loading...| Preferred Name |
Fragile X Syndrome [Disease/Finding] |
|
| Synonyms |
Marker X Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001290 |
|
| altLabel |
Marker X Syndrome Fragile X Mental Retardation Syndrome Fragile X Syndrome X-Linked Mental Retardation and Macroorchidism Mental Retardation, X-Linked, Associated With Marxq28 Martin-Bell Syndrome Fra(X) Syndrome |
|
| cui |
C0016667 |
|
| MESH DEFINITION |
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. (From Menkes, Textbook of Child Neurology, 5th ed, p226) |
|
| MESH DUI |
D005600 |
|
| MeSH name |
Fragile X Syndrome |
|
| MESH UI |
M0008811 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001290 |
|
| NUI |
N0000001290 |
|
| prefLabel |
Fragile X Syndrome [Disease/Finding] |
|
| SNOMED CID |
613003 |
|
| tui |
T047 |
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| subClassOf |