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Added Nord rare + Github tracker (#8356)
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yshwetar authored Nov 12, 2024
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Expand Up @@ -556232,6 +556232,7 @@ id: MONDO:0957248
name: developmental and epileptic encephalopathy, 31B
def: "Any developmental and epileptic encephalopathy in which the cause of the disease is a homozygous mutation in the DNM1 gene." [https://orcid.org/0000-0002-0587-4693, OMIM:620352]
subset: gard_rare {source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: rare
synonym: "developmental and epileptic encephalopathy 31B, autosomal recessive" EXACT [https://orcid.org/0000-0001-9310-0163, OMIM:620352]
synonym: "DNM1-encephalopathy and neurodevelopmental disorder" BROAD [https://orcid.org/0000-0001-9310-0163]
Expand All @@ -556240,6 +556241,7 @@ xref: MEDGEN:1841095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: OMIM:620352 {source="MONDO:equivalentTo"}
xref: UMLS:C5830459 {source="MEDGEN:1841095", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0100062 {source="DOID:0070376", source="OMIM:620352"} ! developmental and epileptic encephalopathy
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7641" xsd:string

[Term]
id: MONDO:0957249
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