Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

54 matching diseasesClear search ×

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

ORPHA:308573

OBSOLETE: Juvenile neuronal ceroid lipofuscinosis

OBSOLETE: Juvenile NCL · OBSOLETE: Juvenile CLN disease

ORPHA:79264

Protracted juvenile CLN3 disease

Protacted neuronal ceroid lipofuscinosis type 3

ORPHA:699796

Sandhoff disease, juvenile form

Beta-hexosaminidase subunit beta deficiency, juvenile form · GM2 gangliosidosis, Sandhoff variant, juvenile form

ORPHA:309162

SURF1-related Charcot-Marie-Tooth disease type 4

CMT4K · Charcot-Marie-Tooth disease type 4K

ORPHA:391351

Tay-Sachs disease, juvenile form

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

ORPHA:309185