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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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
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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.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18203
    syndrome 9805
      Aagenaes syndrome 0
Path 2
Term Annotations click to browse term
  disease 18203
    disease of anatomical entity 17561
      gastrointestinal system disease 6656
        hepatobiliary disease 2812
          biliary tract disease 523
            bile duct disease 479
              cholestasis 331
                Aagenaes syndrome 0
paths to the root