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"

9 matching diseasesClear search ×

ALys amyloidosis

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

ORPHA:93561

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

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

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

Variant ABeta2M amyloidosis

Autosomal dominant beta2-microglobulinic amyloidosis

ORPHA:314652

X-linked reticulate pigmentary disorder

Familial cutaneous amyloidosis · PDR

ORPHA:85453