cerebrooculofacioskeletal syndrome 1
Information
- Disease name
- cerebrooculofacioskeletal syndrome 1
- Disease ID
- DOID:0080911
- Description
- "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11." [url:https\://pubmed.ncbi.nlm.nih.gov/20456449/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0080910
- Cross Reference ID (Disease Ontology)
- MIM:214150