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"

24 matching diseasesClear search ×

Non-hereditary late-onset primary lymphedema

Meige-like disease

ORPHA:90185

Erythema palmare hereditarium

Lane disease · Red palms disease

ORPHA:231031

Erythroderma desquamativum

Leiner disease

ORPHA:314

Familial expansile osteolysis

Hereditary expansile polyostotic osteolytic dysplasia · McCabe disease

ORPHA:85195

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Cardiovascular Gaucher disease · Gaucher disease type 3C

ORPHA:2072

Huntington disease-like 1

Early-onset prion disease with prominent psychiatric features · HDL1

ORPHA:157941

Huntington disease-like 2

HDL2

ORPHA:98934

Huntington disease-like 3

HDL3

ORPHA:157946

Kyasanur forest disease

Kyasanur hemorrhagic fever · Monkey disease

ORPHA:319254

Lafora disease

EPM2 · PME type 2

ORPHA:501

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

ORPHA:506

Lipid storage disease

ORPHA:79204

Lyme disease

Lyme borreliosis

ORPHA:91546

Mal de Meleda

Meleda disease

ORPHA:87503

Medullar disease

ORPHA:102000

Meige disease

Hereditary lymphedema type II · Meige lymphedema

ORPHA:90186

Menkes disease

Menkes kinky hair disease · MD

ORPHA:565

Methionine adenosyltransferase I/III deficiency

MAT I/III deficiency · Mudd's disease

ORPHA:168598

Milroy disease

Hereditary lymphedema type I · Nonne-Milroy lymphedema

ORPHA:79452

Moyamoya disease

Idiopathic Moyamoya disease

ORPHA:2573

Occult macular dystrophy

OCMD · OMD

ORPHA:247834

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

ORPHA:534

Pelizaeus-Merzbacher-like disease

PMLD

ORPHA:280270

Von Hippel-Lindau disease

Familial cerebelloretinal angiomatosis · Lindau disease

ORPHA:892