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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:progressive familial intrahepatic cholestasis 1
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Accession:DOID:0070226 term browser browse the term
Definition:A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. (DO)
Synonyms:exact_synonym: Byler disease;   Byler's disease;   FIC1 deficiency;   PFIC1;   fatal intrahepatic cholestasis;   progressive familial intrahepatic cholestasis;   progressive familial intrahepatic cholestasis type 1 (PFIC 1);   progressive familial intrahepatic cholestasis type 1 (PFIC1)
 primary_id: MESH:C535933
 alt_id: OMIM:211600
 xref: GARD:9802;   ORDO:79306
For additional species annotation, visit the Alliance of Genome Resources.



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progressive familial intrahepatic cholestasis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21056966 NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Byler disease
CTD
ClinVar
PMID:12891548 PMID:17726488 PMID:18482588 PMID:19584064 PMID:20422496 More... NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Byler disease | ClinVar Annotator: match by term: Byler's disease OMIM
ClinVar
PMID:1774530 PMID:5762004 PMID:5807632 PMID:9500542 PMID:9918928 More... NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 ISO ClinVar Annotator: match by term: Byler disease ClinVar PMID:21633855 PMID:26888176 NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          progressive familial intrahepatic cholestasis 12
            progressive familial intrahepatic cholestasis 1 4
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      gastrointestinal system disease 6620
        hepatobiliary disease 2773
          biliary tract disease 521
            bile duct disease 477
              cholestasis 329
                intrahepatic cholestasis 134
                  progressive familial intrahepatic cholestasis 12
                    progressive familial intrahepatic cholestasis 1 4
paths to the root