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Namespace Prefixes

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owl	http://www.w3.org/2002/07/owl#
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Statements

Subject Item

_:vb50941406

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An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21.

obo:hasDbXref

url:https://pubmed.ncbi.nlm.nih.gov/8781110 url:https://www.ncbi.nlm.nih.gov/pubmed/22464254