Search Ontology:
Human Disease

Charcot-Marie-Tooth disease dominant intermediate D

Term ID
DOID:0110200
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 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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