pretibial dystrophic epidermolysis bullosa
Information
- Disease name
- pretibial dystrophic epidermolysis bullosa
- Disease ID
- DOID:0080988
- Description
- "An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa." [url:https\://pubmed.ncbi.nlm.nih.gov/7738360/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:4959
- Cross Reference ID (Disease Ontology)
- GARD:2155
- Cross Reference ID (Disease Ontology)
- MIM:131850
- Cross Reference ID (Disease Ontology)
- ORDO:79410
- OrphaNumber from OrphaNet (Orphanet)
- 79410