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"

14 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

Glycogen storage disease due to acid maltase deficiency, infantile onset

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

ORPHA:308552

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

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

ORPHA:420429

Juvenile sialidosis type 2

ORPHA:93399

Juvenile-onset Steinert myotonic dystrophy

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

ORPHA:589827

OBSOLETE: Gastric neuroendocrine tumor type 1

OBSOLETE: GNET type 1

ORPHA:481469

OBSOLETE: Gastric neuroendocrine tumor type 2

OBSOLETE: GNET type 2

ORPHA:481475

OBSOLETE: Gastric neuroendocrine tumor type 3

OBSOLETE: GNET type 3

ORPHA:481478

OBSOLETE: Gastric neuroendocrine tumor type 4

OBSOLETE: GNET type 4

ORPHA:481481

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

ORPHA:308604

OBSOLETE: Hyperlipoproteinemia type 5

OBSOLETE: HLP type 5 · OBSOLETE: Major hyperlipidemia

ORPHA:70470

OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis

OBSOLETE: Juvenile CRMO

ORPHA:2778

OBSOLETE: Juvenile neuronal ceroid lipofuscinosis

OBSOLETE: Juvenile NCL · OBSOLETE: Juvenile CLN disease

ORPHA:79264

OBSOLETE: Juvenile-onset SAPHO syndrome

OBSOLETE: Juvenile-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome

ORPHA:324989