Online Mendelian Inheritance in Man - CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619662 http://purl.bioontology.org/ontology/OMIM/619662
Preferred Name	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8
Synonyms	PFIC8
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PFIC8
prefLabel	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8
Gene Symbol	PFIC8 KIF12
Scope Statement	Onset in early infancy [MISCELLANEOUS] Caused by mutation in the kinesin family member 12 gene (KIF12, 611278.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU004592 http://purl.bioontology.org/ontology/OMIM/MTHU038318 http://purl.bioontology.org/ontology/OMIM/MTHU003421 http://purl.bioontology.org/ontology/OMIM/MTHU022337 http://purl.bioontology.org/ontology/OMIM/MTHU024632 http://purl.bioontology.org/ontology/OMIM/MTHU037221 http://purl.bioontology.org/ontology/OMIM/MTHU074514 http://purl.bioontology.org/ontology/OMIM/MTHU037338 http://purl.bioontology.org/ontology/OMIM/MTHU009469 http://purl.bioontology.org/ontology/OMIM/MTHU034260 http://purl.bioontology.org/ontology/OMIM/MTHU002997 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU019102 http://purl.bioontology.org/ontology/OMIM/MTHU011727 http://purl.bioontology.org/ontology/OMIM/MTHU057841 http://purl.bioontology.org/ontology/OMIM/MTHU029291 See more See less
tui	T047
Gene Locus	9q32
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619662
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5562045
OMIM Entry Type	3
OMIM MimType Value	pound

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