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 ×

Dysbetalipoproteinemia

Remnant hyperlipoproteinemia · HLP type 3

ORPHA:412

ABri amyloidosis

Familial dementia, British type

ORPHA:97345

ADan amyloidosis

Familial dementia, Danish type

ORPHA:97346

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

ALSP · Autosomal dominant leukoencephalopathy with neuroaxonal spheroids

ORPHA:313808

Familial dysautonomia

HSAN3 · Hereditary sensory and autonomic neuropathy type 3

ORPHA:1764

Familial dysfibrinogenemia

ORPHA:98881

Familial hypocalciuric hypercalcemia type 3

FHH type 3

ORPHA:101050

Familial pseudohyperkalemia type 1

ORPHA:100039

PPARG-related familial partial lipodystrophy

FPLD3 · Familial partial lipodystrophy type 3

ORPHA:79083

Rare dyslipidemia

ORPHA:101953