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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
JBrowse link
G Nefh neurofilament heavy ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2C ClinVar PMID:25741868 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2C
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2C
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2C
OMIM
ClinVar
CTD
PMID:956253, PMID:1520078, PMID:4056805, PMID:8179305, PMID:10463355, PMID:11891693, PMID:14755468, PMID:15668982, PMID:18587396, PMID:19232556, PMID:19661060, PMID:19666518, PMID:20037586, PMID:20037587, PMID:20037588, PMID:20104247, PMID:20425821, PMID:20460441, PMID:20503319, PMID:20577006, PMID:21115951, PMID:21288981, PMID:21336783, PMID:21454511, PMID:21573172, PMID:21658220, PMID:21964574, PMID:21964829, PMID:22065612, PMID:22291064, PMID:22419508, PMID:22526352, PMID:22675077, PMID:22689196, PMID:22702953, PMID:22791502, PMID:22851605, PMID:24319099, PMID:24575025, PMID:24577120, PMID:24677493, PMID:24789864, PMID:24963089, PMID:25256292, PMID:25703509, PMID:25741868, PMID:25802885, PMID:25900305, PMID:26048687, PMID:26110311, PMID:26170305, PMID:26249260, PMID:26392352, PMID:26467025, PMID:26948711, PMID:27066566, PMID:27330106, PMID:27549087, PMID:27751652, PMID:28492532, PMID:28898540, PMID:29770609, PMID:30311386, PMID:31041394 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      musculoskeletal system disease 5737
        neuromuscular disease 1778
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 2 63
              Charcot-Marie-Tooth disease axonal type 2C 3
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          neurodegenerative disease 3190
            Nervous System Heredodegenerative Disorders 1950
              motor peripheral neuropathy 536
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 2 63
                    Charcot-Marie-Tooth disease axonal type 2C 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.