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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;   RNF216-RELATED CONDITION;   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: MIM:212840
 xref: NCI:C205640;   ORDO:1173


show annotations for term's descendants           Sort by:
Gordon Holmes syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31135245 PMID:31712030 NCBI chr12:6,372,284...6,401,632
Ensembl chr12:6,372,293...6,401,631 		JBrowse link
G Rnf216 ring finger protein 216 ISO ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome | ClinVar Annotator: match by term: RNF216-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:11932290 PMID:23656588 PMID:25741868 PMID:25841028 PMID:28492532 More... NCBI chr12:16,568,327...16,689,868
Ensembl chr12:16,568,347...16,690,989 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        inherited metabolic disorder 6673
          Gordon Holmes syndrome 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            movement disease 2631
              Dyskinesias 2229
                Ataxia 954
                  hereditary ataxia 633
                    cerebellar ataxia 483
                      Gordon Holmes syndrome 2
paths to the root