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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:median neuropathy
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Accession:DOID:571 term browser browse the term
Definition:Disease involving the median nerve, from its origin at the BRACHIAL PLEXUS to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (CARPAL TUNNEL SYNDROME).
Synonyms:exact_synonym: Distal Medial Neuropathies;   Distal Medial Neuropathy;   MONONEUROPATHY OF THE MEDIAN NERVE;   Median Nerve Disease;   Median Nerve Diseases;   Median Nerve Neuralgia;   Median Nerve Neuralgias;   Median Neuropathies;   Proximal Median Neuropathies;   Proximal Median Neuropathy
 primary_id: MESH:D020423
 xref: EFO:0020031;   ICD10CM:G56.10;   ICD9CM:354.1
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
median neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EGFR epidermal growth factor receptor ISO RGD PMID:18845940 RGD:126790486 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO RGD PMID:19296522 RGD:10449020 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO RGD PMID:19296522 PMID:18845940 RGD:10449020, RGD:126790486 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO RGD PMID:19296522 PMID:18845940 RGD:10449020, RGD:126790486 NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841 		JBrowse link
G LOC126807546 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:148363540-148364739 IAGP ClinVar Annotator: match by term: Mononeuropathy of the Median Nerve ClinVar NCBI chr 5:148,983,977...148,985,176 JBrowse link
G MT1A metallothionein 1A ISO RGD PMID:22253198 RGD:6483815 NCBI chr16:56,638,666...56,640,087
Ensembl chr16:56,638,666...56,640,087 		JBrowse link
G MT1F metallothionein 1F ISO RGD PMID:22253198 RGD:6483815 NCBI chr16:56,657,959...56,659,303
Ensembl chr16:56,657,731...56,660,698 		JBrowse link
G MT2A metallothionein 2A ISO mRNA:decreased expression:left median nerve (rat) RGD PMID:22253198 RGD:6483815 NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497 		JBrowse link
G MT3 metallothionein 3 treatment ISO RGD PMID:22253198 RGD:6483815 NCBI chr16:56,589,528...56,591,085
Ensembl chr16:56,589,074...56,591,088 		JBrowse link
G NPY neuropeptide Y ISO RGD PMID:19456245 RGD:10448955 NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862 		JBrowse link
G NRG1 neuregulin 1 ISO RGD PMID:19296522 RGD:10449020 NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666 		JBrowse link
G SH3TC2 SH3 domain and tetratricopeptide repeats 2 IAGP ClinVar Annotator: match by term: Mononeuropathy of the Median Nerve ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163 		JBrowse link
carpal tunnel syndrome term browser
Symbol Object Name Qualifiers 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
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 Qualifiers 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 Qualifiers 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 35773
    disease of anatomical entity 32516
      nervous system disease 26410
        peripheral nervous system disease 5397
          mononeuropathy 154
            mononeuritis 152
              mononeuritis of upper limb and mononeuritis multiplex 14
                median neuropathy 14
                  carpal tunnel syndrome + 2
Path 2
Term Annotations click to browse term
  disease 35773
    disease of anatomical entity 32516
      nervous system disease 26410
        peripheral nervous system disease 5397
          neuropathy 5142
            mononeuropathy 154
              mononeuritis 152
                mononeuritis of upper limb and mononeuritis multiplex 14
                  median neuropathy 14
                    carpal tunnel syndrome + 2
paths to the root