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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:carpal tunnel syndrome 2
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Accession:DOID:0070467 term browser browse the term
Definition:A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.11. (DO)
Synonyms:exact_synonym: CTS2
 primary_id: OMIM:619161
 alt_id: DOID:9003916


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carpal tunnel syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Comp cartilage oligomeric matrix protein ISO ClinVar Annotator: match by term: Carpal tunnel syndrome 2 OMIM
ClinVar		 PMID:12483304 PMID:14684695 PMID:21834907 PMID:21965141 PMID:24595329 More... NCBI chr16:19,047,206...19,055,584
Ensembl chr16:19,047,207...19,055,845 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10887
      nerve compression syndrome 4
        carpal tunnel syndrome 2
          carpal tunnel syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        peripheral nervous system disease 4123
          neuropathy 3906
            neuritis 197
              mononeuritis 150
                mononeuritis of upper limb and mononeuritis multiplex 12
                  median neuropathy 12
                    carpal tunnel syndrome 2
                      carpal tunnel syndrome 2 1
paths to the root