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 ×

Microcystic lymphatic malformation

Capillary lymphangioma · Capillary lymphatic malformation

ORPHA:79490

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

Cerebellar malformation

ORPHA:182061

Common cystic lymphatic malformation

ORPHA:458833

Cranial malformation

ORPHA:98038

Diffuse lymphatic malformation

Diffuse lymphangioma · Diffuse lymphangiomatosis

ORPHA:141209

Genetic cardiac malformation

ORPHA:477805

Genetic cerebellar malformation

ORPHA:269560

Genetic cranial malformation

ORPHA:183542

Isolated rare lymphatic malformation

LM · Lymphangioma

ORPHA:2415

Macrocystic lymphatic malformation

Cavernous lymphangioma · Cavernous lymphatic malformation

ORPHA:79489

Megalencephaly-capillary malformation-polymicrogyria syndrome

MCAP · MCM

ORPHA:60040

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

ORPHA:294016

Mixed cystic lymphatic malformation

Mixed cystic lymphangioma

ORPHA:458792

OBSOLETE: Cervicofacial lymphatic malformation

ORPHA:137923

OBSOLETE: Circumscribed lymphatic malformation

OBSOLETE: Circumscribed lymphangioma

ORPHA:217410

Rare capillary malformation

ORPHA:211247

Rare capillary malformation with associated anomalies

ORPHA:458830

Rare genetic capillary malformation

ORPHA:459526

Retinal capillary malformation

Retinal cavernous hemangioma

ORPHA:71213

Slow-flow malformation, lymphatic type

ORPHA:211255

Thoracic malformation

ORPHA:182108