Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Unknown
Infancy, Neonatal
Mitochondrial membrane protein-associated neurodegeneration
Autosomal recessive
Adolescent, Adult, Childhood
Mitochondrial myopathy and sideroblastic anemia
Autosomal recessive
Adolescent, Childhood, Infancy
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Mitochondrial inheritance
Infancy, Neonatal
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Autosomal dominant
Adult, Infancy
Mitochondrial myopathy-lactic acidosis-deafness syndrome
No data available
Childhood
Mitochondrial neurogastrointestinal encephalomyopathy
Autosomal recessive
Adolescent, Adult, Childhood
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
Autosomal recessive
All ages
Mitochondrial pyruvate carrier deficiency
Autosomal recessive
Neonatal
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
Autosomal recessive
Childhood, Infancy, Neonatal
Mitochondrial trifunctional protein deficiency
Autosomal recessive
Infancy, Neonatal
Mixed connective tissue disease
Multigenic/multifactorial
Adolescent, Adult, Childhood
Mixed cryoglobulinemia type II
All ages
Mixed cryoglobulinemia type III
All ages
Mixed cystic lymphatic malformation
Not applicable
Infancy, Neonatal
Mixed germ cell tumor
Not applicable
Adolescent, Adult, Childhood
Mixed phenotype acute leukemia
Adolescent, Adult, Childhood
Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)
Not applicable
Adolescent, Adult, Childhood, Elderly
Mixed phenotype acute leukemia with t(v;11q23.3)
Not applicable
Adolescent, Adult, Childhood, Infancy
Mixed sclerosing bone dystrophy with extra-skeletal manifestations
Neonatal
Mixed-type autoimmune hemolytic anemia
Multigenic/multifactorial
All ages
Miyoshi myopathy
Autosomal recessive
Adult
Moderate and severe traumatic brain injury
Not applicable
All ages
Moderate hemophilia A
X-linked recessive
Infancy, Neonatal