MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

Glutamate-cysteine ligase deficiency

ORPHA:33574Заболевание
Autosomal recessive

Glutaric acidemia type 3

ORPHA:35706Заболевание
Autosomal recessive

Glutaryl-CoA dehydrogenase deficiency

ORPHA:25Заболевание
Autosomal recessive

Glutathione synthetase deficiency

ORPHA:32Заболевание
Autosomal recessive

Glycine encephalopathy

ORPHA:407Заболевание
Autosomal recessive

Glycogen storage disease due to acid maltase deficiency

ORPHA:365Заболевание
Autosomal recessive

Glycogen storage disease due to aldolase A deficiency

ORPHA:57Заболевание
Autosomal recessive

Glycogen storage disease due to glucose-6-phosphatase deficiency

ORPHA:364Заболевание
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency

ORPHA:367Заболевание
Autosomal recessive

Glycogen storage disease due to glycogen debranching enzyme deficiency

ORPHA:366Заболевание
Autosomal recessive

Glycogen storage disease due to hepatic glycogen synthase deficiency

ORPHA:2089Заболевание
Autosomal recessive

Glycogen storage disease due to lactate dehydrogenase deficiency

ORPHA:2364Заболевание

Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

ORPHA:79240Заболевание
Autosomal recessive

Glycogen storage disease due to liver glycogen phosphorylase deficiency

ORPHA:369Заболевание
Autosomal recessive

Glycogen storage disease due to liver phosphorylase kinase deficiency

ORPHA:264580Заболевание
Autosomal recessive, X-linked recessive

Glycogen storage disease due to muscle and heart glycogen synthase deficiency

ORPHA:137625Заболевание
Autosomal recessive

Glycogen storage disease due to muscle beta-enolase deficiency

ORPHA:99849Заболевание
Autosomal recessive

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

ORPHA:368Заболевание
Autosomal recessive

Glycogen storage disease due to muscle phosphofructokinase deficiency

ORPHA:371Заболевание
Autosomal recessive

Glycogen storage disease due to muscle phosphorylase kinase deficiency

ORPHA:715Заболевание
Autosomal recessive, X-linked recessive

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

ORPHA:713Заболевание
X-linked recessive

Glycogen storage disease due to phosphoglycerate mutase deficiency

ORPHA:97234Заболевание
Autosomal recessive

Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

ORPHA:263297Заболевание
Autosomal recessive

Goldmann-Favre syndrome

ORPHA:53540Заболевание
Autosomal recessive