Jump to:
loading...| Preferred Name |
Fragile X Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84717 |
| code |
C84717 |
| DEFINITION |
A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities. |
| label |
Fragile X Syndrome |
| Preferred_Name |
Fragile X Syndrome |
| prefixIRI |
C84717 |
| prefLabel |
Fragile X Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0016667 |
| subClassOf |
Create New Mapping