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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:Hypocholesterolemia
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Accession:DOID:9007751 term browser browse the term
Definition:A decreased concentration of cholesterol in the blood.
Synonyms:exact_synonym: Hypocholesteremia
 primary_id: RDO:9000334



show annotations for term's descendants           Sort by:
Hypocholesterolemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Hypocholesterolemia ClinVar PMID:11941481 PMID:15654334 PMID:16424354 PMID:16465619 PMID:16554528 More... NCBI chr 5:126,440,102...126,462,507
Ensembl chr 5:121,211,278...121,233,688
JBrowse link
G Ucp3 uncoupling protein 3 ISO RGD PMID:10935638 RGD:737762 NCBI chr 1:164,227,910...164,240,893
Ensembl chr 1:154,815,777...154,828,762
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Nutritional and Metabolic Diseases 8544
      disease of metabolism 8544
        lipid metabolism disorder 1905
          Dyslipidemias 419
            Hypocholesterolemia 2
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14674
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          inherited metabolic disorder 6627
            lipid metabolism disorder 1905
              Dyslipidemias 419
                Hypocholesterolemia 2
paths to the root