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"

3 matching diseasesClear search ×

ABeta amyloidosis, Dutch type

HCHWA, Dutch type · HCHWA-D

ORPHA:100006

ABeta amyloidosis, Iowa type

ABetaD23N amyloidosis · HCHWA, Iowa type

ORPHA:324708

Hereditary cerebral amyloid angiopathy

HCHWA · Hereditary cerebral hemorrhage with amyloidosis

ORPHA:85458