Rare Disease Library

Mitochondrial DNA depletion syndrome, myopathic form

mtDNA depletion syndrome, myopathic form

Mitochondrial DNA maintenance syndrome

mtDNA maintenance syndrome

Mitochondrial DNA-associated Leigh syndrome

mtDNA-associated Leigh syndrome · MILS

Mitochondrial DNA-related cardiomyopathy and hearing loss

mtDNA-related cardiomyopathy and deafness · Maternally-inherited cardiomyopathy and deafness

Mitochondrial DNA-related dystonia

Maternally-inherited mitochondrial dystonia · mtDNA-related dystonia

Mitochondrial DNA-related mitochondrial myopathy

mtDNA-related mitochondrial myopathy · Maternally-inherited mitochondrial myopathy

Mitochondrial DNA-related progressive external ophthalmoplegia

Maternally-inherited CPEO · Maternally-inherited chronic progressive external ophthalmoplegia

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

COXPD10 · Combined oxidative phosphorylation defect type 10

Mitochondrial membrane protein-associated neurodegeneration

MPAN · NBIA due to C19orf12 mutation

Mitochondrial membrane transport disorder

Mitochondrial myopathy

Mitochondrial myopathy and sideroblastic anemia

MLASA · Myopathy, lactic acidosis and sideroblastic anemia

Mitochondrial myopathy with reversible cytochrome C oxidase deficiency

Benign COX deficiency · Infantile reversible cytochrome C oxidase deficiency myopathy

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

Mitochondrial myopathy-lactic acidosis-deafness syndrome

Mitochondrial myopathy-lactic acidosis-hearing loss syndrome

Mitochondrial neurogastrointestinal encephalomyopathy

MNGIE

Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure

Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure · Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure

Mitochondrial oxidative phosphorylation disorder

OXPHOS disease

Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA

Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA · OXPHOS disease due to a large-scale single deletion of mitochondrial DNA

Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA

Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA · OXPHOS disease due to a point mutation of mitochondrial DNA

Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies

Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies · OXPHOS disease due to mitochondrial DNA anomalies

Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies

Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies · OXPHOS disease due to nDNA anomalies

Mitochondrial oxidative phosphorylation disorder with no known mechanism

OXPHOS disease with no known mechanism

Mitochondrial protein import disorder

Mitochondrial pyruvate carrier deficiency

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Crotonase deficiency · ECHS1D

Mitochondrial substrate carrier disorder

Mitochondrial trifunctional protein deficiency

TFP deficiency · TFPD

Mitral atresia

Mitral valve agenesis

Mixed autoinflammatory and autoimmune syndrome

Mixed connective tissue disease

MCTD · Sharp syndrome

Mixed cryoglobulinemia type II

MC type II

Mixed cryoglobulinemia type III

MC type III

Mixed cystic lymphatic malformation

Mixed cystic lymphangioma

Mixed dermis disorder

Mixed functioning pituitary adenoma

Mixed secreting pituitary adenoma

Mixed germ cell tumor

Mixed germ cell tumor of central nervous system

Mixed germ cell tumor of CNS

Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas

MiNEN of pancreas · Pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm

Mixed neuronal-glial tumor

Mixed phenotype acute leukemia

MPAL

Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)

MPAL with t(9;22)(q34.1;q11.2); BCR-ABL1

Mixed phenotype acute leukemia with t(v;11q23.3)

MPAL with t(v;11q23.3); KMT2A rearranged · MPAL with t(v;11q23.3); MLL rearranged

Mixed sclerosing bone dystrophy with extra-skeletal manifestations

Mixed-type autoimmune hemolytic anemia

Mixed AIHA

Miyoshi myopathy

MME-related autosomal dominant Charcot Marie Tooth disease type 2

MME-related autosomal dominant CMT2 · MME-related autosomal dominant hereditary motor and sensory neuropathy type 2