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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:25741868 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 17129
    Nutritional and Metabolic Diseases 5514
      disease of metabolism 5514
        inherited metabolic disorder 2607
          aromatase excess syndrome 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      Urogenital Diseases 4320
        Female Urogenital Diseases and Pregnancy Complications 2030
          Female Urogenital Diseases 1731
            female reproductive system disease 1727
              infertility 280
                male infertility 199
                  aromatase excess syndrome 1
paths to the root