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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

ORPHA:314637Disease
Unknown

Mitochondrial membrane protein-associated neurodegeneration

ORPHA:289560Disease
Autosomal recessive

Mitochondrial myopathy and sideroblastic anemia

ORPHA:2598Disease
Autosomal recessive

Mitochondrial myopathy with reversible cytochrome C oxidase deficiency

ORPHA:254864Disease
Mitochondrial inheritance

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

ORPHA:502423Disease
Autosomal dominant

Mitochondrial myopathy-lactic acidosis-deafness syndrome

ORPHA:2597Disease
No data available

Mitochondrial neurogastrointestinal encephalomyopathy

ORPHA:298Disease
Autosomal recessive

Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies

ORPHA:2443Cat.
Autosomal recessive

Mitochondrial pyruvate carrier deficiency

ORPHA:447784Disease
Autosomal recessive

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

ORPHA:653880Disease
Autosomal recessive

Mitochondrial trifunctional protein deficiency

ORPHA:746Disease
Autosomal recessive

Mixed connective tissue disease

ORPHA:809Disease
Multigenic/multifactorial

Mixed cryoglobulinemia type II

ORPHA:93554Etio. sub.

Mixed cryoglobulinemia type III

ORPHA:93555Etio. sub.

Mixed cystic lymphatic malformation

ORPHA:458792Malform.
Not applicable

Mixed germ cell tumor

ORPHA:180234Disease
Not applicable

Mixed phenotype acute leukemia

ORPHA:530995Disease

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

ORPHA:589534Etio. sub.
Not applicable

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

ORPHA:589595Etio. sub.
Not applicable

Mixed sclerosing bone dystrophy with extra-skeletal manifestations

ORPHA:324364Disease

Mixed-type autoimmune hemolytic anemia

ORPHA:90036Disease
Multigenic/multifactorial

Miyoshi myopathy

ORPHA:45448Disease
Autosomal recessive

Moderate and severe traumatic brain injury

ORPHA:90056Situation
Not applicable

Moderate hemophilia A

ORPHA:169805Clin. sub.
X-linked recessive