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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
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Accession:DOID:12169 term browser browse the term
Definition:A nerve compression syndrome characterized by pressure on the median nerve at the wrist resulting in numbness, tingling, pain, and muscle weakness in the hand and forearm. (DO)
Synonyms:exact_synonym: CARPAL TUNNEL SYNDROME, FAMILIAL;   CTS;   CTS - carpal tunnel syndrome;   Carpal Tunnel Syndromes;   Compression Neuropathy, Carpal Tunnel;   Entrapment Neuropathy, Carpal Tunnel;   carpal tunnel median neuropathy;   median nerve entrapment;   thenar amyotrophy of carpal origin
 primary_id: MESH:D002349
 xref: EFO:0004143;   ICD10CM:G56.0;   ICD9CM:354.0;   NCI:C34450;   OMIM:PS115430
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
carpal tunnel syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTR transthyretin EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Carpal tunnel syndrome, familial		 CTD
ClinVar		 PMID:192115 PMID:1335038 PMID:1351039 PMID:1353008 PMID:1358785 More... NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		JBrowse link
carpal tunnel syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTR transthyretin IAGP ClinVar Annotator: match by term: Carpal tunnel syndrome 1 OMIM
ClinVar		 PMID:192115 PMID:1335038 PMID:1351039 PMID:1353008 PMID:1358785 More... NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		JBrowse link
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 IAGP ClinVar Annotator: match by term: Carpal tunnel syndrome 2 OMIM
ClinVar		 PMID:12483304 PMID:14684695 PMID:21834907 PMID:21965141 PMID:24595329 More... NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18075
      nerve compression syndrome 4
        carpal tunnel syndrome 2
          carpal tunnel syndrome 1 1
          carpal tunnel syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        peripheral nervous system disease 5382
          neuropathy 5129
            neuritis 188
              mononeuritis 152
                mononeuritis of upper limb and mononeuritis multiplex 14
                  median neuropathy 14
                    carpal tunnel syndrome 2
                      carpal tunnel syndrome 1 1
                      carpal tunnel syndrome 2 1
paths to the root