Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Autosomal recessive
Infancy
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
Autosomal dominant
Childhood
Muscular pseudohypertrophy-hypothyroidism syndrome
Childhood
Musculocontractural Ehlers-Danlos syndrome
Autosomal recessive
Infancy, Neonatal
Mutilating hereditary sensory neuropathy with spastic paraplegia
Autosomal recessive
Childhood, Infancy
Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Autosomal dominant, Not applicable, X-linked recessive
Childhood, Infancy, Neonatal
Myasthenia gravis
Multigenic/multifactorial, Not applicable
All ages
Mycetoma
Not applicable
All ages
Mycoplasma encephalitis
Not applicable
All ages
Myelodysplastic neoplasm with increased blasts
Not applicable
Adult
Myelodysplastic neoplasm with low blasts
Not applicable
Adolescent, Adult, Childhood, Elderly, Infancy
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Not applicable
Adult
Myeloid sarcoma
Not applicable
All ages
Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement
Myeloid/lymphoid neoplasm associated with JAK2 rearrangement
Adolescent, Adult, Childhood, Elderly
Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement
Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement
Myeloperoxidase deficiency
Autosomal recessive
All ages
Myoclonic epilepsy of infancy
Autosomal recessive
Infancy
Myoclonus-dystonia syndrome
Autosomal dominant, Not applicable
Adolescent, Adult, Childhood
Myopathic Ehlers-Danlos syndrome
Autosomal dominant, Autosomal recessive
Antenatal, Infancy, Neonatal
Myopathy and diabetes mellitus
Mitochondrial inheritance
Adolescent, Adult, Childhood, Infancy, Neonatal
Myosclerosis
Autosomal recessive
Childhood
Myosin storage myopathy
Autosomal dominant, Autosomal recessive