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"

23 matching diseasesClear search ×

Hypocalcified amelogenesis imperfecta

Amelogenesis imperfecta type 3

ORPHA:100032

Amelocerebrohypohidrotic syndrome

Epilepsy-dementia-amelogenesis imperfecta syndrome · Kohlschütter-Tönz syndrome

ORPHA:1946

Amelogenesis imperfecta

ORPHA:88661

Amelogenesis imperfecta-gingival hyperplasia syndrome

ORPHA:171836

Atelosteogenesis type I

AO1 · AOI

ORPHA:1190

Atelosteogenesis type II

Atelosteogenesis type 2 · De la Chapelle dysplasia

ORPHA:56304

Atelosteogenesis type III

AO3 · AOIII

ORPHA:56305

Brachyolmia-amelogenesis imperfecta syndrome

Platyspondyly-amelogenesis imperfecta syndrome · Verloes-Bourguignon syndrome

ORPHA:2899

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

Enamel-renal syndrome

Amelogenesis imperfecta-nephrocalcinosis syndrome

ORPHA:1031

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

Jalili syndrome

Cone rod dystrophy-amelogenesis imperfecta syndrome

ORPHA:1873

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

Trichodysplasia-amelogenesis imperfecta syndrome

ORPHA:79129