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"

12 matching diseasesClear search ×

Atelosteogenesis type I

AO1 · AOI

ORPHA:1190

Achondrogenesis type 1A

Achondrogenesis, Houston-Harris type

ORPHA:93299

Achondrogenesis type 1B

Achondrogenesis, Parenti-Fraccaro type

ORPHA:93298

Achondrogenesis type 2

Achondrogenesis, Langer-Saldino type

ORPHA:93296

Atelosteogenesis type II

Atelosteogenesis type 2 · De la Chapelle dysplasia

ORPHA:56304

Atelosteogenesis type III

AO3 · AOIII

ORPHA:56305

Hypoplastic amelogenesis imperfecta

Amelogenesis imperfecta type 1

ORPHA:100031

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

Osteogenesis imperfecta type 5

OI type 5

ORPHA:216828