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Metadata
ID DOID:12714
Name Ellis-Van Creveld syndrome
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.
https://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/10700184
Xrefs

GARD:1301

ICD10CM:Q77.6

ICD9CM:756.55

MESH:D004613

NCI:C84684

OMIM:225500

SNOMEDCT_US_2023_03_01:62501005

UMLS_CUI:C0013903

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Chondroectodermal dysplasia [EXACT]

mesoectodermal dysplasia [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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