Preferred Name |
Fragile X syndrome |
|
Synonyms |
Fra(X)-Syndrom FXS |
|
ID |
http://www.limics.org/hrdo/rdfns#pat_id_120 |
|
ageOfDeath |
Normal Normal Normal Normale Normal Normal Normal |
|
ageOfOnset |
Kindesalter Infanzia Childhood Infância Infancia Childhood Enfance |
|
altLabel |
Fra(X)-Syndrom FXS FXS Martin-Bell syndrome Martin-Bell-Syndrom Síndrome de Fra-X Síndrome FraX FRAXA-Syndrom FRAXA syndrome Syndrome de Martin-Bell Sindrome FraX Sindrome di Martin-Bell Síndrome de Martin-Bell FraX syndrome FXS FXS Síndrome FRAXA Fra-X, síndrome de Syndrome FRAXA Syndrome FraX FXS Sindrome FRAXA |
|
id_MedDRA |
10017324 |
|
id_Medline | ||
id_MeSH |
D005600 |
|
id_MIM |
300624 |
|
id_OMS |
Q99.2 |
|
id_Orpha |
908 |
|
id_SNOMEDCT |
254287005 613003 |
|
id_UMLS |
C0016667 C0751156 |
|
inheritance |
X-linked dominant Dominant lié à l'X X-linked dominant Dominante ligado al X Dominante legata all'X Ligado ao X dominante X-chromosomal-dominant |
|
patType |
malformation syndrome |
|
prefixIRI |
hrdo:pat_id_120 |
|
prefLabel |
Sindrome dell'X fragile Syndrome de l'X fragile Fragiles X-Syndrom Síndrome de X-frágil Síndrome de X frágil Fragile X syndrome |
|
prevalence |
1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 |
|
subClassOf |