loading...| Preferred Name |
Fragile X Syndrome |
| Synonyms |
FXS |
| Definitions |
<p>Fragile X syndrome is the most common form of inherited <a href="https://medlineplus.gov/developmentaldisabilities.html">developmental disability</a>. A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for brain development. But the problem causes a person to make little or none of the protein. This causes the symptoms of Fragile X. </p> <p>People with only a small change in the gene might not show any signs of Fragile X. People with bigger changes can have severe symptoms. These might include:</p><ul> <li>Intelligence problems, ranging from learning disabilities to severe intellectual disabilities</li> <li>Social and emotional problems, such as aggression in boys or shyness in girls</li> <li>Speech and language problems, especially in boys</li> </ul> <p>A genetic blood test can diagnose Fragile X. There is no cure. You can treat some symptoms with educational, behavioral, or physical therapy, and with medicines. Getting treatment early can help.</p> <p class="">NIH: National Institute of Child Health and Human Development</p> |
| ID |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0016667 |
| altLabel |
FXS |
| cui |
C0016667 |
| Date created |
01/06/2004 |
| definition |
Fragile X syndrome is the most common form of inherited developmental disability. A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for brain development. But the problem causes a person to make little or none of the protein. This causes the symptoms of Fragile X. People with only a small change in the gene might not show any signs of Fragile X. People with bigger changes can have severe symptoms. These might include:
A genetic blood test can diagnose Fragile X. There is no cure. You can treat some symptoms with educational, behavioral, or physical therapy, and with medicines. Getting treatment early can help. NIH: National Institute of Child Health and Human Development |
| Inverse of RQ | |
| Inverse of SY | |
| Mapped from | |
| Mapped to | |
| MP OTHER LANGUAGE URL |
Spanish https://medlineplus.gov/spanish/fragilexsyndrome.html |
| MP PRIMARY INSTITUTE URL |
Eunice Kennedy Shriver National Institute of Child Health and Human Development https://www.nichd.nih.gov/Pages/index.aspx |
| notation |
C0016667 |
| prefLabel |
Fragile X Syndrome |
| Related to |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C1510586 |
| Scope Statement |
Fragile X syndrome is caused by a change in a gene and is passed from parent to child. Learn about symptoms and effects of this genetic disorder. https://medlineplus.gov/fragilexsyndrome.html |
| tui |
T047 |
| subClassOf |