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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:mutism
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Accession:DOID:4189 term browser browse the term
Definition:A speech disorder that involves a complete inability to speak. (DO)
Synonyms:exact_synonym: Conversion Mutism;   Elective Mutism;   Elective Mutisms;   Kussmaul Aphasia;   Kussmaul's Aphasia;   Kussmauls Aphasia;   Mutisms;   Organic Mutism;   Organic Mutisms;   Selective Mutism;   Voluntary Mutism;   conversion mutisms;   voluntary mutisms
 primary_id: MESH:D009155
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
mutism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap2 contactin associated protein 2 susceptibility ISO DNA:SNP,haplotype: :rs2710102,rs6944808(human) RGD PMID:21193173 RGD:13450911 NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18448
      Neurodevelopmental Disorders 6834
        mutism 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      nervous system disease 14065
        central nervous system disease 12403
          brain disease 11639
            disease of mental health 8308
              developmental disorder of mental health 5545
                specific developmental disorder 4507
                  communication disorder 402
                    language disorder 156
                      speech disorder 80
                        mutism 1
paths to the root