Term Name:	familial hypercholanemia 1
Synonyms:
Definition:	A steroid inherited metabolic disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins that has_material_basis_in homozygous mutation in the TJP2 gene on chromosome 9q21.
Ontology:	Human Disease [DOID:0061181]   ( DOID:0061181 )