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"

16 matching diseasesClear search ×

Enamel-renal syndrome

Amelogenesis imperfecta-nephrocalcinosis syndrome

ORPHA:1031

Amelocerebrohypohidrotic syndrome

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

ORPHA:1946

Amelogenesis imperfecta

ORPHA:88661

Amelogenesis imperfecta-gingival hyperplasia syndrome

ORPHA:171836

Blue diaper syndrome

Drummond syndrome · Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome

ORPHA:94086

Brachyolmia-amelogenesis imperfecta syndrome

Platyspondyly-amelogenesis imperfecta syndrome · Verloes-Bourguignon syndrome

ORPHA:2899

Dent disease

Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis

ORPHA:1652

Dentinogenesis imperfecta

DGI · DGI without OI

ORPHA:49042

Ehlers-Danlos/osteogenesis imperfecta syndrome

EDS/OI syndrome

ORPHA:230857

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

Trichodysplasia-amelogenesis imperfecta syndrome

ORPHA:79129