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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:Worster-Drought Syndrome
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Accession:DOID:9007853 term browser browse the term
Synonyms:exact_synonym: Congenital suprabulbar paresis
 primary_id: MESH:C536747
 alt_id: MIM:185480


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Worster-Drought Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Worster-Drought syndrome ClinVar PMID:24375697 NCBI chr15:100,000,157...100,056,573
Ensembl chr15:100,000,152...100,056,543 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    syndrome 11171
      Worster-Drought Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      nervous system disease 14221
        central nervous system disease 12556
          brain disease 11776
            disease of mental health 8368
              developmental disorder of mental health 5596
                specific developmental disorder 4595
                  communication disorder 413
                    language disorder 166
                      speech disorder 84
                        articulation disorder 21
                          Dysarthria 16
                            Worster-Drought Syndrome 1
paths to the root