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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 2S
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Accession:DOID:0110171 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 IGHMBP2 gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S;   CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S;   CMT2S;   Charcot-Marie-Tooth disease type 2S;   autosomal recessive axonal Charcot-Marie-Tooth type 2S
 primary_id: OMIM:616155
 alt_id: RDO:9001125
 xref: ORDO:443073
For additional species annotation, visit the Alliance of Genome Resources.


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Charcot-Marie-Tooth disease axonal type 2S term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2S OMIM
ClinVar		 PMID:2545169 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 More... NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      musculoskeletal system disease 7230
        neuromuscular disease 2223
          Charcot-Marie-Tooth disease 428
            Charcot-Marie-Tooth disease type 2 165
              Charcot-Marie-Tooth disease axonal type 2S 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        central nervous system disease 11323
          neurodegenerative disease 3902
            Nervous System Heredodegenerative Disorders 2394
              motor peripheral neuropathy 683
                Charcot-Marie-Tooth disease 428
                  Charcot-Marie-Tooth disease type 2 165
                    Charcot-Marie-Tooth disease axonal type 2S 1
paths to the root