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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 2B2
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Accession:DOID:0110179 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene. (DO)
Synonyms:exact_synonym: AR-CMT2B2;   ARCMT2B;   Autosomal recessive axonal CMT4C3;   CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2B2;   CMT 2B2;   CMT2B2;   Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type B2;   Charcot-Marie-Tooth disease, axonal, Type 2B2;   Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2;   Charcot-Marie-Tooth disease, neuronal, Type 2B2;   Charcot-Marie-Tooth neuropathy, type 2B2
 primary_id: MESH:C537991
 alt_id: OMIM:605589
 xref: ORDO:101101


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Charcot-Marie-Tooth disease type 2B2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2 ClinVar PMID:25488817 PMID:25527630 PMID:25741868 PMID:28492532 PMID:30039206 More... NCBI chr 6:54,834,303...54,849,539
Ensembl chr 6:54,834,316...54,852,821 		JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 OMIM
ClinVar		 PMID:10446192 PMID:10446193 PMID:11112660 PMID:15385968 PMID:15749016 More... NCBI chr 6:54,870,359...54,880,814
Ensembl chr 6:54,867,637...54,881,088 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      musculoskeletal system disease 7668
        neuromuscular disease 2980
          Charcot-Marie-Tooth disease 647
            Charcot-Marie-Tooth disease type 2 254
              Charcot-Marie-Tooth disease type 2B2 2
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        central nervous system disease 11610
          neurodegenerative disease 4657
            Nervous System Heredodegenerative Disorders 3193
              motor peripheral neuropathy 1185
                Charcot-Marie-Tooth disease 647
                  Charcot-Marie-Tooth disease type 2 254
                    Charcot-Marie-Tooth disease type 2B2 2
paths to the root