Gordon Holmes Syndrome

Preferred Label : Gordon Holmes Syndrome;

NCIt synonyms : Cerebellar Ataxia-Hypogonadism Syndrome; GDHS;

NCIt definition : An autosomal recessive neurodegenerative condition caused by mutation(s) in the RNF216 gene, encoding E3 ubiquitin-protein ligase RNF216. It is characterized by dementia and movement disorders. This phenotype is associated with hypogonadotropic hypogonadism.;

Details

Origin ID

C205640;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- RNF216 Gene [NCIt concept]

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