_:vb50938927	<http://www.w3.org/2007/05/powder-s#describedby>	<https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl> .
_:vb50938927	<http://www.w3.org/2002/07/owl#annotatedProperty>	<http://purl.obolibrary.org/obo/IAO_0000115> .
_:vb50938927	<http://www.w3.org/2002/07/owl#annotatedTarget>	"A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules,  unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene."^^<http://www.w3.org/2001/XMLSchema#string> .
_:vb50938927	<http://www.w3.org/1999/02/22-rdf-syntax-ns#type>	<http://www.w3.org/2002/07/owl#Axiom> .
_:vb50938927	<http://www.geneontology.org/formats/oboInOwl#hasDbXref>	"url:https://www.ncbi.nlm.nih.gov/pubmed/10653321"^^<http://www.w3.org/2001/XMLSchema#string> .
_:vb50938927	<http://www.geneontology.org/formats/oboInOwl#hasDbXref>	"url:http://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia"^^<http://www.w3.org/2001/XMLSchema#string> .
_:vb50938927	<http://www.geneontology.org/formats/oboInOwl#hasDbXref>	"url:http://www.ncbi.nlm.nih.gov/books/NBK1376/"^^<http://www.w3.org/2001/XMLSchema#string> .
_:vb50938927	<http://purl.org/dc/elements/1.1/type>	<http://purl.obolibrary.org/obo/ECO_0007646> .
_:vb50938927	<http://www.w3.org/2002/07/owl#annotatedSource>	<http://purl.obolibrary.org/obo/DOID_0060490> .
_:vb50938927	<http://purl.org/dc/elements/1.1/type>	<http://purl.obolibrary.org/obo/ECO_0007645> .
_:vb50938927	<http://purl.org/dc/elements/1.1/type>	<http://purl.obolibrary.org/obo/ECO_0007637> .