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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 Seizures Mental Retardation Heart Disorders
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Accession:DOID:9002664 term browser browse the term
Synonyms:exact_synonym: Microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities
 primary_id: MESH:C537544

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14336
    physical disorder 4836
      congenital heart disease 1330
        Microcephaly Seizures Mental Retardation Heart Disorders 0
Path 2
Term Annotations click to browse term
  disease 14336
    Developmental Disease 12608
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11871
        genetic disease 11599
          monogenic disease 9961
            autosomal genetic disease 9565
              autosomal dominant disease 6245
                complex cortical dysplasia with other brain malformations 1578
                  Malformations of Cortical Development, Group I 1346
                    microcephaly 1110
                      Microcephaly Seizures Mental Retardation Heart Disorders 0
paths to the root