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 ×

Odontochondrodysplasia

Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome · Goldblatt chondrodysplasia

ORPHA:166272

Amelocerebrohypohidrotic syndrome

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

ORPHA:1946

Amelogenesis imperfecta-gingival hyperplasia syndrome

ORPHA:171836

Brachyolmia-amelogenesis imperfecta syndrome

Platyspondyly-amelogenesis imperfecta syndrome · Verloes-Bourguignon syndrome

ORPHA:2899

Bruck syndrome

Osteogenesis imperfecta-congenital joint contractures syndrome

ORPHA:2771

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

Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome

Dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome

ORPHA:71267

Jalili syndrome

Cone rod dystrophy-amelogenesis imperfecta syndrome

ORPHA:1873

Malformative syndrome with dentinogenesis imperfecta

ORPHA:180766

Trichodysplasia-amelogenesis imperfecta syndrome

ORPHA:79129