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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, 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;   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 Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by OMIM:613546
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aromatase deficiency
OMIM
ClinVar
CTD
PMID:1496995, PMID:1825497, PMID:2973313, PMID:8265607, PMID:8530621, PMID:9177373, PMID:9211678, PMID:9718379, PMID:10566648, PMID:12466340, PMID:14715828, PMID:16882736, PMID:17164303, PMID:20048079, PMID:20186154, PMID:22992668, PMID:23329769, PMID:25088806, PMID:25415177, PMID:25793413, PMID:26191232, PMID:27256151, PMID:28492532 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          aromatase excess syndrome 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Urogenital Diseases 4155
        Female Urogenital Diseases and Pregnancy Complications 1915
          Female Urogenital Diseases 1612
            female reproductive system disease 1608
              infertility 240
                male infertility 177
                  aromatase excess syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.