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"

4 matching diseasesClear search ×

Zygomycosis

Mucormycosis

ORPHA:73263

Mucolipidosis

ORPHA:79212

Multiple sulfatase deficiency

MSD · Austin disease

ORPHA:585

Rare mycosis

ORPHA:163591