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"

31 matching diseasesClear search ×

Splenic venous malformation

Splenic cavernous malformation · Splenic slow flow venous malformation

ORPHA:688523

Brain arteriovenous malformation

Cerebral arteriovenous malformation

ORPHA:46724

Congenital malformation of the eyelid

ORPHA:98561

Congenital pulmonary airway malformation

CCAM · CPAM

ORPHA:2444

Ebstein malformation of the tricuspid valve

Ebstein anomaly of the tricuspid valve

ORPHA:1880

Esophageal malformation

Malformation of the esophagus

ORPHA:88993

Fast-flow vascular malformation

Rare arteriovenous malformation

ORPHA:211266

Gastroduodenal malformation

Malformation of the stomach and the duodenum

ORPHA:97944

Gastrointestinal tract arteriovenous malformation

GI arteriovenous malformation · Angiodysplasia of the GI tract

ORPHA:693832

Genetic visceral malformation of the liver, biliary tract, pancreas or spleen

ORPHA:183548

Glomuvenous malformation

Glomangiomatosis · Hereditary multiple glomangiomas

ORPHA:83454

Hemi-myelomeningocele

Open split-cord malformation

ORPHA:645388

Hepatic arteriovenous malformation

Congenital hepatic arteriovenous malformation · HAVM

ORPHA:693846

Intestinal malformation

Malformation of the intestine

ORPHA:97945

Malformation of the anal canal and the rectum

ORPHA:684757

Mucocutaneous venous malformations

Cutaneous and mucosal venous malformation · VMCM

ORPHA:2451

OBSOLETE: Mandibular arteriovenous malformation

OBSOLETE: Arteriovenous malformation of mandible

ORPHA:141174

OBSOLETE: Maxillary arteriovenous malformation

OBSOLETE: Arteriovenous malformation of maxilla

ORPHA:141171

OBSOLETE: Syndromic malformation of the optic disc

ORPHA:519357

Pancreatic arteriovenous malformation

Arteriovenous malformation of the pancreas

ORPHA:693826

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

Split cord malformation type I

Diastematomyelia · SCM type I

ORPHA:1671

Thoracic malformation

ORPHA:182108

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

Visceral malformation of the liver, biliary tract, pancreas or spleen

ORPHA:98041