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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы
Найдено 1,772 заболеваний (Порок) Сброс

Mucocutaneous venous malformations

ORPHA:2451Порок
Autosomal dominant

Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders

ORPHA:505248Порок
Autosomal recessive

Muenke syndrome

ORPHA:53271Порок
Autosomal dominant

Mulibrey nanism

ORPHA:2576Порок
Autosomal recessive

Multicentric carpo-tarsal osteolysis with or without nephropathy

ORPHA:2774Порок
Autosomal dominant

Multinodular goiter-cystic kidney-polydactyly syndrome

ORPHA:2091Порок
Autosomal dominant

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

ORPHA:500135Порок
Autosomal recessive

Multiple congenital anomalies-hypotonia-seizures syndrome

ORPHA:280633Порок
Autosomal recessive

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

ORPHA:300496Порок
X-linked recessive

Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome

ORPHA:659904Порок
Autosomal dominant

Multiple pterygium-malignant hyperthermia syndrome

ORPHA:2215Порок
Autosomal recessive

Multiple synostoses syndrome

ORPHA:3237Порок
Autosomal dominant

Muscle-eye-brain disease

ORPHA:588Порок
Autosomal recessive

Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome

ORPHA:324416Порок
Autosomal dominant

Myalgia-eosinophilia syndrome associated with tryptophan

ORPHA:2582Порок
Not applicable

Mycophenolate mofetil embryopathy

ORPHA:268249Порок
Not applicable

Myhre syndrome

ORPHA:2588Порок
Autosomal dominant

Myoclonic epilepsy in non-progressive encephalopathies

ORPHA:86913Порок

Myoclonus-cerebellar ataxia-deafness syndrome

ORPHA:2589Порок
Autosomal dominant

Müllerian aplasia and hyperandrogenism

ORPHA:247768Порок
Autosomal dominant, Not applicable

Müllerian derivatives-lymphangiectasia-polydactyly syndrome

ORPHA:1655Порок
Unknown

Müllerian duct anomalies-limb anomalies syndrome

ORPHA:2491Порок

N syndrome

ORPHA:2608Порок
X-linked recessive

NDE1-related microhydranencephaly

ORPHA:443162Порок
Autosomal recessive