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"

9 matching diseasesClear search ×

Gastroduodenal malformation

Malformation of the stomach and the duodenum

ORPHA:97944

Esophageal malformation

Malformation of the esophagus

ORPHA:88993

Hepatic arteriovenous malformation

Congenital hepatic arteriovenous malformation · HAVM

ORPHA:693846

Intestinal malformation

Malformation of the intestine

ORPHA:97945

Isolated duodenal duplication

Isolated duplication of the duodenum

ORPHA:662473

Malformation of the anal canal and the rectum

ORPHA:684757

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