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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 2F
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Accession:DOID:0110163 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1). (DO)
Synonyms:exact_synonym: CMT 2F;   CMT2F;   Charcot-Marie-Tooth disease type 2F;   Charcot-Marie-Tooth disease, neuronal, type 2F;   Charcot-Marie-Tooth neuronal type 2F;   Charcot-Marie-Tooth neuropathy, type 2F;   autosomal dominant Charcot-Marie-Tooth disease type 2F
 broad_synonym: HSPB1-related disorder
 primary_id: MESH:C535413
 alt_id: OMIM:606595
 xref: ORDO:99940


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Charcot-Marie-Tooth disease axonal type 2F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspb1 heat shock protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2F | ClinVar Annotator: match by term: HSPB1-Related Disorder		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11528513 PMID:12372593 PMID:15122254 PMID:16087758 More... NCBI chr 5:135,916,773...135,918,417
Ensembl chr 5:135,916,773...135,918,417 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      musculoskeletal system disease 7930
        neuromuscular disease 3076
          Charcot-Marie-Tooth disease 658
            Charcot-Marie-Tooth disease type 2 261
              Charcot-Marie-Tooth disease axonal type 2F 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          neurodegenerative disease 4811
            Nervous System Heredodegenerative Disorders 3288
              motor peripheral neuropathy 1203
                Charcot-Marie-Tooth disease 658
                  Charcot-Marie-Tooth disease type 2 261
                    Charcot-Marie-Tooth disease axonal type 2F 1
paths to the root