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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:Cataracts, Ataxia, Short Stature, and Mental Retardation
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Accession:DOID:9008085 term browser browse the term
Synonyms:exact_synonym: CASM syndrome;   CATARACT, ATAXIA, SHORT STATURE, AND IMPAIRED INTELLECTUAL DEVELOPMENT;   cataract, ataxia, short stature, and mental retardation
 primary_id: MESH:C535345
 alt_id: OMIM:300619


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Neurodevelopmental Disorders 13563
        intellectual disability 7166
          Cataracts, Ataxia, Short Stature, and Mental Retardation 0
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            disease of mental health 17210
              developmental disorder of mental health 12014
                specific developmental disorder 7407
                  intellectual disability 7166
                    Cataracts, Ataxia, Short Stature, and Mental Retardation 0
paths to the root