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Charcot-Marie-Tooth disease type 2R - Ontology Report - Rat Genome Database

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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 2R
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Accession:DOID:0110161 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q. (DO)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2R;   CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2R;   CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R;   CMT2R;   Charcot-Marie-Tooth Disease, Axonal, Type 2R
 primary_id: MIM:615490
 xref: ORDO:397968

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Charcot-Marie-Tooth disease type 2R term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC129993256 ATAC-STARR-seq lymphoblastoid silent region 15756 IAGP ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2R ClinVar PMID:28492532 NCBI chr 4:153,222,924...153,223,113 JBrowse link
G H LOC129993257 ATAC-STARR-seq lymphoblastoid active region 22050 IAGP ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2R ClinVar PMID:28492532 NCBI chr 4:153,249,682...153,249,731 JBrowse link
G N Trim2 tripartite motif containing 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2R OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23562820 PMID:23806086 More... NCBI chrNW_004624858:4,509,893...4,683,241
Ensembl chrNW_004624858:4,554,681...4,667,312 		JBrowse link
G G TRIM2 tripartite motif containing 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2R OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23562820 PMID:23806086 More... NCBI chr 7:99,702,874...99,888,024
Ensembl chr 7:99,807,646...99,888,340 		JBrowse link
G P TRIM2 tripartite motif containing 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2R OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23562820 PMID:23806086 More... NCBI chr 8:75,770,344...75,939,812
Ensembl chr 8:75,771,048...75,890,357 		JBrowse link
G S Trim2 tripartite motif containing 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2R OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23562820 PMID:23806086 More... NCBI chrNW_004936576:88,163...202,944
Ensembl chrNW_004936576:88,024...202,958 		JBrowse link
G D TRIM2 tripartite motif containing 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2R OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23562820 PMID:23806086 More... NCBI chr15:50,973,758...51,104,422 JBrowse link
G B TRIM2 tripartite motif containing 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2R OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23562820 PMID:23806086 More... NCBI chr 4:145,494,088...145,681,287
Ensembl chr 4:157,194,729...157,500,723 		JBrowse link
G C Trim2 tripartite motif containing 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2R OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23562820 PMID:23806086 More... NCBI chrNW_004955471:7,523,895...7,698,436
Ensembl chrNW_004955471:7,594,966...7,698,436 		JBrowse link
G R Trim2 tripartite motif-containing 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2R OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23562820 PMID:23806086 More... NCBI chr 2:171,798,654...171,950,193
Ensembl chr 2:169,500,634...169,652,927 		JBrowse link
G M Trim2 tripartite motif-containing 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2R OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23562820 PMID:23806086 More... NCBI chr 3:84,067,746...84,215,659
Ensembl chr 3:84,067,746...84,214,184 		JBrowse link
G H TRIM2 tripartite motif containing 2 IAGP ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2R
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2R 		ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23562820 PMID:23806086 More... NCBI chr 4:153,152,163...153,339,317
Ensembl chr 4:153,152,163...153,339,319 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      musculoskeletal system disease 96321
        neuromuscular disease 33680
          Charcot-Marie-Tooth disease 7379
            Charcot-Marie-Tooth disease type 2 3274
              Charcot-Marie-Tooth disease type 2R 12
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        central nervous system disease 157774
          neurodegenerative disease 56131
            Nervous System Heredodegenerative Disorders 34568
              motor peripheral neuropathy 13240
                Charcot-Marie-Tooth disease 7379
                  Charcot-Marie-Tooth disease type 2 3274
                    Charcot-Marie-Tooth disease type 2R 12
paths to the root