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DOID:0090122 - aromatase excess syndrome
Disease Ontology 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.
Synonyms: AEXS, familial hyperestrogenism, hereditary prepubertal gynecomastia, increased aromatase activity
Xenbase Genes : cyp19a1
MONDO:0007690 - aromatase excess syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
reproductive system disease (is_a)