Epidermolysis Bullosa Simplex Dowling-Meara Type
Disease ID: disease_node_14236
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q81.0, MIM:131760, ORDO:79396 |
|---|---|
| Subclassof | DOID_0050736, DOID_4644 |
| Data Source | DOID |
| Synonyms | EBS-gen sev, EBSDM, epidermolysis bullosa herpetiformis Dowling-Meara type, epidermolysis bullosa simplex, herpetiformis, generalized severe epidermolysis bullosa simplex |
| Doid Label | epidermolysis bullosa simplex Dowling-Meara type |
| Doid Description | An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_14236 |
| Doid Id | DOID_0060735 |
| Label | Epidermolysis Bullosa Simplex Dowling-Meara Type |
- Outgoing r'ship
SUBCLASS_OFto/from Epidermolysis Bullosa Simplex(ID:disease_node_8575) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)