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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease type 4B2
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Accession:DOID:0110190 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene. (DO)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA;   CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA;   CMT4B2;   Charcot-Marie-Tooth Disease Type 4B2, with Early-Onset Glaucoma;   Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4B2;   Charcot-Marie-Tooth Neuropathy, Type 4B2
 primary_id: MESH:C535421;   MESH:C535422;   MESH:C565761
 alt_id: OMIM:604563;   RDO:0000522;   RDO:0000523;   RDO:0014313
 xref: GARD:9200;   ORDO:99956
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Charcot-Marie-Tooth disease type 4B2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sbf2 SET binding factor 2 JBrowse link 1 174,948,361 175,420,161 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15619
    sensory system disease 4674
      eye and adnexa disease 2242
        eye disease 2242
          glaucoma 137
            Early-Onset Glaucoma 1
              Charcot-Marie-Tooth disease type 4B2 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      cardiovascular system disease 4277
        vascular disease 3309
          artery disease 2187
            hypertension 1462
              ocular hypertension 153
                glaucoma 137
                  Early-Onset Glaucoma 1
                    Charcot-Marie-Tooth disease type 4B2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.