XFE progeroid syndrome
Information
- Disease name
- XFE progeroid syndrome
- Disease ID
- DOID:0060590
- Description
- "A progeroid syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/17183314]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0081332
- Cross Reference ID (Disease Ontology)
- GARD:10628
- Cross Reference ID (Disease Ontology)
- MESH:C567043
- Cross Reference ID (Disease Ontology)
- MIM:610965
- Exact Synonym (Disease Ontology)
- XFEPS
- Exact Synonym (Disease Ontology)
- XPF-ERCC1 progeroid syndrome