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"

6 matching diseasesClear search ×

Idiopathic juvenile osteoporosis

IJO · Juvenile osteoporosis

ORPHA:85193

Elastoma

Juvenile elastoma without osteopoikilosis · Nevus elasticus

ORPHA:228254

Idiopathic pregnancy-associated osteoporosis

PAO · Pregnancy and lactation-associated osteoporosis

ORPHA:647823

Juvenile dermatomyositis

Juvenile DM

ORPHA:93672

Juvenile nephropathic cystinosis

Intermediate cystinosis · Juvenile cystinosis

ORPHA:411634

Juvenile polymyositis

Juvenile PM

ORPHA:93568