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Klinefelter Syndrome

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Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Abnormalities ∟ Chromosome Disorders ∟ Sex Chromosome Disorders ∟ Klinefelter Syndrome 13 coordinate concepts ∟ Eunuchism \| ∟ Kallmann Syndrome \| ∟ Sexual Infantilism \| ∟ Fragile X Syndrome \| ∟ Gonadal Dysgenesis, 46,XY \| ∟ Gonadal Dysgenesis, Mixed \| ∟ Orofaciodigital Syndromes \| ∟ Turner Syndrome \| ∟ Adrenogenital Syndrome \| ∟ Freemartinism \| ∟ Gonadal Dysgenesis \| ∟ Hermaphroditism \| ∟ Hyperandrogenism Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Abnormalities ∟ Urogenital Abnormalities ∟ Sex Differentiation Disorders ∟ Klinefelter Syndrome 13 coordinate concepts ∟ Eunuchism \| ∟ Kallmann Syndrome \| ∟ Sexual Infantilism \| ∟ Fragile X Syndrome \| ∟ Gonadal Dysgenesis, 46,XY \| ∟ Gonadal Dysgenesis, Mixed \| ∟ Orofaciodigital Syndromes \| ∟ Turner Syndrome \| ∟ Adrenogenital Syndrome \| ∟ Freemartinism \| ∟ Gonadal Dysgenesis \| ∟ Hermaphroditism \| ∟ Hyperandrogenism Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Chromosome Disorders ∟ Sex Chromosome Disorders ∟ Klinefelter Syndrome 13 coordinate concepts ∟ Eunuchism \| ∟ Kallmann Syndrome \| ∟ Sexual Infantilism \| ∟ Fragile X Syndrome \| ∟ Gonadal Dysgenesis, 46,XY \| ∟ Gonadal Dysgenesis, Mixed \| ∟ Orofaciodigital Syndromes \| ∟ Turner Syndrome \| ∟ Adrenogenital Syndrome \| ∟ Freemartinism \| ∟ Gonadal Dysgenesis \| ∟ Hermaphroditism \| ∟ Hyperandrogenism Medical Subject Headings (MeSH) ∟ Endocrine System Diseases ∟ Gonadal Disorders ∟ Hypogonadism ∟ Klinefelter Syndrome 13 coordinate concepts ∟ Eunuchism \| ∟ Kallmann Syndrome \| ∟ Sexual Infantilism \| ∟ Fragile X Syndrome \| ∟ Gonadal Dysgenesis, 46,XY \| ∟ Gonadal Dysgenesis, Mixed \| ∟ Orofaciodigital Syndromes \| ∟ Turner Syndrome \| ∟ Adrenogenital Syndrome \| ∟ Freemartinism \| ∟ Gonadal Dysgenesis \| ∟ Hermaphroditism \| ∟ Hyperandrogenism Medical Subject Headings (MeSH) ∟ Endocrine System Diseases ∟ Gonadal Disorders ∟ Sex Differentiation Disorders ∟ Klinefelter Syndrome 13 coordinate concepts ∟ Eunuchism \| ∟ Kallmann Syndrome \| ∟ Sexual Infantilism \| ∟ Fragile X Syndrome \| ∟ Gonadal Dysgenesis, 46,XY \| ∟ Gonadal Dysgenesis, Mixed \| ∟ Orofaciodigital Syndromes \| ∟ Turner Syndrome \| ∟ Adrenogenital Syndrome \| ∟ Freemartinism \| ∟ Gonadal Dysgenesis \| ∟ Hermaphroditism \| ∟ Hyperandrogenism Medical Subject Headings (MeSH) ∟ Female Urogenital Diseases and Pregnancy Complications ∟ Female Urogenital Diseases ∟ Urogenital Abnormalities ∟ Sex Differentiation Disorders ∟ Klinefelter Syndrome 13 coordinate concepts ∟ Eunuchism \| ∟ Kallmann Syndrome \| ∟ Sexual Infantilism \| ∟ Fragile X Syndrome \| ∟ Gonadal Dysgenesis, 46,XY \| ∟ Gonadal Dysgenesis, Mixed \| ∟ Orofaciodigital Syndromes \| ∟ Turner Syndrome \| ∟ Adrenogenital Syndrome \| ∟ Freemartinism \| ∟ Gonadal Dysgenesis \| ∟ Hermaphroditism \| ∟ Hyperandrogenism Medical Subject Headings (MeSH) ∟ Male Urogenital Diseases ∟ Urogenital Abnormalities ∟ Sex Differentiation Disorders ∟ Klinefelter Syndrome 13 coordinate concepts ∟ Eunuchism \| ∟ Kallmann Syndrome \| ∟ Sexual Infantilism \| ∟ Fragile X Syndrome \| ∟ Gonadal Dysgenesis, 46,XY \| ∟ Gonadal Dysgenesis, Mixed \| ∟ Orofaciodigital Syndromes \| ∟ Turner Syndrome \| ∟ Adrenogenital Syndrome \| ∟ Freemartinism \| ∟ Gonadal Dysgenesis \| ∟ Hermaphroditism \| ∟ Hyperandrogenism X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Abnormalities ∟ Chromosome Disorders ∟ Sex Chromosome Disorders ∟ Klinefelter Syndrome Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Abnormalities ∟ Urogenital Abnormalities ∟ Sex Differentiation Disorders ∟ Klinefelter Syndrome Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Chromosome Disorders ∟ Sex Chromosome Disorders ∟ Klinefelter Syndrome Medical Subject Headings (MeSH) ∟ Endocrine System Diseases ∟ Gonadal Disorders ∟ Hypogonadism ∟ Klinefelter Syndrome Medical Subject Headings (MeSH) ∟ Endocrine System Diseases ∟ Gonadal Disorders ∟ Sex Differentiation Disorders ∟ Klinefelter Syndrome Medical Subject Headings (MeSH) ∟ Female Urogenital Diseases and Pregnancy Complications ∟ Female Urogenital Diseases ∟ Urogenital Abnormalities ∟ Sex Differentiation Disorders ∟ Klinefelter Syndrome Medical Subject Headings (MeSH) ∟ Male Urogenital Diseases ∟ Urogenital Abnormalities ∟ Sex Differentiation Disorders ∟ Klinefelter Syndrome Sex Chromosome Disorders > Chromosome Disorders > Abnormalities > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Sex Differentiation Disorders > Urogenital Abnormalities > Abnormalities > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Sex Chromosome Disorders > Chromosome Disorders > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Hypogonadism > Gonadal Disorders > Endocrine System Diseases > Medical Subject Headings (MeSH) Sex Differentiation Disorders > Gonadal Disorders > Endocrine System Diseases > Medical Subject Headings (MeSH) Sex Differentiation Disorders > Urogenital Abnormalities > Female Urogenital Diseases > Female Urogenital Diseases and Pregnancy Complications > Medical Subject Headings (MeSH) Sex Differentiation Disorders > Urogenital Abnormalities > Male Urogenital Diseases > Medical Subject Headings (MeSH) X
Annotation:	index here karyotypes XXXY, XXXXY, XXYY, XXXYY, XX/XXY, XX/YY, XY/XXY, XXY/XXXY, XXY/XXYY, XY/XXY/XXXY if called KLINEFELTER SYNDROME by author but if not so named by author, index under SEX CHROMOSOME DISORDERS X
Scope note:	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.). X
activeMeSHYear*:	2007X
dateCreated*:	1999-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	NLMX
Type:	Concept X
Coordinate terms:	Eunuchism \| Kallmann Syndrome \| Sexual Infantilism \| Fragile X Syndrome \| Gonadal Dysgenesis, 46,XY \| Gonadal Dysgenesis, Mixed \| Orofaciodigital Syndromes \| Turner Syndrome \| Adrenogenital Syndrome \| Freemartinism \| Gonadal Dysgenesis \| Hermaphroditism \| Hyperandrogenism X
URI:	X
Labels and equivalent concepts:	Klinefelterin oireyhtymä (fi) XXY-oireyhtymä (fi, replaced) Klinefelterin syndrooma (fi, replaced) Klinefelters syndrom (sv) Klinefelter's Syndrome (en, replaced) Syndroma Klinefelter (la-FI, replaced) X
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