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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 2B1
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Accession:DOID:0110156 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22. (DO)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2B1;   CMT2B1;   Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, B1;   Charcot-Marie-Tooth Neuropathy, Type 2b1;   Charcot-Marie-Tooth disease, axonal, Type 2B1;   Charcot-Marie-Tooth disease, neuronal, Type 2B1;   autosomal recessive Charcot-Marie-Tooth disease type 2B1;   autosomal recessive axonal CMT4C1
 primary_id: MESH:C537990
 alt_id: OMIM:605588;   RDO:0003919
 xref: ICD10CM:G60.0;   ORDO:98856
For additional species annotation, visit the Alliance of Genome Resources.

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Charcot-Marie-Tooth disease type 2B1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO DNA:missense mutation:cds:p.R298C (human)
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2B1		 OMIM
ClinVar		 PMID:10612827 PMID:10655060 PMID:10739764 PMID:10939567 PMID:11503164 PMID:11799477 PMID:12032588 PMID:12467734 PMID:12629077 PMID:12649505 PMID:12920062 PMID:12927431 PMID:14597414 PMID:14607793 PMID:14615128 PMID:14684700 PMID:14749366 PMID:15140538 PMID:15205219 PMID:15372542 PMID:15475483 PMID:15744034 PMID:15998779 PMID:16174718 PMID:16440304 PMID:17274801 PMID:17347251 PMID:17377071 PMID:17536044 PMID:17711925 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18564364 PMID:18795223 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19524666 PMID:19589617 PMID:19638735 PMID:19680556 PMID:20848652 PMID:20980393 PMID:21465660 PMID:21520333 PMID:21632249 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22331516 PMID:22464770 PMID:22883396 PMID:22918509 PMID:23183350 PMID:23328570 PMID:23853504 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24503780 PMID:24642510 PMID:24721642 PMID:24768879 PMID:24846508 PMID:25214167 PMID:25637381 PMID:25741868 PMID:26183555 PMID:26332594 PMID:26467025 PMID:26602028 PMID:26752647 PMID:27532257 PMID:27585670 PMID:27723096 PMID:27813223 PMID:27854218 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28531892 PMID:28663758 PMID:28679633 PMID:28785654 PMID:29040816 PMID:29149195 PMID:29237675 PMID:29791652 PMID:30165862, PMID:14607793 RGD:1358482 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      musculoskeletal system disease 5740
        neuromuscular disease 1763
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 2 63
              Charcot-Marie-Tooth disease type 2B1 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          neurodegenerative disease 3216
            Nervous System Heredodegenerative Disorders 1915
              motor peripheral neuropathy 526
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 2 63
                    Charcot-Marie-Tooth disease type 2B1 1
paths to the root