Rare Disease Library

Glycogen storage disease due to acid maltase deficiency, infantile onset

Glycogenosis type II, infantile onset · Glycogen storage disease type II, infantile onset

Alpha-mannosidosis, infantile form

Lysosomal alpha-D-mannosidase deficiency, infantile form

Alpha-N-acetylgalactosaminidase deficiency type 2

Adult-onset Alpha-N-acetylgalactosaminidase deficiency · Kanzaki disease

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

Fatal infantile cytochrome C oxidase deficiency

Fatal infantile COX deficiency · Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency

Fucosidosis

Alpha-L-fucosidase deficiency

Gaucher disease

Acid beta-glucosidase deficiency · Glucocerebrosidase 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 acid maltase deficiency, late-onset

GSD type II, late-onset · Glycogen storage disease type II, late-onset

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

Mucopolysaccharidosis type 1

Alpha-L-iduronidase deficiency · MPS1

OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, adult onset · OBSOLETE: GSD type 2, adulte onset

OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, juvenile onset · OBSOLETE: GSD type 2, juvenile onset

Sanfilippo syndrome type B

MPS3B · MPSIIIB

Tay-Sachs disease, infantile form

Beta-hexosaminidase subunit alpha deficiency, infantile form · GM2 gangliosidosis, Tay-Sachs variant, infantile form