ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease dominant intermediate E
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Accession:DOID:0110205 term browser browse the term
Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32. (DO)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS;   CMTDIE;   Charcot-Marie-Tooth disease-nephropathy syndrome;   autosomal dominant intermediate Charcot-Marie-Tooth disease type E
 primary_id: OMIM:614455
 alt_id: RDO:9000226
 xref: ORDO:93114
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Charcot-Marie-Tooth disease dominant intermediate E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Inf2 inverted formin, FH2 and WH2 domain containing JBrowse link 6 137,162,593 137,180,198 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 dominant intermediate E 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 dominant intermediate E 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.