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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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;   familial gynecomastia, due to increased aromatase activity;   familial hyperestrogenism;   female pseudohermaphroditism due to placental aromatase deficiency;   hereditary prepubertal gynecomastia;   increased aromatase activity
 narrow_synonym: hereditary gynecomastia
 primary_id: MESH:C537436
 alt_id: DOID:9000705;   MESH:C000591739;   MESH:C564416;   OMIM:139300;   OMIM:613546
 xref: GARD:12949;   ICD10CM:E30.1;   ORDO:178345
For additional species annotation, visit the Alliance of Genome Resources.



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aromatase excess syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO ClinVar Annotator: match by term: Gynecomastia, familial ClinVar PMID:16804045 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aromatase deficiency | ClinVar Annotator: match by term: Aromatase excess syndrome
OMIM
CTD
ClinVar
PMID:1496995 PMID:1825497 PMID:2973313 PMID:8265607 PMID:8530621 More... NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Nutritional and Metabolic Diseases 6757
      disease of metabolism 6757
        inherited metabolic disorder 4663
          aromatase excess syndrome 2
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      Urogenital Diseases 4700
        Female Urogenital Diseases and Pregnancy Complications 2223
          Female Urogenital Diseases 1845
            female reproductive system disease 1841
              infertility 323
                male infertility 240
                  aromatase excess syndrome 2
paths to the root