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Namespace Prefixes

PrefixIRI
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wdrshttp://www.w3.org/2007/05/powder-s#
dchttp://purl.org/dc/elements/1.1/
obohttp://www.geneontology.org/formats/oboInOwl#
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
_:vb50945127
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dc:type
n7:ECO_0007645
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n7:IAO_0000115
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A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in FBN2 on chromosome 5q23.3.
obo:hasDbXref
url:https://www.ncbi.nlm.nih.gov/pubmed/9106527 url:https://www.ncbi.nlm.nih.gov/pubmed/4552107 url:https://www.ncbi.nlm.nih.gov/pubmed/9714438