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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:Microphthalmia and Mental Deficiency
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Accession:DOID:9005173 term browser browse the term
Synonyms:exact_synonym: Pinsky DiGeorge Harley syndrome;   colobomatous microphthalmia;   microphthalmos, severe mental retardation, and spastic cerebral palsy
 primary_id: MESH:C537462

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Neurodevelopmental Disorders 6302
        intellectual disability 4008
          Microphthalmia and Mental Deficiency 0
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9607
            autosomal genetic disease 8891
              autosomal dominant disease 5828
                complex cortical dysplasia with other brain malformations 1547
                  Malformations of Cortical Development, Group I 1335
                    microcephaly 1105
                      Microphthalmia and Mental Deficiency 0
paths to the root