Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant
go back to main search page
Accession:DOID:9001798 term browser browse the term
Synonyms:primary_id: MESH:C567296
 alt_id: OMIM:115300



show annotations for term's descendants           Sort by:
Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Hypercarotenemia and vitamin a deficiency, autosomal dominant
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:5453458 PMID:17951468 NCBI chr19:45,149,250...45,186,102
Ensembl chr19:45,149,265...45,186,101
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    Nutritional and Metabolic Diseases 8228
      disease of metabolism 8228
        acquired metabolic disease 2530
          carotenemia 1
            Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant 1
Path 2
Term Annotations click to browse term
  disease 21121
    Nutritional and Metabolic Diseases 8228
      disease of metabolism 8228
        acquired metabolic disease 2530
          nutrition disease 1085
            Malnutrition 341
              nutritional deficiency disease 325
                Avitaminosis 215
                  Vitamin A Deficiency 13
                    Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant 1
paths to the root