| http://purl.uniprot.org/diseases/2744 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/2744 | http://www.w3.org/2000/01/rdf-schema#comment | "A form of metachromatic leukodystrophy biochemically characterized by tissue accumulation of cerebroside-3-sulfate, saposin B deficiency, and normal arylsulfatase A activity. Clinical manifestations include periventricular white matter abnormalities, demyelination, and peripheral neuropathy. Additional neurological features include dysarthria, ataxic gait, psychomotor regression, seizures, cognitive decline and spastic quadriparesis."xsd:string |
| http://purl.uniprot.org/diseases/2744 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/478 |
| http://purl.uniprot.org/diseases/2744 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D007966 |
| http://purl.uniprot.org/diseases/2744 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0268262 |
| http://purl.uniprot.org/diseases/2744 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/249900 |
| http://purl.uniprot.org/diseases/2744 | http://www.w3.org/2004/02/skos/core#prefLabel | "Metachromatic leukodystrophy due to saposin B deficiency"xsd:string |
| http://purl.uniprot.org/diseases/2744 | http://purl.uniprot.org/core/mnemonic | "MLDSAPB"xsd:string |
| http://purl.uniprot.org/diseases/2744 | http://www.w3.org/2004/02/skos/core#altLabel | "Activator deficiency"xsd:string |
| http://purl.uniprot.org/diseases/2744 | http://www.w3.org/2004/02/skos/core#altLabel | "Saposin B deficiency"xsd:string |
| http://purl.uniprot.org/diseases/2744 | http://www.w3.org/2004/02/skos/core#altLabel | "Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency"xsd:string |
| http://purl.uniprot.org/uniprot/#_124B0A7DDF54612C_up.disease_FC95AC890D1D0439 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/2744 |
| http://purl.uniprot.org/uniprot/P07602#SIP9D6B5D35599B1952 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/2744 |
| http://purl.uniprot.org/annotation/VAR_006943 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2744 |
| http://purl.uniprot.org/annotation/VAR_006944 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2744 |
| http://purl.uniprot.org/annotation/VAR_031823 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2744 |
| http://purl.uniprot.org/annotation/VAR_031899 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/2744 |