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
Accession: DOID:9003262
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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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
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ANOS1
anosmin 1
IAGP
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:8504298 PMID:11297579 PMID:16199547 PMID:25741868 PMID:28492532 PMID:28915117 PMID:36268624 PMID:36917044 More...
NCBI chr X:8,528,874...8,732,137
Ensembl chr X:8,528,874...8,732,137
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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
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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
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GNRHR
gonadotropin releasing hormone receptor
IAGP
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:7557974 PMID:9371856 PMID:9425890 PMID:10022417 PMID:10084584 PMID:10690855 PMID:10999776 PMID:11397842 PMID:11397871 PMID:12057744 PMID:12364481 PMID:12574221 PMID:12679486 PMID:15728205 PMID:16968799 PMID:17235395 PMID:20389088 PMID:20696889 PMID:21292259 PMID:21645587 PMID:21664240 PMID:22724017 PMID:22745237 PMID:23155690 PMID:23643382 PMID:23650335 PMID:24732674 PMID:25016926 PMID:25077900 PMID:25741868 PMID:26207952 PMID:26467025 PMID:26792935 PMID:28348023 PMID:28492532 PMID:28611058 PMID:29182666 PMID:30476149 PMID:32870266 PMID:33223529 PMID:33968656 PMID:34403359 PMID:36407308 More...
NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388
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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
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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
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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
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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
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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
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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 PMID:25741868 PMID:26045207 PMID:26204956 PMID:27512013 PMID:28492532 PMID:28589944 PMID:32319736 PMID:35253369 More...
NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198
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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
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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
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PROKR2
prokineticin receptor 2
IAGP
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:16537498 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18723471 PMID:18826963 PMID:20022991 PMID:20696889 PMID:21209029 PMID:21247312 PMID:22035731 PMID:22466334 PMID:22773735 PMID:23386640 PMID:23643382 PMID:24031091 PMID:24276467 PMID:24830383 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29161432 More...
NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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