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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 4B3
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Accession:DOID:0110194 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 SBF1 gene on chromosome 22q. (DO)
Synonyms:exact_synonym: CMT4B3;   SBF1-RELATED CONDITION
 primary_id: OMIM:615284
 xref: NCI:C190871;   ORDO:363981

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Charcot-Marie-Tooth disease type 4B3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp6r2 protein phosphatase 6 regulatory subunit 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3 ClinVar PMID:23749797 PMID:33987933 NCBI chrNW_004624752:331,301...434,191
Ensembl chrNW_004624752:332,145...411,391 		JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3 | ClinVar Annotator: match by term: SBF1-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21210780 PMID:23749797 More... NCBI chrNW_004624752:302,589...329,974
Ensembl chrNW_004624752:302,557...329,974 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14102
    disease of anatomical entity 13770
      musculoskeletal system disease 7235
        neuromuscular disease 2849
          Charcot-Marie-Tooth disease 627
            Charcot-Marie-Tooth disease type 4 62
              Charcot-Marie-Tooth disease type 4B3 2
Path 2
Term Annotations click to browse term
  disease 14102
    disease of anatomical entity 13770
      nervous system disease 12060
        central nervous system disease 10811
          neurodegenerative disease 4389
            Nervous System Heredodegenerative Disorders 3002
              motor peripheral neuropathy 1142
                Charcot-Marie-Tooth disease 627
                  Charcot-Marie-Tooth disease type 4 62
                    Charcot-Marie-Tooth disease type 4B3 2
paths to the root