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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;   X-linked Charcot-Marie-Tooth disease type 4;   X-linked recessive Charcot-Marie-Tooth disease 4 with or without cerebellar ataxia;   axonal motor-sensory neuropathy with deafness and mental retardation
 primary_id: MESH:C536450
 alt_id: OMIM:310490
 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 15609
    Developmental Diseases 8986
      Neurodevelopmental Disorders 4190
        intellectual disability 1798
          Mental Retardation, X-Linked 656
            Charcot-Marie-Tooth disease X-linked recessive 4 2
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
                  intellectual disability 1798
                    syndromic intellectual disability 676
                      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.