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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 axonal type 2T
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Accession:DOID:0110160 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25. (DO)
Synonyms:exact_synonym: AR-CMT2T;   CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2T;   CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2T;   CMT2T;   MME-RELATED AUTOSOMAL DOMINANT CHARCOT MARIE TOOTH DISEASE TYPE 2
 primary_id: OMIM:617017
 alt_id: RDO:9000420
 xref: EFO:0009162;   ORDO:443950
For additional species annotation, visit the Alliance of Genome Resources.



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Charcot-Marie-Tooth disease axonal type 2T term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2T ClinVar PMID:24088041 PMID:26633545 NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277
JBrowse link
G Mme membrane metallo-endopeptidase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2T | ClinVar Annotator: match by term: MME-related autosomal dominant Charcot Marie Tooth disease type 2 OMIM
ClinVar
PMID:15464186 PMID:16199547 PMID:25565308 PMID:25741868 PMID:26991897 More... NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      musculoskeletal system disease 7303
        neuromuscular disease 2236
          Charcot-Marie-Tooth disease 431
            Charcot-Marie-Tooth disease type 2 166
              Charcot-Marie-Tooth disease axonal type 2T 2
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      nervous system disease 13264
        central nervous system disease 11415
          neurodegenerative disease 3943
            Nervous System Heredodegenerative Disorders 2429
              motor peripheral neuropathy 708
                Charcot-Marie-Tooth disease 431
                  Charcot-Marie-Tooth disease type 2 166
                    Charcot-Marie-Tooth disease axonal type 2T 2
paths to the root