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DOID:0060806 - syndromic X-linked intellectual disability Hedera type
Disease Ontology Definition:A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11.
Synonyms: MRXE, MRXSH, X-linked mental retardation with epilepsy, mental retardation, X-linked, syndromic, Hedera type,
Echinobase Genes : atp6ap2
MIM:300423 - mental retardation, x-linked, syndromic, hedera type; mrxsh |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee