| http://purl.uniprot.org/diseases/40 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/40 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive disorder characterized by the accumulation in the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation and muscular wasting are also present."xsd:string |
| http://purl.uniprot.org/diseases/40 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/887 |
| http://purl.uniprot.org/diseases/40 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/103050 |
| http://purl.uniprot.org/diseases/40 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D011686 |
| http://purl.uniprot.org/diseases/40 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0268126 |
| http://purl.uniprot.org/diseases/40 | http://www.w3.org/2004/02/skos/core#prefLabel | "Adenylosuccinase deficiency"xsd:string |
| http://purl.uniprot.org/diseases/40 | http://purl.uniprot.org/core/mnemonic | "ADSLD"xsd:string |
| http://purl.uniprot.org/diseases/40 | http://www.w3.org/2004/02/skos/core#altLabel | "Adenylosuccinate lyase deficiency"xsd:string |
| http://purl.uniprot.org/diseases/40 | http://www.w3.org/2004/02/skos/core#altLabel | "ADSL deficiency"xsd:string |
| http://purl.uniprot.org/uniprot/P30566#SIPFA9279F738664A19 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/40 |
| http://purl.uniprot.org/annotation/VAR_000680 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/40 |
| http://purl.uniprot.org/annotation/VAR_007972 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/40 |
| http://purl.uniprot.org/annotation/VAR_007973 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/40 |
| http://purl.uniprot.org/annotation/VAR_007974 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/40 |
| http://purl.uniprot.org/annotation/VAR_007975 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/40 |
| http://purl.uniprot.org/annotation/VAR_007976 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/40 |
| http://purl.uniprot.org/annotation/VAR_007977 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/40 |
| http://purl.uniprot.org/annotation/VAR_007978 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/40 |
| http://purl.uniprot.org/annotation/VAR_016930 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/40 |
| http://purl.uniprot.org/annotation/VAR_016931 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/40 |
| http://purl.uniprot.org/annotation/VAR_016932 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/40 |
| http://purl.uniprot.org/annotation/VAR_017078 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/40 |
| http://purl.uniprot.org/annotation/VAR_017079 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/40 |
| http://purl.uniprot.org/annotation/VAR_017080 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/40 |