_:vb50945776 <http://www.w3.org/2007/05/powder-s#describedby> <https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl> . _:vb50945776 <http://www.w3.org/2002/07/owl#annotatedSource> <http://purl.obolibrary.org/obo/DOID_0111938> . _:vb50945776 <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://www.w3.org/2002/07/owl#Axiom> . _:vb50945776 <http://www.w3.org/2002/07/owl#annotatedTarget> "A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in CTPS1 on chromosome 1p34.2."^^<http://www.w3.org/2001/XMLSchema#string> . _:vb50945776 <http://www.geneontology.org/formats/oboInOwl#hasDbXref> "url:https://pubmed.ncbi.nlm.nih.gov/24870241/"^^<http://www.w3.org/2001/XMLSchema#string> . _:vb50945776 <http://www.w3.org/2002/07/owl#annotatedProperty> <http://purl.obolibrary.org/obo/IAO_0000115> . _:vb50945776 <http://purl.org/dc/elements/1.1/type> <http://purl.obolibrary.org/obo/ECO_0007645> .