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 ×

Progressive myoclonic epilepsy type 5

EPM5 · PME type 5

ORPHA:402082

Dihydropteridine reductase deficiency

Hyperphenylalaninemia due to dihydropteridine reductase deficiency · PKU type 2

ORPHA:226

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

GSD due to muscle glycogen phosphorylase deficiency · GSD type 5

ORPHA:368

Lafora disease

EPM2 · PME type 2

ORPHA:501

Osteogenesis imperfecta type 5

OI type 5

ORPHA:216828

Peeling skin syndrome type A

Generalized peeling skin syndrome type A · Non-inflammatory generalized peeling skin syndrome type A.

ORPHA:263548

Peeling skin syndrome type B

Generalized peeling skin syndrome type B · Inflammatory peeling skin syndrome

ORPHA:263553

Progressive myoclonic epilepsy

PME · Progressive myoclonus epilepsy

ORPHA:98261

Progressive myoclonic epilepsy type 3

EPM3 · PME type 3

ORPHA:263516

Progressive myoclonic epilepsy type 6

EPM6 · GOSR2-related progressive myoclonus ataxia

ORPHA:280620

Progressive myoclonic epilepsy type 7

EPM7 · MEAK

ORPHA:435438

Progressive myoclonic epilepsy type 8

EPM8 · PME type 8

ORPHA:424027

Progressive myoclonic epilepsy type 9

EPM9 · PME type 9

ORPHA:457265

Pseudohypoaldosteronism type 1

PHA1 · PHA type 1

ORPHA:756