Search Ontology:
Human Disease

Charcot-Marie-Tooth disease type 2J

Term ID
DOID:0110157
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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