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 2P ID (Ontology) DOID:0110169 (Human Disease)
Definition A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33.
Also Known As "Charcot-Marie-Tooth disease type 2P" ; "Charcot-Marie-Tooth neuropathy type 2P" ; "CMT2P"
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autosomal genetic disease
 |__autosomal dominant disease__________
 |__autosomal recessive disease_________|
Charcot-Marie-Tooth disease             |
 |__Charcot-Marie-Tooth disease type 2__|
                                        Charcot-Marie-Tooth disease axonal type 2P
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Is a Charcot-Marie-Tooth disease type 2
autosomal dominant disease
autosomal recessive disease
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Synonyms
  • "Charcot-Marie-Tooth disease type 2P" EXACT
    "Charcot-Marie-Tooth neuropathy type 2P" EXACT
    "CMT2P" EXACT OMO:0003012
Secondary IDs
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GARD:12435
ICD10CM:G60.0
MIM:614436
ORDO:300319