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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"
ALys amyloidosis
Familial amyloid nephropathy due to lysozyme variant · Familial renal amyloidosis due to lysozyme variant
AApoAI amyloidosis
Apolipoprotein A-I amyloidosis · Familial amyloid nephropathy due to apolipoprotein A-I variant
AApoAII amyloidosis
Apolipoprotein A-II amyloidosis · Familial amyloid nephropathy due to apolipoprotein A-II variant
AFib amyloidosis
Familial amyloid nephropathy due to fibrinogen A alpha-chain variant · Fibrinogen A alpha-chain amyloidosis
Hereditary amyloidosis with primary renal involvement
Amyloidosis, Ostertag type · Familial amyloid nephropathy
Hereditary ATTR amyloidosis
Familial TTR-related amyloidosis · Familial transthyretin-related amyloidosis
Hereditary cerebral amyloid angiopathy
HCHWA · Hereditary cerebral hemorrhage with amyloidosis