Summary Literature (0)

DOID:6691 - Aagenaes syndrome

Disease Ontology Definition:A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts.

Synonyms: Cholestasis-edema syndrome, Norwegian type, Cholestasis-edema syndrome, Norwegian type (disorder)

Xenbase Genes :

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008966 - Aagenaes syndrome

MIM:

MIM:214900 - CHOLESTASIS-LYMPHEDEMA SYNDROME

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee