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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:Aortic Arch Anomaly with Peculiar Facies and Mental Retardation
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Accession:DOID:9006247 term browser browse the term
Synonyms:primary_id: MESH:C537785
 alt_id: OMIM:107500


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16378
      Neurodevelopmental Disorders 6276
        intellectual disability 3986
          Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 0
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14107
      nervous system disease 12321
        central nervous system disease 11034
          brain disease 10356
            disease of mental health 7436
              developmental disorder of mental health 5048
                specific developmental disorder 4167
                  intellectual disability 3986
                    Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 0
paths to the root