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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

_:vb50941938

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n3:IAO_0000115

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A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13.

obo:hasDbXref

url:https://pubmed.ncbi.nlm.nih.gov/31250547/