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"

12 matching diseasesClear search ×

Hereditary ATTR amyloidosis

Familial TTR-related amyloidosis · Familial transthyretin-related amyloidosis

ORPHA:271861

ABetaA21G amyloidosis

ABetaA21G-related amyloidosis · HCHWA, Flemish type

ORPHA:324718

ABetaL34V amyloidosis

ABetaL34V-related amyloidosis · HCHWA, Piedmont type

ORPHA:324703

ACys amyloidosis

CST3-related amyloidosis · Cystatin amyloidosis

ORPHA:100008

AGel amyloidosis

Familial amyloid polyneuropathy type IV · Familial amyloidosis, Finnish type

ORPHA:85448

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

ITM2B amyloidosis

ITM2B-related amyloidosis · ITM2B-related cerebral amyloid angiopathy

ORPHA:439254

Wild type ABeta2M amyloidosis

ABeta2Mwt amyloidosis · Dialysis-related amyloidosis

ORPHA:85446

Wild type ATTR amyloidosis

ATTRwt amyloidosis · ATTRwt-related amyloidosis

ORPHA:330001

X-linked reticulate pigmentary disorder

Familial cutaneous amyloidosis · PDR

ORPHA:85453