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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Glycogen storage disease due to glucose-6-phosphatase deficiency

ORPHA:364Disease
Autosomal recessive

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia

ORPHA:79258Clin. sub.
Autosomal recessive

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

ORPHA:79259Clin. sub.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency

ORPHA:367Disease
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form

ORPHA:308712Clin. sub.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

ORPHA:308684Clin. sub.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form

ORPHA:308698Clin. sub.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form

ORPHA:308670Clin. sub.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form

ORPHA:308655Clin. sub.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form

ORPHA:308638Clin. sub.
Autosomal recessive

Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form

ORPHA:308621Clin. sub.
Autosomal recessive

Glycogen storage disease due to glycogen debranching enzyme deficiency

ORPHA:366Disease
Autosomal recessive

Glycogen storage disease due to hepatic glycogen synthase deficiency

ORPHA:2089Disease
Autosomal recessive

Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

ORPHA:284435Clin. sub.
Autosomal dominant, Autosomal recessive

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

ORPHA:284426Clin. sub.
Autosomal recessive

Glycogen storage disease due to lactate dehydrogenase deficiency

ORPHA:2364Disease

Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

ORPHA:79240Disease
Autosomal recessive

Glycogen storage disease due to liver glycogen phosphorylase deficiency

ORPHA:369Disease
Autosomal recessive

Glycogen storage disease due to liver phosphorylase kinase deficiency

ORPHA:264580Disease
Autosomal recessive, X-linked recessive

Glycogen storage disease due to muscle and heart glycogen synthase deficiency

ORPHA:137625Disease
Autosomal recessive

Glycogen storage disease due to muscle beta-enolase deficiency

ORPHA:99849Disease
Autosomal recessive

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

ORPHA:368Disease
Autosomal recessive

Glycogen storage disease due to muscle phosphofructokinase deficiency

ORPHA:371Disease
Autosomal recessive

Glycogen storage disease due to muscle phosphorylase kinase deficiency

ORPHA:715Disease
Autosomal recessive, X-linked recessive