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"

25 matching diseasesClear search ×

Intestinal malformation

Malformation of the intestine

ORPHA:97945

Adenocarcinoma of the small intestine

Adenocarcinoma of the small bowel

ORPHA:104075

Aortic malformation

ORPHA:98718

Arnold-Chiari malformation type I

Arnold-Chiari malformation type 1 · Chiari malformation type 1

ORPHA:268882

Congenital malformation of the eyelid

ORPHA:98561

Digestive tract malformation

ORPHA:98039

Ebstein malformation of the tricuspid valve

Ebstein anomaly of the tricuspid valve

ORPHA:1880

Esophageal malformation

Malformation of the esophagus

ORPHA:88993

Gastroduodenal malformation

Malformation of the stomach and the duodenum

ORPHA:97944

Hepatic arteriovenous malformation

Congenital hepatic arteriovenous malformation · HAVM

ORPHA:693846

Malformation of the anal canal and the rectum

ORPHA:684757

Midline cerebral malformation

Midline brain malformation

ORPHA:268926

Neuroendocrine tumor of the small intestine

NET of the small intestine · Neuroendocrine neoplasm of the small intestine

ORPHA:423975

Non-syndromic intestinal malformation

ORPHA:108967

OBSOLETE: Syndromic malformation of the optic disc

ORPHA:519357

Pancreatic arteriovenous malformation

Arteriovenous malformation of the pancreas

ORPHA:693826

Rare tumor of intestine

Rare intestinal tumor · Rare tumor of bowel

ORPHA:104011

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 intestinal malformation

ORPHA:108969

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