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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 2A2A
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Accession:DOID:0110155 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22. (DO)
Synonyms:exact_synonym: CMT2A2A;   autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2;   autosomal dominant axonal Charcot-Marie-Tooth disease, type 2A2A
 primary_id: OMIM:609260
 xref: NCI:C150646
For additional species annotation, visit the Alliance of Genome Resources.


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Charcot-Marie-Tooth disease type 2A2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A2A
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
OMIM
ClinVar
PMID:8406488 PMID:9333264 PMID:9409358 PMID:10732809 PMID:11148244 PMID:12601114 PMID:15064763 PMID:15136675 PMID:15549395 PMID:16043786 PMID:16087932 PMID:16437557 PMID:16714318 PMID:16762064 PMID:16835246 PMID:17215403 PMID:17296794 PMID:17309650 PMID:17437620 PMID:18316077 PMID:18425620 PMID:18458227 PMID:18602827 PMID:18946002 PMID:18957892 PMID:18996695 PMID:19350291 PMID:19812251 PMID:19889647 PMID:20008656 PMID:20301684 PMID:20335458 PMID:20350294 PMID:20418531 PMID:20482598 PMID:20530328 PMID:20587496 PMID:20951041 PMID:21149811 PMID:21258814 PMID:21285398 PMID:21326314 PMID:21508331 PMID:21519004 PMID:21531138 PMID:21576112 PMID:21707411 PMID:21715711 PMID:21772703 PMID:21840889 PMID:21987543 PMID:22206013 PMID:22442078 PMID:22492563 PMID:22851605 PMID:22926664 PMID:23806086 PMID:24033266 PMID:24053775 PMID:24088041 PMID:24126688 PMID:24450158 PMID:24473995 PMID:24604904 PMID:24627108 PMID:24803844 PMID:24819634 PMID:24862862 PMID:24863639 PMID:24957169 PMID:25025039 PMID:25403865 PMID:25448007 PMID:25614874 PMID:25741868 PMID:25802885 PMID:25957633 PMID:26085578 PMID:26114802 PMID:26143526 PMID:26230519 PMID:26257172 PMID:26307494 PMID:26378787 PMID:26382835 PMID:26392352 PMID:26467025 PMID:26633545 PMID:26686600 PMID:26801520 PMID:27025386 PMID:27027447 PMID:27088055 PMID:27265096 PMID:27549087 PMID:27582484 PMID:27862672 PMID:27863451 PMID:28063088 PMID:28215760 PMID:28251916 PMID:28286897 PMID:28380071 PMID:28414270 PMID:28492532 PMID:28660751 PMID:29341354 PMID:29358271 PMID:29361379 PMID:29473246 PMID:29898954 PMID:30158064 PMID:30311386 PMID:30882371 PMID:31188717 PMID:32963807 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                Charcot-Marie-Tooth disease type 2A2A 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 2 63
                    Charcot-Marie-Tooth Disease, Type 2A 2
                      Charcot-Marie-Tooth Disease Type 2A2 1
                        Charcot-Marie-Tooth disease type 2A2A 1
paths to the root