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"

7 matching diseasesClear search ×

Hereditary ATTR amyloidosis

Familial TTR-related amyloidosis · Familial transthyretin-related amyloidosis

ORPHA:271861

ACys amyloidosis

CST3-related amyloidosis · Cystatin amyloidosis

ORPHA:100008

AGel amyloidosis

Familial amyloid polyneuropathy type IV · Familial amyloidosis, Finnish type

ORPHA:85448

Autosomal dominant Charcot-Marie-Tooth disease type 2V

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation · CMT2V

ORPHA:447964

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

Hereditary optic neuropathy

ORPHA:98671