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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:Schimke X-Linked Mental Retardation Syndrome
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Accession:DOID:9006891 term browser browse the term
Synonyms:exact_synonym: Childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness;   Choreoathetosis with X-linked mental retardation;   Progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness
 primary_id: MESH:C536630
 alt_id: OMIM:312840


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10886
      Schimke X-Linked Mental Retardation Syndrome 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        central nervous system disease 12429
          brain disease 11667
            disease of mental health 8318
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  intellectual disability 4301
                    syndromic intellectual disability 757
                      syndromic X-linked intellectual disability 618
                        Schimke X-Linked Mental Retardation Syndrome 0
paths to the root