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 ×

Dentinogenesis imperfecta

DGI · DGI without OI

ORPHA:49042

High bone mass osteogenesis imperfecta

High bone mass OI

ORPHA:314029

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 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

Rare disease with dentinogenesis imperfecta

ORPHA:167762