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 2Z ID (Ontology) DOID:0110181 (Human Disease)
Definition A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12.
Also Known As "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z" ; "Charcot-Marie-Tooth neuropathy type 2Z" ; "CMT2Z"
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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 2Z
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Is a Charcot-Marie-Tooth disease type 2
autosomal dominant disease
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Synonyms
  • "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z" EXACT
    "Charcot-Marie-Tooth neuropathy type 2Z" EXACT
    "CMT2Z" EXACT OMO:0003012
Secondary IDs
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MIM:616688
ORDO:466768