_:vb50941938	<http://www.w3.org/1999/02/22-rdf-syntax-ns#type>	<http://www.w3.org/2002/07/owl#Axiom> .
_:vb50941938	<http://www.w3.org/2002/07/owl#annotatedProperty>	<http://purl.obolibrary.org/obo/IAO_0000115> .
_:vb50941938	<http://www.w3.org/2002/07/owl#annotatedTarget>	"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."^^<http://www.w3.org/2001/XMLSchema#string> .
_:vb50941938	<http://www.geneontology.org/formats/oboInOwl#hasDbXref>	"url:https://pubmed.ncbi.nlm.nih.gov/31250547/"^^<http://www.w3.org/2001/XMLSchema#string> .
_:vb50941938	<http://www.w3.org/2007/05/powder-s#describedby>	<https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl> .
_:vb50941938	<http://www.w3.org/2002/07/owl#annotatedSource>	<http://purl.obolibrary.org/obo/DOID_0080963> .