loading...| Preferred Name | Klinefelter's syndrome | |
| Synonyms |
XXY trisomy Hypogonadotropic Hypogonadism XXY syndrome Klinefelter syndrome kleinfelters syndrome (xxy) |
|
| Definitions |
No OMIM mapping, confirmed by DO. [LS]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_1921 |
|
| comment |
No OMIM mapping, confirmed by DO. [LS]. |
|
| database_cross_reference |
MESH:D007713 ICD10CM:Q98.0 ICD10CM:Q98.4 UMLS_CUI:C0022735 NCI2004_11_17:C34752 SNOMEDCT_US_2018_03_01:22053006 MTHICD9_2006:758.7 CSP2005:1254-8437 ICD9CM:758.7 GARD:8705 NCI:C34752 |
|
| fromILAE |
true |
|
| has exact synonym |
XXY trisomy Hypogonadotropic Hypogonadism XXY syndrome Klinefelter syndrome kleinfelters syndrome (xxy) |
|
| has_obo_namespace |
disease_ontology |
|
| hasDefinition |
Klinefelter's syndrome is a common sex chromosomal abnormality and the most common cause of male hypogonadism. This syndrome is characterized by cognitive and behavioral dysfunction and hypogonadism. Seizures usually start between 3 months and 3 years of age and are typically well controlled with anti-seizure medication. Variable electroclinical characteristics may be seen from patient to patient, however generalized seizures (absence, tonic-clonic) are common seizure types. This disorder is diagnosed on routine karyotype examination. |
|
| id |
DOID:1921 |
|
| imported from | ||
| in subset | ||
| label |
Klinefelter's syndrome |
|
| notation |
DOID:1921 |
|
| prefLabel |
Klinefelter's syndrome |
|
| subClassOf |