| Metadata | |
|---|---|
| ID | DOID:0111587 |
| Name | Gordon Holmes syndrome |
| 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. https://ghr.nlm.nih.gov/condition/gordon-holmes-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/23656588, https://www.ncbi.nlm.nih.gov/pubmed/25841028 |
| Xrefs |
SNOMEDCT_US_2023_03_01:230240004 |
| Subsets |
DO_rare_slim |
| Synonyms |
CAHH [EXACT] cerebellar ataxia-hypogonadism syndrome [EXACT] GDHS [EXACT] LHRH deficiency and ataxia [EXACT] luteinizing hormone-releasing hormone deficiency with ataxia [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |