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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 19143
    syndrome 11406
      Worster-Drought Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      nervous system disease 14362
        central nervous system disease 12645
          brain disease 11865
            disease of mental health 8477
              developmental disorder of mental health 5660
                specific developmental disorder 4628
                  communication disorder 421
                    language disorder 173
                      speech disorder 87
                        articulation disorder 24
                          Dysarthria 19
                            Worster-Drought Syndrome 1
paths to the root