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"

200 matching diseasesClear search ×

Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect

COXPD28 · Combined oxidative phosphorylation defect type 28

ORPHA:466784

Neuro-ophthalmological disease

ORPHA:140653

Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome

GPAA1-related biosynthesis defect

ORPHA:529665

OBSOLETE: Adult pulmonary Langerhans cell histiocytosis

OBSOLETE: Pulmonary histiocytosis X

ORPHA:99874

OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome

ORPHA:99987

OBSOLETE: Aortopulmonary coronary arterial course

ORPHA:99086

OBSOLETE: Benign exophthalmos syndrome

OBSOLETE: BES

ORPHA:71269

OBSOLETE: Congenital unilateral pulmonary hypoplasia

ORPHA:2258