Rare Disease Library

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

Glycogen storage disease type IV, non progressive hepatic form · Glycogenosis type IV, non progressive hepatic form

Glycogen storage disease due to acid maltase deficiency

Alpha-1,4-glucosidase acid deficiency · GSD due to acid maltase deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

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

G6P deficiency type 1a · GSD type 1a

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

G6P translocase deficiency · G6PT deficiency

Glycogen storage disease due to glycogen branching enzyme deficiency

GSD due to glycogen branching enzyme deficiency · GSD type 4

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

GBE deficiency, adult neuromuscular form · GSD due to glycogen branching enzyme deficiency, adult neuromuscular form

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

GBE deficiency, childhood combined hepatic and myopathic form · GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

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

GBE deficiency, childhood neuromuscular form · GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form

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

Glycogen storage disease type IV, congenital neuromuscular form · Glycogenosis type IV, congenital neuromuscular form

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

Glycogen storage disease type IV, fatal perinatal neuromuscular form · Glycogenosis type IV, fatal perinatal neuromuscular form

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

GBE deficiency, progressive hepatic form · GSD due to glycogen branching enzyme deficiency, progressive hepatic form

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

GSD due to liver and muscle phosphorylase kinase deficiency · GSD type 9B

Glycogen storage disease due to liver phosphorylase kinase deficiency

GSD due to liver phosphorylase kinase deficiency · GSD type 9A

Glycogen storage disease due to muscle phosphorylase kinase deficiency

GSD due to muscle phosphorylase kinase deficiency · GSD type 9D

Glycogen storage disease due to phosphoglucomutase deficiency

GSD due to phosphoglucomutase deficiency · GSD type 14

Glycogen storage disease due to phosphorylase kinase deficiency

GSD due to phosphorylase kinase deficiency · GSD type 9

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Progressive familial intrahepatic cholestasis type 2

BSEP deficiency · PFIC2

Progressive familial intrahepatic cholestasis type 3

PFIC3

Progressive familial intrahepatic cholestasis type 4

TJP2 deficit · PFIC4

Progressive familial intrahepatic cholestasis type 5

NR1H4 deficiency · PFIC5