DO_rare_slim NCIthesaurus has material basis in autosomal recessive disease Ellis-Van Creveld syndrome DOID:12714 UMLS_CUI:C0013903 ICD9CM:756.55 NCI:C84684 disease_ontology SNOMEDCT_US_2025_09_01:62501005 MESH:D004613 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. Chondroectodermal dysplasia GARD:1301 ICD10CM:Q77.6 MIM:225500 OMIM mapping confirmed by DO. [SN]. mesoectodermal dysplasia syndrome autosomal recessive inheritance