About: Ellis-Van Creveld Syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Ellis-Van Creveld Syndrome
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Ellis-Van Creveld Syndrome
UMLS_CUI
  • C0013903
Contributing_Source
  • NICHD
FULL_SYN
  • Ellis-Van Creveld SyndromePTNCI
  • Chondroectodermal DysplasiaSYNCI
  • Chondroectodermal DysplasiaPTNICHD
DEFINITION
  • A rare autosomal recessive syndrome caused by mutations in the EVC gene. It is characterized by dwarfism, small chest, ectodermal dysplasia, and postaxial polydactyly. There is an increased frequency of congenital heart malformations.NCI
code
  • C84684
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