OBO ID: DOID:0110200
Term Name: Charcot-Marie-Tooth disease dominant intermediate D Search Ontology:
Synonyms:
  • autosomal dominant intermediate Charcot-Marie-Tooth disease type D
  • Charcot-Marie-Tooth neuropathy dominant intermediate D
  • CMTDID
  • DI-CMTD
Definition: A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. https://www.ncbi.nlm.nih.gov/pubmed/10406984
References:
Ontology: Human Disease   ( DOID:0110200 )
OTHER Charcot-Marie-Tooth disease dominant intermediate D PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MPZ Charcot-Marie-Tooth disease, dominant intermediate D 607791
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None