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 ×

Classic multiminicore myopathy

Classic MmD · Classic multiminicore disease

ORPHA:324604

Addison disease

Primary Addison disease · Autoimmune adrenalitis

ORPHA:85138

Adult Refsum disease

Classic Refsum disease · HMSN 4

ORPHA:773

Classic Hodgkin lymphoma

Classic Hodgkin disease

ORPHA:391

Classic maple syrup urine disease

Classic BCKD deficiency · Classic MSUD

ORPHA:268145

HSD10 disease, infantile type

2-methyl-3-hydroxybutyric aciduria, classic type · 2-methyl-3-hydroxybutyric aciduria, infantile type

ORPHA:391428

Infantile Krabbe disease

Krabbe disease, classic form · Krabbe disease, early-onset

ORPHA:206436

Moderate multiminicore disease with hand involvement

ORPHA:178145

Multiminicore myopathy

MmD · Multiminicore disease

ORPHA:598