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 ×

Progressive non-fluent aphasia

Agramatic variant of PPA · Agramatic variant of primary progressive aphasia

ORPHA:100070

Logopenic progressive aphasia

LPA · Logopenic primary progressive aphasia

ORPHA:250831

Mild phenylketonuria

Mild PKU · mPKU

ORPHA:79253

Semantic dementia

Semantic primary progressive aphasia · Semantic variant PPA

ORPHA:100069