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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 More... NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17427
    Developmental Disease 11128
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9663
        genetic disease 9069
          monogenic disease 7223
            autosomal genetic disease 6350
              autosomal dominant disease 4486
                Charcot-Marie-Tooth disease type 2A2A 1
Path 2
Term Annotations click to browse term
  disease 17427
    disease of anatomical entity 16758
      nervous system disease 12204
        central nervous system disease 10473
          neurodegenerative disease 3533
            Nervous System Heredodegenerative Disorders 2138
              motor peripheral neuropathy 506
                Charcot-Marie-Tooth disease 331
                  Charcot-Marie-Tooth disease type 2 67
                    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