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 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. (2)
References:
Ontology: Human Disease   ( DOID:0090122 )
Relationships
is a type of:
OTHER aromatase excess syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CYP19A1 Aromatase excess syndrome 139300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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