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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 2C
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Accession:DOID:0110182 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24. (DO)
Synonyms:exact_synonym: CMT2C;   Charcot-Marie-Tooth Neuropathy, Type 2C;   Charcot-Marie-Tooth disease type 2C;   HMSN IIC;   HMSN2C;   Hereditary Motor and Sensory Neuropathy, Type IIC;   Hereditary motor and sensory neuropathy 2 C;   autosomal cominant axonal Charcot-Marie-Tooth disease type 2C;   autosomal dominant Charcot-Marie-Tooth disease type 2C;   autosomal dominant axonal Charcot-Marie-Tooth disease, type 2C
 primary_id: MESH:C537992;   MESH:C565261
 alt_id: OMIM:606071
 xref: ORDO:99937


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Charcot-Marie-Tooth disease axonal type 2C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDAP1 ganglioside induced differentiation associated protein 1 ISO DNA:missense mutation:cds:p.G327D (human) RGD PMID:21365284 RGD:12738395 NCBI chr 8:70,854,665...70,900,532
Ensembl chr 8:72,528,869...72,545,346 		JBrowse link
G NEFH neurofilament heavy chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C ClinVar PMID:25741868 NCBI chr22:10,525,738...10,536,788 JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy 2 C OMIM
ClinVar		 PMID:956253 PMID:1520078 PMID:2128891 PMID:4056805 PMID:6628444 More... NCBI chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      musculoskeletal system disease 7804
        neuromuscular disease 3025
          Charcot-Marie-Tooth disease 667
            Charcot-Marie-Tooth disease type 2 259
              Charcot-Marie-Tooth disease axonal type 2C 3
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          neurodegenerative disease 4734
            Nervous System Heredodegenerative Disorders 3268
              motor peripheral neuropathy 1213
                Charcot-Marie-Tooth disease 667
                  Charcot-Marie-Tooth disease type 2 259
                    Charcot-Marie-Tooth disease axonal type 2C 3
paths to the root