Rare Disease Library

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

G6P translocase deficiency · G6PT deficiency

Activated PI3K-delta syndrome 1

Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta activating mutations, type 1 · Activated p110delta syndrome, type 1

Autoimmune hepatitis type 1

AIH type 1

Autoimmune pancreatitis type 1

AIP type 1 · IgG4-related pancreatitis

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Danon disease

GSD due to LAMP-2 deficiency · Glycogenosis due to LAMP-2 deficiency

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 aldolase A deficiency

GSD due to aldolase A deficiency · GSD type 12

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 glycogen branching enzyme deficiency

GSD due to glycogen branching enzyme deficiency · GSD type 4

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

Glycogen storage disease due to hepatic glycogen synthase deficiency

GSD due to hepatic glycogen synthase deficiency · GSD type 0a

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 glycogen phosphorylase deficiency

GSD due to liver glycogen phosphorylase deficiency · Glycogen storage disease type 6

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 and heart glycogen synthase deficiency

Glycogenosis due to muscle and heart glycogen synthase deficiency · Glycogenosis type 0b

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

GSD due to muscle glycogen phosphorylase deficiency · GSD type 5

Glycogen storage disease due to muscle phosphofructokinase deficiency

GSD due to muscle phosphofructokinase deficiency · GSD type 7

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 phosphoglycerate mutase deficiency

Glycogen storage disease due to phosphoglycerate mutase 2 deficiency · GSD type 10

Glycogen storage disease due to phosphorylase kinase deficiency

GSD due to phosphorylase kinase deficiency · GSD type 9

Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

GSD type 15 · GSD type XV

Osteogenesis imperfecta type 1

Adair-Dighton syndrome · Mild osteogenesis imperfecta