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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:Goniodysgenesis-Mental Retardation-Short Stature Syndrome
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Accession:DOID:9006312 term browser browse the term
Synonyms:exact_synonym: GMS Syndrome
 primary_id: MESH:C564214
 alt_id: OMIM:138770



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      Goniodysgenesis-Mental Retardation-Short Stature Syndrome 0
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            disease of mental health 8197
              developmental disorder of mental health 5587
                specific developmental disorder 4534
                  intellectual disability 4335
                    Goniodysgenesis-Mental Retardation-Short Stature Syndrome 0
paths to the root