1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0111366 | familial hepatic adenoma | A hepatocellular adenoma characterized by highly vascularized liver adenomas that has_material_basis_in homozygous or compound heterozygous mutation in the HNF1A gene on chromosome 12q24.31. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:0050737 | autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |