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 ×

ITM2B amyloidosis

ITM2B-related amyloidosis · ITM2B-related cerebral amyloid angiopathy

ORPHA:439254

ACys amyloidosis

CST3-related amyloidosis · Cystatin amyloidosis

ORPHA:100008

AGel amyloidosis

Familial amyloid polyneuropathy type IV · Familial amyloidosis, Finnish type

ORPHA:85448

Cerebral proliferative angiopathy

CPA · Holohemispheric giant cerebral arteriovenous malformation

ORPHA:692271

COL4A1 or COL4A2-related cerebral small vessel disease

COL4A1 or COL4A2-related cerebral angiopathy

ORPHA:477759

Familial cerebral cavernous malformation

Familial brain cavernous angioma · Familial cerebral cavernoma

ORPHA:221061

Familial cerebral saccular aneurysm

Familial berry aneurysm · Familial intracranial saccular aneurysm

ORPHA:231160

Familial visceral myopathy

Familial hollow visceral myopathy · Hereditary hollow visceral myopathy

ORPHA:2604

Hereditary amyloidosis with primary renal involvement

Amyloidosis, Ostertag type · Familial amyloid nephropathy

ORPHA:85450

Hereditary cerebral amyloid angiopathy

HCHWA · Hereditary cerebral hemorrhage with amyloidosis

ORPHA:85458

HTRA1-related cerebral small vessel disease

HTRA1-related cerebral angiopathy

ORPHA:482072

Von Hippel-Lindau disease

Familial cerebelloretinal angiomatosis · Lindau disease

ORPHA:892