FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Charcot-Marie-Tooth disease axonal type 2JJ ID (Ontology) DOID:0051043 (Human Disease)
Definition A Charcot-Marie-Tooth disease type 2 that is characterized by adult onset of distal sensory impairment and distal muscle weakness and atrophy predominantly affecting the lower limbs and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26.
Also Known As "axonal Charcot-Marie-Tooth disease type 2JJ"
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 Genes
 Charcot-Marie-Tooth disease axonal type 2JJ       1
 for disease ribbon | Charcot-Marie-Tooth disease axonal type 2JJ       1
 model of | Charcot-Marie-Tooth disease axonal type 2JJ       1
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autosomal genetic disease
 |__autosomal dominant disease__________
Charcot-Marie-Tooth disease             |
 |__Charcot-Marie-Tooth disease type 2__|
                                        Charcot-Marie-Tooth disease axonal type 2JJ  1 rec.
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Is a Charcot-Marie-Tooth disease type 2
autosomal dominant disease
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Synonyms
  • "axonal Charcot-Marie-Tooth disease type 2JJ" EXACT
Secondary IDs
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MIM:621095