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"

21 matching diseasesClear search ×

AGel amyloidosis

Familial amyloid polyneuropathy type IV · Familial amyloidosis, Finnish type

ORPHA:85448

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

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

ALys amyloidosis

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

ORPHA:93561

ATTRV30M amyloidosis

ATTRV30M-related amyloidosis · Hereditary ATTRV30M-related amyloidosis

ORPHA:85447

F12-related hereditary angioedema with normal C1Inh

F12-related HAE with normal C1 inhibitor · HAE

ORPHA:100054

Hereditary amyloidosis

ORPHA:444116

Hereditary amyloidosis with primary renal involvement

Amyloidosis, Ostertag type · Familial amyloid nephropathy

ORPHA:85450

Hereditary angioedema type 1

HAE · HAE 1

ORPHA:100050

Hereditary angioedema type 2

HAE · HAE 2

ORPHA:100051

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

Hereditary cryohydrocytosis with reduced stomatin

CHC type 2 · Hereditary cryohydrocytosis type 2

ORPHA:168577

TFR2-related hemochromatosis

Hereditary hemochromatosis type 3

ORPHA:225123

Wild type ABeta2M amyloidosis

ABeta2Mwt amyloidosis · Dialysis-related amyloidosis

ORPHA:85446

Wild type ATTR amyloidosis

ATTRwt amyloidosis · ATTRwt-related amyloidosis

ORPHA:330001