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Summary Literature (0)
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, cerebellar ataxia-hypogonadism syndrome, GDHS, LHRH deficiency and ataxia, luteinizing hormone-releasing hormone deficiency with ataxia

Xenbase Genes : rnf216


MIM:
MIM:212840 - GORDON HOLMES SYNDROME; GDHS

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), inherited metabolic disorder (is_a)