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 ×

ABeta amyloidosis, Italian type

ABetaE22K amyloidosis · HCHWA, Italian type

ORPHA:324713

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

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

Hereditary amyloidosis

ORPHA:444116

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

Hereditary cerebral amyloid angiopathy

HCHWA · Hereditary cerebral hemorrhage with amyloidosis

ORPHA:85458