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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease type 1A
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Accession:DOID:0110148 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). (DO)
Synonyms:exact_synonym: CMT1A;   Charcot Marie Tooth Disease, Type IA;   Charcot Marie Tooth Neuropathy, Type 1A;   Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A;   Charcot-Marie-Tooth disease, demyelinating, type 1A;   Charcot-Marie-Tooth disease, type 1A, with focally folded myelin sheaths;   HMSN 1A;   HMSN IA;   HMSN1A;   hereditary motor and sensory neuropathy 1A;   hereditary motor and sensory neuropathy IA;   microduplication 17p12
 primary_id: OMIM:118220
 alt_id: RDO:9002092
 xref: GARD:1245;   ORDO:101081
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Charcot-Marie-Tooth disease type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdrt4 CMT1A duplicated region transcript 4 JBrowse link 10 49,368,183 49,400,284 RGD:8554872
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 JBrowse link 10 50,439,778 50,563,920 RGD:8554872
G Hs3st3b1 heparan sulfate-glucosamine 3-sulfotransferase 3B1 JBrowse link 10 50,369,097 50,402,584 RGD:8554872
G LOC102553110 ral guanine nucleotide dissociation stimulator-like JBrowse link 16 12,173,055 12,177,781 RGD:8554872
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:7240710
RGD:8554872
G Tekt3 tektin 3 JBrowse link 10 49,472,520 49,506,473 RGD:8554872

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 1 12
              Charcot-Marie-Tooth disease type 1A 6
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 1 12
                    Charcot-Marie-Tooth disease type 1A 6
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.