| Metadata | |
|---|---|
| ID | DOID:12714 |
| Name | Ellis-Van Creveld syndrome |
| Definition | A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2. https://www.ncbi.nlm.nih.gov/pubmed/10700184, https://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:62501005 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Chondroectodermal dysplasia [EXACT] mesoectodermal dysplasia [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |