Ellis-Van Creveld Syndrome
Disease ID: disease_node_2761
Connections displayed (default: 10).
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| Dbxref | GARD:1301, ICD10CM:Q77.6, ICD9CM:756.55, MESH:D004613, MIM:225500, NCI:C84684, SNOMEDCT_US_2023_03_01:62501005, UMLS_CUI:C0013903 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | Chondroectodermal dysplasia, mesoectodermal dysplasia |
| Mesh Id | D004613 |
| Mesh Label | Ellis-Van Creveld Syndrome |
| Mesh Subclassof | D010009, D004476 |
| Doid Label | Ellis-Van Creveld syndrome |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_2761 |
| Doid Id | DOID_12714 |
| Label | Ellis-Van Creveld Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)