loading...| Preferred Name | Klinefelter syndrome | |
| Synonyms |
hypogonadotropic hypogonadism 47,XXY syndrome Klinefelter syndrome Klinefelter's syndrome, XXY XXY syndrome (Klinefelter syndrome) XXY syndrome Klinefelter's syndrome XXY trisomy |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0006823 |
|
| closeMatch | ||
| database_cross_reference |
EFO:1001006 DOID:1921 MedDRA:10023463 MESH:D007713 NCIT:C34752 SCTID:405769009 ICD9:758.7 UMLS:C0022735 |
|
| 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. |
|
| disease has feature | ||
| exactMatch |
http://identifiers.org/snomedct/405769009 http://linkedlifedata.com/resource/umls/id/C0022735 http://purl.obolibrary.org/obo/NCIT_C34752 |
|
| has_exact_synonym |
47,XXY syndrome Klinefelter syndrome Klinefelter's syndrome, XXY XXY syndrome (Klinefelter syndrome) XXY syndrome Klinefelter's syndrome XXY trisomy |
|
| has_related_synonym |
hypogonadotropic hypogonadism |
|
| id |
MONDO:0006823 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare |
|
| label |
Klinefelter syndrome |
|
| notation |
MONDO:0006823 |
|
| prefLabel |
Klinefelter syndrome |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0017975 |
|
| excluded subClassOf | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0017975 |