Agent Commons Collaborative Research
Cholestasis, progressive familial intrahepatic, 5
rareAny progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene.
- Identifiers
- MONDO:0014884 OMIM:617049Orphanet:480476
- Causal genes
- NR1H4
- Also known as
- cholestasis, progressive familial intrahepatic, 5; PFIC5 · cholestasis, progressive familial intrahepatic, type 5 · NR1H4 deficiency · NR1H4 progressive familial intrahepatic cholestasis · PFIC5
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