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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 4C
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Accession:DOID:0110183 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene. (DO)
Synonyms:exact_synonym: CMT 4C;   CMT4C;   Charcot-Marie-Tooth Neuropathy, Type 4c;   Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4c
 broad_synonym: SH3TC2-RELATED DISORDER
 primary_id: MESH:C535423
 alt_id: OMIM:601596;   RDO:0000525
 xref: NCI:C129864;   ORDO:99949
For additional species annotation, visit the Alliance of Genome Resources.


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Charcot-Marie-Tooth disease type 4C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by OMIM:601596
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4C
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4C
ClinVar Annotator: match by term: CMT 4C
OMIM
ClinVar
PMID:9120441, PMID:14574644, PMID:16326826, PMID:16806930, PMID:16924012, PMID:17470135, PMID:18414213, PMID:18511281, PMID:19086034, PMID:19272779, PMID:19744956, PMID:20028792, PMID:20220177, PMID:21291453, PMID:21840889, PMID:22462672, PMID:22978647, PMID:23281072, PMID:23466821, PMID:23806086, PMID:24033266, PMID:24088041, PMID:25025039, PMID:25188385, PMID:25326637, PMID:25429913, PMID:25525159, PMID:25614874, PMID:25737037, PMID:25741868, PMID:25741869, PMID:26257172, PMID:26392352, PMID:26467025, PMID:26752306, PMID:26794302, PMID:27231023, PMID:27549087, PMID:27582484, PMID:28492532, PMID:29184351, PMID:29321516, PMID:30001926, PMID:30311386 NCBI chr18:57,286,266...57,403,926
Ensembl chr18:57,286,322...57,347,577
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      musculoskeletal system disease 5715
        neuromuscular disease 1775
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 4 34
              Charcot-Marie-Tooth disease type 4C 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          neurodegenerative disease 3186
            Nervous System Heredodegenerative Disorders 1947
              motor peripheral neuropathy 537
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 4 34
                    Charcot-Marie-Tooth disease type 4C 1
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.