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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 dominant intermediate B
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Accession:DOID:0110197 term browser browse the term
Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2). (DO)
Synonyms:exact_synonym: CMTDI1;   CMTDIB;   Charcot-Marie-Tooth Disease, Axonal, Type 2m;   Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B;   DI-CMTB;   DNM2-related intermediate Charcot-Marie-Tooth neuropathy
 narrow_synonym: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2M;   CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA;   CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2M;   CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA;   CMT2M;   CMTDI1 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M
 primary_id: MESH:C564703
 alt_id: OMIM:606482
 xref: ORDO:100044
For additional species annotation, visit the Alliance of Genome Resources.


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Charcot-Marie-Tooth disease dominant intermediate B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by OMIM:606482
ClinVar Annotator: match by synonym: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2M
ClinVar Annotator: match by synonym: Charcot-Marie-Tooth disease, dominant intermediate b, with neutropenia
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate B
ClinVar Annotator: match by term: DNM2-related intermediate Charcot-Marie-Tooth neuropathy
OMIM
ClinVar
PMID:9536098 PMID:15731758 PMID:16227997 PMID:17008356 PMID:17576681 More... NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      musculoskeletal system disease 6416
        neuromuscular disease 1835
          Charcot-Marie-Tooth disease 326
            Charcot-Marie-Tooth disease intermediate type 190
              Charcot-Marie-Tooth disease dominant intermediate B 1
                Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia 0
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          neurodegenerative disease 3507
            Nervous System Heredodegenerative Disorders 2118
              motor peripheral neuropathy 497
                Charcot-Marie-Tooth disease 326
                  Charcot-Marie-Tooth disease intermediate type 190
                    Charcot-Marie-Tooth disease dominant intermediate B 1
                      Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia 0
paths to the root