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"

8 matching diseasesClear search ×

Lacrimoauriculodentodigital syndrome

LADD syndrome · LARD syndrome

ORPHA:2363

CODAS syndrome

Cerebrooculodentoauriculoskeletal syndrome

ORPHA:1458

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

ORPHA:662240

Oculofaciocardiodental syndrome

OFCD syndrome · Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome

ORPHA:2712

Oculootodental syndrome

OOD

ORPHA:99806

Oculoskeletodental syndrome

Oculo-skeleto-dental syndrome

ORPHA:557003

Otodental syndrome

Globodontia · Otodental dysplasia

ORPHA:2791

Trichodental syndrome

Kersey syndrome

ORPHA:3351