicellular organism mass", + "abnormal blood uric acid level", + "phenotype by ontology source", + "oxoanion", + "carboxylic acid anion", + "monocarboxylic acid", + "cellular lipid metabolic process", + "cellular modified amino acid metabolic process", + "organic fundamental parent", + "organic acid metabolic process", + "lipid metabolic process", + "abnormal cell", + "heterocyclic compound", + "Abnormal circulating fatty-acid anion concentration", + "abnormal fatty acid metabolic process", + "abnormal cellular_component", + "abnormal role blood level", + "organelle", + "abnormal carboxylic acid metabolic process", + "zwitterion", + "carbonyl compound", + "monocarboxylic acid anion", + "purine-containing compound metabolic process", + "carbon oxoacid", + "obsolete cell", + "Abnormal blood potassium concentration", + "Abnormal circulating nitrogen compound concentration", + "intracellular membrane-bounded organelle", + "oxide", + "polyatomic anion", + "glucose", + "fatty acid anion", + "organic anion", + "hydroxides", + "fatty acid metabolic process", + "organic heterobicyclic compound", + "Abnormality of bone mineral density", + "hydrogencarbonate", + "oxoacid metabolic process", + "abnormal urine sodium atom level", + "carboxamide", + "Generalized aminoaciduria", + "amino-acid betaine metabolic process", + "intracellular organelle", + "membrane-bounded organelle", + "anion", + "quality", + "abnormal amino acid derivative level", + "carboxylic acid", + "onium betaine", + "Abnormal urine carboxylic acid level", + "Abnormal circulating fatty-acid concentration", + "Abnormality of acid-base homeostasis", + "urine", + "quaternary nitrogen compound", + "increased level of monosaccharide in independent continuant", + "Hyperchloremic metabolic acidosis", + "amino acid derivative", + "abnormal carnitine metabolic process", + "decreased level of amino-acid betaine", + "Abnormality of the mitochondrion", + "primary amide", + "carnitine metabolic process", + "cell", + "Abnormal bone ossification", + "abnormal urine potassium atom level", + "chalcogen molecular entity", + "abnormal potassium atom level", + "abnormal independent continuant potassium atom level", + "chemical homeostasis", + "main body axis", + "potassium atom", + "monovalent inorganic cation", + "monoatomic monocation", + "abnormal urine hydrogencarbonate level", + "alkali metal molecular entity", + "abnormal kidney", + "Abnormal blood cation concentration", + "abnormal blood potassium atom level", + "increased level of nitrogen molecular entity in blood", + "abnormal monoatomic cation homeostasis", + "abnormal blood potassium(1+) level", + "polypeptide", + "decreased level of potassium atom in blood", + "potassium(1+)", + "monoatomic cation", + "Abnormal blood monovalent inorganic cation concentration", + "monoatomic cation homeostasis", + "inorganic ion", "Growth abnormality", - "skeleton of limb", - "nervous system", - "hemolymphoid system", - "decreased length of long bone", - "Cerebellar malformation", - "postcranial axial skeleton", - "gland", - "abnormal postcranial axial skeleton morphology", - "abnormal telencephalon morphology", - "reproductive gland", - "abnormal phenotype by ontology source" + "abnormality of musculoskeletal system physiology", + "abnormal independent continuant carboxylic acid level", + "carbon oxoanion", + "Constitutional symptom", + "anatomical entity fibrosis", + "Pain", + "independent continuant", + "Abnormal urine pH", + "abnormal independent continuant hydrogencarbonate level", + "Abnormality of urine bicarbonate level", + "imidazopyrimidine", + "increased level of hydrogencarbonate in independent continuant", + "increased level of hydrogencarbonate in urine", + "abnormal hydrogencarbonate level", + "Abnormal urinary organic compound level", + "Rickets", + "increased level of nitrogen molecular entity in independent continuant", + "abnormal urine uric acid level", + "Hyperuricosuria", + "increased level of amino acid in urine", + "increased level of uric acid in urine", + "peptide", + "increased level of protein polypeptide chain in independent continuant", + "amide", + "Low-molecular-weight proteinuria", + "abnormal independent continuant protein polypeptide chain level", + "increased level of protein polypeptide chain in urine", + "macromolecule", + "abnormal acid independent continuant level", + "organic amino compound", + "abnormal urine glucose level", + "increased level of monosaccharide in urine", + "increased level of organic acid in independent continuant", + "Elevated urinary carboxylic acid", + "monoatomic ion", + "abnormal urine amino acid level", + "Organic aciduria", + "abnormal amino acid level" ], - "has_phenotype_count": 16, + "has_phenotype_count": 29, "highlight": null, "score": null }, { - "id": "MONDO:0010953", + "id": "MONDO:0013247", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group E", + "name": "Fanconi renotubular syndrome 2", "full_name": null, "deprecated": null, - "description": "Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.", - "xref": [ - "DOID:0111084", - "GARD:15324", - "NCIT:C125709", - "OMIM:600901", - "UMLS:C3160739" - ], + "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.", + "xref": ["DOID:0080758", "GARD:15655", "OMIM:613388", "UMLS:C3150652"], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, "symbol": null, "synonym": [ - "FANCE", - "FANCE Fanconi anaemia", - "FANCE Fanconi anemia", - "Fanconi Anemia, complementation group type E", - "Fanconi anaemia caused by mutation in FANCE", - "Fanconi anaemia complementation group type E", - "Fanconi anemia caused by mutation in FANCE", - "Fanconi anemia complementation group E", - "Fanconi anemia complementation group type E", - "Fanconi anemia, complementation group E", - "face" + "FRTS2", + "Fanconi renotubular syndrome 2", + "Fanconi renotubular syndrome type 2", + "Fanconi syndrome caused by mutation in SLC34A1", + "SLC34A1 Fanconi syndrome" ], "uri": null, "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0001875", - "HP:0001249", - "HP:0000086", - "HP:0000252", - "HP:0000953", - "HP:0000081", - "HP:0003214", - "HP:0000815", - "HP:0009777", - "HP:0000104", - "HP:0001017", - "HP:0001876", - "HP:0000028", - "HP:0003974", - "HP:0001873", - "HP:0009778", - "HP:0001896", - "HP:0000568", - "HP:0001518", - "HP:0001263", - "HP:0003221", - "HP:0009943", - "HP:0000978", - "HP:0001627", - "HP:0000957", - "HP:0001903", - "HP:0001909", + "HP:0002749", + "HP:0000117", + "HP:0002148", + "HP:0000114", + "HP:0002757", + "HP:0002748", + "HP:0000938", + "HP:0002909", + "HP:0031415", + "HP:0000093", + "HP:0003076", + "HP:0003165", "HP:0004322", - "HP:0000486", - "HP:0000365", - "HP:0003213", - "HP:0000085" + "HP:0002653", + "HP:0012213", + "HP:0000083", + "HP:0002150" ], "has_phenotype_label": [ - "Neutropenia", - "Intellectual disability", - "Ectopic kidney", - "Microcephaly", - "Hyperpigmentation of the skin", - "Duplicated collecting system", - "Prolonged G2 phase of cell cycle", - "Hypergonadotropic hypogonadism", - "Absent thumb", - "Renal agenesis", - "Anemic pallor", - "Pancytopenia", - "Cryptorchidism", - "Absent radius", - "Thrombocytopenia", - "Short thumb", - "Reticulocytopenia", - "Microphthalmia", - "Small for gestational age", - "Global developmental delay", - "Chromosomal breakage induced by crosslinking agents", - "Complete duplication of thumb phalanx", - "Bruising susceptibility", - "Abnormal heart morphology", - "Cafe-au-lait spot", - "Anemia", - "Leukemia", + "Osteomalacia", + "Renal phosphate wasting", + "Hypophosphatemia", + "Proximal tubulopathy", + "Recurrent fractures", + "Rickets", + "Osteopenia", + "Generalized aminoaciduria", + "High serum calcitriol", + "Proteinuria", + "Glycosuria", + "Elevated circulating parathyroid hormone level", "Short stature", - "Strabismus", - "Hearing impairment", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Horseshoe kidney" + "Bone pain", + "Decreased glomerular filtration rate", + "Renal insufficiency", + "Hypercalciuria" ], "has_phenotype_closure": [ - "UPHENO:0041075", - "UPHENO:0041465", - "UPHENO:0082129", - "UPHENO:0041629", - "HP:0003254", - "GO:0051716", - "UPHENO:0049671", - "GO:0006974", - "HP:0000364", - "UPHENO:0052970", - "UBERON:0002105", - "UPHENO:0005518", - "UPHENO:0002240", - "UBERON:0000015", - "UPHENO:0080300", - "UPHENO:0079826", - "UPHENO:0049586", - "HP:0000496", - "BFO:0000141", - "NBO:0000001", - "NBO:0000338", - "UPHENO:0079828", - "UPHENO:0080351", + "HP:0002150", + "UPHENO:0051678", + "UPHENO:0068134", + "UPHENO:0046344", + "HP:0011280", + "HP:0025142", + "GO:0040007", + "HP:0004322", + "UPHENO:0081424", + "UPHENO:0086132", + "UPHENO:0075195", + "UPHENO:0049874", + "UPHENO:0020584", + "UPHENO:0069254", + "UPHENO:0000541", "UPHENO:0075159", - "UPHENO:0080352", - "HP:0002664", - "HP:0011793", - 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+ "CHEBI:64709", + "HP:0000002", + "HP:0002157", + "HP:0033354", + "UPHENO:0051612", + "UPHENO:0068089", + "UPHENO:0068058", + "UPHENO:0068313", + "CHEBI:33674", + "UPHENO:0076289", + "CHEBI:33575", + "CHEBI:50047", + "CHEBI:33521", + "UPHENO:0082541", + "CHEBI:36586", + "UPHENO:0068102", + "UPHENO:0000543", + "HP:0003076", + "CHEBI:27300", + "UPHENO:0048711", + "UPHENO:0049873", + "UPHENO:0001001", + "GO:0044238", + "UPHENO:0068251", + "GO:0006629", + "GO:1901615", + "UBERON:0000178", + "GO:0006766", + "UPHENO:0051680", + "UBERON:0015204", + "CHEBI:33822", + "UPHENO:0081547" + ], + "has_phenotype_closure_label": [ + "Hypercalciuria", + "alkaline earth metal atom", + "atom", + "s-block element atom", + "main group element atom", + "Abnormality of urine calcium concentration", + "increased level of calcium atom in independent continuant", + "abnormal calcium atom level", + "Renal insufficiency", + "non-functional kidney", + "Decreased glomerular filtration rate", + "Abnormal glomerular filtration rate", + "Pain", + "Constitutional symptom", + "growth", + "Growth delay", + "Abnormality of body height", + "abnormal urine calcium atom level", + "decreased size of the anatomical entity in the independent continuant", + "metal atom", + "abnormality of anatomical entity height", + "Growth abnormality", + "delayed growth", + "abnormal anatomical entity morphology in the independent continuant", + "decreased height of the multicellular organism", + "abnormal blood parathyroid hormone level", + "Hyperproteinemia", + "Abnormal circulating organic amino compound concentration", + "protein", + "increased level of parathyroid hormone in independent continuant", + "parathyroid hormone", + "blood plasma", + "increased level of calcium atom in urine", + "abnormal blood protein polypeptide chain level", + "Elevated circulating parathyroid hormone level", + "Abnormal circulating nitrogen compound concentration", + "increased level of protein in blood", + "Alkalosis", + "increased level of nitrogen molecular entity in blood", + "Abnormality of acid-base homeostasis", + "calcium atom", + "increased blood serum role level", + "increased level of chemical entity in blood serum", + "abnormal independent continuant protein level", + "abnormal role blood serum level", + "abnormal blood serum chemical entity level", + "abnormal acid bodily fluid level", + "increased level of protein", + "blood serum", + "Acute phase response", + "increased level of glucose in independent continuant", + "increased level of monosaccharide in urine", + "Abnormal urinary organic compound level", + "abnormal independent continuant glucose level", + "aldohexose", + "glucose", + "aldose", + "hexose", + "abnormal urine glucose level", + "abnormal independent continuant carbohydrate level", + "monosaccharide", + "macromolecule", + "increased level of protein polypeptide chain in urine", + "abnormal independent continuant protein polypeptide chain level", + "amide", + "increased level of protein polypeptide chain in independent continuant", + "peptide", + "Abnormal metabolism", + "decreased height of the anatomical entity", + "abnormal metabolite independent continuant level", + "hydroxy seco-steroid", + "vitamin D metabolic process", + "steroid metabolic process", + "small molecule metabolic process", + "abnormal hormone independent continuant level", + "abnormal independent continuant calcium atom level", + "abnormal independent continuant parathyroid hormone level", + "abnormal vitamin metabolic process", + "steroid", + "cyclic compound", + "Abnormal circulating hormone concentration", + "abnormal role blood level", + "main body axis", + "organism substance", + "primary amide", + "elemental molecular entity", + "Hypophosphatemia", + "monoatomic ion", + "increased blood role level", + "Abnormality of vitamin D metabolism", + "abnormal homeostatic process", + "decreased level of chemical entity in blood", + "phenotype by ontology source", + "abnormal blood chemical entity level", + "monoatomic entity", + "abnormal acid independent continuant level", + "abnormal urine phosphate level", + "abdomen element", + "protein-containing molecular entity", + "Abnormal circulating organic compound concentration", + "increased level of vitamin D", + "abnormal blood plasma chemical entity level", + "inorganic ion homeostasis", + "Reduced bone mineral density", + "abnormal monoatomic ion homeostasis", + "Abnormality of metabolism/homeostasis", + "non-functional anatomical entity", + "Osteopenia", + "increased level of monosaccharide in independent continuant", + "D3 vitamins", + "chemical entity", + "polyol", + "increased independent continuant acid level", + "heteroatomic molecular entity", + "main group molecular entity", + "abnormality of kidney physiology", + "abnormal chemical homeostasis", + "abnormal independent continuant lipid level", + "phosphorus molecular entity", + "oxoacid derivative", + "trunk", + "abnormality of musculoskeletal system physiology", + "abnormal bone element mass density", + "abnormal multicellular organism chemical entity level", + "phosphate", + "non-connected functional system", + "calcitriol", + "subdivision of organism along main body axis", + "decreased size of the anatomical entity", + "blood", + "phosphate ion homeostasis", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "increased level of chemical entity in blood", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "lipid", + "material anatomical entity", + "nephron", + "protein polypeptide chain", + "continuant", + "amino acid chain", + "tissue", + "subdivision of trunk", + "abnormal phenotype by ontology source", + "increased level of lipid in independent continuant", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "chemical homeostasis", + "skeletal element", + "cavitated compound organ", + "increased level of lipid in blood", + "increased level of parathyroid hormone in blood serum", + "Abnormal circulating protein concentration", + "entity", + "abnormal blood lipid level", + "information biomacromolecule", + "Glycosuria", + "Abnormal bone ossification", + "abdominal segment element", + "abnormal anatomical entity mass density", + "epithelium", + "abnormality of anatomical entity physiology", + "abnormally decreased functionality of the nephron tubule", + "anatomical system", + "All", + "decreased level of chemical entity in independent continuant", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "abnormal growth", + "independent continuant", + "abnormal anatomical entity", + "abnormal independent continuant nitrogen molecular entity level", + "abnormal independent continuant monoatomic ion level", + "excretory system", + "abnormal size of multicellular organism", + "bone element", + "anatomical entity", + "multicellular anatomical structure", + "increased blood serum base level", + "abnormal blood phosphate level", + "multicellular organismal process", + "organ part", + "Abnormal musculoskeletal physiology", + "anatomical entity dysfunction in independent continuant", + "haemolymphatic fluid", + "abnormal skeletal system", + "abnormal blood nitrogen molecular entity level", + "increased level of lipid", + "organic hydroxy compound metabolic process", + "Alkalemia", + "Proteinuria", + "protein-containing material entity", + "abnormal skeletal system morphology", + "abnormal protein level", + "abnormal phosphate ion homeostasis", + "Abnormality of the musculoskeletal system", + "monoatomic ion homeostasis", + "abnormal urine chemical entity level", + "organic cyclic compound metabolic process", + "ion", + "biomacromolecule", + "p-block molecular entity", + "triol", + "increased level of amino acid in independent continuant", + "homeostatic process", + "Abnormal homeostasis", + "Increased susceptibility to fractures", + "organochalcogen compound", + "urine", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "material entity", + "organic amino compound", + "polypeptide", + "Abnormality of bone mineral density", + "anatomical structure", + "anatomical conduit", + "Azotemia", + "abnormal blood monoatomic ion level", + "Abnormal urine metabolite level", + "process", + "fat-soluble vitamin metabolic process", + "nephron tubule", + "hydrogen molecular entity", + "abnormal role independent continuant level", + "abnormal genitourinary system", + "Aminoaciduria", + "organ system subdivision", + "increased level of calcitriol in independent continuant", + "musculoskeletal system", + "abnormal upper urinary tract", + "uriniferous tubule", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "Organic aciduria", + "increased level of protein in independent continuant", + "renal system", + "phenotype", + "Abnormal bone structure", + "organic cyclic compound", + "Abnormality of the genitourinary system", + "abnormal independent continuant amino acid level", + "phosphoric acid derivative", + "abnormality of renal system physiology", + "quality", + "carbon oxoacid", + "multicellular organism", + "hematopoietic system", + "abnormal role bodily fluid level", + "abnormal biological_process", + "Recurrent fractures", + "carbonyl compound", + "polyatomic entity", + "abnormal chemical entity level", + "Abnormality of the skeletal system", + "abnormal independent continuant phosphate level", + "Elevated urinary carboxylic acid", + "pnictogen molecular entity", + "occurrent", + "organ", + "delayed biological_process", + "Osteomalacia", + "oxoacid", + "carbohydrate", + "increased bodily fluid role level", + "biological_process", + "renal tubule", + "Hyperlipidemia", + "abnormal vitamin D level", + "genitourinary system", + "skeletal system", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "abnormal independent continuant chemical entity level", + "carbon group molecular entity", + "Abnormal circulating calcium-phosphate regulating hormone concentration", + "bodily fluid", + "seco-steroid", + "metabolic process", + "Bone pain", + "Abnormality of the upper urinary tract", + "Abnormal blood phosphate concentration", + "phosphorus oxoacids and derivatives", + "kidney epithelium", + "compound organ", + "epithelial tube", + "abdomen", + "abdominal segment of trunk", + "Renal tubular dysfunction", + "abnormal kidney", + "increased bodily fluid base level", + "increased level of glucose in urine", + "body proper", + "trunk region element", + "nephron epithelium", + "lateral structure", + "Proximal tubulopathy", + "organism subdivision", + "tube", + "excretory tube", + "Abnormality of urine homeostasis", + "upper urinary tract", + "abnormal hematopoietic system", + "abnormal independent continuant carboxylic acid level", + "Renal phosphate wasting", + "abnormal endocrine system", + "kidney", + "hemolymphoid system", + "Rickets", + "increased level of organic acid in independent continuant", + "Abnormal urine phosphate concentration", + "increased level of carboxylic acid in urine", + "increased level of chemical entity in blood plasma", + "s-block molecular entity", + "amino acid", + "molecule", + "increased level of nitrogen molecular entity in independent continuant", + "increased level of organic acid in urine", + "carboxamide", + "Generalized aminoaciduria", + "Short stature", + "abnormally decreased functionality of the anatomical entity", + "endocrine system", + "increased level of chemical entity in independent continuant", + "Abnormal urine pH", + "carboxylic acid", + "organic polycyclic compound", + "Abnormal renal physiology", + "chalcogen molecular entity", + "abnormal urine amino acid level", + "nitrogen molecular entity", + "abnormal vitamin D metabolic process", + "Abnormality of the urinary system physiology", + "hydroxycalciol", + "increased independent continuant hormone level", + "increased independent continuant base level", + "Abnormality of the urinary system", + "Aciduria", + "organic molecule", + "abnormal size of anatomical entity", + "abnormal amino acid level", + "increased level of organic molecular entity in independent continuant", + "abnormality of multicellular organism height", + "decreased level of chemical entity", + "abnormal phosphate level", + "Abnormal urine carboxylic acid level", + "primary metabolic process", + "glandular system", + "organic molecular entity", + "increased level of chemical entity in urine", + "increased level of amino acid in urine", + "increased level of chemical entity in bodily fluid", + "abnormal role urine level", + "organic substance metabolic process", + "High serum calcitriol", + "increased level of chemical entity", + "organonitrogen compound", + "organooxygen compound", + "heteroorganic entity", + "Abnormal circulating metabolite concentration", + "ossification", + "organic acid", + "hydroxides", + "oxygen molecular entity", + "increased independent continuant role level", + "increased level of carboxylic acid in independent continuant", + "Abnormal urine protein level", + "abnormal hormone blood level", + "polycyclic compound", + "carbohydrates and carbohydrate derivatives", + "organic hydroxy compound", + "abnormal small molecule metabolic process", + "abnormal renal system", + "vitamin D", + "lipid metabolic process", + "vitamin metabolic process", + "disconnected anatomical group", + "Abnormality of the kidney", + "abnormal lipid metabolic process", + "Abnormality of the endocrine system", + "Abnormality of vitamin metabolism", + "abnormal primary metabolic process", + "increased level of calcitriol in blood", + "Phenotypic abnormality", + "Abnormal circulating lipid concentration", + "excreta", + "organic oxo compound", + "abnormal metabolic process", + "abnormal lipid level", + "increased level of parathyroid hormone in blood", + "hydroxy steroid" + ], + "has_phenotype_count": 17, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0014275", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 3", + "full_name": null, + "deprecated": null, + "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.", + "xref": ["DOID:0080759", "GARD:15991", "OMIM:615605", "UMLS:C3810100"], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [ + "EHHADH Fanconi syndrome", + "FRTS3", + "Fanconi renotubular syndrome 3", + "Fanconi renotubular syndrome type 3", + "Fanconi syndrome caused by mutation in EHHADH" + ], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0001942", + "HP:0001510", + "HP:0003259", + "HP:0003109", + "HP:0002748", + "HP:0002979", + "HP:0003076", + "HP:0000083", + "HP:0004322", + "HP:0003355", + "HP:0003126" + ], + "has_phenotype_label": [ + "Metabolic acidosis", + "Growth delay", + "Elevated circulating creatinine concentration", + "Hyperphosphaturia", + "Rickets", + "Bowing of the legs", + "Glycosuria", + "Renal insufficiency", + "Short stature", + "Aminoaciduria", + "Low-molecular-weight proteinuria" + ], + "has_phenotype_closure": [ + "UPHENO:0068565", + "UPHENO:0051801", + "CHEBI:15841", + "HP:0000093", + "CHEBI:16541", + "UPHENO:0068247", + "CHEBI:16670", + "UPHENO:0068169", + "CHEBI:36586", + "UPHENO:0068495", + "CHEBI:50047", + "CHEBI:33575", + "CHEBI:24651", + "UPHENO:0046286", + "UPHENO:0051930", + "HP:0003355", + "CHEBI:36587", + "UPHENO:0068091", + "HP:0031980", + "UPHENO:0051670", + "HP:0012072", + "HP:0032943", + "CHEBI:33709", + "UPHENO:0081424", + "UPHENO:0069254", + "UPHENO:0075159", + "UPHENO:0068971", + "UBERON:0002113", + "UBERON:0011143", + "UBERON:0005173", + "UBERON:0000916", + "UPHENO:0075195", + "UPHENO:0086132", + "UBERON:0000489", + "HP:0012211", + "UBERON:0009569", + "UBERON:0013701", + "UBERON:0011676", + "UPHENO:0075902", + "CHEBI:33674", + "UPHENO:0068058", + "HP:0000077", + "CHEBI:78616", + "UPHENO:0052116", + "CHEBI:17234", + "CHEBI:35381", + "CHEBI:18133", + "UPHENO:0081544", + "CHEBI:15693", + "UPHENO:0041258", + "HP:6000531", + "UPHENO:0068352", + "UPHENO:0079534", + "CHEBI:50860", + "CHEBI:23443", + "CHEBI:24532", + "CHEBI:37622", + "UPHENO:0001001", + "CHEBI:16646", + "CHEBI:38304", + "UPHENO:0068064", + "CHEBI:72695", + "GO:0008150", + "UBERON:0002193", + "CHEBI:33675", + "UPHENO:0002332", + "UPHENO:0078554", "UPHENO:0076740", - "UPHENO:0049587", - "UBERON:0002470", - "UPHENO:0051124", - "UPHENO:0069254", - "UBERON:0004710", - "UBERON:0008785", - "HP:0001892", - "UBERON:0001440", - "UPHENO:0002905", - "UPHENO:0080325", - "UBERON:0004381", - "UBERON:0012140", - "UPHENO:0086635", - "UPHENO:0026183", - "UBERON:0011676", - "UPHENO:0084766", - "UBERON:0002097", - "HP:0007364", + "UPHENO:0082467", + "HP:0012100", + "CHEBI:32988", + "UPHENO:0002411", + "HP:0002981", + "CHEBI:35352", + "UPHENO:0077826", + "CHEBI:38101", + "UPHENO:0081550", + "UPHENO:0041573", + "UPHENO:0076703", + "CHEBI:33661", + "UPHENO:0001002", + "GO:0008152", + "CHEBI:36962", "UPHENO:0002830", - "UPHENO:0002880", - "UBERON:0002091", - "UBERON:0004176", - "UBERON:0002428", - "UBERON:0007272", - "UPHENO:0005651", - "UPHENO:0053588", - "UBERON:0002102", - "UPHENO:0050021", - "UPHENO:0002964", - "UBERON:0002544", + "UPHENO:0080351", + "UPHENO:0076286", + "UPHENO:0068049", + "CHEBI:51143", + "UPHENO:0051640", + "UPHENO:0081546", + "HP:0004360", + "HP:0430071", + "BFO:0000020", + "UPHENO:0068491", + "UPHENO:0012541", + "CHEBI:36360", + "UPHENO:0051763", + "UPHENO:0041098", + "UPHENO:0078550", + "HP:0004364", + "BFO:0000004", + "UPHENO:0051753", + "UPHENO:0068346", + "UPHENO:0051894", "UPHENO:0086956", - "UPHENO:0085144", - "HP:0002977", - "UBERON:5002389", - "UPHENO:0018390", - "UBERON:0010708", + "CHEBI:36963", + "UPHENO:0068442", + "CHEBI:24995", + "CHEBI:38261", + "UPHENO:0082542", + "HP:0000119", + "UPHENO:0051635", + "UBERON:0001977", + "UBERON:0000178", + "HP:0000118", + "UPHENO:0068089", + "UPHENO:0001005", + "CHEBI:33832", + "UBERON:0000468", "HP:0000002", - "HP:0011842", - "HP:0001017", - "UPHENO:0088321", - "UPHENO:0076724", - "HP:0001155", - "UPHENO:0049940", - "NCBITaxon:1", - "UPHENO:0008523", - "UPHENO:0087006", - "UPHENO:0087510", - "UPHENO:0086633", - "UBERON:0002371", - "HP:0000077", - "UPHENO:0080114", - "UBERON:0001474", - "CL:0000255", - "HP:0000818", - "UBERON:0000990", - "UPHENO:0050625", - "UPHENO:0074589", - "UPHENO:0066927", + "HP:0033354", + "HP:0002157", + "CHEBI:55370", + "UBERON:8450002", + "UPHENO:0081547", + "HP:0012337", + "HP:0032180", + "UPHENO:0082536", + "HP:0001992", + "UBERON:0002390", + "UBERON:0010000", + "UBERON:0010363", + "HP:0001942", + "UPHENO:0076692", + "UPHENO:0002536", + "HP:0006487", + "UPHENO:0068538", + "UBERON:0004120", + "HP:0040064", + "UPHENO:0068144", + "UBERON:0010707", + "UPHENO:0002964", + "UBERON:0002101", + "UPHENO:0086128", + "UPHENO:0049587", + "CHEBI:33595", + "CHEBI:24431", "UPHENO:0000541", - "UPHENO:0087339", - "UPHENO:0075220", - "UPHENO:0003055", + "CHEBI:33285", + "CHEBI:25367", + "UPHENO:0076727", + "UPHENO:0079873", + "UPHENO:0001003", + "UPHENO:0031193", + "GO:0040007", + "CHEBI:33582", + "UBERON:0000465", + "UPHENO:0082539", "PR:000050567", - "HP:0000080", - "UBERON:0006800", - "GO:0006325", - "CL:0002242", - "HP:0000078", - "UPHENO:0053644", - "HP:0009601", - "GO:0051319", - "GO:0051325", - "GO:0044848", - "GO:0009987", - "HP:0011018", - "UBERON:0010000", - "GO:0007049", - "UPHENO:0050121", - "UPHENO:0087501", - "HP:0003214", - "UPHENO:0004523", - "HP:0025461", - "GO:0005623", - "HP:0004742", - "UBERON:0001456", - "UPHENO:0075787", - "UBERON:0001436", - "UPHENO:0080662", - "UPHENO:0088170", - "UBERON:0000948", - "GO:0048519", - "HP:0040070", - "UBERON:0002090", - "UBERON:0000991", - "UPHENO:0031839", - "UBERON:0002416", - "GO:0048523", - "UPHENO:0054970", - "HP:0000951", - "UBERON:0011582", - "HP:0011276", - "GO:0044237", - "HP:0001574", - "HP:0000240", - "HP:0001172", - "UBERON:0004175", - "HP:0012638", - "UPHENO:0074584", - "HP:0000478", - "UPHENO:0026028", - "UPHENO:0074575", - "UPHENO:0001005", - "UPHENO:0054957", - "UPHENO:0003116", - "UPHENO:0076739", - "HP:0011446", - "UPHENO:0050008", - "NCBITaxon:33208", - "UPHENO:0085302", - "UBERON:0010314", - "GO:0006259", - "OBI:0100026", - "UPHENO:0086589", - "HP:0011961", - "UPHENO:0003811", - "UPHENO:0076702", - "HP:0011028", - "UBERON:0011250", - "UPHENO:0049367", - "UPHENO:0022529", - "UBERON:0012139", - "UBERON:0015023", - "UPHENO:0010795", - "UBERON:0003607", - "UPHENO:0087518", - "UPHENO:0076805", - "UPHENO:0084763", - "UPHENO:0088166", + "BFO:0000003", + "HP:0011844", + "UBERON:0004709", + "CHEBI:24833", + "UBERON:0001008", + "CHEBI:33839", + "CHEBI:26079", + "CHEBI:33670", + "PATO:0000001", + "UPHENO:0002442", + "UBERON:0011249", + "UBERON:0000978", + "HP:0000001", + "CHEBI:16737", + "UPHENO:0076289", + "CHEBI:5686", + "BFO:0000002", + "UBERON:0001062", + "CHEBI:33256", + "CHEBI:33302", + "CHEBI:25693", + "UBERON:0000061", + "BFO:0000015", + "UBERON:0005055", + "UPHENO:0080659", + "UPHENO:0051668", + "CHEBI:33579", + "UPHENO:0081548", + "UPHENO:0015280", + "UPHENO:0082538", + "UBERON:0004769", + "UPHENO:0048707", + "HP:0011849", + "HP:0001941", + "UPHENO:0051804", + "CHEBI:36357", + "UPHENO:0077821", + "HP:0003076", + "UPHENO:0000543", + "CHEBI:23367", + "BFO:0000040", + "UPHENO:0082834", + "HP:0004349", + "UBERON:0006314", + "UPHENO:0046284", + "UBERON:0003103", + "UPHENO:0068110", + "BFO:0000001", + "CHEBI:64709", + "UPHENO:0079536", + "HP:0001871", + "UPHENO:0049874", + "UBERON:0003823", + "HP:0001510", + "HP:0003109", + "HP:0012591", + "HP:0001507", + "CHEBI:37577", + "UBERON:0002417", + "UPHENO:0082129", + "HP:0001939", + "UBERON:0011216", + "UBERON:0001969", + "UBERON:0005172", + "UPHENO:0052038", + "HP:0020129", + "UPHENO:0046348", + "UBERON:0005177", + "UPHENO:0051847", + "CHEBI:36359", + "HP:0003110", + "UBERON:0001088", + "UPHENO:0051686", + "UPHENO:0051739", + "UPHENO:0051900", + "UPHENO:0068292", + "UPHENO:0084654", + "CHEBI:26082", "HP:0010935", - "UBERON:0002398", - "GO:0033554", - "UPHENO:0009382", - "UBERON:0004100", - "HP:0000234", - "UPHENO:0085356", - "HP:0000980", - "HP:0100547", - "UBERON:0001890", - "HP:0000152", - "UBERON:0007811", - "UPHENO:0002910", - "HP:0002011", - "HP:0009121", - "UPHENO:0002764", - "HP:0011844", - "UPHENO:0049701", - "UPHENO:0053298", - "HP:0001877", - "UPHENO:0011498", + "UBERON:0004122", + "UBERON:0002100", + "UPHENO:0082875", + "UBERON:0001474", + "HP:0011277", + "HP:0012599", + "CHEBI:33241", + "HP:0040156", + "UBERON:0000463", + "CHEBI:26020", + "UPHENO:0084763", + "HP:0000924", + "UBERON:0000174", + "GO:0001503", + "UPHENO:0081423", + "UPHENO:0002642", + "HP:0003126", + "UPHENO:0002803", + "UPHENO:0002832", + "HP:0002748", + "UBERON:0004708", + "UBERON:0001434", + "UBERON:0000062", + "HP:0000083", + "GO:0032501", + 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"UPHENO:0031310", + "UPHENO:0020584", + "UBERON:0013702", + "CHEBI:33304", + "HP:0002813", + "HP:0011314", + "UPHENO:0080658", + "UBERON:0002495", + "HP:0000079", + "UBERON:0002513", + "UPHENO:0084767", + "UPHENO:0086628", + "UPHENO:0076285", + "UBERON:0015212", + "UBERON:0010709", + "UBERON:0006058", + "UPHENO:0041226", + "UPHENO:0075952", + "HP:0040068", + "HP:0002979", + "UPHENO:0082543", + "UBERON:0002471", + "CHEBI:33608", + "HP:0000940", + "GO:0042592", + "UBERON:0034925", + "UPHENO:0068472", + "UBERON:0000154", + "HP:0003259", + "UBERON:0010758", + "UPHENO:0068040", + "UBERON:0008784", + "UPHENO:0077858", + "UPHENO:0003070", + "UBERON:0010740" + ], + "has_phenotype_closure_label": [ + "macromolecule", + "abnormal independent continuant protein polypeptide chain level", + "Low-molecular-weight proteinuria", + "increased level of protein polypeptide chain in independent continuant", + "Abnormal urine protein level", + "peptide", + "increased level of carboxylic acid in independent continuant", + "organic amino compound", + "carboxylic acid", + "increased level of amino acid in urine", + "hydroxides", + "carbon oxoacid", + "carbonyl compound", + "abnormal independent continuant amino acid level", + "Abnormal urine pH", + "increased independent continuant base level", + "abnormal urine amino acid level", + "hydrogen molecular entity", + "increased level of organic acid in urine", + "amino acid", + "increased level of amino acid in independent continuant", + "increased level of organic acid in independent continuant", + "abnormal amino acid level", + "abnormal size of anatomical entity", + "Short stature", + "Abnormality of body height", + "decreased size of the anatomical entity in the independent continuant", + "decreased height of the multicellular organism", + "kidney", + "cavitated compound organ", + "abdomen element", + "Abnormality of the kidney", + "Renal insufficiency", + "trunk region element", + "abnormal kidney", + "abdominal segment of trunk", + "trunk", + "abdomen", + "Abnormality of the upper urinary tract", + "non-functional kidney", + "non-functional anatomical entity", + "main body axis", + "subdivision of organism along main body axis", + "increased level of glucose in independent continuant", + "Abnormal urine metabolite level", + "body proper", + "increased level of glucose in urine", + "carbohydrates and carbohydrate derivatives", + "increased level of monosaccharide in urine", + "abnormal role urine level", + "Abnormal urinary organic compound level", + "glucose", + "aldose", + "hexose", + "abnormal urine glucose level", + "Abnormal urine carboxylic acid level", + "abnormality of multicellular organism height", + "abnormal phosphate level", + "abnormality of kidney physiology", + "main group molecular entity", + "increased level of creatinine in independent continuant", + "primary amide", + "abnormal blood nitrogen molecular entity level", + "increased level of creatinine in blood", + "increased bodily fluid acid level", + "decreased height of the anatomical entity", + "abnormal metabolite independent continuant level", + "organonitrogen heterocyclic compound", + "abnormal shape of continuant", + "molecule", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormality of anatomical entity height", + "bone of appendage girdle complex", + "oxygen molecular entity", + "anatomical system", + "abnormal independent continuant carbohydrate level", + "organic molecule", + "abnormal independent continuant nitrogen molecular entity level", + "abnormal anatomical entity", + "organooxygen compound", + "upper urinary tract", + "Abnormality of urine homeostasis", + "shape anatomical entity", + "blood plasma", + "decreased size of the anatomical entity", + "blood", + "abdominal segment element", + "Glycosuria", + "Abnormal bone ossification", + "hindlimb", + "organic molecular entity", + "heteromonocyclic compound", + "haemolymphatic fluid", + "multicellular organism", + "hematopoietic system", + "increased level of nitrogen molecular entity in blood", + "abnormal blood chemical entity level", + "imidazolidines", + "increased level of chemical entity in blood serum", + "urine", + "increased level of creatinine in blood serum", + "excretory system", + "imidazolidinone", + "Abnormal circulating creatinine concentration", + "increased level of chemical entity", + "heteroorganic entity", + "abnormal role blood serum level", + "phosphorus molecular entity", + "Azotemia", + "cyclic amide", + "paired limb/fin segment", + "pnictogen molecular entity", + "abnormal blood serum chemical entity level", + "curved long bone", + "phenotype by ontology source", + "growth", + "monocyclic compound", + "Abnormal bone structure", + "organic cyclic compound", + "phenotype", + "abnormal role blood level", + "Abnormality of metabolism/homeostasis", + "long bone", + "increased independent continuant acid level", + "chemical entity", + "material anatomical entity", + "Metabolic acidosis", + "Abnormal renal physiology", + "chalcogen molecular entity", + "s-block molecular entity", + "increased level of chemical entity in blood plasma", + "Elevated circulating creatinine concentration", + "abnormal independent continuant creatinine level", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "organism substance", + "increased level of chemical entity in blood", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "abnormal role independent continuant level", + "process", + "abnormal blood plasma chemical entity level", + "multi-limb segment region", + "bodily fluid", + "abnormal urine phosphate level", + "subdivision of trunk", + "abnormal phenotype by ontology source", + "independent continuant", + "abnormal growth", + "genitourinary system", + "abnormal blood creatinine level", + "abnormal acid independent continuant level", + "organic heteromonocyclic compound", + "oxoacid", + "delayed biological_process", + "limb skeleton subdivision", + "Abnormal circulating nitrogen compound concentration", + "abnormal independent continuant chemical entity level", + "carbon group molecular entity", + "increased blood serum role level", + "abnormal acid bodily fluid level", + "organic oxo compound", + "excreta", + "phosphorus oxoacid derivative", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "curvature anatomical entity in independent continuant", + "anatomical structure", + "polypeptide", + "abnormal limb", + "Abnormality of bone mineral density", + "Bowing of the long bones", + "Acidosis", + "material entity", + "Phenotypic abnormality", + "Hyperphosphaturia", + "Abnormal circulating organic compound concentration", + "increased level of chemical entity in bodily fluid", + "increased level of chemical entity in urine", + "delayed growth", + "abnormal bone element mass density", + "posterior region of body", + "multicellular anatomical structure", + "blood serum", + "increased level of chemical entity in independent continuant", + "metabolic process", + "p-block molecular entity", + "Elevated urinary carboxylic acid", + "skeleton", + "anatomical entity", + "carboxamide", + "endochondral element", + "organ", + "occurrent", + "appendicular skeleton", + "Abnormality of acid-base homeostasis", + "Abnormal homeostasis", + "organochalcogen compound", + "homeostatic process", + "abnormal hindlimb zeugopod morphology", + "appendage girdle complex", + "organic heterocyclic compound", + "organic acid", + "Abnormal circulating metabolite concentration", + "ossification", + "abnormal hindlimb zeugopod", + "organism subdivision", + "protein polypeptide chain", + "continuant", + "cyclic compound", + "appendage", + "organonitrogen compound", + "polyatomic entity", + "abnormal role bodily fluid level", + "abnormal biological_process", + "lactam", + "increased independent continuant role level", + "creatinine", + "subdivision of skeletal system", + "entity", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "Growth abnormality", + "increased blood role level", + "leg", + "Abnormality of the skeletal system", + "Bowing of the legs", + "abnormal independent continuant phosphate level", + "abnormal leg", + "All", + "anatomical collection", + "Growth delay", + "diaphysis", + "renal system", + "abnormal urine chemical entity level", + "Abnormality of the urinary system physiology", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "zone of bone organ", + "abnormality of anatomical entity physiology", + "compound organ", + "phosphorus oxoacids and derivatives", + "quality", + "abnormality of renal system physiology", + "phosphoric acid derivative", + "abnormal renal system", + "hindlimb zeugopod", + "Abnormal long bone morphology", + "increased level of phosphate in urine", + "oxoacid derivative", + "Aciduria", + "Abnormality of the urinary system", + "abnormal genitourinary system", + "abnormal hindlimb morphology", + "abnormal multicellular organism chemical entity level", + "phosphate", + "Abnormality of the genitourinary system", + "shape hindlimb zeugopod", + "increased level of phosphate in independent continuant", + "abnormal skeletal system", + "Abnormal skeletal morphology", + "Proteinuria", + "protein-containing material entity", + "abnormal skeletal system morphology", + "Abnormality of the musculoskeletal system", + "abnormal upper urinary tract", + "curvature anatomical entity", + "musculoskeletal system", + "hemolymphoid system", + "Rickets", + "abnormal independent continuant glucose level", + "abnormal anatomical entity morphology in the pelvic complex", + "abnormal hindlimb zeugopod, curved", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "abnormal anatomical entity mass density", + "heterocyclic compound", + "skeletal system", + "multicellular organismal process", + "organ part", + "abnormal size of multicellular organism", + "bone element", + "Decreased anatomical entity mass density", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "increased level of monosaccharide in independent continuant", + "Aminoaciduria", + "organ system subdivision", + "increased level of nitrogen molecular entity in independent continuant", + "abnormal diaphysis morphology in the independent continuant", + "diazolidine", + "Reduced bone mineral density", + "Abnormality of the lower limb", + "curved anatomical entity in independent continuant", + "abnormal appendicular skeleton morphology", + "limb bone", + "skeleton of limb", + "abnormal anatomical entity morphology in the independent continuant", + "increased level of protein polypeptide chain in urine", + "limb segment", + "abnormal anatomical entity, curved", + "curved anatomical entity", + "abnormal long bone morphology", + "aldohexose", + "zone of organ", + "shape anatomical entity in independent continuant", + "limb", + "pelvic appendage", + "zone of long bone", + "Abnormality of the calf", + "paired limb/fin", + "subdivision of organism along appendicular axis", + "heteroatomic molecular entity", + "paired limb/fin skeleton", + "limb endochondral element", + "bone of free limb or fin", + "abnormal limb bone morphology", + "lateral structure", + "curved hindlimb zeugopod", + "system", + "monosaccharide", + "Abnormal appendicular skeleton morphology", + "amide", + "Abnormality of limb bone", + "Organic aciduria", + "Abnormal diaphysis morphology", + "subdivision of skeleton", + "endochondral bone", + "pelvic complex", + "abnormal chemical entity level", + "appendicular skeletal system", + "increased level of organic molecular entity in independent continuant", + "abnormal limb bone", + "shape long bone", + "lower limb segment", + "skeletal element", + "zeugopod", + "nitrogen molecular entity", + "abnormal limb morphology", + "abnormal diaphysis morphology", + "increased bodily fluid role level", + "biological_process", + "carbohydrate" + ], + "has_phenotype_count": 11, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0100238", + "category": "biolink:Disease", + "name": "inherited Fanconi renotubular syndrome", + "full_name": null, + "deprecated": null, + "description": "An instance of Fanconi renotubular syndrome that is inherited.", + "xref": ["OMIMPS:134600"], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": ["hereditary Fanconi renotubular syndrome"], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": 0, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0024525", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 1", + "full_name": null, + "deprecated": null, + "description": null, + "xref": ["DOID:0080757", "OMIM:134600"], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [ + "DeToni-Debré-Fanconi syndrome", + "FRTS1", + "Fanconi renotubular syndrome", + "Fanconi renotubular syndrome 1", + "Fanconi syndrome without cystinosis", + "Luder-Sheldon syndrome", + "adult Fanconi syndrome", + "primary Fanconi renal syndrome", + "primary Fanconi renotubular syndrome", + "renal Fanconi syndrome" + ], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0002749", + "HP:0001942", + "HP:0003648", + "HP:0001324", + "HP:0003155", + "HP:0002148", + "HP:0000124", + "HP:0003109", + "HP:0002900", + "HP:0002748", + "HP:0034359", + "HP:0003076", + "HP:0003355", + "HP:0004322", + "HP:0003126", + "HP:0000083" + ], + "has_phenotype_label": [ + "Osteomalacia", + "Metabolic acidosis", + "Lacticaciduria", + "Muscle weakness", + "Elevated circulating alkaline phosphatase concentration", + "Hypophosphatemia", + "Renal tubular dysfunction", + "Hyperphosphaturia", + "Hypokalemia", + "Rickets", + "Impaired renal tubular reabsorption of phosphate", + "Glycosuria", + "Aminoaciduria", + "Short stature", + "Low-molecular-weight proteinuria", + "Renal insufficiency" + ], + "has_phenotype_closure": [ + "UPHENO:0068565", + "CHEBI:37622", + "CHEBI:15841", + "CHEBI:32988", + "CHEBI:16541", + "UPHENO:0068247", + "CHEBI:16670", + "GO:0040007", + "UPHENO:0081424", + "UPHENO:0086132", "UPHENO:0075195", - "UBERON:0012141", - "UPHENO:0080126", - "UBERON:0005172", - "HP:0000252", - "HP:0001881", + "UPHENO:0049874", + "UPHENO:0020584", + "UPHENO:0069254", + "UPHENO:0000541", + "UPHENO:0075159", + "UPHENO:0068169", + "CHEBI:35605", + "UPHENO:0068495", + "CHEBI:33575", + "CHEBI:24651", + "UPHENO:0046286", + "HP:0003355", + "CHEBI:36587", + "UPHENO:0068091", + "HP:0031980", + "UPHENO:0051670", + "CHEBI:33709", + "UPHENO:0068040", + "CHEBI:33608", + "UPHENO:0068144", + "UPHENO:0068538", + "UPHENO:0080658", + "UPHENO:0000543", + "HP:0003076", + "HP:0000002", + "HP:0033354", + "UPHENO:0068054", + "CHEBI:36962", + "CHEBI:25806", + "CHEBI:17234", + "CHEBI:35381", + "CHEBI:18133", + "HP:0034359", + "UPHENO:0051191", + "CHEBI:33917", + "HP:0011038", + "GO:0003008", + "GO:0003014", + "UPHENO:0051280", + "HP:0011036", + "CHEBI:33504", + "CHEBI:33694", + "UPHENO:0077821", + "CHEBI:36357", + "PR:000018263", + "CHEBI:33675", + "HP:0004379", "HP:0000079", - "RO:0002577", - "HP:0006265", - "UBERON:0004121", - "UBERON:0000955", - "UBERON:0015025", - "CL:0000300", - "HP:0008678", - "HP:0000708", - "UBERON:0001968", - "UPHENO:0081451", - "UPHENO:0046505", - "UPHENO:0020888", - "UBERON:0002075", - "UPHENO:0080221", - "UPHENO:0081435", - "HP:0002060", - "UPHENO:0008668", - "UBERON:0003221", - "UPHENO:0066972", - "UBERON:0005944", - "UBERON:0002104", - "HP:0001875", - "UBERON:0011137", - "UBERON:0034925", - "UPHENO:0081466", - "UPHENO:0076703", - "UPHENO:0005433", + 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"UBERON:0009569", + "UPHENO:0082543", + "UBERON:0000483", + "CHEBI:24431", + "HP:0003111", + "CHEBI:33318", + "PR:000003968", + "UBERON:0000479", + "UPHENO:0051686", + "CHEBI:36915", + "UBERON:0000475", + "HP:0012211", + "UBERON:0015212", + "CHEBI:78616", + "HP:0000077", + "HP:0001992", + "UBERON:0010000", + "UPHENO:0051709", + "UBERON:0002390", + "UPHENO:0066943", + "UPHENO:0049709", + "HP:0004322", + "CHEBI:26216", + "UBERON:0004211", + "UBERON:0007684", + "UBERON:0004122", + "HP:0010935", + "UBERON:0005172", + "HP:0003126", + "HP:0002748", + "UPHENO:0002832", + "UPHENO:0002803", + "CHEBI:16646", + "HP:0000124", + "UBERON:0000916", + "UBERON:0005173", + "UPHENO:0051847", + "UBERON:0005177", + "UPHENO:0002816", + "UBERON:0011143", + "UBERON:0004819", + "HP:0012599", + "CHEBI:33296", + "PR:000000001", + "UPHENO:0034199", + "UPHENO:0051898", + "UPHENO:0081547", + "CHEBI:25414", + "UPHENO:0068058", + "CHEBI:33674", + "UPHENO:0051930", + "CHEBI:33559", + "CHEBI:25213", + "CHEBI:26217", + "UPHENO:0051645", + "HP:0010929", + "UPHENO:0051958", + "UPHENO:0052116", + "CHEBI:24835", + "CHEBI:36586", + "CHEBI:33521", + "CHEBI:36914", + "UPHENO:0034438", + "UBERON:0006555", + "GO:0055080", + "UBERON:0000061", + "CHEBI:36916", + "UPHENO:0079822", + "HP:0003648", + "HP:0001941", + "UPHENO:0051804", + "CHEBI:29103" + ], + "has_phenotype_closure_label": [ + "Renal insufficiency", + "non-functional kidney", + "non-functional anatomical entity", + "carboxamide", + "increased level of protein polypeptide chain in urine", + "abnormal independent continuant protein polypeptide chain level", + "Low-molecular-weight proteinuria", + "amide", + "increased level of protein polypeptide chain in independent continuant", + "Abnormal urine protein level", + "peptide", + "growth", + "Growth delay", + "Abnormality of body height", + "decreased size of the anatomical entity in the independent continuant", + "Growth abnormality", + "delayed growth", + "abnormal anatomical entity morphology in the independent continuant", + "decreased height of the multicellular organism", + "increased level of carboxylic acid in independent continuant", + "carboxylic acid", + "molecule", + "increased level of amino acid in urine", + "hydroxides", + "organic molecule", + "carbonyl compound", + "abnormal size of anatomical entity", + "abnormal amino acid level", + "Organic aciduria", + "abnormal urine amino acid level", + "increased level of organic acid in urine", + "increased level of nitrogen molecular entity in independent continuant", + "amino acid", + "Elevated urinary carboxylic acid", + "increased level of organic acid in independent continuant", + "increased level of glucose in independent continuant", + "Abnormal urine metabolite level", + "carbohydrates and carbohydrate derivatives", + "increased level of monosaccharide in urine", + "oxygen molecular entity", + "organooxygen compound", + "Abnormal urinary organic compound level", + "abnormal independent continuant glucose level", + "aldohexose", + "increased level of organic molecular entity in independent continuant", + "glucose", + "aldose", + "hexose", + "abnormal urine glucose level", + "increased level of monosaccharide in independent continuant", + "abnormal independent continuant carbohydrate level", + "monosaccharide", + "abnormal renal system process", + "renal absorption", + "abnormal renal absorption", + "abnormal independent continuant amino acid level", + "renal system process", + "organic molecular entity", + "protein-containing molecular entity", + "Decreased anatomical entity mass density", + "decreased level of chemical entity in independent continuant", + "Abnormal blood ion concentration", + "increased level of alkaline phosphatase, tissue-nonspecific isozyme", + "main group element atom", + "pnictogen molecular entity", + "abnormality of muscle organ physiology", + "increased level of protein", + "increased level of glucose in urine", + "body proper", + "decreased muscle organ strength", + "polypeptide", + "Abnormality of bone mineral density", + "anatomical structure", + "anatomical conduit", + "abdominal segment of trunk", + "musculature of body", + "monoatomic cation", + "Abnormality of the upper urinary tract", + "chemical substance", + "abnormal independent continuant potassium atom level", + "increased independent continuant base level", + "muscle organ", + "anatomical entity dysfunction in independent continuant", + "rac-lactic acid", + "increased level of rac-lactic acid in urine", + "increased level of chemical entity in urine", + "increased level of chemical entity in bodily fluid", + "decreased anatomical entity strength", + "mixture", + "epithelial tube", + "organic oxo compound", + "excreta", + "abnormal acid bodily fluid level", + "monoatomic monocation", + "Abnormality of the urinary system", + "Aciduria", + "abnormal blood potassium atom level", + "abnormality of anatomical entity height", + "metal atom", + "increased level of rac-lactic acid in independent continuant", + "skeletal element", + "cavitated compound organ", + "delayed biological_process", + "oxoacid", + "Osteomalacia", + "chemical entity", + "increased independent continuant acid level", + "Abnormality of alkaline phosphatase level", + "increased independent continuant role level", + "increased bodily fluid acid level", + "abnormal blood monoatomic ion level", + "decreased level of potassium atom in blood", + "Metabolic acidosis", + "homeostatic process", + "protein", + "phenotype by ontology source", + "decreased level of chemical entity in blood", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "abnormal independent continuant nitrogen molecular entity level", + "Lacticaciduria", + "alkali metal molecular entity", + "entity", + "Phenotypic abnormality", + "Hyperphosphaturia", + "abnormal anatomical entity mass density", + "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", + "epithelium", + "abnormality of anatomical entity physiology", + "abnormally decreased functionality of the nephron tubule", + "Abnormal urine pH", + "increased level of chemical entity in independent continuant", + "Abnormal bone structure", + "anatomical system", + "potassium(1+)", + "All", + "abnormal growth", + "independent continuant", + "abnormal anatomical entity", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "abnormal urine chemical entity level", + "monoatomic ion homeostasis", + "decreased height of the anatomical entity", + "abnormal metabolite independent continuant level", + "abnormal size of multicellular organism", + "bone element", + "Abnormal renal tubular resorption", + "anatomical entity", + "multicellular anatomical structure", + "heteroorganic entity", + "abnormal bone element mass density", + "decreased role independent continuant level", + "Muscle weakness", + "organ part", + "abnormal musculature", + "abnormal skeletal system", + "increased level of phosphate in independent continuant", + "abnormal potassium atom level", + "abnormal renal system", + "process", + "Abnormality of acid-base homeostasis", + "tube", + "potassium molecular entity", + "genitourinary system", + "atom", + "carbohydrate", + "increased bodily fluid role level", + "biological_process", + "renal tubule", + "carbon group molecular entity", + "Abnormality of renal excretion", + "abnormal independent continuant chemical entity level", + "protein polypeptide chain", + "continuant", + "nephron", + "amino acid chain", + "tissue", + "Abnormal circulating enzyme concentration or activity", + "organism subdivision", + "urine", + "material entity", + "organic amino compound", + "Acidosis", + "increased level of chemical entity", + "inorganic cation", + "Glycosuria", + "information biomacromolecule", + "abdominal segment element", + "Abnormal bone ossification", + "decreased size of the anatomical entity", + "blood", + "racemate", + "phosphate ion homeostasis", + "inorganic ion", + "abnormal genitourinary system", + "Aminoaciduria", + "organ system subdivision", + "primary amide", + "elemental molecular entity", + "nitrogen molecular entity", + "renal system", + "hydrogen molecular entity", + "nephron tubule", + "phenotype", + "Abnormality of the genitourinary system", + "Reduced bone mineral density", + "inorganic ion homeostasis", + "Impaired renal tubular reabsorption of phosphate", + "multicellular organism", + "hematopoietic system", + "abnormal monoatomic cation homeostasis", + "alkaline phosphatase, tissue-nonspecific isozyme", + "nephron epithelium", + "polyatomic entity", + "increased level of amino acid in independent continuant", + "Abnormality of the musculature", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "abnormal role urine level", + "abnormal chemical entity level", + "organochalcogen compound", + "Abnormal muscle physiology", + "Abnormal homeostasis", + "Abnormal enzyme concentration or activity", + "p-block molecular entity", + "biomacromolecule", + "Abnormality of urine homeostasis", + "upper urinary tract", + "occurrent", + "organ", + "skeletal system", + "Abnormality of the urinary system physiology", + "abnormal blood chemical entity level", + "macromolecule", + "material anatomical entity", + "muscle structure", + "metabolic process", + "bodily fluid", + "abnormal urine phosphate level", + "Abnormality of metabolism/homeostasis", + "abnormal monoatomic ion homeostasis", + "abnormal role blood level", + "organism substance", + "abnormality of kidney physiology", + "Elevated circulating alkaline phosphatase concentration", + "main group molecular entity", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "chemical homeostasis", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "decreased level of potassium atom in independent continuant", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "Abnormality of the skeletal system", + "abnormal independent continuant phosphate level", + "abnormal chemical homeostasis", + "abnormal protein level", + "Abnormality of the musculoskeletal system", + "abnormal phosphate ion homeostasis", + "abdomen element", + "haemolymphatic fluid", + "ion", + "abnormal homeostatic process", + "multicellular organismal process", + "abnormal blood phosphate level", + "Hypophosphatemia", + "monoatomic ion", + "abnormal role bodily fluid level", + "abnormal biological_process", + "potassium atom", + "Proteinuria", + "abnormal skeletal system morphology", + "protein-containing material entity", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "abnormality of renal system physiology", + "quality", + "phosphoric acid derivative", + "trunk", + "phosphorus molecular entity", + "heteroatomic molecular entity", + "abnormal acid independent continuant level", + "monoatomic entity", + "abnormal phenotype by ontology source", + "subdivision of trunk", + "organic acid", + "ossification", + "Abnormal circulating metabolite concentration", + "main body axis", + "excretory system", + "abnormal independent continuant monoatomic ion level", + "musculoskeletal system", + "abnormal upper urinary tract", + "uriniferous tubule", + "subdivision of organism along main body axis", + "phosphorus oxoacids and derivatives", + "Abnormal blood phosphate concentration", + "kidney epithelium", + "compound organ", + "abdomen", + "Renal tubular dysfunction", + "abnormal kidney", + "trunk region element", + "Abnormality of the kidney", + "lateral structure", + "chalcogen molecular entity", + "Abnormal renal physiology", + "Short stature", + "inorganic molecular entity", + "abnormally decreased functionality of the anatomical entity", + "excretory tube", + "kidney", + "oxoacid derivative", + "increased level of phosphate in urine", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "musculature", + "decreased role blood level", + "abnormal role independent continuant level", + "metal cation", + "monovalent inorganic cation", + "s-block molecular entity", + "s-block element atom", + "Abnormal blood cation concentration", + "organonitrogen compound", + "abnormal independent continuant potassium(1+) level", + "abnormal blood potassium(1+) level", + "carbon oxoacid", + "Abnormal blood potassium concentration", + "abnormal multicellular organism chemical entity level", + "phosphate", + "alkali metal cation", + "elemental potassium", + "Hypokalemia", + "Abnormal blood monovalent inorganic cation concentration", + "monoatomic cation homeostasis", + "cation", + "alkali metal atom", + "hemolymphoid system", + "Rickets", + "abnormality of multicellular organism height", + "Abnormal urine carboxylic acid level", + "decreased level of chemical entity", + "abnormal phosphate level", + "system process" + ], + "has_phenotype_count": 16, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0030056", + "category": "biolink:Disease", + "name": "Fanconi renotubular syndrome 5", + "full_name": null, + "deprecated": null, + "description": null, + "xref": ["DOID:0080761", "GARD:16392", "OMIM:618913"], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [ + "FANCONI RENOTUBULAR SYNDROME 5", + "FRTS5", + "Fanconi Renotubular Syndrome, Acadian Variant", + "Fanconi renotubular syndrome 5" + ], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0002857", + "HP:0045051", + "HP:0002097", + "HP:0002148", + "HP:0002206", + "HP:0004912", + "HP:0004918", + "HP:0000093", + "HP:0003076", + "HP:0003355", + "HP:0005576", + "HP:0003774", + "HP:0000822", + "HP:0030078" + ], + "has_phenotype_label": [ + "Genu valgum", + "Decreased DLCO", + "Emphysema", + "Hypophosphatemia", + "Pulmonary fibrosis", + "Hypophosphatemic rickets", + "Hyperchloremic metabolic acidosis", + "Proteinuria", + "Glycosuria", + "Aminoaciduria", + "Tubulointerstitial fibrosis", + "Stage 5 chronic kidney disease", + "Hypertension", + "Lung adenocarcinoma" + ], + "has_phenotype_closure": [ + "HP:0100526", + "HP:0011793", + "HP:0002664", + "UBERON:0000477", + "UBERON:0034923", + "HP:0002597", + "UPHENO:0002678", + "UBERON:0002049", "UBERON:0001009", - "UPHENO:0002832", - "HP:0000365", + "UBERON:0000055", + "HP:0001626", + "HP:0000822", + "UBERON:0004535", + "UBERON:0001981", + "HP:0030972", + "HP:0012622", + "UPHENO:0086132", + "HP:0003774", + "HP:0012211", + "UPHENO:0076779", + "UBERON:0004819", "HP:0012210", - "UPHENO:0081424", - "UPHENO:0074572", - "UBERON:8450002", - "UPHENO:0087427", - "UBERON:0011138", - "UPHENO:0026181", - "HP:0001874", - "BFO:0000003", - "UPHENO:0076675", - "UBERON:0002616", - "HP:0008373", - "HP:0011121", - "UPHENO:0068971", - "UBERON:0003103", - "UBERON:0004375", - "HP:0012130", - "UBERON:0005881", - "HP:0001000", - "HP:0011893", - "UPHENO:0086176", + "UBERON:0002113", + "UBERON:0011143", + "UPHENO:0076714", "UBERON:0005173", - "UBERON:0002417", - "HP:0006496", - "HP:0012372", - "HP:0005927", - "UBERON:0002100", - "HP:0000549", - "UPHENO:0076791", - "UBERON:0001893", "UBERON:0000916", - "GO:0032501", - "UBERON:0005451", - "HP:0100542", - "NBO:0000313", - "UBERON:0004535", + "UBERON:0005172", + "UBERON:0000489", + "UBERON:0009773", + "UBERON:0007684", + "UBERON:0004211", + "HP:0000091", + "UBERON:0000479", + "HP:0030760", + "UPHENO:0075902", + "UBERON:0001231", + "UPHENO:0068169", + "CHEBI:36586", + "UPHENO:0068495", + "CHEBI:33575", + "UPHENO:0076756", + "CHEBI:25367", + "CHEBI:24651", + "UBERON:0004537", + "UPHENO:0046286", + "UPHENO:0051930", + "UPHENO:0051739", + "CHEBI:36587", + "HP:0031980", + "UPHENO:0051670", + "HP:0030078", + "HP:0012072", + "HP:0030358", + "HP:0032943", + "CHEBI:33709", + "CHEBI:33674", + "UPHENO:0068058", + "HP:0000077", + "CHEBI:78616", + "UPHENO:0051635", + "UPHENO:0052116", + "HP:6000531", + "CHEBI:17234", + "CHEBI:35381", + "CHEBI:16646", + "CHEBI:18133", + "UPHENO:0002442", + "UPHENO:0068565", + "CHEBI:37622", + "CHEBI:50047", + "CHEBI:15841", + "HP:0011277", + "HP:0010935", + "UBERON:0004122", + "UBERON:8450002", + "HP:0033354", + "CHEBI:33285", + "CHEBI:32988", + "CHEBI:35352", + "HP:0032581", + "CHEBI:36962", + "CHEBI:51143", + "UPHENO:0051686", + "CHEBI:16541", + "UBERON:0001088", + "CHEBI:50860", + "UPHENO:0068247", + "CHEBI:15693", + "UPHENO:0081544", "HP:0000119", - "UPHENO:0041226", - "UPHENO:0046707", - "UPHENO:0002635", - "UPHENO:0026506", - "UBERON:5006048", - "UBERON:0012357", + "UPHENO:0082542", + "CHEBI:16670", + "CHEBI:24833", "UBERON:0001008", - "HP:0011025", - "HP:0009943", - "UBERON:0002390", - "UBERON:0034923", - "UPHENO:0079876", - "UPHENO:0002844", - "UPHENO:0085405", - "UPHENO:0050620", - "UBERON:0004122", - "HP:0000001", - "UPHENO:0075902", - "UBERON:0011216", - "UBERON:0000062", - "UPHENO:0002903", - "UPHENO:0076727", - "UPHENO:0002332", - "HP:0002813", - "UBERON:0015061", - "GO:0008150", - "HP:0040068", - "UPHENO:0087907", - "GO:0071824", + "UPHENO:0068538", + "UBERON:0003914", + "CHEBI:64709", + "UPHENO:0079536", + "UPHENO:0082539", + "UPHENO:0051640", + "UPHENO:0081546", + "UPHENO:0082467", + "UBERON:0011676", + "UBERON:0000072", + "UBERON:0010740", + "UPHENO:0068040", + "UBERON:0008784", + "UBERON:0004288", + "UBERON:0010758", + "UBERON:0000061", + "UPHENO:0041098", + "UPHENO:0002830", + "UBERON:0011249", + "UPHENO:0001003", "UPHENO:0002642", - "HP:0100543", - "HP:0001249", - "UBERON:0000075", - "UPHENO:0084447", - "UPHENO:0049874", - "PATO:0000001", - "HP:0009825", + "HP:0100491", + "UPHENO:0081548", "UPHENO:0015280", - "UPHENO:0000543", - "UPHENO:0050116", - "UBERON:0002471", - "UPHENO:0076718", - "UBERON:0010323", - "UPHENO:0002219", - "NCBITaxon:131567", - "UPHENO:0087123", - "UPHENO:0085042", - "UPHENO:0085354", - "UPHENO:0081423", - "HP:0001909", - "UPHENO:0003020", - "UBERON:0010712", - "GO:0022403", - "UPHENO:0085118", - "NCBITaxon:6072", - "GO:0050794", - "HP:0000104", - "GO:0050890", - "HP:0000486", - "UPHENO:0004459", - "HP:0001903", - "UPHENO:0076779", - "UBERON:0003133", - "UBERON:0001016", - "HP:0005922", - "GO:0050877", - "HP:0000081", - "HP:0000271", - "UPHENO:0085371", - "UBERON:0006058", - "GO:0009889", - "CL:0000219", - "UPHENO:0087355", - "UPHENO:0084928", - "UBERON:0002193", - "HP:0032309", - "UPHENO:0086019", - "UBERON:0001017", - "HP:0031704", - "UPHENO:0085189", + "HP:0003110", + "CHEBI:36359", + "UBERON:0000174", + "HP:0000924", + "UPHENO:0041226", + "UBERON:0010363", + "UBERON:0010709", + "UPHENO:0068054", + "UPHENO:0020041", + "UPHENO:0075945", + "UPHENO:0084767", + "UPHENO:0031310", + "UPHENO:0020584", + "RO:0002577", + "CHEBI:33608", + "HP:0000940", + "UPHENO:0002964", "UBERON:0002101", - "UPHENO:0049952", - "UBERON:0009569", - "UBERON:0007798", - "UPHENO:0077426", - "HP:0032251", - "UBERON:0002204", - "UBERON:0011143", - "UBERON:0013701", - "HP:0010987", - "UPHENO:0086045", - "UPHENO:0002406", - "BFO:0000001", - "UPHENO:0060026", - "HP:0000118", - "UBERON:0001690", - "UPHENO:0063722", - "HP:0011297", - "UPHENO:0075696", - "UPHENO:0076692", - "HP:0000085", - "UBERON:0019221", - "HP:0000135", - "UPHENO:0087472", + "UPHENO:0068144", + "UBERON:0010707", + "UBERON:0004120", + "HP:0040064", + "HP:0011025", + "HP:0001969", + "UBERON:0005055", + "BFO:0000015", + "UPHENO:0086628", + "UBERON:0002529", + "UPHENO:0041536", + "UPHENO:0076727", "BFO:0000020", - "HP:0003213", - "HP:0002715", - "HP:0010974", - "HP:0009142", + "UPHENO:0068491", + "CHEBI:36360", + "HP:0100606", + "UPHENO:0084763", + "UPHENO:0001005", + "UBERON:0005913", + "UPHENO:0041610", + "UBERON:0000062", + "HP:0012575", + "UPHENO:0081550", + "UPHENO:0068091", + "HP:0001367", + "UPHENO:0082835", + "UBERON:0000064", + "UPHENO:0087462", + "CHEBI:24870", + "HP:0000001", + "UBERON:0004111", + "UBERON:0006058", + "HP:0033127", + "UPHENO:0086635", + "BFO:0000004", + "UBERON:0000026", + "UBERON:0000179", + "UBERON:0004381", + "UBERON:0011582", + "UBERON:0010912", "UPHENO:0001002", - "CL:0000775", - "UBERON:0001442", + "HP:0034669", + "HP:0020129", + "UPHENO:0046348", + "HP:0006530", + "BFO:0000002", + "UBERON:0034921", + "HP:0011849", + "UPHENO:0048707", + "UPHENO:0086956", + "UPHENO:0002885", + "UPHENO:0076692", + "UPHENO:0002536", + "UBERON:0000154", + "UPHENO:0076703", + "HP:0002814", + "UPHENO:0051801", + "UBERON:0001465", + "UPHENO:0076767", + "UBERON:0034944", + "UPHENO:0080300", + "UPHENO:0002896", + "HP:0012252", + "HP:0000118", + "UPHENO:0031193", + "UBERON:0000178", + "UBERON:0001062", + "UBERON:0004765", + "UBERON:0000467", + "UBERON:0005178", + "UBERON:0011216", + "UBERON:0004770", + "UBERON:0002417", + "UPHENO:0082129", + "CHEBI:37577", + "PR:000050567", + "HP:0011844", + "UBERON:0004709", + "BFO:0000003", + "BFO:0000001", + "UBERON:0001434", + "UPHENO:0076299", + "UBERON:0004708", "UPHENO:0002803", - "HP:0009822", + "UPHENO:0002832", + "HP:0002748", + "HP:0040068", + "UPHENO:0075952", + "UPHENO:0002411", + "HP:0002981", + "UBERON:0006555", + "UPHENO:0086780", "UBERON:0010538", - "CL:0000233", - "HP:0000028", - "UBERON:0015212", - "CL:0000738", - "UPHENO:0035025", - "HP:0025354", - "UPHENO:0006910", - "UBERON:0000970", - "UPHENO:0088338", - "UBERON:0004120", + "HP:0003076", + "UBERON:0013522", + "HP:0006487", + "UPHENO:0004536", "UPHENO:0001001", - "UPHENO:0088176", - "CL:0002422", - "UBERON:0001062", - "UPHENO:0082444", - "UPHENO:0054261", - "UPHENO:0086016", - "HP:0000978", - "UBERON:0002405", - "UPHENO:0020584", - "NBO:0000444", - "HP:0009777", - "HP:0001939", - "CL:0000763", - "UPHENO:0086005", - "HP:0000707", - "HP:0001911", - "UPHENO:0059829", - "UPHENO:0087802", - "UBERON:0000489", - "UBERON:0000153", - "UPHENO:0084761", - "UPHENO:0052178", - "NCBITaxon:2759", + "UBERON:0002204", + "UPHENO:0086908", + "UPHENO:0080658", + "UBERON:0002495", "UBERON:0000468", - "UBERON:0010741", - "HP:0000815", - "CL:0000094", + "UBERON:0010712", + "UPHENO:0034253", + "HP:0000093", + "GO:0055062", + "UBERON:0003840", + "HP:0001992", + "UBERON:0010000", + "UPHENO:0051709", + "UBERON:0002390", + "HP:0000079", + "UBERON:0002513", + "UBERON:0000075", + "UPHENO:0003070", + "CHEBI:25806", + "UPHENO:0082449", "HP:0011314", - "UPHENO:0085984", - "HP:0001507", + "UBERON:0015061", + "UPHENO:0077858", + "CHEBI:35605", + "UBERON:0002091", + "UPHENO:0041591", + "UPHENO:0002406", + "BFO:0000040", + "UPHENO:0082834", + "HP:0004349", + "HP:0002815", + "CHEBI:33917", + "UBERON:0004375", + "HP:0011842", + "UPHENO:0075696", "HP:0001871", - "UBERON:5106048", - "UBERON:0001463", - "GO:0043170", - "UPHENO:0002433", - "UBERON:0000061", - "UBERON:0015203", - "UBERON:0007100", - "UPHENO:0085330", - "UPHENO:0085344", - "UBERON:0002389", - "GO:0009892", - "UPHENO:0088335", - "UPHENO:0086201", - "UBERON:0002513", - "GO:0050896", + "UBERON:0002103", + "UBERON:0015212", + "UPHENO:0041258", + "UBERON:0005177", + "UPHENO:0051847", + "CHEBI:33582", + "UBERON:0000465", + "UBERON:0004769", + "UPHENO:0082538", + "UBERON:0001004", + "UPHENO:0087427", + "UPHENO:0078554", + "UPHENO:0002332", + "CHEBI:33259", + "UPHENO:0041573", + "HP:0030878", + "HP:0045049", + "UBERON:0000978", + "HP:0100529", + "UBERON:0001474", + "UBERON:0002100", + "UPHENO:0082875", + "CHEBI:36963", + "UPHENO:0051186", + "HP:0002086", + "GO:0001503", + "HP:0045051", + "GO:0008150", + "UPHENO:0002448", "UBERON:0000475", - "UBERON:0000467", - "UBERON:0015204", - "UPHENO:0024906", - "HP:0002818", - "HP:0012759", - "UBERON:0006048", + "UPHENO:0087433", + "UBERON:0001558", + "UBERON:0001285", + "UBERON:0013701", + "UBERON:0009569", + "HP:0002097", + "UPHENO:0068110", + "UBERON:0003103", + "CHEBI:33256", + "UBERON:0000025", + "CHEBI:24867", + "HP:0005576", + "UBERON:0001005", + "PATO:0000001", + "UBERON:0004905", + "HP:0002088", + "UPHENO:0020748", + "UBERON:0005181", + "UBERON:0002075", + "HP:0003355", + "UPHENO:0019970", + "UBERON:0007798", + "CHEBI:33304", + "HP:0002813", + "UBERON:0013702", + "HP:0002148", + "UBERON:0002048", + "UBERON:0000171", + "UBERON:0004119", + "CHEBI:33302", + "UBERON:0034925", + "HP:0002795", + "GO:0042592", + "UPHENO:0087993", "GO:0008152", - "UBERON:0000073", - "HP:0003221", - "BFO:0000004", - "UBERON:0000047", - "UPHENO:0026023", - "HP:0000929", - "UPHENO:0085068", - "GO:0043473", - "BFO:0000040", - "CL:0000081", - "UBERON:0019231", - "GO:0031323", - "UPHENO:0086002", - "UBERON:0011249", - "UPHENO:0085076", - "UPHENO:0080099", - "HP:0000953", - "UPHENO:0087089", - "HP:0000032", - "UBERON:0004288", - "UBERON:0012354", - "UPHENO:0088162", - "UPHENO:0005597", - "UPHENO:0002378", - "UPHENO:0082875", - "UPHENO:0076723", - "UBERON:0005156", - "UPHENO:0085195", - "CL:0000000", - "UBERON:0000465", - "HP:0003220", - "UBERON:0000026", + "UPHENO:0086128", + "UPHENO:0049587", + "UPHENO:0080659", + "CHEBI:33579", + "UPHENO:0051668", + "UBERON:0003657", + "CHEBI:23367", + "HP:0032263", + "UPHENO:0046284", + "UBERON:0000915", + "UPHENO:0034391", + "HP:0004360", + "UPHENO:0050080", + "UBERON:0002428", + "UPHENO:0004459", + "GO:0098771", + "UPHENO:0077821", + "CHEBI:36357", + "GO:0050801", + "HP:0000083", + "GO:0032501", + "UBERON:0003823", + "HP:0001995", + "UBERON:0000065", + "HP:0032180", + "CHEBI:26082", + "UPHENO:0049904", + "UPHENO:0066739", + "GO:0048878", + "UPHENO:0051763", + "UPHENO:0080362", + "UPHENO:0051937", + "HP:0004912", + "HP:0001941", + "UPHENO:0051804", + "CHEBI:33675", + "UBERON:0002193", + "UPHENO:0051960", + "UPHENO:0034351", + "UPHENO:0084654", + "HP:0001939", + "CHEBI:33241", + "UPHENO:0049628", + "CHEBI:33238", + "HP:0040156", + "HP:0002857", "UBERON:0000463", - "CL:0000225", - "UPHENO:0001003" + "CHEBI:26020", + "UBERON:0006314", + "CHEBI:33839", + "CHEBI:26079", + "UBERON:0000982", + "UPHENO:0034217", + "HP:0003111", + "CHEBI:24431", + "UPHENO:0079873", + "HP:0002206", + "UPHENO:0076740", + "UPHENO:0076294", + "HP:0001942", + "HP:0004348", + "UPHENO:0084653", + "HP:0003330", + "HP:0004918", + "UPHENO:0081547", + "HP:0012337", + "UBERON:0000170", + "UPHENO:0068089", + "UPHENO:0076289", + "CHEBI:72695", + "UPHENO:0068064", + "UBERON:0000483", + "UBERON:0002471", + "HP:0002979", + "UPHENO:0082543" ], "has_phenotype_closure_label": [ + "Neoplasm", + "Neoplasm of the respiratory system", + "Abnormality of the vasculature", + "cardiovascular system", + "blood vasculature", + "disconnected anatomical group", + "abnormal cardiovascular system", + "Hypertension", + "Abnormal systemic blood pressure", + "abnormal vasculature", + "Chronic kidney disease", + "Renal insufficiency", + "non-functional kidney", + "excretory tube", + "cavitated compound organ", + "Abnormal renal morphology", + "abdomen element", + "tissue", + "anatomical cluster", + "abnormal kidney epithelium morphology", + "Abnormality of the kidney", + "renal tubule", + "uriniferous tubule", + "nephron epithelium", + "Abnormal renal insterstitial morphology", + "abnormal kidney", + "abdominal segment of trunk", + "abdomen", + "Abnormality of the upper urinary tract", + "Abnormal nephron morphology", + "Increased blood pressure", + "Tubulointerstitial fibrosis", + "increased level of carboxylic acid in independent continuant", + "carboxylic acid", + "molecule", + "increased level of amino acid in urine", + "hydroxides", + "organic molecule", + "carbon oxoacid", + "carbonyl compound", + "abnormal independent continuant amino acid level", + "abnormal amino acid level", + "Abnormal urine pH", + "abnormal urine amino acid level", + "Abnormal renal tubule morphology", + "nephron tubule", + "hydrogen molecular entity", + "abnormal nephron tubule morphology", + "increased level of organic acid in urine", + "increased level of carboxylic acid in urine", + "amino acid", + "s-block molecular entity", + "oxoacid", + "increased level of organic acid in independent continuant", + "increased level of glucose in independent continuant", + "abnormal metabolite independent continuant level", + "carbohydrates and carbohydrate derivatives", + "Lung adenocarcinoma", + "increased level of monosaccharide in urine", + "Abnormal urinary organic compound level", + "glucose", + "aldose", + "hexose", + "abnormal urine glucose level", + "increased level of monosaccharide in independent continuant", + "abnormal independent continuant carbohydrate level", + "monosaccharide", + "Abnormal urine metabolite level", + "Abnormality of the cardiovascular system", + "Abnormality of the genitourinary system", + "carboxamide", + "organic amino compound", + "macromolecule", + "abnormal genitourinary system", + "abnormal independent continuant protein polypeptide chain level", + "Aciduria", + "Abnormality of the urinary system", + "oxygen molecular entity", + "abnormal independent continuant nitrogen molecular entity level", + "abnormal renal system", + "heteroorganic entity", + "organooxygen compound", + "abnormal role urine level", + "vascular system", + "increased level of chemical entity in urine", + "increased level of protein polypeptide chain in independent continuant", + "upper urinary tract", + "Abnormal tubulointerstitial morphology", + "Abnormality of urine homeostasis", + "organic molecular entity", + "urine", + "Abnormality of the urinary system physiology", + "Abnormal urine protein level", + "organic oxo compound", + "excreta", + "increased independent continuant base level", + "renal system", + "genitourinary system", "abnormal shape of continuant", - "concave 3-D shape anatomical entity", - "Horseshoe kidney", - "3-D shape anatomical entity", + "nitrogen molecular entity", + "abnormal limb morphology", + "abnormal anatomical entity, curved", + "abnormal anatomical entity morphology in the independent continuant", + "zone of bone organ", + "appendicular skeleton", + "pelvic complex", + "curvature anatomical entity in independent continuant", + "Abnormality of limbs", + "Abnormality of limb bone morphology", + "nephron", + "curved long bone", + "occurrent", + "organ", + "Stage 5 chronic kidney disease", + "mesoderm-derived structure", + "zone of long bone", + "Hyperchloremic metabolic acidosis", + "Emphysema", + "skeletal system", + "blood", + "long bone", + "phosphate ion homeostasis", + "abdominal segment element", + "Glycosuria", + "Abnormal bone ossification", + "organism subdivision", + "respiratory tract", + "Abnormal respiratory system physiology", + "homeostatic process", + "organochalcogen compound", + "Abnormal homeostasis", + "lower limb segment", + "abnormal skeletal joint morphology", + "abnormal independent continuant glucose level", + "abnormal hindlimb zeugopod, curved", + "abnormal anatomical entity morphology in the pelvic complex", + "phenotype by ontology source", + "amide", + "Abnormality of limb bone", + "anatomical entity", + "material entity", + "Abnormal appendicular skeleton morphology", + "Aminoaciduria", + "organ system subdivision", + "increased level of nitrogen molecular entity in independent continuant", + "abnormal diaphysis morphology in the independent continuant", + "Proteinuria", + "abnormal skeletal system morphology", + "protein-containing material entity", + "hindlimb", + "epithelium", + "system", + "subdivision of tube", + "abnormal anatomical entity", + "increased level of protein polypeptide chain in urine", + "limb segment", + "Abnormal joint morphology", + "increased level of amino acid in independent continuant", + "thoracic segment of trunk", + "abnormal anatomical entity morphology in the appendage girdle complex", + "bone of appendage girdle complex", + "Non-small cell lung carcinoma", + "skeletal joint", + "abnormal limb bone morphology", + "aldohexose", + "zone of organ", + "abnormal long bone morphology", + "organonitrogen compound", + "appendage", + "tube", + "Abnormality of acid-base homeostasis", + "organ part", + "abnormal blood phosphate level", + "multicellular organismal process", + "limb skeleton subdivision", + "paired limb/fin segment", + "Abnormality of the knee", + "abnormal lung morphology", + "subdivision of organism along appendicular axis", + "abnormal skeletal system", + "Abnormality of the lower limb", + "curved anatomical entity in independent continuant", + "abnormal appendicular skeleton morphology", + "abnormal phenotype by ontology source", + "subdivision of trunk", + "abnormal renal system morphology", + "abnormal hindlimb joint", + "All", + "anatomical collection", + "vessel", + "diaphysis", + "abnormal leg", + "non-functional anatomical entity", + "thoracic segment organ", + "subdivision of skeleton", + "endochondral bone", + "articular system", + "Hypophosphatemia", + "leg", + "monoatomic ion", + "chemical homeostasis", + "Genu valgum", + "limb joint", + "limb bone", "shape anatomical entity in independent continuant", - "abnormal DNA damage response", - "DNA damage response", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "cellular response to stimulus", - "Abnormality of DNA repair", - "decreased sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "Abnormal ear physiology", - "Abnormality of the ear", - "abnormality of ear physiology", - "abnormal DNA repair", - "Hearing abnormality", - "non-material anatomical boundary", - "abnormal behavior", - "response to stimulus", - "eye movement", - "anatomical line", - "abnormal response to stimulus", - "Abnormality of eye movement", - "Abnormal eye physiology", - "abnormality of camera-type eye physiology", - "abnormal behavior process", - "abnormal size of multicellular organism", - "decreased height of the anatomical entity", - "decreased size of the multicellular organism", - "abnormality of anatomical entity height", - "delayed growth", - "Growth delay", - "Abnormality of body height", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "ear", + "phenotype", + "abnormal upper urinary tract", + "curvature anatomical entity", + "musculoskeletal system", + "material anatomical entity", + "abnormal knee morphology", + "Abnormal respiratory system morphology", + "shape anatomical entity", + "skeleton of limb", + "Abnormal pulmonary interstitial morphology", + "vasculature", + "Abnormal long bone morphology", + "hindlimb zeugopod", + "Abnormal urine carboxylic acid level", + "decreased level of chemical entity", + "abnormal phosphate level", + "subdivision of skeletal system", + "entity", + "curved hindlimb zeugopod", + "kidney", + "articulation", + "blood vessel", + "multi-limb segment region", + "abnormal diaphysis morphology", + "lateral structure", + "anatomical structure", + "Bowing of the long bones", + "anatomical conduit", + "polypeptide", + "abnormal limb", + "Abnormality of bone mineral density", + "endochondral element", + "hindlimb joint", + "trunk", + "oxoacid derivative", + "Abnormality of the calf", + "Hyperchloremic acidosis", + "Abnormal bone structure", + "Abnormal renal physiology", + "chalcogen molecular entity", + "abnormal knee", + "abnormal anatomical entity mass density", + "decreased level of chemical entity in blood", + "shape hindlimb zeugopod", + "Phenotypic abnormality", + "Elevated urinary carboxylic acid", + "skeleton", "Neoplasm by anatomical site", - "delayed biological_process", - "Irregular hyperpigmentation", - "Hypermelanotic macule", - "abnormal response to stress", - "Cafe-au-lait spot", - "Localized skin lesion", - "Strabismus", - "circulatory organ", - "thoracic segment organ", - "heart plus pericardium", - "Abnormality of cardiovascular system morphology", - "primary circulatory organ", - "vasculature", - "cardiovascular system", - "Internal hemorrhage", - "thoracic segment of trunk", - "vascular system", + "p-block molecular entity", "abnormality of cardiovascular system physiology", - "Abnormality of the vasculature", - "Abnormal cardiovascular system physiology", - "abnormal cardiovascular system", - "circulatory system process", - "Complete duplication of phalanx of hand", - "Duplication of hand bones", - "manual digit digitopodial skeleton", - "skeleton of manual acropodium", - "Abnormal long bone morphology", - "Abnormality of thumb phalanx", - "Abnormal finger phalanx morphology", - "sensory perception of sound", - "abnormal phalanx of manus morphology", - "phalanx", - "digitopodium bone", - "U-shaped anatomical entity", - "manual digit 1 phalanx endochondral element", - "Duplication of phalanx of hand", - "individual digit of digitopodial skeleton", - "Duplication of thumb phalanx", - "biological regulation", - "abnormal primary metabolic process", - "Leukemia", - "Chromosomal breakage induced by crosslinking agents", - "organic substance metabolic process", - "regulation of cellular process", - "regulation of metabolic process", - "Vascular skin abnormality", - "negative regulation of biological process", - "Generalized abnormality of skin", - "nucleobase-containing compound metabolic process", - "organic cyclic compound metabolic process", - "obsolete heterocycle metabolic process", - "immaterial entity", - "obsolete cellular aromatic compound metabolic process", - "obsolete cellular nitrogen compound metabolic process", - "response to stress", - "cellular component organization", - "regulation of biosynthetic process", - "regulation of cellular metabolic process", - "negative regulation of cellular process", - "organelle organization", - "regulation of gene expression", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "programmed DNA elimination", - "cellular metabolic process", - "negative regulation of gene expression", - "Chromosome breakage", - "regulation of cellular biosynthetic process", - "negative regulation of biosynthetic process", - "negative regulation of macromolecule metabolic process", - "negative regulation of cellular metabolic process", - "DNA metabolic process", - "decreased multicellular organism mass", - "growth", - "Hearing impairment", - "Decreased body weight", - "Small for gestational age", - "Decreased multicellular organism mass", - "visual system", - "manual digit 1 phalanx", - "chromatin organization", - "sensory system", - "eye", - "face", - "orbital region", - "Aplasia/Hypoplasia affecting the eye", - "Microphthalmia", - "subdivision of head", - "entire sense organ system", - "camera-type eye", - "negative regulation of metabolic process", - "abnormal camera-type eye morphology", - "Abnormality of globe size", - "Abnormality of the eye", - "primary metabolic process", - "abnormal enucleated reticulocyte morphology", - "abnormal vasculature", - "Abnormal reticulocyte morphology", - "Complete duplication of thumb phalanx", - "abnormal number of anatomical enitites of type reticulocyte", - "anatomical line between pupils", - "abnormally decreased number of reticulocyte", - "Short finger", - "decreased size of the anatomical entity in the pectoral complex", - "Neurodevelopmental delay", - "decreased size of the anatomical entity in the independent continuant", - "decreased length of manual digit", - "sensory perception", - "decreased length of anatomical entity", - "decreased length of manual digit 1", - "Short digit", - "autopod endochondral element", - "autopod bone", - "phalanx of manus", - "decreased length of anatomical entity in independent continuant", - "decreased length of digit", - "decreased size of the anatomical entity", - "aplastic forelimb zeugopod bone", - "absent forelimb zeugopod bone", - "sensory perception of mechanical stimulus", - "Aplasia involving forearm bones", - "abnormal limb long bone morphology", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "abnormal forelimb zeugopod bone", - "body part movement", - "absent radius bone in the forelimb", - "manual digit 1 digitopodial skeleton", - "abnormal forelimb zeugopod morphology", - "abnormal long bone morphology", - "Abnormal forearm bone morphology", - "behavior process", - "Aplasia/hypoplasia involving forearm bones", - "absent radius bone in the independent continuant", - "absent radius bone", + "limb", + "curved anatomical entity", + "paired limb/fin", + "bone element", + "Renal fibrosis", + "abnormal hindlimb morphology", + "independent continuant", + "multicellular anatomical structure", + "posterior region of body", + "Metabolic acidosis", "zeugopod", - "macromolecule metabolic process", - "bone of pectoral complex", - "Atypical behavior", - "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "abnormal bone of pectoral complex morphology", - "Abnormal upper limb bone morphology", - "arm bone", - "forelimb long bone", - "radius bone", - "Aplasia involving bones of the extremities", - "long bone", - "Absent forearm bone", - "abnormal number of anatomical enitites of type sperm", - "abnormality of male reproductive system physiology", - "gamete", - "semen", - "developmental process", - "reproduction", - "Abnormal internal genitalia", - "Abnormal testis morphology", - "developmental process involved in reproduction", - "multicellular organismal reproductive process", - "abnormal reproductive process", - "decreased qualitatively developmental process", - "absent anatomical entity in the semen", - "gamete generation", - "abnormal male reproductive system morphology", - "spermatogenesis", - "absent sperm", - "zeugopodial skeleton", - "male gamete generation", - "abnormally localised testis", - "Global developmental delay", - "abnormal multicellular organismal reproductive process", - "absent gamete", - "manual digit bone", - "decreased spermatogenesis", - "abnormal male reproductive system", - "decreased qualitatively sensory perception of sound", - "absent sperm in the semen", - "obsolete multicellular organism reproduction", - "Azoospermia", - "Abnormality of the male genitalia", - "sperm", - "external genitalia", - "anatomical cluster", - "internal genitalia", - "abnormal reproductive system morphology", - "decreased qualitatively biological_process", - "Abnormal spermatogenesis", - "vestibulo-auditory system", - "forelimb endochondral element", - "absent germ cell", - "abnormal internal genitalia", - "external male genitalia", - "abnormal external male genitalia", - "decreased qualitatively reproductive process", - "decreased developmental process", - "abnormal developmental process", - "abnormality of internal male genitalia physiology", - "abnormal gamete generation", - "abnormal heart morphology", - "abnormal external genitalia", - "abnormal developmental process involved in reproduction", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "abnormal orbital region", - "bone marrow cell", - "obsolete nitrogen compound metabolic process", - "platelet", - "biogenic amine secreting cell", - "Short thumb", - "germ line cell", - "bone cell", - "sexual reproduction", - "anucleate cell", - "abnormal male reproductive organ morphology", - "bone marrow", - "secretory cell", - "manual digit phalanx endochondral element", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", - "abnormal bone marrow cell morphology", - "Abnormality of bone marrow cell morphology", - "decreased biological_process", - "serotonin secreting cell", - "forelimb bone", - "Abnormality of thrombocytes", - "abnormal platelet", - "Anemia", - "tissue", - "abnormal erythroid lineage cell morphology", - "nucleic acid metabolic process", - "Absent radius", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "absent kidney in the renal system", - "absent kidney", - "abnormal DNA metabolic process", - "abnormal chromatin organization", - "forelimb", - "abnormal anatomical entity morphology in the skeleton of manus", - "autopodial skeleton", - "abnormal blood circulation", - "Abnormal morphology of the radius", + "skeletal element", + "appendage girdle complex", + "abnormal hindlimb zeugopod morphology", + "limb endochondral element", "bone of free limb or fin", - "abnormal anatomical entity", - "motile cell", - "paired limb/fin", - "abnormal anatomical entity morphology in the manus", - "pectoral appendage", - "abnormal anatomical entity morphology in the pectoral complex", - "central nervous system", - "absent anatomical entity", - "abnormal manus", - "Finger aplasia", - "digitopodium region", - "multi-limb segment region", - "trunk", - "digit 1 plus metapodial segment", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "male reproductive system", - "abnormal cell morphology", - "limb bone", - "abnormal arm", - "Abnormality of skull size", - "Abnormal digit morphology", - "aplasia or hypoplasia of manual digit", - "absent anatomical entity in the skeletal system", - "Abnormal platelet count", - "abnormal forelimb morphology", - "autopodial extension", - "abnormal platelet morphology", - "Abnormality of reproductive system physiology", - "digit plus metapodial segment", - "erythrocyte", - "abnormal limb bone morphology", - "Aplasia/hypoplasia involving bones of the hand", - "G2 phase", - "manual digitopodium region", - "skeleton of digitopodium", - "skeleton of pectoral complex", - "abnormal appendicular skeleton morphology", - "Eumetazoa", - "segment of autopod", - "shape anatomical entity", - "Subcutaneous hemorrhage", - "regional part of nervous system", - "abnormal head", - "digit 1", - "Abnormal erythroid lineage cell morphology", - "male reproductive organ", - "reproductive structure", - "cell cycle", - "abnormal reproductive system", - "manual digit 1 or 5", - "Abnormal platelet morphology", - "abnormally decreased number of platelet", - "Aplasia involving bones of the upper limbs", - "system", + "increased level of organic molecular entity in independent continuant", + "abnormal limb bone", + "shape long bone", + "lung fibrosis", + "Organic aciduria", + "Abnormal diaphysis morphology", + "Abnormal DLCO", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "abnormal urine chemical entity level", + "monoatomic ion homeostasis", + "Abnormal knee morphology", + "abnormality of respiratory system physiology", + "polyatomic entity", + "epithelial tube", + "respiratory system", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "Abnormality of the respiratory system", + "abnormal respiratory system", + "abnormality of anatomical entity physiology", + "lower respiratory tract", + "Abnormality of lower limb joint", + "anatomical system", + "Abnormal lung morphology", + "haemolymphatic fluid", "subdivision of organism along main body axis", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the hand", - "Abnormal hand morphology", - "abnormal manual digit morphology in the independent continuant", - "aplasia or hypoplasia of skeleton", - "forelimb skeleton", - "Intellectual disability", - "absent manual digit", - "digit 1 or 5", - "arm", + "Bowing of the legs", + "Abnormality of the skeletal system", + "abnormal independent continuant phosphate level", + "lung", + "abnormal kidney morphology", + "main body axis", + "organic acid", + "abnormal hindlimb zeugopod", + "ossification", + "Abnormal circulating metabolite concentration", + "pelvic appendage", + "endoderm-derived structure", + "pair of lungs", + "abnormal respiratory system morphology", + "viscus", + "increased level of glucose in urine", + "Decreased DLCO", + "body proper", + "trunk region element", + "knee", + "Hypophosphatemic rickets", + "respiratory airway", + "multicellular organism", + "hematopoietic system", + "thoracic cavity element", + "abnormal monoatomic ion homeostasis", + "anatomical entity fibrosis", + "Abnormality of metabolism/homeostasis", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "abnormal nephron morphology", + "Rickets", + "multi organ part structure", + "hemolymphoid system", + "abnormal bone element mass density", + "appendicular skeletal system", + "abnormal chemical entity level", + "process", + "carbohydrate", + "biological_process", + "increased bodily fluid role level", + "abnormal role independent continuant level", + "inorganic ion homeostasis", + "Reduced bone mineral density", + "abnormal chemical homeostasis", + "pnictogen molecular entity", + "Abnormality of the musculoskeletal system", + "abnormal phosphate ion homeostasis", + "metabolic process", + "bodily fluid", + "abnormal blood monoatomic ion level", + "respiration organ", + "increased bodily fluid acid level", + "abnormal blood chemical entity level", + "monoatomic entity", + "abnormal acid independent continuant level", + "organism substance", + "kidney epithelium", + "phosphorus oxoacids and derivatives", + "compound organ", + "Abnormal blood phosphate concentration", + "abnormal independent continuant chemical entity level", + "Pulmonary fibrosis", + "carbon group molecular entity", + "primary amide", + "elemental molecular entity", + "phosphorus oxoacid derivative", + "decreased level of phosphate in blood", + "ion", + "Abnormality on pulmonary function testing", + "proximo-distal subdivision of respiratory tract", + "abnormal homeostatic process", + "abnormal role bodily fluid level", + "abnormal biological_process", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "Neoplasm of the lung", + "abnormality of renal system physiology", + "quality", + "phosphoric acid derivative", + "phosphorus molecular entity", + "decreased level of chemical entity in independent continuant", + "Abnormal cardiovascular system physiology", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "paired limb/fin skeleton", + "heteroatomic molecular entity", + "chemical entity", + "increased independent continuant acid level", + "phosphate", + "abnormal multicellular organism chemical entity level", + "abnormality of kidney physiology", + "main group molecular entity", + "Decreased bone element mass density", + "abnormal acid bodily fluid level", + "Acidosis", + "increased level of chemical entity in independent continuant", + "increased level of chemical entity in bodily fluid", + "increased level of chemical entity", + "increased independent continuant role level", + "peptide", + "continuant", + "protein polypeptide chain", + "circulatory system", + "abnormal independent continuant monoatomic ion level", + "excretory system" + ], + "has_phenotype_count": 14, + "highlight": null, + "score": null + }, + { + "id": "HP:0001994", + "category": "biolink:PhenotypicFeature", + "name": "Renal Fanconi syndrome", + "full_name": null, + "deprecated": null, + "description": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.", + "xref": [ + "MSH:D005198", + "SNOMEDCT_US:236468006", + "SNOMEDCT_US:44673006", + "UMLS:C0341703" + ], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [ + "De toni-fanconi-debre syndrome", + "Renal tubular fanconi syndrome" + ], + "uri": null, + "iri": null, + "namespace": "HP", + "has_phenotype": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": 0, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0014638", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group T", + "full_name": null, + "deprecated": null, + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.", + "xref": ["DOID:0111081", "GARD:16111", "OMIM:616435", "UMLS:C4084840"], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [ + "FANCT", + "Fanconi Anemia, complementation group type T", + "Fanconi anaemia caused by mutation in UBE2T", + "Fanconi anaemia complementation group type T", + "Fanconi anemia caused by mutation in UBE2T", + "Fanconi anemia complementation group type T", + "Fanconi anemia, complementation group T", + "UBE2T Fanconi anaemia", + "UBE2T Fanconi anemia" + ], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0004808", + "HP:0001876", + "HP:0001873", + "HP:0009778", + "HP:0005528", + "HP:0009942", + "HP:0001903", + "HP:0003221", + "HP:0004322", + "HP:0000365", + "HP:0010628" + ], + "has_phenotype_label": [ + "Acute myeloid leukemia", + "Pancytopenia", + "Thrombocytopenia", + "Short thumb", + "Bone marrow hypocellularity", + "Duplication of thumb phalanx", + "Anemia", + "Chromosomal breakage induced by crosslinking agents", "Short stature", - "Abnormality of limb bone", - "abnormal size of eyeball of camera-type eye", - "abnormal face", - "aplastic anatomical entity", - "abnormal eye movement", - "subdivision of organism along appendicular axis", - "cellular response to stress", - "absent anatomical entity in the independent continuant", - "agenesis of anatomical entity", - "bone of appendage girdle complex", - "manual digit", - "Abnormality of limb bone morphology", - "glandular system", - "skull", - "endocrine system", - "abnormal endocrine system", - "Abnormality of the cell cycle", - "Abnormal appendicular skeleton morphology", - "renal system", - "Hypergonadotropic hypogonadism", - "reproductive organ", - "shape kidney", - "Abnormal forearm morphology", - "abnormally decreased number of anatomical entity", - "Hypogonadism", - "endochondral bone", - "abnormal limb bone", - "abnormally decreased functionality of the gonad", - "regional part of brain", - "abnormality of reproductive system physiology", - "digit 1 digitopodial skeleton", - "gonad", - "heart", - "upper limb segment", - "Abnormality of the genital system", - "decreased anatomical entity mass", - "increased pigmentation", - "anatomical entity dysfunction in independent continuant", - "increased pigmentation in skin of body", - "manual digit 1", - "cellular process", + "Hearing impairment", + "Facial palsy" + ], + "has_phenotype_closure": [ + "UPHENO:0080556", + "UBERON:0034713", + "UPHENO:0076702", + "HP:0001324", + "UPHENO:0076772", + "UBERON:0001021", + "UBERON:0005162", + "HP:0012638", + "HP:0011799", + "UBERON:0004473", + "UPHENO:0076710", + "HP:0001291", + "UPHENO:0086589", + "UBERON:0002376", + "UBERON:0001577", + "UBERON:0000010", + "UPHENO:0076722", + "UPHENO:0004523", + "UPHENO:0081709", + "UPHENO:0003587", + "HP:0410008", + "UPHENO:0002910", + "UPHENO:0087907", + "UPHENO:0080555", + "UBERON:0000122", + "UPHENO:0002908", + "UPHENO:0002816", + "UBERON:0015789", + "UBERON:0001785", + "UBERON:0000383", + "UBERON:0014892", + 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"UPHENO:0020584", + "UBERON:0002091", + "UBERON:0013702", + "HP:0002813", + "CL:0000764", + "UBERON:0013700", + "UPHENO:0002896", + "UBERON:0011250", + "CL:0000458", + "CL:0000763", + "HP:0001873", + "UBERON:0002371", + "UBERON:0010708", + "HP:0006265", + "HP:0009778", + "HP:0006496", + "UBERON:0001434", + "UPHENO:0085344", + "HP:0001881", + "HP:0040012", + "UBERON:0004765", + "UPHENO:0086005", + "UBERON:0000467", + "HP:0005922", + "UPHENO:0084987", + "UBERON:5001463", + "UPHENO:0085068", + "UBERON:0006058", + "GO:0034641", + "HP:0011893", + "UPHENO:0087355", + "HP:0020047", + "CL:0002092", + "UBERON:0007272", + "GO:0006807", + "UPHENO:0006910", + "HP:0012145", + "UBERON:5102389", + "UBERON:0004288", + "UPHENO:0085144", + "BFO:0000040", + "UPHENO:0001005", + "HP:0000707", + "UPHENO:0005116", + "UPHENO:0086172", + "HP:0009115", + "UPHENO:0087501", + "UPHENO:0086173", + "UPHENO:0050625", + "RO:0002577", + "UPHENO:0076703", + "HP:0003011", + "HP:0002715", + "PATO:0000001", + "UBERON:0011249", + "UPHENO:0076692", + "UPHENO:0002536", + "HP:0001876", + "UPHENO:0085371", + "HP:0045010", + "CL:0000457", + "HP:0025354", + "UBERON:0001442", + "HP:0000001", + "UPHENO:0085302", + "GO:0044238", + "UPHENO:0088170", + "UPHENO:0001001", + "UBERON:0002398", + "GO:0010605", + "GO:0009892", + "HP:0011844", + "UPHENO:0080079", + "UBERON:0002428", + "UPHENO:0004459", + "UPHENO:0002433", + "CL:0000233", + "UPHENO:0031839", + "HP:0032251", + "HP:0009381", + "UBERON:0005090", + "UBERON:0000468", + "HP:0001877", + "UBERON:0001463", + "HP:0012639", + "HP:0000364", + "BFO:0000002", + "UBERON:0006048", + "UPHENO:0076724", + "UBERON:0000061", + "GO:0090304", + "UPHENO:0015280", + "UPHENO:0049873", + "UBERON:0000153", + "HP:0005561", + "UBERON:0003620", + "UBERON:0010314", + "UBERON:0001062", + "UBERON:0010707", + "UPHENO:0002964", + "UBERON:0002101", + "UPHENO:0088166", + "BFO:0000001", + "UPHENO:0087339", + "HP:0011805", + "HP:0002488", + "UPHENO:0078606", + "HP:0002664", + "HP:0011873", + "CL:0000232", + "CL:0000081", + "HP:0000118", + "HP:0011017", + "UBERON:0012141", + "UPHENO:0002708", + "GO:0010556", + "PR:000050567", + "UPHENO:0084761", + "CL:0002242", + "UPHENO:0001002", + "UPHENO:0081423", + "UBERON:0015203", + "UPHENO:0050845", + "HP:0004377", + "UBERON:0002390", + "UBERON:0010000", + "UBERON:0000479", + "UBERON:5006048", + "CL:0000255", + "GO:0010558", + "UBERON:0008785", + "UPHENO:0004508", + "UBERON:0002193", + "HP:0009142", + "HP:0006824", + "UPHENO:0080352", + "UBERON:0002405", + "UBERON:0000026", + "UBERON:0001630", + "HP:0033127", + "UPHENO:0086635", + "UPHENO:0002844", + "UPHENO:0049587", + "UBERON:0019231", + "CL:0000988", + "UBERON:0008229", + "UBERON:0010959", + "UBERON:0000465", + "BFO:0000004", + "UBERON:0015024", + "HP:0002817", + "UBERON:0000062", + "HP:0011793", + "UBERON:0002544", + "BFO:0000020", + "UPHENO:0087123", + "HP:0001909", + "UBERON:0015063", + "UBERON:5002389", + "UPHENO:0086049", + "UBERON:0003607", + "UPHENO:0084928", + "UPHENO:0002948", + "HP:0004808", + "HP:0001871", + "UBERON:0001444", + "HP:0011842", + "UPHENO:0075696", + "UBERON:0002470", + "CL:0000000", + "UBERON:0012354", + "GO:0065007", + "UPHENO:0085070", + "HP:0009602", + "UBERON:0011779", + "UPHENO:0077426", + "UPHENO:0087006", + "UPHENO:0085984", + "UPHENO:0002903", + "HP:0011875", + "UBERON:0005451", + "UBERON:0012140", + "HP:0010628", + "UPHENO:0085195", + "UBERON:0012475", + "UPHENO:0087369", + "UBERON:0000475", + "UBERON:0012151", + "UPHENO:0080099", + "HP:0040064", + "HP:0001167", + "UBERON:0003606", + "UBERON:0010538", + "UPHENO:0005433", + "UPHENO:0080114", + "GO:0006325", + "HP:0011927", + "UPHENO:0085118", + "UPHENO:0012274", + "GO:0048519", + "HP:0011314", + "CL:0000225", + "UBERON:0010912", + "UPHENO:0052178", + "UPHENO:0002240", + "UBERON:0011582", + "HP:0000301", + "UPHENO:0080126", + "GO:0046483", + "UPHENO:0084766", + "UBERON:0015212", + "HP:0001155", + "HP:0004322", + "UBERON:0015061", + "UBERON:0005897", + "UBERON:0004375", + "UPHENO:0001003", + "UBERON:0006717", + "UBERON:0002495", + "UBERON:0002102", + "UPHENO:0086633", + "HP:0045060", + "GO:0071824", + "UPHENO:0021800", + "HP:0001172", + "UBERON:0000075", + "HP:0009815", + "UPHENO:0088186", + "UBERON:0010712", + "UBERON:0003221", + "UPHENO:0084763", + "UBERON:0012358", + "UPHENO:0049700", + "HP:0005927", + "UBERON:0004120", + "UBERON:0010543", + "UPHENO:0086045", + "UPHENO:0076727", + "GO:0031323", + "UBERON:0002513", + "UBERON:0019221", + "UBERON:0002529", + "UPHENO:0046707", + "UPHENO:0012541", + "UBERON:0012139", + "UPHENO:0086700", + "UBERON:0012357", + "UPHENO:0079876", + "UPHENO:0076740", + "GO:0044237", + "UBERON:0010363", + "UPHENO:0046624", + "UPHENO:0076723", + "HP:0040068", + "UPHENO:0075159", + "UPHENO:0002880", + "HP:0001903", + "UBERON:0034925", + "UBERON:0004708", + "UBERON:5002544", + "CL:0000738", + "UBERON:0005881", + "UBERON:0010758", + "UPHENO:0079872", + "UPHENO:0046505", + "UPHENO:0075195", + "UPHENO:0084448", + "UBERON:0004710", + "UPHENO:0011498", + "UBERON:0004249", + "UBERON:0002389", + "UBERON:0001033", + "UBERON:0001690", + "UBERON:0010740", + "HP:0005528", + "UBERON:0010688", + "UBERON:5106048", + "UBERON:0004461", + "UBERON:0015021", + "UBERON:0018254", + "UPHENO:0086956", + "BFO:0000003", + "HP:0009942", + "HP:0031910", + "UBERON:5101463", + "UBERON:0011676", + "HP:0009997", + "UBERON:0015023", + "UBERON:0004381", + "UBERON:0008962", + "UPHENO:0085189", + "UBERON:5102544", + "UPHENO:0046411", + "UBERON:0001436", + "UPHENO:0081700", + "UBERON:0015025", + "UBERON:0011216", + "UBERON:0012150", + "UPHENO:0081424", + "UBERON:0010741" + ], + "has_phenotype_closure_label": [ + "skeletal musculature", + "Abnormality of facial soft tissue", + "abnormal muscle organ morphology", + "cranial neuron projection bundle", + "Abnormality of the nervous system", + "decreased muscle organ strength", + "nerve", + "musculature of body", + "neuron projection bundle", + "Abnormal peripheral nervous system morphology", + "Weakness of facial musculature", + "Muscle weakness", + "abnormal peripheral nervous system morphology", + "abnormal nerve", + "decreased anatomical entity strength", + "facial muscle", + "cranial muscle", + "abnormal head morphology", + "subdivision of head", + "Abnormality of the seventh cranial nerve", + "Cranial nerve paralysis", + "Abnormal cranial nerve morphology", + "abnormal craniocervical region morphology", + "abnormal facial nerve", + "gustatory system", + "nervous system", + "nerve of head region", + "multi cell part structure", + "Abnormal skeletal muscle morphology", + "cranial or facial muscle", + "skeletal muscle organ, vertebrate", + "paralysed cranial nerve", + "abnormal nervous system", + "abnormal musculature", + "Abnormal cranial nerve physiology", + "decreased qualitatively sensory perception of mechanical stimulus", + "sensory perception of mechanical stimulus", + "sensory perception", + "decreased sensory perception of sound", + "Abnormality of the ear", + "Hearing abnormality", + "sensory system", + "abnormality of anatomical entity physiology", + "Abnormality of head or neck", + "abnormal peripheral nervous system", + "body proper", + "ear", + "changed biological_process rate", + "abnormality of ear physiology", + "musculature", + "Hearing impairment", + "main body axis", + "subdivision of organism along main body axis", + "nervous system process", + "Abnormality of the head", + "growth", + "delayed biological_process", + "Abnormality of the face", + "decreased height of the anatomical entity", + "Growth delay", + "decreased size of the multicellular organism", + "Abnormality of body height", + "delayed growth", + "decreased height of the multicellular organism", + "system process", + "abnormality of multicellular organism height", + "abnormal primary metabolic process", "Abnormality of metabolism/homeostasis", - "Bruising susceptibility", + "negative regulation of biosynthetic process", + "regulation of macromolecule biosynthetic process", + "DNA metabolic process", + "protein-DNA complex organization", + "regulation of cellular biosynthetic process", + "biological regulation", + "abnormal organelle organization", + "programmed DNA elimination", + "regulation of macromolecule metabolic process", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "nucleic acid metabolic process", + "protein-containing complex organization", + "regulation of biological process", + "obsolete nitrogen compound metabolic process", "cellular component organization or biogenesis", - "Abnormality of the face", - "Phenotypic abnormality", - "abnormal digit morphology", - "Abnormality of the genitourinary system", - "cell cycle phase", - "decreased size of the eyeball of camera-type eye", - "appendage girdle complex", - "abnormal anatomical entity topology in independent continuant", - "limb segment", - "Macule", - "Abnormality of the cardiovascular system", - "skin of body", + "Abnormality of the peripheral nervous system", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "Abnormal muscle physiology", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", "abnormal biological_process", - "multi-tissue structure", + "Abnormality of chromosome stability", + "abnormality of nervous system physiology", + "organic substance metabolic process", "Abnormal cellular physiology", - "Aplasia/hypoplasia of the extremities", - "biological phase", - "obsolete cell", - "interphase", - "Prolonged G2 phase of cell cycle", - "upper urinary tract", - "skeletal system", - "abnormally decreased functionality of the anatomical entity", - "abnormal ear", - "abdominal segment element", - "abnormal cell cycle", - "Abnormality of the upper limb", - "absent anatomical entity in the limb", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "DNA repair", - "Abnormality of the skeletal system", - "digit", - "abdominal segment of trunk", - "abnormal renal collecting system", - "Abnormal cellular immune system morphology", - "Duplicated collecting system", - "viscus", - "integumental system", - "reproductive process", - "abnormal pigmentation", - "Hyperpigmentation of the skin", - "increased qualitatively biological_process in independent continuant", - "reticulocyte", - "abnormal central nervous system morphology", - "increased biological_process", - "abnormal metabolic process", - "changed biological_process rate", - "abnormal integument", - "abnormal growth", - "increased biological_process in skin of body", - "abnormal eyeball of camera-type eye", - "abnormal pigmentation in independent continuant", - "abnormal biological_process in independent continuant", - "abnormal skin of body morphology", - "abnormal sensory perception of sound", - "abnormal testis morphology", - "reproductive system", - "absent anatomical entity in the forelimb", - "abnormal skin of body", - "testis", - "craniocervical region", + "Chromosomal breakage induced by crosslinking agents", + "metabolic process", "abnormal cellular process", - "abnormal programmed DNA elimination by chromosome breakage", - "Abnormal leukocyte morphology", - "Abnormality of brain morphology", - "abnormally decreased number of leukocyte", - "skeletal element", - "Abnormality of mental function", - "Abnormality of the head", - "Abnormal reproductive system morphology", - "Pancytopenia", - "Morphological central nervous system abnormality", - "manus bone", - "Absent thumb", - "skeleton", - "abnormal anatomical entity morphology in the brain", - "Abnormality of body weight", - "abnormal telencephalon morphology", - "Abnormal conjugate eye movement", - "organ system subdivision", - "process", - "aplasia or hypoplasia of radius bone", - "main body axis", - "cellular organisms", - "organism", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "absent kidney in the independent continuant", - "manual digit plus metapodial segment", - "phalanx endochondral element", - "limb skeleton subdivision", - "Microcephaly", - "immune system", - "abnormal craniocervical region", - "postcranial axial skeletal system", - "paired limb/fin skeleton", - "Abnormal cerebral morphology", - "Non-obstructive azoospermia", - "absent anatomical entity in the multicellular organism", - "anterior region of body", - "Abnormality of the integument", - "paired limb/fin segment", - "abnormally decreased number of neutrophil", - "granulocyte", - "abnormally decreased number of hematopoietic cell", - "Eukaryota", - "forebrain", - "Abnormality of multiple cell lineages in the bone marrow", - "anatomical collection", - "abnormal skull morphology", - "musculoskeletal system", - "abnormally localised anatomical entity in independent continuant", - "appendicular skeleton", - "Abnormal axial skeleton morphology", - "abnormal autopod region morphology", - "behavior", - "blood cell", - "erythroid lineage cell", - "abnormal size of anatomical entity", - "abnormal number of anatomical enitites of type platelet", - "hematopoietic system", - "abnormal forebrain morphology", - "haploid cell", - "Abnormal renal morphology", - "Abnormality of limbs", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "root", - "Abnormal neutrophil count", - "abnormal organelle organization", - "abnormal head morphology", - "head", - "abnormally decreased number of granulocyte", - "abnormal sensory perception", - "Neurodevelopmental abnormality", - "Abnormal skull morphology", - "Neoplasm", - "abnormal bone marrow cell", - "system process", - "Abnormal granulocyte morphology", - "protein-containing material entity", + "regulation of cellular process", + "negative regulation of biological process", + "nucleobase-containing compound metabolic process", + "abnormal facial muscle", + "multicellular organismal process", + "obsolete cellular aromatic compound metabolic process", + "organelle organization", + "obsolete cellular nitrogen compound metabolic process", + "cellular component organization", + "face", + "Growth abnormality", + "programmed DNA elimination by chromosome breakage", + "regulation of gene expression", + "negative regulation of cellular biosynthetic process", + "chromatin organization", "biological_process", - "subdivision of skeleton", - "circulatory system", - "sense organ", - "subdivision of skeletal system", - "male gamete", - "ectoderm-derived structure", - "telencephalon", - "manual digit 1 plus metapodial segment", - "Duplication of bones involving the upper extremities", - "abnormal postcranial axial skeleton morphology", - "eyeball of camera-type eye", - "changed biological_process rate in independent continuant", - "Thrombocytopenia", - "abnormal craniocervical region morphology", - "All", - "organism substance", - "Aplasia/Hypoplasia involving the central nervous system", - "protein-DNA complex organization", + "Chromosome breakage", + "abnormal chromatin organization", + "abnormal erythroid lineage cell morphology", + "Abnormal erythrocyte morphology", + "abnormal erythrocyte morphology", + "anterior region of body", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "abnormal myeloid cell morphology", + "limb bone", + "musculature of face", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal number of anatomical enitites of type anatomical entity", + "craniocervical muscle", + "Abnormality of multiple cell lineages in the bone marrow", + "Abnormal nervous system morphology", + "sense organ", + "abnormal limb bone", + "abnormal skeletal system", + "abnormal phalanx of manus morphology", + "occurrent", "organ", - "programmed DNA elimination by chromosome breakage", - "abnormal bone marrow morphology", - "organism subdivision", - "abnormal gamete", + "obsolete heterocycle metabolic process", + "erythroid lineage cell", + "forelimb endochondral element", + "multicellular anatomical structure", + "cellular process", + "Abnormal digit morphology", "Abnormal nervous system physiology", - "thoracic cavity element", - "Abnormality of the kidney", - "cavitated compound organ", - "Abnormality of the musculoskeletal system", - "abnormal size of skull", - "abnormal limb", - "trunk region element", - "pectoral complex", - "abnormal hematopoietic system", - "Anemic pallor", - "absent anatomical entity in the renal system", - "abdomen", - "acropodial skeleton", - "abnormal kidney", - "nervous system process", - "body proper", - "forelimb zeugopod", - "Abnormal nervous system morphology", - "genitourinary system", - "abnormality of anatomical entity mass", - "abnormal cell", - "bone element", - "abnormal nervous system morphology", - "abnormal cardiovascular system morphology", - "Abnormal eye morphology", - "Abnormality of head or neck", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/hypoplasia involving bones of the extremities", - "skeleton of manual digitopodium", - "axial skeletal system", - "abnormality of nervous system physiology", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal genitourinary system", - "Abnormality of the upper urinary tract", - "enucleated reticulocyte", - "forelimb zeugopod bone", - "quality", - "aplasia or hypoplasia of anatomical entity", - "regulation of biological process", - "Abnormal thumb morphology", - "oxygen accumulating cell", - "Abnormal localization of kidney", - "subdivision of trunk", - "abdomen element", + "abnormal hematopoietic system morphology", + "tissue", + "entire sense organ system", + "continuant", + "manual digitopodium region", + "abnormal anatomical entity morphology in the manus", + "facial nerve", + "Abnormality of the skeletal system", + "decreased size of the anatomical entity", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormal platelet morphology", + "abnormal sensory perception of sound", + "Abnormal platelet count", + "muscle structure", + "material anatomical entity", + "abnormal number of anatomical enitites of type platelet", + "limb endochondral element", + "Abnormal leukocyte count", "autopod region", - "compound organ", - "Abnormal renal collecting system morphology", - "male germ cell", - "limb", - "lateral structure", - "Cryptorchidism", + "skeleton", + "manual digit bone", + "negative regulation of cellular metabolic process", + "abnormal bone marrow cell morphology", + "decreased length of anatomical entity", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "decreased length of anatomical entity in independent continuant", + "eukaryotic cell", + "skeleton of pectoral complex", + "Pancytopenia", + "bone marrow", + "acropodium region", + "Abnormal cellular immune system morphology", + "myeloid cell", + "immune system", + "abnormal nervous system morphology", + "abnormal cell morphology", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "blood cell", + "paired limb/fin segment", + "abnormal cranial nerve morphology", + "cellular metabolic process", + "biogenic amine secreting cell", + "abnormal blood cell morphology", + "negative regulation of gene expression", + "Phenotypic abnormality", + "Abnormality of bone marrow cell morphology", + "abnormal limb bone morphology", + "serotonin secreting cell", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "abnormality of cranial nerve physiology", + "abnormal appendicular skeleton morphology", + "abnormal platelet", + "structure with developmental contribution from neural crest", + "long bone", + "Duplication of bones involving the upper extremities", "non-connected functional system", + "Abnormal leukocyte morphology", + "Abnormal upper limb bone morphology", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "Abnormal platelet morphology", + "decreased biological_process", + "Short stature", + "Aplasia/hypoplasia of the extremities", + "aplasia or hypoplasia of manual digit", + "digit 1", + "skeletal system", + "motile cell", + "Abnormal peripheral nerve morphology by anatomical site", + "Abnormality of facial musculature", + "abnormal growth", "abnormal leukocyte morphology", - "abnormally localised anatomical entity", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "phenotype", - "abnormal renal system", - "postcranial axial skeleton", - "abnormally localised kidney", - "absent digit", - "Abnormality of blood and blood-forming tissues", - "anatomical structure", - "Abnormality of the urinary system", - "Decreased anatomical entity mass", - "Abnormality of skin morphology", - "multicellular organismal process", - "Abnormal myeloid cell morphology", - "increased pigmentation in independent continuant", + "independent continuant", + "organic cyclic compound metabolic process", "manual digitopodium bone", - "abnormal skeletal system morphology", - "absent sperm in the independent continuant", - "internal male genitalia", - "occurrent", - "Metazoa", - "Cognitive impairment", - "abnormal nervous system", - "abnormal cellular component organization", - "appendicular skeletal system", - "Abnormality of the nervous system", - "abnormal cellular metabolic process", - "acropodium region", - "pectoral appendage skeleton", - "nucleate cell", - "Abnormality of the orbital region", + "segment of autopod", "Abnormal cellular phenotype", - "entity", - "abnormal number of anatomical enitites of type hematopoietic cell", - "pigmentation", - "myeloid leukocyte", - "germ cell", - "abnormal spermatogenesis", - "segment of manus", + "skeleton of manus", + "Short finger", + "craniocervical region musculature", + "Abnormality of blood and blood-forming tissues", + "abnormal hematopoietic cell morphology", + "regulation of biosynthetic process", + "acropodial skeleton", "abnormal anatomical entity morphology in the independent continuant", - "abnormal neutrophil", - "abnormal blood cell", - "Functional abnormality of male internal genitalia", - "increased biological_process in independent continuant", - "abnormally decreased number of cell in the independent continuant", - "abnormally decreased number of cell", - "cranial skeletal system", - "Hematological neoplasm", - "Aplasia/Hypoplasia of fingers", - "radius endochondral element", - "abnormal immune system morphology", + "limb segment", + "oxygen accumulating cell", + "abnormal forelimb morphology", + "material entity", + "Abnormal erythroid lineage cell morphology", "leukocyte", - "mesoderm-derived structure", - "abnormal upper urinary tract", - "specifically dependent continuant", - "increased qualitatively biological_process", - "abnormal anatomical entity length", - "abnormal number of anatomical enitites of type cell", - "abnormal digit", - "abnormal number of anatomical enitites of type neutrophil", - "abnormality of anatomical entity physiology", - "Puberty and gonadal disorders", - "Abnormal immune system morphology", + "craniocervical region", + "abnormal long bone morphology", + "negative regulation of macromolecule metabolic process", "abnormal nitrogen compound metabolic process", - "abnormal immune system", - "abnormally decreased number of myeloid cell", - "Abnormality of blood circulation", - "excretory system", - "skeleton of limb", - "nervous system", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "protein-containing complex organization", - "abnormal granulocyte morphology", - "Decreased head circumference", - "hematopoietic cell", - "regulation of macromolecule metabolic process", - "continuant", - "aplastic manual digit 1", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal myeloid leukocyte morphology", - "abnormal manual digit morphology in the manus", - "Ectopic kidney", + "manual digit 1 digitopodial skeleton", "hemolymphoid system", - "Abnormal heart morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Renal hypoplasia/aplasia", - "abnormal manus morphology", - "cell", - "phenotype by ontology source", - "integument", - "metabolic process", - "abnormal phalanx morphology", - "myeloid cell", - "Neutropenia", - "abnormal skeletal system", + "Abnormal immune system morphology", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of anatomical entity", "disconnected anatomical group", - "abnormal number of anatomical enitites of type granulocyte", - "changed developmental process rate", - "neutrophil", - "abnormal cellular response to stress", - "independent continuant", - "abnormal hematopoietic system morphology", + "bone cell", + "Aplasia/Hypoplasia of the thumb", + "abnormal hematopoietic system", + "manual digit 1 plus metapodial segment", + "Neoplasm", + "manual digit 1 or 5", + "abnormally decreased number of platelet", + "phalanx", + "erythrocyte", + "abnormal blood cell", + "manual digit 1 phalanx", + "organ system subdivision", + "abnormal phenotype by ontology source", + "abnormal size of multicellular organism", + "bone element", + "platelet", + "vestibulo-auditory system", + "hematopoietic cell", + "skeletal element", + "Bone marrow hypocellularity", + "Anemia", + "abnormal bone marrow cell", + "Acute leukemia", + "abnormal immune system", + "abnormal anatomical entity", + "abnormally decreased number of cell", + "muscle organ", + "abnormal anatomical entity length", + "abnormal cell", + "macromolecule metabolic process", + "appendage girdle complex", + "anatomical entity", "Aplasia/hypoplasia involving the skeleton", - "Abnormal granulocyte count", - "abnormal hematopoietic cell morphology", - "abnormal limb morphology", - "brain", - "Abnormal external genitalia", - "Abnormal leukocyte count", - "Pallor", - "Renal agenesis", - "Growth abnormality", - "abnormal renal system morphology", - "abnormal brain morphology", - "aplasia or hypoplasia of telencephalon", - "abnormal anatomical entity morphology", + "musculoskeletal system", + "Abnormal cell morphology", + "phenotype", "Abnormality of the immune system", - "Abnormality of the skin", - "3-D shape anatomical entity in independent continuant", + "Thrombocytopenia", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the skeleton of manus", + "Neoplasm by anatomical site", + "decreased length of manual digit 1", + "quality", + "phenotype by ontology source", + "anucleate cell", + "manus bone", + "Abnormality of the hand", + "Hematological neoplasm", + "manual digit plus metapodial segment", + "abnormal limb long bone morphology", + "hematopoietic system", + "autopod bone", + "multicellular organism", + "mesoderm-derived structure", + "skeleton of limb", + "nucleate cell", + "Abnormal finger morphology", "anatomical system", - "Abnormality of the endocrine system", - "abnormal kidney morphology", - "immaterial anatomical entity", - "Abnormal bleeding", - "blood circulation", + "anatomical structure", + "abnormally decreased number of myeloid cell", + "Abnormality of the musculoskeletal system", + "Abnormal finger phalanx morphology", + "abnormal bone marrow morphology", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "appendage", + "regulation of cellular metabolic process", + "regulation of metabolic process", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "abnormal immune system morphology", + "manual digit 1", + "Aplasia/hypoplasia involving bones of the extremities", + "decreased length of digit", + "Short thumb", + "abnormal manual digit 1 morphology", + "digit 1 plus metapodial segment", + "digit", "endochondral element", - "Abnormality of neutrophils", - "structure with developmental contribution from neural crest", - "renal collecting system", - "Abnormality of skin pigmentation", - "abnormally decreased number of granulocyte in the independent continuant", - "simple eye", - "abnormally decreased number of anatomical entity in the independent continuant", - "axial skeleton plus cranial skeleton", + "abnormality of muscle organ physiology", + "multi-limb segment region", + "manual digit phalanx endochondral element", + "abnormal sensory perception", + "abnormal manus", + "secretory cell", + "decreased size of the anatomical entity in the independent continuant", + "abnormal anatomical entity morphology in the pectoral complex", + "segment of manus", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal skeletal system morphology", + "protein-containing material entity", + "aplasia or hypoplasia of anatomical entity", + "All", + "anatomical collection", + "paired limb/fin", + "digit plus metapodial segment", + "abnormal face", + "autopodial extension", + "subdivision of organism along appendicular axis", + "paired limb/fin skeleton", + "abnormal ear", + "abnormal autopod region morphology", + "bone of free limb or fin", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "autopodial skeleton", + "skeleton of digitopodium", "Abnormal skeletal morphology", - "limb endochondral element", - "anatomical entity", - "abnormality of multicellular organism mass", - "eukaryotic cell", - "appendage", - "U-shaped kidney", - "material anatomical entity", - "abnormal blood cell morphology", - "material entity", - "limb long bone", - "abnormally decreased number of myeloid cell in the independent continuant", - "kinesthetic behavior", - "abnormal number of anatomical enitites of type myeloid cell", - "multicellular organism", - "kidney", - "Reticulocytopenia", - "Opisthokonta", - "Abnormal myeloid leukocyte morphology", - "abnormal phenotype by ontology source", - "abnormal location of anatomical entity", - "abnormal myeloid cell morphology", - "cognition", + "decreased size of the anatomical entity in the pectoral complex", + "forelimb", + "Acute myeloid leukemia", + "Short digit", + "lateral structure", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "forelimb skeleton", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormality of anatomical entity height", + "bone of appendage girdle complex", + "aplasia or hypoplasia of manual digit 1", + "bone marrow cell", + "system", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Abnormal appendicular skeleton morphology", + "Facial palsy", + "manual digit", + "paralysed anatomical entity", + "phalanx endochondral element", + "pectoral appendage skeleton", + "abnormal manus morphology", + "Abnormality of the musculature", + "abnormal digit", + "head", + "Abnormality of limb bone", + "cranial nerve", + "abnormal phalanx morphology", + "abnormal arm", "manus", - "male organism", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal forebrain morphology", - "Abnormal cell morphology", - "abnormally decreased number of leukocyte in the independent continuant" + "abnormal limb", + "skeletal musculature of head", + "organism subdivision", + "Leukemia", + "bone of pectoral complex", + "entity", + "subdivision of skeletal system", + "endochondral bone", + "subdivision of skeleton", + "arm", + "Abnormal ear physiology", + "sensory perception of sound", + "Abnormal myeloid cell morphology", + "digit 1 or 5", + "decreased qualitatively sensory perception of sound", + "cell", + "limb", + "Abnormality of the upper limb", + "Duplication of thumb phalanx", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "pectoral complex", + "digit 1 digitopodial skeleton", + "appendicular skeletal system", + "limb skeleton subdivision", + "upper limb segment", + "appendicular skeleton", + "abnormal manual digit morphology in the independent continuant", + "Abnormal hand morphology", + "abnormal limb morphology", + "Abnormality of thumb phalanx", + "decreased length of manual digit", + "Abnormality of thrombocytes", + "abnormal size of anatomical entity", + "primary metabolic process", + "skeleton of manual digitopodium", + "abnormal head", + "skeleton of manual acropodium", + "axial musculature", + "manual digit digitopodial skeleton", + "pectoral appendage", + "autopod endochondral element", + "Duplication of phalanx of hand", + "individual digit of digitopodial skeleton", + "Duplication of hand bones", + "peripheral nervous system", + "obsolete cell", + "limb long bone", + "forelimb bone", + "Abnormal long bone morphology", + "phalanx of manus", + "manual digit 1 phalanx endochondral element", + "digitopodium bone", + "forelimb long bone" ], - "has_phenotype_count": 32, + "has_phenotype_count": 11, "highlight": null, "score": null }, { - "id": "MONDO:0014638", + "id": "MONDO:0014985", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group T", + "name": "Fanconi anemia complementation group V", "full_name": null, "deprecated": null, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.", - "xref": ["DOID:0111081", "GARD:16111", "OMIM:616435", "UMLS:C4084840"], + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.", + "xref": ["DOID:0111080", "GARD:16213", "OMIM:617243", "UMLS:C4310652"], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, "symbol": null, "synonym": [ - "FANCT", - "Fanconi Anemia, complementation group type T", - "Fanconi anaemia caused by mutation in UBE2T", - "Fanconi anaemia complementation group type T", - "Fanconi anemia caused by mutation in UBE2T", - "Fanconi anemia complementation group type T", - "Fanconi anemia, complementation group T", - "UBE2T Fanconi anaemia", - "UBE2T Fanconi anemia" + "FANCV", + "Fanconi Anemia, complementation Group 5", + "Fanconi Anemia, complementation group V", + "Fanconi Anemia, complementation group type V", + "Fanconi anaemia caused by mutation in MAD2L2", + "Fanconi anaemia complementation group type V", + "Fanconi anemia caused by mutation in MAD2L2", + "Fanconi anemia complementation group type V", + "Fanconi anemia, complementation GROUP V", + "MAD2L2 Fanconi anaemia", + "MAD2L2 Fanconi anemia" ], "uri": null, "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0004808", - "HP:0001876", + "HP:0001875", + "HP:0000252", "HP:0001873", - "HP:0009778", "HP:0005528", - "HP:0009942", - "HP:0001903", - "HP:0003221", - "HP:0004322", - "HP:0000365", - "HP:0010628" + "HP:0006254", + "HP:0003221", + "HP:0001903", + "HP:0004322" ], "has_phenotype_label": [ - "Acute myeloid leukemia", - "Pancytopenia", + "Neutropenia", + "Microcephaly", "Thrombocytopenia", - "Short thumb", "Bone marrow hypocellularity", - "Duplication of thumb phalanx", - "Anemia", + "Elevated circulating alpha-fetoprotein concentration", "Chromosomal breakage induced by crosslinking agents", - "Short stature", - "Hearing impairment", - "Facial palsy" + "Anemia", + "Short stature" ], "has_phenotype_closure": [ - "UPHENO:0078730", - "UBERON:0001444", - "UPHENO:0076702", - "HP:0010827", - "UBERON:0004461", - "UBERON:0001647", - "UBERON:0034713", - "HP:0000301", - "UPHENO:0081709", - "UPHENO:0002910", - "UPHENO:0087907", - "UBERON:0001033", - "UBERON:0000383", - "UPHENO:0080555", - "HP:0000759", - "HP:0031910", - "UPHENO:0002320", - "HP:0011805", - "UBERON:0000122", - "HP:0012638", - "HP:0012639", - "UPHENO:0076722", - "HP:0001291", - "UBERON:0013700", - "UBERON:0015789", - "UBERON:0002376", - "UPHENO:0002908", - "HP:0006824", - "HP:0000707", - "HP:0003011", - "UBERON:0001456", - "UPHENO:0004508", - "UBERON:0012354", - "HP:0011804", - "UBERON:0002470", - "UPHENO:0049587", - "UBERON:0005090", - "HP:0410008", - "UPHENO:0085302", - "UBERON:0010314", - "HP:0000364", - "UPHENO:0063722", - "UBERON:0001690", - "HP:0000234", - "HP:0000152", - "UBERON:0000020", - "GO:0050954", - "UBERON:0004456", - "UPHENO:0002764", - "GO:0003008", - "UBERON:0001032", - "GO:0007600", - "UPHENO:0050625", - "HP:0001871", + "GO:0040007", + "UPHENO:0081424", + "UPHENO:0000543", + "UPHENO:0049874", "HP:0001507", + "UPHENO:0012541", + "HP:0000002", "HP:0001510", - "HP:0001909", - "UBERON:0010712", - "UPHENO:0081423", - "HP:0001872", - "GO:0031327", - "UPHENO:0084766", - "UBERON:0011676", - "GO:0050794", - "UBERON:0002105", - "UPHENO:0002433", - "HP:0030319", - "GO:0043170", - "GO:0007605", - "GO:0046483", - "GO:0034641", - "HP:0040012", - "UPHENO:0049990", - "UPHENO:0049873", - "GO:0031049", - "UPHENO:0049748", - "UPHENO:0049700", - "GO:0010558", - "BFO:0000004", - "HP:0003221", - "UBERON:0013702", - "GO:0031052", - "UBERON:0001785", - "GO:0044237", - "GO:0071840", - "UBERON:0002495", - "UPHENO:0080377", - "UPHENO:0050845", - "HP:0011017", - "HP:0001876", - "UPHENO:0003587", - "UPHENO:0050121", - "GO:0010556", - "GO:0031326", - "GO:0006259", + "HP:0001877", + "CL:0000329", + "HP:0012130", + "UPHENO:0088162", + "CL:0000764", + "GO:0009890", + "GO:0031324", "GO:0071824", - "HP:0000598", - "GO:0060255", - "UBERON:0010543", - "GO:0065007", - "UBERON:0011249", - "GO:0031323", - "GO:0009892", - "GO:0048523", - "GO:0050789", - "GO:0006807", - "GO:0044238", - "HP:0004322", + "UPHENO:0050021", "GO:0010629", - "UPHENO:0085189", - "HP:0031704", - "HP:0011842", - "HP:0000002", - "CL:0000219", + "GO:0031049", + "GO:0060255", "GO:0009889", - "UPHENO:0004523", - "HP:0025461", + "GO:0048523", + "GO:0043933", + "UPHENO:0050116", + "HP:0003221", + "UPHENO:0049990", + "UPHENO:0050121", "GO:0005623", - "UPHENO:0082875", - "UPHENO:0088162", - "UPHENO:0088170", - "HP:0009997", - "UBERON:0015023", - "UBERON:0003607", - "UPHENO:0080352", - "UBERON:0012357", - "UPHENO:0086589", - "UBERON:0005897", - "UBERON:0001630", - "UBERON:0001436", - "UPHENO:0087369", - "UPHENO:0086173", - "GO:0031324", - "HP:0009942", - "GO:0040007", - "UBERON:0012150", - "UPHENO:0079872", - "UBERON:0007811", - "PATO:0000001", - "UPHENO:0049874", - "UPHENO:0084447", - "HP:0040070", + "UPHENO:0049748", + "GO:0010468", + "GO:0010558", + "GO:0031327", + "GO:0006325", + "GO:0050794", + "GO:0019222", "GO:0048519", - "UPHENO:0001002", - "HP:0009142", - "UBERON:0008962", - "GO:0050877", - "GO:0090304", - "UBERON:0011250", - "UBERON:5101463", - "BFO:0000002", - "UPHENO:0005433", - "UPHENO:0020041", - "UBERON:0012151", - "UBERON:0015021", - "UBERON:5102544", - "HP:0009602", - "UPHENO:0081700", - "GO:0009987", - "UPHENO:0000543", - "UPHENO:0050116", - "UPHENO:0076718", - "HP:0004275", - "UPHENO:0087501", - "UPHENO:0002844", - "HP:0001324", - "UBERON:0034923", - "UBERON:0002390", - "UPHENO:0079876", - "UBERON:0002544", - "UPHENO:0002964", - "UPHENO:0050021", - "UBERON:0003620", - "UBERON:5102389", - "UPHENO:0086700", - "UPHENO:0031839", - "UPHENO:0078606", - "UPHENO:0002896", - "HP:0010628", - "HP:0045060", - "HP:0012130", - "UBERON:0005881", - "UPHENO:0050620", - "UBERON:5002544", - "UBERON:0000475", - "UBERON:0005451", - "GO:0032501", - "HP:0040068", - "UBERON:0015061", - "GO:0008150", - "HP:0002813", - "UBERON:0000033", - "UBERON:0001460", - "HP:0011799", - "UPHENO:0084761", - "UBERON:0000153", - "UBERON:0002513", - "UBERON:0010707", - "UBERON:0000010", - "UBERON:0000026", + "GO:0006139", + "GO:1901360", + "GO:0043170", + "GO:0046483", + "UPHENO:0050845", "HP:0003220", - "UBERON:0010959", - "CL:0000457", - "UBERON:0004708", - "UBERON:0012475", - "UBERON:0002371", - "UBERON:0001474", - "UPHENO:0080114", - "UBERON:0003221", - "UPHENO:0046505", - "HP:0011927", - "UPHENO:0076772", - "UPHENO:0005116", - "UPHENO:0002240", - "PR:000050567", - "UPHENO:0087339", + "GO:0071840", + "UPHENO:0078606", + "UPHENO:0050113", + "GO:0031052", + "CHEBI:24431", + "UPHENO:0051680", + "HP:0006254", + "UBERON:0010323", + "UPHENO:0086045", + "HP:0000234", + "UPHENO:0088338", + "UPHENO:0087089", + "UPHENO:0087123", + "HP:0000252", + "GO:0031323", + "UBERON:0011138", "UPHENO:0000541", - "UPHENO:0084448", - "HP:0005918", - "UPHENO:0075195", - "GO:0071704", - "UPHENO:0088166", - "UBERON:0002398", - "UPHENO:0084763", - "UBERON:0001440", - "UPHENO:0069254", - "UBERON:0004710", - "UBERON:0008785", - "HP:0011844", - "HP:0001877", - "UPHENO:0011498", - "UBERON:0010912", - "UBERON:0002389", - "UBERON:0006717", - "UPHENO:0002948", - "UPHENO:0002708", - "UPHENO:0002905", - "UPHENO:0068971", - "HP:0045010", - "UBERON:0004381", - "UBERON:0012140", - "UBERON:5106048", - "UBERON:0001463", - "UBERON:0012139", - "HP:0009381", - "CL:0001035", - "UPHENO:0086635", - "UBERON:0012141", - "UPHENO:0080126", - "UPHENO:0075159", - "UBERON:0008229", - "UPHENO:0076692", - "UPHENO:0046624", - "UBERON:5001463", - "UBERON:0001577", - "UPHENO:0086005", - "UBERON:0010740", - "UPHENO:0002903", - "UPHENO:0002332", - "UPHENO:0076727", - "UBERON:0001442", - "UBERON:0010363", - "UPHENO:0076740", - "UBERON:0004375", - "UBERON:0011582", - "HP:0002817", - "UBERON:0034925", - "UPHENO:0046411", - "UPHENO:0004459", - "UBERON:0011779", - "GO:0006996", - "UPHENO:0086956", - "UBERON:5002389", - "UPHENO:0085144", - "UBERON:0006058", - "UBERON:0019231", - "UBERON:5006048", - "UBERON:0010708", - "UBERON:0002091", - "HP:0009601", - "HP:0001155", - "UPHENO:0075696", - "CL:0000151", - "HP:0011297", - "HP:0001881", - "RO:0002577", - "HP:0006265", - "UPHENO:0021800", - "UBERON:0003606", - "UPHENO:0087006", - "UPHENO:0080556", - "UBERON:0001016", - "HP:0005922", - "UPHENO:0076724", - "UPHENO:0046707", - "BFO:0000015", + "HP:0001874", + "GO:0010605", + "GO:0009892", "UPHENO:0080079", - "UPHENO:0085068", - "UPHENO:0012274", - "UBERON:0000062", - "HP:0006496", - "HP:0005927", - "UPHENO:0085118", - "HP:0001939", - "CL:0000763", - "UBERON:0005162", - "HP:0005561", - "UBERON:0004249", - "UBERON:0010758", - "UBERON:0004473", - "HP:0020047", - "UPHENO:0086172", - "UPHENO:0084987", - "GO:0008152", - "UBERON:0006048", - "UPHENO:0002816", - "GO:0006725", - "UBERON:0002529", - "UBERON:0004765", - "CL:0000081", + "NCBITaxon:2759", + "UPHENO:0081566", + "UPHENO:0087907", + "HP:0000152", + "UBERON:0000475", + "HP:0000240", "UBERON:0001434", - "UPHENO:0002536", - "UPHENO:0086049", - "UBERON:0015063", - "HP:0000118", - "GO:0016043", - "GO:0009890", - "UPHENO:0087355", - "UPHENO:0084928", - "UBERON:0002193", - "BFO:0000001", - "UPHENO:0086045", - "CL:0000764", - "UBERON:0007272", + "UPHENO:0076805", + "HP:0025461", + "HP:0002060", + "CL:0000988", + "UPHENO:0069254", + "UPHENO:0075220", + "UPHENO:0051936", + "HP:0010987", + "UPHENO:0081435", "HP:0000924", - "CL:0000458", - "UPHENO:0080099", - "HP:0025354", - "UPHENO:0006910", - "HP:0011875", - "HP:0000365", - "UPHENO:0001003", - "CL:0000225", - "UPHENO:0085195", - "CL:0000000", - "UPHENO:0076723", - "HP:0001873", - "UPHENO:0086633", - "GO:1901360", - "HP:0011873", - "HP:0011314", - "UPHENO:0085984", - "UBERON:0004120", - "UBERON:0000479", - "UBERON:0015024", - "HP:0009815", - "HP:0033127", - "CL:0002092", - "UBERON:0015212", - "CL:0000233", - "UPHENO:0087123", - "UBERON:0010538", + "UPHENO:0081423", "UBERON:0015203", + "UPHENO:0022529", + "UPHENO:0049587", + "UPHENO:0002844", + "UPHENO:0001002", + "BFO:0000004", + "UPHENO:0080352", + "UBERON:0002405", + "UBERON:0000179", + "UBERON:0011676", + "UBERON:0000061", + "UPHENO:0001003", + "GO:0050789", + "UBERON:0013701", + "HP:0001881", "UPHENO:0085344", - "UBERON:0011216", - "HP:0002488", - "UPHENO:0012541", - "HP:0012145", - "HP:0009115", - "HP:0002664", - "UPHENO:0076675", - "CL:0002242", - "GO:0006325", - "UBERON:0002101", - "HP:0004808", - "UPHENO:0088186", - "UBERON:0001015", - "HP:0005528", - "BFO:0000040", - "UPHENO:0081424", - "HP:0011893", - "UPHENO:0001005", - "UBERON:0001021", - "HP:0000271", - "UPHENO:0085371", - "CL:0000988", - "HP:0001167", - "UBERON:0002428", - "CL:0000232", - "UPHENO:0052178", - "UPHENO:0020584", - "HP:0009778", - "UPHENO:0015280", - "UBERON:0018254", - "UBERON:0000465", - "UBERON:0014892", - "UPHENO:0052970", - "HP:0004377", - "UBERON:0010688", - "UBERON:0000075", - "UBERON:0015025", - "UBERON:0002102", - "HP:0001903", - "UPHENO:0077426", - "HP:0032251", - "UBERON:0019221", + "UPHENO:0063722", + "HP:0001872", + "HP:0032180", + "UPHENO:0075159", + "HP:0100547", + "GO:0071704", + "CL:0000219", + "UBERON:0011137", "BFO:0000020", - "GO:0010605", - "CL:0000329", - "GO:0019222", + "HP:0011991", + "UPHENO:0076675", + "CHEBI:36962", + "UPHENO:0002948", + "CHEBI:33256", + "UBERON:0000062", + "UPHENO:0086019", + "UPHENO:0011498", + "UPHENO:0077822", + "UBERON:0011216", "UPHENO:0076703", + "UBERON:0002193", + "CL:0001035", + "UPHENO:0085354", + "PR:000018263", + "UPHENO:0076799", + "UBERON:0000481", + "UPHENO:0020584", + "UPHENO:0087518", + "OBI:0100026", + "CL:0000766", + "UPHENO:0084928", + "UPHENO:0088318", "HP:0000001", - "GO:0043933", - "CL:0000738", - "UBERON:0000061", - "UBERON:0002204", - "UBERON:0013701", - "HP:0010987", - "GO:0006139", - "UPHENO:0050113", - "UPHENO:0001001", - "UPHENO:0002880", + "HP:0011875", + "HP:0430071", + "UPHENO:0085042", + "HP:0025354", + "UPHENO:0082943", + "UPHENO:0085371", + "CL:0000457", + "HP:0012443", + "HP:0032251", + "UPHENO:0004459", + "CL:0000233", + "UPHENO:0080351", + "UPHENO:0076286", + "UPHENO:0049700", + "HP:0001911", + "UPHENO:0085405", + "UPHENO:0002764", + "GO:0006807", + "UPHENO:0006910", + "CL:0002242", + "GO:0010556", + "PR:000050567", + "UPHENO:0085076", + "BFO:0000003", + "UPHENO:0085356", + "PATO:0000001", + "UBERON:0034923", + "HP:0040012", + "UPHENO:0086005", "UBERON:0000467", - "UPHENO:0005518", - "UBERON:0000468", - "HP:0011793", - "UPHENO:0052231", - "HP:0040064", - "UBERON:0002405", - "UBERON:0001062", - "HP:0001172", - "UBERON:0004288", + "UBERON:0004765", + "UPHENO:0085118", "HP:0002715", + "GO:0090304", + "UPHENO:0015280", + "HP:0045056", + "UPHENO:0004523", + "UPHENO:0086176", + "GO:0065007", + "HP:0010974", "UPHENO:0085070", - "UPHENO:0076710", - "GO:0010468", - "UPHENO:0002830", - "BFO:0000003", - "UBERON:0010000", - "UPHENO:0080351", - "UBERON:0012358", - "UBERON:0010741", - "CL:0000255" - ], - "has_phenotype_closure_label": [ - "abnormal nerve", - "Abnormality of the peripheral nervous system", - "skeletal muscle organ, vertebrate", - "Abnormal nervous system morphology", - "abnormality of nervous system physiology", - "Abnormal peripheral nerve morphology by anatomical site", - "face", - "cranial or facial muscle", - "Abnormal nervous system physiology", - "Abnormality of facial musculature", - "paralysed cranial nerve", - "Abnormality of facial soft tissue", - "subdivision of head", - "gustatory system", - "nervous system", - "abnormal facial muscle", - "axial musculature", - "craniocervical region musculature", - "abnormal muscle organ morphology", - "Abnormal skeletal muscle morphology", - "abnormal musculature", - "neuron projection bundle", - "facial muscle", - "Abnormality of the musculature", - "facial nerve", - "cranial neuron projection bundle", - "decreased anatomical entity strength", - "Abnormal muscle physiology", - "abnormal facial nerve", - "obsolete cell", - "peripheral nervous system", - "musculature", - "abnormality of muscle organ physiology", - "multi cell part structure", - "decreased muscle organ strength", - "abnormal face", - "head", - "abnormal organelle organization", - "abnormal head morphology", - "forelimb endochondral element", - "vestibulo-auditory system", - "craniocervical region", - "biological_process", - "protein-containing material entity", - "subdivision of skeleton", - "abnormal cranial nerve morphology", - "decreased qualitatively sensory perception of sound", - "decreased qualitatively sensory perception of mechanical stimulus", - "Abnormal ear physiology", - "nervous system process", - "body proper", - "Weakness of facial musculature", - "main body axis", - "Facial palsy", - "entire sense organ system", - "abnormal metabolic process", - "changed biological_process rate", - "abnormal ear", - "muscle organ", - "abnormality of ear physiology", - "abnormality of anatomical entity physiology", - "Hearing abnormality", - "abnormal sensory perception of sound", - "Abnormality of head or neck", - "paralysed anatomical entity", - "abnormal size of multicellular organism", - "growth", - "decreased size of the multicellular organism", - "delayed growth", - "Abnormality of body height", - "decreased height of the multicellular organism", - "abnormal DNA metabolic process", - "forelimb", - "abnormal chromatin organization", - "Abnormality of metabolism/homeostasis", - "Leukemia", - "Chromosomal breakage induced by crosslinking agents", - "multicellular organismal process", - "abnormal bone marrow cell morphology", - "manual digit phalanx endochondral element", - "regulation of macromolecule biosynthetic process", - "Abnormality of chromosome stability", - "Abnormal thumb morphology", - "regulation of biological process", - "decreased sensory perception of sound", - "organic substance metabolic process", - "decreased height of the anatomical entity", - "Abnormal leukocyte morphology", - "abnormal programmed DNA elimination by chromosome breakage", - "acropodium region", - "abnormal cellular metabolic process", - "regulation of cellular process", - "negative regulation of biological process", - "organic cyclic compound metabolic process", - "obsolete heterocycle metabolic process", - "obsolete cellular aromatic compound metabolic process", - "cellular component organization", - "continuant", - "regulation of macromolecule metabolic process", - "nucleobase-containing compound metabolic process", - "negative regulation of metabolic process", - "protein-containing complex organization", - "regulation of biosynthetic process", - "abnormal cellular process", - "regulation of gene expression", - "negative regulation of macromolecule biosynthetic process", - "negative regulation of cellular biosynthetic process", - "manual digit 1 phalanx", - "sensory system", - "chromatin organization", - "appendicular skeletal system", - "abnormal cellular component organization", - "biological regulation", - "organ system subdivision", - "process", - "regulation of cellular biosynthetic process", - "Abnormality of the ear", - "negative regulation of biosynthetic process", - "abnormal phalanx of manus morphology", - "sensory perception of sound", - "negative regulation of macromolecule metabolic process", - "negative regulation of cellular metabolic process", - "DNA metabolic process", - "Abnormal cranial nerve physiology", - "organ", - "protein-DNA complex organization", - "Anemia", - "nucleic acid metabolic process", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "Duplication of thumb phalanx", - "individual digit of digitopodial skeleton", - "digit 1 digitopodial skeleton", - "abnormality of anatomical entity height", - "skeleton of manual acropodium", - "acropodial skeleton", - "decreased length of anatomical entity in independent continuant", - "phalanx of manus", - "autopod bone", - "autopod endochondral element", - "skeleton of pectoral complex", - "skeleton of digitopodium", - "structure with developmental contribution from neural crest", - "Abnormal long bone morphology", - "programmed DNA elimination", - "abnormal skeletal system morphology", - "manual digitopodium bone", - "Duplication of hand bones", - "macromolecule metabolic process", - "bone of pectoral complex", - "abnormal bone of pectoral complex morphology", - "nerve", - "limb long bone", - "limb skeleton subdivision", - "phalanx endochondral element", - "decreased length of anatomical entity", - "sensory perception", - "manual digit 1 digitopodial skeleton", - "long bone", - "myeloid cell", - "abnormal phalanx morphology", - "subdivision of organism along appendicular axis", - "abnormal anatomical entity morphology in the skeleton of manus", - "autopodial skeleton", - "Abnormality of thumb phalanx", - "Abnormal finger phalanx morphology", - "paired limb/fin skeleton", - "motile cell", - "abnormal anatomical entity", - "paired limb/fin", - "serotonin secreting cell", - "decreased biological_process", - "Abnormal appendicular skeleton morphology", + "CHEBI:36963", + "HP:0000118", + "UBERON:0000033", + "UBERON:0000178", + "HP:0011842", + "UPHENO:0075696", + "HP:0001871", + "HP:0001875", + "UPHENO:0077426", + "GO:0034641", + "HP:0011893", + "PR:000064867", + "UPHENO:0085984", + "CHEBI:51143", + "CL:0000255", + "UPHENO:0085189", + "UPHENO:0051612", + "CL:0000738", + "CL:0000763", + "CL:0000458", + "UPHENO:0088170", + "GO:0044238", + "UPHENO:0001001", + "UPHENO:0086589", + "UPHENO:0076791", + "CHEBI:37622", + "HP:0004322", + "UBERON:0003129", + "UPHENO:0086016", + "CL:0000000", + "UPHENO:0088166", + "BFO:0000001", + "UBERON:0004120", + "CL:0000094", + "UPHENO:0046362", + "HP:0007364", + "UBERON:0000468", + "HP:0032309", + "UBERON:0004121", + "UPHENO:0088335", + "GO:0006996", + "HP:0001939", + "NCBITaxon:33208", + "UPHENO:0076692", + "UPHENO:0002536", + "UBERON:0010314", + "UBERON:0001062", + "UPHENO:0088321", + "CL:0000775", + "UBERON:0000075", + "UBERON:0010912", + "CL:0000225", + "UBERON:0010000", + "UBERON:0002390", + "CHEBI:15841", + "GO:0031326", + "UBERON:0002090", + "CHEBI:23367", + "UBERON:0000073", + "HP:0000929", + "UBERON:0000955", + "UPHENO:0001005", + "HP:0040195", + "GO:0016043", + "HP:0002011", + "HP:0012145", + "BFO:0000002", + "HP:0012639", + "UPHENO:0051804", + "UBERON:0002204", + "GO:0044237", + "HP:0002977", + "NCBITaxon:131567", + "NCBITaxon:33154", + "GO:0006725", + "UBERON:0001893", + "UPHENO:0080200", + "UBERON:0001890", + "HP:0033127", + "UPHENO:0076702", + "HP:0001903", + "UBERON:0005944", + "UPHENO:0088176", + "UBERON:0034925", + "BFO:0000040", + "HP:0033405", + "CHEBI:33304", + "UBERON:0013702", + "HP:0001873", + "UBERON:0007811", + "UPHENO:0075195", + "HP:0009121", + "NCBITaxon:6072", + "UPHENO:0002964", + "UPHENO:0086172", + "HP:0000707", + "UPHENO:0086173", + "UPHENO:0086049", + "HP:0011017", + "PR:000000001", + "UPHENO:0084987", + "UPHENO:0048707", + "CL:0000232", + "HP:0011873", + "CL:0000151", + "UPHENO:0085302", + "UBERON:0004288", + "UPHENO:0085144", + "HP:0020047", + "CL:0002092", + "CHEBI:33579", + "UPHENO:0051668", + "UPHENO:0087355", + "UPHENO:0049873", + "UBERON:0000153", + "HP:0005561", + "UPHENO:0087339", + "UPHENO:0035025", + "UBERON:0000479", + "HP:0005528", + "UBERON:0002371", + "GO:0006259", + "UBERON:0001474", + "UPHENO:0085195", + "UBERON:0001016", + "CHEBI:36357", + "UPHENO:0077821", + "UBERON:0000463", + "NCBITaxon:1", + "UPHENO:0046378", + "CHEBI:33302", + "UBERON:0000465", + "CHEBI:33582", + "CHEBI:16670", + "HP:0004364", + "HP:0010876", + "UPHENO:0085330", + "GO:0008152", + "UBERON:0002616", + "UPHENO:0048751", + "UPHENO:0046284", + "CHEBI:50860", + "CHEBI:16541", + "UPHENO:0068971", + "CHEBI:33695", + "UBERON:0001017", + "UPHENO:0081547", + "CHEBI:25806", + "CL:0000081", + "CHEBI:35352", + "UPHENO:0085068", + "CHEBI:32988", + "GO:0009987", + "CHEBI:33285", + "UPHENO:0051763", + "UPHENO:0020888", + "UPHENO:0077813", + "GO:0008150", + "CHEBI:33675", + "UPHENO:0076289", + "UPHENO:0077826", + "PR:000003809", + "BFO:0000015", + "CHEBI:33694", + "CHEBI:33839", + "UBERON:0006314", + "CHEBI:36080", + "CHEBI:50047", + "UPHENO:0051801" + ], + "has_phenotype_closure_label": [ "delayed biological_process", - "abnormal anatomical entity morphology in the manus", - "Abnormality of limbs", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "programmed DNA elimination by chromosome breakage", - "abnormal bone marrow morphology", - "organism subdivision", - "cranial nerve", - "pectoral appendage", - "abnormal nervous system", - "lateral structure", - "limb", - "abnormal anatomical entity morphology in the pectoral complex", - "decreased size of the anatomical entity in the pectoral complex", - "cellular process", - "manual digit 1", - "multi-limb segment region", - "abnormal craniocervical region", - "decreased qualitatively biological_process", - "immune system", - "manual digit plus metapodial segment", - "digit 1 plus metapodial segment", - "Abnormality of the seventh cranial nerve", - "platelet", - "obsolete nitrogen compound metabolic process", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "Abnormality of the nervous system", - "Bone marrow hypocellularity", - "Short finger", - "abnormal long bone morphology", - "skeletal musculature of head", - "abnormal digit morphology", - "Phenotypic abnormality", - "cellular component organization or biogenesis", - "Abnormality of the face", - "non-connected functional system", - "abnormal leukocyte morphology", - "abnormal cell morphology", - "limb bone", - "nucleate cell", - "entity", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Abnormal cellular phenotype", - "pectoral appendage skeleton", - "oxygen accumulating cell", - "musculature of face", - "bone of free limb or fin", - "decreased size of the anatomical entity in the independent continuant", - "abnormal arm", - "Abnormal digit morphology", - "aplasia or hypoplasia of manual digit", - "autopodial extension", - "anterior region of body", - "Abnormal peripheral nervous system morphology", - "quality", - "aplasia or hypoplasia of anatomical entity", - "erythrocyte", - "abnormal limb bone morphology", - "Abnormal platelet count", - "abnormal forelimb morphology", - "abnormal limb bone", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "Abnormality of the upper limb", - "abnormally decreased number of hematopoietic cell", - "paired limb/fin segment", - "Abnormal cell morphology", - "manus", - "decreased length of manual digit 1", - "Growth abnormality", - "skeleton of limb", - "segment of autopod", - "abnormal appendicular skeleton morphology", - "musculoskeletal system", - "decreased size of the anatomical entity", - "autopod region", - "Abnormal erythroid lineage cell morphology", - "manual digit 1 or 5", - "abnormal hematopoietic cell morphology", - "abnormal limb morphology", - "Abnormal platelet morphology", - "abnormally decreased number of platelet", - "system", - "subdivision of organism along main body axis", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the hand", - "Aplasia/hypoplasia of the extremities", - "digit 1", - "abnormal head", - "Short thumb", - "bone cell", - "abnormal autopod region morphology", - "abnormal limb", - "abnormal sensory perception", - "abnormality of cranial nerve physiology", - "Abnormal hand morphology", - "abnormal manual digit morphology in the independent continuant", - "musculature of body", - "sensory perception of mechanical stimulus", + "Short stature", + "decreased height of the anatomical entity", "Growth delay", - "forelimb skeleton", - "endochondral bone", - "blood cell", - "erythroid lineage cell", - "abnormal size of anatomical entity", - "abnormal biological_process", - "Abnormal cellular physiology", - "abnormal immune system", - "abnormal nitrogen compound metabolic process", - "appendage girdle complex", - "limb segment", - "skeleton", - "manus bone", - "sense organ", - "subdivision of skeletal system", - "abnormal peripheral nervous system morphology", - "bone marrow", - "secretory cell", - "arm", - "organelle organization", - "hematopoietic cell", - "Abnormal cranial nerve morphology", - "skeletal musculature", - "decreased length of digit", - "manual digit", - "muscle structure", - "Abnormality of the head", - "Abnormal upper limb bone morphology", - "skeletal element", - "All", - "appendicular skeleton", - "bone of appendage girdle complex", - "Abnormal cellular immune system morphology", - "manual digit 1 plus metapodial segment", - "digit plus metapodial segment", - "abnormal platelet morphology", - "decreased length of manual digit", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormality of multiple cell lineages in the bone marrow", - "anatomical collection", - "occurrent", - "skeleton of manual digitopodium", - "digit", - "Abnormality of the skeletal system", - "abnormal anatomical entity morphology in the independent continuant", - "segment of manus", + "decreased size of the multicellular organism", + "Abnormality of body height", + "abnormality of anatomical entity height", + "delayed growth", + "decreased height of the multicellular organism", + "abnormality of multicellular organism height", + "abnormal erythroid lineage cell morphology", + "Abnormal erythrocyte morphology", + "abnormal erythrocyte morphology", + "abnormal primary metabolic process", + "negative regulation of biosynthetic process", + "protein-DNA complex organization", + "regulation of cellular biosynthetic process", + "biological regulation", + "abnormal organelle organization", + "programmed DNA elimination", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "negative regulation of metabolic process", "negative regulation of cellular process", - "hematopoietic system", - "material entity", - "abnormal blood cell morphology", - "abnormal nervous system morphology", - "Cranial nerve paralysis", - "abnormal cell", - "bone element", - "manual digit bone", - "ear", - "Neoplasm by anatomical site", - "Short stature", - "Abnormality of limb bone", - "Aplasia/hypoplasia involving bones of the extremities", + "nucleic acid metabolic process", + "protein-containing complex organization", + "regulation of biological process", + "primary metabolic process", + "obsolete nitrogen compound metabolic process", + "cellular component organization or biogenesis", + "abnormal cellular component organization", + "abnormal cellular metabolic process", + "obsolete cell", + "abnormal metabolic process", + "cellular process", + "abnormal cellular process", + "regulation of cellular metabolic process", "regulation of metabolic process", - "abnormal anatomical entity length", - "abnormal number of anatomical enitites of type cell", + "regulation of cellular process", + "negative regulation of biological process", + "nucleobase-containing compound metabolic process", + "organic cyclic compound metabolic process", + "macromolecule metabolic process", + "obsolete cellular aromatic compound metabolic process", + "organelle organization", + "obsolete cellular nitrogen compound metabolic process", + "cellular component organization", + "Growth abnormality", + "programmed DNA elimination by chromosome breakage", + "regulation of gene expression", + "abnormal telencephalon morphology", + "anatomical entity", + "cellular organisms", + "polyatomic entity", + "Abnormality of head or neck", + "craniocervical region", + "haemolymphatic fluid", + "body proper", + "aplasia or hypoplasia of telencephalon", + "regional part of brain", "abnormal craniocervical region morphology", - "Thrombocytopenia", - "pectoral complex", - "Abnormality of the musculoskeletal system", - "Short digit", + "regional part of nervous system", + "forebrain", + "abnormal anatomical entity morphology in the brain", + "Abnormal skull morphology", + "Abnormal leukocyte morphology", + "Morphological central nervous system abnormality", + "cell", + "neutrophil", + "anterior region of body", + "multi-tissue structure", + "abnormal biological_process", + "abnormal role bodily fluid level", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormal skeletal morphology", + "erythroid lineage cell", + "obsolete heterocycle metabolic process", + "Abnormal axial skeleton morphology", + "Chromosome breakage", + "abnormal chromatin organization", + "mesoderm-derived structure", + "macromolecule", + "anatomical system", + "main body axis", + "immune system", + "myeloid cell", + "organonitrogen compound", + "root", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal nervous system", + "Abnormal neutrophil count", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "abnormal bone marrow morphology", + "quality", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal myeloid leukocyte morphology", + "myeloid leukocyte", + "biological_process", + "phenotype by ontology source", + "anucleate cell", + "granulocyte", "abnormal number of anatomical enitites of type myeloid cell", - "manual digit digitopodial skeleton", - "abnormally decreased number of cell", - "biogenic amine secreting cell", - "abnormal immune system morphology", - "Hematological neoplasm", - "Aplasia/Hypoplasia of fingers", - "abnormally decreased number of anatomical entity", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "musculoskeletal system", + "Abnormal cell morphology", "phenotype", - "Abnormal leukocyte count", - "metabolic process", - "nerve of head region", - "Neoplasm", - "abnormal bone marrow cell", - "system process", - "manual digit 1 phalanx endochondral element", - "skeletal system", - "abnormal limb long bone morphology", + "Abnormal cellular phenotype", "abnormal number of anatomical enitites of type leukocyte", - "abnormal primary metabolic process", "abnormal number of anatomical enitites of type anatomical entity", - "obsolete cellular nitrogen compound metabolic process", - "abnormal erythroid lineage cell morphology", - "Duplication of phalanx of hand", - "tissue", - "abnormal manual digit morphology in the manus", + "nervous system", + "anatomical collection", + "All", + "abnormal skull morphology", + "increased level of protein", + "abnormally decreased number of leukocyte in the independent continuant", + "aplasia or hypoplasia of anatomical entity", + "Abnormal leukocyte count", + "decreased size of the anatomical entity in the independent continuant", + "secretory cell", + "central nervous system", + "abnormal blood alpha-fetoprotein level", + "hemolymphoid system", + "material anatomical entity", + "abnormal platelet morphology", + "Abnormal platelet count", + "growth", + "abnormally decreased number of anatomical entity in the independent continuant", + "serotonin secreting cell", + "nucleate cell", + "postcranial axial skeletal system", "abnormal phenotype by ontology source", - "bone marrow cell", - "abnormal manus", + "hematopoietic cell", + "skeletal system", + "motile cell", + "abnormal growth", + "abnormal leukocyte morphology", + "independent continuant", + "abnormal immune system morphology", + "nitrogen molecular entity", + "chromatin organization", + "negative regulation of macromolecule biosynthetic process", + "abnormal number of anatomical enitites of type granulocyte", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "amino acid chain", + "tissue", + "abnormal axial skeleton plus cranial skeleton morphology", + "organic molecular entity", + "primary amide", + "eukaryotic cell", + "skull", + "abnormal head", + "Abnormal myeloid leukocyte morphology", + "Abnormality of brain morphology", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "information biomacromolecule", + "multicellular organism", + "hematopoietic system", + "abnormally decreased number of neutrophil", + "Abnormal granulocyte count", + "Abnormality of the skeletal system", + "Abnormal granulocyte morphology", + "anatomical structure", + "regulation of macromolecule biosynthetic process", + "Abnormal circulating metabolite concentration", + "abnormally decreased number of granulocyte", + "structure with developmental contribution from neural crest", + "abnormal neutrophil", + "ectoderm-derived structure", + "abnormally decreased number of hematopoietic cell", + "pnictogen molecular entity", + "Abnormal nervous system morphology", + "abnormally decreased number of cell", + "oxygen molecular entity", + "abnormal cell", + "abnormal programmed DNA elimination by chromosome breakage", + "organochalcogen compound", + "oxygen accumulating cell", + "protein", + "organic amino compound", + "Abnormal erythroid lineage cell morphology", "leukocyte", - "abnormality of multicellular organism height", - "anatomical system", - "limb endochondral element", - "anatomical entity", - "digitopodium region", + "Abnormality of chromosome stability", + "abnormal central nervous system morphology", + "material entity", + "abnormal alpha-fetoprotein level", + "Aplasia/Hypoplasia involving the central nervous system", + "Microcephaly", + "abnormal DNA metabolic process", + "blood cell", + "chemical entity", + "abnormal myeloid cell morphology", + "Abnormal myeloid cell morphology", + "abnormal forebrain morphology", + "negative regulation of gene expression", + "Phenotypic abnormality", + "abnormal blood cell morphology", + "Neutropenia", + "abnormally decreased number of cell in the independent continuant", + "multicellular anatomical structure", + "Abnormality of neutrophils", + "Abnormality of skull size", + "subdivision of organism along main body axis", + "abnormal skeletal system morphology", + "protein-containing material entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "Abnormal immune system morphology", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of anatomical entity", + "Elevated circulating alpha-fetoprotein concentration", + "abnormally decreased number of granulocyte in the independent continuant", + "non-connected functional system", + "abnormal size of multicellular organism", + "bone element", + "abnormally decreased number of leukocyte", + "abnormal hematopoietic cell morphology", + "abnormal granulocyte morphology", + "Chromosomal breakage induced by crosslinking agents", + "Abnormal circulating organic compound concentration", + "protein-containing molecular entity", + "skeleton", + "bone marrow", + "abnormal hematopoietic system", + "disconnected anatomical group", + "abnormal immune system", + "abnormal anatomical entity", + "abnormal independent continuant nitrogen molecular entity level", + "Abnormality of the head", + "Abnormal forebrain morphology", + "Abnormality of the immune system", + "Thrombocytopenia", + "abnormal anatomical entity morphology", + "Abnormal cerebral morphology", "specifically dependent continuant", - "abnormally decreased number of myeloid cell", + "erythrocyte", "abnormal blood cell", - "abnormal growth", - "eukaryotic cell", + "organ system subdivision", + "abnormal size of skull", + "abnormal postcranial axial skeleton morphology", + "abnormal cell morphology", + "abnormal nervous system morphology", + "organism subdivision", + "decreased size of the anatomical entity", + "blood", + "subdivision of skeleton", + "Opisthokonta", + "telencephalon", + "axial skeletal system", + "abnormally decreased number of myeloid cell in the independent continuant", + "cranial skeletal system", + "postcranial axial skeleton", + "abnormal skeletal system", + "Metazoa", + "axial skeleton plus cranial skeleton", + "Abnormality of the nervous system", + "Eumetazoa", + "Eukaryota", + "abnormal craniocervical region", + "organism", + "Decreased head circumference", "Abnormality of thrombocytes", - "forelimb bone", - "Hearing impairment", - "endochondral element", - "Chromosome breakage", - "digit 1 or 5", - "Abnormality of limb bone morphology", - "forelimb long bone", - "abnormal manus morphology", - "cell", - "phenotype by ontology source", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormal myeloid cell morphology", - "craniocervical muscle", - "negative regulation of gene expression", - "digitopodium bone", + "abnormal size of anatomical entity", + "abnormal platelet", + "cellular metabolic process", + "biogenic amine secreting cell", + "abnormal blood chemical entity level", "abnormal number of anatomical enitites of type platelet", - "Acute leukemia", - "abnormal skeletal system", - "disconnected anatomical group", - "appendage", - "material anatomical entity", - "Pancytopenia", - "aplasia or hypoplasia of skeleton", - "cranial muscle", - "independent continuant", - "manual digitopodium region", - "abnormal peripheral nervous system", - "Abnormal immune system morphology", - "hemolymphoid system", - "Muscle weakness", - "anucleate cell", - "abnormal digit", + "abnormally decreased number of platelet", + "bone marrow cell", + "abnormal blood protein polypeptide chain level", + "bone cell", "Abnormality of bone marrow cell morphology", - "Abnormal skeletal morphology", - "primary metabolic process", - "abnormal anatomical entity morphology", - "Abnormality of the immune system", - "Abnormality of blood and blood-forming tissues", - "anatomical structure", - "Aplasia/hypoplasia involving the skeleton", + "polypeptide", "abnormal hematopoietic system morphology", - "Acute myeloid leukemia", - "Duplication of bones involving the upper extremities", - "abnormal hematopoietic system", - "mesoderm-derived structure", - "cellular metabolic process", - "upper limb segment", - "phalanx", - "multicellular organism", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal platelet", - "regulation of cellular metabolic process", - "abnormal myeloid cell morphology" + "Bone marrow hypocellularity", + "skeletal element", + "negative regulation of cellular metabolic process", + "abnormal bone marrow cell morphology", + "Anemia", + "abnormal bone marrow cell", + "Abnormal circulating alpha-fetoprotein concentration", + "Abnormality of multiple cell lineages in the bone marrow", + "carbon group molecular entity", + "abnormal independent continuant chemical entity level", + "Abnormal circulating nitrogen compound concentration", + "peptide", + "continuant", + "protein polypeptide chain", + "abnormal chemical entity level", + "abnormal number of anatomical enitites of type hematopoietic cell", + "process", + "abnormal role independent continuant level", + "abnormal independent continuant protein level", + "chalcogen molecular entity", + "entity", + "subdivision of skeletal system", + "Abnormal circulating protein concentration", + "Abnormality of the musculoskeletal system", + "abnormally decreased number of myeloid cell", + "abnormal protein level", + "metabolic process", + "bodily fluid", + "organism substance", + "organ", + "occurrent", + "increased level of alpha-fetoprotein", + "abnormal role blood level", + "Abnormality of metabolism/homeostasis", + "organic substance metabolic process", + "Abnormal cellular physiology", + "increased level of chemical entity", + "head", + "amide", + "platelet", + "organooxygen compound", + "abnormal independent continuant alpha-fetoprotein level", + "p-block molecular entity", + "biomacromolecule", + "Abnormal platelet morphology", + "heteroorganic entity", + "alpha-fetoprotein", + "abnormal head morphology", + "abnormal independent continuant protein polypeptide chain level", + "Abnormality of blood and blood-forming tissues", + "molecular entity", + "DNA metabolic process", + "carboxamide", + "abnormal blood nitrogen molecular entity level", + "Abnormal circulating organic amino compound concentration", + "abnormal multicellular organism chemical entity level", + "main group molecular entity", + "negative regulation of cellular biosynthetic process" ], - "has_phenotype_count": 11, + "has_phenotype_count": 8, "highlight": null, "score": null }, { - "id": "MONDO:0011584", + "id": "MONDO:0011325", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group D1", + "name": "Fanconi anemia complementation group F", "full_name": null, "deprecated": null, - "description": "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.", - "xref": [ - "DOID:0111089", - "GARD:17449", - "MESH:C563980", - "NCIT:C125705", - "OMIM:605724", - "Orphanet:319462", - "SCTID:766707003", - "UMLS:C1838457" - ], + "description": "Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM.", + "xref": ["DOID:0111088", "GARD:15355", "NCIT:C125707", "OMIM:603467"], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, "symbol": null, "synonym": [ - "FAD1", - "FANCD1", - "Fad1", - "Fanconi anemia complementation group D1", - "Fanconi anemia, complementation group D1", - "inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations" + "FANCF", + "Fanconi Anemia, complementation group type F", + "Fanconi anaemia complementation group type F", + "Fanconi anemia complementation group F", + "Fanconi anemia complementation group type F", + "Fanconi anemia, complementation group F" ], "uri": null, "iri": null, "namespace": "MONDO", "has_phenotype": [ + "HP:0008551", + "HP:0002984", + "HP:0009777", + "HP:0000750", + "HP:0000960", + "HP:0001882", "HP:0000252", - "HP:0004808", - "HP:0009778", - "HP:0005528", - "HP:0001511", "HP:0000957", + "HP:0002247", + "HP:0000028", + "HP:0001631", + "HP:0009778", + "HP:0001873", + "HP:0000125", + "HP:0000405", + "HP:0000824", + "HP:0000568", + "HP:0002090", "HP:0003221", + "HP:0000076", + "HP:0001643", + "HP:0005528", + "HP:0030260", + "HP:0000953", + "HP:0001328", + "HP:0001903", "HP:0001508", + "HP:0001195", + "HP:0000089", + "HP:0001233", "HP:0004322", - "HP:0006727", - "HP:0002023" + "HP:0001511", + "HP:0001561", + "HP:0011419" ], "has_phenotype_label": [ + "Microtia", + "Hypoplasia of the radius", + "Absent thumb", + "Delayed speech and language development", + "Sacral dimple", + "Leukopenia", "Microcephaly", - "Acute myeloid leukemia", - "Short thumb", - "Bone marrow hypocellularity", - "Intrauterine growth retardation", "Cafe-au-lait spot", + "Duodenal atresia", + "Cryptorchidism", + "Atrial septal defect", + "Short thumb", + "Thrombocytopenia", + "Pelvic kidney", + "Conductive hearing impairment", + "Decreased response to growth hormone stimulation test", + "Microphthalmia", + "Pneumonia", "Chromosomal breakage induced by crosslinking agents", - "Failure to thrive", - "Short stature", - "T-cell acute lymphoblastic leukemias", - "Anal atresia" - ], - "has_phenotype_closure": [ - "UBERON:0001245", - "UBERON:0000161", - "UBERON:0001555", - "UBERON:0001007", - "UPHENO:0002833", - "HP:0002023", - "UPHENO:0086644", - "UPHENO:0002839", - "HP:0004322", - "HP:0004378", - "UPHENO:0081423", - "UPHENO:0080352", + "Vesicoureteral reflux", + "Patent ductus arteriosus", + "Bone marrow hypocellularity", + "Microphallus", + "Hyperpigmentation of the skin", + "Specific learning disability", + "Anemia", + "Failure to thrive", + "Single umbilical artery", + "Renal hypoplasia", + "2-3 finger syndactyly", + "Short stature", + "Intrauterine growth retardation", + "Polyhydramnios", + "Placental abruption" + ], + "has_phenotype_closure": [ + "UBERON:0003100", + "UPHENO:0005170", + "UBERON:0000173", + "HP:0001561", + "GO:0009790", + "UPHENO:0080393", + "UPHENO:0081436", + "GO:0048856", + 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"GO:0009890", - "GO:0010605", - "GO:0006259", - "GO:0071824", - "GO:0060255", - "GO:0009892", - "GO:0048523", - "GO:0050789", - "GO:0006807", - "UPHENO:0063565", - "GO:0044238", - "GO:0010629", - "HP:0000002", - "GO:0009889", - "GO:0005623", + "UBERON:0019221", + "UBERON:0019232", + "UPHENO:0002240", + "UPHENO:0053588", + "UBERON:0004765", + "UBERON:0000467", + "UPHENO:0060026", + "UPHENO:0002378", + "UPHENO:0087548", + "GO:1901360", + "UBERON:0004151", + "UBERON:0000061", + "UPHENO:0008523", + "UPHENO:0087518", + "OBI:0100026", + "UPHENO:0006910", + "UPHENO:0086908", + "UBERON:0005451", + "HP:0040068", + "UPHENO:0002708", + "UBERON:0003513", + "UBERON:0012141", + "HP:0012759", + "UBERON:0002097", + "UBERON:0003135", + "HP:0000001", + "HP:0011297", + "UPHENO:0087186", + "UPHENO:0081435", + "UPHENO:0076724", + "UPHENO:0081451", + "HP:0000077", "UBERON:0002199", - "UBERON:0002416", - "UPHENO:0054970", - "UPHENO:0049748", - "HP:0001034", - "HP:0011121", - "UPHENO:0074572", - "HP:0000957", 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"GO:0140352", + "UPHENO:0081790", + "HP:0000377", + "UPHENO:0076803", + "UBERON:0000465", + "UBERON:0001130", + "UPHENO:0075933", + "UBERON:0000153", + "UPHENO:0086589", + "UPHENO:0076791", + "GO:0043933", + "UPHENO:0002896", + "UPHENO:0009382", + "UPHENO:0080300", + "UBERON:0000073", + "UBERON:0010703", "UBERON:0000955", + "GO:0034641", + "HP:0000929", + "UBERON:0007272", + "UBERON:8600018", + "UPHENO:0087802", + "UPHENO:0012274", + "HP:0001872", + "UPHENO:0084761", + "UBERON:5006048", + "UBERON:0003133", + "UPHENO:0086956", + "GO:0071840", + "HP:0002813", + "HP:0002818", + "HP:0001167", + "UPHENO:0080111", + "HP:0040064", + "UBERON:0002428", + "HP:0001903", + "UPHENO:0003116", + "UPHENO:0004459", + "UPHENO:0054957", + "UPHENO:0088170", + "UBERON:0010740", + "UPHENO:0081792", + "HP:0012130", + "UPHENO:0033603", + "CL:0000300", + "UPHENO:0005597", + "GO:0007610", + "HP:0005922", + "UPHENO:0015303", + "UPHENO:0052178", + "HP:0008551", + "UPHENO:0086771", + "UPHENO:0026183", + "UPHENO:0084771", + "UPHENO:0081313", + "UPHENO:0069110", + "UPHENO:0002263", + "UPHENO:0019890", + "GO:0006725", + "UPHENO:0087501", + "HP:0005927", + "UBERON:0003101", + "UBERON:0004120", + "UBERON:0001440", + "HP:0000027", + "UPHENO:0069294", + "HP:0011121", + "HP:0034057", + "UPHENO:0078606", "HP:0006265", - "UPHENO:0087006", - "GO:0048856", - "HP:0005922", - "UPHENO:0086633", - "HP:0002664", - "HP:0025354", - "UPHENO:0086172", - "UPHENO:0063599", - "UPHENO:0052178", - "CL:0002242", - "UPHENO:0080351", - "CL:0000219", - "CL:0000255", - "UPHENO:0074589", - "UBERON:0000468", - "NCBITaxon:2759", - "UPHENO:0084761", - "HP:0011793", + "GO:0042886", + "HP:0040072", + "UBERON:0010912", + "UPHENO:0085302", + "UPHENO:0084928", + "UPHENO:0026028", + "UPHENO:0063565", + "HP:0005773", + "HP:0011873", + "UBERON:0004375", + "HP:0009115", + "UPHENO:0004523", + "UBERON:0010758", + "UBERON:0001555", + "UPHENO:0087846", + "GO:0008150", + "UPHENO:0020888", + "UPHENO:0002433", + "HP:0011747", + 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"UBERON:0001017", - "BFO:0000004", - "UBERON:0000465", - "GO:0010468", - "UPHENO:0002830", - "BFO:0000003", - "UBERON:0002616", - "HP:0002488", - "NCBITaxon:131567", - "NCBITaxon:1", - "HP:0006727", - "GO:0007275", "HP:0007364", - "HP:0100547", - "UBERON:0002102", - "UPHENO:0088186", - "HP:0004808", - "HP:0000234", - "GO:0032501", - "HP:0040068", - "UPHENO:0087907", - "UPHENO:0004459", - "NCBITaxon:6072", - "UPHENO:0012274", - "UBERON:0010314", - "UBERON:0000062", - "HP:0034915", - "UBERON:0007811", - "HP:0012145", - "UBERON:0013702", - "UBERON:0002204", - "UBERON:0007272", "BFO:0000001", - "HP:0009121", - "UPHENO:0075195", - "UPHENO:0002764", - "HP:0040195", - "UBERON:0010758", - "HP:0002977", + "UPHENO:0002635", + "UPHENO:0002751", + "UBERON:0002495", + "UBERON:0004535", + "HP:0005107", + "HP:0010767", + "UPHENO:0003020", + "UBERON:0005944", + "UBERON:0000991", + "UBERON:0002398", + "UBERON:0009569", + "UBERON:0002416", + "CL:0000764", + "UPHENO:0087089", + "UPHENO:0083951", + "UPHENO:0087374", + "CL:0000039", + "UBERON:0002102", + "UPHENO:0003811", + "CL:0000225", + "HP:0000925", + "GO:0006950", + "UPHENO:0015324", + "HP:0001643", + "UBERON:0004571", + "UBERON:0000065", + "HP:0000830", + "UBERON:0012140", + "UBERON:0005473", + "UBERON:0004111", + "UPHENO:0080377", + "UBERON:0011137", + "UPHENO:0033572", + "HP:0009815", + "HP:0002246", + "UBERON:0006077", + "UPHENO:0078159", + "UPHENO:0049584", + "HP:0025033", + "GO:0048232", + "UBERON:0003828", + "CL:0000988", + "HP:0012372", + "HP:0002060", + "GO:0060255", + "UBERON:0006075", + "UBERON:0001981", + "UPHENO:0082875", "HP:0011355", - "UBERON:0005451", - "UPHENO:0074584", - "HP:0001172", - "UPHENO:0080114", - "UBERON:0012475", - "UBERON:0000481", - "HP:0025461", - "UPHENO:0002536", - "HP:0001909", - "UBERON:0001434", - "HP:0011844", - "UBERON:0010912", - "GO:0090304", - "UPHENO:0076799", - "UBERON:0002470", - "HP:0007400", - "HP:0012443", - "HP:0012639", + "GO:0050794", + "UPHENO:0085875", + "HP:0010781", + "UPHENO:0076695", + "GO:0044237", + "UPHENO:0088166", + "UPHENO:0002813", + "GO:0007275", "HP:0000924", - "HP:0000001", - "GO:0008150", - "HP:0002813", - "UPHENO:0076791", - "HP:0000240", - "UPHENO:0001002", - "UBERON:0002544", - "UPHENO:0010763", - "OBI:0100026", - "UPHENO:0020888", - "UPHENO:0049874", - "UPHENO:0000543", - "UPHENO:0012541", - "UPHENO:0080221", - "UPHENO:0081435", - "UBERON:0002513", - "UBERON:0000153", - "GO:0006139", - "UPHENO:0050113", - "UPHENO:0001001", - "UBERON:0000475", - "GO:0016043", - "UPHENO:0050108", - "HP:0004377", - "UPHENO:0087518", + "UBERON:0004121", + "UBERON:0004247", + "UPHENO:0080099", + "CL:0000219", + "UBERON:0005173", + "UPHENO:0086857", + "UBERON:0003463", + "HP:0040012", + "UBERON:0010707", + "UPHENO:0022529", + "HP:0000032", + "UBERON:0001556", + "HP:0001574", + "UBERON:0005174", + "UBERON:0011216", + "HP:0011024", + "UBERON:0004175", + "UPHENO:0087334", + "UBERON:0005177", + "HP:0009121", + "HP:0011100", + "UPHENO:0049990", + "UPHENO:0020659", + "RO:0002577", + "HP:0000951", + "UBERON:0001637", + "UPHENO:0077426", + "UPHENO:0085984", "HP:0002715", - "UBERON:0004288", - "GO:0031324", - "HP:0002060", - "HP:0006721", - "UPHENO:0060026", - "HP:0000118", - "UPHENO:0074228", - "UBERON:0002090", - "UPHENO:0002905", + "HP:0030260", + "GO:0051234", + "UPHENO:0085371", + "CL:0000000", + "UPHENO:0050101", + "UPHENO:0088338", + "UPHENO:0078743", + "UPHENO:0076703", + "UPHENO:0085330", + "HP:0010460", + "UPHENO:0035025", + "UPHENO:0079876", + "UBERON:0001007", + "UPHENO:0078327", + "UPHENO:0087123", + "UBERON:0018674", + "UPHENO:0088319", + "UPHENO:0075872", + "GO:0010605", + "UPHENO:0035147", + "UBERON:0000474", + "HP:0025354", + "CL:0000255", + "UPHENO:0005986", + "CL:0002242", + "UPHENO:0087643", + "UPHENO:0002948", + "UBERON:0002100", + "UPHENO:0076675", + "UPHENO:0063722", + "UPHENO:0087376", + "HP:0001881", + "UPHENO:0078081", + "GO:0015833", + "UPHENO:0076735", + "UBERON:0006314", + "HP:0005561", + "HP:0011893", + "HP:0010987", + "UPHENO:0002832", + "GO:0032502", + "HP:0032251", "UPHENO:0085195", - "UBERON:0011137", - "HP:0011842", - "GO:0043933", - "CL:0000738", - "UBERON:0000061", - "UBERON:0004375", - "HP:0025033", - "HP:0000707", - "UBERON:0002097", - "HP:0000152", + "UPHENO:0063629", + "UPHENO:0086635", + "HP:0000812", + "HP:0000240", + "UPHENO:0081628", + "UPHENO:0086855", + "UBERON:0001691", + "UPHENO:0075220", + "BFO:0000020", + "UBERON:0012354", + "UPHENO:0081566", + "NCBITaxon:1", + "HP:0000252", + "UBERON:0000055", + "UPHENO:0083689", + "UBERON:0000489", + "UBERON:0010323", + "UPHENO:0069391", + "UBERON:0001017", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0001032", + "HP:0012443", + "UBERON:0002616", + "HP:0000050", + "UPHENO:0054970", + "HP:0012758", + "HP:0002011", + "UPHENO:0046707", + "UPHENO:0074575", + "UBERON:0000170", + "UPHENO:0076805", + "UPHENO:0080200", "UBERON:0001890", - "UBERON:0001893", - "UBERON:0011216", - "UPHENO:0079876", - "UPHENO:0002844", - "UPHENO:0076803", - "UPHENO:0082682", + "UPHENO:0002476", "NCBITaxon:33154", - "UPHENO:0002880", - "UBERON:0000467", - "UBERON:0010000", - "UPHENO:0020584", - "UBERON:0001460", - "UBERON:0000033", - "UPHENO:0080200", - "UPHENO:0076724", - "UPHENO:0046707", - "UPHENO:0003811", + "UBERON:0001893", + "UBERON:0000475", "UPHENO:0076702", - "UBERON:0001062", - "GO:0031052", - "HP:0000929", - "HP:0002011", - "UPHENO:0081566", - "PATO:0000001", - "UBERON:0000075", - "GO:0019222", - "UPHENO:0076703", - "GO:0065007", - "GO:0031323", - "UBERON:0011138", - "GO:0050794", - "UBERON:0011676", - "UBERON:0002428", - "UPHENO:0076805", - "GO:0031327", - "UPHENO:0059829", - "UBERON:0001016", - "UBERON:0010712", - "UPHENO:0001005", + "UPHENO:0076776", + "NCBITaxon:6072", + "UBERON:0000007", + "UPHENO:0080221", + "HP:0001034", + "UPHENO:0085410", + "HP:0001631", + "UPHENO:0080662", + "HP:0009777", + "UBERON:0004921", + "UPHENO:0082682", + "HP:0033127", + "HP:0007400", + "UBERON:0000481", + "HP:0000957", + "HP:0000002", + "UPHENO:0076740", + "HP:0000953", + "UPHENO:0076684", + "UPHENO:0074589", + "UBERON:0003460", + "HP:0012733", + "GO:0010817", + "GO:0043473", + "UBERON:0004537", + "CL:0000081", + "UBERON:0000064", + "UBERON:0013522", + "HP:0002664", + "UPHENO:0063569", + "HP:0002589", + "UPHENO:0076783", + "HP:0011793", + "UPHENO:0003058", + "UBERON:0004088", + "UBERON:0000025", + "UBERON:0002090", + "HP:0002247", + "UBERON:0000072", + "UPHENO:0080362", "GO:0006325", - "UBERON:0002101", - "HP:0005528", - "BFO:0000040", - "UBERON:0000026", - "UPHENO:0001003", - "UBERON:0005944" + "UPHENO:0063639", + "UPHENO:0053580", + "UPHENO:0081594", + "HP:0000035", + "HP:0004322", + "UPHENO:0087973", + "HP:0009380", + "UPHENO:0074228", + "UBERON:0000990", + "UBERON:0002114", + "UPHENO:0082761", + "CL:0000738", + "UBERON:0000160", + "UPHENO:0087427", + "UPHENO:0002808", + "HP:0025031", + "HP:0010461", + "UPHENO:0086621", + "HP:0001671", + "HP:0003026", + "CL:0000019", + "UPHENO:0081423", + "UBERON:0005409", + "UPHENO:0052231", + "HP:0000028", + "UPHENO:0069523", + "UPHENO:0002725", + "HP:0012718", + "UPHENO:0088337", + "HP:0002244", + "UBERON:0001558", + "UPHENO:0086201", + "UPHENO:0076289", + "UBERON:0010712", + "HP:0000080", + "GO:0048519", + "UBERON:0006058", + "HP:0008772", + "UPHENO:0085874", + "HP:0001871", + "UBERON:0000079", + "UPHENO:0078267", + "HP:0001000", + "UPHENO:0080382", + "GO:0048609", + "HP:0011419", + "GO:0051179", + "GO:0003006", + "UBERON:0003622", + "UBERON:0002471", + "UPHENO:0081755", + "CL:0000586", + "HP:0001627", + "UPHENO:0049970", + "UPHENO:0003055", + "UBERON:0005156", + "GO:0000003", + "HP:0000811", + "UPHENO:0081547", + "HP:0012243", + "UPHENO:0085194", + "HP:0001172", + "HP:0002973", + "UBERON:0011676", + "HP:0000025", + "UPHENO:0049985", + "HP:0000960", + "UBERON:0000463", + "UPHENO:0078729", + "UBERON:0015228", + "UPHENO:0002830", + "UBERON:0004288", + "CL:0000015", + "UPHENO:0002764", + "UPHENO:0002597", + "GO:0007276", + "UBERON:0004176", + "HP:0008669", + "UBERON:0002405", + "UBERON:0003606", + "UPHENO:0021561", + "UPHENO:0086198", + "UPHENO:0077889", + "UPHENO:0079826", + "UPHENO:0002595", + "UBERON:0004122", + "UPHENO:0049940", + "CL:0000413", + "UPHENO:0002332", + "HP:0012874", + "UPHENO:0076718", + "UPHENO:0005651", + "UPHENO:0052778", + "UPHENO:0078452", + "UPHENO:0053298", + "UBERON:0003690", + "HP:0000078", + "HP:0100767", + "UBERON:0001968", + "UBERON:0000473", + "UPHENO:0086005", + "UBERON:0004053", + "UPHENO:0002598", + "UPHENO:0049367", + "HP:0001626" ], "has_phenotype_closure_label": [ - "digestive system", - "abnormal digestive system morphology", - "digestive tract", - "abnormal closing of the anatomical entity", - "anus", - "Abnormal anus morphology", - "T-cell acute lymphoblastic leukemias", - "Acute lymphoblastic leukemia", + "female organism", + "abnormal female reproductive system", + "Intrauterine growth retardation", + "multicellular organism development", + "delayed biological_process", + "Short stature", "abnormal size of multicellular organism", - "decreased size of the multicellular organism", - "abnormality of anatomical entity height", "decreased height of the multicellular organism", - "Failure to thrive", + "abnormality of multicellular organism height", + "abnormally fused anatomical entity and anatomical entity", + "abnormally fused digit and digit", + "Abnormal 2nd finger morphology", + "digit 2", + "abnormally fused digit and anatomical entity", + "digit 2 plus metapodial segment", + "abnormally fused manual digit 2 and manual digit 3", + "abnormally fused anatomical entity and digit", + "Syndactyly", + "manual digit 2", + "abnormal manual digit 2 morphology", + "Renal hypoplasia", + "decreased size of the kidney", + "decreased embryo development", + "abnormal umbilical blood vessel morphology", + "Fetal ultrasound soft marker", + "entire extraembryonic component", + "Abnormality of the umbilical cord", + "Single umbilical artery", + "developing anatomical structure", + "abnormal late embryo", + "abnormal growth", + "Decreased multicellular organism mass", + "abnormality of multicellular organism mass", "abnormality of anatomical entity mass", - "abnormal anus morphology", - "Abnormality of body weight", - "Decreased anatomical entity mass", - "decreased anatomical entity mass", + "erythroid lineage cell", + "erythrocyte", + "abnormal erythrocyte morphology", + "oxygen accumulating cell", + "abnormal penis morphology", + "Hypoplasia of penis", + "External genital hypoplasia", + "Abnormal penis morphology", + "decreased size of the penis", + "anatomical structure development", + "Hypoplastic male external genitalia", + "tissue", + "Bone marrow hypocellularity", + "abnormal hematopoietic system morphology", + "Abnormality of bone marrow cell morphology", + "bone cell", + "conceptus", + "Abnormal blood vessel morphology", + "blood vasculature", + "abnormal great vessel of heart morphology", + "Abnormal morphology of the great vessels", + "heart vasculature", + "thoracic segment blood vessel", + "blood vessel", + "outflow tract", + "Congenital malformation of the great arteries", + "trunk blood vessel", + "abnormal artery morphology in the independent continuant", + "coronary vessel", + "abnormal incomplete closing of the ductus arteriosus", + "vascular system", + "abnormal systemic artery morphology", + "systemic artery", + "Abnormality of the lower urinary tract", + "Functional abnormality of the bladder", + "decreased size of the external male genitalia", + "Abnormal ureter physiology", + "abnormal embryo development", + "Microphallus", + "renal pelvis/ureter", + "bladder organ", + "Abnormality of the amniotic fluid", + "urinary bladder", + "abnormal size of kidney", + "Renal hypoplasia/aplasia", + "abnormal lower urinary tract", + "ureter", + "sac", + "Abnormality of the ureter", + "abnormal penis", + "abnormality of ureter physiology", + "abnormal primary metabolic process", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "regulation of biosynthetic process", + "regulation of cellular metabolic process", + "protein-containing complex organization", + "cellular metabolic process", + "abnormal cellular component organization", + "Chromosome breakage", + "negative regulation of gene expression", "abnormal metabolic process", - "abnormal chromatin organization", - "Abnormality of metabolism/homeostasis", + "Abnormality of chromosome stability", + "Abnormal cellular physiology", "Chromosomal breakage induced by crosslinking agents", - "regulation of biological process", - "organic substance metabolic process", + "metabolic process", + "abnormal DNA metabolic process", "decreased height of the anatomical entity", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal cellular metabolic process", "regulation of cellular process", - "Abnormality of digestive system morphology", + "Failure to thrive", "negative regulation of biological process", "organic cyclic compound metabolic process", - "macromolecule metabolic process", + "Placental abruption", "obsolete heterocycle metabolic process", "obsolete cellular aromatic compound metabolic process", + "intromittent organ", + "obsolete cellular nitrogen compound metabolic process", "cellular component organization", - "regulation of macromolecule metabolic process", - "orifice", - "regulation of cellular metabolic process", - "nucleobase-containing compound metabolic process", - "negative regulation of metabolic process", - "regulation of gene expression", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", + "abnormal vascular system morphology", + "negative regulation of macromolecule biosynthetic process", "negative regulation of cellular biosynthetic process", "chromatin organization", - "programmed DNA elimination", + "abnormal chromatin organization", + "Pneumonia", + "increased inflammatory response in independent continuant", + "Abnormality of immune system physiology", + "abnormal blood vessel morphology", + "lung", + "decreased growth", + "increased qualitatively inflammatory response", + "respiratory airway", + "Abnormal respiratory system physiology", + "abnormal lung morphology", + "abnormal response to stress", + "Abnormality of prenatal development or birth", + "increased inflammatory response", + "proximo-distal subdivision of respiratory tract", + "abnormal respiratory system", + "Increased inflammatory response", + "Abnormality of the respiratory system", + "abnormality of respiratory system physiology", + "abnormal bone marrow morphology", + "lower respiratory tract", + "response to stress", "abnormal organelle organization", - "regulation of cellular biosynthetic process", - "negative regulation of biosynthetic process", - "negative regulation of macromolecule metabolic process", - "DNA metabolic process", - "integument", - "integumental system", - "pigmentation", - "Abnormality of the integument", - "abnormal pigmentation", - "increased pigmentation in independent continuant", - "increased biological_process in independent continuant", - "Hyperpigmentation of the skin", - "increased qualitatively biological_process in independent continuant", - "negative regulation of macromolecule biosynthetic process", - "Abnormality of the skin", - "increased biological_process", - "abnormal integument", - "increased biological_process in skin of body", - "increased pigmentation", - "Hypermelanotic macule", - "abnormal pigmentation in independent continuant", - "abnormal biological_process in independent continuant", - "Abnormality of skin pigmentation", - "regulation of metabolic process", - "increased qualitatively biological_process", - "abnormal skin of body morphology", - "decreased multicellular organism mass", - "abnormal skin of body", - "Intrauterine growth retardation", - "developmental process", - "growth", - "Abnormality of chromosome stability", - "Abnormality of skin morphology", - "multicellular organismal process", + "abnormal respiratory system morphology", + "abnormal size of eyeball of camera-type eye", + "abnormal face morphology", + "Abnormal eye morphology", + "abnormal orbital region", + "Abnormality of the face", + "simple eye", + "Abnormality of the eye", + "abnormal face", + "camera-type eye", + "orbital region", + "Abnormality of the orbital region", + "abnormal eyeball of camera-type eye", + "abnormal camera-type eye morphology", + "decreased size of the eyeball of camera-type eye", + "visual system", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormality of the vasculature", + "abnormal growth hormone secretion", + "abnormal biological_process in nervous system", + "abnormal multicellular organism chemical entity level", + "peptide secretion", + "external male genitalia hypoplasia", + "peptide transport", + "chemical entity", + "Abnormal endocrine physiology", + "secretion", + "increased qualitatively response to stimulus", + "signal release", + "regulation of biological process", + "cell communication", + "vasculature of organ", + "Abnormal circulating hormone concentration", + "abnormal secretion in independent continuant", + "Abnormal growth hormone level", + "abnormal inflammatory response", + "neuroendocrine gland", + "lower urinary tract", + "Hypopituitarism", + "decreased secretion in independent continuant", + "regulation of biological quality", + "Abnormal pituitary gland morphology", + "glandular system", + "abnormal independent continuant chemical entity level", + "abnormal pituitary gland morphology", + "gland", + "female reproductive system", + "gland of diencephalon", + "pituitary gland", + "adenohypophysis", + "abnormal blood chemical entity level", + "Abnormality of the diencephalon", + "abnormal role independent continuant level", + "abnormal diencephalon morphology", + "localization", + "cellular process", + "abnormal endocrine gland morphology", + "abnormal endocrine system", + "Abnormality of the endocrine system", + "abnormal diencephalon", + "abnormal urinary bladder", + "regulation of hormone levels", + "transport", + "Decreased response to growth hormone stimulation test", + "decreased biological_process in brain", + "abnormal secretion by cell", + "abnormal hypothalamus-pituitary axis", + "neuroendocrine system", + "peptide hormone secretion", + "Anterior hypopituitarism", + "abnormal hormone blood level", + "abnormal localization", + "Abnormality of metabolism/homeostasis", + "abnormal chemical entity level", + "abnormal transport", + "abnormal middle ear", + "decreased qualitatively sensory perception of mechanical stimulus", + "decreased sensory perception of sound", + "abnormality of middle ear physiology", + "nucleic acid metabolic process", + "abnormal sensory perception of sound", + "Hearing abnormality", + "obsolete nitrogen compound metabolic process", + "Abnormal ear physiology", + "abnormality of urinary bladder physiology", + "Abnormality of the middle ear", + "decreased vibrational conductance of sound to the inner ear", + "multi organ part structure", + "abnormal nitrogen compound metabolic process", + "nervous system process", + "sensory perception of sound", + "system process", + "vibrational conductance of sound to the inner ear", + "Pelvic kidney", + "excretory tube", + "abnormal kidney morphology", + "Ectopic kidney", + "abnormal renal system", + "abdomen element", + "Abnormality of the kidney", + "Abnormal localization of kidney", + "Abnormality of the upper urinary tract", + "renal system", + "excretory system", + "organic substance transport", + "Abnormal platelet count", + "Abnormality of globe size", + "abnormally decreased number of platelet", + "abnormal placenta", + "Abnormal cell morphology", + "abnormal hematopoietic cell morphology", + "abnormally decreased number of myeloid cell", + "great vessel of heart", + "abnormal myeloid cell morphology", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "Abnormal myeloid cell morphology", + "embryo", + "abnormal blood cell", + "abnormal cellular process", + "secretory cell", + "decreased length of manual digit", + "Short digit", + "Short finger", + "Short thumb", + "Abnormality of cardiovascular system morphology", + "vasculature of trunk", + "heart plus pericardium", + "interatrial septum", + "abnormal biological_process in central nervous system", + "primary circulatory organ", + "thoracic cavity element", + "eye", + "Functional abnormality of the middle ear", + "compound organ", + "cardiovascular system", + "abnormal cardiac atrium morphology", + "Abnormality of speech or vocalization", + "skeleton of pectoral complex", + "axial skeleton plus cranial skeleton", + "Growth delay", + "kidney", + "abnormal biological_process", + "aplasia or hypoplasia of external ear", + "abnormality of anatomical entity physiology", + "abnormally fused manual digit and manual digit", + "anatomical entity atresia", + "Abnormality of mental function", + "abnormal cardiovascular system morphology", + "abnormality of nervous system physiology", + "response to stimulus", + "sperm", + "Delayed speech and language development", + "Abnormality of limbs", + "Atypical behavior", + "Abnormal atrial septum morphology", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", "biological_process", - "anatomical structure development", - "decreased qualitatively developmental process", - "changed biological_process rate", - "decreased developmental process", - "abnormal embryo development", - "abnormal bone marrow cell", - "abnormal bone marrow cell morphology", - "Abnormality of bone marrow cell morphology", + "secretion by cell", + "abnormal nervous system", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "digit 1 or 5", + "abnormal interatrial septum morphology", + "abnormal digit", + "thoracic segment of trunk", + "abnormal cardiac atrium morphology in the independent continuant", + "abnormal manus morphology", + "abnormal blood cell morphology", + "pectoral appendage skeleton", "changed embryo development rate", - "tissue", - "abnormal cell morphology", - "subdivision of organism along appendicular axis", - "forelimb", - "embryo development", + "abnormal number of anatomical entities of type anatomical entity in blood", + "abdomen", + "manual digit 1 plus metapodial segment", + "trunk bone", + "umbilical cord", "autopodial skeleton", - "paired limb/fin", - "decreased biological_process", - "Abnormal appendicular skeleton morphology", - "abnormal anus", - "delayed biological_process", - "abnormal anatomical entity morphology in the manus", - "abnormal hematopoietic system morphology", - "Aplasia/hypoplasia involving the skeleton", - "pectoral appendage", - "abnormal anatomical entity morphology in the pectoral complex", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "haemolymphatic fluid", + "digit plus metapodial segment", "abnormal digit morphology", - "abnormal digestive system", - "bone marrow cell", "abnormal manus", - "decreased size of the anatomical entity in the pectoral complex", - "abnormal development of anatomical entity", - "digitopodium region", + "digit", + "Hyperpigmentation of the skin", + "decreased biological_process in independent continuant", + "absent anatomical entity", + "abnormal coronary vessel morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", "segment of manus", - "cellular process", + "abnormal skeletal system morphology", + "Abnormal digit morphology", + "abnormal ureter", + "multicellular organismal process", + "Aplasia/hypoplasia involving forearm bones", + "abnormal platelet", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal immune system morphology", + "nitrogen compound transport", + "aplastic anatomical entity", + "decreased length of manual digit 1", + "anterior region of body", + "Absent thumb", + "abnormal ear", + "increased qualitatively inflammatory response in independent continuant", + "abnormal autopod region morphology", + "abnormal bone marrow cell morphology", + "bone of free limb or fin", + "Sacrococcygeal pilonidal abnormality", + "decreased size of the external ear", + "Language impairment", + "agenesis of anatomical entity", + "abnormal role blood level", + "Conductive hearing impairment", + "abnormal anatomical entity morphology in the manus", + "acropodium region", + "skeleton of manus", + "abnormal platelet morphology", + "digit 1", + "Vesicoureteral reflux", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", + "abnormal renal system morphology", + "alimentary part of gastrointestinal system", + "abnormal artery morphology", + "Abnormal forearm morphology", + "abnormal anatomical entity", + "Aplasia/Hypoplasia of the radius", + "endochondral bone", + "Abnormal cardiac septum morphology", + "subdivision of skeleton", + "nervous system", + "forelimb zeugopod bone", + "Abnormality of brain morphology", + "Decreased body weight", + "regulation of metabolic process", "manual digit 1", - "Localized skin lesion", - "multi-limb segment region", - "endochondral element", + "autopodial extension", + "pair of lungs", + "zeugopod", + "skeletal element", + "subdivision of head", + "appendage girdle complex", "digit 1 plus metapodial segment", - "anatomical conduit", - "obsolete nitrogen compound metabolic process", + "abnormal skeletal system", + "decreased size of the radius bone", + "Abnormal cellular phenotype", + "abnormal male reproductive organ morphology", + "occurrent", + "organ", + "appendicular skeleton", + "upper limb segment", + "anucleate cell", + "cardiac septum", + "pectoral complex", + "Abnormality of thrombocytes", + "Upper limb undergrowth", + "abnormal forelimb zeugopod bone", + "limb", + "Finger syndactyly", + "cell", + "Anemia", + "Abnormality of the hand", + "radius bone", + "arm", + "subdivision of skeletal system", + "entity", + "Abnormal vascular morphology", + "abnormal arm", + "head", + "Forearm undergrowth", + "Abnormal appendicular skeleton morphology", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "behavior", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "organ system subdivision", "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "limb bone", - "bone of free limb or fin", - "decreased size of the anatomical entity in the independent continuant", - "Abnormal digit morphology", - "aplasia or hypoplasia of manual digit", - "decreased length of manual digit", - "autopodial extension", - "Abnormal finger morphology", - "Abnormality of the upper limb", - "decreased qualitatively biological_process", + "system", + "appendicular skeletal system", + "anatomical system", + "arterial system", + "abnormal sensory perception", + "aplasia or hypoplasia of ear", + "decreased biological_process in multicellular organism", + "quality", + "Abnormality of the female genitalia", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "changed biological_process rate in independent continuant", + "Respiratory tract infection", + "absent digit", + "inflammatory response", + "phenotype", + "skeletal system", + "Abnormal endocrine morphology", + "motile cell", + "abnormal cellular metabolic process", + "musculoskeletal system", + "sense organ", + "abnormal limb bone", + "Abnormal nervous system morphology", + "platelet", + "absent sperm in the independent continuant", + "pelvic region element", + "absent anatomical entity in the multicellular organism", + "regulation of macromolecule biosynthetic process", + "Thrombocytopenia", + "multicellular organism", + "hematopoietic system", + "endoderm-derived structure", + "trunk region element", + "Aplasia/Hypoplasia of the external ear", + "embryo development", + "diencephalon", + "abnormal radius bone morphology", + "Hypoplasia of the radius", + "paired limb/fin", + "Aplasia/hypoplasia involving the skeleton", + "abnormal umbilical cord", + "structure with developmental contribution from neural crest", + "negative regulation of biosynthetic process", + "material entity", + "long bone", + "ectoderm-derived structure", + "multi-limb segment region", + "abnormal endocrine system morphology", + "sensory system", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "gonad", + "external ear hypoplasia", + "vessel", + "lateral structure", + "Abnormality of multiple cell lineages in the bone marrow", + "abnormal programmed DNA elimination by chromosome breakage", + "increased biological_process in lung", + "specifically dependent continuant", + "Abnormal cerebral morphology", + "abnormal erythroid lineage cell morphology", + "Abnormal morphology of the radius", + "abnormal head morphology", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "abnormal ductus arteriosus morphology", "manual digit plus metapodial segment", - "immune system", + "abnormal shape of external ear", + "abnormal limb bone morphology", + "abnormally fused manual digit and anatomical entity", + "Abnormality of head or neck", + "abnormal kidney", + "abnormal reproductive system", + "craniocervical region", + "biogenic amine secreting cell", + "Abnormality of the skeletal system", + "Abnormal forearm bone morphology", + "blood", + "abnormal pigmentation in independent continuant", + "multicellular organismal reproductive process", + "abnormal head", + "systemic arterial system", + "entire sense organ system", + "continuant", + "hormone secretion", + "endocrine system", + "forelimb skeleton", + "decreased qualitatively reproductive process", + "genitourinary system", + "Microtia", + "phenotype by ontology source", "Microcephaly", - "abnormal craniocervical region", - "limb skeleton subdivision", - "Bone marrow hypocellularity", - "Short finger", + "Abnormality of the musculoskeletal system", + "bone marrow", + "Abnormal cardiac atrium morphology", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Abnormal ear morphology", + "aplasia or hypoplasia of skeleton", + "abnormality of endocrine system physiology", + "non-connected functional system", + "embryonic cardiovascular system", + "organism subdivision", "Abnormality of the nervous system", - "appendicular skeletal system", - "forebrain", - "paired limb/fin segment", - "Abnormal cell morphology", - "Abnormal forebrain morphology", - "Aplasia/Hypoplasia of the cerebrum", + "abnormality of internal male genitalia physiology", + "decreased qualitatively biological_process in independent continuant", + "Neoplasm", + "Abnormal intestine morphology", + "protein-DNA complex organization", + "vestibulo-auditory system", + "hematopoietic cell", + "behavior process", + "abnormal upper urinary tract", + "Limb undergrowth", + "decreased secretion in pituitary gland", + "Aplasia/Hypoplasia of the thumb", + "Abnormal communication", + "abnormality of ear physiology", + "absent anatomical entity in the forelimb", + "multicellular anatomical structure", + "All", + "anatomical collection", + "increased qualitatively biological_process", "manus", - "decreased length of manual digit 1", - "Growth abnormality", - "nervous system", - "skeleton of limb", + "negative regulation of cellular process", + "abnormal limb", + "abnormally fused manual digit 2 and anatomical entity", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormality of digestive system morphology", + "abnormality of anatomical entity height", + "subdivision of organism along main body axis", + "small intestine", + "main body axis", + "arterial blood vessel", + "decreased spermatogenesis", + "decreased size of the anatomical entity in the independent continuant", + "anatomical conduit", + "abnormal limb morphology", + "forelimb zeugopod skeleton", + "bone element", + "Abnormality of the ear", + "abnormally decreased number of leukocyte", + "abnormal ear morphology", + "umbilical blood vessel", + "abnormal heart morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "thoracic segment organ", + "Neurodevelopmental abnormality", + "regulation of gene expression", + "respiratory system", + "pectoral appendage", + "subdivision of organism along appendicular axis", + "establishment of localization", + "cell-cell signaling", + "Abnormal male reproductive system physiology", + "kidney hypoplasia", + "abnormal craniocervical region morphology", + "abnormal reproductive system morphology", + "decreased qualitatively growth", + "Abnormal inflammatory response", + "abnormally decreased number of hematopoietic cell", + "abnormal phenotype by ontology source", + "abnormal development of anatomical entity", "Abnormal thumb morphology", + "subdivision of trunk", + "body proper", + "anatomical entity hypoplasia in independent continuant", + "shape anatomical entity", + "material anatomical entity", + "skeleton of limb", + "Abnormality of skin pigmentation", + "Patent ductus arteriosus", + "Abnormal pinna morphology", + "decreased qualitatively biological_process in central nervous system", + "abnormal bone of pectoral complex morphology", + "bone of pectoral complex", + "decreased length of anatomical entity", + "limb skeleton subdivision", + "skull", + "absent anatomical entity in the limb", + "Abnormal long bone morphology", + "absent sperm in the semen", + "increased qualitatively biological_process in independent continuant", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "Microphthalmia", + "abnormal external ear morphology", + "postcranial axial skeleton", + "decreased qualitatively developmental process", + "forelimb zeugopod bone hypoplasia", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "forelimb zeugopod", + "abnormal testis morphology", + "abnormal size of anatomical entity", + "Abnormal renal morphology", + "abnormal external genitalia", + "respiration organ", + "Sacral dimple", "segment of autopod", - "abnormal appendicular skeleton morphology", - "anus atresia", + "Abnormal fetal morphology", + "abnormal intestine morphology", + "independent continuant", + "abnormally fused anatomical entity and manual digit", + "abnormal leukocyte morphology", + "decreased length of anatomical entity in independent continuant", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "Abnormality of the hypothalamus-pituitary axis", + "abnormal number of anatomical enitites of type anatomical entity", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "limb bone", + "forelimb bone", + "anatomical entity hypoplasia", + "appendage", + "root", + "internal genitalia", + "abnormal behavior", + "radius endochondral element", + "Aplasia/Hypoplasia of the ear", + "Azoospermia", + "mesoderm-derived structure", + "skeleton", + "male gamete generation", + "abnormal neuroendocrine gland morphology", + "endochondral element", + "decreased biological_process", + "radius bone hypoplasia", + "aplasia or hypoplasia of anatomical entity", + "Polyhydramnios", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormal behavior process", "Aplasia/hypoplasia involving bones of the hand", - "manual digit 1 or 5", - "system", - "Abnormality of the hand", - "bone cell", - "abnormal head", - "abnormal autopod region morphology", - "abnormal limb", - "Abnormal hand morphology", - "anatomical entity atresia", - "abnormal manual digit morphology in the independent continuant", - "Growth delay", - "forelimb skeleton", + "abnormal gamete generation", + "leukocyte", + "abnormally decreased number of anatomical entity in the blood", + "ear", + "absent anatomical entity in the independent continuant", + "abnormally localised testis", + "paired limb/fin skeleton", + "Short forearm", + "subdivision of digestive tract", + "penis hypoplasia", + "limb endochondral element", + "abnormal amniotic fluid", + "zeugopodial skeleton", + "limb long bone", + "eyeball of camera-type eye", + "decreased length of forelimb zeugopod bone", + "abnormality of immune system physiology", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "bone of appendage girdle complex", + "serotonin secreting cell", "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormality of multiple cell lineages in the bone marrow", - "skeleton of pectoral complex", - "skeleton", - "abnormal manual digit 1 morphology", - "tube", - "decreased length of anatomical entity", - "endochondral bone", - "decreased length of anatomical entity in independent continuant", - "phenotype by ontology source", - "abnormal manus morphology", - "arm", - "lateral structure", - "abnormal primary metabolic process", - "Aplasia/Hypoplasia of the thumb", - "digit plus metapodial segment", - "Neoplasm by anatomical site", - "Abnormality of limb bone", + "pigmentation", + "Abnormality of limb bone morphology", + "Abnormality of the vertebral column", + "abnormal bone marrow cell", + "abnormal shape of continuant", + "trunk", + "Macule", + "reproductive system", + "sacral region", + "Abnormal testis morphology", + "abnormal integument", + "abnormal role bodily fluid level", + "dorsum", + "testis", + "Skin dimple", + "abnormal fused sacrum morphology", + "2-3 finger syndactyly", + "biological regulation", + "abdominal segment of trunk", + "bone of dorsum", + "abdominal segment element", + "abnormal external male genitalia morphology", + "abnormal vertebral column morphology", + "ductus arteriosus", + "abnormal opening of the anatomical entity", + "dorsal region element", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "spermatogenesis", + "macromolecule metabolic process", + "pelvic region of trunk", + "Neurodevelopmental delay", + "abnormal skin of body", + "Abnormality of the integument", + "aplastic manual digit 1", + "Abnormal sacrum morphology", + "face", + "aplasia or hypoplasia of manual digit", + "cardiac chamber", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "absent anatomical entity in the semen", + "manual digit 2, 3 or 4", + "Fetal anomaly", + "Abnormality of skin morphology", + "integumental system", + "abnormal gland morphology", + "middle ear", + "integument", + "abnormal craniocervical region", + "sacral region of vertebral column", + "organism", + "irregular bone", + "fused sacrum", + "increased biological_process in independent continuant", + "abnormal skin of body morphology", + "bony pelvis", + "Growth abnormality", + "abnormal adenohypophysis", "axial skeletal system", - "Aplasia/hypoplasia involving bones of the extremities", - "autopod region", - "musculoskeletal system", - "decreased size of the anatomical entity", - "protein-containing material entity", - "bone marrow", - "bone of appendage girdle complex", - "manual digit", + "reproductive gland", + "abnormal skull morphology", + "Short long bone", + "reproductive organ", + "decreased developmental process", + "absent manual digit", + "subdivision of vertebral column", + "Abnormality of the gastrointestinal tract", + "vertebral column", + "abnormally fused anatomical entity and manual digit 3", + "telencephalon", + "bone element hypoplasia in independent continuant", + "germ line cell", + "Abnormal axial skeleton morphology", + "abnormal vertebral column", + "Leukopenia", + "Abnormality of body weight", "aplasia or hypoplasia of telencephalon", - "Short digit", - "Short thumb", - "nucleic acid metabolic process", - "Decreased head circumference", "abnormal hematopoietic system", - "leukocyte", - "Abnormal cellular phenotype", - "pectoral appendage skeleton", + "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", + "gamete generation", + "Abnormal nervous system physiology", + "Abnormality of the immune system", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "Functional abnormality of male internal genitalia", + "abnormal developmental process involved in reproduction", + "heart blood vessel", + "abnormal limb long bone morphology", + "abnormal small intestine morphology", + "eukaryotic cell", + "hemolymphoid system", + "increased inflammatory response in lung", "nucleate cell", - "organelle organization", - "Cafe-au-lait spot", - "decreased length of digit", - "hematopoietic cell", - "Chromosome breakage", - "digit 1 or 5", - "Neoplasm", - "Aplasia/Hypoplasia of fingers", - "abnormal immune system morphology", - "Abnormality of body height", - "abnormal postcranial axial skeleton morphology", - "manual digit 1 plus metapodial segment", - "Abnormal cellular immune system morphology", - "Abnormality of the anus", - "Acute leukemia", - "Macule", - "changed developmental process rate", - "manual digitopodium region", + "abnormal number of anatomical enitites of type cell", + "sensory perception of mechanical stimulus", + "Abnormal upper limb bone morphology", + "skin of body", + "abnormally decreased number of anatomical entity", "Abnormal immune system morphology", - "cellular component organization or biogenesis", + "external genitalia", + "abnormal manual digit 1 morphology", + "abnormally decreased number of leukocyte in the independent continuant", "abnormal immune system", - "Leukemia", - "acropodium region", - "abnormal leukocyte morphology", - "cellular metabolic process", - "cell", - "hemolymphoid system", - "abnormal manual digit morphology in the manus", - "abnormal cell", - "anatomical structure", - "Abnormality of blood and blood-forming tissues", - "digit 1", - "Abnormal skull morphology", - "organ system subdivision", - "craniocervical region", - "abnormal anatomical entity", - "skeletal element", - "Abnormality of the head", - "abnormal skull morphology", - "Abnormality of skull size", + "abnormally decreased number of cell", + "abnormal cardiac septum morphology", + "organism substance", + "immune system", + "nucleobase-containing compound metabolic process", + "abnormally decreased number of leukocyte in the blood", + "cavitated compound organ", + "Abnormal leukocyte count", + "intestine", + "Abnormal platelet morphology", + "Abnormal leukocyte morphology", + "Abnormal cellular immune system morphology", + "hormone transport", + "abnormal number of anatomical enitites of type platelet", + "abnormal brain morphology", + "abnormally decreased number of anatomical entity in the multicellular organism", + "forelimb", + "Abnormal forebrain morphology", + "bodily fluid", + "multi-tissue structure", + "Abnormality of the urinary system", "Morphological central nervous system abnormality", - "anatomical collection", - "obsolete cell", - "occurrent", - "abnormal skeletal system morphology", - "Decreased body weight", - "phenotype", - "Irregular hyperpigmentation", - "central nervous system", - "subdivision of skeleton", + "Abnormal skull morphology", "regional part of nervous system", - "abnormal developmental process", - "Abnormality of limb bone morphology", - "abnormality of multicellular organism mass", - "abnormal anatomical entity morphology in the brain", - "Abnormal skeletal morphology", - "axial skeleton plus cranial skeleton", - "limb endochondral element", - "anatomical entity", - "abnormal arm", - "protein-DNA complex organization", - "abnormal telencephalon morphology", - "biological regulation", - "regulation of macromolecule biosynthetic process", - "process", - "cellular organisms", - "multi-tissue structure", - "abnormal forelimb morphology", - "abnormal brain morphology", - "abnormal limb bone", - "Abnormality of limbs", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal central nervous system morphology", - "root", - "primary metabolic process", - "abnormal biological_process", - "abnormal anatomical entity morphology", - "abnormal size of anatomical entity", - "obsolete cellular nitrogen compound metabolic process", - "abnormal bone marrow morphology", - "subdivision of organism along main body axis", - "multicellular anatomical structure", - "skull", - "decreased qualitatively growth", - "delayed growth", - "organism", - "decreased growth", - "Abnormality of the skeletal system", - "abnormality of multicellular organism height", - "anatomical system", - "aplasia or hypoplasia of anatomical entity", - "quality", - "Anal atresia", - "Abnormal cellular physiology", - "abnormal nitrogen compound metabolic process", - "limb segment", - "appendage girdle complex", - "appendicular skeleton", - "Eumetazoa", - "All", + "decreased multicellular organism mass", "Aplasia/Hypoplasia involving the central nervous system", - "organ", - "organism subdivision", - "postcranial axial skeletal system", - "entity", - "abnormal anatomical entity length", - "pectoral complex", - "Abnormality of the musculoskeletal system", - "skeletal system", - "abnormal DNA metabolic process", - "metabolic process", - "digit", - "Phenotypic abnormality", - "anterior region of body", - "Abnormality of the immune system", - "structure with developmental contribution from neural crest", - "Aplasia/hypoplasia of the extremities", - "subdivision of skeletal system", - "negative regulation of gene expression", - "abnormal forebrain morphology", - "Opisthokonta", - "abnormal anatomical entity morphology in the independent continuant", - "Acute myeloid leukemia", - "abnormal limb morphology", - "brain", - "upper limb segment", - "paired limb/fin skeleton", - "Abnormal cerebral morphology", - "postcranial axial skeleton", - "abnormal limb bone morphology", - "Short stature", - "skin of body", - "non-connected functional system", - "Hematological neoplasm", - "abnormal cellular component organization", - "cranial skeletal system", - "head", - "limb", - "abnormal nervous system", - "Metazoa", - "Abnormal axial skeleton morphology", - "continuant", - "specifically dependent continuant", - "Abnormal nervous system morphology", - "Decreased multicellular organism mass", - "material anatomical entity", - "appendage", - "aplasia or hypoplasia of skeleton", - "independent continuant", - "Abnormal leukocyte morphology", - "ectoderm-derived structure", - "abnormal size of skull", - "body proper", - "regulation of biosynthetic process", - "abnormal cellular process", - "Abnormality of brain morphology", + "primary metabolic process", + "forelimb endochondral element", + "Abnormality of the skin", + "abnormal duodenum morphology", + "hypothalamus-pituitary axis", + "signaling", + "abnormal anatomical entity morphology in the heart", + "Abnormality of limb bone", + "central nervous system", "regional part of brain", - "abnormal digit", - "increased pigmentation in skin of body", - "material entity", - "multicellular organism", - "Abnormality of the digestive system", - "Abnormality of head or neck", - "bone element", + "vasculature", + "duodenum atresia", + "external ear", + "abnormal telencephalon morphology", + "Abnormalities of placenta or umbilical cord", + "amide transport", + "forelimb long bone", + "abnormal size of skull", + "Eumetazoa", + "Abnormal umbilical cord blood vessel morphology", + "negative regulation of cellular metabolic process", + "Eukaryota", + "abnormal central nervous system morphology", + "abnormal forebrain morphology", "abnormal nervous system morphology", - "changed biological_process rate in independent continuant", - "abnormal craniocervical region morphology", - "protein-containing complex organization", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal phenotype by ontology source", + "forebrain", + "blood cell", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "decreased biological_process in pituitary gland", + "endocrine gland", + "cranial skeletal system", + "Decreased head circumference", + "Cafe-au-lait spot", + "Hypermelanotic macule", + "late embryo", + "Gastrointestinal atresia", + "abnormal location of anatomical entity", + "reproduction", + "abnormal anatomical entity morphology", + "abnormally decreased number of anatomical entity in the independent continuant", + "increased pigmentation", + "manual digit 2 plus metapodial segment", + "reproductive structure", + "changed biological_process rate", + "increased biological_process in skin of body", + "Abnormal response to endocrine stimulation test", + "absent germ cell", + "abnormal external ear", + "increased biological_process", + "digit 2, 3 or 4", + "Specific learning disability", + "Abnormality of the anterior pituitary", + "decreased size of the anatomical entity", + "abnormal biological_process in independent continuant", + "abnormal appendicular skeleton morphology", + "male organism", + "Irregular hyperpigmentation", + "increased pigmentation in independent continuant", + "placenta", + "organic substance metabolic process", + "heart", + "Abnormality of the head", + "abnormal pigmentation", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "Abnormal duodenum morphology", + "abnormal cell morphology", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "organ part", + "defense response", + "subdivision of tube", + "Decreased anatomical entity mass", + "Abnormality of the upper limb", + "Duodenal atresia", + "Neoplasm by anatomical site", + "respiratory tract", + "alimentary part of gastrointestinal system atresia", + "arm bone", + "Intestinal atresia", + "decreased anatomical entity mass", + "Abnormality of the digestive system", + "abnormal forelimb morphology", + "abnormal digestive system morphology", + "penis", + "digestive system element", + "abnormal alimentary part of gastrointestinal system", + "Morphological abnormality of the gastrointestinal tract", + "Abnormality of body height", + "tube", + "abnormal hormone independent continuant level", + "sensory perception", + "abnormal developmental process", + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "duodenum", + "intestine atresia", + "Abnormal placenta morphology", + "digestive tract", + "Abnormal small intestine morphology", + "abnormal digestive system", + "abnormal response to stimulus", + "abnormal closing of the anatomical entity", + "abnormal small intestine", + "organelle organization", + "postcranial axial skeletal system", + "abnormal spermatogenesis", + "limb segment", + "absent sperm", + "Abnormal lung morphology", + "cellular organisms", + "obsolete multicellular organism reproduction", + "delayed growth", + "abnormal cardiac atrium morphology in the heart", + "extraembryonic structure", + "gamete", + "Abnormality of reproductive system physiology", + "artery", + "germ cell", + "abnormal internal genitalia", + "Abnormality of the genital system", "disconnected anatomical group", - "programmed DNA elimination by chromosome breakage", - "abnormal skeletal system", - "abnormal growth", - "eukaryotic cell", - "decreased embryo development", - "Eukaryota", - "abnormal head morphology", - "negative regulation of cellular process", - "multicellular organism development", - "hematopoietic system", - "mesoderm-derived structure", - "main body axis", - "motile cell", - "negative regulation of cellular metabolic process", - "telencephalon" + "abnormal cell", + "male reproductive organ", + "Abnormal fetal cardiovascular morphology", + "Cryptorchidism", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "abnormal external male genitalia", + "changed biological_process rate in brain", + "haploid cell", + "Abnormality of the outer ear", + "abnormal gamete", + "abnormal male reproductive system", + "semen", + "Abnormal external genitalia", + "abnormally localised anatomical entity in independent continuant", + "male gamete", + "male germ cell", + "Abnormal respiratory system morphology", + "upper urinary tract", + "decreased length of digit", + "manual digitopodium region", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "male reproductive system", + "abnormal number of anatomical enitites of type sperm", + "manual digit", + "abnormal multicellular organismal reproductive process", + "anatomical entity", + "decreased qualitatively biological_process", + "programmed DNA elimination", + "obsolete cell", + "decreased length of long bone", + "digestive system", + "internal male genitalia", + "growth hormone secretion", + "external male genitalia", + "regulation of macromolecule metabolic process", + "abnormal reproductive process", + "absent gamete", + "abnormally localised anatomical entity", + "abnormal vasculature", + "changed developmental process rate", + "abnormal genitourinary system", + "sexual reproduction", + "developmental process involved in reproduction", + "Abnormality of male external genitalia", + "abnormal male reproductive system morphology", + "decreased qualitatively sensory perception of sound", + "abnormal anatomical entity topology in independent continuant", + "Non-obstructive azoospermia", + "reproductive process", + "negative regulation of metabolic process", + "decreased growth hormone secretion", + "manual digit 1 or 5", + "abdominal segment bone", + "developmental process", + "abnormal manual digit morphology in the manus", + "Abnormal internal genitalia", + "amniotic fluid", + "Aplasia/hypoplasia of the extremities", + "Atrial septal defect", + "cardiac atrium", + "abnormal incomplete closing of the interatrial septum", + "export from cell", + "Abnormal reproductive system morphology", + "abnormal cardiovascular system", + "viscus", + "circulatory organ", + "bone marrow cell", + "circulatory system", + "paired limb/fin segment", + "septum", + "Abnormality of the bladder", + "abnormality of reproductive system physiology", + "Abnormal heart morphology" ], - "has_phenotype_count": 11, + "has_phenotype_count": 34, "highlight": null, "score": null }, { - "id": "MONDO:0013248", + "id": "MONDO:0044325", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group O", + "name": "Fanconi anemia, complementation group W", "full_name": null, "deprecated": null, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.", - "xref": ["DOID:0111096", "GARD:15656", "OMIM:613390", "UMLS:C3150653"], + "description": null, + "xref": ["OMIM:617784", "UMLS:C4521564"], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": [ - "FANCO", - "Fanconi Anemia, complementation group type O", - "Fanconi anaemia caused by mutation in RAD51C", - "Fanconi anaemia caused by mutation in Rad51C", - "Fanconi anaemia complementation group type O", - "Fanconi anemia caused by mutation in RAD51C", - "Fanconi anemia caused by mutation in Rad51C", - "Fanconi anemia complementation group type O", - "Fanconi anemia, complementation group O", - "RAD51C Fanconi anaemia", - "RAD51C Fanconi anemia", - "Rad51C Fanconi anaemia", - "Rad51C Fanconi anemia" - ], + "synonym": ["FANCW", "Fanconi anemia, complementation group W"], "uri": null, "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0040012", - "HP:0000107", - "HP:0001245", - "HP:0025023", "HP:0002984", "HP:0009777", - "HP:0000126", - "HP:0000028", - "HP:0009778", - "HP:0009623", - "HP:0001627", - "HP:0003241", - "HP:0004322", - "HP:0002023", - "HP:0003774" + "HP:0000252", + "HP:0002247", + "HP:0002863", + "HP:0001510", + "HP:0002119", + "HP:0001511", + "HP:0001748", + "HP:0000824", + "HP:0002518", + "HP:0002308", + "HP:0031689", + "HP:0011800", + "HP:0000089", + "HP:0410049" ], "has_phenotype_label": [ - "Chromosome breakage", - "Renal cyst", - "Small thenar eminence", - "Rectal atresia", "Hypoplasia of the radius", "Absent thumb", - "Hydronephrosis", - "Cryptorchidism", - "Short thumb", - "Proximal placement of thumb", - "Abnormal heart morphology", - "External genital hypoplasia", - "Short stature", - "Anal atresia", - "Stage 5 chronic kidney disease" + "Microcephaly", + "Duodenal atresia", + "Myelodysplasia", + "Growth delay", + "Ventriculomegaly", + "Intrauterine growth retardation", + "Polysplenia", + "Decreased response to growth hormone stimulation test", + "Abnormal periventricular white matter morphology", + "Chiari malformation", + "Megakaryocyte dysplasia", + "Midface retrusion", + "Renal hypoplasia", + "Abnormal radial ray morphology" ], "has_phenotype_closure": [ - "UPHENO:0086132", - "UPHENO:0002411", - "UPHENO:0002442", - "UBERON:0004121", - "UBERON:0000161", - "UPHENO:0086644", - "UPHENO:0080351", - "HP:0001507", - "GO:0040007", - "UPHENO:0075159", - "HP:0001510", - "UPHENO:0080352", - "UPHENO:0081424", - "HP:0003241", - "UBERON:0010314", - "UBERON:0007100", - "UBERON:0005178", - "UPHENO:0076776", - "UPHENO:0080362", - "UBERON:0015228", - "UBERON:0002075", - "UPHENO:0076810", - "HP:0030680", - "HP:0001626", - "UPHENO:0084834", - "HP:0004097", - "UPHENO:0084829", - "UPHENO:0084841", - "HP:0009381", - "HP:0011927", - "UPHENO:0046624", - "UPHENO:0046411", - "UPHENO:0081755", - "UPHENO:0080382", - "GO:0007276", - "UPHENO:0053580", - "UPHENO:0050108", - "UPHENO:0002595", - "UPHENO:0082875", - "UPHENO:0049985", - "HP:0000811", - "UBERON:0004053", - "UPHENO:0049970", - "UBERON:0000473", - "CL:0000039", - "CL:0000413", - "UBERON:0000990", - "UPHENO:0086023", - 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"UPHENO:0063639", + "UPHENO:0081594", + "HP:0009380", + "UPHENO:0074228", + "UBERON:0000990", + "HP:0009777", "UBERON:0004921", - "UBERON:5006048", - "UBERON:0001008", - "GO:0043933", - "GO:0010556", - "UPHENO:0081792", + "UBERON:0002114", + "UBERON:0000160", + "UBERON:0004733", "UPHENO:0087427", - "GO:0043170", - "UBERON:0012141", - "UPHENO:0080126", - "UBERON:0005172", - "GO:0046483", - "UBERON:0001440", - "GO:0034641", - "UBERON:0012475", - "UBERON:0000481", - "HP:0011314", - "UBERON:0005173", + "UPHENO:0002808", + "HP:0025031", + "UPHENO:0086621", + "GO:0065007", + "UBERON:0005409", + "UPHENO:0087531", + "UPHENO:0002725", + "HP:0012718", + "UPHENO:0009382", + "UPHENO:0088047", + "HP:0002244", + "HP:0001510", + "UPHENO:0076803", + "HP:0002863", + "HP:0007367", + "HP:0001871", + "HP:0004377", + "UPHENO:0081562", + "UPHENO:0000541", + "BFO:0000003", + "HP:0001507", "UPHENO:0049874", - "PATO:0000001", - "UPHENO:0086172", - "BFO:0000004", + "HP:0002597", + "UPHENO:0065599", + "UPHENO:0081598", + "GO:0048856", + "UBERON:0005358", + "UPHENO:0005597", + "UBERON:0005282", + "UBERON:0003947", + "UBERON:0005281", + "UBERON:0000153", + "UBERON:0004086", + "OBI:0100026", + "UPHENO:0001072", + "UPHENO:0076812", + "HP:0002118", + "UPHENO:0001440", + "UPHENO:0080382", + "UPHENO:0005642", + "UPHENO:0081436", + "UPHENO:0080393", + "GO:0009790", + "UPHENO:0050121", + "UBERON:0004121", + "HP:0000924", + "GO:0007275", + "UPHENO:0004459", + "UPHENO:0003116", + "UPHENO:0051804", "UPHENO:0052778", - "UPHENO:0079872", - "UBERON:0002417", - "HP:0025354", - "UPHENO:0049873", - "UPHENO:0049748", - "GO:0065007", - "UBERON:0001423", - "UPHENO:0086201", - "UBERON:0002513", - "UBERON:0000475", - "UBERON:0006058", - "GO:0006996", - "UBERON:0000477", - "UPHENO:0081433", - "HP:0001421", + "UPHENO:0080220", + "HP:0002715", + "UPHENO:0069110", + "UPHENO:0014240", + "UBERON:0002106", + "HP:0040068", + "UPHENO:0002708", + "HP:0100763", "UPHENO:0081466", - "UPHENO:0076703", - "GO:0019222", - "UBERON:0001015", + "CL:0002092", + "UPHENO:0087339", + "UBERON:0002398", + "UBERON:0009569", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0004535", + "UBERON:8600018", + "HP:0031072", + "UPHENO:0075774", "UPHENO:0001005", - "UPHENO:0086198", - "UBERON:0036295", - "UBERON:0005881", - "GO:0048232", - "UPHENO:0081204", - "HP:0011297", - "UPHENO:0075696", - "GO:0050789", - "UPHENO:0050121", - "HP:0000118", - "HP:0002813", - "UBERON:0000463", - "UPHENO:0001003", - "HP:0003220", - "UBERON:0000026", - "UPHENO:0050845", - "HP:0011017", - "GO:0071840", - "HP:0011805", - "GO:0044237", - "HP:0000035", - "GO:0031326", - "UBERON:0006048", - "UPHENO:0005433", - "BFO:0000002", - "GO:0008152", - "GO:0010605", - "UBERON:0001460", - "GO:0031324", - "UBERON:8450002", - "GO:0010558", - "UBERON:0004708", - "CL:0000019", - "HP:0009821", - "UPHENO:0012541", - "GO:0009892", - "BFO:0000015", - "UPHENO:0080079", - "UBERON:0011582", - "UPHENO:0063599", - "UPHENO:0087846", - "UBERON:0001434", + "HP:0000824", + "UPHENO:0002819", + "HP:0001626", + "UBERON:0011249", + "UPHENO:0087267", + "HP:0025408", + "CL:0000988", + "UPHENO:0056059", + "UBERON:0006314", + "UPHENO:0087123", + "UBERON:0001009", + "UBERON:0004177", + "HP:0006265", + "HP:0009799", + "UPHENO:0002948", + "HP:0012210", + "UBERON:0008962", + "UBERON:0001463", + "GO:0071702", + "UBERON:0000916", + "HP:0001511", + "UBERON:0002417", "UPHENO:0002536", - "GO:0009987", - "GO:0090304", - "UBERON:0004535", - "HP:0000119", - "UBERON:0004111", - "HP:0100871", - "UBERON:0000061", - "GO:0060255", - "UPHENO:0049990", - "BFO:0000001", - "UPHENO:0020584", - "UPHENO:0084132", - "UPHENO:0002880", - "UBERON:0000467", - "HP:0040012", - "GO:0048523" + "GO:0032940", + "GO:0030072", + "UBERON:0005173", + "UBERON:0002389", + "UPHENO:0087349", + "UPHENO:0046538", + "UBERON:0000468", + "HP:0001743", + "GO:0006810", + "UBERON:0005057", + "UPHENO:0073937", + "UBERON:0005177", + "UPHENO:0014335", + "UPHENO:0077872", + "UBERON:0000007", + "UPHENO:0080221", + "HP:0032367", + "HP:0002012", + "GO:0007267", + "UPHENO:0002332", + "UBERON:0003466", + "UBERON:0000949", + "UPHENO:0046284", + "UBERON:0003937", + "UBERON:0005156", + "UPHENO:0080588", + "UBERON:0002386", + "UPHENO:0077887", + "UPHENO:0005652", + "HP:0012503", + "GO:0051179", + "UPHENO:0075220", + "UPHENO:0081628", + "UPHENO:0051668", + "UPHENO:0087355", + "UBERON:0000489", + "UBERON:0010323", + "UPHENO:0083689", + "GO:0007154", + "HP:0031071", + "UBERON:0011299", + "UPHENO:0049587", + "BFO:0000015", + "HP:0011747", + "UPHENO:0042775", + "UBERON:0034923", + "UPHENO:0086735", + "GO:0010817", + "UPHENO:0080126", + "UPHENO:0049927", + "UBERON:0015204", + "UPHENO:0087376", + "GO:0050789", + "UBERON:0002196", + "UPHENO:0046540", + "UBERON:0001894", + "HP:0025461", + "UPHENO:0051763", + "UPHENO:0083951", + "UPHENO:0075772", + "HP:0000818", + "UPHENO:0087516", + "UBERON:0010712", + "UPHENO:0076289", + "UPHENO:0076286", + "HP:0040075", + "GO:0046903", + "UPHENO:0011498", + "UBERON:0004381", + "UPHENO:0077890", + "GO:0030252", + "UBERON:0004122", + "UPHENO:0077889", + "UPHENO:0076287", + "CHEBI:24431", + "HP:0010993", + "UPHENO:0076735", + "GO:0015833", + "UBERON:0002316", + "GO:0002790", + "UPHENO:0076953", + "HP:0002180", + "UBERON:0000454", + "UBERON:0019221", + "HP:0002438", + "HP:0002518", + "HP:0000240", + "UPHENO:0086635", + "UBERON:0003544", + "UPHENO:0088186", + "UBERON:0005162", + "NCBITaxon:6072", + "UPHENO:0021803", + "UBERON:0000063", + "UBERON:0011216", + "HP:0011024", + "HP:0001317", + "UPHENO:0072814", + "UBERON:0004732", + "NCBITaxon:33154", + "UPHENO:0071309", + "UPHENO:0081601", + "UBERON:0002204", + "HP:0011282", + "CL:0000763", + "CL:0000000", + "HP:0025033", + "UPHENO:0088145", + "UBERON:0002371", + "HP:0025354" ], "has_phenotype_closure_label": [ - "Abnormal renal physiology", - "Abnormality of the urinary system physiology", - "Stage 5 chronic kidney disease", - "Chronic kidney disease", - "non-functional anatomical entity", - "abnormal anus morphology", - "abnormal anus", - "anus", - "Abnormality of the anus", - "orifice", - "Abnormal anus morphology", - "abnormal size of multicellular organism", - "growth", - "decreased height of the anatomical entity", - "decreased size of the multicellular organism", - "abnormality of anatomical entity height", - "delayed growth", - "Growth delay", - "Abnormality of body height", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "delayed biological_process", - "External genital hypoplasia", - "cardiovascular system", - "abnormal cardiovascular system morphology", - "circulatory organ", - "viscus", - "thoracic segment organ", - "thoracic segment of trunk", - "heart plus pericardium", - "Abnormality of cardiovascular system morphology", - "abnormal cardiovascular system", - "primary circulatory organ", - "structure with developmental contribution from neural crest", - "Deviation of finger", - "Deviation of the hand or of fingers of the hand", - "Short finger", - "decreased length of manual digit", - "decreased length of manual digit 1", - "Short digit", - "decreased length of digit", - "Abnormal reproductive system morphology", - "abnormality of kidney physiology", - "decreased biological_process", - "abnormality of male reproductive system physiology", - "semen", - "developmental process", - "reproduction", - "multicellular organismal process", - "Abnormal testis morphology", - "sexual reproduction", - "developmental process involved in reproduction", - "multicellular organismal reproductive process", - "abnormal reproductive process", - "decreased qualitatively developmental process", - "absent anatomical entity in the semen", - "Short thumb", - "germ line cell", - "gamete generation", - "changed developmental process rate", - "spermatogenesis", - "absent sperm", - "abnormally localised testis", - "abnormal multicellular organismal reproductive process", - "absent gamete", - "reproductive organ", - "organism substance", - "Functional abnormality of male internal genitalia", - "decreased spermatogenesis", - "abnormal male reproductive system", - "absent sperm in the semen", - "obsolete multicellular organism reproduction", - "Azoospermia", - "Abnormality of the male genitalia", - "ectoderm-derived structure", - "male gamete", - "abnormality of reproductive system physiology", - "abnormality of anatomical entity physiology", - "sperm", - "external genitalia", - "gonad", - "male organism", - "abnormal reproductive system morphology", - "abnormal male reproductive organ morphology", - "decreased qualitatively biological_process", - "Abnormal spermatogenesis", - "abnormal internal genitalia", - "external male genitalia", - "testis", - "Abnormality of the genital system", - "decreased qualitatively reproductive process", - "Cryptorchidism", - "abnormally localised anatomical entity", - "decreased developmental process", - "abnormal heart morphology", - "abnormal external genitalia", - "abnormal male reproductive system morphology", - "renal pelvis/ureter", - "Abnormal renal pelvis morphology", - "reproductive process", - "Small thenar eminence", - "Fetal anomaly", - "biological_process", - "protein-containing material entity", - "subdivision of skeleton", - "increased size of the anatomical entity in independent continuant", - "appendage musculature", - "digit 1", - "abnormally dilated anatomical entity", - "increased size of the anatomical entity", - "Proximal placement of thumb", - "abnormal renal pelvis", - "anterior region of body", - "renal pelvis", - "autopodial skeleton", - "cellular component organization or biogenesis", - "Phenotypic abnormality", - "abnormal digit morphology", - "Abnormal large intestine morphology", - "abnormally dilated renal pelvis", - "absent anatomical entity", - "abnormal cellular metabolic process", - "rectum", - "acropodium region", + "Abnormal radial ray morphology", + "Abnormality of the genitourinary system", + "Renal hypoplasia", + "abnormal kidney morphology", + "cavitated compound organ", + "abnormal renal system", + "Abnormal renal morphology", + "compound organ", + "decreased size of the kidney", + "Abnormality of the kidney", + "abnormal kidney", + "abnormal size of kidney", + "Renal hypoplasia/aplasia", + "Abnormality of the upper urinary tract", + "renal system", + "genitourinary system", + "excretory system", + "abnormal face morphology", + "Abnormality of the face", + "anatomical entity hypoplasia in face", + "Midface retrusion", + "abnormal midface morphology", + "abnormal face", + "localization", + "Abnormal duodenum morphology", + "abnormal alimentary part of gastrointestinal system morphology", + "Decreased head circumference", + "organism", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "root", + "appendage", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "abnormal renal system morphology", + "alimentary part of gastrointestinal system", + "abnormal diencephalon", + "abnormal forebrain morphology", + "secretion", + "Eumetazoa", + "Eukaryota", + "tissue", + "craniocervical region", + "regional part of brain", + "Abnormality of brain morphology", + "aplasia or hypoplasia of telencephalon", + "abnormal forelimb zeugopod morphology", + "changed biological_process rate in independent continuant", + "Aplasia/Hypoplasia involving the central nervous system", + "Abnormality of the cardiovascular system", + "Abnormal midface morphology", + "regional part of nervous system", + "abnormal anatomical entity morphology in the brain", + "Abnormal skull morphology", + "Abnormal cerebral morphology", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "main body axis", + "forelimb zeugopod bone", + "nervous system", + "abdominal viscera", + "Abnormality of the head", + "abnormal secretion in independent continuant", + "cellular organisms", + "abnormal digit", + "Metazoa", + "Abnormal hand morphology", + "abnormal manual digit morphology in the independent continuant", + "absent anatomical entity in the independent continuant", + "abnormal manus morphology", + "pectoral appendage skeleton", "Finger aplasia", - "digitopodium region", - "skeleton", - "Absent thumb", - "Abnormal digit morphology", - "aplasia or hypoplasia of manual digit", - "autopodial extension", - "Abnormality of reproductive system physiology", + "autopodial skeleton", + "postcranial axial skeletal system", + "paired limb/fin skeleton", + "haemolymphatic fluid", "digit plus metapodial segment", - "Renal insufficiency", - "manual digitopodium region", - "Abnormal heart morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Forearm undergrowth", - "Aplasia/Hypoplasia of fingers", - "abnormal reproductive system", - "reproductive structure", - "male reproductive organ", - "Abnormal rectum morphology", - "manual digit 1 or 5", - "digit 1 or 5", - "absent manual digit", - "abnormal digit", + "abnormal digit morphology", + "abnormal manus", + "telencephalon", + "abnormal nervous system", + "secretion by cell", + "digit", + "abnormal hormone blood level", + "abnormal manual digit 1 morphology", + "changed embryo development rate", + "Intrauterine growth retardation", "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "aplastic anatomical entity", + "segment of manus", + "protein-containing material entity", + "abnormal skeletal system morphology", + "abnormal biological_process in central nervous system", + "Abnormal digit morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal immune system morphology", + "anterior region of body", + "Absent thumb", + "abnormal autopod region morphology", + "Hematological neoplasm", "agenesis of anatomical entity", - "manual digit", - "rectum atresia", - "Abnormal fetal genitourinary system morphology", - "manual digit 1 plus metapodial segment", - "paired limb/fin skeleton", - "Abnormal appendicular skeleton morphology", - "radius bone hypoplasia", - "Aplasia/hypoplasia involving the skeleton", - "palmar/plantar part of autopod", - "Abnormality of male external genitalia", - "Short long bone", - "mesoderm-derived structure", - "phenotype", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "continuant", - "regulation of macromolecule metabolic process", + "ectoderm-derived structure", + "subdivision of organism along main body axis", + "small intestine", + "Abnormal endocrine morphology", + "manus", + "abnormal limb", + "Abnormality of digestive system morphology", + "cerebral subcortex", + "acropodium region", + "bone marrow", + "skeleton of manus", + "digit 1", + "Gastrointestinal atresia", + "anatomical system", + "digit 1 or 5", + "segmental subdivision of hindbrain", + "segment of autopod", + "multicellular organism development", + "reproductive system", "aplastic manual digit 1", - "abnormal rectum", - "abnormal limb long bone morphology", - "endochondral element", - "abnormal cell", + "abnormal intestine morphology", + "bone cell", + "megakaryocyte", + "independent continuant", + "abnormal growth", + "cerebral hemisphere", + "abnormal size of anatomical entity", + "material anatomical entity", + "manual digit plus metapodial segment", + "Abnormal forearm morphology", + "abnormal anatomical entity", + "mesoderm-derived structure", + "anatomical collection", + "All", + "abnormal telencephalon morphology", + "decreased size of the anatomical entity in the independent continuant", + "Abnormal nervous system morphology", + "abnormal limb bone", "bone element", - "skeleton of limb", "forelimb zeugopod skeleton", - "male reproductive system", - "limb bone", - "abnormal forelimb zeugopod bone", - "abnormal limb bone morphology", - "abnormal forelimb zeugopod morphology", - "abnormal limb bone", - "Aplasia/hypoplasia of the extremities", - "decreased length of forelimb zeugopod bone", - "Abnormal long bone morphology", - "skeleton of pectoral complex", - "abnormal cellular component organization", - "appendicular skeletal system", - "Aplasia/hypoplasia involving forearm bones", - "external soft tissue zone", - "Abnormal skeletal morphology", - "musculature of upper limb", - "anatomical collection", - "zeugopod", - "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "abnormal bone of pectoral complex morphology", - "aplasia or hypoplasia of skeleton", - "forelimb bone", - "limb long bone", - "trunk", - "digit 1 plus metapodial segment", - "radius endochondral element", - "Deviation of the thumb", - "skeletal element", - "Abnormal upper limb bone morphology", - "digit", - "abdominal segment of trunk", - "Abnormality of the skeletal system", - "bone of free limb or fin", - "Abnormal morphology of the radius", - "arm bone", - "radius bone", - "obsolete cellular nitrogen compound metabolic process", - "Abnormality of prenatal development or birth", - "decreased length of anatomical entity in independent continuant", - "endochondral bone", - "upper urinary tract", - "skeletal system", - "internal genitalia", - "anatomical cluster", - "circulatory system", - "subdivision of skeletal system", + "paired limb/fin", "Hypoplasia of the radius", - "decreased length of long bone", - "Limb undergrowth", - "abnormal developmental process", - "Abnormality of limb bone morphology", - "Abnormal forearm morphology", - "abnormal large intestine morphology", - "abnormal growth", - "increased size of the renal pelvis", - "organism", - "Short stature", - "Rectal atresia", + "abnormal head morphology", + "Chiari malformation", + "Abnormal cerebral subcortex morphology", + "Abnormal morphology of the radius", + "multi-limb segment region", + "Forearm undergrowth", + "blood", + "skeletal element", + "zeugopod", + "body proper", + "manual digit", + "Leukoencephalopathy", + "pectoral appendage", + "central nervous system", "Abnormality of limb bone", - "Neoplasm by anatomical site", - "Aplasia/hypoplasia involving bones of the hand", - "Morphological abnormality of the gastrointestinal tract", - "large intestine", - "Abnormal male reproductive system physiology", - "gamete", - "organ part", - "Abnormality of the digestive system", - "Abnormal skeletal muscle morphology", - "Abnormality of the gastrointestinal tract", - "anal region", - "Intestinal atresia", - "alimentary part of gastrointestinal system", - "Neoplasm", - "abnormal location of anatomical entity", - "Abnormality of the musculature of the upper limbs", - "abnormal digestive system", - "subdivision of digestive tract", - "decreased length of anatomical entity", - "abnormal digestive system morphology", - "abnormal external male genitalia", - "late embryo", - "digestive tract", - "material entity", - "abnormal closing of the anatomical entity", - "long bone", - "Abnormal internal genitalia", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Eukaryota", - "Abnormal finger morphology", - "abnormal manual digit 1 morphology", - "abnormal alimentary part of gastrointestinal system", - "Anal atresia", - "abnormal gamete", - "Fetal ultrasound soft marker", - "forelimb zeugopod bone hypoplasia", - "tube", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", - "Abnormality of the cardiovascular system", - "Abnormal cellular physiology", - "abnormal biological_process", - "multi-tissue structure", - "biological regulation", - "organ system subdivision", - "process", - "main body axis", - "aplasia or hypoplasia of radius bone", - "cellular organisms", - "absent anatomical entity in the independent continuant", - "subdivision of organism along appendicular axis", - "male gamete generation", + "head", + "increased size of the anatomical entity", + "limb", + "cell", + "abnormal appendicular skeleton morphology", + "Abnormality of skull size", + "pectoral complex", + "trunk region element", + "decreased developmental process", "zeugopodial skeleton", - "abnormal anatomical entity", - "paired limb/fin", - "Gastrointestinal atresia", - "Metazoa", - "pectoral appendage", - "thenar eminence", + "limb long bone", "Short forearm", - "abnormal intestine morphology", - "male germ cell", - "lateral structure", - "limb", - "paired limb/fin segment", - "Hydronephrosis", - "abnormal manus", - "Dilatation of the renal pelvis", - "abnormal manual digit morphology in the independent continuant", - "anatomical entity atresia", - "abnormal arm", - "Abnormality of the musculature of the hand", + "subdivision of digestive tract", + "delayed biological_process", + "regulation of hormone levels", + "limb endochondral element", + "Abnormality of head or neck", + "hemopoietic organ", + "long bone", + "material entity", + "Abnormal appendicular skeleton morphology", + "Abnormal axial skeleton morphology", + "Abnormal skeletal morphology", + "Abnormal forebrain morphology", + "forelimb", "decreased size of the anatomical entity in the pectoral complex", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "root", - "haploid cell", - "Abnormal renal morphology", - "Abnormality of limbs", - "abnormal alimentary part of gastrointestinal system morphology", - "multi-limb segment region", - "disconnected anatomical group", - "thenar eminence hypoplasia", - "Abnormal intestine morphology", - "abnormal forelimb morphology", - "organ", - "protein-DNA complex organization", - "trunk region element", - "pectoral complex", - "abnormal thenar eminence", - "abnormal musculature of manus", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormality of the thenar eminence", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the hand", - "subdivision of organism along main body axis", - "abnormal muscle organ morphology", - "Non-obstructive azoospermia", - "absent anatomical entity in the multicellular organism", - "abnormal number of anatomical enitites of type cell", - "abnormal anatomical entity length", - "Abnormality of the musculoskeletal system", - "abnormal rectum morphology", - "abnormally localised anatomical entity in independent continuant", + "Aplasia/hypoplasia of the extremities", + "Aplasia/hypoplasia involving bones of the hand", + "bone element hypoplasia in independent continuant", "musculoskeletal system", - "decreased size of the anatomical entity", - "compound organ", - "autopod region", - "abnormal spatial pattern of anatomical entity", - "abnormal limb", - "Abnormal hand morphology", - "forelimb long bone", - "cell", - "phenotype by ontology source", - "abnormal manus morphology", - "abnormal cellular process", - "regulation of biosynthetic process", - "abnormal musculature of upper limb", - "pectoral appendage musculature", - "digestive system", - "musculature", + "absent digit", + "organic substance transport", + "abnormal brain white matter morphology", + "Abnormal hindbrain morphology", + "phenotype", + "brain ventricle/choroid plexus", + "peptide transport", + "Abnormal cell morphology", + "anatomical entity hypoplasia", + "forelimb bone", + "hormone secretion", + "endocrine system", "forelimb skeleton", - "musculature of body", - "bone of appendage girdle complex", - "muscle organ", - "anatomical entity hypoplasia in independent continuant", - "digestive system element", - "non-functional kidney", - "abnormal size of anatomical entity", + "abnormal localization", + "abnormal duodenum morphology", + "forelimb endochondral element", + "abnormal axial skeleton plus cranial skeleton morphology", "Opisthokonta", - "abnormal palmar part of manus morphology", - "abnormal late embryo", - "manual digit 1", - "Abnormality of the musculature of the limbs", - "manual digit plus metapodial segment", + "lymphoid system", + "skeleton of limb", + "Abnormality of the hypothalamus-pituitary axis", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of the lymphatic system", + "limb bone", + "kidney hypoplasia", + "abnormal craniocervical region morphology", + "continuant", + "lateral structure", + "skeleton of pectoral complex", + "decreased length of anatomical entity in independent continuant", + "skeleton", + "abnormal cerebellum morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "forelimb zeugopod", + "anatomical structure development", + "Aplasia/Hypoplasia of fingers", + "abnormal blood chemical entity level", + "digitopodium region", + "subdivision of skeleton", + "Aplasia/Hypoplasia of the radius", + "endochondral bone", + "subdivision of organism along appendicular axis", + "abnormal growth hormone secretion", + "Abnormality of the vasculature", + "abnormal central nervous system morphology", + "skull", "limb skeleton subdivision", - "musculature of limb", - "abnormal musculature of limb", - "negative regulation of macromolecule biosynthetic process", - "Abnormality of the genitourinary system", - "germ cell", - "abnormal spermatogenesis", - "segment of manus", - "musculature of pectoral complex", + "Upper limb undergrowth", + "abnormal forelimb zeugopod bone", + "Phenotypic abnormality", + "decreased length of anatomical entity", + "bone of pectoral complex", + "entity", + "subdivision of skeletal system", + "postcranial axial skeleton", + "decreased qualitatively developmental process", + "abnormal manual digit morphology in the manus", + "Abnormality of the hand", + "radius bone", + "forelimb zeugopod bone hypoplasia", + "abnormal limb bone morphology", + "immune organ", + "abnormal phenotype by ontology source", + "absent manual digit", + "duodenum atresia", + "vasculature", + "abnormal hemopoietic organ morphology", + "organ system subdivision", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "Hypopituitarism", + "brain", "abnormal anatomical entity morphology in the independent continuant", + "aplasia or hypoplasia of manual digit 1", + "system", + "appendicular skeletal system", + "abnormal spleen morphology", + "abnormal chemical entity level", + "absent anatomical entity in the multicellular organism", "multicellular organism", - "abnormality of renal system physiology", - "programmed DNA elimination by chromosome breakage", - "Anorectal anomaly", - "organism subdivision", - "thoracic cavity element", - "Abnormality of the kidney", - "abnormality of internal male genitalia physiology", - "abnormal gamete generation", - "cavitated compound organ", - "abnormal kidney", - "body proper", + "hematopoietic system", + "Abnormal growth hormone level", + "Aplasia/hypoplasia involving the skeleton", + "abnormal anatomical entity morphology in the appendage girdle complex", + "bone of appendage girdle complex", + "anatomical wall", + "abnormal anatomical entity morphology in the pectoral complex", + "cerebellum", + "decreased biological_process", + "radius bone hypoplasia", "aplasia or hypoplasia of anatomical entity", - "forelimb zeugopod bone", - "quality", - "abdomen element", - "subdivision of trunk", - "genitourinary system", - "negative regulation of cellular biosynthetic process", - "anatomical system", - "palmar part of manus", - "abnormal anatomical entity morphology in the palmar part of manus", - "Aplasia/hypoplasia involving bones of the extremities", - "alimentary part of gastrointestinal system atresia", - "abnormal genitourinary system", - "Renal cyst", - "Abnormal forearm bone morphology", - "regulation of cellular metabolic process", - "regulation of biological process", - "Abnormal thumb morphology", - "arm", - "abnormal limb morphology", - "bone element hypoplasia in independent continuant", - "abnormal anatomical entity morphology", - "primary metabolic process", - "cellular component organization", - "abnormal kidney morphology", - "system", - "negative regulation of macromolecule metabolic process", - "organic substance metabolic process", - "abnormal DNA metabolic process", - "abnormal chromatin organization", - "forelimb", - "embryo", - "appendage", - "musculature of manus", - "material anatomical entity", - "anus atresia", - "abdomen", - "changed biological_process rate", - "abnormal metabolic process", - "abnormal renal pelvis morphology", - "chromatin organization", - "abnormal renal system", - "abnormal musculature", - "abnormal appendicular skeleton morphology", - "Eumetazoa", - "segment of autopod", - "negative regulation of metabolic process", - "nucleobase-containing compound metabolic process", - "abnormal skeletal system morphology", - "obsolete cell", - "deviation of anatomical entity", - "absent sperm in the independent continuant", - "internal male genitalia", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "abnormally formed cerebellum", + "Abnormal forearm bone morphology", + "abnormal metencephalon morphology", + "Abnormality of the skeletal system", + "Microcephaly", + "Abnormality of the musculoskeletal system", + "pituitary gland", + "abnormal nervous system morphology", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "abnormal cell morphology", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "abnormally increased number of anatomical entity in the abdomen", + "abnormal arm", + "radius endochondral element", + "Aplasia/hypoplasia involving forearm bones", + "Neurodegeneration", + "multicellular organismal process", + "ventricular system of brain", + "anatomical entity hypoplasia in independent continuant", + "organism subdivision", + "organ", "occurrent", - "regulation of cellular process", - "regulation of gene expression", - "intestine atresia", - "abnormal nitrogen compound metabolic process", - "appendage girdle complex", - "abnormal anatomical entity topology in independent continuant", + "glandular system", + "skeletal system", + "Abnormal cerebellum morphology", + "upper limb segment", + "appendicular skeleton", + "abnormal upper urinary tract", + "Limb undergrowth", + "abnormal head", + "arm", "limb segment", - "cellular process", - "forelimb zeugopod", - "cellular metabolic process", + "adenohypophysis", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "decreased size of the radius bone", + "Abnormal cellular phenotype", + "abnormal development of anatomical entity", + "subdivision of trunk", + "Abnormal thumb morphology", + "phenotype by ontology source", + "abnormal endocrine gland morphology", + "digit 1 plus metapodial segment", "abnormal skeletal system", - "Abnormal fetal morphology", - "macromolecule metabolic process", - "bone of pectoral complex", - "abnormal upper urinary tract", - "specifically dependent continuant", + "Abnormal upper limb bone morphology", + "quality", + "decreased biological_process in multicellular organism", + "manual digit 1", + "autopodial extension", + "organ part", "subdivision of tube", - "regulation of metabolic process", - "organic cyclic compound metabolic process", - "obsolete cellular aromatic compound metabolic process", - "abnormal anatomical entity morphology in the manus", - "kidney", - "absent anatomical entity in the forelimb", - "appendicular skeleton", - "All", - "pectoral appendage skeleton", - "Abnormal cellular phenotype", - "abnormal number of anatomical enitites of type sperm", - "Abnormality of the musculature", - "abnormal manual digit morphology in the manus", - "abnormal anatomical entity morphology in the pectoral complex", - "nucleic acid metabolic process", - "decreased size of the anatomical entity in the independent continuant", - "metabolic process", - "decreased size of the radius bone", - "abnormal phenotype by ontology source", - "negative regulation of cellular metabolic process", - "abnormal long bone morphology", - "entity", - "deviation of manual digit 1", - "internal anal region", - "protein-containing complex organization", - "Chromosome breakage", - "Abnormality of the urinary system", - "anatomical structure", - "Abnormality of metabolism/homeostasis", + "reproductive organ", + "abnormal skull morphology", + "Short long bone", + "reproductive gland", + "Abnormality of the upper limb", + "Duodenal atresia", + "Neoplasm by anatomical site", + "alimentary part of gastrointestinal system atresia", + "abnormal cerebral hemisphere morphology", + "arm bone", + "Intestinal atresia", + "Abnormality of the gastrointestinal tract", + "Abnormality of the digestive system", + "abnormal limb long bone morphology", + "abnormal small intestine morphology", + "abnormal forelimb morphology", + "abnormal digestive system morphology", + "digestive system element", + "abnormal alimentary part of gastrointestinal system", + "abnormal biological_process in nervous system", + "Morphological abnormality of the gastrointestinal tract", + "abnormal gland morphology", + "tube", + "abnormal hormone independent continuant level", + "brain white matter", + "abnormal developmental process", "intestine", - "abnormal programmed DNA elimination by chromosome breakage", - "lower digestive tract", - "renal system", - "Upper limb undergrowth", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "anatomical conduit", - "deviation of manual digit", - "obsolete nitrogen compound metabolic process", - "Abnormality of the upper urinary tract", - "regulation of cellular biosynthetic process", - "independent continuant", - "abnormal organelle organization", - "excretory system", - "negative regulation of cellular process", - "anatomical entity hypoplasia", - "terminal part of digestive tract", + "upper urinary tract", + "manual digitopodium region", + "Abnormality of blood and blood-forming tissues", + "duodenum", + "intestine atresia", + "Abnormal endocrine physiology", + "digestive tract", + "Neoplasm", + "decreased qualitatively biological_process in independent continuant", + "Abnormal intestine morphology", + "regulation of biological quality", + "Abnormal pituitary gland morphology", + "abnormal cerebral subcortex morphology", + "midface hypoplasia", + "Abnormal small intestine morphology", + "abnormal digestive system", + "metencephalon", + "abnormal closing of the anatomical entity", + "abnormal small intestine", + "anatomical entity atresia", + "abnormality of anatomical entity physiology", + "abnormal hematopoietic system", + "hemolymphoid system", + "Myelodysplasia", + "cell communication", + "biological_process", + "process", + "delayed growth", + "axial skeletal system", + "abnormal adenohypophysis", "Growth abnormality", - "abnormal renal system morphology", - "abnormal developmental process involved in reproduction", - "Abnormal external genitalia", - "muscle structure", - "programmed DNA elimination", - "heart", - "upper limb segment", - "limb endochondral element", + "aplasia or hypoplasia of manual digit", + "face", + "kidney", + "Growth delay", + "abnormal biological_process", + "abnormal role bodily fluid level", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "increased size of the brain ventricle", + "increased size of the anatomical entity in independent continuant", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "organ component layer", + "ventricular system of central nervous system", + "paired limb/fin segment", + "Ventriculomegaly", + "abnormal brain ventricle morphology", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "abnormal brain ventricle/choroid plexus morphology", + "decreased length of forelimb zeugopod bone", + "brain ventricle", + "changed biological_process rate", + "abnormal embryo development", "anatomical entity", - "Abnormal palm morphology", - "abnormal autopod region morphology", - "absent germ cell", - "forelimb endochondral element", - "DNA metabolic process", - "manus", - "abnormal primary metabolic process", - "reproductive system", - "abnormal testis morphology", - "Fetal pyelectasis", - "negative regulation of biosynthetic process", - "absent digit", + "decreased qualitatively biological_process", + "decreased embryo development", + "spleen", + "Abnormality of the immune system", + "vascular system", + "lymphatic part of lymphoid system", + "abnormal genitourinary system", + "changed developmental process rate", + "abnormal vasculature", + "Polysplenia", + "anatomical cluster", + "manual digit 1 plus metapodial segment", + "abdomen", "abdominal segment element", - "obsolete heterocycle metabolic process", - "organelle organization", - "absent anatomical entity in the limb", - "Abnormality of the upper limb", - "Abnormality of digestive system morphology", - "negative regulation of biological process", - "negative regulation of gene expression" + "viscus", + "Supernumerary spleens", + "transport", + "abnormal immune system", + "abnormal hematopoietic system morphology", + "abnormal hindbrain morphology", + "gland", + "abnormal cell", + "disconnected anatomical group", + "abnormally increased number of anatomical entity", + "white matter of telencephalon", + "bone marrow cell", + "circulatory system", + "immune system", + "Abnormal spleen morphology", + "chemical entity", + "cardiovascular system", + "abnormal lymphatic part of lymphoid system", + "peptide secretion", + "abnormal spleen", + "central nervous system cell part cluster", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormality of the abdominal organs", + "anatomical conduit", + "abnormal limb morphology", + "Abnormality of the spleen", + "abdomen element", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "changed biological_process rate in brain", + "abnormally increased number of spleen", + "abnormal transport", + "abnormally increased number of anatomical entity in the independent continuant", + "Anterior hypopituitarism", + "peptide hormone secretion", + "neuroendocrine system", + "absent anatomical entity", + "decreased biological_process in independent continuant", + "abnormal bone marrow morphology", + "abnormal hypothalamus-pituitary axis", + "Abnormal metencephalon morphology", + "non-connected functional system", + "abnormality of endocrine system physiology", + "Decreased response to growth hormone stimulation test", + "regulation of biological process", + "signaling", + "hypothalamus-pituitary axis", + "malformed anatomical entity", + "aplastic anatomical entity", + "nitrogen compound transport", + "Abnormal cerebral white matter morphology", + "Abnormal response to endocrine stimulation test", + "Abnormality of bone marrow cell morphology", + "Abnormality of the endocrine system", + "abnormal cellular process", + "hindbrain", + "abnormal endocrine system", + "multi-tissue structure", + "bodily fluid", + "abnormal diencephalon morphology", + "ventricle of nervous system", + "abnormal role independent continuant level", + "decreased size of the anatomical entity", + "Abnormality of the anterior pituitary", + "abnormal biological_process in independent continuant", + "Abnormality of the diencephalon", + "organism substance", + "gland of diencephalon", + "abnormal pituitary gland morphology", + "abnormal size of brain ventricle", + "abnormal secretion by cell", + "decreased biological_process in brain", + "abnormal independent continuant chemical entity level", + "manual digit 1 or 5", + "developmental process", + "decreased growth hormone secretion", + "abnormal endocrine system morphology", + "decreased secretion in independent continuant", + "abnormal bone of pectoral complex morphology", + "decreased qualitatively biological_process in central nervous system", + "abnormal anatomical entity morphology in the manus", + "abnormal role blood level", + "reproductive structure", + "neuroendocrine gland", + "Abnormal circulating hormone concentration", + "endochondral element", + "abnormal neuroendocrine gland morphology", + "abnormal cardiovascular system", + "export from cell", + "signal release", + "abnormal brain morphology", + "hormone transport", + "endocrine gland", + "cranial skeletal system", + "decreased biological_process in pituitary gland", + "abdominal segment of trunk", + "biological regulation", + "abnormal size of skull", + "forelimb long bone", + "amide transport", + "abnormal multicellular organism chemical entity level", + "Aplasia/Hypoplasia of the thumb", + "decreased secretion in pituitary gland", + "hematopoietic cell", + "growth hormone secretion", + "anatomical entity degeneration in independent continuant", + "establishment of localization", + "cell-cell signaling", + "Abnormal periventricular white matter morphology", + "multi cell part structure", + "cellular process", + "cerebral hemisphere white matter", + "subdivision of head", + "appendage girdle complex", + "abnormal megakaryocyte morphology", + "forebrain", + "white matter of forebrain", + "midface", + "white matter", + "diencephalon", + "abnormal radius bone morphology", + "embryo development", + "cerebral hemisphere white matter degeneration", + "abnormal cerebral hemisphere white matter morphology", + "anatomical entity degeneration", + "Abnormal finger morphology", + "Atrophy/Degeneration affecting the central nervous system", + "decreased length of long bone", + "digestive system", + "Cerebellar malformation", + "organ subunit", + "segmental subdivision of nervous system", + "abnormally formed anatomical entity in independent continuant", + "abnormally formed anatomical entity", + "myeloid cell", + "Megakaryocyte dysplasia", + "Abnormal megakaryocyte morphology", + "trunk", + "abnormal bone marrow cell" ], - "has_phenotype_count": 15, + "has_phenotype_count": 16, "highlight": null, "score": null }, { - "id": "MONDO:0013565", + "id": "MONDO:0013248", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group G", + "name": "Fanconi anemia complementation group O", "full_name": null, "deprecated": null, - "description": "Fanconi anemia caused by mutations of the FANCG gene.", - "xref": ["DOID:0111086", "GARD:15753", "NCIT:C125708", "OMIM:614082"], + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.", + "xref": ["DOID:0111096", "GARD:15656", "OMIM:613390", "UMLS:C3150653"], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, "symbol": null, "synonym": [ - "FANCG", - "Fanconi Anemia, complementation group type G", - "Fanconi anaemia complementation group type G", - "Fanconi anemia complementation group G", - "Fanconi anemia complementation group type G", - "Fanconi anemia, complementation group G" + "FANCO", + "Fanconi Anemia, complementation group type O", + "Fanconi anaemia caused by mutation in RAD51C", + "Fanconi anaemia caused by mutation in Rad51C", + "Fanconi anaemia complementation group type O", + "Fanconi anemia caused by mutation in RAD51C", + "Fanconi anemia caused by mutation in Rad51C", + "Fanconi anemia complementation group type O", + "Fanconi anemia, complementation group O", + "RAD51C Fanconi anaemia", + "RAD51C Fanconi anemia", + "Rad51C Fanconi anaemia", + "Rad51C Fanconi anemia" ], "uri": null, "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0001875", - "HP:0002863", - "HP:0000252", - "HP:0001510", - "HP:0001873", - "HP:0007565", - "HP:0000568", - "HP:0001172", - "HP:0001903", - "HP:0003220", - "HP:0001909" + "HP:0040012", + "HP:0002984", + "HP:0009777", + "HP:0001627", + "HP:0001245", + "HP:0002023", + "HP:0000126", + "HP:0000028", + "HP:0009778", + "HP:0009623", + "HP:0000107", + "HP:0003241", + "HP:0004322", + "HP:0003774", + "HP:0025023" ], "has_phenotype_label": [ - "Neutropenia", - "Myelodysplasia", - "Microcephaly", - "Growth delay", - "Thrombocytopenia", - "Multiple cafe-au-lait spots", - "Microphthalmia", - "Abnormal thumb morphology", - "Anemia", - "Abnormality of chromosome stability", - "Leukemia" + "Chromosome breakage", + "Hypoplasia of the radius", + "Absent thumb", + "Abnormal heart morphology", + "Small thenar eminence", + "Anal atresia", + "Hydronephrosis", + "Cryptorchidism", + "Short thumb", + "Proximal placement of thumb", + "Renal cyst", + "External genital hypoplasia", + "Short stature", + "Stage 5 chronic kidney disease", + "Rectal atresia" ], "has_phenotype_closure": [ - "GO:0005623", - "UPHENO:0088162", - "CL:0000329", - "CL:0000764", - "CL:0000232", - "UPHENO:0086700", - "UPHENO:0002896", - "UBERON:5002544", - "UBERON:0010707", - "HP:0003220", - "UBERON:0004708", - "HP:0001167", - "UBERON:0010740", + "NCBITaxon:33154", + "HP:0002242", + "UPHENO:0002714", + "UPHENO:0087006", + "NCBITaxon:2759", "UBERON:5001463", - 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"HP:0034242", + "UBERON:8450002", + "UBERON:0000916", + "UBERON:0002417", + "UBERON:0005173", + "OBI:0100026", + "UPHENO:0001072", "UBERON:0034923", - "BFO:0000040", - "UPHENO:0076675", - "CL:0000081", - "UPHENO:0087518", - "HP:0004377", - "UBERON:0019231", - "UBERON:0011249", - "UPHENO:0085076", - "HP:0000953", - "UPHENO:0087089", + "UPHENO:0084834", + "UBERON:0004054", + "UBERON:0008962", + "UBERON:0001463", + "HP:0012210", + "UPHENO:0076779", + "UBERON:0010538", + "UPHENO:0001478", + "UBERON:0010712", + "HP:0000080", + "UPHENO:0077426", + "UBERON:0000079", + "UPHENO:0086201", + "UPHENO:0085873", + "CL:0000586", + "HP:0000028", + "UPHENO:0081423", + "UBERON:0008878", + "UBERON:0005409", + "HP:0001627", + "UPHENO:0049970", + "UPHENO:0003055", + "UBERON:0005156", + "GO:0000003", + "HP:0000811", + "HP:0012243", + "UPHENO:0085194", + "HP:0001172", + "HP:0002973", + "UBERON:0011676", + "HP:0000025", + "UPHENO:0049985", + "HP:0010944", + "HP:0001510", + "UPHENO:0086023", + "UPHENO:0080369", + "CL:0000408", + "GO:0007283", + "UBERON:0000481", "UBERON:0004288", - "UBERON:0012354", - "UBERON:0002390", - "UBERON:0000465", - "HP:0020047", - "UBERON:0000026", - "UPHENO:0087924", - "UPHENO:0001003" - ], - "has_phenotype_closure_label": [ - "Leukemia", - "Abnormality of metabolism/homeostasis", - "oxygen accumulating cell", - "Anemia", - "abnormal erythroid lineage cell morphology", - "abnormal erythrocyte morphology", - "subdivision of organism along appendicular axis", - "forelimb", - "paired limb/fin", - "Abnormal appendicular skeleton morphology", - "pectoral appendage", - "abnormal anatomical entity morphology in the pectoral complex", - "erythrocyte", - "abnormal digit morphology", - "abnormal manus", - "digitopodium region", - "manual digit 1", - "digit 1 plus metapodial segment", - "limb bone", - "abnormal limb", - "abnormal arm", - "Abnormal digit morphology", - "abnormal forelimb morphology", - "autopodial extension", - "digit plus metapodial segment", - "abnormal limb bone morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormal thumb morphology", - "abnormal appendicular skeleton morphology", - "segment of autopod", - "upper limb segment", - "Abnormal erythroid lineage cell morphology", - "manual digit 1 or 5", - "Abnormal hand morphology", - "abnormal manual digit morphology in the independent continuant", - "Abnormal cellular physiology", - "appendage girdle complex", - "limb segment", - "digit 1 or 5", - "endochondral bone", - "bone of appendage girdle complex", - "manual digit", - "Abnormality of limb bone morphology", - "Abnormality of the upper limb", - "Abnormal finger morphology", - "eye", - "orbital region", - "bone of free limb or fin", - "decreased size of the anatomical entity in the independent continuant", - "abnormal size of eyeball of camera-type eye", - "Microphthalmia", - "subdivision of head", - "entire sense organ system", - "Abnormality of the orbital region", - "Abnormal eye morphology", - "eyeball of camera-type eye", - "camera-type eye", - "digit 1", - "simple eye", - "lateral structure", - "Abnormal erythrocyte morphology", - "decreased size of the eyeball of camera-type eye", - "Abnormality of globe size", - "abnormal face", - "integumental system", - "pigmentation", - "manual digitopodium region", - "Macule", - "Abnormality of the integument", - "abnormal pigmentation", - "increased pigmentation in independent continuant", - "Hyperpigmentation of the skin", - "increased qualitatively biological_process in independent continuant", - "Abnormality of chromosome stability", - "Abnormality of skin morphology", - "Abnormality of the skin", - "increased biological_process", - "changed biological_process rate", - "abnormal integument", - "increased biological_process in skin of body", - "increased pigmentation", - "Hypermelanotic macule", - "abnormal pigmentation in independent continuant", - "abnormal biological_process in independent continuant", + "UPHENO:0002830", + "UBERON:0015228", + "CL:0000015", + "UPHENO:0002597", + "GO:0007276", + "UBERON:0000991", + "HP:0011024", + "UBERON:0011216", + "UBERON:0004175", + "UBERON:0004176", + "HP:0008669", + "UBERON:0003606", + "UPHENO:0021561", + "HP:0000035", + "HP:0004322", + "UPHENO:0087973", + "UPHENO:0086198", + "UBERON:0004122", + "UPHENO:0002595", + "CL:0000413", + "CL:0000039", + "GO:0050794", + "UPHENO:0085875", + "UBERON:0014793", + "HP:0009603", + "UBERON:0004111", + "UPHENO:0080377", + "HP:0000032", + "UPHENO:0078729", + "UBERON:0000463", + "UPHENO:0076735", + "UPHENO:0078452", + "UPHENO:0053298", + "UBERON:0001052", + "UBERON:0005090", + "HP:0000078", + "HP:0012622", + "UBERON:0001968", + "UBERON:0005177", + "HP:0011277", + "UBERON:0000473", + "UBERON:0004053", + "UPHENO:0002598", + "UPHENO:0049367", + "UPHENO:0046411", + "UPHENO:0046707", + "HP:0009381", + "UPHENO:0011498", + "UBERON:0004381", + "UPHENO:0046624", + "HP:0009623", + "UBERON:0012361", + "HP:0004097", + "UPHENO:0050101", + "UBERON:0001353", + "HP:0009484", + "UPHENO:0084829", + "UPHENO:0080351", + "GO:0010468", + "UPHENO:0000541", + "UBERON:0003466", + "UPHENO:0069254", + "UPHENO:0076740", + "HP:0100871", + "HP:0000002", + "HP:0001507", + "UPHENO:0049874", + "UPHENO:0000543", + "UBERON:0013522", + "HP:0012211", + "UPHENO:0002411", + "HP:0003774", + "UPHENO:0076773", + "HP:0002589", + "UPHENO:0063629", + "HP:0011100", + "HP:0012732", + "NCBITaxon:1", + "UPHENO:0084124", + "UPHENO:0087346", + "HP:0009777", + "UBERON:0004921", + "UBERON:0000160", + "HP:0002034", + "UPHENO:0002725", + "HP:0012718", + "HP:0025023" + ], + "has_phenotype_closure_label": [ + "rectum atresia", + "abnormal rectum", + "Abnormal intestine morphology", + "lower digestive tract", + "intestine", + "rectum", + "internal anal region", + "abnormal alimentary part of gastrointestinal system", + "Anorectal anomaly", + "Abnormality of the gastrointestinal tract", + "Morphological abnormality of the gastrointestinal tract", + "large intestine", + "subdivision of tube", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "Metazoa", + "Rectal atresia", + "abnormal alimentary part of gastrointestinal system morphology", + "Chronic kidney disease", + "Abnormal renal physiology", + "Renal insufficiency", + "Abnormality of the urinary system physiology", + "Intestinal atresia", + "non-functional kidney", + "growth", + "decreased height of the anatomical entity", + "digestive system element", + "Growth delay", + "decreased size of the multicellular organism", + "Abnormality of body height", + "Renal cyst", + "deviation of manual digit", + "intestine atresia", + "Proximal placement of thumb", + "Eukaryota", + "Eumetazoa", + "decreased length of manual digit", + "decreased length of manual digit 1", + "Short digit", + "Short finger", + "developmental process", + "reproductive process", + "abnormally localised testis", + "abnormal anatomical entity topology in independent continuant", + "abnormal male reproductive system morphology", + "Abnormality of male external genitalia", + "developmental process involved in reproduction", + "abnormally localised anatomical entity", + "abnormal reproductive system", + "absent gamete", + "sperm", + "male organism", + "reproductive structure", + "abnormal reproductive process", + "decreased qualitatively developmental process", + "testis", + "internal male genitalia", + "abnormal multicellular organismal reproductive process", + "abnormal number of anatomical enitites of type sperm", + "Azoospermia", + "Abnormality of the male genitalia", + "male germ cell", + "abnormality of multicellular organism height", + "male gamete", + "abnormally localised anatomical entity in independent continuant", + "abnormal large intestine morphology", + "absent sperm in the independent continuant", + "organism substance", + "semen", + "abnormal male reproductive system", + "male reproductive system", + "reproduction", + "abnormal location of anatomical entity", + "abnormal developmental process involved in reproduction", + "decreased developmental process", + "reproductive organ", + "spermatogenesis", + "gamete generation", + "absent anatomical entity in the semen", + "abnormal gamete", "abnormal number of anatomical enitites of type cell", - "increased qualitatively biological_process", - "manual digit 1 plus metapodial segment", - "sense organ", - "Abnormal cellular immune system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal platelet morphology", - "biogenic amine secreting cell", - "abnormal hematopoietic cell morphology", - "anucleate cell", - "arm", - "abnormal face morphology", - "secretory cell", - "serotonin secreting cell", - "system", - "Abnormality of the hand", - "abnormally decreased number of platelet", - "abnormal platelet", - "Abnormal myeloid cell morphology", - "biological_process", - "skeleton of limb", - "nervous system", - "Growth abnormality", + "external genitalia", + "internal genitalia", + "gonad", + "Abnormality of the genital system", + "abnormal internal genitalia", + "germ cell", + "Abnormality of reproductive system physiology", + "gamete", + "obsolete multicellular organism reproduction", + "absent sperm", + "abnormality of reproductive system physiology", + "abnormal spermatogenesis", + "changed biological_process rate", + "absent germ cell", + "abnormal renal system morphology", + "Abnormality of prenatal development or birth", + "multi-tissue structure", + "External genital hypoplasia", + "abnormally dilated anatomical entity", + "kidney", + "sexual reproduction", + "abnormal genitourinary system", + "increased size of the renal pelvis", + "late embryo", + "abnormal renal system", + "Abnormal renal morphology", + "embryo", + "renal pelvis", + "Abnormality of the kidney", + "renal pelvis/ureter", + "disconnected anatomical group", + "abdominal segment of trunk", + "abdomen", + "decreased length of digit", + "anatomical cluster", + "Abnormality of the upper urinary tract", + "renal system", + "Abnormal fetal genitourinary system morphology", + "organ part", + "increased size of the anatomical entity in independent continuant", + "Abnormal fetal morphology", + "Abnormal renal pelvis morphology", + "abnormally dilated renal pelvis", + "abnormal late embryo", + "Fetal pyelectasis", + "abnormal renal pelvis", + "abnormal renal pelvis morphology", + "abnormal external male genitalia", + "Fetal anomaly", + "upper urinary tract", + "Anal atresia", + "Dilatation of the renal pelvis", + "anus atresia", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "abnormal anus", + "abnormal closing of the anatomical entity", + "abnormal digestive system", + "deviation of manual digit 1", + "digestive tract", + "multicellular organismal reproductive process", + "anatomical conduit", + "anus", + "abnormal digestive system morphology", + "Neoplasm by anatomical site", + "digestive system", + "abnormality of male reproductive system physiology", + "abnormal developmental process", + "tube", + "abnormal muscle organ morphology", + "musculature of upper limb", + "haploid cell", + "appendage musculature", + "musculature of body", + "Abnormality of the musculature of the upper limbs", + "cavitated compound organ", + "abnormal musculature of upper limb", + "Abnormality of the musculature of the limbs", + "Abnormality of the musculature of the hand", + "germ line cell", + "thenar eminence hypoplasia", + "Abnormal palm morphology", + "musculature", + "Abnormality of the thenar eminence", + "abnormal musculature of limb", + "Abnormal rectum morphology", + "Abnormal testis morphology", + "Abnormal skeletal muscle morphology", + "musculature of manus", + "abnormal musculature", + "abnormal heart morphology", + "Cryptorchidism", + "heart plus pericardium", + "Abnormal heart morphology", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "Fetal ultrasound soft marker", + "excretory system", + "circulatory system", "body proper", - "Abnormality of brain morphology", - "manus", - "Abnormal cell morphology", - "Abnormal forebrain morphology", - "Aplasia/Hypoplasia of the cerebrum", - "increased pigmentation in skin of body", - "material entity", - "abnormal blood cell morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "organ", - "organism subdivision", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormal nervous system morphology", - "abnormal telencephalon morphology", - "quality", + "abnormal cardiovascular system morphology", + "circulatory organ", + "viscus", + "Gastrointestinal atresia", + "trunk", + "limb endochondral element", + "subdivision of digestive tract", + "delayed biological_process", + "Short forearm", + "increased size of the anatomical entity", + "abnormal limb bone", + "limb bone", + "abnormal number of anatomical enitites of type anatomical entity", + "Deviation of the thumb", + "Abnormal male reproductive system physiology", + "subdivision of organism along appendicular axis", + "radius bone hypoplasia", + "Functional abnormality of male internal genitalia", + "abnormal anatomical entity morphology in the pectoral complex", "aplasia or hypoplasia of anatomical entity", - "process", - "cellular organisms", - "multi-tissue structure", - "main body axis", - "delayed growth", - "organism", - "manual digit plus metapodial segment", - "limb skeleton subdivision", - "face", - "Microcephaly", - "immune system", - "abnormal craniocervical region", - "paired limb/fin skeleton", - "Abnormal cerebral morphology", - "pectoral complex", + "abnormal appendicular skeleton morphology", + "endochondral element", + "pectoral appendage", + "Deviation of the hand or of fingers of the hand", + "abnormal primary metabolic process", + "Stage 5 chronic kidney disease", + "abnormal musculature of manus", + "mesoderm-derived structure", + "abnormal forelimb morphology", + "abnormal long bone morphology", + "forelimb zeugopod bone hypoplasia", + "anatomical entity hypoplasia in independent continuant", + "abnormality of internal male genitalia physiology", + "organism subdivision", "Abnormality of the musculoskeletal system", - "anterior region of body", - "paired limb/fin segment", - "abnormally decreased number of neutrophil", - "abnormally decreased number of hematopoietic cell", - "forebrain", - "Abnormality of the eye", - "telencephalon", - "obsolete cell", - "occurrent", - "abnormal skeletal system morphology", - "anatomical collection", - "Abnormality of skull size", - "abnormal skull morphology", - "regional part of brain", - "autopod region", - "decreased size of the anatomical entity", - "abnormal camera-type eye morphology", - "musculoskeletal system", + "Limb undergrowth", + "ectoderm-derived structure", + "structure with developmental contribution from neural crest", + "long bone", + "abnormal testis morphology", + "forelimb zeugopod", + "male reproductive organ", + "cellular component organization or biogenesis", "multicellular anatomical structure", - "skull", - "Eukaryota", - "growth", - "limb", - "abnormal nervous system", - "Abnormal axial skeleton morphology", - "eukaryotic cell", - "abnormal growth", - "abnormal autopod region morphology", - "abnormal head", - "erythroid lineage cell", - "abnormal size of anatomical entity", - "abnormal number of anatomical enitites of type platelet", - "abnormal forebrain morphology", - "Growth delay", - "Abnormality of limbs", + "forelimb endochondral element", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "decreased length of anatomical entity in independent continuant", + "skeleton of pectoral complex", + "abnormal anus morphology", + "Abnormality of metabolism/homeostasis", + "musculature of limb", + "negative regulation of biosynthetic process", + "decreased length of forelimb zeugopod bone", + "orifice", + "DNA metabolic process", + "regulation of macromolecule biosynthetic process", + "alimentary part of gastrointestinal system", + "Abnormal reproductive system morphology", + "muscle organ", + "abnormal anatomical entity length", + "musculature of pectoral complex", + "thoracic cavity element", + "multicellular organism", + "absent anatomical entity in the multicellular organism", + "abnormal organelle organization", + "cellular organisms", + "Abnormality of the musculature", + "thoracic segment of trunk", + "abnormal digit", + "programmed DNA elimination", + "digit", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormality of anatomical entity height", + "bone of appendage girdle complex", + "metabolic process", + "multi-limb segment region", + "abnormal cellular process", "root", - "Abnormal neutrophil count", - "abnormal central nervous system morphology", - "abnormal size of skull", - "head", - "abnormally decreased number of granulocyte", - "organ system subdivision", - "Abnormal skull morphology", - "sensory system", - "skeletal system", - "regional part of nervous system", - "Abnormal granulocyte morphology", - "subdivision of skeleton", - "subdivision of skeletal system", - "ectoderm-derived structure", - "appendicular skeletal system", - "Abnormality of the nervous system", - "changed biological_process rate in independent continuant", - "abnormal craniocervical region morphology", - "Abnormality of limb bone", - "Neoplasm by anatomical site", - "craniocervical region", - "abnormally decreased number of myeloid cell in the independent continuant", - "Neoplasm", - "cranial skeletal system", - "abnormal neutrophil", - "Hematological neoplasm", - "Myelodysplasia", - "abnormal anatomical entity morphology", - "abnormal biological_process", - "Abnormal leukocyte morphology", - "abnormal blood cell", - "segment of manus", - "abnormally decreased number of cell in the independent continuant", - "abnormal immune system morphology", - "nucleate cell", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Abnormal cellular phenotype", - "hematopoietic system", - "blood cell", - "postcranial axial skeletal system", - "appendicular skeleton", - "All", - "Eumetazoa", - "leukocyte", - "abnormal manual digit 1 morphology", + "appendage", + "Abnormal upper limb bone morphology", + "abnormality of kidney physiology", + "negative regulation of cellular biosynthetic process", + "Abnormal internal genitalia", + "regulation of cellular process", + "decreased height of the multicellular organism", + "Short long bone", + "male gamete generation", "skeleton", - "mesoderm-derived structure", - "acropodium region", - "Abnormality of the face", - "abnormal leukocyte morphology", - "abnormal hematopoietic system", - "Decreased head circumference", - "specifically dependent continuant", - "multi-limb segment region", - "Localized skin lesion", - "Abnormal immune system morphology", - "abnormal immune system", - "abnormally decreased number of myeloid cell", - "abnormal head morphology", - "visual system", - "motile cell", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "Cafe-au-lait spot", - "abnormal granulocyte morphology", - "hematopoietic cell", - "abnormal number of anatomical enitites of type leukocyte", - "Aplasia/Hypoplasia affecting the eye", - "protein-containing material entity", - "disconnected anatomical group", - "Neutropenia", - "abnormal skeletal system", - "abnormal manual digit morphology in the manus", - "abnormal cell", - "hemolymphoid system", - "abnormal anatomical entity morphology in the brain", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal manus morphology", + "Abnormal external genitalia", + "negative regulation of biological process", + "abnormal growth", + "independent continuant", + "abnormal intestine morphology", + "aplastic manual digit 1", + "reproductive system", + "organic cyclic compound metabolic process", + "segment of autopod", + "anal region", + "paired limb/fin skeleton", + "Growth abnormality", + "abnormal palmar part of manus morphology", + "programmed DNA elimination by chromosome breakage", + "regulation of gene expression", + "Small thenar eminence", + "obsolete cellular nitrogen compound metabolic process", + "organelle organization", + "Abnormal anus morphology", + "protein-DNA complex organization", + "arm", + "abnormal kidney", + "Abnormality of chromosome stability", + "abnormal manus", "phenotype by ontology source", - "integument", - "abnormal number of anatomical enitites of type anatomical entity", - "metabolic process", - "digit", + "Abnormal thumb morphology", + "abnormal reproductive system morphology", "Phenotypic abnormality", - "postcranial axial skeleton", - "Multiple cafe-au-lait spots", - "myeloid cell", - "increased biological_process in independent continuant", - "abnormal number of anatomical enitites of type granulocyte", - "abnormally decreased number of cell", - "neutrophil", - "abnormal orbital region", - "independent continuant", - "Abnormality of blood and blood-forming tissues", - "anatomical structure", - "Abnormal granulocyte count", + "negative regulation of gene expression", + "Abnormality of the digestive system", + "regulation of macromolecule metabolic process", + "acropodium region", + "anatomical entity", + "palmar part of manus", + "Aplasia/hypoplasia involving the skeleton", + "Deviation of finger", + "negative regulation of metabolic process", + "alimentary part of gastrointestinal system atresia", + "cellular component organization", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abdominal segment element", + "abnormal thenar eminence", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "bone of pectoral complex", "entity", - "abnormal limb morphology", - "brain", - "abnormal myeloid leukocyte morphology", - "Abnormal leukocyte count", - "phenotype", + "subdivision of skeletal system", + "biological_process", + "Abnormal forearm bone morphology", "Abnormality of the skeletal system", - "platelet", - "subdivision of organism along main body axis", - "abnormally decreased number of leukocyte", + "terminal part of digestive tract", + "absent anatomical entity in the limb", "continuant", - "aplasia or hypoplasia of telencephalon", - "Abnormality of the immune system", - "limb endochondral element", - "anatomical entity", - "Abnormal platelet count", - "anatomical system", - "Abnormal platelet morphology", - "Irregular hyperpigmentation", - "central nervous system", - "endochondral element", - "Abnormality of neutrophils", - "cell", - "structure with developmental contribution from neural crest", - "Abnormality of skin pigmentation", - "abnormally decreased number of granulocyte in the independent continuant", - "abnormally decreased number of anatomical entity in the independent continuant", - "axial skeleton plus cranial skeleton", - "Abnormal skeletal morphology", - "abnormal skin of body morphology", - "skeletal element", - "Abnormality of the head", - "abnormal anatomical entity", - "axial skeletal system", - "appendage", + "Abnormality of limbs", + "Short stature", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", + "anatomical entity hypoplasia", + "obsolete heterocycle metabolic process", + "non-functional anatomical entity", + "thoracic segment organ", + "aplasia or hypoplasia of radius bone", + "abnormal spatial pattern of anatomical entity", + "protein-containing complex organization", + "material entity", + "abdomen element", + "negative regulation of cellular metabolic process", + "appendicular skeletal system", + "anatomical structure", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "upper limb segment", + "appendicular skeleton", + "subdivision of organism along main body axis", + "abnormal biological_process", + "abnormal cell", + "macromolecule metabolic process", + "appendage girdle complex", + "Abnormal long bone morphology", + "skeleton of limb", + "muscle structure", "material anatomical entity", - "Morphological central nervous system abnormality", - "abnormal number of anatomical enitites of type myeloid cell", - "Metazoa", - "granulocyte", - "multicellular organism", - "abnormal cell morphology", - "Opisthokonta", - "abnormally decreased number of anatomical entity", - "abnormal eyeball of camera-type eye", - "Abnormality of thrombocytes", - "abnormal axial skeleton plus cranial skeleton morphology", - "Abnormal myeloid leukocyte morphology", - "Thrombocytopenia", - "skin of body", - "non-connected functional system", + "external male genitalia", + "chromatin organization", + "pectoral appendage musculature", + "abnormal metabolic process", + "abnormal forelimb zeugopod morphology", + "cellular metabolic process", + "Non-obstructive azoospermia", + "biological regulation", + "regulation of cellular biosynthetic process", + "forelimb zeugopod skeleton", + "abnormal limb morphology", + "regulation of metabolic process", + "Abnormality of limb bone morphology", + "regulation of cellular metabolic process", + "abnormality of renal system physiology", + "quality", + "regulation of biological process", + "changed developmental process rate", + "lateral structure", + "abnormal anatomical entity morphology in the independent continuant", + "limb segment", + "abnormal anatomical entity morphology in the palmar part of manus", + "subdivision of trunk", "abnormal phenotype by ontology source", - "abnormal skin of body", - "abnormal digit", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal myeloid cell morphology", + "absent manual digit", + "abnormal chromatin organization", + "Chromosome breakage", + "Hypoplasia of the radius", + "paired limb/fin", + "decreased size of the anatomical entity in the independent continuant", + "abnormal size of multicellular organism", + "bone element", + "All", + "anatomical collection", + "abnormal programmed DNA elimination by chromosome breakage", + "negative regulation of cellular process", + "decreased qualitatively reproductive process", + "genitourinary system", + "forelimb skeleton", + "Abnormal cellular physiology", + "organic substance metabolic process", + "obsolete nitrogen compound metabolic process", + "abnormal upper urinary tract", + "musculoskeletal system", + "delayed growth", + "abnormal cardiovascular system", + "skeletal system", + "phenotype", + "nucleobase-containing compound metabolic process", + "absent digit", + "decreased length of long bone", + "primary metabolic process", + "skeletal element", + "zeugopod", + "autopodial extension", + "bone element hypoplasia in independent continuant", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "process", + "nucleic acid metabolic process", + "aplasia or hypoplasia of skeleton", + "forelimb", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal large intestine morphology", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "arm bone", + "abnormal rectum morphology", + "abnormal limb long bone morphology", + "manual digit plus metapodial segment", + "abnormal limb bone morphology", + "radius endochondral element", + "Abnormality of digestive system morphology", + "thenar eminence", + "manus", + "abnormal limb", + "compound organ", + "zeugopodial skeleton", + "obsolete cell", + "limb long bone", + "Abnormality of the urinary system", + "forelimb bone", + "abnormal radius bone morphology", + "system", + "aplasia or hypoplasia of manual digit 1", + "Abnormality of the anus", + "organ system subdivision", + "abnormal gamete generation", + "Abnormal morphology of the radius", + "manual digit", + "Abnormal appendicular skeleton morphology", + "decreased size of the anatomical entity", + "Forearm undergrowth", + "palmar/plantar part of autopod", + "external soft tissue zone", + "Abnormality of limb bone", + "abnormal arm", + "absent anatomical entity in the forelimb", + "occurrent", + "organ", + "heart", + "abnormal manual digit morphology in the manus", + "abnormal DNA metabolic process", + "radius bone", + "deviation of anatomical entity", + "multicellular organismal process", + "obsolete cellular aromatic compound metabolic process", + "Aplasia/hypoplasia involving forearm bones", + "forelimb long bone", + "absent sperm in the semen", + "Hydronephrosis", + "decreased length of anatomical entity", + "Abnormality of cardiovascular system morphology", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "limb", + "cell", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "abnormal forelimb zeugopod bone", + "Upper limb undergrowth", + "limb skeleton subdivision", + "trunk region element", + "pectoral complex", + "Opisthokonta", + "paired limb/fin segment", + "Abnormal cellular phenotype", + "decreased size of the radius bone", + "abnormal skeletal system", + "forelimb zeugopod bone", + "subdivision of skeleton", + "endochondral bone", + "Aplasia/Hypoplasia of the radius", + "abnormal anatomical entity", + "Abnormal forearm morphology", + "abnormal external genitalia", + "abnormal size of anatomical entity", + "anatomical system", + "digit 1", + "aplasia or hypoplasia of manual digit", + "organism", + "autopod region", + "skeleton of manus", + "cardiovascular system", + "manual digitopodium region", "abnormal anatomical entity morphology in the manus", - "delayed biological_process", - "bone element", - "abnormal nervous system morphology", - "Abnormality of head or neck", - "abnormal limb bone", - "abnormal brain morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "abnormal anatomical entity morphology in the independent continuant", - "myeloid leukocyte" - ], - "has_phenotype_count": 11, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0014986", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group R", - "full_name": null, - "deprecated": null, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene.", - "xref": ["DOID:0111090", "GARD:16214", "OMIM:617244", "UMLS:C4284093"], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": [ - "FANCR", - "Fanconi Anemia, complementation group R", - "Fanconi Anemia, complementation group type R", - "Fanconi anaemia caused by mutation in RAD51", - "Fanconi anaemia complementation group type R", - "Fanconi anemia caused by mutation in RAD51", - "Fanconi anemia complementation group type R", - "Fanconi anemia, complementation GROUP R", - "RAD51 Fanconi anaemia", - "RAD51 Fanconi anemia" - ], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0001249", - "HP:0000252", - "HP:0009777", - "HP:0000238", - "HP:0001510", - "HP:0006349", - "HP:0000125", - "HP:0005528", - "HP:0006433", - "HP:0000568", - "HP:0007099", - "HP:0001903", - "HP:0003221", - "HP:0031936", - "HP:0002144", - "HP:0002650", - "HP:0002023", - "HP:0003764" - ], - "has_phenotype_label": [ - "Intellectual disability", - "Microcephaly", + "agenesis of anatomical entity", + "Abnormality of the hand", + "abnormal autopod region morphology", + "bone of free limb or fin", "Absent thumb", - "Hydrocephalus", - "Growth delay", - "Agenesis of permanent teeth", - "Pelvic kidney", - "Bone marrow hypocellularity", - "Radial dysplasia", - "Microphthalmia", - "Chiari type I malformation", - "Anemia", - "Chromosomal breakage induced by crosslinking agents", - "Delayed ability to walk", - "Tethered cord", - "Scoliosis", - "Anal atresia", - "Nevus" - ], - "has_phenotype_closure": [ - "UBERON:0002416", - "UPHENO:0003811", - "HP:0000951", - "HP:0011121", - "UPHENO:0076739", - "UBERON:0001245", - "UBERON:0000161", - "HP:0002023", - "HP:0000925", - "UPHENO:0002813", - "UPHENO:0074228", - "UBERON:0001130", - "HP:0010674", - "UBERON:0002240", - "UBERON:0005174", - "HP:0002144", - "UPHENO:0087858", - "HP:0002143", - "HP:0031936", - "GO:0010468", - "GO:0010558", - "GO:0031327", - "GO:0006325", - "GO:0019222", - "GO:0006139", - "GO:1901360", - "GO:0046483", - "GO:0006725", - "HP:0012758", - "GO:0034641", - "HP:0040012", - "UPHENO:0050845", - "HP:0031938", - "UPHENO:0049990", - "GO:0031049", - "GO:0065007", - "GO:0008152", - "GO:0009987", - "UPHENO:0049748", - "UPHENO:0049700", - "HP:0001574", - "GO:0044237", - "GO:0071840", - "HP:0001939", - "UPHENO:0050113", - "UPHENO:0050121", - "GO:0010556", - "GO:0031326", - "GO:0010605", - "GO:0031324", - "GO:0060255", - "GO:0009889", - "GO:0009892", - "GO:0048523", - "GO:0090304", - "GO:0006996", - "GO:0043933", - "HP:0001270", - "GO:0050789", - "GO:0071704", - "GO:0010629", - "UPHENO:0088162", - "UPHENO:0085118", - "UPHENO:0088170", - "CL:0000764", - "UPHENO:0085068", - "CL:0000232", - "CL:0000081", - "UPHENO:0049873", - "HP:0002438", - "UPHENO:0020013", - "UBERON:0004733", - "HP:0011282", - "HP:0011283", - "HP:0007099", - "UPHENO:0076957", - "UPHENO:0072814", - "UPHENO:0071309", - "UBERON:0002028", - "UBERON:0002037", - "HP:0002308", - "UBERON:0000063", - "HP:0001317", - "UBERON:0000019", - "HP:0008056", - "UPHENO:0087924", - "UBERON:0002104", - "UBERON:0004456", - "UPHENO:0080209", - "HP:0000568", - "CL:0002092", - "HP:0000315", - "UBERON:0010712", - "UPHENO:0003020", - "UBERON:0004923", - "UPHENO:0075997", - "UBERON:0002495", - "HP:0006433", - "HP:0011314", - "UBERON:0002553", - "UBERON:0003466", - "UBERON:0010741", - "UPHENO:0081435", - "HP:0003330", - "UBERON:0002386", - "UPHENO:0002844", - "UPHENO:0047419", - "UPHENO:0020041", - "UPHENO:0002751", - "HP:0000164", - "UBERON:0002113", - "UBERON:0015021", - "HP:0002973", - "GO:0048519", - "UBERON:0002090", + "anterior region of body", + "aplastic anatomical entity", + "Aplasia/hypoplasia involving bones of the extremities", + "manual digit 1", + "protein-containing material entity", + "abnormal skeletal system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "cellular process", + "Abnormal digit morphology", + "absent anatomical entity", + "Short thumb", + "abnormal manual digit 1 morphology", + "digit 1 plus metapodial segment", + "abnormal digit morphology", + "digit plus metapodial segment", + "Abnormal finger morphology", + "abnormal male reproductive organ morphology", + "autopodial skeleton", + "Finger aplasia", + "manual digit 1 plus metapodial segment", + "Neoplasm", + "manual digit 1 or 5", + "pectoral appendage skeleton", + "abnormal manus morphology", + "primary circulatory organ", + "digit 1 or 5", + "Aplasia/Hypoplasia of the thumb", + "regulation of biosynthetic process", + "absent anatomical entity in the independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Abnormal spermatogenesis", + "Abnormal hand morphology", + "decreased spermatogenesis", + "abnormal kidney morphology", + "main body axis" + ], + "has_phenotype_count": 15, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0010351", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group B", + "full_name": null, + "deprecated": null, + "description": "Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.", + "xref": [ + "DOID:0111098", + "GARD:15257", + "MESH:C564497", + "NCIT:C125703", + "OMIM:300514", + "UMLS:C1845292" + ], + "provided_by": "phenio_nodes", + "in_taxon": null, + "in_taxon_label": null, + "symbol": null, + "synonym": [ + "FA2", + "FACB", + "FANCB", + "Fanconi Anemia, complementation group type B", + "Fanconi anaemia complementation group type B", + "Fanconi anemia complementation group B", + "Fanconi anemia complementation group type B", + "Fanconi anemia, complementation group B", + "Fanconi anemia, complementation group B, X-linked recessive", + "Fanconi pancytopenia type 2", + "Fanconi pancytopenia, type 2" + ], + "uri": null, + "iri": null, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0000470", + "HP:0009777", + "HP:0002575", + "HP:0001249", + "HP:0000238", + "HP:0000369", + "HP:0002101", + "HP:0000815", + "HP:0002247", + "HP:0001510", + "HP:0007766", + "HP:0002119", + "HP:0000104", + "HP:0001873", + "HP:0001915", + "HP:0001680", + "HP:0002032", + "HP:0003220", + "HP:0001321", + "HP:0002079", + "HP:0000054", + "HP:0000396", + "HP:0003468", + "HP:0000135", + "HP:0004977", + "HP:0001643", + "HP:0001629", + "HP:0001195", + "HP:0002188", + "HP:0001511" + ], + "has_phenotype_label": [ + "Short neck", + "Absent thumb", + "Tracheoesophageal fistula", + "Intellectual disability", + "Hydrocephalus", + "Low-set ears", + "Abnormal lung lobation", + "Hypergonadotropic hypogonadism", + "Duodenal atresia", + "Growth delay", + "Optic disc hypoplasia", + "Ventriculomegaly", + "Renal agenesis", + "Thrombocytopenia", + "Aplastic anemia", + "Coarctation of aorta", + "Esophageal atresia", + "Abnormality of chromosome stability", + "Cerebellar hypoplasia", + "Hypoplasia of the corpus callosum", + "Micropenis", + "Overfolded helix", + "Abnormal vertebral morphology", + "Hypogonadism", + "Bilateral radial aplasia", + "Patent ductus arteriosus", + "Ventricular septal defect", + "Single umbilical artery", + "Delayed CNS myelination", + "Intrauterine growth retardation" + ], + "has_phenotype_closure": [ + "UPHENO:0052778", + "GO:0009790", + "UPHENO:0005433", + "UPHENO:0080393", + "UPHENO:0081436", + "UPHENO:0052178", + "UPHENO:0005642", + "UPHENO:0080382", + "GO:0048709", + "GO:0014003", + "UPHENO:0061854", + "GO:0007399", + "GO:0042552", + "GO:0032291", + "GO:0022008", + "GO:0010001", + "UPHENO:0050121", + "UPHENO:0083951", + "UPHENO:0000553", + "HP:0012447", + "UPHENO:0084012", + "GO:0048468", + "HP:0012448", + "UPHENO:0084007", + "GO:0009987", + "UPHENO:0000552", + "UPHENO:0059829", + "HP:0011425", + "HP:0001195", + "GO:0008366", + "UBERON:0000478", + "UBERON:0000323", + "HP:0011403", + "UBERON:0002331", + "UBERON:0000922", + "HP:0010881", + "HP:0010948", + "UPHENO:0075872", + "HP:0034058", + "HP:0001671", + "UBERON:0002094", + "UBERON:0002099", + "UPHENO:0015282", + "UPHENO:0019888", + "UPHENO:0075655", + "HP:0011603", + "UPHENO:0033603", + "UBERON:0011695", + "UPHENO:0076810", + "UPHENO:0086797", + "UBERON:0018674", + "HP:0001627", + "UPHENO:0087309", + "UBERON:0004716", + "UPHENO:0015290", + "UPHENO:0015324", + "UBERON:0006876", + "UBERON:0002201", + "HP:0001194", + "UBERON:0003498", "HP:0040070", - "UPHENO:0050116", - "UBERON:0010323", - "UPHENO:0000543", - "UBERON:0002471", "UPHENO:0076718", + "HP:0006501", + "UBERON:0010741", + "UPHENO:0026023", + "UBERON:0003460", + "UBERON:0003607", + "UBERON:0001423", + "HP:0009825", + "HP:0003974", + "UBERON:0002082", "UPHENO:0087501", - "UBERON:0002193", - "UPHENO:0084928", - "UPHENO:0087355", - "HP:0025354", - "UPHENO:0056333", - "UPHENO:0004459", - "UBERON:0015203", - "HP:0005561", - "UBERON:0002405", - "HP:0000077", - "UPHENO:0080114", - "UBERON:0001474", - "UBERON:0002371", - "HP:0002715", - "HP:0020047", - "UPHENO:0086172", - "UPHENO:0081755", - "UPHENO:0053580", - "HP:0001903", - "UBERON:0007774", - "UPHENO:0076779", - "RO:0002577", - "HP:0000079", - "UBERON:0013701", - "UBERON:0011143", - "UBERON:0006717", - "UPHENO:0011564", - "HP:0000086", - "UPHENO:0002832", - "HP:0012210", - "UBERON:0004122", - "UBERON:8450002", - "UBERON:0001359", - "UPHENO:0087427", - "UPHENO:0022529", - "UPHENO:0049367", - "UPHENO:0068971", - "UBERON:0003103", - "UBERON:0000489", - "UBERON:0005173", + "UPHENO:0062515", "UPHENO:0079872", - "UBERON:0002417", - "HP:0012759", - "HP:0002818", - "UBERON:0000916", - "HP:0000119", - "UBERON:0000033", - "UBERON:0000466", - "UPHENO:0069523", - "HP:0002664", - "HP:0011044", - "HP:0031816", - "UBERON:0001091", - "UPHENO:0081526", - "UPHENO:0076800", - "HP:0001507", - "HP:0001871", - "UBERON:0000025", - "UPHENO:0063722", - "UBERON:0000167", - "UPHENO:0075219", - "BFO:0000141", + "UPHENO:0009341", + "HP:0004977", + "HP:0009822", + "UPHENO:0086956", + "HP:0009823", + "UBERON:0005440", + "UBERON:0002386", + "UPHENO:0076695", + "UPHENO:0076744", + "HP:0003468", + "UPHENO:0062527", + "UPHENO:0086301", + "HP:0000396", + "UBERON:0002488", + "UBERON:0001757", + "HP:0008544", + "HP:0003953", + "UPHENO:0041058", + "UPHENO:0082480", + "UPHENO:0083647", + "UPHENO:0041149", + "UBERON:0008811", + "GO:0042063", + "HP:0000036", + "HP:0000032", + "HP:0008736", + "UBERON:0007100", + "UPHENO:0005016", + "UBERON:0003135", + "UBERON:0000989", + "UPHENO:0087547", + "UBERON:0003101", + "HP:0012243", + "UPHENO:0050406", + "HP:0000811", + "HP:0000050", + "HP:0000054", + "UPHENO:0087802", + "UPHENO:0087531", + "HP:0012430", + "HP:0033725", + "UBERON:0019261", + "UPHENO:0087518", + "UPHENO:0033604", + "UBERON:0002316", + "UBERON:0001890", + "UBERON:0001893", + "UPHENO:0020888", + "UPHENO:0080200", + "HP:0002079", + "HP:0002500", + "UBERON:0000454", + "UBERON:0002471", + "UBERON:0001869", + "UPHENO:0087032", + "HP:0012429", + "UBERON:0007702", + "UBERON:0001020", + "UPHENO:0087902", + "UPHENO:0081381", + "UPHENO:0087750", + "UPHENO:0087415", + "UPHENO:0076807", + "UBERON:0005340", + "HP:0001273", + "UPHENO:0069144", + "UPHENO:0020013", "UPHENO:0081601", - "UPHENO:0002828", - "UPHENO:0035025", - "GO:0044238", - "GO:0006807", - "UBERON:0003672", - "UPHENO:0063565", - "HP:0011793", - "UPHENO:0076786", - "GO:0050794", - "HP:0000153", - "UPHENO:0002826", - "UBERON:0001456", - "UBERON:0004921", - "UPHENO:0002635", - "UPHENO:0026506", - "UBERON:0001555", - "UBERON:0003913", - "UBERON:0001007", - "UBERON:0001032", - "UBERON:0010707", + "UBERON:0002028", + "UBERON:0001895", + "UPHENO:0080089", + "GO:0007417", + "UBERON:0004176", + "UBERON:0004733", + "UBERON:0004732", + "UPHENO:0081099", + "UPHENO:0076720", + "HP:0007360", + "HP:0011283", + "HP:0001321", + "HP:0001939", + "GO:0005623", + "HP:0003220", + "UPHENO:0080204", + "GO:0008152", + "UPHENO:0063603", + "HP:0030680", + "GO:0048869", + "HP:0100547", + "UBERON:0003519", + "UBERON:0000477", + "HP:0001680", + "UPHENO:0076809", + "HP:0002597", + "UPHENO:0002678", + "UBERON:0001009", + "UPHENO:0077854", + "HP:0001626", + "HP:0030962", + "HP:0001679", + "GO:0007272", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0004535", + "UBERON:0004572", + "UBERON:0007798", + "UBERON:0004145", + "UPHENO:0076729", + "HP:0001881", + "UPHENO:0087643", + "UPHENO:0002948", + "UPHENO:0050034", + "CL:0001035", + "UPHENO:0050372", + "CL:0000255", + "UBERON:0003606", + "UBERON:0002405", + "UPHENO:0087123", + "HP:0012145", + "HP:0012638", + "HP:0001249", + "UBERON:0015061", "UPHENO:0002833", - "UPHENO:0086633", - "UPHENO:0087510", + "GO:0050877", + "UBERON:0010230", + "UPHENO:0026506", + "UPHENO:0087334", + "UBERON:0005177", + "UPHENO:0041116", "GO:0008150", - "UBERON:0015061", - "UPHENO:0011589", - "CL:0000329", - "UBERON:0013522", - "UBERON:0003129", - "UBERON:0000165", - "GO:0040007", - "HP:0033127", - "UPHENO:0087349", - "HP:0011355", - "HP:0001510", - "UBERON:0000153", - "UPHENO:0084761", - "UBERON:0006314", - "UPHENO:0014240", - "UBERON:0003947", - "HP:0002921", - "UBERON:0012139", - "UPHENO:0081598", - "UPHENO:0056072", - "UPHENO:0088185", - "UBERON:0005281", - "HP:0003764", - "UBERON:0005358", - "UBERON:0011584", - "UPHENO:0076702", - "UBERON:0007779", - "UBERON:0004732", - "UPHENO:0075220", + "UBERON:0002371", + "UPHENO:0075997", + "UBERON:0034925", + "UBERON:0005181", + "UBERON:0003126", + "UBERON:0005409", + "HP:0025031", + "UPHENO:0076785", "UPHENO:0000541", - "UPHENO:0087339", - "UPHENO:0078606", - "UPHENO:0002896", - "HP:0000238", - "UPHENO:0001003", + "UBERON:0001456", + "UBERON:0003103", + "UBERON:0006077", + "UBERON:0011215", + "UPHENO:0004536", + "CL:0000000", + "HP:0011793", + "CL:0000329", + "UBERON:0001474", + "HP:0010993", + "UPHENO:0076735", "UBERON:0000463", - 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"UBERON:0001062", - "HP:0009804", - "UBERON:0004375", + "GO:0050890", + "UPHENO:0087614", + "NCBITaxon:1", + "HP:0008056", + "HP:0007766", + "UPHENO:0087596", + "UBERON:0019294", + "UPHENO:0076791", + "GO:0030324", + "UPHENO:0075183", + "UBERON:0001783", + "UPHENO:0085984", + "UBERON:0002336", "HP:0025033", - "HP:0000707", - "UPHENO:0002880", - "UBERON:0000467", + "UBERON:0000966", + "UPHENO:0087355", + "UPHENO:0088186", + "UBERON:0005162", + "UPHENO:0075949", + "UBERON:0000941", + "UPHENO:0003058", + "UBERON:0000025", + "UBERON:0004088", + "HP:0025015", + "UBERON:0000970", + "NCBITaxon:33154", + "HP:0011400", "HP:0002060", - "UPHENO:0076723", - "UPHENO:0002839", - "UBERON:0009569", - "UBERON:0002101", - "HP:0005528", - "BFO:0000040", - "UPHENO:0001005", + "HP:0012372", + "UPHENO:0087472", + "HP:0011039", + "UPHENO:0069298", + "UPHENO:0085195", + "UPHENO:0063629", + "UBERON:0034713", + "OBI:0100026", + "UPHENO:0001072", + "HP:0001713", + "UBERON:0001043", + "UBERON:0002048", + "UBERON:0010913", + "UPHENO:0081786", + "UPHENO:0021803", + "UPHENO:0076776", + "NCBITaxon:6072", + "HP:0001098", + "UBERON:0005388", + "HP:0000271", + "UPHENO:0001440", + "UPHENO:0026980", + "UPHENO:0008593", + "UPHENO:0081320", + "UBERON:0001008", + "UPHENO:0015280", + "UPHENO:0075902", + "UBERON:0001981", + "UPHENO:0082875", + "HP:0000104", + "UBERON:0000055", + "UBERON:0000489", + "UPHENO:0002934", + "UPHENO:0002803", + "UBERON:0005172", + "UPHENO:0083952", + "UBERON:8450002", + "UBERON:0000916", + "UBERON:0005173", + "GO:0030154", + "UBERON:0002113", + "UPHENO:0085118", + "UBERON:0015410", + "UBERON:0001690", + "UPHENO:0086173", + "UBERON:0001637", + "UBERON:0002037", + "UPHENO:0077426", + "CL:0000457", + "UBERON:0004537", + "UBERON:0000064", + "CL:0000081", + "UBERON:0003951", "CL:0000763", - "HP:0000163", - "HP:0002817", - "UBERON:0001137", - "UBERON:0034925", - "UBERON:0007811", - "HP:0012638", - "UBERON:0010000", - "HP:0003220", - "UBERON:0000026", - "UPHENO:0001002", - "HP:0001249" + "UPHENO:0085371", + "UBERON:0000079", + "UBERON:0005970", + "HP:0001871", + "UPHENO:0084761", + "HP:0001872", + "UBERON:0004375", + "HP:0011873", + "CL:0000232", + "UPHENO:0081095", + "UBERON:0010314", + "HP:0001873", + "UBERON:0001018", + "CL:0000458", + "HP:0020047", + "UPHENO:0081466", + "UPHENO:0002903", + "UPHENO:0081783", + "CL:0002092", + "HP:0025354", + "UBERON:0003037", + "CL:0000151", + "UBERON:0002413", + "CL:0000988", + "UPHENO:0086854", + "UBERON:0002100", + "UPHENO:0076675", + "UPHENO:0063565", + "UPHENO:0026028", + "UPHENO:0084928", + "UPHENO:0085302", + "UPHENO:0087339", + "HP:0010987", + "HP:0005561", + "HP:0011893" ], "has_phenotype_closure_label": [ - "integument", - "integumental system", - "abnormal integument", - "abnormal skin of body morphology", - "Localized skin lesion", - "abnormal anus morphology", - "anatomical entity atresia", - "anus", - "Abnormality of the anus", - "Abnormal anus morphology", - "Abnormality of the vertebral column", - "abnormal vertebral column", - "vertebral column", - "Abnormal curvature of the vertebral column", - "Scoliosis", - "dorsal region element", - "Abnormal spinal cord morphology", - "Tethered cord", - "dorsum", - "spinal cord", - "Delayed gross motor development", - "abnormal spinal cord morphology", - "abnormal metabolic process", - "biological regulation", - "metabolic process", - "cellular process", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "Chromosomal breakage induced by crosslinking agents", - "primary metabolic process", - "obsolete nitrogen compound metabolic process", - "regulation of cellular process", - "regulation of metabolic process", - "negative regulation of biological process", - "nucleobase-containing compound metabolic process", - "organic cyclic compound metabolic process", - "obsolete heterocycle metabolic process", - "obsolete cellular nitrogen compound metabolic process", - "cellular component organization", - "regulation of biosynthetic process", - "regulation of cellular metabolic process", - "negative regulation of cellular process", - "organelle organization", - "protein-containing complex organization", - "abnormal cellular process", - "regulation of gene expression", - "negative regulation of macromolecule biosynthetic process", - "programmed DNA elimination", - "obsolete cell", - "regulation of cellular biosynthetic process", - "negative regulation of biosynthetic process", - "negative regulation of macromolecule metabolic process", - "negative regulation of cellular metabolic process", - "DNA metabolic process", - "myeloid cell", - "oxygen accumulating cell", - "blood cell", - "erythroid lineage cell", - "Anemia", - "abnormal erythroid lineage cell morphology", - "abnormal myeloid cell morphology", - "nucleic acid metabolic process", - "Abnormal erythrocyte morphology", - "abnormal erythrocyte morphology", - "Abnormal metencephalon morphology", - "abnormally formed cerebellum", - "Abnormal hindbrain morphology", - "hindbrain", - "organic substance metabolic process", - "cerebellum", - "metencephalon", - "Chiari type I malformation", - "Abnormal cerebellum morphology", - "abnormal cerebellum morphology", - "abnormally formed anatomical entity in independent continuant", - "segmental subdivision of hindbrain", - "Abnormality of the skin", - "abnormal metencephalon morphology", - "abnormal hindbrain morphology", - "visual system", - "chromatin organization", - "sensory system", - "eye", - "orbital region", - "Neurodevelopmental delay", - "decreased size of the anatomical entity in the independent continuant", - "entire sense organ system", - "Abnormal cellular phenotype", - "Abnormality of the orbital region", - "abnormal eyeball of camera-type eye", - "eyeball of camera-type eye", - "camera-type eye", - "appendage girdle complex", - "decreased size of the eyeball of camera-type eye", - "anatomical conduit", - "Abnormality of globe size", - "forelimb endochondral element", - "abnormal forelimb zeugopod morphology", + "decreased developmental process", + "decreased qualitatively developmental process", + "abnormal embryo development", + "changed biological_process rate", + "Intrauterine growth retardation", + "changed embryo development rate", + "Delayed CNS myelination", + "abnormal biological_process in nervous system", + "gliogenesis", + "oligodendrocyte differentiation", + "oligodendrocyte development", + "neurogenesis", + "glial cell differentiation", + "ensheathment of neurons", + "cellular developmental process", + "abnormal myelination in independent continuant", + "abnormal central nervous system myelination in independent continuant", + "delayed central nervous system myelination", + "Delayed myelination", + "Abnormal CNS myelination", + "axon ensheathment", + "abnormal axon ensheathment in central nervous system in independent continuant", + "Abnormality of prenatal development or birth", + "decreased embryo development", + "abnormal umbilical blood vessel morphology", + "entire extraembryonic component", + "Abnormality of the umbilical cord", + "Abnormal fetal cardiovascular morphology", + "extraembryonic structure", + "abnormal late embryo", + "Fetal anomaly", + "Abnormal cardiac ventricle morphology", + "interventricular septum", + "abnormal interventricular septum morphology", + "abnormal incomplete closing of the interventricular septum", + "abnormal cardiac ventricle morphology in the independent continuant", + "conceptus", + "abnormal biological_process in central nervous system", + "primary circulatory organ", + "abnormal anatomical entity morphology in the heart", + "heart vasculature", + "thoracic segment blood vessel", + "artery", + "Congenital malformation of the great arteries", + "circulatory organ", + "trunk blood vessel", + "abnormal artery morphology in the independent continuant", + "coronary vessel", + "abnormal incomplete closing of the ductus arteriosus", + "abnormal systemic artery morphology", + "systemic artery", + "vasculature of organ", + "heart plus pericardium", + "vasculature of trunk", + "Aplasia/Hypoplasia of the radius", + "abnormal forelimb zeugopod bone", + "absent radius bone in the forelimb", + "Abnormalities of placenta or umbilical cord", + "forelimb long bone", + "aplastic forelimb zeugopod bone", + "Abnormal morphology of the radius", + "umbilical blood vessel", + "abnormal heart morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "embryo development", + "abnormal cardiac ventricle morphology in the heart", "abnormal radius bone morphology", - "abnormal bone of pectoral complex morphology", - "dysgenesis of the radius bone", + "Aplasia involving forearm bones", + "Aplasia involving bones of the extremities", "limb long bone", - "bone of free limb or fin", - "Abnormal morphology of the radius", - "arm bone", - "radius bone", - "Radial dysplasia", - "long bone", - "abnormally decreased number of anatomical entity", - "Abnormal forearm morphology", + "radius endochondral element", + "abnormal forelimb zeugopod morphology", + "delayed biological_process in central nervous system", + "Abnormal forearm bone morphology", + "abnormal bone of pectoral complex morphology", + "absent radius bone", + "absent forelimb zeugopod bone", + "Aplasia involving bones of the upper limbs", + "forelimb zeugopod skeleton", + "Abnormal vertebral morphology", + "Abnormal helix morphology", + "folded anatomical entity in independent continuant", + "folded anatomical entity", + "Abnormally folded helix", + "pinna", + "abnormal helix of outer ear morphology", + "surface feature shape anatomical entity", + "abnormal penis morphology", + "abnormal male reproductive system morphology", + "Abnormality of male external genitalia", + "External genital hypoplasia", + "Abnormal penis morphology", + "external male genitalia", + "intromittent organ", + "Abnormal external genitalia", + "decreased size of the penis", + "abnormal male reproductive system", + "abnormal vertebral column morphology", + "abnormal external male genitalia morphology", + "abnormal penis", + "male reproductive system", + "abnormal reproductive system morphology", + "decreased size of the external male genitalia", + "abnormal cerebral hemisphere morphology", + "white matter of telencephalon", + "abnormal cerebral hemisphere white matter morphology", + "white matter", + "telencephalon", + "abnormal size of corpus callosum", "abnormal forebrain morphology", - "hematopoietic system", - "abnormally localised anatomical entity", - "non-connected functional system", - "system process", - "Neoplasm", - "abnormal bone marrow cell", - "abnormal nitrogen compound metabolic process", - "abnormal immune system", - "hemolymphoid system", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", - "abnormal bone marrow cell morphology", - "phenotype", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormality of bone marrow cell morphology", - "disconnected anatomical group", + "folded helix of outer ear", + "forebrain", + "white matter of forebrain", + "brain commissure", + "corpus callosum hypoplasia", + "decreased size of the corpus callosum", + "cerebral subcortex", + "Abnormal cerebral subcortex morphology", + "aplasia or hypoplasia of telencephalon", + "Hypoplasia of the corpus callosum", + "Abnormal ventricular septum morphology", + "Abnormal cerebral white matter morphology", + "Abnormal cerebral morphology", + "cellular process", + "cerebral hemisphere white matter", + "intercerebral commissure", + "nervous system commissure", + "Cerebral white matter hypoplasia", + "nervous system development", + "Thin corpus callosum", + "corpus callosum", + "abnormal cerebellum morphology", + "segmental subdivision of nervous system", + "external genitalia", + "cerebellum", + "metencephalon", + "delayed myelination", + "abnormal hindbrain morphology", + "Abnormal metencephalon morphology", + "cerebellum hypoplasia", + "regional part of nervous system", + "forelimb zeugopod", + "Aplasia/Hypoplasia of the cerebellum", + "Cerebellar hypoplasia", + "Abnormality of metabolism/homeostasis", + "absent anatomical entity in the skeletal system", + "Abnormal cellular physiology", + "metabolic process", + "abnormal vertebra morphology", + "Esophageal atresia", + "esophagus atresia", + "Abnormal blood vessel morphology", + "Abnormality of the vasculature", + "Abnormality of cardiovascular system morphology", + "aortic system", + "cardiovascular system", + "Coarctation of aorta", + "blood vasculature", + "arterial system", + "outflow tract", + "blood vessel", + "abnormal great vessel of heart morphology", + "Abnormal morphology of the great vessels", + "Abnormality of the cardiovascular system", + "aorta", + "Bilateral radial aplasia", + "abnormal metencephalon morphology", + "abnormal cardiovascular system morphology", + "abnormal aorta morphology", + "thoracic cavity blood vessel", + "helix of outer ear", + "arterial blood vessel", + "Abnormal aortic morphology", + "Abnormal reproductive system morphology", + "abnormal cardiovascular system", + "Aplastic anemia", + "Abnormal immune system morphology", + "Abnormal cellular immune system morphology", + "erythroid lineage cell", "tissue", - "Abnormality of the immune system", - "phenotype by ontology source", - "cell", - "limb bone", - "abnormal cell morphology", - "macromolecule metabolic process", - "bone of pectoral complex", - "abnormal upper urinary tract", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "abnormal myelination", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "Abnormality of mental function", + "abnormality of nervous system physiology", + "forelimb zeugopod bone", + "nervous system", "renal system", - "cavitated compound organ", - "anus atresia", - "abdomen", - "excretory system", - "Abnormality of the genitourinary system", - "Abnormality of limbs", - "Abnormal renal morphology", - "Growth abnormality", - "abnormal renal system morphology", - "subdivision of trunk", - "abdomen element", - "pectoral complex", - "trunk region element", - "Abnormal nervous system morphology", - "forelimb zeugopod", - "Abnormal conus terminalis morphology", - "Abnormality of head or neck", - "Abnormal eye morphology", - "abnormal kidney morphology", - "aplastic secondary dentition", - "Abnormality of skin morphology", - "brain ventricle/choroid plexus", - "abnormal number of anatomical enitites of type secondary dentition", - "bone marrow", - "tooth-like structure", - "digestive system", - "subdivision of head", - "abnormal location of anatomical entity", - "oral cavity", - "anatomical space", - "abnormal digestive system", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "biological_process", + "Abnormal optic nerve morphology", + "nervous system process", + "system process", "subdivision of digestive tract", - "abnormal digestive system morphology", - "digestive tract", - "Abnormality of digestive system morphology", - "abnormal oral cavity morphology", - "abnormal mouth", - "simple eye", - "abnormally decreased number of anatomical entity in the independent continuant", - "quality", - "forelimb zeugopod bone", - "Agenesis of permanent teeth", + "delayed biological_process", + "Single umbilical artery", + "developing anatomical structure", + "Abnormal location of ears", + "thoracic cavity element", + "Abnormal systemic arterial morphology", + "hematopoietic system", + "respiratory airway", + "nucleate cell", + "abnormal cerebral subcortex morphology", + "respiratory tube", + "abnormal nervous system", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "endoderm-derived structure", + "trunk region element", + "pectoral complex", + "proximo-distal subdivision of respiratory tract", + "anatomical structure morphogenesis", "Abnormality of the digestive system", - "mouth", - "tube", - "autopodial extension", - "Abnormal oral morphology", - "abnormal mouth morphology", - "abnormal size of eyeball of camera-type eye", - "aplastic anatomical entity", - "abnormal face", - "Abnormality of the upper urinary tract", - "abnormal dentition", - "growth", - "abnormal face morphology", - "forelimb zeugopod skeleton", - "abnormal growth", - "Pelvic kidney", - "Abnormal localization of kidney", - "Abnormal erythroid lineage cell morphology", - "transudate", - "skeletal system", - "upper urinary tract", - "abnormally increased number of brain ventricle in the independent continuant", - "trunk", - "digit 1 plus metapodial segment", - "anatomical wall", - "abnormal anatomical entity morphology in the pectoral complex", - "bodily fluid", - "autopod region", + "Abnormal esophagus morphology", + "Abnormality of the vertebral column", + "retina", + "thoracic segment of trunk", + "abnormal digit", + "Abnormality of the respiratory system", + "Abnormal tracheobronchial morphology", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "abnormal esophagus morphology", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "mesoderm-derived structure", + "abnormality of respiratory system physiology", + "Micropenis", + "Metazoa", + "Abnormal hand morphology", + "abnormal limb", + "manus", + "abnormal male reproductive organ morphology", + "occurrent", + "organ", + "appendicular skeleton", + "Abnormal cerebellum morphology", + "upper limb segment", + "limb skeleton subdivision", + "cell differentiation", + "appendicular skeletal system", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", + "axon ensheathment in central nervous system", "compound organ", - "abnormal brain ventricle morphology", - "cerebrospinal fluid", - "Abnormal cerebrospinal fluid morphology", - "zeugopodial skeleton", - "ventricle of nervous system", - "brain ventricle", - "Aplasia/Hypoplasia involving the central nervous system", - "organism substance", - "specifically dependent continuant", - "Hydrocephalus", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "Abnormal forearm bone morphology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "calcareous tooth", - "ventricular system of central nervous system", - "abnormal forelimb zeugopod bone", - "kidney", - "negative regulation of gene expression", - "ventricular system of brain", - "Abnormal cerebral ventricle morphology", - "abnormally increased number of anatomical entity in the independent continuant", - "abnormal kidney", - "abnormal brain ventricle/choroid plexus morphology", - "abnormal DNA metabolic process", - "abnormal chromatin organization", + "eye", + "absent anatomical entity in the renal system", + "cell", + "absent anatomical entity in the independent continuant", + "Aplasia/Hypoplasia of the thumb", + "abnormal size of brain ventricle", + "bone cell", + "arm", + "head", + "abnormal manus morphology", + "manual digit", + "Abnormal eye morphology", + "Abnormal appendicular skeleton morphology", + "abnormal number of anatomical enitites of type leukocyte", + "Abnormal retinal morphology", + "Finger aplasia", + "absent kidney in the renal system", + "bone of appendage girdle complex", + "anatomical wall", + "genitourinary system", + "digestive tract", + "vessel", + "lateral structure", + "abnormal limb bone morphology", + "abnormal shape of external ear", + "Aplasia/hypoplasia involving bones of the hand", + "decreased size of the optic disc", + "Abnormal vascular morphology", + "abnormal arm", + "Abnormality of digestive system morphology", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormal forebrain morphology", "forelimb", - "Microphthalmia", - "malformed anatomical entity", + "abnormal digestive system", + "Abnormality of the cervical spine", + "Abnormal skeletal morphology", + "umbilical cord", "autopodial skeleton", - "Motor delay", - "abnormal anatomical entity", - "paired limb/fin", - "abnormal limb long bone morphology", - "regulation of macromolecule metabolic process", - "continuant", + "aplasia or hypoplasia of skeleton", + "cardiac ventricle", + "abnormal craniocervical region", + "Abnormal ear morphology", + "abnormal autopod region morphology", + "Absent thumb", + "Low-set ears", + "abnormal ear", + "penis hypoplasia", + "limb endochondral element", + "paired limb/fin skeleton", + "postcranial axial skeletal system", + "lung lobe formation", + "Neurodevelopmental abnormality", + "subdivision of organism along appendicular axis", + "multicellular organism development", + "reproductive system", "aplastic manual digit 1", - "Abnormal appendicular skeleton morphology", - "delayed biological_process", - "abnormal anatomical entity morphology in the manus", - "abnormal hematopoietic system morphology", - "Abnormal number of teeth", + "abnormal cervical vertebra", + "Abnormal fetal morphology", + "commissure of telencephalon", + "abnormal intestine morphology", + "independent continuant", + "abnormal leukocyte morphology", + "radius bone", + "Abnormality of the hand", + "embryonic cardiovascular system", + "organism subdivision", + "segmental subdivision of hindbrain", + "digit 1 or 5", + "Abnormal myeloid cell morphology", "Aplasia/hypoplasia involving the skeleton", - "pectoral appendage", - "mesoderm-derived structure", - "cellular component organization or biogenesis", - "Phenotypic abnormality", - "Abnormality of the face", - "abnormal digit morphology", - "orifice", - "abnormal orbital region", - "bone marrow cell", - "abnormal manus", - "abnormal anatomical entity morphology in the independent continuant", - "segment of manus", - "manual digit 1", - "multi-limb segment region", - "immune system", - "face", - "Microcephaly", - "abnormal craniocervical region", - "limb skeleton subdivision", - "manual digit plus metapodial segment", + "optic disc hypoplasia", + "decreased qualitatively biological_process", + "anatomical entity", + "long bone", + "material entity", + "abnormal respiratory system morphology", + "vertebral element", + "viscus", + "vertebral column", + "Abnormal cardiac septum morphology", + "subdivision of skeleton", + "endochondral bone", + "cervical vertebra", + "Abnormality of limbs", + "Abnormality of limb bone morphology", + "Hypoplasia of penis", + "animal organ development", + "abnormal anatomical entity morphology", + "Abnormality of head or neck", + "skeletal element", + "thoracic segment organ", + "anatomical collection", + "decreased size of the anatomical entity in the independent continuant", + "Aplasia/Hypoplasia of the optic nerve", + "abnormal cellular process", + "secretory cell", + "bone element", + "abnormal platelet", + "Aplasia/hypoplasia involving bones of the extremities", "abnormal immune system morphology", - "radius endochondral element", - "Abnormal number of permanent teeth", - "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "abnormal cellular metabolic process", - "acropodium region", - "abnormally decreased number of calcareous tooth", - "Abnormality of the dentition", + "Cognitive impairment", + "abnormal central nervous system myelination", + "organ subunit", + "obsolete cell", + "digestive system", + "abnormal optic disc morphology", + "paired limb/fin", + "Morphological abnormality of the gastrointestinal tract", + "appendage", + "root", + "Aplasia/Hypoplasia of fingers", + "delayed biological_process in independent continuant", + "digitopodium region", + "abnormal anatomical entity", + "Phenotypic abnormality", + "abnormal anatomical entity morphology in the retina", + "bone of pectoral complex", + "decreased length of anatomical entity", + "zeugopodial skeleton", + "abnormal cerebrospinal fluid morphology", + "entity", + "abnormal anatomical entity morphology in the manus", "skeleton", - "Absent thumb", - "Abnormality of skull size", - "Abnormal digit morphology", - "aplasia or hypoplasia of manual digit", - "absent anatomical entity in the limb", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "Abnormality of the upper limb", - "abnormal telencephalon morphology", - "Bone marrow hypocellularity", - "Abnormality of the nervous system", - "abnormal cellular component organization", - "appendicular skeletal system", - "Eukaryota", - "forebrain", - "Abnormality of the integument", - "paired limb/fin segment", - "nervous system", - "skeleton of limb", - "Abnormal oral cavity morphology", - "regulation of biological process", - "Abnormal thumb morphology", - "Eumetazoa", - "segment of autopod", - "abnormal appendicular skeleton morphology", - "manual digit 1 or 5", - "abnormal anus", + "abnormal limb morphology", + "anatomical conduit", + "heart", + "Abnormality of the head", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "absent anatomical entity in the forelimb", + "multicellular anatomical structure", + "Abnormality of the gastrointestinal tract", + "absent digit", + "glial cell development", + "Abnormal hindbrain morphology", + "phenotype", "Abnormal cell morphology", - "organ component layer", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal forebrain morphology", - "manus", - "system", - "subdivision of organism along main body axis", - "Aplasia/Hypoplasia of the thumb", - "Abnormality of the hand", - "bone cell", - "digit 1", - "regional part of nervous system", - "abnormal head", - "abnormal autopod region morphology", - "digit", - "Abnormality of the skeletal system", - "abdominal segment of trunk", - "abnormal limb", - "Delayed ability to walk", - "regional part of brain", - "Intellectual disability", - "digit 1 or 5", + "musculoskeletal system", + "Abnormality of the eye", + "axon tract", + "abnormal upper urinary tract", + "Abnormality of the neck", + "manual digit 1", + "autopodial extension", + "abnormal face", + "abnormal alimentary part of gastrointestinal system", + "organ system subdivision", + "embryo", + "abnormal blood cell", + "erythrocyte", + "abnormal vertebral column", + "Aplasia/hypoplasia of the extremities", + "forelimb skeleton", + "endocrine system", + "abnormally decreased functionality of the anatomical entity", + "skeletal system", + "abnormal cardiac ventricle morphology", + "motile cell", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "limb segment", + "subdivision of vertebral column", "absent manual digit", - "Abnormal hand morphology", - "All", + "decreased size of the cerebellum", + "abnormal phenotype by ontology source", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "abnormal craniocervical region morphology", + "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", + "continuant", + "absent radius bone in the independent continuant", + "systemic arterial system", + "neck bone", + "entire sense organ system", + "absent anatomical entity in the limb", + "abnormal blood vessel morphology", + "lung", + "abnormal biological_process in independent continuant", + "decreased size of the anatomical entity", + "cognition", + "neck", + "abnormal manual digit morphology in the independent continuant", + "shape anatomical entity in independent continuant", + "skeleton of pectoral complex", + "decreased length of anatomical entity in independent continuant", + "Renal hypoplasia/aplasia", + "trunk or cervical vertebra", + "Fetal ultrasound soft marker", + "abnormal neck", + "abnormal brain ventricle morphology", + "endochondral element", + "craniocervical region", + "abnormal trachea morphology", + "male organism", + "abnormal appendicular skeleton morphology", + "anterior region of body", + "aplastic anatomical entity", + "Absent forearm bone", + "abnormal manual digit 1 morphology", + "Abnormal tracheal morphology", + "abnormal respiratory tube morphology", + "dorsum", + "abnormal coronary vessel morphology", + "tracheobronchial tree", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "protein-containing material entity", + "abnormal skeletal system morphology", + "segment of manus", + "main body axis", + "abnormal kidney morphology", + "decreased length of neck", + "cervical vertebra endochondral element", + "postcranial axial skeleton", + "abnormal external ear morphology", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "Abnormality of the musculoskeletal system", + "abnormally decreased number of myeloid cell", + "bone of dorsum", + "abnormal neck morphology", + "abnormal artery morphology", + "Abnormal forearm morphology", + "vertebra", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "reproductive organ", + "cell development", + "skeleton of manus", + "shape helix of outer ear", + "abnormal digestive system morphology", + "abnormal forelimb morphology", + "quality", + "abnormal tracheobronchial tree morphology", + "Abnormal finger morphology", + "Abnormal neck morphology", + "anatomical system", + "upper digestive tract", + "abnormal digit morphology", + "abnormal skeletal system", + "digit 1 plus metapodial segment", + "material anatomical entity", + "skeleton of limb", + "digit plus metapodial segment", + "subdivision of tube", + "aplasia or hypoplasia of manual digit 1", + "system", + "circulatory system", + "bone marrow cell", + "tube", + "brain white matter", + "abnormal developmental process", + "penis", + "digestive system element", + "abnormal size of anatomical entity", + "Abnormality of thrombocytes", "Abnormal axial skeleton morphology", - "appendicular skeleton", - "abnormal skin of body", - "segmental subdivision of nervous system", - "absent anatomical entity in the forelimb", - "Nevus", - "abnormal manual digit morphology in the independent continuant", - "Growth delay", - "forelimb skeleton", - "abnormal anatomical entity morphology in the appendage girdle complex", - "anatomical collection", - "Abnormality of multiple cell lineages in the bone marrow", - "skeleton of pectoral complex", - "manual digitopodium region", - "anterior region of body", - "absent anatomical entity in the multicellular organism", - "forelimb long bone", - "abnormal manus morphology", - "obsolete cellular aromatic compound metabolic process", - "immaterial entity", - "immaterial anatomical entity", - "endochondral element", - "endochondral bone", - "negative regulation of cellular biosynthetic process", - "Abnormal bone structure", - "Abnormality of the mouth", - "arm", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "Abnormal corpus callosum morphology", + "irregular bone", + "organism", + "abnormal limb bone", + "Abnormal nervous system morphology", + "sense organ", "limb", - "lateral structure", - "secondary dentition", + "increased size of the anatomical entity", "abnormal number of anatomical enitites of type anatomical entity", - "digit plus metapodial segment", - "Neoplasm by anatomical site", - "Abnormality of limb bone", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal genitourinary system", - "axial skeletal system", - "abnormality of nervous system physiology", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/hypoplasia involving bones of the extremities", + "limb bone", + "multicellular organismal process", + "organ part", + "absent anatomical entity in the multicellular organism", + "abnormal ductus arteriosus morphology", + "manual digit plus metapodial segment", + "Intellectual disability", + "bone marrow", + "subdivision of organism along main body axis", + "small intestine", "agenesis of anatomical entity", - "Aplasia/Hypoplasia affecting the eye", - "biological_process", - "subdivision of skeleton", - "protein-containing material entity", - "bone of appendage girdle complex", - "manual digit", - "abnormal nervous system morphology", - "abnormal cell", - "bone element", - "nervous system process", + "abnormal manual digit morphology in the manus", + "Abnormal digit morphology", + "phenotype by ontology source", + "abnormal development of anatomical entity", + "subdivision of trunk", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "absent anatomical entity", + "abnormal opening of the anatomical entity", + "ductus arteriosus", + "dorsal region element", "body proper", - "abnormal programmed DNA elimination by chromosome breakage", + "respiratory system", + "pectoral appendage", + "abnormal hematopoietic system morphology", + "system development", + "digit", + "multi-limb segment region", + "acropodium region", + "tube development", + "abnormal manus", + "abnormally increased number of brain ventricle in the independent continuant", + "cerebrospinal fluid", + "All", + "posterior segment of eyeball", + "ectoderm-derived structure", + "Hydrocephalus", + "Abnormal leukocyte count", + "cavitated compound organ", + "aplasia or hypoplasia of cerebellum", + "abnormally increased number of anatomical entity in the independent continuant", + "surface feature shape anatomical entity in independent continuant", + "Abnormal optic disc morphology", + "abnormal brain white matter morphology", + "Abnormality of the outer ear", + "abnormal cardiac septum morphology", + "organism substance", + "Abnormality of limb bone", + "central nervous system", + "ventricular system of central nervous system", + "abnormally increased number of anatomical entity", + "Morphological central nervous system abnormality", + "organ component layer", + "Abnormality of the urinary system", + "Absent radius", + "Abnormal cerebrospinal fluid morphology", + "myelination", + "vascular system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", "Abnormality of brain morphology", - "subdivision of skeletal system", - "sense organ", - "abnormal postcranial axial skeleton morphology", - "telencephalon", - "manual digit 1 plus metapodial segment", - "protein-DNA complex organization", - "organ", - "programmed DNA elimination by chromosome breakage", + "Aplasia/Hypoplasia of the corpus callosum", + "appendage girdle complex", + "subdivision of head", + "transudate", + "abnormal central nervous system morphology", + "abnormal reproductive system", + "abnormal kidney", + "abnormal nervous system morphology", + "abnormal umbilical cord", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "abnormal brain ventricle/choroid plexus morphology", + "ventricle of nervous system", + "increased size of the anatomical entity in independent continuant", + "vestibulo-auditory system", + "abnormal cranial nerve II morphology", + "hematopoietic cell", + "cellular organisms", + "Abnormal lung morphology", + "Decreased anatomical entity position", + "abnormal ear morphology", + "Pancytopenia", + "abnormal head", + "late embryo", + "Gastrointestinal atresia", + "abnormal location of anatomical entity", + "lower respiratory tract", "abnormal bone marrow morphology", - "organism subdivision", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormality of limb bone morphology", + "non-connected functional system", + "abnormal location of ear", + "ear", + "anatomical entity hypoplasia in face", + "abnormal head morphology", + "sensory system", + "gonad", + "abnormal growth", + "abnormal ocular fundus morphology", + "Decreased external ear position", + "platelet", + "abnormal location of external ear", + "Abnormality of the ear", + "Neoplasm", + "Tracheoesophageal fistula", + "Abnormal intestine morphology", + "orbital region", + "abnormal telencephalon morphology", + "external ear", + "abnormal anatomical entity topology in independent continuant", + "Patent ductus arteriosus", + "dorsal part of neck", + "Abnormal pinna morphology", + "abnormal external ear", + "abnormal bone marrow cell", + "trunk", + "abnormal shape of continuant", "zeugopod", + "pair of lungs", + "segment of autopod", + "respiration organ", + "lung lobe development", + "Abnormal respiratory system physiology", + "Abnormal lung development", + "Abnormal lung lobation", + "abnormal lung lobe formation", + "abnormal lung morphology", + "Hypoplastic male external genitalia", + "anatomical structure development", + "anatomical structure formation involved in morphogenesis", + "Hypergonadotropic hypogonadism", + "respiratory system development", + "Abnormality of the orbital region", + "Aplasia/hypoplasia involving forearm bones", + "lung development", + "tract of brain", + "abnormally decreased functionality of the gonad", + "respiratory tube development", + "lung morphogenesis", + "Aplasia/Hypoplasia affecting the fundus", + "Abnormal platelet count", + "manual digit 1 or 5", + "developmental process", + "Abnormal myelination", + "Abnormal heart morphology", + "abnormality of reproductive system physiology", + "Abnormality of the genital system", + "regional part of brain", + "Abnormal posterior eye segment morphology", + "Abnormality of reproductive system physiology", + "Abnormality of the endocrine system", + "hindbrain", + "animal organ morphogenesis", + "abnormal endocrine system", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "Puberty and gonadal disorders", + "ventricular system of brain", + "shape anatomical entity", + "anatomical entity hypoplasia in independent continuant", + "glandular system", + "reproductive structure", + "changed developmental process rate", + "abnormal brain commissure morphology", + "dorsal telencephalic commissure", + "abnormal vasculature", + "abnormal genitourinary system", + "blood cell", + "Abnormality of the genitourinary system", + "Abnormal duodenum morphology", + "abnormal axon tract morphology", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", + "Duodenal atresia", + "vasculature", + "duodenum atresia", + "forelimb endochondral element", + "abnormal duodenum morphology", + "abnormal systemic arterial system morphology", + "Short neck", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal external genitalia", + "Abnormal renal morphology", + "respiratory tract", + "alimentary part of gastrointestinal system atresia", + "arm bone", + "Intestinal atresia", + "intestine", + "duodenum", + "intestine atresia", + "Abnormal small intestine morphology", + "aplasia or hypoplasia of corpus callosum", + "abnormal closing of the anatomical entity", + "abnormal small intestine", + "Abnormality of the male genitalia", + "manual digitopodium region", + "cervical region of vertebral column", + "Abnormal respiratory system morphology", + "Abnormality of blood and blood-forming tissues", + "upper urinary tract", + "delayed growth", + "axial skeletal system", + "Growth abnormality", + "cardiac chamber", + "aplasia or hypoplasia of manual digit", + "face", + "abnormal corpus callosum morphology", + "abnormal orbital region", + "Aplasia/Hypoplasia of the cerebral white matter", + "visual system", + "abnormal external male genitalia", "abnormal anatomical entity morphology in the brain", - "organ system subdivision", - "process", - "main body axis", - "cellular organisms", - "skin of body", - "Abnormal cellular physiology", - "abnormal biological_process", - "multi-tissue structure", - "abnormal forelimb morphology", - "aplasia or hypoplasia of telencephalon", - "abnormal brain morphology", - "abnormal limb bone", - "abnormality of anatomical entity physiology", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormally formed anatomical entity", - "abnormal central nervous system morphology", - "root", - "abnormal size of anatomical entity", - "skull", - "cognition", - "decreased size of the anatomical entity", - "negative regulation of metabolic process", + "multi cell part structure", + "central nervous system myelination", + "abnormal posterior segment of eyeball morphology", "abnormal camera-type eye morphology", - "abnormally localised anatomical entity in independent continuant", - "musculoskeletal system", - "delayed growth", - "abnormal cerebrospinal fluid morphology", - "organism", - "Abnormal skeletal morphology", - "limb endochondral element", - "anatomical entity", - "axial skeleton plus cranial skeleton", - "paired limb/fin skeleton", - "postcranial axial skeletal system", - "abnormal size of skull", - "Abnormality of the musculoskeletal system", - "dysgenesis of the anatomical entity", - "Neurodevelopmental abnormality", - "Abnormal skull morphology", - "Abnormality of the eye", - "abnormal skull morphology", - "erythrocyte", - "abnormal limb bone morphology", - "aplasia or hypoplasia of anatomical entity", - "cellular metabolic process", - "abnormally increased number of anatomical entity", - "abnormal anatomical entity topology in independent continuant", - "limb segment", - "abnormally localised kidney", - "Cerebellar malformation", - "postcranial axial skeleton", - "central nervous system", - "absent anatomical entity", - "Chromosome breakage", - "abnormal number of anatomical enitites of type calcareous tooth", - "Cognitive impairment", - "Metazoa", - "pectoral appendage skeleton", + "Ventricular septal defect", + "cerebral hemisphere", + "abnormal eyeball of camera-type eye", "Abnormality of the kidney", - "anatomical cavity", - "ectoderm-derived structure", - "Aplasia/Hypoplasia of fingers", - "subdivision of tube", - "Opisthokonta", - "Abnormal long bone morphology", - "structure with developmental contribution from neural crest", - "dentition", - "Abnormal myeloid cell morphology", - "abnormally decreased number of anatomical entity in the multicellular organism", - "Aplasia/hypoplasia of the extremities", - "occurrent", - "abnormal skeletal system morphology", - "anatomical system", - "abnormal anatomical entity morphology", - "abnormal skeletal system", - "abnormal organelle organization", - "head", - "abnormal head morphology", + "bodily fluid", + "multi-tissue structure", + "abnormal vascular system morphology", + "photoreceptor array", + "cranial neuron projection bundle", + "abnormal retina morphology", + "great vessel of heart", + "abnormal myeloid cell morphology", + "external male genitalia hypoplasia", + "brain ventricle/choroid plexus", + "aplasia or hypoplasia of cranial nerve II", + "camera-type eye", + "chorioretinal region", + "abnormal immune system", + "optic disc", + "central nervous system cell part cluster", + "abnormal cell morphology", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "ocular fundus", + "brain ventricle", + "eyeball of camera-type eye", + "cervical region", + "Optic disc hypoplasia", + "Eumetazoa", + "Abnormal umbilical cord blood vessel morphology", + "Eukaryota", + "neuron projection bundle", + "simple eye", + "trachea", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "cranial nerve II", + "central nervous system development", + "esophagus", + "hemolymphoid system", + "abnormal size of optic disc", + "Abnormality of the face", + "abnormal face morphology", "forelimb bone", - "subdivision of organism along appendicular axis", - "absent anatomical entity in the independent continuant", - "craniocervical region", - "brain", - "abnormal hematopoietic cell morphology", - "abnormal limb morphology", - "organ part", - "multicellular organism", - "abnormal arm", - "Anal atresia", - "Abnormal nervous system physiology", - "Finger aplasia", - "digitopodium region", - "Tooth agenesis", - "abnormal hematopoietic system", - "hematopoietic cell", - "Decreased head circumference", - "abnormal craniocervical region morphology", - "Abnormality of blood and blood-forming tissues", - "Abnormality of the urinary system", - "Chiari malformation", - "anatomical structure", - "Morphological central nervous system abnormality", - "multicellular organismal process", - "abnormal long bone morphology", - "entity", - "Abnormality of the head", - "Abnormality of mental function", + "anatomical entity hypoplasia", + "increased size of the brain ventricle", + "septum", + "paired limb/fin segment", + "Ventriculomegaly", + "excretory system", + "absent kidney", + "Abnormality of the upper urinary tract", + "manual digit 1 plus metapodial segment", + "abdomen", + "lung lobe morphogenesis", + "abdominal segment of trunk", "abdominal segment element", - "absent digit", - "genitourinary system", - "material anatomical entity", - "appendage", - "aplasia or hypoplasia of skeleton", - "independent continuant", - "upper limb segment", - "cranial skeletal system", - "abnormal nervous system", - "Aplasia/hypoplasia involving bones of the hand", + "subdivision of skeletal system", + "absent kidney in the independent continuant", + "abdomen element", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", "abnormal renal system", + "abnormal respiratory system", + "Renal agenesis", + "abnormal hematopoietic system", + "abnormal biological_process", + "Growth delay", + "kidney", + "abnormal dorsal telencephalic commissure morphology", + "alimentary part of gastrointestinal system", + "abnormal renal system morphology", + "Overfolded helix", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "cardiac septum", + "anucleate cell", + "abnormal number of anatomical enitites of type cell", "Abnormal upper limb bone morphology", - "skeletal element", - "abnormal digit", - "abnormal closing of the anatomical entity", - "material entity", - "organ subunit", - "Abnormal cerebral morphology", - "Ectopic kidney", - "abnormal manual digit morphology in the manus", - "abnormal phenotype by ontology source" + "abnormally decreased number of anatomical entity", + "pectoral appendage skeleton", + "abnormal blood cell morphology", + "Abnormal cellular phenotype", + "myeloid cell", + "abnormal brain morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormally decreased number of cell", + "male reproductive organ", + "disconnected anatomical group", + "abnormal cell", + "abnormal hematopoietic cell morphology", + "digit 1", + "abnormal platelet morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "abnormally decreased number of platelet", + "multicellular organism", + "Thrombocytopenia", + "Abnormal nervous system physiology", + "Abnormality of the immune system", + "heart blood vessel", + "abnormal limb long bone morphology", + "abnormal small intestine morphology", + "eukaryotic cell", + "oxygen accumulating cell", + "Abnormal fundus morphology", + "Abnormality of bone marrow cell morphology", + "leukocyte", + "immune system", + "specifically dependent continuant", + "Abnormality of multiple cell lineages in the bone marrow" ], - "has_phenotype_count": 18, + "has_phenotype_count": 30, "highlight": null, "score": null }, { - "id": "MONDO:0014987", + "id": "MONDO:0013499", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group U", + "name": "Fanconi anemia complementation group P", "full_name": null, "deprecated": null, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.", - "xref": ["DOID:0111085", "GARD:16215", "OMIM:617247", "UMLS:C4310651"], + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.", + "xref": ["DOID:0111092", "GARD:15731", "OMIM:613951"], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, "symbol": null, "synonym": [ - "FANCU", - "Fanconi Anemia, complementation group U", - "Fanconi Anemia, complementation group type U", - "Fanconi anaemia caused by mutation in XRCC2", - "Fanconi anaemia complementation group type U", - "Fanconi anemia caused by mutation in XRCC2", - "Fanconi anemia complementation group type U", - "Fanconi anemia, complementation GROUP U", - "XRCC2 Fanconi anaemia", - "XRCC2 Fanconi anemia" + "FANCP", + "Fanconi Anemia, complementation group type P", + "Fanconi anaemia caused by mutation in SLX4", + "Fanconi anaemia caused by mutation in Slx4", + "Fanconi anaemia complementation group type P", + "Fanconi anemia caused by mutation in SLX4", + "Fanconi anemia caused by mutation in Slx4", + "Fanconi anemia complementation group type P", + "Fanconi anemia, complementation group P", + "SLX4 Fanconi anaemia", + "SLX4 Fanconi anemia", + "Slx4 Fanconi anaemia", + "Slx4 Fanconi anemia" ], "uri": null, "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0040012", - "HP:0000086", - "HP:0010035", - "HP:0000252", "HP:0002984", "HP:0009777", + "HP:0000957", + "HP:0000252", + "HP:0002860", "HP:0001510", - "HP:0003974", - "HP:0001643", - "HP:0012799", - "HP:0011835" + "HP:0000581", + "HP:0001876", + "HP:0000347", + "HP:0009778", + "HP:0000414", + "HP:0001903", + "HP:0012745", + "HP:0000085", + "HP:0003221", + "HP:0004322", + "HP:0000365", + "HP:0000028", + "HP:0000125", + "HP:0001045" ], "has_phenotype_label": [ - "Chromosome breakage", - "Ectopic kidney", - "Aplasia of the 1st metacarpal", - "Microcephaly", "Hypoplasia of the radius", "Absent thumb", + "Cafe-au-lait spot", + "Microcephaly", + "Squamous cell carcinoma", "Growth delay", - "Absent radius", - "Patent ductus arteriosus", - "Unilateral facial palsy", - "Absent scaphoid" + "Blepharophimosis", + "Pancytopenia", + "Micrognathia", + "Short thumb", + "Bulbous nose", + "Anemia", + "Short palpebral fissure", + "Horseshoe kidney", + "Chromosomal breakage induced by crosslinking agents", + "Short stature", + "Hearing impairment", + "Cryptorchidism", + "Pelvic kidney", + "Vitiligo" ], "has_phenotype_closure": [ - "HP:0001191", - "UPHENO:0076767", - "UPHENO:0002961", - "UBERON:0014395", - "UBERON:0013630", - "UPHENO:0026001", - "UPHENO:0081524", - "UBERON:0009878", - "UBERON:0006716", - "UBERON:0017750", - "UBERON:0015049", - "UBERON:0000982", - "UPHENO:0009338", - "UPHENO:0002973", - "UBERON:0004770", - "HP:0011835", - "HP:0006502", - "UBERON:0001427", - 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"UPHENO:0021800", - "HP:0002597", - "UBERON:0003606", - "UPHENO:0087006", - "UBERON:0001647", - "HP:0009823", - "UPHENO:0080556", - "UBERON:0001016", - "HP:0005922", + "UPHENO:0078606", + "HP:0002860", + "UPHENO:0087123", + "UPHENO:0081788", + "HP:0011793", + "UPHENO:0086023", + "HP:0001510", + "GO:0010468", "UPHENO:0000541", + "UBERON:0001456", + "HP:0005105", + "HP:0001507", + "UPHENO:0049874", + "UPHENO:0000543", + "HP:0012745", + "HP:0000492", "UPHENO:0075220", - "UPHENO:0084763", - "HP:0033353", - "GO:0071704", - "HP:0010935", - "UBERON:0002398", - "UBERON:0015789", - "UPHENO:0009382", - "GO:0009892", - "UBERON:0018254", - "UBERON:0005985", - "HP:0005916", - "UBERON:0015212", - "UBERON:0004473", - "UPHENO:0086172", - "UPHENO:0081755", - "GO:0031052", - "UBERON:0013702", - "UBERON:0015024", - "UPHENO:0087349", - "HP:0033127", - "UBERON:0002101", - "HP:0004243", - "GO:0006325", - "UBERON:0008229", - "UPHENO:0076692", - "UPHENO:0053580", - "UPHENO:0016527", + "UPHENO:0086595", + "UBERON:0034921", + "UBERON:0011584", + "UPHENO:0084987", + "HP:0006503", + "UBERON:0002104", + "UBERON:0003462", + "HP:0000315", + "UPHENO:0085189", + "UPHENO:0046753", + "UBERON:0003103", + "UPHENO:0080200", + "HP:0200007", + "HP:0000125", + "UPHENO:0002910", + "HP:0032039", + "HP:0030669", + "UBERON:0000161", + "UPHENO:0084761", + "HP:0001872", + "UBERON:0001819", + "UPHENO:0034770", + "UBERON:0034923", + "UPHENO:0076761", + "HP:0010461", + "UPHENO:0054567", + "HP:0045025", + "UPHENO:0041821", + "UPHENO:0020041", + "HP:0000271", + "UBERON:0001474", + "CL:0000329", + "UBERON:0001690", + "UPHENO:0086173", + "UPHENO:0077426", + "UPHENO:0085984", + "HP:0002715", + "CL:0000457", + "UBERON:0000064", + "CL:0000081", + "CL:0000763", + "HP:0031816", + "CL:0000232", + "UBERON:0004375", + "HP:0011873", + "CL:0000233", + "UBERON:0019231", + "UBERON:0010364", + "UBERON:0013522", + "UBERON:0001710", + "HP:0020047", + "UPHENO:0002903", + "UPHENO:0081466", + "CL:0002092", + "UPHENO:0085371", + "UPHENO:0086045", + "HP:0011875", + "UPHENO:0087355", + "UPHENO:0087339", + "UBERON:0000479", + "UPHENO:0079876", + "UBERON:0001007", + "CL:0000000", + "UPHENO:0020950", + "HP:0000581", + "UPHENO:0085344", "UPHENO:0076779", - "UBERON:0001981", - "UBERON:0013701", - "UBERON:0011143", - "UBERON:0001009", - "UPHENO:0002832", - "HP:0009658", - "HP:0012210", + "UBERON:0000079", + "HP:0001871", + "HP:0012145", + "UPHENO:0075997", + "UBERON:0002371", + "CL:0000458", + "UPHENO:0087089", + "CL:0000764", + "UPHENO:0085070", "HP:0025354", - "GO:0009889", - "UBERON:0004452", - "GO:0071824", - "UPHENO:0002642", - "NCBITaxon:2759", - "UBERON:0000153", - "UPHENO:0084761", - "UBERON:0004453", - "UBERON:0000468", - "UBERON:0000489", - "UBERON:0000916", - "UBERON:0004302", - "UBERON:0010000", - "UBERON:0004122", - "HP:0000001", - "UPHENO:0075902", - "UBERON:0015078", - "GO:0050794", - "UBERON:0011216", - "GO:0010468", - "GO:0031327", - "UBERON:0000075", - "UBERON:0004111", - "UBERON:0010688", - "HP:0009659", - "UBERON:0000465", - "UBERON:0000062", - "UBERON:0002616", - "UPHENO:0026055", - "UPHENO:0026181", - "BFO:0000003", - "UPHENO:0080126", - "UBERON:0012141", - "HP:0006496", - "HP:0005927", - "HP:0010035", + "CL:0000255", + "UPHENO:0080099", + "CL:0000219", + "UBERON:0011159", + "GO:0071704", + "CL:0002242", + "UPHENO:0002948", "UBERON:0002100", - "UPHENO:0050113", - "UPHENO:0001001", - "GO:0006139", - "UPHENO:0049700", - "HP:0001367", - "HP:0006501", - "HP:0003019", - "GO:1901360", - "GO:0043933", - "UPHENO:0026506", - "GO:0010556", - "UPHENO:0078730", - "UPHENO:0087427", - "UPHENO:0002433", - "HP:0030319", - "GO:0043170", - "HP:0000252", - "HP:0030962", - "UBERON:0005172", - "GO:0046483", - "UBERON:0004765", - "GO:0006725", - "GO:0034641", - "UBERON:0019231", - "GO:0031323", - "UBERON:0011249", - "HP:0011314", - "GO:0009890", + "UPHENO:0076675", + "UPHENO:0063722", + "HP:0001881", "GO:0016043", - "UBERON:0005173", - "UPHENO:0020041", - "BFO:0000004", - "UPHENO:0079872", - "UBERON:0002417", - "UPHENO:0049873", - "UPHENO:0049748", - "UBERON:0011138", - "UBERON:0002513", - "UBERON:0000475", - "UBERON:0006058", - "GO:0006996", - "UBERON:0019221", - "BFO:0000020", - "UBERON:0005451", - "UPHENO:0002320", - "HP:0100542", - "UPHENO:0076703", - "UBERON:0001637", - "GO:0019222", - "UPHENO:0080083", - "UPHENO:0080173", - "UPHENO:0001002", - "UBERON:0010712", - "HP:0000234", - "UPHENO:0076755", - "UPHENO:0001005", - "UBERON:0005881", - "UPHENO:0075696", - "GO:0050789", - "UPHENO:0050121", - "UBERON:0009880", - "UBERON:0015063", - "HP:0000118", - "HP:0002813", - "UPHENO:0076729", - "UBERON:0015061", - "GO:0008150", - "UPHENO:0050845", - "HP:0011017", + "UPHENO:0015280", + "UPHENO:0075902", + "HP:0005561", + "HP:0011893", + "HP:0010987", + "UPHENO:0002597", + "UPHENO:0002764", + "UPHENO:0076941", + "GO:0032502", + "UPHENO:0002832", + "HP:0032251", + "UPHENO:0026028", + "UPHENO:0084928", + "UPHENO:0085302", "GO:0071840", - "UBERON:0001785", - "GO:0044237", + "HP:0002818", + "HP:0002813", + "HP:0000277", + "UPHENO:0046411", + "HP:0009122", + "HP:0000347", + "HP:0025031", + "GO:0006725", + "UPHENO:0087501", + "UPHENO:0076800", + "HP:0025033", + "UBERON:0004768", + "UPHENO:0081141", + "UBERON:0004088", + "UBERON:0000025", + "UBERON:0012360", + "UBERON:0011158", + "UBERON:0010313", + "CL:0000015", + "UPHENO:0002830", + "UBERON:0004288", + "UBERON:0011595", + "UPHENO:0053644", + "UBERON:0007842", + "UPHENO:0087924", + "UBERON:0007914", + "HP:0011821", + "UPHENO:0076803", + "UPHENO:0081091", + "UPHENO:0080165", + "HP:0009118", + "UBERON:0001684", + "UBERON:0015021", + "UBERON:0001708", + "UBERON:0003135", + "HP:0009116", + "UBERON:0003457", + "UPHENO:0081786", + "UPHENO:0076692", + "UPHENO:0069249", + "HP:0034261", + "GO:0050877", + "HP:0011927", + "HP:0009381", + "UPHENO:0011498", + "UBERON:0004381", + "UPHENO:0046624", "GO:0031326", - "BFO:0000002", - "GO:0008152", - "HP:0002060", - "GO:0031324", + "UPHENO:0065599", + "UBERON:0000466", + "UPHENO:0087907", + "UBERON:0034929", + "GO:0008150", + "UBERON:0006983", + "UPHENO:0084727", + "UPHENO:0076805", + "UPHENO:0088168", + "UPHENO:0084715", + "UPHENO:0087430", + "UBERON:0002268", + "OBI:0100026", + "UPHENO:0001072", + "UBERON:0002470", + "UBERON:0007827", + "CL:0000300", + "HP:0012130", + "UBERON:0001008", + "UPHENO:0041629", + "UBERON:0002398", + "UBERON:0009569", + "UPHENO:0082129", + "UPHENO:0074572", + "UBERON:0002417", + "HP:0100542", + "UBERON:0000916", + "UPHENO:0002907", + "HP:0010935", + "UPHENO:0002595", + "UBERON:0004122", + "UBERON:0010323", + "UBERON:0000489", + "GO:0031052", + "HP:0000085", "UBERON:8450002", - "UPHENO:0087018", - "UPHENO:0021840", - "GO:0010558", - "UBERON:0004573", - "UPHENO:0081455", - "UBERON:0001062", - "UBERON:0010959", - "UBERON:0004708", - "UBERON:0000010", - "UBERON:0000026", - "HP:0003220", - "UBERON:0000481", - "UBERON:0012475", - "UBERON:0001480", - "UPHENO:0086635", - "UBERON:0010546", - "BFO:0000015", - "UBERON:0003656", - "UPHENO:0080079", - "UBERON:0001434", - "UPHENO:0002536", - "GO:0009987", - "UPHENO:0003587", - "HP:0010242", - "UPHENO:0046538", - "UBERON:0002428", - "GO:0044238", - "GO:0006807", - "UPHENO:0076799", - "GO:0090304", - "UBERON:0004535", - "HP:0000119", - "UBERON:0000061", - "UPHENO:0002696", - "GO:0060255", - "UPHENO:0001003", - "UBERON:0012151", - "UPHENO:0049990", - "UBERON:0007272", - "BFO:0000001", - "UPHENO:0020584", - "UBERON:0011584", - "HP:0001627", - "GO:0010629", - "UBERON:0000467", - "GO:0031049", - "UPHENO:0087501", - "UPHENO:0076723", - "CL:0000000", - "BFO:0000040", - "GO:0048523" + "UBERON:0005173", + "UPHENO:0041226", + "UBERON:0011143", + "UBERON:0005177", + "UBERON:0008962", + "UBERON:0001463", + "UBERON:0008907", + "HP:0012210", + "UPHENO:0087427", + "UPHENO:0050113", + "GO:0008152" ], "has_phenotype_closure_label": [ - "aplasia or hypoplasia of carpal bone", - "articulation", - "articular system", - "Abnormal joint morphology", - "carpal skeleton", - "mesopodial skeleton", - "Aplasia/Hypoplasia involving the carpal bones", - "Absent scaphoid", - "proximal carpal bone", - "carpus endochondral element", - "skeletal joint", - "proximal mesopodial bone", - "proximal carpal endochondral element", - "multi organ part structure", - "abnormal nerve", - "radiale", - "Abnormality of the peripheral nervous system", - "skeletal muscle organ, vertebrate", - "abnormality of nervous system physiology", - "Abnormal peripheral nerve morphology by anatomical site", - "face", - "Abnormal nervous system physiology", - "Abnormality of facial musculature", - "mesopodium bone", - "paralysed cranial nerve", - "Facial palsy", - "Abnormality of facial soft tissue", - "abnormal carpal region", - "subdivision of head", - "muscle organ", - "gustatory system", - "craniocervical region musculature", - "abnormal skeletal joint morphology in the pectoral complex", - "abnormal muscle organ morphology", - "Abnormal skeletal muscle morphology", - "abnormal musculature", - "Muscle weakness", - "neuron projection bundle", - "facial muscle", - "Abnormality of the musculature", - "facial nerve", - "cranial neuron projection bundle", - "Abnormal cranial nerve morphology", - "skeletal musculature", - "decreased anatomical entity strength", - "Abnormal muscle physiology", - "Abnormal peripheral nervous system morphology", - "musculature of face", - "aplastic carpal bone", - "musculature of body", - "multi cell part structure", - "Cranial nerve paralysis", - "paralysed anatomical entity", - "abnormal peripheral nervous system", - "abnormality of muscle organ physiology", - "decreased muscle organ strength", - "Abnormality of the seventh cranial nerve", - "abnormality of anatomical entity physiology", - "artery", - "vasculature", - "Abnormality of the wrist", - "cardiovascular system", - "blood vessel", - "Abnormal vascular morphology", - "systemic arterial system", - "anatomical conduit", - "arterial blood vessel", - "trunk blood vessel", - "great vessel of heart", - "anatomical cluster", - "abnormal radiale", - "Patent ductus arteriosus", - "circulatory organ", - "viscus", - "thoracic segment organ", - "vasculature of organ", - "vasculature of trunk", - "thoracic segment of trunk", - "vascular system", - "abnormal vasculature", - "Abnormal blood vessel morphology", - "abnormal heart morphology", - "embryonic cardiovascular system", - "disconnected anatomical group", - "Abnormal morphology of the great vessels", - "abnormal incomplete closing of the anatomical entity", - "Congenital malformation of the great arteries", - "heart plus pericardium", - "abnormal artery morphology", - "Abnormality of cardiovascular system morphology", - "heart vasculature", - "abnormal artery morphology in the independent continuant", - "Abnormality of the vasculature", - "abnormal great vessel of heart morphology", - "Weakness of facial musculature", - "abnormal cardiovascular system", - "abnormal blood vessel morphology", - "primary circulatory organ", - "vessel", - "abnormal vascular system morphology", - "abnormal peripheral nervous system morphology", - "abnormal ductus arteriosus morphology", - "aplastic forelimb zeugopod bone", - "Aplasia involving forearm bones", - "absent radius bone in the forelimb", - "absent radius bone in the independent continuant", - "absent radius bone", - "Absent forearm bone", - "growth", - "abnormal growth", - "carpal region", - "Growth delay", - "delayed biological_process", - "zeugopodial skeleton", - "radius bone hypoplasia", - "Short long bone", - "anatomical entity hypoplasia", - "decreased size of the anatomical entity in the pectoral complex", - "forelimb zeugopod skeleton", - "decreased size of the anatomical entity in the independent continuant", - "cranial or facial muscle", - "abnormal forelimb zeugopod bone", - "Abnormal forearm bone morphology", - "Aplasia/hypoplasia involving forearm bones", - "decreased length of anatomical entity", - "forelimb zeugopod bone hypoplasia", - "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "arm bone", - "blood vasculature", - "radius bone", - "Hypoplasia of the radius", - "decreased length of long bone", - "Limb undergrowth", - "Abnormal forearm morphology", + "Pelvic kidney", + "Ectopic kidney", + "reproductive process", + "Abnormal testis morphology", + "abnormal male reproductive system morphology", + "Abnormality of male external genitalia", + "Abnormal male reproductive system physiology", + "male gamete generation", + "sexual reproduction", + "developmental process involved in reproduction", + "multicellular organismal reproductive process", + "decreased developmental process", + "absent gamete", + "sperm", + "reproductive structure", + "decreased qualitatively developmental process", + "decreased spermatogenesis", + "external male genitalia", + "testis", + "Abnormal reproductive system morphology", + "Azoospermia", + "male germ cell", + "male gamete", + "abnormally localised anatomical entity in independent continuant", + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "Abnormal external genitalia", + "organism substance", + "semen", + "reproduction", + "abnormal testis morphology", + "abnormal number of anatomical enitites of type sperm", + "male reproductive system", + "abnormal location of anatomical entity", + "spermatogenesis", + "absent anatomical entity in the semen", + "abnormal developmental process involved in reproduction", + "Functional abnormality of male internal genitalia", + "abnormal gamete", + "Abnormality of reproductive system physiology", + "haploid cell", + "reproductive system", + "Cryptorchidism", + "external genitalia", + "internal genitalia", + "gonad", + "abnormal reproductive system morphology", + "abnormal internal genitalia", + "germ cell", + "gamete", + "abnormality of reproductive system physiology", + "absent germ cell", + "decreased qualitatively sensory perception of mechanical stimulus", + "abnormal developmental process", + "sensory perception", + "decreased sensory perception of sound", + "abnormal sensory perception", + "Hearing abnormality", + "abnormality of anatomical entity physiology", + "ear", + "multicellular organismal process", + "sensory perception of sound", + "system process", + "abnormal anatomical entity topology in independent continuant", + "decreased qualitatively sensory perception of sound", + "Short stature", + "abnormal size of multicellular organism", + "decreased height of the multicellular organism", + "abnormality of multicellular organism height", + "abnormal primary metabolic process", + "Abnormality of metabolism/homeostasis", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "vestibulo-auditory system", + "protein-DNA complex organization", + "nervous system process", + "abnormal nitrogen compound metabolic process", + "abnormal organelle organization", + "abnormal reproductive process", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "regulation of cellular metabolic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process", + "protein-containing complex organization", + "regulation of biological process", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", + "cellular metabolic process", + "abnormal cellular component organization", + "Chromosome breakage", + "negative regulation of gene expression", + "abnormal metabolic process", + "Chromosomal breakage induced by crosslinking agents", + "metabolic process", + "cellular process", + "abnormal DNA metabolic process", + "Abnormality of head or neck", "craniocervical region", - "Morphological central nervous system abnormality", - "zeugopod", - "abnormal anatomical entity morphology in the brain", - "abnormal brain morphology", + "regional part of brain", "aplasia or hypoplasia of telencephalon", - "organism", + "Aplasia/Hypoplasia involving the central nervous system", + "facial bone hypoplasia", + "abnormal external genitalia", + "Abnormal renal morphology", + "regional part of nervous system", + "abnormal external male genitalia", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "visual system", + "Abnormal skull morphology", + "Abnormal cellular immune system morphology", + "Abnormal cerebral morphology", + "arm bone", + "main body axis", + "abnormal kidney morphology", + "Narrow palpebral fissure", + "renal system", + "multi-tissue structure", "axial skeleton plus cranial skeleton", - "paired limb/fin skeleton", - "postcranial axial skeletal system", + "abnormality of internal male genitalia physiology", + "Abnormality of the nervous system", + "sensory system", + "abnormal nervous system", + "organic substance metabolic process", + "Abnormality of the head", + "abnormal pigmentation", + "pigmentation", + "decreased length of forelimb zeugopod bone", + "changed biological_process rate in independent continuant", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "Abnormality of skin pigmentation", + "skeleton of limb", + "neural crest-derived structure", + "aplasia or hypoplasia of skull", + "increased qualitatively biological_process", + "anatomical collection", + "All", + "increased biological_process in skin of body", + "abnormally increased volume of nose", + "increased biological_process", + "abnormal myeloid cell morphology", + "increased pigmentation in independent continuant", + "Abnormal oral morphology", + "abnormal anatomical entity morphology", + "increased pigmentation", + "increased qualitatively biological_process in independent continuant", + "absent sperm", + "limb segment", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "Cafe-au-lait spot", + "primary subdivision of skull", + "obsolete cellular nitrogen compound metabolic process", + "abnormal integument", + "biological_process", + "obsolete multicellular organism reproduction", + "cellular organisms", "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "Abnormality of chromosome stability", + "immaterial entity", + "abnormally localised testis", + "absent anatomical entity in the independent continuant", + "Aplasia/Hypoplasia of the thumb", + "bone cell", + "Abnormal myeloid cell morphology", + "abnormal manus morphology", + "Neoplasm", + "digit", + "Hyperpigmentation of the skin", + "abnormal manual digit 1 morphology", + "Short thumb", + "integumental system", "absent anatomical entity", - "central nervous system", - "Abnormal cranial nerve physiology", - "forebrain", - "Eukaryota", - "Abnormality of the musculoskeletal system", - "abnormal size of skull", - "abnormal organelle organization", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "gamete generation", + "protein-containing material entity", + "abnormal skeletal system morphology", + "Abnormal digit morphology", + "abnormal immune system morphology", + "Absent thumb", + "abnormal autopod region morphology", + "agenesis of anatomical entity", + "ectoderm-derived structure", + "abnormal anatomical entity morphology in the manus", + "abnormal facial skeleton morphology", + "negative regulation of cellular process", + "abnormal limb", + "bone marrow", + "skeleton of manus", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "organism", + "Neoplasm of the skin", + "anatomical system", + "segment of autopod", + "organic cyclic compound metabolic process", + "aplastic manual digit 1", + "dentary", + "independent continuant", + "abnormal growth", + "abnormal leukocyte morphology", + "abnormal size of anatomical entity", + "material anatomical entity", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", + "manual digit plus metapodial segment", + "Abnormal forearm morphology", + "abnormal anatomical entity", + "decreased size of the anatomical entity in the independent continuant", + "abnormal cellular process", + "secretory cell", + "Abnormal nervous system morphology", + "abnormal limb bone", + "sense organ", + "bone element", + "anatomical conduit", + "abnormal limb morphology", + "forelimb zeugopod skeleton", + "facial skeleton", + "paired limb/fin", + "Hypoplasia of the radius", "abnormal head morphology", + "abnormal multicellular organismal reproductive process", + "manual digit", + "U-shaped anatomical entity", + "multi-limb segment region", + "endochondral element", + "Forearm undergrowth", + "abnormal biological_process in independent continuant", + "decreased size of the anatomical entity", + "skeletal element", + "zeugopod", + "body proper", + "central nervous system", + "Abnormality of limb bone", "head", - "ectoderm-derived structure", - "abnormal craniocervical region morphology", - "abnormal skull morphology", - "Abnormal digit morphology", + "digit plus metapodial segment", + "external soft tissue zone", + "abnormal skin of body morphology", + "increased biological_process in independent continuant", + "increased size of the anatomical entity", + "limb", + "decreased size of the multicellular organism", "Abnormality of skull size", - "abnormal cardiovascular system morphology", - "Abnormality of head or neck", - "abnormal carpal bone morphology", - "abnormal DNA metabolic process", - "abnormal chromatin organization", + "trunk region element", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", + "zeugopodial skeleton", + "limb long bone", + "Short forearm", + "delayed biological_process", + "subdivision of digestive tract", + "limb endochondral element", + "Macule", + "negative regulation of biosynthetic process", + "long bone", + "material entity", + "decreased width of the palpebral fissure", + "Abnormal appendicular skeleton morphology", + "Abnormal skeletal morphology", + "Abnormal forebrain morphology", "forelimb", - "abnormal anatomical entity morphology in the skeleton of manus", + "decreased size of the anatomical entity in the pectoral complex", "autopodial skeleton", - "absent carpal bone in the limb", - "Abnormal morphology of the radius", - "bone of free limb or fin", - "abnormal anatomical entity", - "paired limb/fin", - "Abnormal appendicular skeleton morphology", - "Abnormality of upper limb joint", - "abnormal anatomical entity morphology in the manus", - "Aplasia/hypoplasia involving the skeleton", - "root", - "abnormal central nervous system morphology", - "carpal bone", - "Abnormal renal morphology", - "Abnormality of limbs", - "ductus arteriosus", - "multicellular anatomical structure", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal proximal phalanx of manus morphology", - "abnormal metacarpal bone of digit 1 morphology", - "Aplasia involving bones of the extremities", - "Aplasia/Hypoplasia of the 1st metacarpal", - "system", - "Aplasia involving bones of the upper limbs", - "cranial nerve", - "pectoral appendage", - "abnormal nervous system", - "short bone", - "lateral structure", - "limb", - "mesoderm-derived structure", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormality of the face", - "cellular component organization or biogenesis", - "Phenotypic abnormality", - "abnormal digit morphology", - "Aplasia/Hypoplasia of the proximal phalanges of the hand", - "phenotype", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal manus", - "manual digit 1", - "abnormal metacarpal bone morphology", - "abnormal forelimb morphology", - "absent anatomical entity in the skeletal system", - "abnormal limb long bone morphology", + "Abnormal facial skeleton morphology", + "Aplasia/hypoplasia of the extremities", + "decreased qualitatively reproductive process", + "Hypoplastic facial bones", + "Aplasia/hypoplasia involving bones of the hand", + "negative regulation of macromolecule biosynthetic process", + "germ line cell", + "bone element hypoplasia in independent continuant", + "abnormal gamete generation", + "leukocyte", + "abnormal skin of body", + "Abnormality of bone marrow cell morphology", "abnormal cellular metabolic process", - "acropodium region", - "abnormal carpal bone", - "manual digit metacarpus endochondral element", + "Aplasia/Hypoplasia of facial bones", + "musculoskeletal system", + "absent digit", + "phenotype", + "Abnormal cell morphology", + "quality", + "anatomical entity hypoplasia", + "forelimb bone", + "Morphological central nervous system abnormality", + "Abnormality of the urinary system", + "forelimb skeleton", + "genitourinary system", + "primary metabolic process", + "Abnormality of the skin", + "forelimb endochondral element", + "abnormal number of anatomical enitites of type anatomical entity", "Finger aplasia", - "digitopodium region", - "manual digit 1 metacarpus endochondral element", - "aplasia or hypoplasia of metacarpal bone", - "abnormal anatomical entity morphology in the independent continuant", - "segment of manus", - "multi-limb segment region", - "endochondral element", - "Abnormal metacarpal morphology", - "abnormal nervous system morphology", - "abnormal cell", - "bone element", - "radius endochondral element", - "trunk", - "digit 1 plus metapodial segment", - "nervous system", - "skeleton of limb", + "abnormal number of anatomical enitites of type leukocyte", "limb bone", - "digit 1 digitopodial skeleton", - "manual digit digitopodial skeleton", - "Aplasia/Hypoplasia involving the metacarpal bones", - "abnormal arm", - "aplasia or hypoplasia of manual digit", - "absent forelimb zeugopod bone", - "absent metacarpal bone in the independent continuant", - "autopodial extension", - "abnormal kidney", - "acropodial skeleton", - "abnormal cranial nerve morphology", - "biological_process", - "subdivision of skeleton", - "protein-containing material entity", - "abnormal limb bone morphology", - "abnormal limb bone", - "paired limb/fin segment", - "Aplasia of the proximal phalanges of the hand", - "Aplasia/hypoplasia involving bones of the hand", - "systemic artery", - "structure with developmental contribution from neural crest", - "Abnormal long bone morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "manual digitopodium region", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal forebrain morphology", - "manus", - "abnormal craniocervical region", - "Microcephaly", - "manual digit plus metapodial segment", - "phalanx endochondral element", - "limb skeleton subdivision", - "skeleton of digitopodium", + "abnormal craniocervical region morphology", + "continuant", + "lateral structure", + "integument", "skeleton of pectoral complex", - "Abnormality of the nervous system", - "abnormal cellular component organization", - "appendicular skeletal system", - "Abnormal heart morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormal skeletal morphology", - "abnormal anatomical entity length", - "trunk region element", - "pectoral complex", - "anatomical collection", - "Forearm undergrowth", - "Aplasia/Hypoplasia of fingers", - "abnormal size of anatomical entity", - "metacarpal bone of digit 1", - "regional part of brain", - "metapodium region", - "abnormal appendicular skeleton morphology", - "Eumetazoa", - "segment of autopod", - "heart", - "upper limb segment", - "decreased size of the anatomical entity", - "abnormally localised anatomical entity in independent continuant", - "musculoskeletal system", + "decreased length of anatomical entity in independent continuant", + "paired limb/fin segment", "compound organ", - "autopod region", - "abnormal upper urinary tract", - "macromolecule metabolic process", - "bone of pectoral complex", - "obsolete nitrogen compound metabolic process", - "proximal phalanx", - "manual digit 1 or 5", - "metapodial skeleton", - "abnormally localised anatomical entity", - "Partial absence of thumb", - "digit 1 or 5", - "absent manual digit", - "abnormality of cranial nerve physiology", - "Abnormal hand morphology", - "Abnormal axial skeleton morphology", - "appendicular skeleton", - "All", - "absent anatomical entity in the forelimb", - "metacarpus region", - "abnormal manual digit morphology in the independent continuant", - "digit plus metapodial segment", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", - "manual digit phalanx endochondral element", - "abnormal location of anatomical entity", - "Aplasia of the 1st metacarpal", - "abnormal forelimb zeugopod morphology", - "manual digit 1 digitopodial skeleton", - "Absent thumb", - "manus bone", + "eye", "skeleton", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", "Abnormal finger morphology", - "abnormal manual digit 1 morphology", - "Abnormal cerebral morphology", - "aplasia or hypoplasia of manual digit 1 phalanx", - "Abnormality of thumb phalanx", - "Abnormal finger phalanx morphology", - "abnormal phalanx of manus morphology", - "absent metacarpal bone", - "abnormal facial muscle", - "Opisthokonta", - "metapodium bone", - "delayed growth", - "metacarpus skeleton", - "abnormal manus morphology", - "cell", - "phenotype by ontology source", - "forelimb long bone", - "circulatory system", - "subdivision of skeletal system", - "chromatin organization", - "manual digit 1 phalanx", - "upper urinary tract", - "skeletal system", - "manual digit 1 phalanx endochondral element", - "autopod bone", - "decreased length of anatomical entity in independent continuant", - "autopod endochondral element", - "Aplasia of the phalanges of the hand", - "phalanx of manus", - "Chromosome breakage", - "abnormal head", - "digit 1", - "regional part of nervous system", - "abnormal skeletal joint morphology in the independent continuant", - "abnormal face", - "aplastic anatomical entity", - "abnormal primary metabolic process", - "Abnormality of the hand", - "subdivision of organism along main body axis", - "Aplasia/Hypoplasia of the thumb", - "manual digit bone", - "absent anatomical entity in the metacarpus region", - "Abnormality of limb bone", - "skeleton of manual digitopodium", - "axial skeletal system", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal genitourinary system", - "Aplasia/hypoplasia involving bones of the extremities", - "anterior region of body", + "Abnormal erythrocyte morphology", + "forelimb zeugopod", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "appendage", + "root", + "subdivision of skeleton", + "Aplasia/Hypoplasia of the radius", + "endochondral bone", + "paired limb/fin skeleton", + "abnormal spermatogenesis", + "organelle organization", + "postcranial axial skeletal system", + "abnormal digit morphology", + "skeleton of lower jaw", + "subdivision of organism along appendicular axis", + "skull", + "limb skeleton subdivision", + "abnormal forelimb zeugopod bone", + "Abnormal ocular adnexa morphology", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "decreased length of anatomical entity", + "bone of pectoral complex", + "entity", + "subdivision of skeletal system", + "nervous system", + "forelimb zeugopod bone", + "Abnormality of brain morphology", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", + "forelimb zeugopod bone hypoplasia", + "abnormal limb bone morphology", + "abnormal phenotype by ontology source", + "decreased size of the mandible", + "absent manual digit", + "abnormal radius bone morphology", + "organ system subdivision", + "decreased length of palpebral fissure", + "abnormal blood cell", + "erythrocyte", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "membrane bone", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "system", + "bone marrow cell", + "appendicular skeletal system", + "Abnormal nasal morphology", "absent anatomical entity in the multicellular organism", - "long bone", - "anatomical entity hypoplasia in independent continuant", - "Short forearm", + "hematopoietic system", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively biological_process", + "anatomical entity", "bone of appendage girdle complex", - "proximal mesopodial endochondral element", - "brain", - "Aplasia/Hypoplasia of the phalanges of the hand", - "primary metabolic process", - "aplastic manual digit 1 phalanx", - "abdominal segment element", - "absent digit", - "abnormally localised kidney", - "Aplasia of metacarpal bones", - "abnormal phalanx morphology", - "aplasia or hypoplasia of proximal phalanx of manus", - "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the pectoral complex", + "decreased biological_process", + "radius bone hypoplasia", + "aplasia or hypoplasia of anatomical entity", + "absent sperm in the semen", + "Abnormal long bone morphology", "absent anatomical entity in the limb", - "abnormal postcranial axial skeleton morphology", - "telencephalon", - "manual digit 1 plus metapodial segment", - "Aplasia/Hypoplasia involving the central nervous system", - "protein-DNA complex organization", - "organ", - "programmed DNA elimination by chromosome breakage", + "Abnormal forearm bone morphology", + "abnormal pigmentation in independent continuant", + "Abnormality of the ocular adnexa", + "abnormally localised anatomical entity", + "Micrognathia", + "Microcephaly", + "Abnormality of the musculoskeletal system", + "abnormality of ear physiology", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "Abnormality of digestive system morphology", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormal arm", + "radius endochondral element", + "Aplasia/hypoplasia involving forearm bones", + "abnormal nose tip morphology", + "obsolete cellular aromatic compound metabolic process", "organism subdivision", - "thoracic cavity element", - "Abnormality of the kidney", - "cavitated compound organ", - "abnormal limb", - "digit", - "Abnormality of the skeletal system", - "abdominal segment of trunk", - "individual digit of digitopodial skeleton", - "body proper", - "abdomen element", - "subdivision of trunk", - "forelimb zeugopod", - "Abnormal nervous system morphology", - "genitourinary system", - "abnormal manual digit morphology in the manus", - "Ectopic kidney", - "regulation of cellular metabolic process", - "regulation of biological process", - "Abnormal thumb morphology", - "thoracic segment blood vessel", + "organ", + "abnormal male reproductive organ morphology", + "occurrent", + "skeletal system", + "motile cell", + "upper limb segment", + "appendicular skeleton", + "abnormal upper urinary tract", + "Limb undergrowth", + "abnormal face morphology", "arm", - "abnormal opening of the anatomical entity", - "subdivision of organism along appendicular axis", - "absent anatomical entity in the independent continuant", - "abnormal limb morphology", - "bone element hypoplasia in independent continuant", - "Abnormality of the cardiovascular system", - "Abnormal cellular physiology", - "multi-tissue structure", - "abnormal biological_process", - "abnormal anatomical entity morphology", - "cellular component organization", - "musculature", - "Abnormal skull morphology", - "Abnormality of the scaphoid", - "nucleobase-containing compound metabolic process", - "Abnormal 1st metacarpal morphology", - "heart blood vessel", - "process", - "organ system subdivision", + "abnormal nose morphology", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", "decreased size of the radius bone", - "skull", - "phalanx", - "multicellular organism", - "Carpal bone aplasia", - "agenesis of anatomical entity", - "abnormal renal system", - "postcranial axial skeleton", - "abnormal kidney morphology", - "negative regulation of macromolecule biosynthetic process", - "Abnormality of the genitourinary system", - "aplasia or hypoplasia of anatomical entity", - "aplastic phalanx of manus", - "forelimb zeugopod bone", - "quality", - "negative regulation of cellular biosynthetic process", - "aplasia or hypoplasia of radius bone", - "main body axis", - "cellular organisms", - "biological regulation", - "anatomical system", - "negative regulation of macromolecule metabolic process", - "metapodium bone 1", - "organic substance metabolic process", - "abnormal coronary vessel morphology", - "appendage", - "material anatomical entity", - "abdomen", - "abnormal metabolic process", - "coronary vessel", + "Abnormal cellular phenotype", + "subdivision of trunk", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "bone of lower jaw", + "mandible hypoplasia", "aplasia or hypoplasia of skeleton", - "aplasia or hypoplasia of metacarpal bone of digit 1", - "abnormal forebrain morphology", - "craniocervical muscle", - "negative regulation of gene expression", - "digitopodium bone", - "limb segment", - "abnormal anatomical entity topology in independent continuant", - "negative regulation of metabolic process", - "manual digitopodium bone", - "abnormal skeletal system morphology", - "abnormal facial nerve", - "peripheral nervous system", - "obsolete cell", - "occurrent", - "regulation of cellular process", - "regulation of gene expression", - "abnormal nitrogen compound metabolic process", - "appendage girdle complex", - "abnormal telencephalon morphology", - "outflow tract", - "cellular process", + "abnormal craniocervical region", + "abnormal mouth", + "male organism", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "digit 1 plus metapodial segment", "abnormal skeletal system", - "cellular metabolic process", - "abnormal anatomical entity morphology in the heart", - "endochondral bone", - "specifically dependent continuant", - "nerve", - "limb long bone", - "absent radiale", + "subdivision of head", + "appendage girdle complex", + "macromolecule metabolic process", + "manual digit 1", "regulation of metabolic process", - "arterial system", + "autopodial extension", + "abnormal face", + "abnormal telencephalon morphology", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "tissue", + "forelimb long bone", + "abnormal size of skull", + "cell", + "Abnormality of the mouth", + "Eumetazoa", + "negative regulation of cellular metabolic process", + "Eukaryota", + "decreased length of manual digit", + "abnormal central nervous system morphology", + "abnormal reproductive system", + "abnormal kidney", + "abnormal forebrain morphology", + "abnormal nervous system morphology", + "abnormal cell morphology", + "telencephalon", + "forebrain", + "blood cell", + "head bone", + "Abnormality of the genitourinary system", + "cranial skeletal system", + "postcranial axial skeleton", + "Decreased head circumference", + "pectoral complex", + "dermatocranium", + "Abnormal axial skeleton morphology", + "erythroid lineage cell", + "obsolete heterocycle metabolic process", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", + "mesoderm-derived structure", + "Squamous cell carcinoma", + "delayed growth", + "axial skeletal system", + "Growth abnormality", + "aplasia or hypoplasia of manual digit", + "face", + "abnormal orbital region", + "Abnormal localization of kidney", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", + "kidney", + "abnormal biological_process", + "Growth delay", + "digestive system element", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "decreased width of the anatomical entity", + "Abnormality of the upper urinary tract", + "Vitiligo", + "acropodium region", + "Short palpebral fissure", + "Abnormal eyelid morphology", + "multi organ part structure", + "hemolymphoid system", + "organ part", + "Abnormality of the orbital region", + "Abnormal size of the palpebral fissures", + "non-connected functional system", + "orbital region", + "camera-type eye", + "Abnormality of the hand", + "radius bone", + "Anemia", + "palpebral fissure", + "Abnormality of the ear", + "eyelid", + "Blepharophimosis", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "abdomen element", + "reproductive organ", + "Short long bone", + "abnormal skull morphology", + "abnormal palpebral fissure", + "Abnormal mandible morphology", + "abnormally decreased number of cell", + "abnormal size of palpebral fissure", + "Non-obstructive azoospermia", + "abnormal ocular adnexa", "abnormal bone of pectoral complex morphology", - "organic cyclic compound metabolic process", - "obsolete cellular aromatic compound metabolic process", - "Abnormality of the upper urinary tract", - "Aplasia/Hypoplasia of the phalanges of the thumb", - "obsolete cellular nitrogen compound metabolic process", - "kidney", + "orifice", + "ocular adnexa", + "simple eye", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "manus", + "abnormal eyelid morphology", + "decreased height of the anatomical entity", + "regulation of cellular process", + "Abnormality of the face", + "phenotype by ontology source", + "abnormal ocular adnexa morphology", + "Abnormality of the palpebral fissures", + "abnormal hematopoietic system", + "Abnormality of the immune system", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "abnormal limb long bone morphology", + "eukaryotic cell", + "hematopoietic cell", + "anucleate cell", + "changed biological_process rate", + "external nose", + "oxygen accumulating cell", + "nucleate cell", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "abnormal number of anatomical enitites of type cell", + "sensory perception of mechanical stimulus", + "skin of body", + "Abnormal upper limb bone morphology", + "abnormally decreased number of anatomical entity", + "Abnormal immune system morphology", + "pectoral appendage skeleton", + "abnormal blood cell morphology", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "absent sperm in the independent continuant", + "platelet", + "abnormal brain morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal immune system", + "abnormal hematopoietic system morphology", "abnormal programmed DNA elimination by chromosome breakage", - "Abnormality of brain morphology", - "abnormal cellular process", - "regulation of biosynthetic process", - "abnormal skeletal joint morphology", - "decreased length of forelimb zeugopod bone", - "Aplasia/hypoplasia of the extremities", - "absent carpal bone in the independent continuant", - "abnormal systemic artery morphology", - "Decreased head circumference", - "mesopodium region", - "Absent radius", - "nucleic acid metabolic process", - "nerve of head region", - "metabolic process", - "abnormal phenotype by ontology source", - "negative regulation of cellular metabolic process", - "skeletal musculature of head", - "abnormal long bone morphology", - "entity", - "protein-containing complex organization", - "aplastic metacarpal bone of digit 1", - "Abnormality of the urinary system", - "anatomical structure", - "Abnormality of metabolism/homeostasis", - "renal system", + "specifically dependent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + "male reproductive organ", + "disconnected anatomical group", + "abnormal cell", + "cavitated compound organ", + "Abnormal leukocyte count", + "primary subdivision of cranial skeletal system", + "abnormal hematopoietic cell morphology", + "digit 1", + "abnormal platelet morphology", + "Abnormal platelet morphology", + "Abnormal leukocyte morphology", + "internal male genitalia", + "programmed DNA elimination", + "obsolete cell", + "decreased length of long bone", + "digestive system", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "abnormally decreased number of platelet", + "Abnormal platelet count", + "nucleobase-containing compound metabolic process", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "abnormal manus", + "bone element hypoplasia in face", + "digit 1 or 5", + "U-shaped kidney", + "bone of jaw", + "subdivision of tube", + "aplasia or hypoplasia of mandible", + "Abnormality of the digestive system", + "abnormal forelimb morphology", + "abnormal digestive system morphology", + "abnormal digit", + "lower jaw region", + "Pancytopenia", + "decreased width of the anatomical entity in independent continuant", + "abnormal head", + "jaw region", + "abnormality of anatomical entity height", + "subdivision of organism along main body axis", + "dermal skeletal element", + "Abnormality of the integument", + "increased size of the anatomical entity in independent continuant", + "abnormal male reproductive system", + "abnormal mouth morphology", + "mouth", + "abnormal mandible morphology", + "abnormal head bone morphology", + "Aplasia/Hypoplasia involving bones of the skull", + "Abnormality of body height", + "tube", + "Abnormality of the genital system", + "intramembranous bone", + "structure with developmental contribution from neural crest", + "bone of craniocervical region", + "anatomical entity hypoplasia in face", + "mandible", + "immune system", + "facial bone", + "Abnormality of thrombocytes", "Upper limb undergrowth", + "jaw skeleton", + "dermal bone", + "negative regulation of biological process", + "digestive tract", "aplasia or hypoplasia of manual digit 1", - "skeleton of manus", - "aplastic manual digit 1", - "continuant", - "regulation of macromolecule metabolic process", - "regulation of cellular biosynthetic process", - "conceptus", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormality of limb bone morphology", - "aplasia or hypoplasia of phalanx of manus", - "cranial muscle", - "independent continuant", - "Abnormal proximal phalanx morphology of the hand", - "forelimb skeleton", - "absent metacarpal bone in the metacarpus region", - "skeleton of manual acropodium", - "axial musculature", + "dermal skeleton", + "abnormal digestive system", + "abnormal ear", + "Abnormal jaw morphology", + "abnormal jaw skeleton morphology", + "Short finger", + "Short digit", + "anterior region of body", + "decreased length of manual digit 1", + "Abnormal nasal tip morphology", + "aplastic anatomical entity", + "Bulbous nose", + "Abnormal external nose morphology", + "entire sense organ system", + "abnormal external nose morphology", + "nose", + "immaterial anatomical entity", + "Abnormality of the nose", + "Aplasia/Hypoplasia of the mandible", + "abnormally decreased number of myeloid cell", + "abnormal nose", + "abnormally increased volume of anatomical entity", + "nose tip", + "anatomical point", + "olfactory organ", + "abnormal erythrocyte morphology", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", + "trunk", + "abnormal bone marrow cell", + "abnormal shape of continuant", "excretory system", - "negative regulation of cellular process", - "cranial skeletal system", - "abnormal digit", - "metacarpal bone", - "material entity", - "Growth abnormality", + "Abnormal cellular physiology", + "3-D shape anatomical entity in independent continuant", + "3-D shape anatomical entity", + "abnormal manual digit morphology in the independent continuant", + "shape anatomical entity in independent continuant", + "manual digit 1 plus metapodial segment", + "abdomen", + "biological regulation", + "abdominal segment of trunk", + "abdominal segment element", + "Abnormality of the kidney", + "Horseshoe kidney", + "developmental process", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "shape kidney", + "abnormal renal system", + "changed developmental process rate", + "abnormal genitourinary system", + "Abnormality of the male genitalia", + "manual digitopodium region", + "Abnormality of blood and blood-forming tissues", + "decreased length of digit", + "upper urinary tract", + "anatomical entity hypoplasia in independent continuant", + "shape anatomical entity", + "concave 3-D shape anatomical entity", "abnormal renal system morphology", - "programmed DNA elimination", - "proximal phalanx of manus", - "forelimb bone", - "Abnormal localization of kidney", - "muscle structure", - "Abnormality of the head", - "Abnormal carpal morphology", - "skeletal element", - "Abnormal upper limb bone morphology", - "limb endochondral element", - "anatomical entity", - "abnormal autopod region morphology", - "Unilateral facial palsy", - "forelimb endochondral element", - "manual digit", - "DNA metabolic process", - "negative regulation of biosynthetic process", - "obsolete heterocycle metabolic process", - "organelle organization", - "abnormal incomplete closing of the ductus arteriosus", - "negative regulation of biological process", - "pectoral appendage skeleton", - "Abnormal cellular phenotype" + "abnormal chromatin organization", + "chromatin organization", + "negative regulation of cellular biosynthetic process", + "pectoral appendage", + "regulation of gene expression", + "cellular component organization" ], - "has_phenotype_count": 11, + "has_phenotype_count": 20, "highlight": null, "score": null }, { - "id": "MONDO:0054748", + "id": "MONDO:0014986", "category": "biolink:Disease", - "name": "Fanconi anemia, complementation group S", + "name": "Fanconi anemia complementation group R", "full_name": null, "deprecated": null, - "description": null, - "xref": ["GARD:16264", "OMIM:617883"], + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene.", + "xref": ["DOID:0111090", "GARD:16214", "OMIM:617244", "UMLS:C4284093"], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, "symbol": null, "synonym": [ - "FANCS", - "Fanconi anemia, complementation GROUP S", - "Fanconi anemia, complementation group S" + "FANCR", + "Fanconi Anemia, complementation group R", + "Fanconi Anemia, complementation group type R", + "Fanconi anaemia caused by mutation in RAD51", + "Fanconi anaemia complementation group type R", + "Fanconi anemia caused by mutation in RAD51", + "Fanconi anemia complementation group type R", + "Fanconi anemia, complementation GROUP R", + "RAD51 Fanconi anaemia", + "RAD51 Fanconi anemia" ], "uri": null, "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0100615", "HP:0001249", - "HP:0040012", + "HP:0009777", + "HP:0000238", + "HP:0006433", + "HP:0002650", + "HP:0002023", "HP:0000252", - "HP:0008070", - "HP:0000280", - "HP:0000430", - "HP:0000750", - "HP:0000316", - "HP:0000581", - "HP:0000527", + "HP:0001510", + "HP:0006349", + "HP:0000125", + "HP:0005528", "HP:0000568", - "HP:0000689", - "HP:0000426", - "HP:0000294", - "HP:0001263", - "HP:0003002", - "HP:0025318", - "HP:0000215", - "HP:0030084", + "HP:0007099", "HP:0001903", - "HP:0001508", - "HP:0001251", - "HP:0004322", - "HP:0000463", - "HP:0000189", - "HP:0000582", - "HP:0001572", - "HP:0000286", - "HP:0009623" + "HP:0003221", + "HP:0031936", + "HP:0002144", + "HP:0003764" ], "has_phenotype_label": [ - "Ovarian neoplasm", "Intellectual disability", - "Chromosome breakage", + "Absent thumb", + "Hydrocephalus", + "Radial dysplasia", + "Scoliosis", + "Anal atresia", "Microcephaly", - "Sparse hair", - "Coarse facial features", - "Underdeveloped nasal alae", - "Delayed speech and language development", - "Hypertelorism", - "Blepharophimosis", - "Long eyelashes", + "Growth delay", + "Agenesis of permanent teeth", + "Pelvic kidney", + "Bone marrow hypocellularity", "Microphthalmia", - "Dental malocclusion", - "Prominent nasal bridge", - "Low anterior hairline", - "Global developmental delay", - "Breast carcinoma", - "Ovarian carcinoma", - "Thick upper lip vermilion", - "Clinodactyly", + "Chiari type I malformation", "Anemia", - "Failure to thrive", - "Ataxia", - "Short stature", - "Anteverted nares", - "Narrow palate", - "Upslanted palpebral fissure", - "Macrodontia", - "Epicanthus", - "Proximal placement of thumb" + "Chromosomal breakage induced by crosslinking agents", + "Delayed ability to walk", + "Tethered cord", + "Nevus" ], "has_phenotype_closure": [ - "UBERON:0019221", - "UBERON:0001460", - "UBERON:0002389", - "UBERON:5001463", - "UPHENO:0084448", - "HP:0002817", - "UBERON:0006048", - "UPHENO:0002708", - "UPHENO:0084834", - "HP:0009484", - "UPHENO:0002880", - "HP:0004097", - "UBERON:0002102", - 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"UBERON:0010708", - "UPHENO:0018390", + "UPHENO:0035025", + "UBERON:0001007", + "UPHENO:0049700", + "UPHENO:0011589", + "HP:0005927", + "NCBITaxon:33208", + "UPHENO:0002536", + "UPHENO:0076692", "UBERON:0000019", - "UPHENO:0022529", - "UPHENO:0049367", - "HP:0010787", - "UPHENO:0075219", - "BFO:0000141", - "GO:0048523", - "HP:0000316", - "HP:0200006", - "UBERON:0001819", - "HP:0000315", - "UPHENO:0081423", - "UBERON:0010712", - "UPHENO:0003020", - "UPHENO:0018424", - "UPHENO:0075997", - "UPHENO:0080585", - "UBERON:0000467", - "UBERON:0003277", - "HP:0000119", - "NBO:0000313", - "HP:0000708", - "GO:0034641", - "HP:0012758", - "UBERON:0015212", - "UBERON:0004375", - "HP:0005105", - "UBERON:0000991", - "UBERON:0002090", - "GO:0048519", - "UBERON:0034929", - "HP:0011017", - "UBERON:0010230", - "HP:0012745", - "UBERON:0013703", - "UPHENO:0081786", - "HP:0045025", - "UPHENO:0049586", - "HP:0002463", - "HP:0002167", - "UBERON:0002418", - "UBERON:0000015", - "UPHENO:0055730", - "UPHENO:0076799", + "UBERON:0010708", + "GO:0050890", + "UPHENO:0084761", + "UPHENO:0047419", + "UPHENO:0011498", + "HP:0006496", + "UBERON:0001434", + "UPHENO:0004523", + "UPHENO:0056237", + "UBERON:0010758", + "UPHENO:0026506", + "GO:0032501", + "UPHENO:0004459", + "UBERON:0002428", + "BFO:0000004", + "HP:0000001", + "UBERON:0001442", + "UPHENO:0080209", + "UBERON:0004923", + "UBERON:0012354", "UBERON:0000020", - "UBERON:0004456", - "UBERON:0001711", - "HP:0011442", - "UBERON:0007827", - "UPHENO:0087113", - "UBERON:0001823", - "UPHENO:0012541", - "UBERON:0002268", - "HP:0000429", - "UPHENO:0087950", - "UBERON:0010707", + "HP:0040072", + "UPHENO:0080099", + "UBERON:0003129", + "UBERON:0015061", + "HP:0001249", "UPHENO:0002833", - "UPHENO:0075198", - "UBERON:0001032", - "UPHENO:0079876", - "UBERON:0002390", - "UBERON:0034923", - "UPHENO:0087974", - "UPHENO:0065599", - "UBERON:0002384", - "UPHENO:0088168", - "UPHENO:0002907", - "UPHENO:0005431", - "UBERON:0001833", - "HP:0000499", - "GO:0031324", - "UPHENO:0002712", - "HP:0009924", - "UBERON:0005928", - "UPHENO:0081338", - "NBO:0000327", - "UBERON:0011156", - "UPHENO:0076800", - "HP:0003549", - "UBERON:0004755", - "HP:0030027", - "HP:0002763", - "UPHENO:0003085", - "HP:0100886", - "HP:0010938", - "UBERON:0001444", - "UPHENO:0020809", - "UPHENO:0004708", - "HP:0001999", - "UPHENO:0081790", - "PR:000050567", - "HP:0001595", - "UPHENO:0086475", - "UBERON:0001037", - "UPHENO:0019384", - "HP:0009603", - "UBERON:0000483", - "HP:0000951", - "UBERON:0001463", - "UBERON:0035639", - "UBERON:0001834", - "UBERON:0010371", - "HP:0011121", - "HP:0012638", - "UBERON:0004175", - "HP:0008070", - "UBERON:0000021", - "UBERON:0000970", - "HP:0000366", - "UPHENO:0006910", - "HP:0001251", - "HP:0011339", - "UBERON:0000004", - "UBERON:0003975", - "HP:0008056", - "HP:0011362", - "UBERON:0001091", - "UPHENO:0011535", - "UPHENO:0080369", - "GO:0043933", - "UBERON:0034768", - "UPHENO:0076739", - "HP:0002011", - "HP:0009121", - "UPHENO:0002910", - "UPHENO:0005170", - "UBERON:3000961", - "NCBITaxon:33208", - "UBERON:0010314", - "GO:0006259", - "OBI:0100026", - "GO:0010556", - "UBERON:0010222", - "UPHENO:0086589", - "UBERON:0013701", - "GO:0050896", - "UBERON:0000475", - "UPHENO:0003811", - "UPHENO:0076702", - "UPHENO:0082903", - "UBERON:0007376", + "UPHENO:0076703", + "BFO:0000040", "UBERON:0002544", - "UPHENO:0050021", - "UPHENO:0002964", - "GO:0071704", - "UPHENO:0000541", - "UPHENO:0003055", - "UPHENO:0075220", - "UBERON:0000468", - "UPHENO:0052178", - "NCBITaxon:2759", - "HP:0100615", - "UPHENO:0086143", - "HP:0000234", - "UPHENO:0075677", - "UBERON:0005451", - "GO:0032501", - "UPHENO:0087907", - "UBERON:1000021", - "HP:0200007", + "GO:0006259", + "UPHENO:0076720", + "UBERON:0002100", + "UPHENO:0082875", + "UBERON:0001474", + "UBERON:0005358", + "GO:0044237", + "HP:0002977", + "UBERON:0010363", + "UBERON:0006058", + "NCBITaxon:131567", + "UPHENO:0076723", + "HP:0000077", + "UPHENO:0002905", + "UPHENO:0086635", + "HP:0033127", + "UBERON:0002471", + "HP:0040070", + "HP:0100547", + "UPHENO:0002880", + "GO:1901360", + "BFO:0000141", "UPHENO:0002830", - "HP:0007364", - "UBERON:0002097", - "UBERON:0001890", - "HP:0000152", - "HP:0012372", - "UBERON:0013766", - "GO:0031052", - "UBERON:0013702", - "UBERON:0002204", - "UPHENO:0002764", - "HP:0001877", - "UPHENO:0011498", - "UBERON:0010912", - "GO:0090304", - "UBERON:0000474", - "HP:0010720", - "HP:0010785", - "HP:0001172", - "HP:0000240", - "UPHENO:0075195", - "HP:0000581", - "UPHENO:0079826", - "HP:0000252", - "UPHENO:0021791", + "HP:0001903", + "UBERON:0005944", + "UBERON:0034925", + "UBERON:0004708", + "UPHENO:0086932", + "UBERON:5002544", + "UBERON:0000465", + "UBERON:0001130", + "UBERON:0005881", + "HP:0003330", + "HP:0040012", + "UPHENO:0071344", + "UBERON:0000467", + "UPHENO:0081466", + "UBERON:0004765", + "UPHENO:0085144", + "UBERON:0004288", + "GO:0010558", + "UBERON:0008785", + "UBERON:0012139", + "UPHENO:0084448", + "UBERON:0004710", + "UPHENO:0085068", + "UPHENO:0009382", + "HP:0000238", + "UBERON:5001463", + "HP:0000163", + "UPHENO:0002433", + "UBERON:0003947", + "NCBITaxon:2759", + "UBERON:0002389", + "UBERON:0001895", + "UPHENO:0002826", + "UBERON:0010740", + "UBERON:0004121", + "UBERON:0015203", + "UPHENO:0002642", + "UPHENO:0080325", + "HP:0011355", + "UBERON:0001359", + "UPHENO:0087006", + "UPHENO:0088047", + "UBERON:0000064", + "UPHENO:0056212", + "UPHENO:0078606", + "HP:0002664", + "UBERON:0004733", + "UPHENO:0056333", + "HP:0012443", + "UPHENO:0035147", + "UBERON:0005282", + "HP:0000929", + "UBERON:0000073", "RO:0002577", - "UBERON:0004121", "UBERON:0000955", - "UBERON:0009678", - "UPHENO:0087089", - "UPHENO:0082938", - "UBERON:0004288", - "UPHENO:0076761", - "UPHENO:0076766", - "UBERON:0000003", - "UBERON:0001003", - "HP:0000924", - "HP:0012443", - "HP:0012639", - "UBERON:0005725", - "UBERON:0005944", - "UBERON:0011932", - "UPHENO:0087307", - "UBERON:0011249", - "UPHENO:0003013", + "UBERON:0005281", + "GO:0016043", + "HP:0002011", + "UBERON:0000047", + "HP:0025461", + "UPHENO:0076805", "GO:0031323", - "HP:0003002", - "GO:0065007", + "HP:0000079", + "UBERON:0002513", "UBERON:0011138", - "NBO:0000339", - "UBERON:0034925", - "UPHENO:0000543", - "UPHENO:0050116", - "UBERON:0010323", - "HP:0000286", - "NCBITaxon:131567", - "NCBITaxon:1", - "NCBITaxon:33154", - "UPHENO:0069523", - "UBERON:0000466", - "UBERON:0000033", - "UBERON:5002389", - "HP:0002977", - "HP:0040195", - "HP:0033127", - "GO:0010558", - "UPHENO:0076727", - "UPHENO:0002332", - "UBERON:0004529", - "HP:0005922", - "UBERON:0001016", - "GO:0031327", - "HP:0000492", - "UPHENO:0076703", - "GO:0019222", - "UPHENO:0010795", - "UPHENO:0076805", - "UPHENO:0087518", - "UBERON:0016446", - "UPHENO:0001001", - "HP:0000689", - "UPHENO:0050113", - "HP:0011443", - "GO:0006139", - "UPHENO:0002598", - "UPHENO:0002433", - "GO:0043170", - "GO:0046483", - "UPHENO:0002536", - "UBERON:0001434", - "UBERON:0000481", - "HP:0025031", - "GO:0009890", - "GO:0016043", - "HP:0040012", - "UPHENO:0088133", - "HP:0025354", - "HP:0020047", - "UPHENO:0086172", - "UPHENO:0050845", - "HP:0000430", - "UBERON:0002470", - "UPHENO:0049587", - "UPHENO:0049990", - "UPHENO:0049873", - "UBERON:0000025", - "UPHENO:0088186", - "UBERON:0003566", - "UPHENO:0001072", - "UPHENO:0081566", - "HP:0008050", - "UPHENO:0005433", + "UPHENO:0026183", + "HP:0040068", + "UPHENO:0056072", + "UBERON:0002028", "BFO:0000002", - "GO:0008152", - "HP:0000294", - "HP:0002060", - "HP:0000812", + "HP:0012639", + "UPHENO:0047299", + "UBERON:0004086", + "UPHENO:0076702", + "HP:0031938", + "UBERON:0000463", + "UBERON:0000161", + "HP:0025031", + "UBERON:0002104", + "HP:0002118", + "UPHENO:0081451", + "UPHENO:0087349", + "UBERON:0002386", + "UBERON:0015021", "GO:0009987", - "UPHENO:0019853", - "UPHENO:0087435", - "UPHENO:0049748", - "UBERON:0007844", - "UPHENO:0002768", - "UBERON:0000047", - "HP:0000929", - "HP:0000137", - "UPHENO:0068971", - "BFO:0000015", - "HP:0000582", - "UPHENO:0080079", - "GO:0044237", - "HP:0001574", - "UPHENO:0002896", - "UPHENO:0078606", - "UBERON:0006906", - "UPHENO:0081435", - "GO:0031326", - "BFO:0000003", - "UBERON:0002616", - "UPHENO:0002642", - "GO:0071824", - "GO:0009892", - "UPHENO:0020584", - "HP:0004322", - "GO:0010629", - "UBERON:0003672", - "GO:0006807", - "GO:0044238", - "HP:0000159", - "HP:0100013", - "UBERON:0004111", - "UBERON:0004089", - "UPHENO:0020950", - "UBERON:0000062", + "UBERON:0010703", + "UPHENO:0086956", + "UPHENO:0079872", + "UPHENO:0002751", "BFO:0000020", - "UPHENO:0087472", - "HP:0000002", - "HP:0011842", - "GO:0060255", - "UPHENO:0072261", - "GO:0050877", - "UBERON:0002398", - "HP:0030084", - "HP:0000280", - "UBERON:0001893", - "UPHENO:0076791", - "UBERON:0015061", - "GO:0008150", - "GO:0031049", - "UBERON:5002544", - "UBERON:0002199", - "GO:0007610", - "HP:0000750", - "HP:0011446", - "UPHENO:0021474", - "HP:0100543", - "GO:0003008", - "UPHENO:0086842", - "UBERON:0000465", - "GO:0010468", - "HP:0001249", - "GO:0009889", - "HP:0025461", - "UPHENO:0004523", - "GO:0005623", - "HP:0002664", - "UPHENO:0080200", - "HP:0001508", - "UPHENO:0049622", - "UPHENO:0015280", - "UPHENO:0082875", - "UPHENO:0002931", - "UBERON:0005156", - "UBERON:0007375", - "CL:0000000", - "UPHENO:0081091", - "UPHENO:0087806", - "UPHENO:0072195", - "UPHENO:0087547", - "HP:0000271", - "NCBITaxon:6072", - "CL:0000232", - "UPHENO:0075878", - "GO:0050890", - "HP:0007379", - "UBERON:0001007", - "UPHENO:0086635", - "HP:0010460", - "UBERON:0000990", - "UBERON:0001017", - "UBERON:0000073", - "HP:0000008", - "UBERON:0001084", - "HP:0000463", - "UBERON:0002104", - "BFO:0000004", - "GO:0071840", - "HP:0012243", - "UPHENO:0080352", - "UPHENO:0002828", - "UBERON:0000992", - "HP:0011793", - "UBERON:0010000", - "UBERON:0003100", - "UBERON:0001062", - "UBERON:0007811", - "UBERON:0004765", - "GO:0006725", - "UBERON:0000061", - "UBERON:0004088", - "UPHENO:0054610", - "UPHENO:0001002", - "UPHENO:0050121", - "GO:0050789", - "UPHENO:0075696", - "UBERON:0011216", - "UPHENO:0021517", - "UPHENO:0002844", - "UPHENO:0084766", - "UBERON:0011676", - "HP:0000153", - "GO:0050794", - "UBERON:0004122", - "UBERON:0006003", - "BFO:0000001", - "UPHENO:0087924", - "UPHENO:0001003", - "HP:0000118", - "UPHENO:0087566", - "UBERON:0034944", - "UPHENO:0075159", - "UPHENO:0072194", - "HP:0000001", - "UBERON:0011137", - "UBERON:0000064", - "UPHENO:0084761", - "UBERON:0000153", - "UBERON:0000403", - "GO:0006996", - "HP:0012759", - "UBERON:0015203", - "GO:1901360", - "UPHENO:0020955", - "UBERON:0000063", - "UPHENO:0049700", - "UBERON:0006333", + "UBERON:0001555", + "UBERON:0006048", + "UPHENO:0087510", + "UPHENO:0080114", + "UBERON:0015001", + "UBERON:0004381", + "UBERON:0008962", + "HP:0004378", + "HP:0031936", + "GO:0048519", + "HP:0011314", + "UPHENO:0086644", + "UBERON:0004456", + "UBERON:0001423", + "UPHENO:0087924", + "UPHENO:0001002", + "UBERON:0003460", + "UBERON:0010741", + "UBERON:0003466", + "UPHENO:0076718", + "HP:0000925", + "GO:0031326", + "UBERON:0002090", + "UPHENO:0002813", + "HP:0006433", + "UBERON:0000025", + "UPHENO:0022529", + "HP:0009121", + "HP:0011793", + "UPHENO:0076786", + "HP:0002818", + "HP:0002023", "HP:0025033", - "HP:0000707", - "HP:0000478", - "UBERON:0034921", - "UPHENO:0076692", - "UBERON:0000075", - "UBERON:0003133", - "UBERON:0002529", - "HP:0100887", - "UPHENO:0049874", - "PATO:0000001", - "UBERON:0003102", - "UBERON:0000026", - "HP:0003220", - "CL:0000329", - "UBERON:0013522", - "UBERON:0019231", - "UBERON:0003134", - "HP:0100547", - "UBERON:5006048", - "UPHENO:0054577", - "HP:0001939", - "UPHENO:0001005", - "UPHENO:0054567", - "BFO:0000040" + "UBERON:0001245", + "HP:0006483", + "UBERON:0010912", + "UPHENO:0063565" ], "has_phenotype_closure_label": [ - "abnormal anatomical entity morphology in the manus", - "Proximal placement of thumb", - "pectoral appendage", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormal manus", - "multi-limb segment region", - "manual digit plus metapodial segment", - "abnormal arm", - "abnormal manual digit morphology in the manus", - "Abnormality of the upper limb", - "manual digitopodium region", - "manus", - "pectoral complex", - "upper limb segment", - "Abnormal hand morphology", - "Deviation of the hand or of fingers of the hand", - "abnormal manus morphology", - "arm", - "manual digit", - "skin of head", - "zone of skin", - "abnormal zone of skin morphology", - "tooth-like structure", - "Macrodontia", - "calcareous tooth", - "abnormal calcareous tooth morphology", - "Slanting of the palpebral fissure", - "roof of mouth", - "abnormal roof of mouth morphology", - "Narrow palate", - "abnormal secondary palate morphology", - "decreased width of the secondary palate", - "Abnormal nostril morphology", - "chemosensory system", - "olfactory system", - "external naris", - "abnormal size of multicellular organism", - "decreased height of the anatomical entity", - "decreased size of the multicellular organism", - "abnormality of anatomical entity height", - "delayed growth", - "Abnormality of body height", - "decreased height of the multicellular organism", - "delayed biological_process", - "decreased qualitatively response to stimulus", - "motor coordination", - "abnormally decreased rate of motor coordination", - "cognitive behavior", - "vestibular behavior", - "abnormal manual digit 1 morphology", - "Abnormal finger morphology", - "abnormally decreased rate of behavior process", - "somatic sensation related behavior", - "Abnormality of coordination", - "epicanthal fold", - "Abnormal central motor function", - "decreased motor coordination", - "sensation behavior", - "decreased multicellular organism mass", - "growth", - "abnormal growth", - "Failure to thrive", - "abnormality of multicellular organism mass", - "Decreased body weight", - "decreased qualitatively biological_process", - "Decreased multicellular organism mass", - "decreased anatomical entity mass", - "abnormal hematopoietic system", - "Abnormal myeloid cell morphology", - "myeloid cell", - "Abnormal erythroid lineage cell morphology", - "oxygen accumulating cell", + "Abnormality of the skin", + "abnormal skin of body morphology", + "skin of body", + "integument", + "integumental system", + "Nevus", + "Abnormal spinal cord morphology", + "spinal cord", + "Abnormal conus terminalis morphology", + "dorsum", + "abnormal primary metabolic process", + "negative regulation of biosynthetic process", + "abnormal organelle organization", + "programmed DNA elimination", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "nucleic acid metabolic process", + "protein-containing complex organization", + "regulation of biological process", + "primary metabolic process", + "obsolete nitrogen compound metabolic process", + "cellular component organization or biogenesis", + "abnormal cellular component organization", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormal metabolic process", + "Chromosomal breakage induced by crosslinking agents", + "metabolic process", + "abnormal cellular process", + "regulation of cellular process", + "negative regulation of biological process", + "organelle organization", + "obsolete cellular nitrogen compound metabolic process", + "regulation of gene expression", + "negative regulation of cellular biosynthetic process", + "chromatin organization", + "Chromosome breakage", + "abnormal chromatin organization", "abnormal erythroid lineage cell morphology", + "Abnormal erythrocyte morphology", + "abnormal hematopoietic cell morphology", + "abnormal spinal cord morphology", + "Abnormal erythroid lineage cell morphology", "abnormal myeloid cell morphology", - "Abnormal cell morphology", + "oxygen accumulating cell", + "hematopoietic cell", + "abnormally formed anatomical entity", + "segmental subdivision of nervous system", + "hindbrain", + "Abnormal metencephalon morphology", + "Cerebellar malformation", + "Motor delay", + "regulation of macromolecule biosynthetic process", + "abnormal size of eyeball of camera-type eye", + "abnormal face morphology", + "cellular metabolic process", + "simple eye", + "abnormal integument", + "eyeball of camera-type eye", + "decreased size of the anatomical entity in the independent continuant", + "orbital region", + "Abnormality of the orbital region", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", + "decreased size of the eyeball of camera-type eye", + "Anemia", + "camera-type eye", + "abnormal bone marrow cell", "Abnormality of blood and blood-forming tissues", - "abnormal erythrocyte morphology", - "subdivision of organism along appendicular axis", - "bone of free limb or fin", - "limb endochondral element", - "Abnormality of limbs", - "Abnormal appendicular skeleton morphology", - "digitopodium region", - "skeleton of limb", - "secondary palate", - "abnormal cell morphology", - "limb bone", - "digit plus metapodial segment", - "appendage", - "erythrocyte", - "abnormal limb bone morphology", - "abnormal limb bone", - "abnormal anatomical entity morphology in the appendage girdle complex", - "limb skeleton subdivision", - "abnormal appendicular skeleton morphology", - "autopod region", - "mesoderm-derived structure", - "abnormal digit", - "endochondral bone", - "Short stature", - "Abnormality of limb bone", - "deviation of anatomical entity towards the middle", - "Abnormal palate morphology", - "Abnormality of limb bone morphology", - "Thick vermilion border", - "zone of organ", - "upper lip", - "Thick upper lip vermilion", - "digit 1 plus metapodial segment", - "trunk", - "thoracic segment of trunk", - "subdivision of trunk", - "abnormal chest morphology", - "Abnormal thorax morphology", + "abnormal cell", + "immune system", + "disconnected anatomical group", + "abnormal immune system", + "non-connected functional system", + "Abnormal cellular phenotype", + "Abnormality of the integument", + "abnormal skin of body", + "Abnormality of bone marrow cell morphology", "hemolymphoid system", - "Neoplasm of the breast", - "abnormal chest", - "Abnormal breast morphology", - "abnormal manual digit morphology in the independent continuant", - "Breast carcinoma", - "Abnormality of the breast", - "abnormal breast morphology", - "Global developmental delay", - "hairline", - "scalp", - "forehead", - "hair of head", - "abnormal scalp", - "manual digit 1", - "Abnormality of the forehead", - "abnormal forehead", - "Anemia", - "Congenital abnormal hair pattern", - "abnormally protruding anatomical entity", - "prominent anatomical entity", - "snout", - "abnormal midface morphology", - "abnormal nasal bridge morphology", - "abnormal snout morphology", - "nasal bridge", - "Deviation of finger", - "Abnormal midface morphology", - "tooth row", - "subdivision of tube", - "Abnormality of the frontal hairline", - "anatomical row", + "Abnormality of the immune system", + "abnormal hematopoietic system", + "abnormal renal system morphology", + "abnormal anatomical entity topology in independent continuant", + "abnormal genitourinary system", + "abnormally localised anatomical entity", + "Ectopic kidney", + "abnormal renal system", + "negative regulation of cellular metabolic process", + "abnormal bone marrow cell morphology", + "abdomen element", + "abnormal eyeball of camera-type eye", + "Abnormality of the kidney", + "abnormally localised anatomical entity in independent continuant", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "abdominal segment element", + "abdominal segment of trunk", + "abdomen", + "Abnormality of the upper urinary tract", + "abnormal bone marrow morphology", + "abnormal location of anatomical entity", + "abnormal erythrocyte morphology", + "Abnormal number of permanent teeth", + "abnormally localised kidney", + "abnormally decreased number of anatomical entity in the multicellular organism", + "Abnormality of the face", + "Agenesis of permanent teeth", + "abnormally decreased number of anatomical entity", + "anatomical cavity", + "abnormally decreased number of calcareous tooth", + "cellular component organization", + "abnormal number of anatomical enitites of type calcareous tooth", + "secondary dentition", + "abnormal mouth morphology", + "calcareous tooth", "dentition", - "midface", - "digestive system", - "primary subdivision of skull", - "jaw skeleton", - "decreased length of anatomical entity in independent continuant", - "abnormal mouth", - "Dental malocclusion", - "perception behavior by means", - "autopodial extension", + "subdivision of tube", "Abnormal oral morphology", - "set of upper jaw teeth", + "Abnormality of multiple cell lineages in the bone marrow", "Abnormality of the dentition", - "anatomical conduit", - "Abnormality of globe size", + "Abnormal number of teeth", + "myeloid cell", + "aplastic secondary dentition", + "abnormally decreased number of anatomical entity in the independent continuant", + "growth", "subdivision of digestive tract", - "abnormal digestive system", - "Long eyelashes", - "abnormal face", - "abnormal size of eyeball of camera-type eye", - "lip", - "Microphthalmia", - "Abnormality of metabolism/homeostasis", - "decreased width of the anatomical entity in independent continuant", - "abnormal mouth morphology", - "abnormal eyelash morphology", - "Abnormality of the palpebral fissures", - "abnormal size of palpebral fissure", - "head or neck skin", - "abnormal ocular adnexa", - "Neoplasm by anatomical site", - "Abnormality of the ocular adnexa", - "deviation of manual digit 1", - "decreased length of palpebral fissure", - "anatomical line between pupils", - "ocular adnexa", - "Abnormality of dental morphology", - "Abnormal internal genitalia", - "decreased width of the palpebral fissure", - "bone of appendage girdle complex", - "Narrow palpebral fissure", - "ecto-epithelium", - "Blepharophimosis", - "visual system", - "obsolete cellular aromatic compound metabolic process", - "immaterial entity", - "eye", - "orbital region", - "skeleton of upper jaw", - "Abnormality of globe location", - "biological_process", - "subdivision of skeleton", - "protein-containing material entity", - "increased size of the anatomical entity in independent continuant", - "Abnormality of head or neck", - "Abnormal eye morphology", - "anatomical line", - "abnormal eyeball of camera-type eye", - "abnormal face morphology", - "abnormal nasal cartilage morphology", - "upper jaw region", - "nasal cartilage", - "increased length of the anatomical entity", - "eyeball of camera-type eye", - "increased anatomical entity length in independent continuant", - "simple eye", - "blood cell", - "erythroid lineage cell", - "behavior", - "Abnormality of speech or vocalization", - "central nervous system", - "Language impairment", - "Abnormal skeletal morphology", - "external soft tissue zone", - "decreased biological_process", - "abnormal connective tissue", - "anatomical entity hypoplasia", + "delayed biological_process", + "Growth delay", + "abnormal biological_process", + "programmed DNA elimination by chromosome breakage", + "abnormal orbital region", + "Abnormal localization of kidney", + "face", + "Growth abnormality", + "delayed growth", + "abnormal size of anatomical entity", + "Decreased head circumference", + "cranial skeletal system", + "Abnormality of the genitourinary system", + "forebrain", + "abnormal forebrain morphology", + "Eukaryota", + "Eumetazoa", + "abnormal skull morphology", "Abnormality of the mouth", - "nasal cartilage hypoplasia", - "Abnormality of connective tissue", - "cartilage element", - "Neurodevelopmental delay", - "decreased size of the anatomical entity in the independent continuant", - "Abnormal morphology of the nasal alae", - "tube", - "abnormal digestive system morphology", - "decreased length of anatomical entity", - "abnormal nose morphology", - "jaw region", - "neural crest-derived structure", - "Abnormal cellular phenotype", - "Abnormality of the orbital region", - "entire sense organ system", - "abnormal hairline", - "abnormal cellular process", - "olfactory organ", - "Abnormal cartilage morphology", - "abnormal nose", - "abnormal dentition", - "camera-type eye", - "Underdeveloped nasal alae", + "abnormal size of skull", + "abnormal telencephalon morphology", + "dorsal region element", + "Abnormality of skull size", + "Abnormal oral cavity morphology", + "abnormal head morphology", + "tooth-like structure", + "Abnormality of head or neck", + "body proper", + "regional part of brain", + "aplasia or hypoplasia of telencephalon", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal craniocervical region morphology", + "kidney", + "regional part of nervous system", + "visual system", + "abnormal anatomical entity morphology in the brain", + "Abnormal skull morphology", + "abnormal kidney morphology", + "main body axis", + "subdivision of organism along main body axis", + "multi-tissue structure", + "Abnormality of the musculoskeletal system", + "cellular organisms", + "abnormal digit", + "bodily fluid", + "aplasia or hypoplasia of anatomical entity", + "Aplasia/hypoplasia involving the skeleton", "anatomical entity", - "ala of nose", - "manual digit 1 plus metapodial segment", - "telencephalon", - "Abnormal nasal cartilage morphology", - "abnormal external nose morphology", - "abnormal anatomical entity length", - "Abnormal nasal morphology", - "skeletal tissue", - "connective tissue", + "Aplasia/hypoplasia involving bones of the upper limbs", + "bone marrow cell", + "system", + "aplasia or hypoplasia of manual digit 1", + "Abnormality of limbs", + "regulation of cellular metabolic process", + "regulation of metabolic process", + "Abnormality of limb bone morphology", + "abnormal brain ventricle/choroid plexus morphology", "brain", - "head connective tissue", - "limb", - "lateral structure", - "anatomical entity hypoplasia in independent continuant", - "Abnormality of the nose", - "abnormal eyelid morphology", - "Abnormal nasal bridge morphology", - "increased size of the anatomical entity", - "abnormal breast", - "abnormal skin of body", - "palpebral fissure", - "abnormal ala of nose morphology", - "Abnormality of skin adnexa morphology", - "subdivision of head", + "abnormal anatomical entity morphology in the independent continuant", + "limb segment", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal mouth", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "limb endochondral element", + "genitourinary system", + "forelimb skeleton", + "abnormal number of anatomical enitites of type anatomical entity", + "limb bone", + "Abnormal finger morphology", + "abnormally formed cerebellum", + "absent anatomical entity in the limb", + "Abnormality of the skeletal system", + "abnormal metencephalon morphology", + "Abnormal forearm bone morphology", "abnormal digit morphology", - "cellular component organization or biogenesis", - "Phenotypic abnormality", - "Abnormality of the face", - "pilosebaceous unit", - "Abnormal eyelash morphology", - "Growth abnormality", - "Abnormal communication", - "non-connected functional system", - "abnormal biological_process", - "Abnormal cellular physiology", - "multi-tissue structure", - "skin of body", - "integumental system", - "epithelium", - "response to stimulus", - "abnormal limb", - "abnormal spatial pattern of anatomical entity", - "Abnormal cerebral morphology", + "Abnormal forebrain morphology", + "abnormal appendicular skeleton morphology", + "multi-limb segment region", + "endochondral element", + "digit", + "abnormal arm", + "absent anatomical entity in the forelimb", + "Tethered cord", + "excretory system", + "Abnormal curvature of the vertebral column", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "Abnormal cerebellum morphology", + "digit 1 plus metapodial segment", + "head", + "Abnormality of limb bone", + "Neurodevelopmental delay", + "pectoral appendage", + "absent anatomical entity", + "brain ventricle", + "aplastic manual digit 1", + "abnormal growth", + "independent continuant", + "organic cyclic compound metabolic process", + "segment of autopod", + "postcranial axial skeletal system", + "paired limb/fin skeleton", + "Abnormal cerebrospinal fluid morphology", + "Abnormal thumb morphology", + "phenotype by ontology source", + "skeletal system", + "root", + "appendage", + "tube", + "abnormal manual digit 1 morphology", "organ subunit", - "paired limb/fin segment", - "Abnormality of the integument", - "Aplasia/Hypoplasia affecting the eye", + "Cognitive impairment", "anatomical space", - "oral cavity", - "system", - "Abnormal forebrain morphology", - "abnormal spatial pattern of strand of hair", - "Sparse hair", - "abnormality of anatomical entity physiology", - "cutaneous appendage", - "integument", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormal lip morphology", - "chest", + "paired limb/fin", + "digestive system", + "upper limb segment", + "appendicular skeleton", + "abnormal anatomical entity morphology in the manus", + "manual digitopodium region", + "abnormal forelimb morphology", + "Aplasia/Hypoplasia affecting the eye", + "abnormal hematopoietic system morphology", + "abnormal dentition", + "Abnormal nervous system physiology", + "subdivision of trunk", + "absent manual digit", + "abnormal phenotype by ontology source", + "cerebrospinal fluid", + "Abnormal cell morphology", + "phenotype", + "nucleobase-containing compound metabolic process", + "abnormal hindbrain morphology", + "absent digit", + "Abnormality of the eye", + "abnormal upper urinary tract", + "mouth", + "musculoskeletal system", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "Abnormal eye morphology", + "manual digit", + "Abnormal morphology of the radius", + "Neurodevelopmental abnormality", + "subdivision of organism along appendicular axis", + "Abnormality of mental function", + "organic substance metabolic process", + "Abnormal cellular physiology", + "Pelvic kidney", + "abnormality of nervous system physiology", + "skeleton of manus", + "lateral structure", "digestive tract", - "skin epidermis", - "abnormal integument", - "axial skeletal system", - "outer epithelium", - "Growth delay", - "abnormal location of eyeball of camera-type eye", - "abnormal skin epidermis morphology", + "process", "hematopoietic system", - "abnormal forebrain morphology", - "abnormal pilosebaceous unit morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "axial skeleton plus cranial skeleton", - "Abnormal hair quantity", - "abnormal response to stimulus", - "abnormal cartilage element morphology", - "anatomical entity hypoplasia in face", - "abnormal skin of body morphology", - "abnormal strand of hair", - "naris", - "female reproductive system", - "integumentary projection", - "Abnormality of the musculoskeletal system", - "abnormal size of skull", - "abnormal number of anatomical enitites of type strand of hair", - "anatomical projection", - "surface structure", - "Abnormal upper lip morphology", - "nervous system process", - "body proper", - "Deviation of the thumb", + "multicellular organism", + "absent anatomical entity in the multicellular organism", + "agenesis of anatomical entity", + "abnormal face", + "autopodial extension", + "Bone marrow hypocellularity", "skeletal element", - "Abnormality of mental function", - "Abnormality of the head", - "Aplasia/Hypoplasia of the cerebrum", - "endochondral element", - "Abnormality of the scalp hair", - "immaterial anatomical entity", - "programmed DNA elimination by chromosome breakage", - "organism subdivision", + "zeugopod", + "negative regulation of gene expression", + "Phenotypic abnormality", + "Abnormality of the hand", + "Abnormal appendicular skeleton morphology", + "Delayed ability to walk", + "material entity", + "abnormal cerebellum morphology", "skeleton", - "aplasia or hypoplasia of eyeball of camera-type eye", + "nervous system process", + "abnormal number of anatomical enitites of type secondary dentition", + "system process", + "anatomical collection", + "All", + "Abnormal cerebral ventricle morphology", + "Abnormal upper limb bone morphology", + "Abnormal hindbrain morphology", + "renal system", + "nervous system", + "abnormal limb bone morphology", + "cellular process", "Abnormal digit morphology", - "Abnormality of skull size", - "abnormal female reproductive system morphology", - "genitourinary system", - "Abnormal nervous system morphology", - "protein-containing complex organization", - "abnormal genitourinary system", - "abnormal axial skeleton plus cranial skeleton morphology", - "organ", - "protein-DNA complex organization", - "Abnormality of body weight", - "abnormal telencephalon morphology", - "obsolete cellular nitrogen compound metabolic process", - "Abnormality of the hand", - "subdivision of organism along main body axis", - "Delayed speech and language development", - "skull", - "facial skeleton", + "decreased size of the anatomical entity", + "cognition", + "ventricular system of brain", + "anatomical structure", + "abnormal manus", + "abnormally increased number of brain ventricle in the independent continuant", "organism", - "face", - "Microcephaly", - "abnormal craniocervical region", - "appendicular skeletal system", - "abnormal cellular component organization", - "cranial skeletal system", - "skin of eyelid", - "abnormality of nervous system physiology", - "anterior region of body", - "abnormal palpebral fissure", - "Abnormal reproductive system morphology", - "Morphological central nervous system abnormality", - "cartilage tissue", - "Eukaryota", - "forebrain", - "DNA metabolic process", - "morphological feature", - "obsolete cell", - "Epicanthus", - "deviation of anatomical entity", - "Ovarian carcinoma", - "occurrent", + "autopod region", + "biological_process", + "Finger aplasia", + "entire sense organ system", + "continuant", + "manual digit 1 plus metapodial segment", + "obsolete cellular aromatic compound metabolic process", + "multicellular organismal process", "abnormal skeletal system morphology", - "anatomical collection", - "abnormal skull morphology", - "Anteverted nares", - "regional part of brain", - "digit 1", - "abnormal head", - "regional part of nervous system", - "anatomical cavity", - "appendicular skeleton", - "prominent upper lip", - "Abnormal axial skeleton morphology", - "abnormal size of anatomical entity", - "abnormal behavior process", - "abnormal external naris", - "Tooth malposition", - "integumentary adnexa", - "abnormal organelle organization", - "abnormal head morphology", - "head", - "process", - "organ system subdivision", - "Neurodevelopmental abnormality", - "Abnormal skull morphology", - "chromatin organization", - "sensory system", + "protein-containing material entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "organ part", + "forelimb endochondral element", + "multicellular anatomical structure", + "Scoliosis", + "forelimb zeugopod", + "abnormal nervous system", + "manual digit 1 or 5", "Neoplasm", - "system process", - "skeletal system", - "abnormal autopod region morphology", - "increased length of the eyelash", - "ectoderm-derived structure", - "abnormal ovary", - "multi organ part structure", - "structure with developmental contribution from neural crest", - "Abnormality of chromosome stability", - "regulation of macromolecule biosynthetic process", + "upper urinary tract", + "Anal atresia", + "digit plus metapodial segment", + "skeleton of limb", + "material anatomical entity", + "segmental subdivision of hindbrain", + "brain ventricle/choroid plexus", + "anatomical system", + "quality", + "abnormal manus morphology", + "pectoral appendage skeleton", + "manual digit plus metapodial segment", + "abnormal limb long bone morphology", + "radius endochondral element", + "regulation of cellular biosynthetic process", "biological regulation", - "main body axis", - "cellular organisms", - "abnormal forelimb morphology", - "Genital neoplasm", - "decreased width of the anatomical entity", - "abnormal craniocervical region morphology", - "paired limb/fin skeleton", - "postcranial axial skeletal system", - "All", - "segment of autopod", - "Eumetazoa", - "phenotype", - "Abnormal hair morphology", - "phenotype by ontology source", - "cell", - "abnormal integumentary adnexa morphology", - "aplasia or hypoplasia of telencephalon", - "abnormal brain morphology", + "Abnormality of globe size", + "Intellectual disability", + "abnormal digestive system morphology", + "bone marrow", + "acropodium region", + "Aplasia/hypoplasia of the extremities", "forelimb", - "abnormal chromatin organization", - "abnormal DNA metabolic process", - "Abnormal scalp morphology", - "internal female genitalia", - "metabolic process", - "cellular process", - "Prominent nasal bridge", - "Abnormality of the female genitalia", - "abnormal primary metabolic process", - "abnormal nitrogen compound metabolic process", - "Abnormal thumb morphology", - "regulation of biological process", - "Abnormality of brain morphology", - "abnormal programmed DNA elimination by chromosome breakage", - "Abnormal external nose morphology", + "Abnormal skeletal morphology", + "aplasia or hypoplasia of manual digit", + "digit 1", + "obsolete heterocycle metabolic process", + "erythroid lineage cell", + "Abnormal axial skeleton morphology", + "postcranial axial skeleton", + "bone of free limb or fin", + "abnormal autopod region morphology", + "Absent thumb", + "anterior region of body", + "aplastic anatomical entity", + "autopodial skeleton", + "bone element", + "sense organ", + "abnormal limb bone", + "Abnormal nervous system morphology", + "abnormal immune system morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "manual digit 1", + "Abnormality of metabolism/homeostasis", + "abnormal anus morphology", + "organism subdivision", + "occurrent", + "organ", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "bone of pectoral complex", "entity", - "Abnormal facial shape", - "acropodium region", - "abnormal cellular metabolic process", - "abnormality of multicellular organism height", - "Aplasia/Hypoplasia involving the nose", + "subdivision of skeletal system", + "Delayed gross motor development", + "subdivision of skeleton", + "endochondral bone", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal head", + "arm", + "Abnormal myeloid cell morphology", + "digit 1 or 5", + "bone cell", + "Aplasia/Hypoplasia of the thumb", + "regulation of biosynthetic process", + "absent anatomical entity in the independent continuant", + "Neoplasm by anatomical site", + "cell", + "limb", + "Abnormality of the upper limb", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "trunk region element", + "pectoral complex", + "eye", "Opisthokonta", - "regulation of metabolic process", - "non-material anatomical boundary", + "paired limb/fin segment", + "appendicular skeletal system", + "skeleton of pectoral complex", + "limb skeleton subdivision", + "abnormal forelimb zeugopod bone", + "abnormal manual digit morphology in the independent continuant", + "manus", + "abnormal limb", "Abnormality of digestive system morphology", - "behavior process", - "negative regulation of biological process", - "macromolecule metabolic process", - "prominent nasal bridge", - "obsolete heterocycle metabolic process", - "quality", - "aplasia or hypoplasia of anatomical entity", - "abnormal orbital region", - "orifice", - "regulation of cellular metabolic process", - "subdivision of skeletal system", - "sense organ", - "abnormal postcranial axial skeleton morphology", - "deviation of digit towards the middle", - "Abnormal eyelid morphology", - "hematopoietic cell", - "Decreased head circumference", - "Abnormal erythrocyte morphology", - "nucleic acid metabolic process", - "organelle organization", - "ovary", - "abnormal phenotype by ontology source", - "Gonadal neoplasm", - "regulation of biosynthetic process", - "decreased qualitatively growth", - "Abnormality of the eye", - "abnormal ocular adnexa morphology", - "strand of hair", - "internal genitalia", - "programmed DNA elimination", + "Microphthalmia", "abnormal skeletal system", - "cellular metabolic process", - "limb segment", - "abnormal anatomical entity topology in independent continuant", - "negative regulation of gene expression", - "Abnormal oral cavity morphology", - "Abnormal ocular adnexa morphology", - "Abnormal size of the palpebral fissures", - "postcranial axial skeleton", - "anatomical structure", - "Chromosome breakage", - "digit 1 or 5", - "Intellectual disability", - "negative regulation of metabolic process", - "abnormal camera-type eye morphology", - "decreased size of the anatomical entity", - "musculoskeletal system", - "multicellular anatomical structure", - "craniocervical region", - "female organism", - "cognition", - "regulation of cellular process", - "Ataxia", - "nucleobase-containing compound metabolic process", - "Metazoa", - "Cognitive impairment", - "abnormal behavior", - "abnormal nervous system", + "macromolecule metabolic process", + "appendage girdle complex", + "Localized skin lesion", + "immaterial entity", + "Abnormal hand morphology", + "abnormal limb morphology", + "forelimb zeugopod skeleton", + "mesoderm-derived structure", + "cerebellum", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "abnormal closing of the anatomical entity", + "Hydrocephalus", + "malformed anatomical entity", + "Morphological central nervous system abnormality", + "cavitated compound organ", + "abnormal brain morphology", + "bone of appendage girdle complex", + "anatomical wall", + "organ component layer", + "organism substance", + "Microcephaly", + "abnormal forelimb zeugopod morphology", + "central nervous system", + "ventricular system of central nervous system", + "abnormal anus", + "Chiari malformation", + "anatomical conduit", + "Abnormality of the head", + "abnormally increased number of anatomical entity", + "Abnormality of the urinary system", + "transudate", + "forelimb bone", + "skull", + "abnormal cerebrospinal fluid morphology", + "abnormal brain ventricle morphology", + "abnormally formed anatomical entity in independent continuant", + "oral cavity", + "dysgenesis of the radius bone", + "Abnormality of chromosome stability", + "abnormal kidney", "abnormal central nervous system morphology", - "root", - "Abnormality of the nervous system", - "Abnormal nervous system physiology", - "abnormality of anatomical entity mass", - "bone element", - "abnormal cell", - "Upslanted palpebral fissure", - "disconnected anatomical group", - "abnormal cartilage tissue morphology", - "female reproductive organ", - "Aplasia/Hypoplasia involving the central nervous system", - "mouth", - "Abnormality of the digestive system", - "Atypical behavior", - "abnormal skin of head morphology", - "organ part", - "abnormal internal genitalia", + "craniocervical region", + "abnormal long bone morphology", + "abnormal cell morphology", + "abnormal nervous system morphology", + "Tooth agenesis", + "Abnormal cerebral morphology", "specifically dependent continuant", - "Low anterior hairline", - "eyelash", "abnormal anatomical entity morphology", - "breast", - "primary metabolic process", - "cellular component organization", - "Abnormality of the ovary", - "manual digit 1 or 5", - "abnormal reproductive system", - "reproductive structure", - "negative regulation of cellular process", - "nervous system", - "material entity", - "changed biological_process rate", - "abnormal metabolic process", - "Decreased anatomical entity mass", - "Abnormality of skin morphology", - "multicellular organismal process", - "material anatomical entity", - "abnormal skin of face morphology", - "organic substance metabolic process", - "negative regulation of macromolecule metabolic process", - "abnormal upper lip morphology", - "increased length of the anatomical line between pupils", - "abnormal nervous system morphology", - "reproductive system", - "nose", - "deviation of manual digit", - "external integument structure", - "obsolete nitrogen compound metabolic process", - "continuant", - "regulation of macromolecule metabolic process", - "segment of manus", - "abnormal anatomical entity morphology in the independent continuant", - "eyelid", - "Abnormality of upper lip vermillion", - "independent continuant", - "increased size of the calcareous tooth", - "negative regulation of cellular metabolic process", - "skin of face", - "appendage girdle complex", - "decreased size of the eyeball of camera-type eye", - "Ovarian neoplasm", - "digit", - "Abnormality of the skeletal system", - "Abnormality of the skin", - "negative regulation of macromolecule biosynthetic process", - "Abnormality of the genitourinary system", - "Abnormal hair pattern", - "negative regulation of cellular biosynthetic process", - "Hypertelorism", - "anatomical system", - "organic cyclic compound metabolic process", - "Clinodactyly", - "Neoplasm of the genitourinary tract", - "abnormal anatomical entity morphology in the brain", - "abnormal internal female genitalia morphology", - "abnormal reproductive system morphology", - "negative regulation of biosynthetic process", - "regulation of cellular biosynthetic process", - "abnormal oral cavity morphology", - "reproductive organ", - "Short palpebral fissure", - "abnormal location of anatomical entity", - "Abnormal morphology of female internal genitalia", - "paired limb/fin", - "abnormal lip morphology", - "Abnormality of the hairline", + "arm bone", + "ventricle of nervous system", + "axial skeletal system", + "Radial dysplasia", + "Abnormal long bone morphology", + "abnormal radius bone morphology", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "long bone", + "abnormal DNA metabolic process", + "blood cell", + "abnormal manual digit morphology in the manus", + "radius bone", + "forelimb long bone", + "obsolete cell", + "compound organ", + "zeugopodial skeleton", + "limb long bone", + "dysgenesis of the anatomical entity", + "subdivision of head", + "Abnormality of brain morphology", + "forelimb zeugopod bone", + "metencephalon", + "abnormal digestive system", "abnormal anatomical entity", - "gonad", - "external nose", - "increased length of the epicanthal fold", - "abnormal hematopoietic cell morphology", - "abnormal limb morphology", - "Coarse facial features", - "regulation of gene expression", - "increased length of the strand of hair", - "abnormal female reproductive organ morphology", - "abnormal female reproductive system", - "upper eyelid", - "decreased growth", + "Abnormal forearm morphology", + "abnormal cellular metabolic process", + "abnormal bone of pectoral complex morphology", + "trunk", + "Abnormality of the vertebral column", "tissue", - "multicellular organism", - "Abnormality of the genital system" + "abnormal axial skeleton plus cranial skeleton morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal oral cavity morphology", + "telencephalon", + "vertebral column", + "Abnormal bone structure", + "abnormal vertebral column", + "erythrocyte", + "organ system subdivision", + "Abnormality of the anus", + "regulation of macromolecule metabolic process", + "Abnormality of the digestive system", + "anus", + "protein-DNA complex organization", + "Abnormal anus morphology", + "DNA metabolic process", + "orifice", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "immaterial anatomical entity", + "anus atresia", + "sensory system", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Aplasia/Hypoplasia of the cerebrum", + "Chiari type I malformation", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "Metazoa" ], - "has_phenotype_count": 30, + "has_phenotype_count": 18, "highlight": null, "score": null } diff --git a/frontend/src/pages/metadata.json b/frontend/src/pages/metadata.json index 63997b8f3..7139acb3b 100644 --- a/frontend/src/pages/metadata.json +++ b/frontend/src/pages/metadata.json @@ -3,7 +3,7 @@ { "label": "Genes", "icon": "category-gene", - "count": 566884 + "count": 571067 }, { "label": "Phenotypes", @@ -18,7 +18,7 @@ { "label": "Total Nodes", "icon": "node", - "count": 2364027 + "count": 1011016 } ], "association": [ @@ -26,24 +26,24 @@ "label": "Gene to Disease", "icon": "category-gene", "icon2": "category-disease", - "count": 15327 + "count": 15288 }, { "label": "Gene to Phenotype", "icon": "category-gene", "icon2": "category-phenotypic-quality", - "count": 935880 + "count": 938065 }, { "label": "Disease to Phenotype", "icon": "category-disease", "icon2": "category-phenotypic-quality", - "count": 247372 + "count": 249143 }, { "label": "Total Associations", "icon": "association", - "count": 12606156 + "count": 11196392 } ] }