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Metadata
ID	DOID:0080128
Name	mitochondrial DNA depletion syndrome 9
Definition	A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11. https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome, https://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency, https://www.ncbi.nlm.nih.gov/pubmed/28215579, https://www.ncbi.nlm.nih.gov/pubmed/29217198, https://www.omim.org/entry/245400
Xrefs	MESH:C580473 OMIM:245400 ORDO:17
Subsets	DO_rare_slim
Synonyms	fatal infantile lactic acidosis [EXACT]
Parent Relationships	is_a mitochondrial DNA depletion syndrome is_a autosomal recessive disease