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merged pseudohypoaldosteronism, type I and ~type1 (#8032)
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* merged pseudohypoaldosteronism, type I and ~type1

Closes #7273

Please see the comment in the issue to see what was done

* Update mondo-edit.obo

* updated OMIMPS source

OMIMPS is not obsolete, based on : https://www.omim.org/phenotypicSeries/PS177735
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sabrinatoro authored Aug 12, 2024
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9 changes: 8 additions & 1 deletion src/ontology/components/mondo-tags.owl
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<!-- http://purl.obolibrary.org/obo/MONDO_0957319 -->

<owl:Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0957319"/>




<!-- http://purl.obolibrary.org/obo/MONDO_0957400 -->

<owl:Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0957400">
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<!-- Generated by the OWL API (version 4.5.29) https://github.com/owlcs/owlapi -->
<!-- Generated by the OWL API (version 4.5.26.2023-07-17T20:34:13Z) https://github.com/owlcs/owlapi -->

46 changes: 24 additions & 22 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -216731,26 +216731,26 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/

[Term]
id: MONDO:0009917
name: autosomal recessive pseudohypoaldosteronism type 1
name: pseudohypoaldosteronism, type IB1, autosomal recessive
def: "Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs." [Orphanet:171876]
subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="GARD:4552", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_subtype_of_a_disorder {source="Orphanet:171876"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "autosomal recessive PHA 1" EXACT [DOID:0060854]
synonym: "autosomal recessive PHA 1" EXACT [Orphanet:171876]
synonym: "autosomal recessive pseudohypoaldosteronism type 1" EXACT [Orphanet:171876]
synonym: "generalised PHA1" RELATED OMO:0003005 []
synonym: "generalised pseudohypoaldosteronism type 1" RELATED OMO:0003005 []
synonym: "generalized PHA1" RELATED [GARD:0004552]
synonym: "generalized pseudohypoaldosteronism type 1" RELATED [GARD:0004552]
synonym: "generalised PHA1" EXACT OMO:0003005 []
synonym: "generalised pseudohypoaldosteronism type 1" EXACT OMO:0003005 []
synonym: "generalized PHA1" EXACT [GARD:0004552, Orphanet:171876]
synonym: "generalized pseudohypoaldosteronism type 1" EXACT [GARD:0004552, Orphanet:171876]
synonym: "PHA I, autosomal recessive" RELATED [OMIM:264350]
synonym: "PHA1B" EXACT ABBREVIATION [DOID:0060854, MONDO:Lexical, OMIM:264350]
synonym: "PHA1B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:264350]
synonym: "pseudohypoaldosteronism type 1 autosomal recessive" RELATED [GARD:0004552]
synonym: "pseudohypoaldosteronism type 1, recessive" RELATED [GARD:0004552]
synonym: "pseudohypoaldosteronism, type I, autosomal recessive" RELATED [MONDO:Lexical, OMIM:264350]
xref: DOID:0060854 {source="MONDO:equivalentTo"}
xref: DOID:0060854 {source="MONDO:mondoIsNarrowerThanSource"}
xref: GARD:4552 {source="MONDO:GARD"}
xref: ICD10CM:N25.8 {source="Orphanet:171876/attributed", source="Orphanet:171876/ntbt", source="DOID:0060854", source="Orphanet:171876"}
xref: MEDGEN:1823950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
Expand Down Expand Up @@ -433784,16 +433784,17 @@ is_a: MONDO:0021095 ! parkinsonian disorder
[Term]
id: MONDO:0019161
name: pseudohypoaldosteronism type 1
def: "Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration." [Orphanet:756]
def: "A rare, primary form of mineralocorticoid resistance characterized by mild to profound salt wasting either restricted to the kidney (renal pseudohypoaldosteronism type 1), or generalized affecting many organs (generalized pseudohypoaldosteronism type 1). Clinical presentation is in the neonatal period with failure to thrive, vomiting and dehydration with biochemical findings of hyperkalaemia, metabolic acidosis and, elevated plasma aldosterone and renin concentration." [Orphanet:756]
subset: gard_rare {source="GARD:16545", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:756"}
subset: orphanet_rare {source="Orphanet:756"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "PHA type 1" EXACT [Orphanet:756]
synonym: "PHA1B" EXACT ABBREVIATION [NCIT:C123251]
synonym: "pseudohypoaldosteronism type I autosomal recessive" EXACT [NCIT:C123251]
synonym: "PHA1B" NARROW ABBREVIATION [NCIT:C123251]
synonym: "pseudohypoaldosteronism type I autosomal recessive" NARROW [NCIT:C123251]
synonym: "pseudohypoaldosteronism, type I" EXACT [MONDO:0957319]
xref: GARD:16545 {source="MONDO:GARD"}
xref: ICD10CM:N25.8 {source="Orphanet:756/attributed", source="Orphanet:756/ntbt", source="Orphanet:756"}
xref: icd11.foundation:1576878036 {source="Orphanet:756", source="MONDO:equivalentTo"}
Expand All @@ -433802,11 +433803,17 @@ xref: MEDGEN:82805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:D011546 {source="Orphanet:756", source="Orphanet:756/e"}
xref: NANDO:2200368 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"}
xref: NCIT:C123251 {source="MONDO:equivalentTo"}
xref: OMIMPS:177735 {source="MONDO:equivalentTo"}
xref: Orphanet:756 {source="MONDO:equivalentTo"}
xref: SCTID:43941006 {source="MONDO:equivalentTo"}
xref: UMLS:C0268436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82805"}
is_a: MONDO:0003847 {source="OMIMPS:177735"} ! hereditary disease
is_a: MONDO:0015962 {source="Orphanet:756"} ! inherited renal tubular disease
is_a: MONDO:0018638 {source="NCIT:C123251", source="Orphanet:756"} ! pseudohypoaldosteronism
is_a: MONDO:0100323 {source="OMIMPS:177735"} ! inherited pseudohypoaldosteronism
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:177735"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7273" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7766" xsd:anyURI

[Term]
id: MONDO:0019162
Expand Down Expand Up @@ -555167,6 +555174,7 @@ xref: MEDGEN:1824028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620125 {source="MONDO:equivalentTo"}
xref: UMLS:C5774255 {source="MONDO:equivalentTo", source="MEDGEN:1824028", source="MONDO:MEDGEN"}
is_a: MONDO:0018638 {source="OMIM:620125"} ! pseudohypoaldosteronism
is_a: MONDO:0019161 {source="OMIM:620125"} ! pseudohypoaldosteronism type 1
relationship: has_characteristic HP:0000007 {source="https://orcid.org/0000-0001-5208-3432"} ! Autosomal recessive inheritance

[Term]
Expand All @@ -555178,6 +555186,7 @@ xref: MEDGEN:1824029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620126 {source="MONDO:equivalentTo"}
xref: UMLS:C5774256 {source="MEDGEN:1824029", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0018638 {source="OMIM:620126"} ! pseudohypoaldosteronism
is_a: MONDO:0019161 {source="OMIM:620126"} ! pseudohypoaldosteronism type 1
relationship: has_characteristic HP:0000007 {source="https://orcid.org/0000-0001-5208-3432"} ! Autosomal recessive inheritance

[Term]
Expand Down Expand Up @@ -557283,18 +557292,11 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:167030"} ! inheri

[Term]
id: MONDO:0957319
name: pseudohypoaldosteronism, type I
comment: Reason: duplicate. This will be merged with MONDO:0019161 pseudohypoaldosteronism type 1
subset: gard_rare {source="MONDO:GARD"}
subset: obsoletion_candidate
subset: rare
xref: OMIMPS:177735 {source="MONDO:equivalentObsolete"}
is_a: MONDO:0003847 {source="OMIMPS:177735"} ! hereditary disease
is_a: MONDO:0100323 {source="OMIMPS:177735"} ! inherited pseudohypoaldosteronism
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:177735"} ! inherited
name: obsolete pseudohypoaldosteronism, type I
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7273" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7766" xsd:anyURI
property_value: IAO:0006012 "2024-05-01" xsd:string
is_obsolete: true
replaced_by: MONDO:0019161

[Term]
id: MONDO:0957337
Expand Down

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