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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 RNF216 on chromosome 7p22.1. (DO)
Synonyms:exact_synonym: CAHH;   Cerebellar Ataxia and Hypogonadotropic Hypogonadism;   GDHS;   LHRH deficiency and ataxia;   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
For additional species annotation, visit the Alliance of Genome Resources.



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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-hypogonadism syndrome OMIM
ClinVar
PMID:11932290 PMID:23656588 PMID:25741868 PMID:25841028 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 18215
    Nutritional and Metabolic Diseases 6780
      disease of metabolism 6780
        inherited metabolic disorder 4684
          Gordon Holmes syndrome 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13207
        central nervous system disease 11364
          brain disease 10660
            movement disease 1744
              Dyskinesias 1401
                Ataxia 549
                  hereditary ataxia 407
                    cerebellar ataxia 282
                      Gordon Holmes syndrome 1
paths to the root