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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease type 4H
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Accession:DOID:0110192 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4). (DO)
Synonyms:exact_synonym: CMT4H;   Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4H;   Charcot-Marie-Tooth Neuropathy, Type 4H;   autosomal recessive Charcot-Marie-Tooth disease type 4H
 primary_id: MESH:C563740
 alt_id: OMIM:609311;   RDO:0012924
 xref: ORDO:99954
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Charcot-Marie-Tooth disease type 4H term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgd4 FYVE, RhoGEF and PH domain containing 4 JBrowse link 11 88,699,222 88,796,677 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      musculoskeletal system disease 4281
        neuromuscular disease 1521
          Charcot-Marie-Tooth disease 317
            Charcot-Marie-Tooth disease type 4 26
              Charcot-Marie-Tooth disease type 4H 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        central nervous system disease 8101
          neurodegenerative disease 2692
            Nervous System Heredodegenerative Disorders 1718
              motor peripheral neuropathy 456
                Charcot-Marie-Tooth disease 317
                  Charcot-Marie-Tooth disease type 4 26
                    Charcot-Marie-Tooth disease type 4H 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.