diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index ab956dfe3..aabaac454 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -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"} @@ -338520,6 +338520,7 @@ relationship: excluded_subClassOf MONDO:0019216 {source="PMID:33340416", source= 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