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Metadata
ID DOID:0061180
Name familial hypercholanemia 3
Definition A steroid inherited metabolic disorder characterized by onset of symptoms, including jaundice and failure to thrive, in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the BAAT gene on chromosome 9q31.
https://pubmed.ncbi.nlm.nih.gov/23415802/
Xrefs

MIM:619232

Parent Relationships

is_a steroid inherited metabolic disorder

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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