_:vb50943334	<http://www.w3.org/2007/05/powder-s#describedby>	<https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl> .
_:vb50943334	<http://www.w3.org/2002/07/owl#annotatedTarget>	"A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36."^^<http://www.w3.org/2001/XMLSchema#string> .
_:vb50943334	<http://www.geneontology.org/formats/oboInOwl#hasDbXref>	"url:https://www.ncbi.nlm.nih.gov/pubmed/11528383"^^<http://www.w3.org/2001/XMLSchema#string> .
_:vb50943334	<http://www.w3.org/2002/07/owl#annotatedProperty>	<http://purl.obolibrary.org/obo/IAO_0000115> .
_:vb50943334	<http://purl.org/dc/elements/1.1/type>	<http://purl.obolibrary.org/obo/ECO_0007645> .
_:vb50943334	<http://www.w3.org/2002/07/owl#annotatedSource>	<http://purl.obolibrary.org/obo/DOID_0110633> .
_:vb50943334	<http://www.geneontology.org/formats/oboInOwl#hasDbXref>	"url:https://www.ncbi.nlm.nih.gov/pubmed/12192640"^^<http://www.w3.org/2001/XMLSchema#string> .
_:vb50943334	<http://www.w3.org/1999/02/22-rdf-syntax-ns#type>	<http://www.w3.org/2002/07/owl#Axiom> .
_:vb50943334	<http://www.geneontology.org/formats/oboInOwl#hasDbXref>	"url:https://www.ncbi.nlm.nih.gov/pubmed/15122708"^^<http://www.w3.org/2001/XMLSchema#string> .