OBO ID: DOID:0110183
Term Name: Charcot-Marie-Tooth disease type 4C Search Ontology:
Synonyms:
  • autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C
  • Charcot-Marie-Tooth neuropathy type 4C
  • CMT4C
Definition: A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene. https://www.ncbi.nlm.nih.gov/pubmed/14574644
References:
Ontology: Human Disease   (DOID:0110183)
OTHER Charcot-Marie-Tooth disease type 4C PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SH3TC2 Charcot-Marie-Tooth disease, type 4C 601596
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None