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Namespace Prefixes

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Statements

Subject Item
n2:DOID_0080988
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_4959
rdfs:label
pretibial dystrophic epidermolysis bullosa
wdrs:describedby
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obo:id
DOID:0080988
obo:hasDbXref
GARD:2155 ORDO:79410 OMIM:131850
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disease_ontology
n2:IAO_0000115
An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa.