Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Mucocutaneous venous malformations
Autosomal dominant
All ages
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Autosomal recessive
Infancy
Muenke syndrome
Autosomal dominant
Antenatal, Neonatal
Mulibrey nanism
Autosomal recessive
Antenatal, Childhood, Infancy, Neonatal
Multicentric carpo-tarsal osteolysis with or without nephropathy
Autosomal dominant
Childhood
Multinodular goiter-cystic kidney-polydactyly syndrome
Autosomal dominant
Antenatal, Neonatal
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Autosomal recessive
Antenatal
Multiple congenital anomalies-hypotonia-seizures syndrome
Autosomal recessive
Antenatal, Infancy, Neonatal
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
X-linked recessive
Antenatal, Infancy, Neonatal
Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome
Autosomal dominant
Multiple pterygium-malignant hyperthermia syndrome
Autosomal recessive
Neonatal
Multiple synostoses syndrome
Autosomal dominant
Childhood
Muscle-eye-brain disease
Autosomal recessive
Antenatal, Infancy, Neonatal
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
Autosomal dominant
Infancy, Neonatal
Myalgia-eosinophilia syndrome associated with tryptophan
Not applicable
All ages
Mycophenolate mofetil embryopathy
Not applicable
Antenatal, Infancy, Neonatal
Myhre syndrome
Autosomal dominant
Antenatal, Infancy, Neonatal
Myoclonic epilepsy in non-progressive encephalopathies
Childhood, Infancy
Myoclonus-cerebellar ataxia-deafness syndrome
Autosomal dominant
Childhood
Müllerian aplasia and hyperandrogenism
Autosomal dominant, Not applicable
Infancy, Neonatal
Müllerian derivatives-lymphangiectasia-polydactyly syndrome
Unknown
Antenatal, Neonatal
Müllerian duct anomalies-limb anomalies syndrome
Neonatal
N syndrome
X-linked recessive
Infancy, Neonatal
NDE1-related microhydranencephaly
Autosomal recessive
Antenatal, Neonatal