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"

38 matching diseasesClear search ×

Brain arteriovenous malformation

Cerebral arteriovenous malformation

ORPHA:46724

Capillary malformation-arteriovenous malformation

CM-AVM

ORPHA:137667

Central nervous system malformation

ORPHA:98044

Cerebellar malformation

ORPHA:182061

Cerebral malformation with epilepsy

ORPHA:166478

Cerebral proliferative angiopathy

CPA · Holohemispheric giant cerebral arteriovenous malformation

ORPHA:692271

Cerebrofacial arteriovenous metameric syndrome

CAMS

ORPHA:141189

Coronary artery congenital malformation

ORPHA:1081

Cranial malformation

ORPHA:98038

Dural sinus malformation with arteriovenous shunt

Cranial dural arteriovenous fistula · Dural sinus malformation with arteriovenous fistulae

ORPHA:97339

Familial cerebral cavernous malformation

Familial brain cavernous angioma · Familial cerebral cavernoma

ORPHA:221061

Fast-flow vascular malformation

Rare arteriovenous malformation

ORPHA:211266

Gastrointestinal tract arteriovenous malformation

GI arteriovenous malformation · Angiodysplasia of the GI tract

ORPHA:693832

Genetic cerebellar malformation

ORPHA:269560

Genetic cerebral malformation

Genetic brain malformation

ORPHA:269553

Global cerebellar malformation

Diffuse cerebellar malformation

ORPHA:269224

Glomuvenous malformation

Glomangiomatosis · Hereditary multiple glomangiomas

ORPHA:83454

Hepatic arteriovenous malformation

Congenital hepatic arteriovenous malformation · HAVM

ORPHA:693846

Midline cerebral malformation

Midline brain malformation

ORPHA:268926

Mucocutaneous venous malformations

Cutaneous and mucosal venous malformation · VMCM

ORPHA:2451

Non-syndromic cerebral malformation

Non-syndromic brain malformation

ORPHA:199633

OBSOLETE: Facial arteriovenous malformation

ORPHA:156230

OBSOLETE: Frontonasal arteriovenous malformation

ORPHA:141168

OBSOLETE: Mandibular arteriovenous malformation

OBSOLETE: Arteriovenous malformation of mandible

ORPHA:141174

OBSOLETE: Maxillary arteriovenous malformation

OBSOLETE: Arteriovenous malformation of maxilla

ORPHA:141171

Pancreatic arteriovenous malformation

Arteriovenous malformation of the pancreas

ORPHA:693826

Peripheral arteriovenous malformation

Peripheral AVM

ORPHA:708046

Peripheral fast-flow vascular malformation

Peripheral arteriovenous malformation

ORPHA:707944

Pulmonary arteriovenous malformation

PAVM

ORPHA:2038

Rare genetic venous malformation

ORPHA:459548

Renal arteriovenous malformation

rAVM · Arteriovenous malformation of the kidney

ORPHA:693839

Segmental venous malformation

Bockenheimer syndrome · Genuine diffuse phlebectasia

ORPHA:217008

Slow-flow malformation, venous type

Rare venous malformation

ORPHA:211252

Splenic arteriovenous malformation

Arteriovenous malformation of the spleen

ORPHA:693863

Splenic venous malformation

Splenic cavernous malformation · Splenic slow flow venous malformation

ORPHA:688523

Uterine arteriovenous malformation

UAVM · Arteriovenous malformation of the uterus

ORPHA:693815

Vein of Galen malformation

Vein of Galen arteriovenous malformations · VOGM

ORPHA:1053

Visceral arteriovenous malformation

Arteriovenous malformation of internal organs

ORPHA:693855