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"

8 matching diseasesClear search ×

PrP systemic amyloidosis

Prion protein systemic amyloidosis · Chronic diarrhea with hereditary sensory and autonomic neuropathy

ORPHA:397606

AApoAI amyloidosis

Apolipoprotein A-I amyloidosis · Familial amyloid nephropathy due to apolipoprotein A-I variant

ORPHA:93560

AApoAII amyloidosis

Apolipoprotein A-II amyloidosis · Familial amyloid nephropathy due to apolipoprotein A-II variant

ORPHA:238269

AApoAIV amyloidosis

Apolipoprotein A-IV amyloidosis

ORPHA:439232

ACys amyloidosis

CST3-related amyloidosis · Cystatin amyloidosis

ORPHA:100008

Amyloidosis

ORPHA:69

Primary systemic amyloidosis

Systemic AL amyloidosis

ORPHA:314701

Wild type ATTR amyloidosis

ATTRwt amyloidosis · ATTRwt-related amyloidosis

ORPHA:330001