loading...| Preferred Name |
Ellis-Van Creveld Syndrome |
|
| Synonyms |
Chondroectodermal Dysplasia Ellis-Van Creveld Syndrome |
|
| Definitions |
A rare autosomal recessive syndrome caused by mutations in the EVC gene. It is characterized by dwarfism, small chest, ectodermal dysplasia, and postaxial polydactyly. There is an increased frequency of congenital heart malformations. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84684 |
|
| code |
C84684 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
|
| Contributing_Source |
Cellosaurus NICHD |
|
| DEFINITION |
A rare autosomal recessive syndrome caused by mutations in the EVC gene. It is characterized by dwarfism, small chest, ectodermal dysplasia, and postaxial polydactyly. There is an increased frequency of congenital heart malformations. |
|
| FULL_SYN |
Chondroectodermal Dysplasia Ellis-Van Creveld Syndrome |
|
| label |
Ellis-Van Creveld Syndrome |
|
| Preferred_Name |
Ellis-Van Creveld Syndrome |
|
| prefixIRI |
Thesaurus:C84684 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0013903 |
|
| subClassOf |