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"

9 matching diseasesClear search ×

Osteogenesis imperfecta type 5

OI type 5

ORPHA:216828

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

GSD due to muscle glycogen phosphorylase deficiency · GSD type 5

ORPHA:368

OBSOLETE: Hyperlipoproteinemia type 5

OBSOLETE: HLP type 5 · OBSOLETE: Major hyperlipidemia

ORPHA:70470

Osteogenesis imperfecta type 1

Adair-Dighton syndrome · Mild osteogenesis imperfecta

ORPHA:216796

Osteogenesis imperfecta type 2

Lethal osteogenesis imperfecta · OI type 2

ORPHA:216804

Osteogenesis imperfecta type 3

OI type 3 · Progressive deforming osteogenesis imperfecta

ORPHA:216812

Osteogenesis imperfecta type 4

OI type 4

ORPHA:216820

Progressive myoclonic epilepsy type 5

EPM5 · PME type 5

ORPHA:402082

Temperature-sensitive oculocutaneous albinism type 1

OCA1-TS · TS OCA type 1

ORPHA:352737