cerebrooculofacioskeletal syndrome 2
Information
- Disease name
- cerebrooculofacioskeletal syndrome 2
- Disease ID
- DOID:0080912
- Description
- "A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13." [url:https\://pubmed.ncbi.nlm.nih.gov/11443545/]
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)
- MESH:C565185
- Cross Reference ID (Disease Ontology)
- MIM:610756