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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:Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
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Accession:DOID:9004772 term browser browse the term
Synonyms:primary_id: MESH:C563342
 alt_id: OMIM:601352


show annotations for term's descendants           Sort by:
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    physical disorder 5001
      congenital nervous system abnormality 1500
        microcephaly 1131
          Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 0
Path 2
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17782
        genetic disease 17756
          monogenic disease 10362
            autosomal genetic disease 9535
              autosomal dominant disease 6266
                complex cortical dysplasia with other brain malformations 1600
                  Malformations of Cortical Development, Group I 1382
                    microcephaly 1131
                      Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 0
paths to the root