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unobsolete MONDO:0016980 and MONDO:0036042 #7049

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merged 2 commits into from
Dec 15, 2023
Merged

unobsolete MONDO:0016980 and MONDO:0036042 #7049

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d85e13a
unobsolete MONDO:0016980 and MONDO:0036042
sabrinatoro Dec 15, 2023
6652070
removed "exactMatch" properties.
sabrinatoro Dec 15, 2023
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36 changes: 18 additions & 18 deletions src/ontology/mondo-edit.obo
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Original file line number Diff line number Diff line change
Expand Up @@ -221209,6 +221209,7 @@ xref: UMLS:C1845055 {source="NCIT:C118631", source="MONDO:equivalentTo", source=
is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C118631", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease
is_a: MONDO:0005039 {source="https://orcid.org/0000-0001-9310-0163"} ! reproductive system disorder
is_a: MONDO:0005151 ! endocrine system disorder
is_a: MONDO:0016980 {source="Orphanet:847"} ! ATR-X-related syndrome
is_a: MONDO:0020040 ! 46,XY disorder of sex development
is_a: MONDO:0020119 {source="https://orcid.org/0000-0001-5208-3432"} ! X-linked syndromic intellectual disability
relationship: has_characteristic HP:0001417 ! X-linked inheritance
Expand Down Expand Up @@ -225591,6 +225592,7 @@ xref: UMLS:C0796003 {source="MONDO:ncbi_mim2gene_medline", source="MONDO:notFoun
xref: UMLS:C4759781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease
is_a: MONDO:0016980 {source="Orphanet:847"} ! ATR-X-related syndrome
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/886 {source="MONDO:mim2gene_medgen"} ! ATRX
property_value: confidence "37.50000000000002" xsd:double
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
Expand Down Expand Up @@ -369723,19 +369725,19 @@ property_value: confidence "2.461538461538462" xsd:double

[Term]
id: MONDO:0016980
name: obsolete ATR-X-related syndrome
synonym: "ATR-X-related syndrome" EXACT CLINGEN_PREFERRED []
xref: Orphanet:263355 {source="MONDO:obsoleteEquivalentObsolete"}
name: ATR-X-related syndrome
comment: The obsoletion of this term has been reversed in the Mondo release of January 2024.
subset: disease_grouping
subset: ordo_group_of_disorders {source="Orphanet:263355"}
synonym: "ATR-X-related syndrome" EXACT []
xref: Orphanet:263355 {source="MONDO:equivalentObsolete"}
xref: UMLS:CN202282 {source="MONDO:equivalentTo"}
is_a: MONDO:0020119 {source="https://clinicalgenome.org/affiliation/40060/"} ! X-linked syndromic intellectual disability
relationship: excluded_subClassOf MONDO:0015159 {source="Orphanet:263355"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:263355"} ! X-linked syndromic intellectual disability
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6695" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6752" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6572" xsd:string

[Term]
id: MONDO:0016981
Expand Down Expand Up @@ -490717,17 +490719,15 @@ is_a: MONDO:0029000 {source="Orphanet:240839"} ! poisoning

[Term]
id: MONDO:0036042
name: obsolete KAT6B-related multiple congenital anomalies syndrome
subset: gard_rare {source="GARD:22399"}
subset: nord_rare {source="MONDO:NORD"}
name: KAT6B-related multiple congenital anomalies syndrome
comment: The obsoletion of this term has been reversed in the Mondo release of January 2024.
subset: ordo_group_of_disorders
synonym: "KAT6B-related disorder" EXACT [Orphanet:597749]
xref: GARD:22399 {source="MONDO:obsoleteEquivalent", source="Orphanet:597749"}
xref: Orphanet:597749 {source="MONDO:obsoleteEquivalent"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"}
xref: Orphanet:597749 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease
is_a: MONDO:0015159 {source="Orphanet:597749"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6876" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
is_obsolete: true
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6572" xsd:anyURI

[Term]
id: MONDO:0036045
Expand Down
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