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Klinefelter syndrome

Disease Summary
Associated Targets (34)
Tbio

25

Tchem

6

Tclin

3


Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0006823:  Klinefelter syndrome
COHD:4228490: 
EFO:1001006: 
MESH:D007713: 
NCIT:C34752: 
SCTID:405769009: 
UMLS:C0022735: