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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:gynecomastia
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Accession:DOID:12698 term browser browse the term
Definition:A disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels. (DO)
Synonyms:exact_synonym: Adolescent Gynecomastia;   Male Breast Enlargement
 primary_id: MESH:D006177
 xref: ICD10CM:N62;   NCI:C3073
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
gynecomastia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7878608 PMID:9334596 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
JBrowse link
17-beta hydroxysteroid dehydrogenase 3 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: 17 alpha ketosteroid reductase deficiency of testis ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
JBrowse link
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 ISO
ISS
ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency
OMIM:264300
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:598011 PMID:2918056 PMID:3066852 PMID:8075637 PMID:8550739 More... NCBI chr17:1,027,229...1,058,554
Ensembl chr17:1,027,229...1,058,554
JBrowse link
aromatase excess syndrome term browser
Symbol Object Name Qualifiers 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 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
CTD
ClinVar
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
D-bifunctional protein deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: DBP deficiency ClinVar PMID:16385454 PMID:22279524 PMID:23035047 PMID:28492532 NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 severity ISO
ISS
ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: DBP deficiency
OMIM:261515
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:2868085 PMID:2882519 PMID:2921319 PMID:8279468 PMID:9345094 More... RGD:1599968, RGD:10411884 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
JBrowse link
Wilson-Turner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac8 histone deacetylase 8 ISO DNA:snp:intron:c.164+5G>A (human) RGD PMID:22889856 RGD:13208817 NCBI chr  X:67,385,288...67,593,014
Ensembl chr  X:67,385,289...67,592,923
JBrowse link
G Las1l LAS1-like, ribosome biogenesis factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wilson-Turner syndrome
OMIM
CTD
ClinVar
PMID:1746601 PMID:24647030 PMID:25644381 PMID:25741868 PMID:28492532 NCBI chr  X:60,851,969...60,873,717
Ensembl chr  X:60,851,962...60,873,687
JBrowse link
G Zc3h12b zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Wilson-Turner syndrome ClinVar NCBI chr  X:60,615,616...60,849,278
Ensembl chr  X:60,615,682...60,844,832
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      skin disease 3960
        breast disease 1384
          gynecomastia 10
            17-beta hydroxysteroid dehydrogenase 3 deficiency + 4
            Vasquez Hurst Sotos Syndrome 0
            Wilson-Turner syndrome 3
            aromatase excess syndrome 2
            infant gynecomastia 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              breast disease 1384
                gynecomastia 10
                  17-beta hydroxysteroid dehydrogenase 3 deficiency + 4
                  Vasquez Hurst Sotos Syndrome 0
                  Wilson-Turner syndrome 3
                  aromatase excess syndrome 2
                  infant gynecomastia 0
paths to the root