OBO ID: DOID:0110167
Term Name: Charcot-Marie-Tooth disease axonal type 2K Search Ontology:
Synonyms:
  • ARCMT2K
  • autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K
  • autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
  • autosomal recessive axonal CMT4C4
  • autosomal recessive Charcot-Marie-Tooth disease with hoarseness
  • Charcot-Marie-Tooth neuropathy axonal type 2K
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q. https://www.ncbi.nlm.nih.gov/pubmed/12707075
References:
Ontology: Human Disease   (DOID:0110167)
OTHER Charcot-Marie-Tooth disease axonal type 2K PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GDAP1 Charcot-Marie-Tooth disease, axonal, type 2K 607831
JPH1 ?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K 607831
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None