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RGD uses the Human Disease Ontology (DO, 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 4B2
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Accession:DOID:0110190 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene. (DO)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA;   CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA;   CMT4B2;   Charcot-Marie-Tooth Disease Type 4B2, with Early-Onset Glaucoma;   Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4B2;   Charcot-Marie-Tooth Neuropathy, Type 4B2
 primary_id: MESH:C535421;   MESH:C535422;   MESH:C565761
 alt_id: OMIM:604563;   RDO:0000522;   RDO:0000523;   RDO:0014313
 xref: GARD:9200;   ORDO:99956
For additional species annotation, visit the Alliance of Genome Resources.

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Charcot-Marie-Tooth disease type 4B2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sbf2 SET binding factor 2 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma
ClinVar Annotator: match by OMIM:604563
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4B2
PMID:9521281, PMID:10932274, PMID:12554688, PMID:12687498, PMID:15304601, PMID:15477569, PMID:25025039, PMID:25741868, PMID:26392352, PMID:26467025, PMID:27582484, PMID:28492532 NCBI chr 1:174,948,361...175,420,161
Ensembl chr 1:174,948,913...175,420,160
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    sensory system disease 5162
      eye disease 2592
        glaucoma 145
          Early-Onset Glaucoma 1
            Charcot-Marie-Tooth disease type 4B2 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          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 4B2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.