GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Ellis-van Creveld Syndrome  
Disease Aliases (18)

Chondroectodermal dysplasia

Chondroectodermal dysplasias

Dysplasia, chondroectodermal

Dysplasia, ellis-van creveld

Dysplasia, mesoectodermal

Evc

Evc - ellis-van creveld syndrome

Evc-related ellis-van creveld syndrome

Evc2-related ellis-van creveld syndrome

Ellis van creveld dysplasia

Ellis van creveld syndrome

Ellis-van creveld syndrome; evc

Ellis-van creveld dysplasia

Ellis-van creveld syndrome

Mesoectodermal dysplasia

Mesodermic dysplasia

Mesoectodermal dysplasias

Syndrome, ellis-van creveld

Associated Genes (4)
 

NCBI-RefSeq:  GLI1   (GLI family zinc finger 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  EVC2   (EvC ciliary complex subunit 2)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  DYNC2LI1   (Dynein cytoplasmic 2 light intermediate chain 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  EVC   (EvC ciliary complex subunit 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Ellis-van Creveld syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations