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AttributesValues
rdf:type
rdfs:label
  • Klinefelter Syndrome
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Klinefelter Syndrome
UMLS_CUI
  • C0022735
Contributing_Source
  • NICHD
ALT_DEFINITION
  • A genetic disorder in males caused by having one or more extra X chromosomes. Males with this disorder may have larger than normal breasts, a lack of facial and body hair, a rounded body type, and small testicles. They may learn to speak much later than other children and may have difficulty learning to read and write. Klinefelter syndrome increases the risk of developing extragonadal germ cell tumors and breast cancer.NCI-GLOSS
  • genetic disease that produces sterile males with small testes lacking sperm due to XXY karyotype.CSP2003
  • A SEX CHROMOSOME DISORDER characterized by small testes, underdevelopment of secondary sexual characteristics, infertility (INFERTILITY, MALE), hyalinization and fibrosis of the seminiferous tubules, and elevated levels of gonadotropin. 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 variants include those with the karyotypes 48,XXYY; 48,XXXY; 49,XXXXY, and several mosaic patterns (46,XY/47,XXY; 47,XXY/48,XXXY, etc.).MSH2003_2003_05_12
Legacy_Concept_Name
  • Klinefelter_s_Syndrome
FULL_SYN
  • Klinefelter's SyndromeSYNCI
  • XXY SyndromeSYNCI
  • XXY Syndrome (Klinefelter Syndrome)SYNCI
  • Klinefelter syndromePTNCI-GLOSSCDR0000304688
  • Klinefelter's Syndrome, XXYPTNICHD
  • Hypogonadotropic HypogonadismSYNCI
  • Klinefelter SyndromePTNCI
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.NCI
code
  • C34752
is someValuesFrom of
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