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Aagenaes syndrome
Disease Summary
Associated Targets ()
Mondo Description Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:6691
GARD:0000370
MESH:C535330
NCIT:C35709
OMIM:214900
Orphanet:1414
SCTID:28724005
UMLS:C0268314
MONDO:0008966
High level summary of knowledge for a disease, including descriptions and datasource references.