FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Gordon Holmes syndrome ID (Ontology) DOID:0111587 (Human Disease)
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.
Also Known As "CAHH" ; "cerebellar ataxia-hypogonadism syndrome" ; "GDHS" (for all, see Synonyms field below)
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DO.org
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       3
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 Alleles Genes
 Gordon Holmes syndrome       3      2
 model of | Gordon Holmes syndrome       3       --
Spanning Tree (Parents/Children)
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disease of metabolism
 |__inherited metabolic disorder__
autosomal genetic disease         |
 |__autosomal recessive disease___|
genetic disease                   |
 |__inherited metabolic disorder__|
                                  Gordon Holmes syndrome  5 rec.
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Is a autosomal recessive disease
inherited metabolic disorder
Part of
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Synonyms
  • "CAHH" EXACT OMO:0003012
    "cerebellar ataxia-hypogonadism syndrome" EXACT
    "GDHS" EXACT OMO:0003012
    "LHRH deficiency and ataxia" EXACT
    "luteinizing hormone-releasing hormone deficiency with ataxia" EXACT
Secondary IDs
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MESH:C565870
MIM:212840
ORDO:1173
SNOMEDCT_US_2023_03_01:230240004
UMLS_CUI:C1859305