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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease axonal type 2X
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Accession:DOID:0110176 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21. (DO)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2X;   CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X;   CMT2X
 primary_id: OMIM:616668
 alt_id: RDO:9000409
 xref: ORDO:466775
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Charcot-Marie-Tooth disease axonal type 2X term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spg11 SPG11 vesicle trafficking associated, spatacsin JBrowse link 3 113,999,600 114,064,438 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      musculoskeletal system disease 4297
        neuromuscular disease 1530
          Charcot-Marie-Tooth disease 318
            Charcot-Marie-Tooth disease type 2 62
              Charcot-Marie-Tooth disease axonal type 2X 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        central nervous system disease 8118
          neurodegenerative disease 2698
            Nervous System Heredodegenerative Disorders 1723
              motor peripheral neuropathy 457
                Charcot-Marie-Tooth disease 318
                  Charcot-Marie-Tooth disease type 2 62
                    Charcot-Marie-Tooth disease axonal type 2X 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.