OBO ID: DOID:0060738 |
Term Name: | junctional epidermolysis bullosa non-Herlitz type | Search Ontology: | |
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Definition: | 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. (5) | ||
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Ontology: | Human Disease ( DOID:0060738 ) |
OTHER junctional epidermolysis bullosa non-Herlitz type PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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