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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: OMIM:185480
For additional species annotation, visit the Alliance of Genome Resources.


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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 null ClinVar PMID:24375697 NCBI chr15:109,338,762...109,394,905
Ensembl chr15:109,339,564...109,394,927
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      Worster-Drought Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        central nervous system disease 9050
          brain disease 8375
            disease of mental health 6052
              developmental disorder of mental health 3165
                specific developmental disorder 2344
                  communication disorder 295
                    language disorder 207
                      speech disorder 75
                        articulation disorder 33
                          Dysarthria 29
                            Worster-Drought Syndrome 1
paths to the root