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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 TYPE 2T;   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
 broad_synonym: MME-RELATED CONDITION
 primary_id: MIM:617017
 alt_id: RDO:9000420
 xref: EFO:0009162;   ORDO:443950


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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 9:84,179,702...84,187,942
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: Charcot-Marie-Tooth disease type 2T | ClinVar Annotator: match by term: MME-related autosomal dominant Charcot Marie Tooth disease type 2 | ClinVar Annotator: match by term: MME-related condition OMIM
ClinVar		 PMID:15464186 PMID:16199547 PMID:24033266 PMID:25565308 PMID:25741868 More... NCBI chr 2:149,806,826...149,957,381
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 19139
    disease of anatomical entity 18451
      musculoskeletal system disease 8462
        neuromuscular disease 3226
          Charcot-Marie-Tooth disease 729
            Charcot-Marie-Tooth disease type 2 319
              Charcot-Marie-Tooth disease axonal type 2T 2
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        central nervous system disease 12639
          neurodegenerative disease 5077
            Nervous System Heredodegenerative Disorders 3370
              motor peripheral neuropathy 1303
                Charcot-Marie-Tooth disease 729
                  Charcot-Marie-Tooth disease type 2 319
                    Charcot-Marie-Tooth disease axonal type 2T 2
paths to the root