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"

31 matching diseasesClear search ×

ACys amyloidosis

CST3-related amyloidosis · Cystatin amyloidosis

ORPHA:100008

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

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

ABeta amyloidosis, Arctic type

ABetaE22G amyloidosis · HCHWA, Arctic type

ORPHA:324723

ABeta amyloidosis, Dutch type

HCHWA, Dutch type · HCHWA-D

ORPHA:100006

ABeta amyloidosis, Iowa type

ABetaD23N amyloidosis · HCHWA, Iowa type

ORPHA:324708

ABeta amyloidosis, Italian type

ABetaE22K amyloidosis · HCHWA, Italian type

ORPHA:324713

ABeta2M amyloidosis

Beta2-microglobulinic amyloidosis

ORPHA:439246

ABetaA21G amyloidosis

ABetaA21G-related amyloidosis · HCHWA, Flemish type

ORPHA:324718

ABetaL34V amyloidosis

ABetaL34V-related amyloidosis · HCHWA, Piedmont type

ORPHA:324703

ABri amyloidosis

Familial dementia, British type

ORPHA:97345

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

ALECT2 amyloidosis

Leukocyte chemotactic factor-2 amyloidosis

ORPHA:439224

ALys amyloidosis

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

ORPHA:93561

Amyloidosis

ORPHA:69

ATTRV122I amyloidosis

ATTRV122I-related amyloidosis

ORPHA:85451

ATTRV30M amyloidosis

ATTRV30M-related amyloidosis · Hereditary ATTRV30M-related amyloidosis

ORPHA:85447

Hereditary amyloidosis with primary renal involvement

Amyloidosis, Ostertag type · Familial amyloid nephropathy

ORPHA:85450

Hereditary ATTR amyloidosis

Familial TTR-related amyloidosis · Familial transthyretin-related amyloidosis

ORPHA:271861

ITM2B amyloidosis

ITM2B-related amyloidosis · ITM2B-related cerebral amyloid angiopathy

ORPHA:439254

Lichen amyloidosis

Amyloid lichen · Lichen amyloidosus

ORPHA:49804

Macular amyloidosis

ORPHA:137814

Primary localized amyloidosis

Localized AL amyloidosis

ORPHA:314709

Wild type ABeta2M amyloidosis

ABeta2Mwt amyloidosis · Dialysis-related amyloidosis

ORPHA:85446

Wild type ATTR amyloidosis

ATTRwt amyloidosis · ATTRwt-related amyloidosis

ORPHA:330001