| http://purl.uniprot.org/diseases/3913 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive disorder of mitochondrial dysfunction characterized by onset of severe hypertrophic cardiomyopathy in the first year of life. Other features include hypotonia, poor growth, lactic acidosis, and failure to thrive. The disorder may be fatal in early childhood."xsd:string |