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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: MIM:214900
 xref: GARD:370;   NCI:C35709;   ORDO:1414
For additional species annotation, visit the Alliance of Genome Resources.


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Aagenaes syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Cholestasis-edema syndrome, Norwegian type ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:134,281,930...134,296,661
Ensembl chr 1:134,281,933...134,301,586 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    syndrome 11180
      Aagenaes syndrome 1
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      gastrointestinal system disease 7174
        hepatobiliary disease 3115
          biliary tract disease 540
            bile duct disease 496
              cholestasis 343
                Aagenaes syndrome 1
paths to the root