Aagenaes syndrome

Term ID

DOID:6691

Synonyms

• Cholestasis-edema syndrome, Norwegian type

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. http://en.wikipedia.org/wiki/Aagenaes_syndrome

References

• GARD:370
• MESH:C535330
• NCI:C35709
• OMIM:214900
• ORDO:1414
• SNOMEDCT_US_2023_03_01:28724005
• UMLS_CUI:C0268314

Ontology

Human Disease   ( DOID:6691 )