Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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;   RDO:0001306
 xref: GARD:9802;   ORDO:79306
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic 1
CTD
ClinVar
PMID:12891548, PMID:17726488, PMID:18482588, PMID:19584064, PMID:21056966, PMID:23533021, PMID:25741868, PMID:25807286, PMID:26153658, PMID:26900700, PMID:32581362 NCBI chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic 1
ClinVar Annotator: match by term: Byler disease
OMIM
ClinVar
PMID:1774530, PMID:5762004, PMID:5807632, PMID:9500542, PMID:9918928, PMID:11093741, PMID:12149765, PMID:14976163, PMID:15239083, PMID:15317749, PMID:15657619, PMID:15888793, PMID:16374853, PMID:18937870, PMID:19479804, PMID:19731236, PMID:19918981, PMID:20232290, PMID:20852622, PMID:20981092, PMID:22995991, PMID:23060447, PMID:24033266, PMID:24260417, PMID:25737299, PMID:25741868, PMID:26126923, PMID:26594346, PMID:26756876, PMID:26879107, PMID:28045770, PMID:28492532 NCBI chr18:60,013,388...60,152,920
Ensembl chr18:60,013,382...60,095,354
JBrowse link
G Nr1h4 nuclear receptor subfamily 1, group H, member 4 ISO ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic 1 ClinVar PMID:21633855, PMID:26888176 NCBI chr 7:30,003,429...30,162,095
Ensembl chr 7:30,003,429...30,162,056
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          progressive familial intrahepatic cholestasis 6
            progressive familial intrahepatic cholestasis 1 4
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      gastrointestinal system disease 4633
        hepatobiliary disease 2505
          biliary tract disease 438
            bile duct disease 408
              cholestasis 313
                intrahepatic cholestasis 124
                  progressive familial intrahepatic cholestasis 6
                    progressive familial intrahepatic cholestasis 1 4
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.