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

ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease type 2B
go back to main search page
Accession:DOID:0110159 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21. (DO)
Synonyms:exact_synonym: CMT 2B;   CMT2B;   Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2B;   Charcot-Marie-Tooth Neuropathy, Type 2B;   Charcot-Marie-Tooth disease, axonal, Type 2B;   Charcot-Marie-Tooth disease, neuronal, Type 2B;   HMSN IIB;   HMSN2B;   Hereditary Motor And Sensory Neuropathy IIB;   Hereditary motor and sensory neuropathy 2 B (HMSN 2 B);   Peripheral sensory neuropathy, autosomal dominant (PSN);   hereditary motor and sensory nueropathy IIB
 primary_id: MESH:C537989
 alt_id: OMIM:600882;   RDO:0003918
 xref: GARD:9192;   ORDO:99936
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 type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acad9 acyl-CoA dehydrogenase family, member 9 JBrowse link 2 122,782,051 122,806,166 RGD:8554872
G LOC100362908 hCG20001-like JBrowse link 4 119,572,669 119,626,852 RGD:8554872
G Rab7a RAB7A, member RAS oncogene family JBrowse link 4 119,910,461 119,963,065 RGD:8554872
RGD:7240710

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 type 2B 3
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 type 2B 3
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.