loading...| Preferred Name |
Ellis Van Creveld syndrome |
|
| Synonyms |
Chondroectodermal dysplasia |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_287 |
|
| ageOfDeath |
Cualquier edad Alle Alter Qualquer idade Tout âge Any age Qualsiasi età Any age |
|
| ageOfOnset |
Neonatal/infancy Neonatale/prima infanzia Neonatal/infância Neonatal/infancy Neonatal / infancia Néonatal/petite enfance Neonatal/Kleinkindalter |
|
| altLabel |
Chondroectodermal dysplasia Displasia mesodermica Displasia condroectodermica Dysplasie mésoectodermique Displasia condroectodermica Dysplasie chondroectodermique Displasia condroectodérmica Mesodermic dysplasia |
|
| id_MedDRA |
10008724 |
|
| id_Medline | ||
| id_MeSH |
D004613 |
|
| id_MIM |
225500 |
|
| id_OMS |
Q77.6 |
|
| id_Orpha |
289 |
|
| id_SNOMEDCT |
62501005 |
|
| id_UMLS |
C0013903 |
|
| inheritance |
Autosómico recesivo Autosomal recessive Autossómica recessiva Autosomica recessiva Autosomal recessive Autosomique récessif Autosomal-rezessiv |
|
| patType |
malformation syndrome |
|
| prefixIRI |
hrdo:pat_id_287 |
|
| prefLabel |
Sindrome di Ellis-Van Creveld Síndrome de Ellis Van Creveld Ellis Van Creveld syndrome Síndrome de Ellis-Van Creveld Ellis Van Creveld-Syndrom Syndrome d'Ellis-Van Creveld |
|
| prevalence |
<1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 |
|
| subClassOf |