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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 18976
    syndrome 10887
      Achard syndrome 0
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Skin and Connective Tissue Diseases 7520
        connective tissue disease 5786
          bone disease 4302
            bone inflammation disease 1494
              arthropathy 1473
                Joint Instability 48
                  Achard syndrome 0
paths to the root