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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


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18075
      Saal Bulas Syndrome 0
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        peripheral nervous system disease 5382
          neuropathy 5129
            neuromuscular disease 4041
              muscular disease 2807
                diaphragm disease 135
                  Diaphragmatic Hernia 134
                    congenital diaphragmatic hernia 68
                      Saal Bulas Syndrome 0
paths to the root