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Disease	Synonyms	Description
mitochondrial DNA depletion syndrome 16	mitochondrial DNA depletion syndrome 16 (hepatic t.. [+] mitochondrial DNA depletion syndrome 16 (hepatic type) [-]	A mitochondrial DNA depletion syndrome characteriz..[+] A mitochondrial DNA depletion syndrome characterized by infantile onset of fulminant hepatic liver failure that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.3. [-]
mitochondrial DNA depletion syndrome 16B	mitochondrial DNA depletion syndrome 16B (neurooph.. [+] mitochondrial DNA depletion syndrome 16B (neuroophthalmic type) [-]	A mitochondrial DNA depletion syndrome characteriz..[+] A mitochondrial DNA depletion syndrome characterized by childhood onset of progressive neuroophthalmic manifestation including optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23. [-]
mitochondrial DNA depletion syndrome 17		A mitochondrial DNA depletion syndrome characteriz..[+] A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome. [-]
mitochondrial DNA depletion syndrome 18		A mitochondrial DNA depletion syndrome characteriz..[+] A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene on chromosome 14q11.3. [-]
mitochondrial DNA depletion syndrome 19		A mitochondrial DNA depletion syndrome that has_ma..[+] A mitochondrial DNA depletion syndrome that has_material_basis_in compound heterozygous mutation in the SLC25A10 gene on chromosome 17q25.3. [-]
mitochondrial DNA depletion syndrome 20	mitochondrial DNA depletion syndrome 20 (MNGIE typ.. [+] mitochondrial DNA depletion syndrome 20 (MNGIE type) [-]	A mitochondrial DNA depletion syndrome characteriz..[+] A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline that has_material_basis_in compound heterozygous mutation in the LIG3 gene on chromosome 17q12. [-]
mitochondrial complex V (ATP synthase) deficiency nuclear type 4A	MC5DN4A	A mitochondrial complex V (ATP synthase) deficienc..[+] A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal dominant inheritance. [-]
mitochondrial complex V (ATP synthase) deficiency nuclear type 4B	MC5DN4B	A mitochondrial complex V (ATP synthase) deficienc..[+] A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance. [-]
mitochondrial complex V (ATP synthase) deficiency nuclear type 5	MC5DN5	A mitochondrial complex V (ATP synthase) deficienc..[+] A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3. [-]
mitochondrial complex V (ATP synthase) deficiency nuclear type 7	MC5DN7	A mitochondrial complex V (ATP synthase) deficienc..[+] A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11. [-]
mitochondrial complex IV deficiency nuclear type 23	MC4DN23	A cytochrome-c oxidase deficiency disease characte..[+] A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22. [-]
mitochondrial complex IV deficiency nuclear type 1	MC4DN1	A COX deficiency, benign infantile mitochondrial m..[+] A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2. [-]
mitochondrial complex IV deficiency nuclear type 3	MC4DN3	A COX deficiency, benign infantile mitochondrial m..[+] A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX10 gene on chromosome 17p12. [-]
mitochondrial complex IV deficiency nuclear type 4	MC4DN4	A COX deficiency, benign infantile mitochondrial m..[+] A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SCO1 gene on chromosome 17p13.1. [-]
mitochondrial complex IV deficiency nuclear type 7	MC4DN7	A COX deficiency, benign infantile mitochondrial m..[+] A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX6B1 gene on chromosome 19q13.12. [-]
mitochondrial complex IV deficiency nuclear type 8	MC4DN8	A COX deficiency, benign infantile mitochondrial m..[+] A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability that has_material_basis_in homozygous mutation in the TACO1 gene on chromosome 17q23.3. [-]
mitochondrial complex IV deficiency nuclear type 10	MC4DN10	A COX deficiency, benign infantile mitochondrial m..[+] A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX14 gene on chromosome 12q13.12. [-]
mitochondrial complex IV deficiency nuclear type 11	MC4DN11	A COX deficiency, benign infantile mitochondrial m..[+] A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX20 gene on chromosome 1q44. [-]
mitochondrial complex IV deficiency nuclear type 12	MC4DN12	A COX deficiency, benign infantile mitochondrial m..[+] A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2. [-]
mitochondrial complex IV deficiency nuclear type 14	MC4DN14	A COX deficiency, benign infantile mitochondrial m..[+] A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2. [-]

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