loading...| Preferred Name |
Klinefelter Syndrome [Disease/Finding] |
|
| Synonyms |
Klinefelter Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001759 |
|
| altLabel |
Klinefelter Syndrome Klinefelter's Syndrome XXY Syndrome |
|
| cui |
C0022735 |
|
| MESH DEFINITION |
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.). |
|
| MESH DUI |
D007713 |
|
| MeSH name |
Klinefelter Syndrome |
|
| MESH UI |
M0012062 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001759 |
|
| NUI |
N0000001759 |
|
| prefLabel |
Klinefelter Syndrome [Disease/Finding] |
|
| SNOMED CID |
405769009 |
|
| tui |
T047 |
|
| subClassOf |