ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease recessive intermediate A
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Accession:DOID:0110201 term browser browse the term
Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21. (DO)
Synonyms:exact_synonym: CMTRIA;   Charcot-Marie-Tooth neuropathy, recessive intermediate A;   RI-CMTA;   autosomal recessive intermediate Charcot-Marie-Tooth disease type A
 primary_id: MESH:C564256
 alt_id: OMIM:608340;   RDO:0013281
 xref: ORDO:217055
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Charcot-Marie-Tooth disease recessive intermediate A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:8554872
G Gdap1 ganglioside-induced differentiation-associated-protein 1 JBrowse link 5 1,328,963 1,347,946 RGD:7240710
RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      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 A 4
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          neurodegenerative disease 2092
            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 A 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.