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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 recessive intermediate B
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Accession:DOID:0110204 term browser browse the term
Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23. (DO)
Synonyms:exact_synonym: CMTRIB;   Charcot-Marie-Tooth neuropathy recessive intermediate B;   RI-CMTB;   autosomal recessive intermediate Charcot-Marie-Tooth disease type B
 primary_id: OMIM:613641
 xref: ORDO:254334
For additional species annotation, visit the Alliance of Genome Resources.



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Charcot-Marie-Tooth disease recessive intermediate B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate B OMIM
ClinVar
PMID:20920668 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr19:39,957,846...39,976,886
Ensembl chr19:39,957,846...39,977,632
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      musculoskeletal system disease 7231
        neuromuscular disease 2223
          Charcot-Marie-Tooth disease 428
            Charcot-Marie-Tooth disease intermediate type 191
              Charcot-Marie-Tooth disease recessive intermediate B 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        central nervous system disease 11323
          neurodegenerative disease 3902
            Nervous System Heredodegenerative Disorders 2394
              motor peripheral neuropathy 683
                Charcot-Marie-Tooth disease 428
                  Charcot-Marie-Tooth disease intermediate type 191
                    Charcot-Marie-Tooth disease recessive intermediate B 1
paths to the root