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Disease Ontology Browser
Aagenaes syndrome (DOID:6691)
Alliance: disease page
Synonyms: Cholestasis-edema syndrome, Norwegian type
Alt IDs: OMIM:214900, MESH:C535330, NCI:C35709, ORDO:1414, UMLS_CUI:C0268314
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory