FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Aagenaes syndrome ID (Ontology) DOID:6691 (Human Disease)
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.
Also Known As "Cholestasis-edema syndrome, Norwegian type"
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Synonyms
  • "Cholestasis-edema syndrome, Norwegian type" EXACT
Secondary IDs
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GARD:370
MESH:C535330
MIM:214900
NCI:C35709
ORDO:1414
SNOMEDCT_US_2023_03_01:28724005
UMLS_CUI:C0268314