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ONTOLOGY REPORT - ANNOTATIONS


Term:aromatase excess syndrome
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Accession:DOID:0090122 term browser browse the term
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. (DO)
Synonyms:exact_synonym: AEXS;   aromatase deficiency;   familial gynecomastia, due to increased aromatase activity;   familial hyperestrogenism;   female pseudohermaphroditism due to placental aromatase deficiency;   hereditary prepubertal gynecomastia;   increased aromatase activity
 narrow_synonym: AROMATASE ACTIVITY, INCREASED GYNECOMASTIA, FAMILIAL, DUE TO INCREASED AROMATASE ACTIVITY;   GYNECOMASTIA, HEREDITARY
 primary_id: MESH:C000591739;   MESH:C537436
 alt_id: OMIM:139300;   OMIM:613546;   RDO:0003277;   RDO:0015995
 xref: GARD:12949;   ORDO:178345
For additional species annotation, visit the Alliance of Genome Resources.


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aromatase excess syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 JBrowse link 8 58,744,849 58,772,408 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    Nutritional and Metabolic Diseases 4375
      disease of metabolism 4375
        inherited metabolic disorder 1862
          aromatase excess syndrome 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      Urogenital Diseases 3964
        Female Urogenital Diseases and Pregnancy Complications 1717
          Female Urogenital Diseases 1460
            female reproductive system disease 1456
              infertility 211
                male infertility 152
                  aromatase excess syndrome 1
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