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"

2 matching diseasesClear search ×

Timothy syndrome type 1

TS1 · LQT8 type 1

ORPHA:595098

Virus-associated trichodysplasia spinulosa

Cyclosporine-induced folliculodystrophy · Pilomatrix dysplasia

ORPHA:228379