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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Mucocutaneous venous malformations

ORPHA:2451Malform.
Autosomal dominant

Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders

ORPHA:505248Malform.
Autosomal recessive

Muenke syndrome

ORPHA:53271Malform.
Autosomal dominant

Mulibrey nanism

ORPHA:2576Malform.
Autosomal recessive

Multicentric carpo-tarsal osteolysis with or without nephropathy

ORPHA:2774Malform.
Autosomal dominant

Multinodular goiter-cystic kidney-polydactyly syndrome

ORPHA:2091Malform.
Autosomal dominant

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

ORPHA:500135Malform.
Autosomal recessive

Multiple congenital anomalies-hypotonia-seizures syndrome

ORPHA:280633Malform.
Autosomal recessive

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

ORPHA:300496Malform.
X-linked recessive

Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome

ORPHA:659904Malform.
Autosomal dominant

Multiple pterygium-malignant hyperthermia syndrome

ORPHA:2215Malform.
Autosomal recessive

Multiple synostoses syndrome

ORPHA:3237Malform.
Autosomal dominant

Muscle-eye-brain disease

ORPHA:588Malform.
Autosomal recessive

Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome

ORPHA:324416Malform.
Autosomal dominant

Myalgia-eosinophilia syndrome associated with tryptophan

ORPHA:2582Malform.
Not applicable

Mycophenolate mofetil embryopathy

ORPHA:268249Malform.
Not applicable

Myhre syndrome

ORPHA:2588Malform.
Autosomal dominant

Myoclonic epilepsy in non-progressive encephalopathies

ORPHA:86913Malform.

Myoclonus-cerebellar ataxia-deafness syndrome

ORPHA:2589Malform.
Autosomal dominant

Müllerian aplasia and hyperandrogenism

ORPHA:247768Malform.
Autosomal dominant, Not applicable

Müllerian derivatives-lymphangiectasia-polydactyly syndrome

ORPHA:1655Malform.
Unknown

Müllerian duct anomalies-limb anomalies syndrome

ORPHA:2491Malform.

N syndrome

ORPHA:2608Malform.
X-linked recessive

NDE1-related microhydranencephaly

ORPHA:443162Malform.
Autosomal recessive