diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 3680ffd4d..2ca93f9f0 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -552568,6 +552568,17 @@ is_a: MONDO:0005384 {source="https://orcid.org/0000-0002-4142-7153"} ! focal epi is_a: MONDO:0020072 {source="https://www.epilepsydiagnosis.org/syndrome/epilepsy-syndrome-groupoverview.html"} ! childhood-onset epilepsy syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8490" xsd:anyURI +[Term] +id: MONDO:0800503 +name: TMEM63B-related developmental and epileptic encephalopathy with anemia +def: "A developmental and epileptic encephalopathy caused by variation in the TMEM63B gene. This disorder is characterised by early-onset drug-resistant epilepsy, with moderate-to-profound intellectual disability, severe motor impairment and brain structural anomalies. Most patients present early generalised hypotonia, nystagmus and central visual impairment, severe dysphagia and haematological abnormalities." [PMID:37421948] +synonym: "TMEM63B-related DEE with anaemia" EXACT OMO:0003005 [https://orcid.org/0000-0002-0987-9862] +synonym: "TMEM63B-related DEE with anemia" EXACT [https://orcid.org/0000-0002-0987-9862] +synonym: "TMEM63B-related developmental and epileptic encephalopathy with anaemia" EXACT OMO:0003005 [https://orcid.org/0000-0002-0987-9862] +is_a: MONDO:0100062 {source="PMID:37421948", source="https://orcid.org/0000-0002-0987-9862"} ! developmental and epileptic encephalopathy +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17735 {source="PMID:37421948"} ! TMEM63B +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8159" xsd:anyURI + [Term] id: MONDO:0810000 name: choroidal neovascularization