Aromatase Excess Syndrome
Disease ID: disease_node_14916
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| Dbxref | GARD:12949, ICD10CM:E30.1, MIM:139300, ORDO:178345 |
|---|---|
| Subclassof | DOID_15 |
| Data Source | DOID |
| Synonyms | AEXS, familial hyperestrogenism, hereditary prepubertal gynecomastia, increased aromatase activity |
| Doid Label | aromatase excess syndrome |
| Doid Description | 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 domit 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. |
| Disease Node Id | disease_node_14916 |
| Doid Id | DOID_0090122 |
| Label | Aromatase Excess Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Reproductive System Disease(ID:disease_node_14851) (Disease)