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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 OMIM:212840
ClinVar Annotator: match by term: Gordon Holmes syndrome
OMIM
ClinVar
PMID:11932290, PMID:23656588, PMID:25741868, PMID:25841028 NCBI chr12:13,508,429...13,631,689
Ensembl chr12:13,508,429...13,632,304
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        inherited metabolic disorder 2223
          Gordon Holmes syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            movement disease 1156
              Dyskinesias 867
                Ataxia 393
                  hereditary ataxia 281
                    cerebellar ataxia 247
                      Gordon Holmes syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.