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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 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061 		JBrowse link
G Nefh neurofilament heavy chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C ClinVar PMID:25741868 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:956253 PMID:1520078 PMID:4056805 PMID:6628444 PMID:8179305 More... NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      musculoskeletal system disease 8216
        neuromuscular disease 3038
          Charcot-Marie-Tooth disease 655
            Charcot-Marie-Tooth disease type 2 252
              Charcot-Marie-Tooth disease axonal type 2C 3
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      nervous system disease 14004
        central nervous system disease 12353
          neurodegenerative disease 4856
            Nervous System Heredodegenerative Disorders 3215
              motor peripheral neuropathy 1196
                Charcot-Marie-Tooth disease 655
                  Charcot-Marie-Tooth disease type 2 252
                    Charcot-Marie-Tooth disease axonal type 2C 3
paths to the root