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Human Disease

Charcot-Marie-Tooth disease axonal type 2Z

Term ID
DOID:0110181
Synonyms
  • autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z
  • Charcot-Marie-Tooth neuropathy type 2Z
  • CMT2Z
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12. https://www.ncbi.nlm.nih.gov/pubmed/26497905
References
Ontology
Human Disease   ( DOID:0110181 )
Relationships
is a type of
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Genes Involved
Zebrafish Models