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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:Charcot-Marie-Tooth disease type 2D
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Accession:DOID:0110164 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding glycyl tRNA synthetase (GARS). (DO)
Synonyms:exact_synonym: CMT2D;   Charcot-Marie-Tooth disease, axonal, Type 2D;   Charcot-Marie-Tooth disease, neuronal, Type 2D;   Charcot-Marie-Tooth neuropathy, type 2D;   autosomal dominant Charcot-Marie-Tooth disease type 2D
 primary_id: MESH:C537993
 alt_id: OMIM:601472;   RDO:0003922
 xref: NCI:C122659;   ORDO:99938
For additional species annotation, visit the Alliance of Genome Resources.


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Charcot-Marie-Tooth disease type 2D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by OMIM:601472
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2D
OMIM
ClinVar
PMID:8872480, PMID:9879677, PMID:10732809, PMID:12690580, PMID:16534118, PMID:17035524, PMID:17101916, PMID:17544401, PMID:17595294, PMID:19329989, PMID:21737751, PMID:24088041, PMID:24669931, PMID:25168514, PMID:25326637, PMID:25476837, PMID:25614874, PMID:25741868, PMID:26138142, PMID:26392352, PMID:26467025, PMID:26503042, PMID:26633545, PMID:27008886, PMID:27582484, PMID:27790088, PMID:28160950, PMID:28492532, PMID:28594869, PMID:30311386 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        neuromuscular disease 1777
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 2 63
              Charcot-Marie-Tooth disease type 2D 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          neurodegenerative disease 3191
            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 type 2D 1
paths to the root

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