loading...| Preferred Name |
Apert syndrome |
|
| Synonyms |
ACS 1 |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_261 |
|
| ageOfDeath |
Normal Normal Normal Normale Normal Normal Normal |
|
| ageOfOnset |
Neonatal/infancy Neonatale/prima infanzia Neonatal/infância Neonatal/infancy Neonatal / infancia Néonatal/petite enfance Neonatal/Kleinkindalter |
|
| altLabel |
ACS 1 ACS 1 ACS 1 Akrozephalosyndaktylie Typ 1 Acrocefalosindactilia tipo 1 Acrocefalossindactilia tipo 1 (ACPS 1) Acro-céphalo-syndactylie type 1 ACPS I ACS 1 Acrocefalosindattilia, tipo 1 Acrocephalosyndactyly type 1 |
|
| id_MedDRA |
10002943 |
|
| id_Medline | ||
| id_MeSH |
D000168 |
|
| id_MIM |
101200 |
|
| id_OMS |
Q87.0 |
|
| id_Orpha |
87 |
|
| id_SNOMEDCT |
205258009 |
|
| id_UMLS |
C0001193 |
|
| inheritance |
Autosomal dominant Autosomique dominant Autosomal dominant Autosomica dominante Autosómico dominate Autosomal-dominant Autossómica dominante |
|
| patType |
malformation syndrome |
|
| prefixIRI |
hrdo:pat_id_261 |
|
| prefLabel |
Syndrome d'Apert Apert-Syndrom Síndrome de Apert Sindrome di Apert Apert syndrome Síndrome de Apert |
|
| prevalence |
1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 |
|
| subClassOf |