Term Name: progressive familial intrahepatic cholestasis 4
Synonyms: PFIC4, TJP2 deficit
Definition: A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21.
Ontology: Human Disease [DOID:0070224]   ( DOID:0070224 )

Relationships
is a type of: autosomal recessive disease progressive familial intrahepatic cholestasis