Cholestasis, progressive familial intrahepatic, 12

Preferred Label : Cholestasis, progressive familial intrahepatic, 12;

Symbol : PFIC12;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cholestasis, isolated low-ggt;

Prefixed ID : #620010;

Details

Origin ID

620010;

UMLS CUI

C5774311;

Genes related to phenotype
- Vps33b late endosome and lysosome associated [OMIM gene]
ORDO concept(s)
- Progressive familial intrahepatic cholestasis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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