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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:Saal Bulas Syndrome
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Accession:DOID:9005949 term browser browse the term
Synonyms:exact_synonym: Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum
 primary_id: MESH:C537193;   RDO:0002982
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 17147
    syndrome 8040
      Saal Bulas Syndrome 0
Path 2
Term Annotations click to browse term
  disease 17147
    disease of anatomical entity 16492
      nervous system disease 12092
        peripheral nervous system disease 2527
          neuropathy 2325
            neuromuscular disease 1832
              muscular disease 1231
                diaphragm disease 112
                  Diaphragmatic Hernia 111
                    congenital diaphragmatic hernia 58
                      Saal Bulas Syndrome 0
paths to the root