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 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
Advanced Search (OLGA)

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
go back to main search page
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


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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BCO1-related condition | ClinVar Annotator: match by term: Hypercarotenemia and vitamin a deficiency, autosomal dominant		 OMIM
CTD
ClinVar		 PMID:5453458 PMID:17951468 PMID:25741868 PMID:28492532 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 19134
    Nutritional and Metabolic Diseases 8543
      disease of metabolism 8543
        acquired metabolic disease 2538
          carotenemia 1
            Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant 1
            Hypercarotenemia and Vitamin A Deficiency, Autosomal Recessive 0
paths to the root