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"

16 matching diseasesClear search ×

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

Citrullinemia type II

Adult-onset citrin deficiency · CTLN2

ORPHA:247585

Glycogen storage disease due to acid maltase deficiency

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

ORPHA:365

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

OBSOLETE: Adult chronic recurrent multifocal osteomyelitis

OBSOLETE: Adult CRMO

ORPHA:93668

OBSOLETE: Adult neuronal ceroid lipofuscinosis

OBSOLETE: ANCL · OBSOLETE: Adult NCL

ORPHA:79262

OBSOLETE: Adult-onset SAPHO syndrome

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

ORPHA:324982

OBSOLETE: Autosomal dominant focal dystonia, DYT7 type

OBSOLETE: Adult-onset focal torsion dystonia · OBSOLETE: Adult-onset idiopathic torsion dystonia

ORPHA:93963

OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1

OBSOLETE: Familial juvenile gouty nephropathy · OBSOLETE: UMOD-associated familial juvenile hyperuricemic nephropathy

ORPHA:209886

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, juvenile onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, juvenile onset · OBSOLETE: GSD type 2, juvenile onset

ORPHA:308573

OBSOLETE: Hyperlipoproteinemia type 5

OBSOLETE: HLP type 5 · OBSOLETE: Major hyperlipidemia

ORPHA:70470