Human genes for progressive familial intrahepatic cholestasis 4
Progressive familial intrahepatic cholestasis 4 [DOID:0070224]
A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21.
Synonyms: progressive familial intrahepatic cholestasis 4, DOID:0070224, progressive hereditary intrahepatic cholestasis 4, PFIC4, TJP2 deficit