Autosomal Domit Dystrophic Epidermolysis Bullosa
Disease ID: disease_node_14231
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| Dbxref | GARD:2139, MIM:131750 |
|---|---|
| Subclassof | DOID_4959 |
| Data Source | DOID |
| Doid Label | autosomal domit dystrophic epidermolysis bullosa |
| Doid Description | An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal domit inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. |
| Disease Node Id | disease_node_14231 |
| Doid Id | DOID_0080224 |
| Label | Autosomal Domit Dystrophic Epidermolysis Bullosa |
- Outgoing r'ship
SUBCLASS_OFto/from Epidermolysis Bullosa Dystrophica(ID:disease_node_8564) (Disease)