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"

9 matching diseasesClear search ×

Enthesitis-related juvenile idiopathic arthritis

Enthesitis-related JIA · Juvenile ERA

ORPHA:85438

Juvenile absence epilepsy

JAE

ORPHA:1941

Juvenile dermatomyositis

Juvenile DM

ORPHA:93672

Juvenile glaucoma

ORPHA:98977

Juvenile nephropathic cystinosis

Intermediate cystinosis · Juvenile cystinosis

ORPHA:411634

Juvenile polymyositis

Juvenile PM

ORPHA:93568

Juvenile primary lateral sclerosis

JPLS · Juvenile PLS

ORPHA:247604

Metachromatic leukodystrophy, juvenile form

Arylsulfatase A deficiency, juvenile form · MLD, juvenile form

ORPHA:309263

Solitary bone cyst

Juvenile bone cyst

ORPHA:83468