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"

16 matching diseasesClear search ×

AApoAII amyloidosis

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

ORPHA:238269

AA amyloidosis

Inflammatory amyloidosis · Reactive amyloidosis

ORPHA:85445

AApoAI amyloidosis

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

ORPHA:93560

AApoAIV amyloidosis

Apolipoprotein A-IV amyloidosis

ORPHA:439232

ABri amyloidosis

Familial dementia, British type

ORPHA:97345

ACys amyloidosis

CST3-related amyloidosis · Cystatin amyloidosis

ORPHA:100008

ADan amyloidosis

Familial dementia, Danish type

ORPHA:97346

AFib amyloidosis

Familial amyloid nephropathy due to fibrinogen A alpha-chain variant · Fibrinogen A alpha-chain amyloidosis

ORPHA:93562

AGel amyloidosis

Familial amyloid polyneuropathy type IV · Familial amyloidosis, Finnish type

ORPHA:85448

AH amyloidosis

Heavy chain amyloidosis

ORPHA:442582

AL amyloidosis

Light-chain amyloidosis

ORPHA:85443

ALys amyloidosis

Familial amyloid nephropathy due to lysozyme variant · Familial renal amyloidosis due to lysozyme variant

ORPHA:93561

Amyloidosis

ORPHA:69

Apolipoprotein A-I deficiency

ApoA-I deficiency · Familial apoA-I deficiency

ORPHA:425

ITM2B amyloidosis

ITM2B-related amyloidosis · ITM2B-related cerebral amyloid angiopathy

ORPHA:439254

PrP systemic amyloidosis

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

ORPHA:397606