Disease #05433 (PFIC5 (cholestasis, intrahepatic, familial, progressive, type 5 (PFIC-5)), OMIM:617049)

Official abbreviation	PFIC5
Name	cholestasis, intrahepatic, familial, progressive, type 5 (PFIC-5)
OMIM ID	617049
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	NR1H4
Associated tissues	-
Disease features	autosomal recessive
Remarks	-
Date created	2018-05-30 09:51:23 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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Global Variome shared LOVD