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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease type 1C
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Accession:DOID:0110151 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13. (DO)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1C;   CMT, slow nerve conduction type C;   CMT1C;   Charcot-Marie-Tooth Neuropathy, Type 1C Neuropathy, Hereditary Motor And Sensory, Type IC;   Charcot-Marie-Tooth disease, demyelinating, type 1C;   HMSN IC;   HMSN1C;   HMSNIC;   hereditary motor and sensory neuropathy type 1C;   hereditary motor and sensory neuropathy type IC
 primary_id: MESH:C537984
 alt_id: OMIM:601098;   RDO:0003913
 xref: ORDO:101083
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Charcot-Marie-Tooth disease type 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Litaf lipopolysaccharide-induced TNF factor JBrowse link 10 4,753,546 4,763,272 RGD:7240710
RGD:8554872
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 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 1C 2
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 1C 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.