ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease dominant intermediate D
go back to main search page
Accession:DOID:0110200 term browser browse the term
Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. (DO)
Synonyms:exact_synonym: CMTDID;   Charcot-Marie-Tooth Neuropathy, Dominant Intermediate D;   DI-CMTD;   autosomal dominant intermediate Charcot-Marie-Tooth disease type D
 primary_id: MESH:C564333
 alt_id: OMIM:607791;   RDO:0013337
 xref: ORDO:100046
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Charcot-Marie-Tooth disease dominant intermediate D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      musculoskeletal system disease 3984
        neuromuscular disease 1411
          Charcot-Marie-Tooth disease 265
            Charcot-Marie-Tooth disease intermediate type 188
              Charcot-Marie-Tooth disease dominant intermediate D 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          neurodegenerative disease 2092
            Nervous System Heredodegenerative Disorders 1168
              motor peripheral neuropathy 413
                Charcot-Marie-Tooth disease 265
                  Charcot-Marie-Tooth disease intermediate type 188
                    Charcot-Marie-Tooth disease dominant intermediate D 1
paths to the root

NHLBI Logo

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