Junctional Epidermolysis Bullosa Non-Herlitz Type
Disease ID: disease_node_14237
Connections displayed (default: 10).
Loading graph...
| Dbxref | ICD10CM:Q81.8, MIM:226650, ORDO:79402, ORDO:89840 |
|---|---|
| Subclassof | DOID_3209, DOID_0050737 |
| Data Source | DOID |
| Synonyms | GABEB, JEB-nH gen, JEN-nH, generalized atrophic benign epidermolysis bullosa, generalized junctional epidermolysis bullosa, non-Herlitz type, junctional epidermolysis bullosa generalisata mitis, junctional epidermolysis bullosa, Disentis type |
| Doid Label | junctional epidermolysis bullosa non-Herlitz type |
| Doid Description | A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14237 |
| Doid Id | DOID_0060738 |
| Label | Junctional Epidermolysis Bullosa Non-Herlitz Type |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Epidermolysis Bullosa, Junctional(ID:disease_node_8570) (Disease)