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"

14 matching diseasesClear search ×

CODAS syndrome

Cerebrooculodentoauriculoskeletal syndrome

ORPHA:1458

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

ORPHA:2998

Cerebellar-facial-dental syndrome

Cerebellofaciodental syndrome

ORPHA:444072

Cerebrooculonasal syndrome

ORPHA:66625

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

ORPHA:1466

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

ORPHA:2318

Lacrimoauriculodentodigital syndrome

LADD syndrome · LARD syndrome

ORPHA:2363

Michels syndrome

3MC1 syndrome · Oculopalatoskeletal syndrome

ORPHA:2506

Oculo-palato-cerebral syndrome

Oculo-palato-cerebral dwarfism

ORPHA:2714

Oculoauriculofrontonasal syndrome

OAFNS

ORPHA:398156

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

ORPHA:534

Oculodentodigital dysplasia

Oculo-dento-digital dysplasia · ODOD syndrome

ORPHA:2710

Oculootodental syndrome

OOD

ORPHA:99806

Oculoskeletodental syndrome

Oculo-skeleto-dental syndrome

ORPHA:557003