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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы
Найдено 3,968 заболеваний (Disease) Сброс

Muscle-eye-brain disease with bilateral multicystic leucodystrophy

ORPHA:370997Disease
Autosomal recessive

Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

ORPHA:2579Disease
Autosomal dominant

Muscular pseudohypertrophy-hypothyroidism syndrome

ORPHA:2349Disease

Musculocontractural Ehlers-Danlos syndrome

ORPHA:2953Disease
Autosomal recessive

Mutilating hereditary sensory neuropathy with spastic paraplegia

ORPHA:139578Disease
Autosomal recessive

Mutilating palmoplantar keratoderma with periorificial keratotic plaques

ORPHA:659Disease
Autosomal dominant, Not applicable, X-linked recessive

Myasthenia gravis

ORPHA:589Disease
Multigenic/multifactorial, Not applicable

Mycetoma

ORPHA:2583Disease
Not applicable

Mycoplasma encephalitis

ORPHA:83482Disease
Not applicable

Myelodysplastic neoplasm with increased blasts

ORPHA:86839Disease
Not applicable

Myelodysplastic neoplasm with low blasts

ORPHA:98826Disease
Not applicable

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

ORPHA:86841Disease
Not applicable

Myeloid sarcoma

ORPHA:86850Disease
Not applicable

Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement

ORPHA:168953Disease

Myeloid/lymphoid neoplasm associated with JAK2 rearrangement

ORPHA:589542Disease

Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement

ORPHA:168947Disease

Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement

ORPHA:168950Disease

Myeloperoxidase deficiency

ORPHA:2587Disease
Autosomal recessive

Myoclonic epilepsy of infancy

ORPHA:86909Disease
Autosomal recessive

Myoclonus-dystonia syndrome

ORPHA:36899Disease
Autosomal dominant, Not applicable

Myopathic Ehlers-Danlos syndrome

ORPHA:536516Disease
Autosomal dominant, Autosomal recessive

Myopathy and diabetes mellitus

ORPHA:2596Disease
Mitochondrial inheritance

Myosclerosis

ORPHA:289380Disease
Autosomal recessive

Myosin storage myopathy

ORPHA:53698Disease
Autosomal dominant, Autosomal recessive