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"

15 matching diseasesClear search ×

Cerebral cortical dysplasia

Brain cortical dysplasia

Caudal regression syndrome

Caudal dysgenesis syndrome · Caudal dysplasia

CNTNAP2-related developmental and epileptic encephalopathy

CDFE syndrome · CDFES

Congenital aortic valve dysplasia

Dentin dysplasia

DD

Dysplastic cortical hyperostosis

Isolated focal cortical dysplasia

Epilepsy due to FCD

Isolated focal cortical dysplasia type I

FCD type I

Isolated focal cortical dysplasia type Ia

FCD type Ia

Isolated focal cortical dysplasia type Ib

FCD type Ib

Isolated focal cortical dysplasia type Ic

FCD type Ic

Isolated focal cortical dysplasia type II

Cortical dysplasia, Taylor type · FCD type II

Isolated focal cortical dysplasia type IIa

FCD type IIa

Isolated focal cortical dysplasia type IIb

FCD type IIb

Renal dysplasia

Kidney dysplasia