Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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 2N
go back to main search page
Accession:DOID:0110177 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21. (DO)
Synonyms:exact_synonym: CMT2N;   Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n;   Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n;   autosomal dominant Charcot-Marie-Tooth disease type 2N
 primary_id: MESH:C567653
 alt_id: OMIM:613287;   RDO:0015669
 xref: ORDO:228174
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Charcot-Marie-Tooth disease axonal type 2N term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by OMIM:613287
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2N
OMIM
ClinVar
PMID:20045102, PMID:22009580, PMID:22206013, PMID:23806086, PMID:24088041, PMID:25741868, PMID:26257172, PMID:26752306, PMID:28492532 NCBI chr19:43,193,264...43,215,281
Ensembl chr19:43,193,257...43,215,281
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      musculoskeletal system disease 5737
        neuromuscular disease 1778
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 2 63
              Charcot-Marie-Tooth disease axonal type 2N 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          neurodegenerative disease 3190
            Nervous System Heredodegenerative Disorders 1950
              motor peripheral neuropathy 536
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 2 63
                    Charcot-Marie-Tooth disease axonal type 2N 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.