ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease recessive intermediate D
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Accession:DOID:0110203 term browser browse the term
Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24. (DO)
Synonyms:exact_synonym: CMTRID;   RI-CMT type D;   autosomal recessive intermediate Charcot-Marie-Tooth disease D;   autosomal recessive intermediate Charcot-Marie-Tooth disease type D
 primary_id: OMIM:616039
 alt_id: RDO:9001391
 xref: ORDO:435998
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Charcot-Marie-Tooth disease recessive intermediate D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cox6a1 cytochrome c oxidase subunit 6A1 JBrowse link 12 47,024,442 47,027,495 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      musculoskeletal system disease 3984
        neuromuscular disease 1411
          Charcot-Marie-Tooth disease 265
            Charcot-Marie-Tooth disease intermediate type 188
              Charcot-Marie-Tooth disease recessive intermediate D 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          neurodegenerative disease 2091
            Nervous System Heredodegenerative Disorders 1168
              motor peripheral neuropathy 413
                Charcot-Marie-Tooth disease 265
                  Charcot-Marie-Tooth disease intermediate type 188
                    Charcot-Marie-Tooth disease recessive intermediate D 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.