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Term:Klinefelter's syndrome
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Accession:DOID:1921 term browser browse the term
Definition:A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
Synonyms:exact_synonym: 48,XXYY Syndrome;   49,XXXXY Syndrome;   Hypogonadotropic Hypogonadism;   Klinefelter Syndrome, Variants;   Klinefelter Syndromes;   Klinefelter Syndromes, Variants;   Klinefelter syndrome;   Klinefelters Syndrome;   XXXY Male;   XXXY Males;   XXY Syndrome;   XXY Syndromes;   XXY Trisomies;   XXY Trisomy;   Xxyy Syndrome;   Xxyy Syndromes
 primary_id: MESH:D007713;   RDO:0000142
 xref: GARD:8705;   ICD10CM:Q98.0;   ICD10CM:Q98.4;   ICD9CM:758.7;   NCI:C34752
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Klinefelter's syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anos1 anosmin 1 RGD:8554872
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:8554872
G Gnrhr gonadotropin releasing hormone receptor JBrowse link 14 23,480,462 23,498,450 RGD:8554872
G Hs6st1 heparan sulfate 6-O-sulfotransferase 1 JBrowse link 9 42,620,006 42,659,184 RGD:8554872
G Prokr2 prokineticin receptor 2 JBrowse link 3 125,006,180 125,021,020 RGD:8554872
G Rnf216 ring finger protein 216 JBrowse link 12 13,508,429 13,631,689 RGD:8554872
G Tac3 tachykinin precursor 3 JBrowse link 7 71,023,976 71,030,582 RGD:8554872
G Tacr3 tachykinin receptor 3 JBrowse link 2 240,021,152 240,118,971 RGD:8554872

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Path 1
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  disease 15553
    syndrome 5224
      Klinefelter's syndrome 8
Path 2
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  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        Congenital Abnormalities 3730
          Urogenital Abnormalities 236
            sex development disorder 102
              Sex Chromosome Disorders of Sex Development 16
                Klinefelter's syndrome 8
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.