loading...| Preferred Name | Klinefelter's syndrome | |
| Synonyms |
hypogonadotropic hypogonadism Klinefelter's syndrome, XXY XXY syndrome (Klinefelter syndrome) XXY trisomy Hypogonadotropic Hypogonadism Klinefelter's syndrome XXY syndrome Klinefelter Syndrome Klinefelter syndrome 47,XXY syndrome |
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| Definitions |
A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present. 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.). |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_1001006 |
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| database_cross_reference |
MedDRA:10023463 NCIT:C34752 MeSH:D007713 MESH:D007713 icd11.foundation:1937385304 NCIt:C34752 SNOMEDCT:268300003 SCTID:405769009 UMLS:C0022735 MEDGEN:44033 NANDO:2200386 MONDO:0006823 DOID:1921 ICD9:758.7 |
|
| definition |
A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present. 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.). |
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| has_exact_synonym |
Klinefelter's syndrome, XXY XXY syndrome (Klinefelter syndrome) XXY trisomy Hypogonadotropic Hypogonadism Klinefelter's syndrome XXY syndrome Klinefelter Syndrome Klinefelter syndrome 47,XXY syndrome |
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| has_related_synonym |
hypogonadotropic hypogonadism |
|
| id |
EFO:1001006 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#inferred_rare |
|
| label |
Klinefelter's syndrome |
|
| notation |
EFO:1001006 |
|
| preferred label |
Klinefelter's syndrome |
|
| prefLabel |
Klinefelter's syndrome |
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| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/snomedct/405769009 http://linkedlifedata.com/resource/umls/id/C0022735 http://purl.obolibrary.org/obo/NCIT_C34752 http://purl.obolibrary.org/obo/EFO_1001006 http://purl.obolibrary.org/obo/DOID_1921 http://identifiers.org/mesh/D007713 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1937385304 |
|
| term editor |
Sirarat Sarntivijai |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0017975 http://www.ebi.ac.uk/efo/EFO_0000508 |
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| excluded_subClassOf |