ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease recessive intermediate C
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Accession:DOID:0110198 term browser browse the term
Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C;   CMTRIC;   RI-CMT type C;   RI-CMTC;   autosomal recessive intermediate Charcot-Marie-Tooth disease type C
 primary_id: OMIM:615376
 alt_id: RDO:9000924
 xref: ORDO:369867
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Charcot-Marie-Tooth disease recessive intermediate C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 JBrowse link 5 169,244,778 169,288,310 RGD:7240710
RGD:8554872

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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 C 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 C 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.