diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 34e4b3217..1ab48147c 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -542412,15 +542412,17 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0100551 -name: SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss -def: "A neurodevelopmental disorder related to biallelic variants in SPATA5L1 and characterized by a spectrum of intellectual disability, hearing loss, and motor features including spasticity, dystonia, and/or hypotonia. Other phenotypic features commonly reported with the neurodevelopmental presentation include spasticity, focal or generalized epilepsy, and microcephaly." [https://clinicalgenome.org/affiliation/40006/] +name: AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss +def: "A neurodevelopmental disorder related to biallelic variants in AFG2B and characterized by a spectrum of intellectual disability, hearing loss, and motor features including spasticity, dystonia, and/or hypotonia. Other phenotypic features commonly reported with the neurodevelopmental presentation include spasticity, focal or generalized epilepsy, and microcephaly." [https://clinicalgenome.org/affiliation/40006/, https://clinicalgenome.org/affiliation/40113/] subset: inferred_rare subset: rare synonym: "AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss" EXACT [https://orcid.org/0000-0001-5208-3432] +synonym: "SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss" EXACT [https://clinicalgenome.org/affiliation/40006/] is_a: MONDO:0100038 {source="https://clinicalgenome.org/affiliation/40006/"} ! complex neurodevelopmental disorder relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28762 {source="https://clinicalgenome.org/affiliation/40006/"} ! AFG2B property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7317" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7975" xsd:anyURI [Term] id: MONDO:0100552