Junctional Epidermolysis Bullosa Herlitz Type
Disease ID: disease_node_14238
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| Dbxref | ICD10CM:Q81.1, MIM:226700, ORDO:79404 |
|---|---|
| Subclassof | DOID_0050737, DOID_3209 |
| Data Source | DOID |
| Synonyms | Herlitz type epidermolysis bullosa junctionalis, Herlitz-Pearson-type epidermolysis bullosa, JEB-H, JEB-Herlitz type, epidermolysis bullosa letalis, junctional epidermolysis bullosa generalisata gravis, junctional epidermolysis bullosa, Herlitz-Pearson type |
| Doid Label | junctional epidermolysis bullosa Herlitz type |
| Doid Description | A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14238 |
| Doid Id | DOID_0060737 |
| Label | Junctional Epidermolysis Bullosa 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)