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"

15 matching diseasesClear search ×

X-linked reticulate pigmentary disorder

Familial cutaneous amyloidosis · PDR

ORPHA:85453

AA amyloidosis

Inflammatory amyloidosis · Reactive amyloidosis

ORPHA:85445

AGel amyloidosis

Familial amyloid polyneuropathy type IV · Familial amyloidosis, Finnish type

ORPHA:85448

AH amyloidosis

Heavy chain amyloidosis

ORPHA:442582

AL amyloidosis

Light-chain amyloidosis

ORPHA:85443

ALys amyloidosis

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

ORPHA:93561

Amyloidosis

ORPHA:69

Familial cutaneous collagenoma

ORPHA:53296

Familial primary localized cutaneous amyloidosis

FPLCA

ORPHA:353220

Gelatinous drop-like corneal dystrophy

GDCD · Primary familial amyloidosis of the cornea

ORPHA:98957

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

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

ORPHA:523

Nodular cutaneous amyloidosis

PLCNA · Primary localized cutaneous nodular amyloidosis

ORPHA:137810

Primary cutaneous amyloidosis

PLCA · Primary localized cutaneous amyloidosis

ORPHA:137807