loading...| Preferred Name |
Klinefelter Syndrome |
| Synonyms |
48,XXYY Syndrome |
| Definitions |
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.). |
| ID |
http://purl.bioontology.org/ontology/MESH/D007713 |
| altLabel |
48,XXYY Syndrome Syndrome, Variants Klinefelter XXY Syndrome Klinefelter's Syndrome 49,XXXXY Syndrome Klinefelter Syndrome, Variants Xxyy Syndrome Klinefelter Syndromes, Variants Klinefelter Syndromes XXY Syndromes Syndromes, Variants Klinefelter Trisomies, XXY XXY Trisomy XXXY Male Trisomy, XXY Syndrome, XXY Syndromes, Xxyy Syndromes, Klinefelter XXY Trisomies Xxyy Syndromes XXXY Males Syndromes, XXY Klinefelters Syndrome Syndrome, Klinefelter Syndrome, Klinefelter's Syndrome, Xxyy |
| AN |
index here karyotypes XXXY, XXXXY, XXYY, XXXYY, XX/XXY, XX/YY, XY/XXY, XXY/XXXY, XXY/XXYY, XY/XXY/XXXY if called KLINEFELTER SYNDROME by author but if not so named by author, index under SEX CHROMOSOME DISORDERS |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
| cui |
C0022735 C2930823 C0265499 C0543754 C2936741 C2936740 |
| DC |
1 |
| 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.). |
| DX |
19660101 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| MDA |
19990101 |
| MMR |
20210630 |
| MN |
C19.391.482.629 C12.050.351.875.253.795.500 C16.131.260.830.835.500 C16.320.180.830.835.500 C19.391.119.795.500 C12.800.316.795.500 C16.131.939.316.795.500 C12.200.706.316.795.500 |
| notation |
D007713 |
| prefLabel |
Klinefelter Syndrome |
| TERMUI |
T769939 T840797 T845000 T769941 T769942 T782689 T769940 T023149 T432071 |
| TH |
NLM (2011) NLM (2002) NLM (1966) NLM (2014) NLM (2012) ORD (2010) GHR (2014) |
| tui |
T049 T019 T047 |
| subClassOf |