_:vb50948553 . "ICD10CM:Q77.6"^^ . "UMLS_CUI:C0013903"^^ . "mesoectodermal dysplasia"@en . "MESH:D004613"^^ . . "disease_ontology"^^ . _:vb50948553 . _:vb50948553 . "OMIM:225500"^^ . "OMIM mapping confirmed by DO. [SN]."^^ . "Chondroectodermal dysplasia"@en . "Ellis-van Creveld syndrome"@en . . "DOID:12714"^^ . "ICD9CM:756.55"^^ . . . "GARD:1301"^^ . _:vb50948553 . _:vb50948553 . . "NCI:C84684"^^ . "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 EVC or EVC2 on chromosome 4p16.2."^^ . "SNOMEDCT_US_2021_09_01:62501005"^^ . "Ellis-Van Creveld syndrome"^^ .