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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:Kuzniecky Andermann Syndrome
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Accession:DOID:9004606 term browser browse the term
Synonyms:exact_synonym: macrogyria, pseudobulbar palsy and mental retardation
 primary_id: MESH:C537722

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14090
    syndrome 9294
      Kuzniecky Andermann Syndrome 0
Path 2
Term Annotations click to browse term
  disease 14090
    disease of anatomical entity 13755
      nervous system disease 12032
        central nervous system disease 10811
          brain disease 10142
            disease of mental health 7272
              developmental disorder of mental health 4947
                specific developmental disorder 4082
                  intellectual disability 3898
                    Kuzniecky Andermann Syndrome 0
paths to the root