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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"
Familial cerebral cavernous malformation
Familial brain cavernous angioma · Familial cerebral cavernoma
Familial calcium pyrophosphate deposition
Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC
Familial cerebral saccular aneurysm
Familial berry aneurysm · Familial intracranial saccular aneurysm
Familial melanoma
Hereditary breast cancer
Familial breast cancer · Familial breast carcinoma
ITM2B amyloidosis
ITM2B-related amyloidosis · ITM2B-related cerebral amyloid angiopathy