Term Name:	familial hypercholanemia 2
Synonyms:
Definition:	A steroid inherited metabolic disorder characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC10A1 gene on chromosome 14q24.
Ontology:	Human Disease [DOID:0061182]   ( DOID:0061182 )