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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:Lymphedema, Cardiac Septal Defects, and Characteristic Facies
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Accession:DOID:9005823 term browser browse the term
Synonyms:exact_synonym: Autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes;   Irons-Bhan Syndrome;   Irons-Bianchi syndrome;   Lymphedema, atrial septal defect, and characteristic facial changes;   lymphedema, atrial septal defect, and characteristic facies
 alt_id: DOID:9002392
 xref: GARD:284;   MESH:C535539;   MESH:C567398;   MIM:601927;   MONDO:0011166;   ORDO:86915

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14226
    syndrome 9749
      Lymphedema, Cardiac Septal Defects, and Characteristic Facies 0
Path 2
Term Annotations click to browse term
  disease 14226
    disease of anatomical entity 13929
      respiratory system disease 4532
        thoracic disease 3503
          heart disease 2994
            congenital heart disease 1324
              heart septal defect 206
                atrial heart septal defect 118
                  Lymphedema, Cardiac Septal Defects, and Characteristic Facies 0
paths to the root