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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:Sex Chromosome Disorders of Sex Development
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Accession:DOID:9003262 term browser browse the term
Definition:Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM.
Synonyms:exact_synonym: Sex Chromosome DSD;   Sex Chromosome DSDs
 primary_id: MESH:D058533;   RDO:0000370


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Klinefelter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anos1 anosmin 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:8504298 PMID:11297579 PMID:16199547 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955499:6,486,287...6,686,739
Ensembl chrNW_004955499:6,486,682...6,687,484
JBrowse link
G Ccdc141 coiled-coil domain containing 141 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chrNW_004955403:17,850,119...18,032,722
Ensembl chrNW_004955403:17,850,260...18,034,550
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chrNW_004955463:14,013,247...14,064,354
Ensembl chrNW_004955463:14,013,247...14,064,111
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 chrNW_004955495:6,918,632...6,921,891 JBrowse link
G Nhlh2 nescient helix-loop-helix 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 PMID:35066646 NCBI chrNW_004955435:19,070,715...19,073,678
Ensembl chrNW_004955435:19,068,761...19,075,257
JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chrNW_004955475:10,712,170...10,735,857
Ensembl chrNW_004955475:10,712,170...10,735,857
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chrNW_004955580:958,033...972,123
Ensembl chrNW_004955580:957,860...972,772
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chrNW_004955413:24,300,340...24,309,798
Ensembl chrNW_004955413:24,300,340...24,311,166
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 chrNW_004955405:40,353,289...40,451,445
Ensembl chrNW_004955405:40,353,281...40,451,479
JBrowse link
G Pou6f2 POU class 6 homeobox 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chrNW_004955460:4,021,679...4,497,538 JBrowse link
G Prok2 prokineticin 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chrNW_004955421:16,325,519...16,339,458
Ensembl chrNW_004955421:16,325,519...16,337,980
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 chrNW_004955415:15,867,017...15,878,471
Ensembl chrNW_004955415:15,866,554...15,878,582
JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chrNW_004955532:1,992,417...2,015,879
Ensembl chrNW_004955532:1,988,486...2,017,170
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chrNW_004955413:24,313,311...24,323,112
Ensembl chrNW_004955413:24,311,783...24,323,315
JBrowse link
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955487:2,678,961...2,680,869
Ensembl chrNW_004955487:2,679,145...2,680,521
JBrowse link
G Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chrNW_004955496:5,152,134...5,222,565
Ensembl chrNW_004955496:5,151,668...5,222,624
JBrowse link
Turner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
JBrowse link
G Igf1 insulin like growth factor 1 ISO protein:decreased activity:serum: RGD PMID:17067837 RGD:12743588 NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152
JBrowse link
G Igfbp3 insulin like growth factor binding protein 3 treatment ISO DNA:SNP: :¿¿¿202 A>C(rs2854744)(human) RGD PMID:17067837 PMID:22278433 RGD:12743588 RGD:12743598 NCBI chrNW_004955456:6,795,560...6,802,147
Ensembl chrNW_004955456:6,795,604...6,800,845
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Turner syndrome ClinVar PMID:25741868 NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNP: :rs7975232(human) RGD PMID:21823528 RGD:13432073 NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14337
    disease of anatomical entity 14030
      endocrine system disease 5750
        gonadal disease 1295
          disorder of sexual development 223
            Sex Chromosome Disorders of Sex Development 24
              Klinefelter syndrome 16
              Male Sterility due to Y-Chromosome Deletions 0
              Triple X Syndrome 0
              Turner syndrome + 8
              freemartinism 0
              mixed gonadal dysgenesis + 0
Path 2
Term Annotations click to browse term
  disease 14337
    Developmental Disease 12609
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11872
        genetic disease 11601
          chromosomal disease 2915
            Sex Chromosome Disorders 77
              Sex Chromosome Disorders of Sex Development 24
                Klinefelter syndrome 16
                Male Sterility due to Y-Chromosome Deletions 0
                Triple X Syndrome 0
                Turner syndrome + 8
                freemartinism 0
                mixed gonadal dysgenesis + 0
paths to the root