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: Klinefelter syndrome
Accession: DOID:1921
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Definition: A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men. (DO)
Synonyms: exact_synonym: 47, XXY; 48,XXYY syndrome; 49,XXXXY Syndrome; Hypogonadotropic Hypogonadism; Klinefelter Syndrome, Variants; Klinefelter Syndromes, Variants; Klinefelter syndromes; Klinefelter's syndrome; Klinefelters syndrome; XXXY Male; XXXY Males; XXY Syndrome; XXY Syndromes; XXY Trisomies; XXY trisomy; XXYY syndrome; XXYY syndromes
primary_id: MESH:D007713
xref: EFO:1001006 ; GARD:8705 ; ICD10CM:Q98.0 ; ICD9CM:758.7 ; NCI:C185635 ; NCI:C34752
For additional species annotation, visit the
Alliance of Genome Resources .
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Anos1
anosmin 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
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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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Chd7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:15300250 PMID:16155193 PMID:18073582 PMID:20884005 PMID:21158681 PMID:22539353 PMID:25472840 PMID:25741868 PMID:28492532 More...
NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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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 PMID:28492532 PMID:32853167 PMID:33548149 More...
NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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Gnrhr
gonadotropin releasing hormone receptor
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:9371856 PMID:9425890 PMID:10022417 PMID:10084584 PMID:10690855 PMID:12574221 PMID:16968799 PMID:22724017 PMID:22745237 PMID:24732674 PMID:25741868 PMID:26207952 PMID:28492532 PMID:28611058 PMID:29182666 PMID:32870266 PMID:33223529 More...
NCBI chr14:21,856,871...21,874,861
Ensembl chr14:21,856,871...21,874,861
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Hs6st1
heparan sulfate 6-O-sulfotransferase 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr 9:38,283,502...38,322,684
Ensembl chr 9:38,282,395...38,322,683
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Kiss1r
KISS1 receptor
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
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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 2:189,444,287...189,449,625
Ensembl chr 2:189,442,711...189,449,625
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Nlgn3
neuroligin 3
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
NCBI chr X:66,427,926...66,457,378
Ensembl chr X:66,429,458...66,451,876
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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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Pou6f2
POU class 6 homeobox 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr17:46,471,819...46,922,406
Ensembl chr17:46,472,181...46,921,039
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Prok2
prokineticin 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385
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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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Tacr3
tachykinin receptor 3
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr 2:223,266,536...223,363,791
Ensembl chr 2:223,266,536...223,363,791
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Wdr11
WD repeat domain 11
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism
ClinVar
PMID:20887964 PMID:25741868 PMID:28492532
NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846
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