Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Mild hemophilia A
X-linked recessive
Infancy, Neonatal
Mild hemophilia B
X-linked recessive
Infancy, Neonatal
Mild hyperphenylalaninemia
Autosomal recessive
Infancy, Neonatal
Mild phosphoribosylpyrophosphate synthetase superactivity
X-linked recessive
Adolescent, Adult
Minimal pigment oculocutaneous albinism type 1
Autosomal recessive
Infancy, Neonatal
Moderate hemophilia A
X-linked recessive
Infancy, Neonatal
Moderate hemophilia B
X-linked recessive
Infancy, Neonatal
Moderate multiminicore disease with hand involvement
Autosomal dominant
Childhood, Infancy, Neonatal
Monostotic fibrous dysplasia
Not applicable
Mu-heavy chain disease
Adult
Mucolipidosis type III alpha/beta
Autosomal recessive
Adolescent, Adult, Childhood, Infancy, Neonatal
Mucolipidosis type III gamma
Autosomal recessive
Mucopolysaccharidosis type 2, attenuated form
X-linked recessive
Childhood
Mucopolysaccharidosis type 2, severe form
X-linked recessive
Childhood
Mucopolysaccharidosis type 4A
Autosomal recessive
Childhood
Mucopolysaccharidosis type 4B
Autosomal recessive
Mucopolysaccharidosis type 6, rapidly progressing
Autosomal recessive
Mucopolysaccharidosis type 6, slowly progressing
Autosomal recessive
Multiple acyl-CoA dehydrogenase deficiency, mild type
Autosomal recessive
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
Autosomal recessive
Infancy, Neonatal
Multiple endocrine neoplasia type 2A
Autosomal dominant
Childhood
Multiple endocrine neoplasia type 2B
Autosomal dominant
Childhood
Multiple system atrophy, cerebellar type
Not applicable
Adult
Multiple system atrophy, parkinsonian type
Not applicable
Adult