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"

18 matching diseasesClear search ×

OBSOLETE: Hemochromatosis type 4

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

ORPHA:139491

Ferroportin disease

ORPHA:648562

OBSOLETE: Adult neuronal ceroid lipofuscinosis

OBSOLETE: ANCL · OBSOLETE: Adult NCL

ORPHA:79262

OBSOLETE: Argyrophilic grain disease

OBSOLETE: Braak disease

ORPHA:97342

OBSOLETE: Basement membrane disease

ORPHA:93550

OBSOLETE: Binswanger disease

ORPHA:1249

OBSOLETE: CLN4A disease

ORPHA:228340

OBSOLETE: CLN9 disease

ORPHA:228357

OBSOLETE: Farmer's lung disease

ORPHA:99906

OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, adult onset · OBSOLETE: GSD type 2, adulte onset

ORPHA:308604

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: Late infantile neuronal ceroid lipofuscinosis

OBSOLETE: Late infantile NCL · OBSOLETE: Jansky-Bielschowsky disease

ORPHA:168491

OBSOLETE: Letterer-Siwe disease

OBSOLETE: Acute and disseminated Langerhans cell histiocytosis

ORPHA:99870

OBSOLETE: Primary glomerular disease

ORPHA:102373

OBSOLETE: Rare acquired eye disease

ORPHA:101949

OBSOLETE: Sporadic Leigh syndrome

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

ORPHA:255199

OBSOLETE: Unstable hemoglobin disease

ORPHA:99139