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DOID:0111587 - Gordon Holmes syndrome
Disease Ontology Definition:An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in the RNF216 gene on chromosome 7p22.1.
Synonyms: CAHH, GDHS, LHRH deficiency and ataxia, cerebellar ataxia-hypogonadism syndrome, luteinizing hormone-releasing hormone deficiency with ataxia,
Xenbase Genes : rnf216
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee