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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.


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carpal tunnel syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttr transthyretin ISO ClinVar Annotator: match by term: Carpal tunnel syndrome | ClinVar Annotator: match by term: Carpal tunnel syndrome, familial ClinVar PMID:192115 PMID:1335038 PMID:1351039 PMID:1353008 PMID:1358785 More... NCBI chrNW_004955402:18,921,235...18,927,976
Ensembl chrNW_004955402:18,921,274...18,928,108
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carpal tunnel syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttr transthyretin ISO ClinVar Annotator: match by term: Carpal tunnel syndrome 1 OMIM
ClinVar
PMID:192115 PMID:1335038 PMID:1351039 PMID:1353008 PMID:1358785 More... NCBI chrNW_004955402:18,921,235...18,927,976
Ensembl chrNW_004955402:18,921,274...18,928,108
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9327
      nerve compression syndrome 3
        carpal tunnel syndrome 1
          carpal tunnel syndrome 1 1
          carpal tunnel syndrome 2 0
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        peripheral nervous system disease 3824
          neuropathy 3643
            neuritis 161
              mononeuritis 132
                mononeuritis of upper limb and mononeuritis multiplex 8
                  median neuropathy 8
                    carpal tunnel syndrome 1
                      carpal tunnel syndrome 1 1
                      carpal tunnel syndrome 2 0
paths to the root