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
Accession: DOID:0070221
browse the term
Definition: An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. (DO)
Synonyms: exact_synonym: PFIC; Byler disease
xref: NCI:C84453 ; OMIM:PS211600 ; ORDO:172
For additional species annotation, visit the
Alliance of Genome Resources .
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ABCB11
ATP binding cassette subfamily B member 11
ISO
ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis
ClinVar
PMID:9806540 PMID:10579978 PMID:12370274 PMID:15300568 PMID:16039748 PMID:17855769 PMID:18395098 PMID:19101985 PMID:24991443 PMID:28492532 PMID:32581362
NCBI chr2B:56,199,434...56,311,773
Ensembl chr2B:173,664,518...173,776,379
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ATP8B1
ATPase phospholipid transporting 8B1
ISO
ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis
ClinVar
NCBI chr18:51,035,483...51,187,461
Ensembl chr18:54,370,447...54,522,196
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ABCB11
ATP binding cassette subfamily B member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21056966
NCBI chr2B:56,199,434...56,311,773
Ensembl chr2B:173,664,518...173,776,379
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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 7:79,395,924...79,469,755
Ensembl chr 7:93,046,085...93,119,439
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ATP8B1
ATPase phospholipid transporting 8B1
ISO
OMIM
NCBI chr18:51,035,483...51,187,461
Ensembl chr18:54,370,447...54,522,196
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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 chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058
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ABCB11
ATP binding cassette subfamily B member 11
disease_progression
ISO
DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human DNA:mutation:cds:p.D482G(human)
OMIM RGD
PMID:20447715 PMID:23758865
RGD:14402418 RGD:14688048
NCBI chr2B:56,199,434...56,311,773
Ensembl chr2B:173,664,518...173,776,379
G
ATP8B1
ATPase phospholipid transporting 8B1
ISO
ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 2
ClinVar
PMID:15239083 PMID:15888793 PMID:19731236 PMID:20981092 PMID:22995991 PMID:25741868 PMID:28492532
NCBI chr18:51,035,483...51,187,461
Ensembl chr18:54,370,447...54,522,196
G
ABCB11
ATP binding cassette subfamily B member 11
ISO
ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 3
ClinVar
PMID:16641580 PMID:18395098 PMID:22364601 PMID:27114171
NCBI chr2B:56,199,434...56,311,773
Ensembl chr2B:173,664,518...173,776,379
G
ABCB4
ATP binding cassette subfamily B member 4
ISO
OMIM
NCBI chr 7:79,395,924...79,469,755
Ensembl chr 7:93,046,085...93,119,439
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TJP2
tight junction protein 2
ISO
OMIM
NCBI chr 9:55,536,627...55,690,472
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USP53
ubiquitin specific peptidase 53
ISO
ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, (PFIC4-like)
ClinVar
PMID:25741868
NCBI chr 4:111,407,037...111,483,541
Ensembl chr 4:121,984,659...122,031,531
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NR1H4
nuclear receptor subfamily 1 group H member 4
ISO
OMIM
NCBI chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058
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