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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 2L
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Accession:DOID:0110174 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene. (DO)
Synonyms:exact_synonym: CMT2L;   Charcot-Marie-Tooth disease, type 2L;   autosomal dominant Charcot-Marie-Tooth disease type 2L;   axonal Charcot-Marie-Tooth disease, autosomal dominant, type 2L;   axonal Charcot-Marie-Tooth neuropathy, type 2L
 primary_id: OMIM:608673
 xref: ORDO:99945


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Charcot-Marie-Tooth disease axonal type 2L term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPB8 heat shock protein family B (small) member 8 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2L | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2L OMIM
ClinVar		 PMID:15021985 PMID:15122253 PMID:15565283 PMID:17344846 PMID:18832141 More... NCBI chr26:15,337,718...15,349,993
Ensembl chr26:15,336,864...15,355,757 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      musculoskeletal system disease 7740
        neuromuscular disease 3016
          Charcot-Marie-Tooth disease 645
            Charcot-Marie-Tooth disease type 2 254
              Charcot-Marie-Tooth disease axonal type 2L 1
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      nervous system disease 13207
        central nervous system disease 11844
          neurodegenerative disease 4710
            Nervous System Heredodegenerative Disorders 3231
              motor peripheral neuropathy 1186
                Charcot-Marie-Tooth disease 645
                  Charcot-Marie-Tooth disease type 2 254
                    Charcot-Marie-Tooth disease axonal type 2L 1
paths to the root