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

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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           Sort by:
 
Charcot-Marie-Tooth disease type 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad9 acyl-CoA dehydrogenase family, member 9 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2b ClinVar PMID:28492532 NCBI chr 2:122,782,051...122,806,166
Ensembl chr 2:122,782,060...122,805,768
JBrowse link
G Cfap92 cilia and flagella associated protein 92 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2b ClinVar PMID:28492532 NCBI chr 4:119,572,669...119,626,852 JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by OMIM:600882
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2b
ClinVar
OMIM
PMID:10636124, PMID:11094113, PMID:12545426, PMID:15455439, PMID:17060578, PMID:18272684, PMID:18501189, PMID:19531583, PMID:19651702, PMID:20028791, PMID:21151572, PMID:22971099, PMID:23179371, PMID:23188822, PMID:23458836, PMID:24344282, PMID:24498653, PMID:24521780, PMID:25741868, PMID:26392352, PMID:26467025, PMID:26791407, PMID:27462242, PMID:28492532 NCBI chr 4:119,910,461...119,963,065
Ensembl chr 4:119,910,478...119,959,173
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        neuromuscular disease 1777
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 2 63
              Charcot-Marie-Tooth disease type 2B 3
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          neurodegenerative disease 3191
            Nervous System Heredodegenerative Disorders 1950
              motor peripheral neuropathy 536
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 2 63
                    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.