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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Gordon Holmes syndrome
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Accession:DOID:0111587 term browser browse the term
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. (DO)
Synonyms:exact_synonym: CAHH;   GDHS;   LHRH deficiency and ataxia;   cerebellar ataxia and hypogonadotropic hypogonadism;   cerebellar ataxia-hypogonadism syndrome;   deficiency of luteinizing hormone-releasing hormone with ataxia;   luteinizing hormone-releasing hormone deficiency with ataxia
 primary_id: MESH:C565870
 alt_id: OMIM:212840
 xref: ORDO:1173



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Gordon Holmes syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf216 ring finger protein 216 ISO ClinVar Annotator: match by term: Cerebellar ataxia and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11932290 PMID:23656588 PMID:25741868 PMID:25841028 PMID:28492532 More... NCBI chr12:11,454,752...11,576,305
Ensembl chr12:11,454,797...11,576,304
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8235
      disease of metabolism 8235
        inherited metabolic disorder 6212
          Gordon Holmes syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            movement disease 2576
              Dyskinesias 2190
                Ataxia 957
                  hereditary ataxia 636
                    cerebellar ataxia 471
                      Gordon Holmes syndrome 1
paths to the root