Preferred Name | Fragile X Syndrome | |
Synonyms |
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ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Fragile_X_Syndrome |
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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. |
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label |
Fragile X Syndrome |
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prefixIRI |
Thesaurus:Fragile_X_Syndrome |
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prefLabel |
Fragile X Syndrome |
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subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder |
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