Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease axonal type 2P
go back to main search page
Accession:DOID:0110169 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33. (DO)
Synonyms:exact_synonym: CMT 2G;   CMT2G;   CMT2P;   Charcot-Marie-Tooth disease, type 2G;   Charcot-Marie-Tooth disease, type 2P;   Charcot-Marie-Tooth neuropathy, type 2G;   Charcot-Marie-Tooth neuropathy, type 2P
 primary_id: OMIM:614436
 alt_id: RDO:0000515;   RDO:9000224
 xref: GARD:12435;   ORDO:300319
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 axonal type 2P term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 3 11,970,401 12,009,463 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        neuromuscular disease 1520
          Charcot-Marie-Tooth disease 318
            Charcot-Marie-Tooth disease type 2 62
              Charcot-Marie-Tooth disease axonal type 2P 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1718
              motor peripheral neuropathy 457
                Charcot-Marie-Tooth disease 318
                  Charcot-Marie-Tooth disease type 2 62
                    Charcot-Marie-Tooth disease axonal type 2P 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.