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 ×

Parkinson-dementia complex of Guam

Guam parkinsonism-dementia complex · Guam disease

ORPHA:90020

Best vitelliform macular dystrophy

BMD · BVMD

ORPHA:1243

Erythema palmare hereditarium

Lane disease · Red palms disease

ORPHA:231031

Lyme disease

Lyme borreliosis

ORPHA:91546

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

ORPHA:534

Senior-Boichis syndrome

Boichis disease · Nephronophthisis-hepatic fibrosis syndrome

ORPHA:84081