@@ -463563,17 +463563,15 @@ is_obsolete: true
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[Term]
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id: MONDO:0020627
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- name: epileptic encephalopathy, infantile or early childhood
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- comment: Reason of obsoletion: Obsoleted in source - MONDO:excludeHistoricalDisease. Term to consider: developmental and epileptic encephalopathy'-MONDO:0100062
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+ name: obsolete epileptic encephalopathy, infantile or early childhood
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subset: gard_rare {source="MONDO:GARD"}
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- subset: obsoletion_candidate
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subset: rare
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- xref: OMIMPS:617711 {source="MONDO:equivalentTo"}
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- is_a: MONDO:0015650 ! epilepsy syndrome
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- relationship: has_characteristic MONDO:0021152 {source="OMIMPS:617711"} ! inherited
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+ xref: OMIMPS:617711 {source="MONDO:obsoleteEquivalentObsolete"}
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+ property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
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property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/271" xsd:anyURI
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property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8320" xsd:anyURI
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- property_value: IAO:0006012 "2025-02-01" xsd:string
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+ is_obsolete: true
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+ consider: MONDO:0100062
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[Term]
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id: MONDO:0020628
@@ -463623,7 +463621,7 @@ xref: MEDGEN:1626137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
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xref: OMIM:617711 {source="MONDO:equivalentTo"}
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xref: UMLS:C4540199 {source="MEDGEN:1626137", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
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is_a: MONDO:0100062 {source="DOID:0080472", source="OMIM:617711"} ! developmental and epileptic encephalopathy
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- relationship: excluded_subClassOf MONDO:0020627 {source="OMIM:617711", source="https://orcid.org/0000-0001-5208-3432"} ! epileptic encephalopathy, infantile or early childhood
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+ relationship: excluded_subClassOf MONDO:0020627 {source="OMIM:617711", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete epileptic encephalopathy, infantile or early childhood
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relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9314 {source="OMIM:617711"} ! PPP3CA
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property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
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@@ -463644,7 +463642,7 @@ xref: OMIM:617829 {source="MONDO:equivalentTo"}
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xref: Orphanet:442835 {source="OMIM:617829"}
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xref: UMLS:C4693362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1638319"}
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is_a: MONDO:0100062 {source="DOID:0080471", source="OMIM:617829", source="https://orcid.org/0000-0001-5208-3432"} ! developmental and epileptic encephalopathy
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- relationship: excluded_subClassOf MONDO:0020627 {source="OMIM:617829", source="https://orcid.org/0000-0001-5208-3432"} ! epileptic encephalopathy, infantile or early childhood
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+ relationship: excluded_subClassOf MONDO:0020627 {source="OMIM:617829", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete epileptic encephalopathy, infantile or early childhood
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relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/4082 {source="OMIM:617829"} ! GABRB2
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property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
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@@ -463665,7 +463663,7 @@ xref: OMIM:618012 {source="MONDO:equivalentTo"}
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xref: Orphanet:442835 {source="OMIM:618012"}
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xref: UMLS:C4693934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1642888"}
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is_a: MONDO:0100062 {source="DOID:0112275", source="OMIM:618012"} ! developmental and epileptic encephalopathy
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- relationship: excluded_subClassOf MONDO:0020627 {source="OMIM:618012", source="https://orcid.org/0000-0001-5208-3432"} ! epileptic encephalopathy, infantile or early childhood
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+ relationship: excluded_subClassOf MONDO:0020627 {source="OMIM:618012", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete epileptic encephalopathy, infantile or early childhood
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relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/851 {source="OMIM:618012"} ! ATP6V1A
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property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
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