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"

18 matching diseasesClear search ×

Osteogenesis imperfecta type 3

OI type 3 · Progressive deforming osteogenesis imperfecta

ORPHA:216812

Amelogenesis imperfecta

ORPHA:88661

Bruck syndrome

Osteogenesis imperfecta-congenital joint contractures syndrome

ORPHA:2771

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

ORPHA:2772

Dentinogenesis imperfecta

DGI · DGI without OI

ORPHA:49042

Dentinogenesis imperfecta type 2

Capdepont teeth · DGI-2

ORPHA:166260

Dentinogenesis imperfecta type 3

Dentinogenesis imperfecta, Shields type 3

ORPHA:166265

Ehlers-Danlos/osteogenesis imperfecta syndrome

EDS/OI syndrome

ORPHA:230857

High bone mass osteogenesis imperfecta

High bone mass OI

ORPHA:314029

Hypocalcified amelogenesis imperfecta

Amelogenesis imperfecta type 3

ORPHA:100032

Hypomaturation amelogenesis imperfecta

Amelogenesis imperfecta type 2

ORPHA:100033

Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism

Amelogenesis imperfecta type 4

ORPHA:100034

Hypoplastic amelogenesis imperfecta

Amelogenesis imperfecta type 1

ORPHA:100031

Osteogenesis imperfecta

Brittle bone disease · Glass bone disease

ORPHA:666

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 4

OI type 4

ORPHA:216820

Osteogenesis imperfecta type 5

OI type 5

ORPHA:216828