OBO ID: DOID:0110180
Term Name: Charcot-Marie-Tooth disease axonal type 2CC Search Ontology:
Synonyms:
  • Charcot-Marie-Tooth neuropathy type 2CC
  • CMT2CC
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12. https://www.ncbi.nlm.nih.gov/pubmed/27040688
References:
Ontology: Human Disease   ( DOID:0110180 )
Relationships
is a type of:
OTHER Charcot-Marie-Tooth disease axonal type 2CC PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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