Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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 2A2
go back to main search page
Accession:DOID:9004551 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 1p36.2. (DO)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A2;   CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A2;   CMT2A2;   Charcot-Marie-Tooth Disease, Axonal, Type 2A2;   Charcot-Marie-Tooth Disease, Neuronal, Type 2A2;   Charcot-Marie-Tooth disease type 2A2;   Charcot-Marie-Tooth neuronal type 2A2;   Charcot-Marie-Tooth neuropathy type 2A2;   HMSN IIA2;   HMSN2A2;   HMSNIIA2;   hereditary motor and sensory neuropathy 2A2;   hereditary motor and sensory neuropathy IIA2
 primary_id: MESH:C563757
 xref: ORDO:99947

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
Charcot-Marie-Tooth Disease Type 2A2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 ClinVar PMID:7977350 PMID:8526465 PMID:8981948 PMID:21208200 PMID:21494555 More... NCBI chrNW_004955435:19,537,224...19,563,631
Ensembl chrNW_004955435:19,536,634...19,564,580 		JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2A2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 ClinVar PMID:23141293 PMID:23141294 PMID:25326637 PMID:25741868 PMID:25860818 More... NCBI chrNW_004955462:103,501...163,472
Ensembl chrNW_004955462:103,598...162,344 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2A2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 ClinVar PMID:8406488 PMID:9409358 PMID:10732809 PMID:11148244 PMID:12601114 More... NCBI chrNW_004955486:1,937,873...1,962,577
Ensembl chrNW_004955486:1,937,802...1,962,772 		JBrowse link
Charcot-Marie-Tooth disease type 2A2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A ClinVar PMID:23141293 PMID:25326637 PMID:25741868 PMID:25860818 PMID:26141459 More... NCBI chrNW_004955462:103,501...163,472
Ensembl chrNW_004955462:103,598...162,344 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A2A OMIM
ClinVar		 PMID:8406488 PMID:9409358 PMID:10732809 PMID:15064763 PMID:15549395 More... NCBI chrNW_004955486:1,937,873...1,962,577
Ensembl chrNW_004955486:1,937,802...1,962,772 		JBrowse link
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:8406488 PMID:9409358 PMID:15064763 PMID:15549395 PMID:16043786 More... NCBI chrNW_004955486:1,937,873...1,962,577
Ensembl chrNW_004955486:1,937,802...1,962,772 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      musculoskeletal system disease 7251
        neuromuscular disease 2848
          Charcot-Marie-Tooth disease 627
            Charcot-Marie-Tooth disease type 2 249
              Charcot-Marie-Tooth Disease, Type 2A 5
                Charcot-Marie-Tooth Disease Type 2A2 3
                  Charcot-Marie-Tooth disease type 2A2A 2
                  Charcot-Marie-Tooth disease type 2A2B 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          neurodegenerative disease 4401
            Nervous System Heredodegenerative Disorders 3017
              motor peripheral neuropathy 1148
                Charcot-Marie-Tooth disease 627
                  Charcot-Marie-Tooth disease type 2 249
                    Charcot-Marie-Tooth Disease, Type 2A 5
                      Charcot-Marie-Tooth Disease Type 2A2 3
                        Charcot-Marie-Tooth disease type 2A2A 2
                        Charcot-Marie-Tooth disease type 2A2B 1
paths to the root