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Metadata
ID DOID:0070224
Name progressive familial intrahepatic cholestasis 4
Definition A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21.
https://www.ncbi.nlm.nih.gov/pubmed/24614073
Xrefs

OMIM:615878

ORDO:480483

Synonyms

PFIC4 [EXACT]

TJP2 deficit [EXACT]

Parent Relationships

is_a progressive familial intrahepatic cholestasis

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