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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/
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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
_:vb50946267
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dc:type
n6:ECO_0007645
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n6:IAO_0000115
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n6:DOID_0112196
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A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in DDR2 on chromosome 1q23.3.
obo:hasDbXref
url:https://pubmed.ncbi.nlm.nih.gov/31406622/ url:https://pubmed.ncbi.nlm.nih.gov/8434618/