Cholestasis, progressive familial intrahepatic, 13

Preferred Label : Cholestasis, progressive familial intrahepatic, 13;

Symbol : PFIC13;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Maddirevula-shagrani-ji syndrome;

Prefixed ID : #620962;

Details

Origin ID

620962;

Currated CISMeF NLP mapping
- Progressive Familial Intrahepatic Cholestasis Type 3 [NCIt concept]
Genes related to phenotype
- Protein serine kinase h1 [OMIM gene]

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