OBO ID: DOID:0110187
Term Name: Charcot-Marie-Tooth disease type 4K Search Ontology:
Synonyms:
  • autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K
  • autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K
  • CMT4K
  • SURF1-related Charcot-Marie-Tooth disease type 4
  • SURF1-related CMT4
  • SURF1-related severe demyelinating Charcot-Marie-Tooth disease
Definition: A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/24027061
References:
Ontology: Human Disease   (DOID:0110187)
OTHER Charcot-Marie-Tooth disease type 4K PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SURF1 Charcot-Marie-Tooth disease, type 4K 616684
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None