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General Information
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| Term |
epidermolysis bullosa simplex Dowling-Meara type |
ID (Ontology) |
DOID:0060735 (Human Disease) |
| Definition |
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. |
| Also Known As |
"EBS-gen sev" ; "EBSDM" ; "epidermolysis bullosa herpetiformis Dowling-Meara type" (for all, see Synonyms field below) |
| Comment |
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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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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 2 | | Human Disease Models (FBhh) | DOID | 1 |
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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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| Alleles | Genes | Human Disease Models |
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epidermolysis bullosa simplex Dowling-Meara type | 5 | 2 | 1 | model of | epidermolysis bullosa simplex Dowling-Meara type | 5 | -- | -- |
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Relationships