Rare Disease Library

Tay-Sachs disease, adult form

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

Adult-onset Still disease

AOSD · Wissler-Fanconi syndrome

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

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

Hereditary late-onset Parkinson disease

Autosomal dominant late-onset Parkinson disease · LOPD

Late-infantile/juvenile Krabbe disease

Krabbe disease, late-onset

Late-onset Steinert myotonic dystrophy

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

OBSOLETE: Tay-Sachs disease, B1 variant

OBSOLETE: GM2 gangliosidosis, B1 variant · OBSOLETE: Hexosaminidase A deficiency, B1 variant

PRDM8-related progressive myoclonus epilepsy

Early-onset Lafora body disease

Tay-Sachs disease

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

Tay-Sachs disease, infantile form

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

Tay-Sachs disease, juvenile form

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