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"

11 matching diseasesClear search ×

Juvenile primary lateral sclerosis

JPLS · Juvenile PLS

ORPHA:247604

Aggressive periodontitis

Susceptibility to localized juvenile periodontitis · AgP

ORPHA:447740

Enthesitis-related juvenile idiopathic arthritis

Enthesitis-related JIA · Juvenile ERA

ORPHA:85438

Juvenile dermatomyositis

Juvenile DM

ORPHA:93672

Juvenile glaucoma

ORPHA:98977

Juvenile nephropathic cystinosis

Intermediate cystinosis · Juvenile cystinosis

ORPHA:411634

Juvenile Paget disease

Familial osteoectasia · Hereditary hyperphosphatasia

ORPHA:2801

Juvenile polymyositis

Juvenile PM

ORPHA:93568

Metachromatic leukodystrophy, juvenile form

Arylsulfatase A deficiency, juvenile form · MLD, juvenile form

ORPHA:309263

Polyarticular juvenile idiopathic arthritis

Juvenile polyarticular arthritis · Juvenile polyarthritis

ORPHA:404580

Solitary bone cyst

Juvenile bone cyst

ORPHA:83468