Rare Disease Library

Dentinogenesis imperfecta

DGI · DGI without OI

Amelocerebrohypohidrotic syndrome

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

Amelogenesis imperfecta

Amelogenesis imperfecta-gingival hyperplasia syndrome

Brachyolmia-amelogenesis imperfecta syndrome

Platyspondyly-amelogenesis imperfecta syndrome · Verloes-Bourguignon syndrome

Dentinogenesis imperfecta type 2

Capdepont teeth · DGI-2

Dentinogenesis imperfecta type 3

Dentinogenesis imperfecta, Shields type 3

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

Dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome

Ehlers-Danlos/osteogenesis imperfecta syndrome

EDS/OI syndrome

Enamel-renal syndrome

Amelogenesis imperfecta-nephrocalcinosis syndrome

Jalili syndrome

Cone rod dystrophy-amelogenesis imperfecta syndrome

Malformative syndrome with dentinogenesis imperfecta

Non-syndromic rectal stenosis

Non-syndromic ARM with rectal stenosis · Non-syndromic anorectal malformation with rectal stenosis

Odontochondrodysplasia

Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome · Goldblatt chondrodysplasia

Osteogenesis imperfecta

Brittle bone disease · Glass bone disease

Osteogenesis imperfecta type 1

Adair-Dighton syndrome · Mild osteogenesis imperfecta

Osteogenesis imperfecta type 3

OI type 3 · Progressive deforming osteogenesis imperfecta

Rare disease with dentinogenesis imperfecta

Reticular dysgenesis-like severe combined immunodeficiency

Reticular dysgenesis-like SCID · Activated Rac2 defect

Trichodysplasia-amelogenesis imperfecta syndrome