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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: CMT 4C
OMIM
ClinVar
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 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 16918
    disease of anatomical entity 16286
      musculoskeletal system disease 6244
        neuromuscular disease 1780
          Charcot-Marie-Tooth disease 326
            Charcot-Marie-Tooth disease type 4 34
              Charcot-Marie-Tooth disease type 4C 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          neurodegenerative disease 3348
            Nervous System Heredodegenerative Disorders 1976
              motor peripheral neuropathy 480
                Charcot-Marie-Tooth disease 326
                  Charcot-Marie-Tooth disease type 4 34
                    Charcot-Marie-Tooth disease type 4C 1
paths to the root