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rename epilepsy with myoclonic atonic seizures #8611

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rename epilepsy with myoclonic atonic seizures #8611

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731744f
rename epilepsy with myoclonic atonic seizures
nicolevasilevsky Jan 20, 2025
90fd69f
add term tracker item
nicolevasilevsky Jan 22, 2025
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2 changes: 1 addition & 1 deletion src/ontology/mondo-edit.obo
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Expand Up @@ -338506,7 +338506,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/

[Term]
id: MONDO:0014633
name: myoclonic-atonic epilepsy
name: epilepsy with myoclonic atonic seizures
def: "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has material basis in heterozygous mutation in the SLC6A1 gene on chromosome 3p25." [DOID:0060475]
subset: gard_rare {source="GARD:16108", source="GARD:2169", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:2035"}
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