loading...| Preferred Name |
Cornelia de Lange syndrome |
|
| Synonyms |
Brachmann-de Lange syndrome |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_299 |
|
| 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 |
Brachmann-de Lange syndrome Sindrome di Brachmann-de Lange Síndrome de Brachman-de Lange Brachman-de Lange, síndrome de Syndrome de Brachmann-de Lange Brachmann-de Lange-Syndrom |
|
| id_MedDRA |
10056354 |
|
| id_Medline | ||
| id_MeSH |
D003635 |
|
| id_MIM |
122470 300590 300882 610759 614701 |
|
| id_OMS |
Q87.1 |
|
| id_Orpha |
199 |
|
| id_SNOMEDCT |
40354009 |
|
| id_UMLS |
C0270972 |
|
| inheritance |
X-linked recessive Recesivo ligado al X Ligado ao X recessivo Recessiva legata all'X Autosomal dominant Autosomique dominant X-linked recessive Autosomal dominant Autosomica dominante Récessif lié à l'X Autosómico dominate Autosomal-dominant Autossómica dominante X-chromosomal-rezessiv |
|
| patType |
malformation syndrome |
|
| prefixIRI |
hrdo:pat_id_299 |
|
| prefLabel |
Síndrome de Cornelia de Lange (CdLS) Sindrome di Cornelia de Lange Cornelia de Lange syndrome Síndrome de Cornelia de Lange Cornelia de Lange-Syndrom Syndrome de Cornelia de Lange |
|
| 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 |