Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Glutamate-cysteine ligase deficiency
Autosomal recessive
Infancy
Glutaric acidemia type 3
Autosomal recessive
All ages
Glutaryl-CoA dehydrogenase deficiency
Autosomal recessive
Infancy, Neonatal
Glutathione synthetase deficiency
Autosomal recessive
Neonatal
Glycine encephalopathy
Autosomal recessive
Infancy, Neonatal
Glycogen storage disease due to acid maltase deficiency
Autosomal recessive
Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
Glycogen storage disease due to aldolase A deficiency
Autosomal recessive
Neonatal
Glycogen storage disease due to glucose-6-phosphatase deficiency
Autosomal recessive
Infancy, Neonatal
Glycogen storage disease due to glycogen branching enzyme deficiency
Autosomal recessive
All ages
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 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
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
X-linked recessive
Adolescent, Adult, Childhood
Glycogen storage disease due to phosphoglycerate mutase deficiency
Autosomal recessive
Adolescent, Childhood
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
Autosomal recessive
Childhood
Goldmann-Favre syndrome
Autosomal recessive
Adolescent, Childhood