Ellis-Van Creveld syndrome
Information
- Disease name
- Ellis-Van Creveld syndrome
- Disease ID
- DOID:12714
- 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." [url:https\://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/10700184]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:1301
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q77.6
- Cross Reference ID (Disease Ontology)
- ICD9CM:756.55
- Cross Reference ID (Disease Ontology)
- MESH:D004613
- Cross Reference ID (Disease Ontology)
- MIM:225500
- Cross Reference ID (Disease Ontology)
- NCI:C84684
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:62501005
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0013903
- Exact Synonym (Disease Ontology)
- Chondroectodermal dysplasia
- Exact Synonym (Disease Ontology)
- mesoectodermal dysplasia
- MedGen concept unique identifier (MedGen Concept name)
- CN239258
- MedGen unique identifier (MedGen Concept name)
- 893448
- MeSH unique ID (MeSH (Medical Subject Headings))
- D004613