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
For additional species annotation, visit the
Alliance of Genome Resources .
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Ccdc141
coiled-coil domain containing 141
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
NCBI chr 3:61,948,614...62,109,968
Ensembl chr 3:61,948,646...62,110,079
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Fgfr1
Fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:12627230 PMID:17200176 PMID:25636053 PMID:25741868
NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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Plxna3
plexin A3
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
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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 More...
NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
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Sema3f
semaphorin 3F
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr 8:108,357,629...108,387,083
Ensembl chr 8:108,357,629...108,387,083
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Spry4
sprouty RTK signaling antagonist 4
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr18:30,436,513...30,451,426
Ensembl chr18:30,436,443...30,453,004
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25101153
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Gh1
growth hormone 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15151564
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Igf1
insulin-like growth factor 1
ISO
protein:decreased activity:serum:
RGD
PMID:17067837
RGD:12743588
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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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 chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25101153
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25101153
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25101153
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Vdr
vitamin D receptor
susceptibility
ISO
DNA:SNP: :rs7975232(human)
RGD
PMID:21823528
RGD:13432073
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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