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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease type 2A2
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Accession:DOID:0110155 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.2. (DO)
Synonyms:exact_synonym: CMT2A2;   Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2;   Charcot-Marie-Tooth Disease, Axonal, Type 2A2;   Charcot-Marie-Tooth Disease, Neuronal, Type 2A2;   Charcot-Marie-Tooth neuronal, type 2A2;   Charcot-Marie-Tooth neuropathy, type 2A2;   HMSN IIA2;   HMSN2A2;   HMSNIIA2;   Hereditary Motor And Sensory Neuropathy IIA2
 narrow_synonym: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2, AUTOSOMAL RECESSIVE
 primary_id: MESH:C563757
 alt_id: RDO:0012935
 xref: ORDO:99947
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Charcot-Marie-Tooth disease type 2A2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:12738379
RGD:8554872
RGD:11554173
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:7240710
RGD:8554872
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      musculoskeletal system disease 4277
        neuromuscular disease 1522
          Charcot-Marie-Tooth disease 318
            Charcot-Marie-Tooth disease type 2 62
              Charcot-Marie-Tooth disease type 2A2 1
                Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A 1
                Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1718
              motor peripheral neuropathy 458
                Charcot-Marie-Tooth disease 318
                  Charcot-Marie-Tooth disease type 2 62
                    Charcot-Marie-Tooth disease type 2A2 1
                      Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A 1
                      Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.