| http://purl.uniprot.org/diseases/4 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/4 | http://www.w3.org/2000/01/rdf-schema#comment | "An inborn error of leucine metabolism. It leads to an autosomal recessive syndrome with variable clinical phenotype, ranging from delayed speech development to severe psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. MGCA1 can be distinguished from other forms of MGCA by the pattern of metabolite excretion: 3-methylglutaconic acid levels are higher than those detected in other forms, whereas methylglutaric acid levels are usually only slightly elevated and there is a high level of 3-hydroxyisovaleric acid excretion (not present in other MGCA forms)."xsd:string |
| http://purl.uniprot.org/diseases/4 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/250950 |
| http://purl.uniprot.org/diseases/4 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D000592 |
| http://purl.uniprot.org/diseases/4 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0342727 |
| http://purl.uniprot.org/diseases/4 | http://www.w3.org/2004/02/skos/core#prefLabel | "3-methylglutaconic aciduria 1"xsd:string |
| http://purl.uniprot.org/diseases/4 | http://purl.uniprot.org/core/mnemonic | "MGCA1"xsd:string |
| http://purl.uniprot.org/diseases/4 | http://www.w3.org/2004/02/skos/core#altLabel | "MGA1"xsd:string |
| http://purl.uniprot.org/diseases/4 | http://www.w3.org/2004/02/skos/core#altLabel | "3-alpha-methylglutaconic aciduria type 1"xsd:string |
| http://purl.uniprot.org/diseases/4 | http://www.w3.org/2004/02/skos/core#altLabel | "3-alpha-methylglutaconyl-CoA hydratase deficiency"xsd:string |
| http://purl.uniprot.org/diseases/4 | http://www.w3.org/2004/02/skos/core#altLabel | "3-methylglutaconyl-CoA hydratase deficiency"xsd:string |
| http://purl.uniprot.org/diseases/4 | http://www.w3.org/2004/02/skos/core#altLabel | "3MG-CoA hydratase deficiency"xsd:string |
| http://purl.uniprot.org/diseases/4 | http://www.w3.org/2004/02/skos/core#altLabel | "MGA type I"xsd:string |
| http://purl.uniprot.org/uniprot/Q13825#SIP6408ED31F9CE580E | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/4 |
| http://purl.uniprot.org/annotation/VAR_016911 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4 |
| http://purl.uniprot.org/uniprot/#_0FD67FF1EC214B6E_up.disease_4A4E76864A0D7CA3 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/4 |