Search Ontology:
Human Disease

Charcot-Marie-Tooth disease recessive intermediate C

Term ID
DOID:0110198
Synonyms
  • autosomal recessive intermediate Charcot-Marie-Tooth disease type C
  • CMTRIC
  • RI-CMT type C
  • RI-CMTC
Definition
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36. https://www.ncbi.nlm.nih.gov/pubmed/23777631
References
Ontology
Human Disease   ( DOID:0110198 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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