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Namespace Prefixes

PrefixIRI
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owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
_:vb50939281
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n3:ECO_0007645
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n3:IAO_0000115
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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.
obo:hasDbXref
url:https://www.ncbi.nlm.nih.gov/pubmed/8012393 url:https://www.ncbi.nlm.nih.gov/pubmed/8586427 url:https://www.ncbi.nlm.nih.gov/pubmed/18374450