Pretibial Dystrophic Epidermolysis Bullosa
Disease ID: disease_node_14230
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| Dbxref | GARD:2155, MIM:131850, ORDO:79410 |
|---|---|
| Subclassof | DOID_4959 |
| Data Source | DOID |
| Doid Label | pretibial dystrophic epidermolysis bullosa |
| Doid 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 domit and recessive dystrophic epidermolysis bullosa. |
| Disease Node Id | disease_node_14230 |
| Doid Id | DOID_0080988 |
| Label | Pretibial Dystrophic Epidermolysis Bullosa |
- Outgoing r'ship
SUBCLASS_OFto/from Epidermolysis Bullosa Dystrophica(ID:disease_node_8564) (Disease)