| http://purl.uniprot.org/diseases/4365 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/4365 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive inborn error of metabolism with a highly variable phenotype. Primary disease symptoms are increased levels of 3-methylglutaconic acid, neurologic deterioration and neutropenia. Other common features include progressive encephalopathy, movement abnormalities, delayed psychomotor development,impaired intellectual development, cataracts, seizures, and recurrent infections."xsd:string |
| http://purl.uniprot.org/diseases/4365 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/887 |
| http://purl.uniprot.org/diseases/4365 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/898 |
| http://purl.uniprot.org/diseases/4365 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/616271 |
| http://purl.uniprot.org/diseases/4365 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D008661 |
| http://purl.uniprot.org/diseases/4365 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN228597 |
| http://purl.uniprot.org/diseases/4365 | http://www.w3.org/2004/02/skos/core#prefLabel | "3-methylglutaconic aciduria 7B"xsd:string |
| http://purl.uniprot.org/diseases/4365 | http://purl.uniprot.org/core/mnemonic | "MGCA7B"xsd:string |
| http://purl.uniprot.org/diseases/4365 | http://www.w3.org/2004/02/skos/core#altLabel | "3-methylglutaconic aciduria, type VII"xsd:string |
| http://purl.uniprot.org/diseases/4365 | http://www.w3.org/2004/02/skos/core#altLabel | "MEGCANN"xsd:string |
| http://purl.uniprot.org/diseases/4365 | http://www.w3.org/2004/02/skos/core#altLabel | "MGCA7"xsd:string |
| http://purl.uniprot.org/diseases/4365 | http://www.w3.org/2004/02/skos/core#altLabel | "3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia"xsd:string |
| http://purl.uniprot.org/diseases/4365 | http://www.w3.org/2004/02/skos/core#altLabel | "3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia"xsd:string |
| http://purl.uniprot.org/uniprot/Q9H078#SIPEF5930D8E59853DA | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/4365 |
| http://purl.uniprot.org/annotation/VAR_073397 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4365 |
| http://purl.uniprot.org/annotation/VAR_073398 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4365 |
| http://purl.uniprot.org/annotation/VAR_073399 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4365 |
| http://purl.uniprot.org/annotation/VAR_073400 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4365 |
| http://purl.uniprot.org/annotation/VAR_073401 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4365 |
| http://purl.uniprot.org/annotation/VAR_073402 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4365 |
| http://purl.uniprot.org/annotation/VAR_073403 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4365 |
| http://purl.uniprot.org/annotation/VAR_073404 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4365 |
| http://purl.uniprot.org/annotation/VAR_073405 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4365 |
| http://purl.uniprot.org/annotation/VAR_073406 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4365 |