OBO ID: DOID:0110179
Term Name: Charcot-Marie-Tooth disease type 2B2 Search Ontology:
Synonyms:
  • AR-CMT2B2
  • ARCMT2B
  • autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2
  • Autosomal recessive axonal CMT4C3
  • Charcot-Marie-Tooth disease neuronal type 2B2
  • Charcot-Marie-Tooth neuropathy type 2B2
  • CMT2B2
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene. https://www.ncbi.nlm.nih.gov/pubmed/19290556
References:
Ontology: Human Disease   (DOID:0110179)
OTHER Charcot-Marie-Tooth disease type 2B2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PNKP ?Charcot-Marie-Tooth disease, type 2B2 605589
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None