About: nodeID://b50941977

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An Entity of Type : owl:Axiom, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

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type	Axiom
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
annotatedProperty	http://purl.obolibrary.org/obo/IAO_0000115
annotatedSource	pretibial dystrophic epidermolysis bullosa
annotatedTarget	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.
database_cross_reference	url:https://pubmed.ncbi.nlm.nih.gov/7738360/
is topic of	Human Disease Ontology

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