loading...| Preferred Name |
fragile X syndrome |
|
| Synonyms |
|
|
| Definitions |
An X-linked syndrome that is characterized by moderate to severe intellectual disability, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has material basis in X-linked inheritance and a loss of FMR1 function. |
|
| ID |
http://purl.obolibrary.org/obo/GSSO_006979 |
|
| definition |
An X-linked syndrome that is characterized by moderate to severe intellectual disability, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has material basis in X-linked inheritance and a loss of FMR1 function. A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, seizures, language delay, and enlargement of the ears, head, and testes. intellectual disability occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. |
|
| Disease Ontology ID | ||
| has database cross reference | ||
| is referenced by | ||
| label |
fragile X syndrome |
|
| Medical Dictionary for Regulatory Activities ID | ||
| MeSH Descriptor ID | ||
| NCI Thesaurus ID | ||
| prefixIRI |
GSSO:006979 |
|
| prefLabel |
fragile X syndrome |
|
| replaces |
fragile X mental retardation syndrome |
|
| short name |
FXS |
|
| SNOMED CT Identifier | ||
| subClassOf |