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"

8 matching diseasesClear search ×

ACys amyloidosis

CST3-related amyloidosis · Cystatin amyloidosis

ORPHA:100008

Hereditary amyloidosis

ORPHA:444116

Hereditary amyloidosis with primary renal involvement

Amyloidosis, Ostertag type · Familial amyloid nephropathy

ORPHA:85450

Hereditary angioedema

Familial angioneurotic edema · HAE

ORPHA:91378

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

ITM2B amyloidosis

ITM2B-related amyloidosis · ITM2B-related cerebral amyloid angiopathy

ORPHA:439254

Neuroferritinopathy

Adult basal ganglia disease · Ferritin-related neurodegeneration

ORPHA:157846