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General Information
ZIRC
OBO ID: DOID:0090122
Term Name: aromatase excess syndrome Search Ontology:
Synonyms:
  • AEXS
  • familial hyperestrogenism
  • hereditary prepubertal gynecomastia
  • increased aromatase activity
Definition: A reproductive system disease characterized by autosomal dominant inheritance of increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females that has_material_basis_in fusion of the CYP19A1 gene with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene.
References:
Ontology: Human Disease   (DOID:0090122)
OTHER aromatase excess syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CYP19A1 Aromatase excess syndrome 139300
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None