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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;   MIM:139300;   MIM:613546
 xref: GARD:12949;   ICD10CM:E30.1;   ORDO:178345


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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:2594783 PMID:16804045 PMID:25326637 PMID:25740850 PMID:25741868 More... 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
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aromatase deficiency | ClinVar Annotator: match by term: Aromatase excess syndrome | ClinVar Annotator: match by term: Familial gynecomastia, due to increased aromatase activity | ClinVar Annotator: match by term: Pseudohermaphroditism, female, due to placental aromatase deficiency
OMIM:139300		 OMIM
CTD
ClinVar
MouseDO		 PMID:1496995 PMID:1825497 PMID:2973313 PMID:8265607 PMID:8530621 More... NCBI chr 8:54,552,978...54,580,375
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 19047
    disease of anatomical entity 18381
      reproductive system disease 3040
        aromatase excess syndrome 2
Path 2
Term Annotations click to browse term
  disease 19047
    Pathological Conditions, Signs and Symptoms 13529
      Signs and Symptoms 11084
        Neurologic Manifestations 10336
          sensory system disease 7252
            skin disease 4199
              breast disease 1402
                gynecomastia 10
                  aromatase excess syndrome 2
paths to the root