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"

17 matching diseasesClear search ×

OBSOLETE: Sporadic Leigh syndrome

OBSOLETE: Sporadic Leigh disease · OBSOLETE: Sporadic infantile subacute necrotizing encephalopathy

ORPHA:255199

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

ORPHA:506

OBSOLETE: Adult neuronal ceroid lipofuscinosis

OBSOLETE: ANCL · OBSOLETE: Adult NCL

ORPHA:79262

OBSOLETE: Argyrophilic grain disease

OBSOLETE: Braak disease

ORPHA:97342

OBSOLETE: Binswanger disease

ORPHA:1249

OBSOLETE: CLN4A disease

ORPHA:228340

OBSOLETE: CLN9 disease

ORPHA:228357

OBSOLETE: Farmer's lung disease

ORPHA:99906

OBSOLETE: Hemochromatosis type 4

OBSOLETE: Ferroportin disease · OBSOLETE: Hemochromatosis due to defect in ferroportin

ORPHA:139491

OBSOLETE: Infantile neuronal ceroid lipofuscinosis

OBSOLETE: INCL · OBSOLETE: Infantile NCL

ORPHA:79263

OBSOLETE: Juvenile neuronal ceroid lipofuscinosis

OBSOLETE: Juvenile NCL · OBSOLETE: Juvenile CLN disease

ORPHA:79264

OBSOLETE: Letterer-Siwe disease

OBSOLETE: Acute and disseminated Langerhans cell histiocytosis

ORPHA:99870

OBSOLETE: Pediatric Castleman disease

ORPHA:93682

OBSOLETE: Pigeon-breeder lung disease

OBSOLETE: Bird fancier lung

ORPHA:99908

OBSOLETE: Sporadic achalasia

ORPHA:99722

OBSOLETE: Sporadic pheochromocytoma

ORPHA:276624

OBSOLETE: Systemic disease with cataract

ORPHA:98643