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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:Microcephaly Pontocerebellar Hypoplasia Dyskinesia
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Accession:DOID:9007384 term browser browse the term
Synonyms:primary_id: MESH:C537543



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      multiple system atrophy 41
        olivopontocerebellar atrophy 22
          Microcephaly Pontocerebellar Hypoplasia Dyskinesia 0
Path 2
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        genetic disease 17155
          monogenic disease 9978
            autosomal genetic disease 9202
              autosomal dominant disease 6055
                complex cortical dysplasia with other brain malformations 1564
                  Malformations of Cortical Development, Group I 1349
                    microcephaly 1110
                      Microcephaly Pontocerebellar Hypoplasia Dyskinesia 0
paths to the root