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"

10 matching diseasesClear search ×

Gelatinous drop-like corneal dystrophy

GDCD · Primary familial amyloidosis of the cornea

ORPHA:98957

AGel amyloidosis

Familial amyloid polyneuropathy type IV · Familial amyloidosis, Finnish type

ORPHA:85448

Distal renal tubular acidosis

Classic RTA · Familial distal primary acidosis

ORPHA:18

Familial primary localized cutaneous amyloidosis

FPLCA

ORPHA:353220

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

Primary cutaneous amyloidosis

PLCA · Primary localized cutaneous amyloidosis

ORPHA:137807

Primary localized amyloidosis

Localized AL amyloidosis

ORPHA:314709

Primary systemic amyloidosis

Systemic AL amyloidosis

ORPHA:314701

X-linked reticulate pigmentary disorder

Familial cutaneous amyloidosis · PDR

ORPHA:85453