| 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 |