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"

102 matching diseasesClear search ×

Unclassified autoinflammatory syndrome of childhood

ORPHA:324953

Unexplained periodic fever syndrome of childhood

ORPHA:324960

Wild type ABeta2M amyloidosis

ABeta2Mwt amyloidosis · Dialysis-related amyloidosis

ORPHA:85446

Wild type ATTR amyloidosis

ATTRwt amyloidosis · ATTRwt-related amyloidosis

ORPHA:330001

Wildervanck syndrome

Cervicooculoacoustic syndrome

ORPHA:3456

Respiratory bronchiolitis-interstitial lung disease syndrome

RB-ILD

ORPHA:79127