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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:Klinefelter syndrome
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Accession:DOID:1921 term browser browse the term
Definition:A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men. (DO)
Synonyms:exact_synonym: 47, XXY;   48,XXYY syndrome;   49,XXXXY Syndrome;   Hypogonadotropic Hypogonadism;   Klinefelter Syndrome, Variants;   Klinefelter Syndromes, Variants;   Klinefelter syndromes;   Klinefelter's syndrome;   Klinefelters syndrome;   XXXY Male;   XXXY Males;   XXY Syndrome;   XXY Syndromes;   XXY Trisomies;   XXY trisomy;   XXYY syndrome;   XXYY syndromes
 primary_id: MESH:D007713
 xref: EFO:1001006;   GARD:8705;   ICD10CM:Q98.0;   ICD9CM:758.7;   NCI:C185635;   NCI:C34752
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Klinefelter syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc141 coiled-coil domain containing 141 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chr 3:61,948,614...62,109,968
Ensembl chr 3:61,948,646...62,110,079 		JBrowse link
G Gnrhr gonadotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:7557974 PMID:9371856 PMID:10022417 PMID:10690855 PMID:10999776 More... NCBI chr14:21,856,871...21,874,861
Ensembl chr14:21,856,871...21,874,861 		JBrowse link
G Nhlh2 nescient helix loop helix 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 PMID:35066646 NCBI chr 2:189,444,287...189,449,625
Ensembl chr 2:189,442,711...189,449,625 		JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chr  X:66,427,926...66,457,378
Ensembl chr  X:66,429,458...66,451,876 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603 		JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 More... NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598 		JBrowse link
G Pou6f2 POU class 6 homeobox 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr17:46,472,182...46,886,796
Ensembl chr17:46,472,181...46,921,039 		JBrowse link
G Prok2 prokineticin 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385 		JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 8:108,357,629...108,386,569
Ensembl chr 8:108,357,629...108,387,083 		JBrowse link
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354 		JBrowse link
G Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 2:223,266,536...223,363,791
Ensembl chr 2:223,266,536...223,363,791 		JBrowse link
G Wfdc17 WAP four-disulfide core domain 17 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:8504298 PMID:11297579 PMID:16199547 PMID:25741868 PMID:28492532 More... NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19057
    syndrome 11177
      Klinefelter syndrome 12
Path 2
Term Annotations click to browse term
  disease 19057
    Developmental Disease 14528
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13541
        Congenital Abnormalities 7759
          Urogenital Abnormalities 452
            disorder of sexual development 234
              Sex Chromosome Disorders of Sex Development 21
                Klinefelter syndrome 12
paths to the root