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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 1F
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Accession:DOID:0110149 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene. (DO)
Synonyms:exact_synonym: CMT 1F;   CMT1f;   Charcot-Marie-Tooth disease, demyelinating, type 1F;   Charcot-Marie-Tooth neuropathy, type 1F
 primary_id: MESH:C537987
 alt_id: OMIM:607734;   RDO:0003916
 xref: ORDO:101085

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Charcot-Marie-Tooth disease type 1F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: CMT 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1f OMIM
ClinVar		 PMID:2288874 PMID:12477167 PMID:12481988 PMID:12566280 PMID:15111691 More... NCBI chrNW_004955403:47,946,413...47,951,734
Ensembl chrNW_004955403:47,946,353...47,952,026 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14194
    disease of anatomical entity 13849
      musculoskeletal system disease 7281
        neuromuscular disease 2855
          Charcot-Marie-Tooth disease 627
            Charcot-Marie-Tooth disease type 1 57
              Charcot-Marie-Tooth disease type 1F 1
Path 2
Term Annotations click to browse term
  disease 14194
    disease of anatomical entity 13849
      nervous system disease 12113
        central nervous system disease 10883
          neurodegenerative disease 4407
            Nervous System Heredodegenerative Disorders 3022
              motor peripheral neuropathy 1148
                Charcot-Marie-Tooth disease 627
                  Charcot-Marie-Tooth disease type 1 57
                    Charcot-Marie-Tooth disease type 1F 1
paths to the root