Search Ontology:
Human Disease

Ellis-Van Creveld syndrome

Term ID
DOID:12714
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 the EVC or EVC2 gene on chromosome 4p16.2. (2)
References
  • GARD:1301
  • ICD10CM:Q77.6
  • ICD9CM:756.55
  • MESH:D004613
  • MIM:225500
  • NCI:C84684
  • SNOMEDCT_US_2023_03_01:62501005
  • UMLS_CUI:C0013903
Ontology
Human Disease   ( DOID:12714 )
Relationships
is a type of
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Genes Involved
Zebrafish Models