Rare Disease Library

Jalili syndrome

Cone rod dystrophy-amelogenesis imperfecta syndrome

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

Bruck syndrome

Osteogenesis imperfecta-congenital joint contractures syndrome

Cone rod dystrophy

Cone rod dystrophy-short stature syndrome

Dentinogenesis imperfecta

DGI · DGI without OI

Ehlers-Danlos/osteogenesis imperfecta syndrome

EDS/OI syndrome

Enamel-renal syndrome

Amelogenesis imperfecta-nephrocalcinosis syndrome

Hypocalcified amelogenesis imperfecta

Amelogenesis imperfecta type 3

Hypomaturation amelogenesis imperfecta

Amelogenesis imperfecta type 2

Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism

Amelogenesis imperfecta type 4

Hypoplastic amelogenesis imperfecta

Amelogenesis imperfecta type 1

Malformative syndrome with dentinogenesis imperfecta

OBSOLETE: Cleft lip-retinopathy syndrome

OBSOLETE: Cleft lip-progressive retinopathy syndrome · OBSOLETE: Ausems-Wittebol Post-Hennekam syndrome

OBSOLETE: Syndromic rod-cone dystrophy

OBSOLETE: Syndromic retinitis pigmentosa

Odontochondrodysplasia

Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome · Goldblatt chondrodysplasia

Progressive retinal dystrophy due to retinol transport defect

Retinol dystrophy-iris coloboma-comedogenic acne syndrome

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

SMD-CRD

Trichodysplasia-amelogenesis imperfecta syndrome