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split term: OMIMPS terms #4864

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nicolevasilevsky opened this issue Apr 25, 2022 · 0 comments · Fixed by #4989
Closed

split term: OMIMPS terms #4864

nicolevasilevsky opened this issue Apr 25, 2022 · 0 comments · Fixed by #4989
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on list Added to the obosletion or merge candidate list. split requests for term splits
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July release

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nicolevasilevsky commented Apr 25, 2022 •
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Obsolete
[Term]
id: MONDO:0010143
name: obsolete lethal restrictive dermopathy
relationship: seeAlso #4864
is_obsolete: true
replaced_by: MONDO:0800042

[Term]
id: MONDO:0011108
name: Stüve-Wiedemann syndrome
relationship: seeAlso #4521
relationship: seeAlso #4864
is_obsolete: true
replaced_by: MONDO:0800043

[Term]
id: MONDO:0014109
name: obsolete NGLY1-deficiency
relationship: seeAlso #4521
relationship: seeAlso #4864
is_obsolete: true
replaced_by: MONDO:0800044

[Term]
id: MONDO:0014761
name: hereditary pediatric Behçet-like disease
relationship: seeAlso #4864
is_obsolete: true
replaced_by: MONDO:0800045

Add new terms:

[Term]
id: MONDO:0031213
name: restrictive dermopathy
xref: OMIMPS:275210 {source="MONDO:equivalentTo"} ! restrictive dermopathy
relationship: has_modifier MONDO:0021152 {source="OMIMPS:275210"} ! inherited

[Term]
id: MONDO:0031280
name: Stuve-Wiedemann syndrome
xref: OMIMPS:601559 {source="MONDO:equivalentTo"} ! stuve-wiedemann syndrome
relationship: has_modifier MONDO:0021152 {source="OMIMPS:601559"} ! inherited

[Term]
id: MONDO:0031376
name: congenital disorder of deglycosylation
xref: OMIMPS:615273 {source="MONDO:equivalentTo"} ! congenital disorder of deglycosylation
relationship: has_modifier MONDO:0021152 {source="OMIMPS:615273"} ! inherited

[Term]
id: MONDO:0031384
name: autoinflammatory syndrome, familial, Behcet-like
xref: OMIMPS:616744 {source="MONDO:equivalentTo"} ! autoinflammatory syndrome, familial, behcet-like
relationship: has_modifier MONDO:0021152 {source="OMIMPS:616744"} ! inherited

[Term]
id: MONDO:0800042
name: restrictive dermopathy 1
def: "A a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities." [Orphanet:1662, https://orcid.org/0000-0001-5208-3432]
subset: ordo_disease {source="Orphanet:1662"}
synonym: "fetal hypokinesia sequence due to restrictive dermopathy" EXACT [OMIM:275210]
synonym: "hyperkeratosis-contracture syndrome" EXACT [DOID:0060762, OMIM:275210, Orphanet:1662]
synonym: "lethal restrictive dermopathy" EXACT [DOID:0060762, Orphanet:1662]
synonym: "restrictive dermopathy" RELATED [Orphanet:1662]
synonym: "restrictive dermopathy 1, lethal" EXACT [OMIM:275210]
synonym: "tight skin contracture syndrome" EXACT [DOID:0060762, Orphanet:1662]
synonym: "tight skin contracture syndrome, lethal" EXACT [OMIM:275210]
xref: DOID:0060762 {source="MONDO:equivalentTo"}
xref: GARD:0001516 {source="MONDO:Orphanet-shared", source="MONDO:equivalentTo", source="MONDO:OMIM-shared"}
xref: ICD10CM:Q82.8 {source="Orphanet:1662", source="Orphanet:1662/attributed", source="Orphanet:1662/ntbt", source="DOID:0060762"}
xref: MESH:C536920 {source="MONDO:equivalentTo"}
xref: OMIM:275210 {source="Orphanet:1662", source="DOID:0060762", source="MONDO:equivalentTo", source="Orphanet:1662/e"}
xref: Orphanet:1662 {source="DOID:0060762", source="MONDO:equivalentTo", source="OMIM:275210"}
xref: SCTID:400128006 {source="MONDO:equivalentTo"}
xref: UMLS:C0406585 {source="Orphanet:1662", source="DOID:0060762", source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="Orphanet:1662/e", source="OMIM:275210"}
is_a: MONDO:0015160 {source="MONDO:indirect", source="Orphanet:1662"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a: MONDO:0021106 {source="Wikipedia:Laminopathy"} ! laminopathy
is_a: MONDO:0043007 {source="MONDO:Redundant", source="Orphanet:1662"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
relationship: seeAlso #4864

[Term]
id: MONDO:0800043
name: Stüve-Wiedemann syndrome 1
def: "A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality." [Orphanet:3206]
subset: ordo_malformation_syndrome {source="Orphanet:3206"}
synonym: "neonatal Schwartz-Jampel syndrome" EXACT [Orphanet:3206]
synonym: "neonatal Schwartz-Jampel syndrome type 2" RELATED [GARD:0005045]
synonym: "Schwartz-Jampel syndrome neonatal" EXACT [GARD:0005045]
synonym: "Schwartz-Jampel syndrome, neonatal" EXACT [OMIM:601559]
synonym: "Schwartz-Jampel syndrome type 2" EXACT [Orphanet:3206]
synonym: "Schwartz-Jampel syndrome, neonatal" EXACT [OMIM:601559]
synonym: "Schwartz-Jampel syndrome, type 2" RELATED [OMIM:601559]
synonym: "SJS2" EXACT ABBREVIATION [Orphanet:3206]
synonym: "STUVE-Wiedemann syndrome" RELATED [OMIM:601559]
synonym: "Stuve-Wiedemann syndrome" EXACT CLINGEN_PREFERRED []
synonym: "Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome" EXACT [OMIM:601559, OMIM:genemap2]
synonym: "Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome" RELATED [OMIM:601559]
synonym: "STWS" EXACT ABBREVIATION [OMIM:601559]
synonym: "SWS" EXACT ABBREVIATION [OMIM:601559]
synonym: "Stüve-Wiedemann dysplasia" EXACT [Orphanet:3206]
synonym: "Stüve-Wiedemann syndrome" EXACT [Orphanet:3206]
synonym: "Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome" EXACT [Orphanet:3206]
xref: GARD:0005045 {source="MONDO:Orphanet-shared", source="MONDO:equivalentTo", source="MONDO:OMIM-shared"}
xref: ICD10CM:Q78.8 {source="Orphanet:3206", source="Orphanet:3206/attributed", source="Orphanet:3206/ntbt"}
xref: MESH:C537502 {source="MONDO:equivalentTo", source="Orphanet:3206", source="Orphanet:3206/e"}
xref: OMIM:601559 {source="MONDO:equivalentTo", source="Orphanet:3206", source="Orphanet:3206/e"}
xref: Orphanet:3206 {source="MONDO:equivalentTo", source="OMIM:601559"}
xref: SCTID:254097005 {source="MONDO:equivalentTo"}
xref: UMLS:C0432240 {source="MONDO:equivalentTo", source="Orphanet:3206", source="Orphanet:3206/e"}
xref: UMLS:C0796176 {source="MONDO:equivalentTo", source="Orphanet:3206", source="MONDO:ncbi_mim2gene_medline", source="OMIM:601559", source="Orphanet:3206/e"}
is_a: MONDO:0009717 {source="OMIM:601559"} ! Schwartz-Jampel syndrome
is_a: MONDO:0019698 {source="Orphanet:3206"} ! bent bone dysplasia
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6597 {source="MONDO:mim2gene_medgen"} ! LIFR
relationship: seeAlso #4521
relationship: seeAlso #4864

[Term]
id: MONDO:0800044
name: congenital disorder of deglycosylation 1
def: "A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities." [NCIT:C126746]
subset: clingen
subset: ordo_disease {source="Orphanet:404454"}
synonym: "alacrimia - choreoathetosis - liver dysfunction syndrome" RELATED [Orphanet:404454]
synonym: "CDDG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615273]
synonym: "CDG IV" RELATED [OMIM:615273]
synonym: "CDG IV, formerly" RELATED [OMIM:615273]
synonym: "congenital disorder of deglycosylation" EXACT [DOID:0060728, MONDO:Lexical, OMIM:615273]
synonym: "congenital disorder of deglycosylation 1" EXACT [OMIM:615273, OMIM:genemap2]
synonym: "congenital disorder of deglycosylation;CDDG" RELATED [GARD:0012315]
synonym: "congenital disorder of glycosylation type IV" RELATED [DOID:0060728]
synonym: "congenital disorder of glycosylation type IV; CDG1V" RELATED [GARD:0012315]
synonym: "congenital disorder of glycosylation, type IV" RELATED [OMIM:615273]
synonym: "congenital disorder of glycosylation, type IV, formerly" RELATED [OMIM:615273]
synonym: "deficiency of N-glycanase 1" EXACT [DOID:0060728]
synonym: "NGLY1 deficiency" EXACT [Orphanet:404454]
synonym: "NGLY1-CDDG" EXACT [DOID:0060728, Orphanet:404454]
synonym: "NGLY1-deficiency" EXACT CLINGEN_PREFERRED []
xref: DOID:0060728 {source="MONDO:equivalentTo"}
xref: GARD:0012315 {source="MONDO:equivalentTo"}
xref: ICD10CM:E77.8 {source="Orphanet:404454/attributed", source="Orphanet:404454/ntbt", source="Orphanet:404454", source="DOID:0060728"}
xref: NCIT:C126746 {source="MONDO:equivalentTo"}
xref: OMIM:615273 {source="Orphanet:404454/e", source="MONDO:equivalentTo", source="Orphanet:404454", source="DOID:0060728"}
xref: Orphanet:404454 {source="MONDO:equivalentTo", source="OMIM:615273", source="DOID:0060728"}
xref: SCTID:768846004 {source="MONDO:equivalentTo"}
xref: UMLS:C3808991 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline", source="OMIM:615273", source="NCIT:C126746"}
is_a: MONDO:0000508 {source="Orphanet:404454"} ! syndromic intellectual disability
is_a: MONDO:0019052 {source="MONDO:0019602-obsoleted"} ! inborn errors of metabolism
is_a: MONDO:0019214 {source="DOID:0060728"} ! inborn carbohydrate metabolic disorder
relationship: disease_has_basis_in_disruption_of GO:0000224 ! peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity
relationship: disease_has_basis_in_disruption_of GO:0006517 ! protein deglycosylation
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17646 {source="MONDO:mim2gene_medgen"} ! NGLY1
relationship: has_modifier MONDO:0021136 {source="MONDO:0015983"} ! rare
relationship: seeAlso #4521
relationship: seeAlso #4864

[Term]
id: MONDO:0800045
name: autoinflammatory syndrome, familial, Behcet-like 1
subset: ordo_disease {source="Orphanet:476102"}
synonym: "AISBL" EXACT ABBREVIATION [OMIM:616744]
synonym: "autoinflammatory syndrome, familial, Behcet-like 1" EXACT [OMIM:616744]
synonym: "Behçet-like disease due to HA20" EXACT [Orphanet:476102]
synonym: "Behçet-like disease due to haploinsufficiency of A20" EXACT [Orphanet:476102]
synonym: "hereditary pediatric Behçet-like disease" EXACT [Orphanet:476102]
xref: OMIM:616744 {source="Orphanet:476102", source="MONDO:equivalentTo"}
xref: Orphanet:476102 {source="MONDO:equivalentTo"}
xref: UMLS:C4225218 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"}
is_a: MONDO:0003847 {source="MONDO:indirect"} ! Mendelian disease
is_a: MONDO:0019751 {source="OMIM:616744"} ! autoinflammatory syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11896 {source="MONDO:mim2gene_medgen"} ! TNFAIP3
relationship: has_modifier MONDO:0021136 {source="MONDO:0021198"} ! rare
relationship: seeAlso #4864
@nicolevasilevsky nicolevasilevsky added the split requests for term splits label Apr 25, 2022
@nicolevasilevsky nicolevasilevsky self-assigned this Apr 25, 2022
@nicolevasilevsky nicolevasilevsky added this to the July release milestone Apr 25, 2022
@nicolevasilevsky nicolevasilevsky added the on list Added to the obosletion or merge candidate list. label May 23, 2022
@nicolevasilevsky nicolevasilevsky mentioned this issue May 26, 2022
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nicolevasilevsky added a commit that referenced this issue Jun 1, 2022
@nicolevasilevsky
split terms (OMIMPS)
3bb198e 
close #4864
@nicolevasilevsky nicolevasilevsky mentioned this issue Jun 1, 2022
Merged
This was referenced Jul 4, 2022
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split terms (OMIMPS) monarch-initiative/mondo
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