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 |
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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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0006823 |
|
| altLabel |
hypogonadotropic hypogonadism 47,XXY syndrome Klinefelter syndrome Klinefelter's syndrome, XXY XXY syndrome (Klinefelter syndrome) XXY syndrome Klinefelter's syndrome XXY trisomy |
|
| 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. |
|
| has_exact_synonym |
47,XXY syndrome Klinefelter syndrome Klinefelter's syndrome, XXY XXY syndrome (Klinefelter syndrome) XXY syndrome Klinefelter's syndrome XXY trisomy |
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| has_related_synonym |
hypogonadotropic hypogonadism |
|
| label |
Klinefelter syndrome |
|
| prefixIRI |
MONDO:0006823 |
|
| prefLabel |
Klinefelter syndrome |
|
| textual 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. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0017975 http://purl.obolibrary.org/obo/MONDO_0700065 http://purl.obolibrary.org/obo/MONDO_0005027 |