Search Ontology:
Human Disease

Charcot-Marie-Tooth disease type 4C

Term ID
DOID:0110183
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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