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"

43 matching diseasesClear search ×

Hepatic arteriovenous malformation

Congenital hepatic arteriovenous malformation · HAVM

ORPHA:693846

Brain arteriovenous malformation

Cerebral arteriovenous malformation

ORPHA:46724

Capillary malformation-arteriovenous malformation

CM-AVM

ORPHA:137667

Cerebral proliferative angiopathy

CPA · Holohemispheric giant cerebral arteriovenous malformation

ORPHA:692271

Congenital anomaly of hepatic vein

ORPHA:95507

Congenital limb malformation

ORPHA:68378

Congenital malformation of the eyelid

ORPHA:98561

Congenital mitral malformation

ORPHA:2447

Congenital pulmonary airway malformation

CCAM · CPAM

ORPHA:2444

Congenital pulmonary airway malformation type 0

CPAM type 0 · Congenital cystic adenomatoid malformation of the lung type 0

ORPHA:280827

Congenital pulmonary airway malformation type 1

CCAM type 1 · CPAM type 1

ORPHA:280832

Congenital pulmonary airway malformation type 2

CCAM type 2 · CPAM type 2

ORPHA:280840

Congenital pulmonary airway malformation type 3

CCAM type 3 · CPAM type 3

ORPHA:280847

Congenital pulmonary airway malformation type 4

CPAM type 4 · Congenital cystic adenomatoid malformation of the lung type 4

ORPHA:280854

Congenital retinal arteriovenous communication

Congenital arteriovenous anastomoses of the retina · Congenital arteriovenous communication of the retina

ORPHA:353334

Congenital thyroid malformation without hypothyroidism

ORPHA:95718

Congenital tricuspid malformation

ORPHA:98721

Coronary artery congenital malformation

ORPHA:1081

Dural sinus malformation with arteriovenous shunt

Cranial dural arteriovenous fistula · Dural sinus malformation with arteriovenous fistulae

ORPHA:97339

Fast-flow vascular malformation

Rare arteriovenous malformation

ORPHA:211266

Gastrointestinal tract arteriovenous malformation

GI arteriovenous malformation · Angiodysplasia of the GI tract

ORPHA:693832

Genetic congenital limb malformation

ORPHA:183536

Isolated congenital auditory ossicle malformation

Congenital auditory ossicle malformation without external ear abnormality

ORPHA:162526

OBSOLETE: Congenital arteriovenous fistula

ORPHA:98731

OBSOLETE: Congenital systemic arteriovenous fistula

ORPHA:2039

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 congenital arteriovenous fistula

Peripheral congenital AVF

ORPHA:708051

Peripheral fast-flow vascular malformation

Peripheral arteriovenous malformation

ORPHA:707944

Pulmonary arteriovenous malformation

PAVM

ORPHA:2038

Rare congenital non-syndromic heart malformation

ORPHA:88991

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

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