Rare Disease Library

Glycogen storage disease due to acid maltase deficiency, late-onset

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

Adult-onset Steinert myotonic dystrophy

Adult-onset Steinert disease · Adult-onset myotonic dystrophy type 1

Adult-onset Still disease

AOSD · Wissler-Fanconi syndrome

Erythema palmare hereditarium

Lane disease · Red palms disease

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, infantile onset

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

Hereditary late-onset Parkinson disease

Autosomal dominant late-onset Parkinson disease · LOPD

Infantile Krabbe disease

Krabbe disease, classic form · Krabbe disease, early-onset

Late-infantile/juvenile Krabbe disease

Krabbe disease, late-onset

Late-onset junctional epidermolysis bullosa

JEB-lo · Epidermolysis bullosa progressiva

Late-onset Steinert myotonic dystrophy

Late-onset Steinert disease · Late-onset myotonic dystrophy type 1

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

Pediatric-onset Graves disease

Pediatric-onset Basedow disease

PRDM8-related progressive myoclonus epilepsy

Early-onset Lafora body disease

Tay-Sachs disease, adult form

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

Young-onset Parkinson disease

Early-onset Parkinson disease · YOPD