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aromatase excess syndrome
Summary
- Synonym
-
- AEXS
- familial hyperestrogenism
- hereditary prepubertal gynecomastia
- increased aromatase activity
- 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.
- Super Class
- reproductive system disease
External Links
- Disease Ontology
- DOID:0090122
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000771 | Gynecomastia |
| HP:0005616 | Accelerated skeletal maturation |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0004322 | Short stature |
