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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 2A2B
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Accession:DOID:0111557 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in MFN2 on chromosome 1p36.22. (DO)
Synonyms:exact_synonym: AR-CMT2, Ouvrier type;   CMT2A2B;   SEOAN due to MFN2 deficiency;   autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type;   axonal Charcot-Marie-Tooth disease, autosomal recessive, type 2A2B;   axonal Charcot-Marie-Tooth disease, type 2A2B;   severe early-onset axonal neuropathy due to MFN2 deficiency
 narrow_synonym: axonal Charcot-Marie-Tooth disease, type 2A2, autosomal recessive
 primary_id: OMIM:617087
 xref: ORDO:90118
For additional species annotation, visit the Alliance of Genome Resources.



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Charcot-Marie-Tooth disease type 2A2B 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, axonal, autosomal recessive, type 2A2B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2A2B | ClinVar Annotator: match by term: Severe early-onset axonal neuropathy due to MFN2 deficiency OMIM
ClinVar
PMID:16835246 PMID:18316077 PMID:18425620 PMID:18458227 PMID:18946002 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 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                Charcot-Marie-Tooth disease type 2A2B 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        central nervous system disease 11323
          neurodegenerative disease 3902
            Nervous System Heredodegenerative Disorders 2394
              motor peripheral neuropathy 683
                Charcot-Marie-Tooth disease 428
                  Charcot-Marie-Tooth disease type 2 165
                    Charcot-Marie-Tooth Disease, Type 2A 2
                      Charcot-Marie-Tooth Disease Type 2A2 1
                        Charcot-Marie-Tooth disease type 2A2B 1
paths to the root