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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:VISSERS-BODMER SYNDROME
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Accession:DOID:9004008 term browser browse the term
Definition:A disease characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy.
Synonyms:exact_synonym: VIBOS
 pimary_id: OMIM:619033
For additional species annotation, visit the Alliance of Genome Resources.


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VISSERS-BODMER SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnot1 CCR4-NOT transcription complex, subunit 1 ISO ClinVar Annotator: match by term: VISSERS-BODMER SYNDROME ClinVar
OMIM
PMID:25741868 PMID:32553196 NCBI chr19:9,668,186...9,761,605
Ensembl chr19:9,668,186...9,761,605
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Neurodevelopmental Disorders 5572
        intellectual disability 3388
          VISSERS-BODMER SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              developmental disorder of mental health 4277
                specific developmental disorder 3535
                  communication disorder 240
                    language disorder 141
                      speech disorder 66
                        VISSERS-BODMER SYNDROME 1
paths to the root