Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   


RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Aagenaes syndrome
go back to main search page
Accession:DOID:6691 term browser browse the term
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. (DO)
Synonyms:exact_synonym: CHLS;   Cholestasis lymphedema syndrome;   LCS;   LCS1;   cholestasis-edema syndrome, Norwegian type
 primary_id: MESH:C535330
 alt_id: OMIM:214900
 xref: GARD:370;   NCI:C35709;   ORDO:1414
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    syndrome 10749
      Aagenaes syndrome 0
Path 2
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      gastrointestinal system disease 7003
        hepatobiliary disease 3035
          biliary tract disease 538
            bile duct disease 494
              cholestasis 340
                Aagenaes syndrome 0
paths to the root