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http://purl.uniprot.org/diseases/1921http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Disease
http://purl.uniprot.org/diseases/1921http://www.w3.org/2000/01/rdf-schema#comment"A lysosomal storage disease characterized by accumulation of unbranched oligosaccharide chains. This accumulation is expressed histologically as cytoplasmic vacuolation predominantly in the CNS and parenchymatous organs. Depending on the clinical findings at the age of onset, a severe infantile (type I) and a mild juvenile (type II) form of alpha-mannosidosis are recognized. There is considerable variation in the clinical expression with intellectual disability, recurrent infections, impaired hearing and Hurler-like skeletal changes being the most consistent abnormalities."xsd:string
http://purl.uniprot.org/diseases/1921http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/mim/248500
http://purl.uniprot.org/diseases/1921http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://id.nlm.nih.gov/mesh/D008363
http://purl.uniprot.org/diseases/1921http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/medgen/C0024748
http://purl.uniprot.org/diseases/1921http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/medgen/C1855396
http://purl.uniprot.org/diseases/1921http://www.w3.org/2004/02/skos/core#prefLabel"Mannosidosis, alpha B, lysosomal"xsd:string
http://purl.uniprot.org/diseases/1921http://purl.uniprot.org/core/mnemonic"MANSA"xsd:string
http://purl.uniprot.org/diseases/1921http://www.w3.org/2004/02/skos/core#altLabel"Alpha-mannosidase B deficiency"xsd:string
http://purl.uniprot.org/diseases/1921http://www.w3.org/2004/02/skos/core#altLabel"Alpha-mannosidosis"xsd:string
http://purl.uniprot.org/diseases/1921http://www.w3.org/2004/02/skos/core#altLabel"Alpha-mannosidosis types I and II"xsd:string
http://purl.uniprot.org/diseases/1921http://www.w3.org/2004/02/skos/core#altLabel"Lysosomal alpha-D-mannosidase deficiency"xsd:string
http://purl.uniprot.org/uniprot/O00754#SIP4E709BD0707CC8C5http://purl.uniprot.org/core/diseasehttp://purl.uniprot.org/diseases/1921
http://purl.uniprot.org/annotation/VAR_003338http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1921
http://purl.uniprot.org/annotation/VAR_003342http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1921
http://purl.uniprot.org/annotation/VAR_003343http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1921
http://purl.uniprot.org/annotation/VAR_003344http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1921
http://purl.uniprot.org/annotation/VAR_003346http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1921
http://purl.uniprot.org/annotation/VAR_003347http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1921
http://purl.uniprot.org/annotation/VAR_003348http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1921
http://purl.uniprot.org/annotation/VAR_026412http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1921
http://purl.uniprot.org/annotation/VAR_026413http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1921
http://purl.uniprot.org/annotation/VAR_026414http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1921
http://purl.uniprot.org/annotation/VAR_068034http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1921
http://purl.uniprot.org/annotation/VAR_068035http://www.w3.org/2004/02/skos/core#relatedhttp://purl.uniprot.org/diseases/1921