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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
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Accession:DOID:9007118 term browser browse the term
Synonyms:exact_synonym: FHCA;   hypercholanemia
 primary_id: MESH:C564336
 xref: OMIM:PS607748
For additional species annotation, visit the Alliance of Genome Resources.



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Familial Hypercholanemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baat bile acid CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: Hypercholanemia, familial ClinVar NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685
JBrowse link
G Ephx1 epoxide hydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12878321 NCBI chr13:92,714,315...92,744,124
Ensembl chr13:92,714,315...92,790,235
JBrowse link
G Tjp2 tight junction protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:221,709,745...221,838,383
Ensembl chr 1:221,709,745...221,838,295
JBrowse link
Familial Hypercholanemia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baat bile acid CoA:amino acid N-acyltransferase ISO ClinVar Annotator: match by term: Hypercholanemia, familial 1 ClinVar PMID:17495420 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685
JBrowse link
G Ephx1 epoxide hydrolase 1 ISO ClinVar Annotator: match by term: Hypercholanemia, familial 1 ClinVar PMID:25326635 PMID:25741868 NCBI chr13:92,714,315...92,744,124
Ensembl chr13:92,714,315...92,790,235
JBrowse link
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Hypercholanemia, familial 1 OMIM
ClinVar
PMID:12704386 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 1:221,709,745...221,838,383
Ensembl chr 1:221,709,745...221,838,295
JBrowse link
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 OMIM
ClinVar
PMID:14660639 PMID:25418280 PMID:27882152 PMID:28835676 PMID:29658451 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 18145
    Nutritional and Metabolic Diseases 6763
      disease of metabolism 6763
        lipid metabolism disorder 1161
          steroid inherited metabolic disorder 56
            Familial Hypercholanemia 4
              Familial Hypercholanemia 1 3
              Familial Hypercholanemia 2 1
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        genetic disease 11118
          inherited metabolic disorder 4671
            lipid metabolism disorder 1161
              steroid inherited metabolic disorder 56
                Familial Hypercholanemia 4
                  Familial Hypercholanemia 1 3
                  Familial Hypercholanemia 2 1
paths to the root