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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 type 4B1
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Accession:DOID:0110191 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2). (DO)
Synonyms:exact_synonym: CMT4B;   CMT4B1;   Charcot-Marie-Tooth disease, type 4B;   Charcot-Marie-Tooth neuropathy, type 4B1;   autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1
 primary_id: MESH:C535420
 alt_id: OMIM:601382;   RDO:0000521
 xref: ORDO:99955


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Charcot-Marie-Tooth disease type 4B1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTMR2 myotubularin related protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1 OMIM
ClinVar		 PMID:9536098 PMID:10802647 PMID:11354824 PMID:12398840 PMID:17576681 More... NCBI chr11:90,839,577...90,929,731
Ensembl chr11:94,367,038...94,457,138 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      musculoskeletal system disease 7804
        neuromuscular disease 3025
          Charcot-Marie-Tooth disease 667
            Charcot-Marie-Tooth disease type 4 61
              Charcot-Marie-Tooth disease type 4B1 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          neurodegenerative disease 4734
            Nervous System Heredodegenerative Disorders 3268
              motor peripheral neuropathy 1213
                Charcot-Marie-Tooth disease 667
                  Charcot-Marie-Tooth disease type 4 61
                    Charcot-Marie-Tooth disease type 4B1 1
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