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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 AC079385.1 novel transcript, antisense to POLR3B, RFX4 and RIC8B. IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:27512013 NCBI chr12:106,496,410...106,774,831
Ensembl chr12:106,495,958...106,774,926
JBrowse link
G ANOS1 anosmin 1 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:8504298 PMID:11297579 PMID:16199547 PMID:25741868 PMID:28492532 More... NCBI chr  X:8,528,874...8,732,137
Ensembl chr  X:8,528,874...8,732,137
JBrowse link
G CCDC141 coiled-coil domain containing 141 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G GNRHR gonadotropin releasing hormone receptor IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:7557974 PMID:9371856 PMID:9425890 PMID:10022417 PMID:10084584 More... NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388
JBrowse link
G KISS1R KISS1 receptor IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:14573733 PMID:23349759 PMID:25741868 PMID:28492532 PMID:31073722 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005
JBrowse link
G NHLH2 nescient helix-loop-helix 2 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 PMID:35066646 NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917
JBrowse link
G NLGN3 neuroligin 3 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chr  X:71,144,841...71,175,307
Ensembl chr  X:71,144,821...71,175,255
JBrowse link
G PLXNA3 plexin A3 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr  X:154,458,281...154,477,779
Ensembl chr  X:154,458,281...154,477,779
JBrowse link
G POLR2F RNA polymerase II, I and III subunit F IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr22:37,953,663...38,041,915
Ensembl chr22:37,952,607...38,041,915
JBrowse link
G POLR3B RNA polymerase III subunit B IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 More... NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198
JBrowse link
G POU6F2 POU class 6 homeobox 2 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 7:38,977,909...39,468,601
Ensembl chr 7:38,977,909...39,493,095
JBrowse link
G PROK2 prokineticin 2 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206
JBrowse link
G PROKR2 prokineticin receptor 2 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:16537498 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18723471 More... NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954
JBrowse link
G SEMA3F semaphorin 3F IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 3:50,155,058...50,189,075
Ensembl chr 3:50,155,045...50,189,075
JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422
JBrowse link
G SOX11 SRY-box transcription factor 11 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385
JBrowse link
G TACR3 tachykinin receptor 3 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985
JBrowse link
G TACR3-AS1 TACR3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 4:103,548,745...103,624,451
Ensembl chr 4:103,548,745...103,624,534
JBrowse link
Turner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAT catalase EXP CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G GH1 growth hormone 1 EXP CTD Direct Evidence: therapeutic CTD PMID:15151564 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839
JBrowse link
G IGF1 insulin like growth factor 1 IEP protein:decreased activity:serum: RGD PMID:17067837 RGD:12743588 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 treatment IDA DNA:SNP: :¿¿¿202 A>C(rs2854744)(human) RGD PMID:17067837 PMID:22278433 RGD:12743588, RGD:12743598 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
JBrowse link
G NOS2 nitric oxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Turner syndrome ClinVar PMID:25741868 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G SOD1 superoxide dismutase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G VDR vitamin D receptor susceptibility IAGP DNA:SNP: :rs7975232(human) RGD PMID:21823528 RGD:13432073 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 121159
    disease of anatomical entity 111930
      endocrine system disease 19499
        gonadal disease 2561
          disorder of sexual development 304
            Sex Chromosome Disorders of Sex Development 28
              Klinefelter syndrome 19
              Male Sterility due to Y-Chromosome Deletions 0
              Triple X Syndrome 0
              Turner syndrome + 9
              freemartinism 0
              mixed gonadal dysgenesis + 0
Path 2
Term Annotations click to browse term
  disease 121159
    Developmental Disease 43253
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 36549
        genetic disease 34717
          chromosomal disease 7810
            Sex Chromosome Disorders 139
              Sex Chromosome Disorders of Sex Development 28
                Klinefelter syndrome 19
                Male Sterility due to Y-Chromosome Deletions 0
                Triple X Syndrome 0
                Turner syndrome + 9
                freemartinism 0
                mixed gonadal dysgenesis + 0
paths to the root