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"

7 matching diseasesClear search ×

Primary hypertrophic osteoarthropathy

Idiopathic hypertrophic osteoarthropathy · PHO

ORPHA:248095

Cranio-osteoarthropathy

Currarino disease · Currarino idiopathic osteoarthropathy

ORPHA:1525

Glycogen storage disease with hypertrophic cardiomyopathy

GSD with hypertrophic cardiomyopathy · Glycogenosis with hypertrophic cardiomyopathy

ORPHA:217572

Idiopathic hypercalciuria

ORPHA:2197

Idiopathic hypersomnia

Idiopathic excessive sleepiness

ORPHA:33208

IgG4-related pachymeningitis

Idiopathic hypertrophic pachymeningitis

ORPHA:449427

Rare hypertrophic cardiomyopathy

ORPHA:217569