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"

13 matching diseasesClear search ×

Congenital laryngeal palsy

Congenital vocal cord paralysis

ORPHA:137932

Congenital abducens nerve palsy

Benign congenital sixth cranial nerve palsy · Congenital CNVI palsy

ORPHA:440233

Congenital megacalycosis

ORPHA:93109

Congenital microcoria

Congenital miosis

ORPHA:566

Congenital ptosis

ORPHA:91411

Congenital pulmonary vein atresia

Congenital PVA · CPVA

ORPHA:99126

Congenital trochlear nerve palsy

Congenital superior oblique palsy · Congenital CNIV palsy

ORPHA:98686

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

ORPHA:124

Distal hereditary motor neuropathy type 7

Distal spinal muscular atrophy with vocal cord paralysis · dHMN7

ORPHA:139589

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

ORPHA:264675

Isolated hereditary congenital facial paralysis

ORPHA:306527

Ptosis-vocal cord paralysis syndrome

Tucker syndrome

ORPHA:2997

Worster-Drought syndrome

Congenital suprabulbar paresis

ORPHA:3465