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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:Cartilage Hair Hypoplasia Like Syndrome
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Accession:DOID:9004809 term browser browse the term
Synonyms:primary_id: MESH:C535915;   RDO:0001283
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 17251
    syndrome 8148
      Cartilage Hair Hypoplasia Like Syndrome 0
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      gastrointestinal system disease 6067
        Gastrointestinal Diseases 4152
          intestinal disease 2453
            colonic disease 1879
              megacolon 225
                Hirschsprung's disease 225
                  Cartilage Hair Hypoplasia Like Syndrome 0
paths to the root