loading...| Preferred Name |
Ellis Van Creveld syndrome |
|
| Synonyms |
Chondroectodermal dysplasia |
|
| Definitions |
A rare chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_289 |
|
| alternative_term |
Chondroectodermal dysplasia Mesodermic dysplasia |
|
| definition |
A rare chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289 |
|
| has_age_of_onset |
Antenatal Neonatal |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
ICD-10:Q77.6 MedDRA:10008724 MeSH:D004613 UMLS:C0013903 OMIM:225500 ICD-11:LD27.0Y OMIM:617088 OMIM:618123 |
|
| label |
Ellis Van Creveld syndrome |
|
| notation |
ORPHA:289 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_93587 http://www.orpha.net/ORDO/Orphanet_1505 http://www.orpha.net/ORDO/Orphanet_156532 http://www.orpha.net/ORDO/Orphanet_156165 http://www.orpha.net/ORDO/Orphanet_156162 |
|
| prefixIRI |
ORDO:Orphanet_289 |
|
| prefLabel |
Ellis Van Creveld syndrome |
|
| present_in |
Europe AND has_birth_prevalence_average_value : 0.4 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown Specific population AND has_birth_prevalence_average_value : 500.0 AND has_birth_prevalence_range : >1 / 1000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_93587 http://www.orpha.net/ORDO/Orphanet_1505 http://www.orpha.net/ORDO/Orphanet_156532 http://www.orpha.net/ORDO/Orphanet_156165 http://www.orpha.net/ORDO/Orphanet_156162 |
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| subClassOf |