Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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 3:82,357,046...82,517,199
Ensembl chr 3:82,357,681...82,517,710 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:12627230 PMID:17200176 PMID:25636053 PMID:25741868 PMID:28492532 More... NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:19567835 PMID:22035731 PMID:23936060 PMID:25741868 PMID:28492532 NCBI chr15:46,147,878...46,152,086
Ensembl chr15:46,148,301...46,148,977
Ensembl chr15:46,148,301...46,148,977 		JBrowse link
G Gnrhr gonadotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:7557974 PMID:9371856 PMID:9425890 PMID:10022417 PMID:10084584 More... NCBI chr14:22,211,666...22,229,654 JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:14573733 PMID:23349759 PMID:25741868 PMID:28492532 PMID:31073722 NCBI chr 7:10,435,766...10,439,424
Ensembl chr 7:10,435,766...10,439,424 		JBrowse link
G Nhlh2 nescient helix loop helix 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 PMID:35066646 NCBI chr 2:192,132,848...192,138,186
Ensembl chr 2:192,132,686...192,138,186 		JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chr  X:70,469,251...70,497,380
Ensembl chr  X:70,469,457...70,497,379 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr  X:157,266,986...157,282,896
Ensembl chr  X:157,267,107...157,282,891 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 7:112,592,977...112,604,681
Ensembl chr 7:112,593,027...112,604,666 		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 7:20,926,866...21,030,133
Ensembl chr 7:20,926,866...21,033,654 		JBrowse link
G Pou6f2 POU class 6 homeobox 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr17:51,040,522...51,616,716
Ensembl chr17:51,167,771...51,616,597 		JBrowse link
G Prok2 prokineticin 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 4:133,903,210...133,918,126
Ensembl chr 4:133,903,210...133,917,933 		JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:16537498 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18723471 More... NCBI chr 3:140,077,629...140,092,327
Ensembl chr 3:140,077,630...140,092,093 		JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 8:117,236,269...117,265,206
Ensembl chr 8:117,236,269...117,265,206 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 7:112,605,721...112,615,097
Ensembl chr 7:112,605,721...112,615,990 		JBrowse link
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:49,736,773...49,738,794
Ensembl chr 6:49,736,304...49,738,691 		JBrowse link
G Tac3 tachykinin precursor 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:16199547 PMID:20194706 PMID:20332248 PMID:25077900 PMID:25741868 More... NCBI chr 7:65,447,817...65,454,427
Ensembl chr 7:65,447,817...65,454,427 		JBrowse link
G Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 2:225,940,497...226,037,756
Ensembl chr 2:225,940,444...226,037,756 		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 chr10:69,059,451...69,060,298 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      Klinefelter syndrome 19
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        Congenital Abnormalities 7954
          Urogenital Abnormalities 465
            disorder of sexual development 241
              Sex Chromosome Disorders of Sex Development 28
                Klinefelter syndrome 19
paths to the root