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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:1,035,112...1,235,112
Ensembl chr  X:8,396,290...8,598,406
JBrowse link
G CCDC141 coiled-coil domain containing 141 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chr2B:66,086,654...66,307,309 JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904
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 chr 4:56,295,425...56,314,962
Ensembl chr 4:62,687,474...62,706,167
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 chr19:211,563...215,332 JBrowse link
G NHLH2 nescient helix-loop-helix 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 PMID:35066646 NCBI chr 1:86,719,650...86,727,607
Ensembl chr 1:121,774,940...121,775,347
JBrowse link
G NLGN3 neuroligin 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chr  X:60,413,098...60,439,359
Ensembl chr  X:70,469,764...70,496,526
JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr  X:143,900,029...143,915,391
Ensembl chr  X:153,772,700...153,786,167
JBrowse link
G POLR2F RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr22:18,868,872...18,988,918
Ensembl chr22:36,796,015...36,814,469
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 chr12:103,936,650...104,083,470
Ensembl chr12:107,330,306...107,477,279
JBrowse link
G POU6F2 POU class 6 homeobox 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 7:39,613,073...40,104,152
Ensembl chr 7:39,875,708...40,330,667
JBrowse link
G PROK2 prokineticin 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 3:71,711,334...71,724,865
Ensembl chr 3:73,068,599...73,080,897
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 chr20:5,311,043...5,319,148
Ensembl chr20:5,102,997...5,106,655
JBrowse link
G SEMA3F semaphorin 3F ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 3:50,083,733...50,117,518
Ensembl chr 3:51,318,089...51,351,958
JBrowse link
G SOX10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr22:18,885,679...18,897,927
Ensembl chr22:36,713,310...36,723,439
JBrowse link
G SOX11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 PMID:28492532 NCBI chr2A:5,699,738...5,711,210 JBrowse link
G TACR3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 4:96,022,788...96,162,249
Ensembl chr 4:106,644,943...106,776,172
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 chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased activity:serum: RGD PMID:17067837 RGD:12743588 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
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 chr 7:46,564,234...46,573,145 JBrowse link
G LOC100971425 somatotropin ISO CTD Direct Evidence: therapeutic CTD PMID:15151564 NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067
JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Turner syndrome ClinVar PMID:25741868 NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453
JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr21:18,029,831...18,037,526 JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNP: :rs7975232(human) RGD PMID:21823528 RGD:13432073 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15834
    disease of anatomical entity 15490
      endocrine system disease 6235
        gonadal disease 1360
          disorder of sexual development 234
            Sex Chromosome Disorders of Sex Development 26
              Klinefelter syndrome 17
              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 15834
    Developmental Disease 13856
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12944
        genetic disease 12643
          chromosomal disease 3203
            Sex Chromosome Disorders 82
              Sex Chromosome Disorders of Sex Development 26
                Klinefelter syndrome 17
                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