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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:Achard syndrome
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Accession:DOID:6686 term browser browse the term
Definition:A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet. (DO)
Synonyms:exact_synonym: arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet;   dysostoses and increased ligament laxity
 primary_id: MESH:C536012
 alt_id: OMIM:100700
 xref: GARD:8176;   NCI:C35809
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 18256
    syndrome 9802
      Achard syndrome 0
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      Skin and Connective Tissue Diseases 6841
        connective tissue disease 5160
          bone disease 3834
            bone inflammation disease 1338
              arthropathy 1321
                Joint Instability 46
                  Achard syndrome 0
paths to the root