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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
 primary_id: OMIM:615284
 xref: ORDO:363981
For additional species annotation, visit the Alliance of Genome Resources.


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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 Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by OMIM:615284
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4B3
OMIM
ClinVar
PMID:21210780 PMID:23749797 PMID:24799518 PMID:25558065 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 7:130,261,552...130,288,566
Ensembl chr 7:130,261,552...130,288,509
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        neuromuscular disease 1802
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 4 34
              Charcot-Marie-Tooth disease type 4B3 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          neurodegenerative disease 3235
            Nervous System Heredodegenerative Disorders 1952
              motor peripheral neuropathy 536
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 4 34
                    Charcot-Marie-Tooth disease type 4B3 1
paths to the root