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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:11181170, PMID:15064763, PMID:15549395, PMID:16043786, PMID:16087932, PMID:16437557, PMID:16714318, PMID:16835246, PMID:18425620, PMID:18458227, PMID:18946002, PMID:18957892, PMID:19812251, PMID:20008656, PMID:20350294, PMID:21326314, PMID:21531138, PMID:21715711, PMID:21840889, PMID:22492563, PMID:23806086, PMID:24018473, PMID:24033266, PMID:24088041, PMID:24126688, PMID:24957169, PMID:25025039, PMID:25741868, PMID:26085578, PMID:26114802, PMID:26143526, PMID:26257172, PMID:26306937, 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 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                Charcot-Marie-Tooth disease type 2A2B 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          neurodegenerative disease 3186
            Nervous System Heredodegenerative Disorders 1947
              motor peripheral neuropathy 537
                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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.