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"

22 matching diseasesClear search ×

Esophageal malformation

Malformation of the esophagus

ORPHA:88993

Aortic malformation

ORPHA:98718

Congenital malformation of the eyelid

ORPHA:98561

Duplication of the esophagus

ORPHA:91357

Ebstein malformation of the tricuspid valve

Ebstein anomaly of the tricuspid valve

ORPHA:1880

Gastroduodenal malformation

Malformation of the stomach and the duodenum

ORPHA:97944

Genetic syndromic esophageal malformation

ORPHA:371445

Hepatic arteriovenous malformation

Congenital hepatic arteriovenous malformation · HAVM

ORPHA:693846

Intestinal malformation

Malformation of the intestine

ORPHA:97945

Isolated tubular duplication of the esophagus

ORPHA:100048

Malformation of the anal canal and the rectum

ORPHA:684757

Neuroendocrine neoplasm of esophagus

Esophageal NEN · Esophageal neuroendocrine neoplasm

ORPHA:506136

Non-syndromic esophageal malformation

ORPHA:108959

OBSOLETE: Syndromic malformation of the optic disc

ORPHA:519357

Pancreatic arteriovenous malformation

Arteriovenous malformation of the pancreas

ORPHA:693826

Renal arteriovenous malformation

rAVM · Arteriovenous malformation of the kidney

ORPHA:693839

Splenic arteriovenous malformation

Arteriovenous malformation of the spleen

ORPHA:693863

Splenic venous malformation

Splenic cavernous malformation · Splenic slow flow venous malformation

ORPHA:688523

Syndromic esophageal malformation

ORPHA:108961

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