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"

19 matching diseasesClear search ×

Amelocerebrohypohidrotic syndrome

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

ORPHA:1946

Amelogenesis imperfecta

ORPHA:88661

Amelogenesis imperfecta-gingival hyperplasia syndrome

ORPHA:171836

Amish infantile epilepsy syndrome

Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome

ORPHA:171714

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

Ehlers-Danlos/osteogenesis imperfecta syndrome

EDS/OI syndrome

ORPHA:230857

Enamel-renal syndrome

Amelogenesis imperfecta-nephrocalcinosis syndrome

ORPHA:1031

Epilepsy syndrome

ORPHA:166463

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

Jalili syndrome

Cone rod dystrophy-amelogenesis imperfecta syndrome

ORPHA:1873

Malformative syndrome with dentinogenesis imperfecta

ORPHA:180766

Odontochondrodysplasia

Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome · Goldblatt chondrodysplasia

ORPHA:166272

Trichodysplasia-amelogenesis imperfecta syndrome

ORPHA:79129