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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: MIM:601596;   RDO:0000525
 xref: NCI:C129864;   ORDO:99949

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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 term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4C | ClinVar Annotator: match by term: CMT 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4C | ClinVar Annotator: match by term: SH3TC2-related disorder OMIM
ClinVar		 PMID:9536098 PMID:14574644 PMID:16199547 PMID:16326826 PMID:16806930 More... NCBI chrNW_004624774:8,391,285...8,454,828
Ensembl chrNW_004624774:8,398,925...8,454,774 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14093
    disease of anatomical entity 13772
      musculoskeletal system disease 7244
        neuromuscular disease 2855
          Charcot-Marie-Tooth disease 627
            Charcot-Marie-Tooth disease type 4 62
              Charcot-Marie-Tooth disease type 4C 1
Path 2
Term Annotations click to browse term
  disease 14093
    disease of anatomical entity 13772
      nervous system disease 12061
        central nervous system disease 10821
          neurodegenerative disease 4395
            Nervous System Heredodegenerative Disorders 3011
              motor peripheral neuropathy 1142
                Charcot-Marie-Tooth disease 627
                  Charcot-Marie-Tooth disease type 4 62
                    Charcot-Marie-Tooth disease type 4C 1
paths to the root