OBO ID: DOID:0110157
Term Name: Charcot-Marie-Tooth disease type 2J Search Ontology:
Synonyms:
  • Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities
  • Charcot-Marie-Tooth neuropathy type 2J
  • CMT2J
Definition: A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. https://www.ncbi.nlm.nih.gov/pubmed/10071056
References:
Ontology: Human Disease   ( DOID:0110157 )
OTHER Charcot-Marie-Tooth disease type 2J PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MPZ Charcot-Marie-Tooth disease, type 2J 607736
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None