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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 neurologic disorder characterized by onset of peripheral neuropathy in the first years of life. Patients have difficulty walking due to distal muscle weakness; upper limbs may also be affected. Sensory impairment is more variable. Patients often have optic atrophy. (OMIM)
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, autosomal recessive, type 2A2B
ClinVar
OMIM
PMID:15549395 PMID:16043786 PMID:16835246 PMID:18316077 PMID:18425620 PMID:18458227 PMID:18946002 PMID:18957892 PMID:19812251 PMID:20008656 PMID:20350294 PMID:20482598 PMID:21326314 PMID:21531138 PMID:21715711 PMID:21840889 PMID:22492563 PMID:23806086 PMID:24033266 PMID:24088041 PMID:24126688 PMID:24803844 PMID:24957169 PMID:25025039 PMID:25741868 PMID:26085578 PMID:26114802 PMID:26257172 PMID:26307494 PMID:26382835 PMID:26633545 PMID:28251916 PMID:28414270 PMID:28492532 PMID:28660751 PMID:29358271 PMID:30158064 PMID:30311386 PMID:32214227 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 recessive disease 2628
                Charcot-Marie-Tooth disease type 2A2B 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 2A2B 1
paths to the root