Visualize Submit Comment

Metadata
ID	DOID:0061181
Name	familial hypercholanemia 1
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. https://pubmed.ncbi.nlm.nih.gov/10889168/
Xrefs	MIM:607748
Parent Relationships	is_a steroid inherited metabolic disorder is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance