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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 chr  X:5,413,958...5,601,663
Ensembl chr  X:5,415,575...5,762,656
JBrowse link
G CCDC141 coiled-coil domain containing 141 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chr36:22,437,363...22,626,200
Ensembl chr36:22,492,052...22,625,957
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
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 chr13:58,253,112...58,266,600
Ensembl chr13:58,253,027...58,266,705
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 chr20:57,756,046...57,758,940
Ensembl chr20:57,756,197...57,758,940
JBrowse link
G NHLH2 nescient helix-loop-helix 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 PMID:35066646 NCBI chr17:53,359,275...53,363,753
Ensembl chr17:53,359,258...53,458,795
JBrowse link
G NLGN3 neuroligin 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chr  X:55,510,729...55,532,396
Ensembl chr  X:55,513,626...55,531,371
JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr  X:122,165,460...122,180,727
Ensembl chr  X:122,167,144...122,180,951
JBrowse link
G POLR2F RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr10:26,694,895...26,707,451
Ensembl chr10:26,691,256...26,707,507
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 chr10:32,202,188...32,309,775
Ensembl chr10:32,202,190...32,309,614
JBrowse link
G POU6F2 POU class 6 homeobox 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr18:10,237,802...10,293,108 JBrowse link
G PROK2 prokineticin 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868
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 chr24:16,351,912...16,364,139
Ensembl chr24:16,351,806...16,375,217
JBrowse link
G SEMA3F semaphorin 3F ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr20:39,135,580...39,165,381
Ensembl chr20:39,136,523...39,161,325
JBrowse link
G SOX10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr10:26,680,441...26,690,530
Ensembl chr10:26,681,122...26,689,882
JBrowse link
G SOX11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 PMID:28492532
G TACR3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr32:24,812,344...24,888,452
Ensembl chr32:24,812,119...24,907,580
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 chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased activity:serum: RGD PMID:17067837 RGD:12743588 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
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 chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Turner syndrome ClinVar PMID:25741868 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNP: :rs7975232(human) RGD PMID:21823528 RGD:13432073 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15758
    disease of anatomical entity 15377
      endocrine system disease 6280
        gonadal disease 1362
          disorder of sexual development 233
            Sex Chromosome Disorders of Sex Development 25
              Klinefelter syndrome 17
              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 15758
    Developmental Disease 13759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12838
        genetic disease 12535
          chromosomal disease 3150
            Sex Chromosome Disorders 81
              Sex Chromosome Disorders of Sex Development 25
                Klinefelter syndrome 17
                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