Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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


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 NCBI chr 2:71,577,165...71,602,756
Ensembl chr 2:71,577,168...71,602,777 		JBrowse link
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 OMIM
ClinVar		 PMID:11932290 PMID:23656588 PMID:25741868 PMID:25841028 PMID:28492532 More... NCBI chr 3:4,158,447...4,329,458
Ensembl chr 3:4,158,450...4,329,378 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    Nutritional and Metabolic Diseases 7091
      disease of metabolism 7091
        inherited metabolic disorder 5479
          Gordon Holmes syndrome 2
Path 2
Term Annotations click to browse term
  disease 15274
    disease of anatomical entity 14908
      nervous system disease 12991
        central nervous system disease 11643
          brain disease 10934
            movement disease 2458
              Dyskinesias 2098
                Ataxia 915
                  hereditary ataxia 622
                    cerebellar ataxia 466
                      Gordon Holmes syndrome 2
paths to the root