Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Charcot-Marie-Tooth disease, axonal type 2W
go back to main search page
Accession:DOID:0110162 term browser browse the term
Definition:An autosomal dominant neurologic disorder characterized by a peripheral neuropathy mainly affecting the lower limbs and resulting in gait difficulties and distal sensory impairment. (OMIM)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2W;   CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2W;   CMT2W;   Charcot-Marie-Tooth disease type 2W
 primary_id: OMIM:616625
 alt_id: RDO:9001390
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Charcot-Marie-Tooth disease, axonal type 2W term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2w ClinVar
OMIM
PMID:22930593 PMID:25741868 PMID:26072516 PMID:27353947 PMID:28166811 More... NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      musculoskeletal system disease 6446
        neuromuscular disease 1875
          Charcot-Marie-Tooth disease 327
            Charcot-Marie-Tooth disease type 2 64
              Charcot-Marie-Tooth disease, axonal type 2W 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        central nervous system disease 10402
          neurodegenerative disease 3518
            Nervous System Heredodegenerative Disorders 2128
              motor peripheral neuropathy 498
                Charcot-Marie-Tooth disease 327
                  Charcot-Marie-Tooth disease type 2 64
                    Charcot-Marie-Tooth disease, axonal type 2W 1
paths to the root