MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

Muscle-eye-brain disease with bilateral multicystic leucodystrophy

ORPHA:370997Заболевание
Autosomal recessive

Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

ORPHA:2579Заболевание
Autosomal dominant

Muscular pseudohypertrophy-hypothyroidism syndrome

ORPHA:2349Заболевание

Musculocontractural Ehlers-Danlos syndrome

ORPHA:2953Заболевание
Autosomal recessive

Mutilating hereditary sensory neuropathy with spastic paraplegia

ORPHA:139578Заболевание
Autosomal recessive

Mutilating palmoplantar keratoderma with periorificial keratotic plaques

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

Myasthenia gravis

ORPHA:589Заболевание
Multigenic/multifactorial, Not applicable

Mycetoma

ORPHA:2583Заболевание
Not applicable

Mycoplasma encephalitis

ORPHA:83482Заболевание
Not applicable

Myelodysplastic neoplasm with increased blasts

ORPHA:86839Заболевание
Not applicable

Myelodysplastic neoplasm with low blasts

ORPHA:98826Заболевание
Not applicable

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

ORPHA:86841Заболевание
Not applicable

Myeloid sarcoma

ORPHA:86850Заболевание
Not applicable

Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement

ORPHA:168953Заболевание

Myeloid/lymphoid neoplasm associated with JAK2 rearrangement

ORPHA:589542Заболевание

Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement

ORPHA:168947Заболевание

Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement

ORPHA:168950Заболевание

Myeloperoxidase deficiency

ORPHA:2587Заболевание
Autosomal recessive

Myoclonic epilepsy of infancy

ORPHA:86909Заболевание
Autosomal recessive

Myoclonus-dystonia syndrome

ORPHA:36899Заболевание
Autosomal dominant, Not applicable

Myopathic Ehlers-Danlos syndrome

ORPHA:536516Заболевание
Autosomal dominant, Autosomal recessive

Myopathy and diabetes mellitus

ORPHA:2596Заболевание
Mitochondrial inheritance

Myosclerosis

ORPHA:289380Заболевание
Autosomal recessive

Myosin storage myopathy

ORPHA:53698Заболевание
Autosomal dominant, Autosomal recessive