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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 2CC
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Accession:DOID:0110180 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12. (DO)
Synonyms:exact_synonym: CMT2CC;   Charcot-Marie-Tooth neuropathy, type 2CC
 broad_synonym: NEFH-RELATED CONDITION
 primary_id: OMIM:616924
 alt_id: RDO:9000361


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Charcot-Marie-Tooth disease axonal type 2CC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nefh neurofilament heavy chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CC | ClinVar Annotator: match by term: NEFH-related condition		 CTD
ClinVar
OMIM		 PMID:25741868 PMID:27040688 PMID:28492532 PMID:28749476 PMID:29411640 More... NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      musculoskeletal system disease 8272
        neuromuscular disease 3052
          Charcot-Marie-Tooth disease 660
            Charcot-Marie-Tooth disease type 2 258
              Charcot-Marie-Tooth disease axonal type 2CC 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          neurodegenerative disease 4894
            Nervous System Heredodegenerative Disorders 3248
              motor peripheral neuropathy 1202
                Charcot-Marie-Tooth disease 660
                  Charcot-Marie-Tooth disease type 2 258
                    Charcot-Marie-Tooth disease axonal type 2CC 1
paths to the root