5D4E3F40A65C3E2F735BD42E0152E32AF104F763AED53007B78970FFD4107B11A8015624E3EC7227CECBAEB34E222E24

Defects in SUCLG1 are the cause of mitochondrial DNA depletion syndrome type 9 (MTDPS9) [MIM:245400]. A severe disorder due to mitochondrial dysfunction. It is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid.

Source:http://purl.uniprot.org/SHA-384/5D4E3F40A65C3E2F735BD42E0152E32AF104F763AED53007B78970FFD4107B11A8015624E3EC7227CECBAEB34E222E24

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rdf:type	uniprot:Disease_Annotation
rdfs:comment	Defects in SUCLG1 are the cause of mitochondrial DNA depletion syndrome type 9 (MTDPS9) [MIM:245400]. A severe disorder due to mitochondrial dysfunction. It is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid.