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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:Familial Hypercholanemia 2
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Accession:DOID:9003473 term browser browse the term
Synonyms:exact_synonym: FHCA2;   NTCP deficiency;   SLC10A1-RELATED CONDITION
 primary_id: OMIM:619256


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Familial Hypercholanemia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc10a1 solute carrier family 10 member 1 ISO ClinVar Annotator: match by term: Hypercholanemia, familial, 2 | ClinVar Annotator: match by term: SLC10A1-related condition OMIM
ClinVar		 PMID:14660639 PMID:24867799 PMID:25418280 PMID:25741868 PMID:27882152 More... NCBI chr 6:100,613,045...100,626,670
Ensembl chr 6:100,613,045...100,626,670 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8235
      disease of metabolism 8235
        lipid metabolism disorder 1735
          steroid inherited metabolic disorder 58
            Familial Hypercholanemia 5
              Familial Hypercholanemia 2 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          inherited metabolic disorder 6212
            lipid metabolism disorder 1735
              steroid inherited metabolic disorder 58
                Familial Hypercholanemia 5
                  Familial Hypercholanemia 2 1
paths to the root