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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:Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly
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Accession:DOID:9001877 term browser browse the term
Synonyms:primary_id: MESH:C565032
 alt_id: MIM:133750


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    physical disorder 5180
      congenital nervous system abnormality 1530
        microcephaly 1142
          Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 0
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          monogenic disease 10822
            autosomal genetic disease 10303
              autosomal dominant disease 6647
                complex cortical dysplasia with other brain malformations 1633
                  Malformations of Cortical Development, Group I 1393
                    microcephaly 1142
                      Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 0
paths to the root