Rare Disease Library

Alpha-mannosidosis, adult form

Lysosomal alpha-D-mannosidase deficiency, adult form

Alpha-mannosidosis

Lysosomal alpha-D-mannosidase deficiency

Alpha-mannosidosis, infantile form

Lysosomal alpha-D-mannosidase deficiency, infantile form

Beta-mannosidosis

Beta-mannosidase deficiency

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

Fucosidosis

Alpha-L-fucosidase deficiency

Glycerol kinase deficiency, adult form

Glycogen storage disease due to acid maltase deficiency

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

Lysosomal acid lipase deficiency

LAL deficiency · LALD

Lysosomal acid phosphatase deficiency

Metachromatic leukodystrophy, adult form

Arylsulfatase A deficiency, adult form · MLD, adult form

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

Sandhoff disease, adult form

GM2 gangliosidosis, Sandhoff variant, adult form · GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form

Tay-Sachs disease, adult form

GM2 gangliosidosis, Tay-Sachs variant, adult form · GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form