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rename epilepsy with myoclonic atonic seizures (#8611)
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* rename epilepsy with myoclonic atonic seizures

close #8452

* add term tracker item
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nicolevasilevsky authored Jan 23, 2025
1 parent ff37202 commit 7b632ba
Showing 1 changed file with 2 additions and 1 deletion.
3 changes: 2 additions & 1 deletion src/ontology/mondo-edit.obo
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Expand Up @@ -338485,7 +338485,7 @@ 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="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:2035"}
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relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11042 {source="MONDO:mim2gene_medgen", source="OMIM:616421"} ! SLC6A1
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4985" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8287" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8452" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2169/myoclonic-astatic-epilepsy" xsd:anyURI {source="GARD:0002169"}
property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/epilepsy-myoclonic-atonic-overview.html" xsd:string

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