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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ANOS1
anosmin 1
ISO
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:5,163,638...5,363,835 NCBI chr Y:3,807,032...4,014,112
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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
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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
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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
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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
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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
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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
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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
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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 PMID:25741868 PMID:26045207 PMID:26204956 PMID:27512013 PMID:28492532 PMID:28589944 PMID:32319736 PMID:35253369 More...
NCBI chr 5:13,805,157...13,926,733
Ensembl chr 5:13,804,930...13,926,604
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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
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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
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PROKR2
prokineticin receptor 2
ISO
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 chr17:14,243,738...14,257,346
Ensembl chr17:14,242,515...14,257,307
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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