OBO ID: DOID:0110163
Term Name: Charcot-Marie-Tooth disease axonal type 2F Search Ontology:
Synonyms:
  • autosomal dominant Charcot-Marie-Tooth disease type 2F
  • Charcot-Marie-Tooth neuronal type 2F
  • Charcot-Marie-Tooth neuropathy type 2F
  • CMT2F
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1). https://www.ncbi.nlm.nih.gov/pubmed/15122254
References:
Ontology: Human Disease   ( DOID:0110163 )
Relationships
is a type of:
OTHER Charcot-Marie-Tooth disease axonal type 2F PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HSPB1 Charcot-Marie-Tooth disease, axonal, type 2F 606595
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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