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Human Disease

Charcot-Marie-Tooth disease type 2E

Term ID
DOID:0110165
Synonyms
  • autosomal dominant Charcot-Marie-Tooth disease type 2E
  • Charcot-Marie-Tooth neuropathy type 2E
  • CMT2E
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21. (2)
References
Ontology
Human Disease   ( DOID:0110165 )
Relationships
is a type of
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Genes Involved
Zebrafish Models