MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 1,772 заболеваний (Мальформация)Сбросить

Mucocutaneous venous malformations

ORPHA:2451Мальформация
Autosomal dominant

Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders

ORPHA:505248Мальформация
Autosomal recessive

Muenke syndrome

ORPHA:53271Мальформация
Autosomal dominant

Mulibrey nanism

ORPHA:2576Мальформация
Autosomal recessive

Multicentric carpo-tarsal osteolysis with or without nephropathy

ORPHA:2774Мальформация
Autosomal dominant

Multinodular goiter-cystic kidney-polydactyly syndrome

ORPHA:2091Мальформация
Autosomal dominant

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

ORPHA:500135Мальформация
Autosomal recessive

Multiple congenital anomalies-hypotonia-seizures syndrome

ORPHA:280633Мальформация
Autosomal recessive

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

ORPHA:300496Мальформация
X-linked recessive

Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome

ORPHA:659904Мальформация
Autosomal dominant

Multiple pterygium-malignant hyperthermia syndrome

ORPHA:2215Мальформация
Autosomal recessive

Multiple synostoses syndrome

ORPHA:3237Мальформация
Autosomal dominant

Muscle-eye-brain disease

ORPHA:588Мальформация
Autosomal recessive

Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome

ORPHA:324416Мальформация
Autosomal dominant

Myalgia-eosinophilia syndrome associated with tryptophan

ORPHA:2582Мальформация
Not applicable

Mycophenolate mofetil embryopathy

ORPHA:268249Мальформация
Not applicable

Myhre syndrome

ORPHA:2588Мальформация
Autosomal dominant

Myoclonic epilepsy in non-progressive encephalopathies

ORPHA:86913Мальформация

Myoclonus-cerebellar ataxia-deafness syndrome

ORPHA:2589Мальформация
Autosomal dominant

Müllerian aplasia and hyperandrogenism

ORPHA:247768Мальформация
Autosomal dominant, Not applicable

Müllerian derivatives-lymphangiectasia-polydactyly syndrome

ORPHA:1655Мальформация
Unknown

Müllerian duct anomalies-limb anomalies syndrome

ORPHA:2491Мальформация

N syndrome

ORPHA:2608Мальформация
X-linked recessive

NDE1-related microhydranencephaly

ORPHA:443162Мальформация
Autosomal recessive