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 | |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |