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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:carotenemia
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Accession:DOID:9969 term browser browse the term
Definition:An acquired metabolic disease that is characterized by yellow-orange skin pigmentation due to high levels of carotene in blood. (DO)
Synonyms:exact_synonym: hypercarotinemia
 xref: ICD10CM:E67.1;   ICD9CM:278.3;   NCI:C26963



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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypercarotenemia and vitamin a deficiency, autosomal dominant
OMIM
CTD
ClinVar
PMID:5453458 PMID:17951468 PMID:25741868 NCBI chr19:45,149,250...45,186,102
Ensembl chr19:45,149,265...45,186,101
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8235
      disease of metabolism 8235
        acquired metabolic disease 2535
          carotenemia 1
            Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant 1
            Hypercarotenemia and Vitamin A Deficiency, Autosomal Recessive 0
paths to the root