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

Attributes	Values
type	Axiom
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
Type	http://purl.obolibrary.org/obo/ECO_0007645
annotatedProperty	http://purl.obolibrary.org/obo/IAO_0000115
annotatedSource	junctional epidermolysis bullosa non-Herlitz type
annotatedTarget	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.
database_cross_reference	url:https://www.ncbi.nlm.nih.gov/pubmed/10792571 url:https://www.ncbi.nlm.nih.gov/pubmed/11810295 url:https://www.ncbi.nlm.nih.gov/pubmed/18374450 url:https://www.ncbi.nlm.nih.gov/pubmed/7550320 url:https://www.ncbi.nlm.nih.gov/pubmed/7706760
is topic of	Human Disease Ontology

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