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"

23 matching diseasesClear search ×

Macrocystic lymphatic malformation

Cavernous lymphangioma · Cavernous lymphatic malformation

ORPHA:79489

Aortic malformation

ORPHA:98718

Capillary malformation-arteriovenous malformation

CM-AVM

ORPHA:137667

Capillary-lymphatic-venous malformation with segmental distribution

CLVM with segmental distribution · Klippel-Trénaunay syndrome

ORPHA:90308

Common cystic lymphatic malformation

ORPHA:458833

Cranial malformation

ORPHA:98038

Diffuse lymphatic malformation

Diffuse lymphangioma · Diffuse lymphangiomatosis

ORPHA:141209

Familial cerebral cavernous malformation

Familial brain cavernous angioma · Familial cerebral cavernoma

ORPHA:221061

Genetic cardiac malformation

ORPHA:477805

Genetic cranial malformation

ORPHA:183542

Glomuvenous malformation

Glomangiomatosis · Hereditary multiple glomangiomas

ORPHA:83454

Hepatic arteriovenous malformation

Congenital hepatic arteriovenous malformation · HAVM

ORPHA:693846

Isolated rare lymphatic malformation

LM · Lymphangioma

ORPHA:2415

Microcystic lymphatic malformation

Capillary lymphangioma · Capillary lymphatic malformation

ORPHA:79490

Mixed cystic lymphatic malformation

Mixed cystic lymphangioma

ORPHA:458792

OBSOLETE: Cervicofacial lymphatic malformation

ORPHA:137923

OBSOLETE: Circumscribed lymphatic malformation

OBSOLETE: Circumscribed lymphangioma

ORPHA:217410

Pancreatic arteriovenous malformation

Arteriovenous malformation of the pancreas

ORPHA:693826

Rare genetic venous malformation

ORPHA:459548

Slow-flow malformation, lymphatic type

ORPHA:211255

Slow-flow malformation, venous type

Rare venous malformation

ORPHA:211252

Splenic venous malformation

Splenic cavernous malformation · Splenic slow flow venous malformation

ORPHA:688523

Thoracic malformation

ORPHA:182108