| Metadata | |
|---|---|
| ID | DOID:0090122 |
| Name | aromatase excess syndrome |
| Definition | A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene. https://ghr.nlm.nih.gov/condition/aromatase-excess-syndrome, https://www.omim.org/entry/139300 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
AEXS [EXACT] familial hyperestrogenism [EXACT] hereditary prepubertal gynecomastia [EXACT] increased aromatase activity [EXACT] |
| Parent Relationships |