ZFIN Human Disease: Ellis-Van Creveld syndrome

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 the EVC or EVC2 gene on chromosome 4p16.2. (2)
References:	GARD:1301 ICD10CM:Q77.6 ICD9CM:756.55 MESH:D004613 NCI:C84684 OMIM:225500 SNOMEDCT_US_2023_03_01:62501005 UMLS_CUI:C0013903
Ontology:	Human Disease ( DOID:12714 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER Ellis-Van Creveld syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
EVC		Ellis-van Creveld syndrome
EVC2		Ellis-van Creveld syndrome

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None