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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
 xref: MIM:608673;   MONDO:0012096;   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 chr12:40,176,405...40,205,002
Ensembl chr12:40,176,532...40,191,185 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      musculoskeletal system disease 8469
        neuromuscular disease 3234
          Charcot-Marie-Tooth disease 729
            Charcot-Marie-Tooth disease type 2 319
              Charcot-Marie-Tooth disease axonal type 2L 1
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      nervous system disease 14363
        central nervous system disease 12646
          neurodegenerative disease 5079
            Nervous System Heredodegenerative Disorders 3371
              motor peripheral neuropathy 1304
                Charcot-Marie-Tooth disease 729
                  Charcot-Marie-Tooth disease type 2 319
                    Charcot-Marie-Tooth disease axonal type 2L 1
paths to the root