Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Glycogen storage disease due to glucose-6-phosphatase deficiency
Autosomal recessive
Infancy, Neonatal
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
Autosomal recessive
Infancy, Neonatal
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
Autosomal recessive
Infancy, Neonatal
Glycogen storage disease due to glycogen branching enzyme deficiency
Autosomal recessive
All ages
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Autosomal recessive
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Autosomal recessive
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Autosomal recessive
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Autosomal recessive
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Autosomal recessive
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Autosomal recessive
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Autosomal recessive
Glycogen storage disease due to glycogen debranching enzyme deficiency
Autosomal recessive
Childhood, Infancy
Glycogen storage disease due to hepatic glycogen synthase deficiency
Autosomal recessive
Childhood
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Autosomal dominant, Autosomal recessive
Adult
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Autosomal recessive
Childhood
Glycogen storage disease due to lactate dehydrogenase deficiency
Childhood
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Autosomal recessive
Childhood
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Autosomal recessive
Childhood
Glycogen storage disease due to liver phosphorylase kinase deficiency
Autosomal recessive, X-linked recessive
Childhood
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Autosomal recessive
Childhood
Glycogen storage disease due to muscle beta-enolase deficiency
Autosomal recessive
Adult
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Autosomal recessive
Adolescent, Adult, Childhood
Glycogen storage disease due to muscle phosphofructokinase deficiency
Autosomal recessive
Adolescent, Adult, Childhood, Infancy
Glycogen storage disease due to muscle phosphorylase kinase deficiency
Autosomal recessive, X-linked recessive
Adolescent, Adult