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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



show annotations for term's descendants           Sort by:
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:5,163,638...5,363,835
NCBI chr  Y:3,807,032...4,014,112
JBrowse link
G CCDC141 coiled-coil domain containing 141 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chr15:84,534,725...84,745,296
Ensembl chr15:84,535,905...84,734,182
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724
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 2:77,472,361...77,479,204
Ensembl chr 2:77,472,362...77,479,204
JBrowse link
G NHLH2 nescient helix-loop-helix 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 PMID:35066646 NCBI chr 4:104,852,287...104,858,042
Ensembl chr 4:104,857,635...104,858,042
JBrowse link
G NLGN3 neuroligin 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chr  X:57,174,506...57,204,770
Ensembl chr  X:57,176,103...57,201,461
JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr  X:124,982,307...124,997,098
Ensembl chr  X:124,983,943...124,997,072
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 5:9,905,359...9,917,721
Ensembl chr 5:9,855,983...9,917,726
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 5:13,805,157...13,926,733
Ensembl chr 5:13,804,930...13,926,604
JBrowse link
G POU6F2 POU class 6 homeobox 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr18:54,744,833...55,231,628
Ensembl chr18:54,748,790...55,231,511
JBrowse link
G PROK2 prokineticin 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr13:53,169,040...53,184,695
Ensembl chr13:53,169,524...53,185,171
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 chr17:14,243,738...14,257,346
Ensembl chr17:14,242,515...14,257,307
JBrowse link
G SEMA3F semaphorin 3F ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr13:32,641,376...32,671,231
Ensembl chr13:32,641,424...32,671,223
JBrowse link
G SOX10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 5:9,890,439...9,901,746
Ensembl chr 5:9,891,525...9,901,743
JBrowse link
G SOX11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:129,797,438...129,800,568
Ensembl chr 3:129,798,854...129,800,197
JBrowse link
G TACR3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 8:117,662,122...117,718,317
Ensembl chr 8:117,662,122...117,721,613
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 chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased activity:serum: RGD PMID:17067837 RGD:12743588 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
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 chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690
JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Turner syndrome ClinVar PMID:25741868 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223
JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNP: :rs7975232(human) RGD PMID:21823528 RGD:13432073 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15430
    disease of anatomical entity 15099
      endocrine system disease 6220
        gonadal disease 1349
          disorder of sexual development 230
            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 15430
    Developmental Disease 13490
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12612
        genetic disease 12321
          chromosomal disease 3091
            Sex Chromosome Disorders 80
              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