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General Information
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| Term |
junctional epidermolysis bullosa Herlitz type |
ID (Ontology) |
DOID:0060737 (Human Disease) |
| Definition |
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. |
| Also Known As |
"epidermolysis bullosa letalis" ; "Herlitz type epidermolysis bullosa junctionalis" ; "Herlitz-Pearson-type epidermolysis bullosa" (for all, see Synonyms field below) |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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junctional epidermolysis bullosa Herlitz type | 1 | for disease ribbon | junctional epidermolysis bullosa Herlitz type | 1 | model of | junctional epidermolysis bullosa Herlitz type | 1 |
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Relationships