|
| General Information | |||
|---|---|---|---|
| Term | Ellis-Van Creveld syndrome | ID (Ontology) | DOID:12714 (Human Disease) |
| 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. | ||
| Also Known As | "Chondroectodermal dysplasia" ; "mesoectodermal dysplasia" | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
No relevant statements available
|
|||
|
||||||
autosomal genetic disease |__autosomal recessive disease__ disease | |__syndrome_____________________| Ellis-Van Creveld syndrome |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
autosomal recessive disease syndrome |
||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
GARD:1301 ICD10CM:Q77.6 ICD9CM:756.55 MESH:D004613 MIM:225500 NCI:C84684 SNOMEDCT_US_2023_03_01:62501005 UMLS_CUI:C0013903 |
|||