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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease X-linked recessive 4
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Accession:DOID:0110212 term browser browse the term
Definition:A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26. (DO)
Synonyms:exact_synonym: CMT4X;   CMTX4;   COWCK;   Charcot-Marie-Tooth disease X-linked recessive, type 4;   Charcot-Marie-Tooth disease with deafness and mental retardation;   Cowchock syndrome;   NADMR;   NAMSD;   Neuropathy, Axonal Motor-Sensory, with Deafness and Mental Retardation;   X-linked Charcot-Marie-Tooth disease type 4
 primary_id: MESH:C536450
 alt_id: OMIM:310490;   RDO:0002044
 xref: ORDO:101078
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Charcot-Marie-Tooth disease X-linked recessive 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:7240710
RGD:8554872
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Neurodevelopmental Disorders 4067
        intellectual disability 1703
          Mental Retardation, X-Linked 656
            Charcot-Marie-Tooth disease X-linked recessive 4 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            disease of mental health 5514
              developmental disorder of mental health 2709
                specific developmental disorder 1880
                  intellectual disability 1703
                    syndromic intellectual disability 672
                      Mental Retardation, X-Linked 656
                        Charcot-Marie-Tooth disease X-linked recessive 4 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.