Preferred Name |
Ellis-Van Creveld syndrome |
|
Synonyms |
Chondroectodermal dysplasia |
|
Definitions |
OMIM mapping confirmed by DO. [SN]. |
|
ID |
http://purl.obolibrary.org/obo/DOID_12714 |
|
comment |
OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
ICD10CM:Q77.6 UMLS_CUI:C0013903 SNOMEDCT_US_2023_03_01:62501005 MESH:D004613 ICD9CM:756.55 GARD:1301 MIM:225500 NCI:C84684 |
|
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. |
|
has exact synonym |
Chondroectodermal dysplasia mesoectodermal dysplasia |
|
has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:12714 |
|
in_subset | ||
label |
Ellis-Van Creveld syndrome |
|
notation |
DOID:12714 |
|
prefLabel |
Ellis-Van Creveld syndrome |
|
subClassOf |
Create mapping