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Metadata
ID	DOID:0061182
Name	familial hypercholanemia 2
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. https://pubmed.ncbi.nlm.nih.gov/28835676/
Xrefs	MIM:619256
Parent Relationships	is_a steroid inherited metabolic disorder is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance