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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease X-linked recessive 5
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Accession:DOID:0110210 term browser browse the term
Definition:A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22. (DO)
Synonyms:exact_synonym: CMT5X;   CMTX5;   Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5;   Familial opticoacoustic nerve degeneration and polyneuropathy;   Optic Atrophy Polyneuropathy Deafness;   Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive;   Optic atrophy, neural deafness, and distal neurogenic amyotrophy;   Optic atrophy, polyneuropathy, and deafness;   Optic atrophy, sensorineural hearing loss and polyneuropathy;   Rosenberg Chutorian syndrome;   X-linked Charcot-Marie-Tooth disease type 5
 primary_id: MESH:C537129
 alt_id: OMIM:311070;   RDO:0002902
 xref: ORDO:99014
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Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      musculoskeletal system disease 5304
        muscular disease 1019
          atrophic muscular disease 283
            Charcot-Marie-Tooth disease X-linked recessive 5 1
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        central nervous system disease 8544
          brain disease 7900
            disease of mental health 5642
              developmental disorder of mental health 2813
                specific developmental disorder 1975
                  communication disorder 217
                    agnosia 20
                      cortical deafness 5
                        Charcot-Marie-Tooth disease X-linked recessive 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.