OBO ID: DOID:12714
Term Name: Ellis-Van Creveld syndrome Search Ontology:
Synonyms:
  • Chondroectodermal dysplasia
  • mesoectodermal dysplasia
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 EVC or EVC2 on chromosome 4p16.2. (2)
References:
  • GARD:1301
  • ICD10CM:Q77.6
  • ICD9CM:756.55
  • MESH:D004613
  • NCI:C84684
  • OMIM:225500
  • SNOMEDCT_US_2022_03_01:62501005
  • UMLS_CUI:C0013903
Ontology: Human Disease   (DOID:12714)
OTHER Ellis-Van Creveld syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EVC Ellis-van Creveld syndrome 225500
EVC2 Ellis-van Creveld syndrome 225500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None