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 ×

OBSOLETE: Juvenile neuronal ceroid lipofuscinosis

OBSOLETE: Juvenile NCL · OBSOLETE: Juvenile CLN disease

ORPHA:79264

Juvenile dermatomyositis

Juvenile DM

ORPHA:93672

Juvenile polymyositis

Juvenile PM

ORPHA:93568

OBSOLETE: Adult neuronal ceroid lipofuscinosis

OBSOLETE: ANCL · OBSOLETE: Adult NCL

ORPHA:79262

OBSOLETE: Bullous systemic lupus erythematosus

OBSOLETE: BSLE

ORPHA:46489

OBSOLETE: Congenital neuronal ceroid lipofuscinosis

OBSOLETE: Congenital NCL

ORPHA:168486

OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1

OBSOLETE: Familial juvenile gouty nephropathy · OBSOLETE: UMOD-associated familial juvenile hyperuricemic nephropathy

ORPHA:209886

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

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

ORPHA:308573

OBSOLETE: Infantile neuronal ceroid lipofuscinosis

OBSOLETE: INCL · OBSOLETE: Infantile NCL

ORPHA:79263

OBSOLETE: Junctional epidermolysis bullosa, non-Herlitz type

OBSOLETE: JEN-nH

ORPHA:89840

OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis

OBSOLETE: Juvenile CRMO

ORPHA:2778

OBSOLETE: Juvenile-onset SAPHO syndrome

OBSOLETE: Juvenile-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome

ORPHA:324989

OBSOLETE: Late infantile neuronal ceroid lipofuscinosis

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

ORPHA:168491

OBSOLETE: Non-idiopathic juvenile arthritis

ORPHA:93688