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Klinefelter syndrome
Summary
- Synonym
-
- 47, XXY
- Hypogonadotropic Hypogonadism
- Klinefelter's syndrome
- XXY syndrome
- XXY trisomy
- Definition
- A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men.
- Super Class
- chromosomal duplication syndrome
External Links
- Disease Ontology
- DOID:1921
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 412 | STS | steroid sulfatase | |
| 1588 | CYP19A1 | cytochrome P450 family 19 subfamily A member 1 | |
| 2710 | GK | glycerol kinase | |
| 6646 | SOAT1 | sterol O-acyltransferase 1 | |
| 10682 | EBP | EBP cholestenol delta-isomerase | |
| 10908 | PNPLA6 | patatin like phospholipase domain containing 6 | |
| 11141 | IL1RAPL1 | interleukin 1 receptor accessory protein like 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08842 | Steryl-sulfatase | |
| P32189 | Glycerol kinase | |
| P35610 | Sterol O-acyltransferase 1 | |
| Q15125 | 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase | |
| Q8IY17 | Patatin-like phospholipase domain-containing protein 6 | |
| Q9NZN1 | Interleukin-1 receptor accessory protein-like 1 |
