OBO ID: DOID:0110165
Term Name: Charcot-Marie-Tooth disease type 2E Search Ontology:
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:
OTHER Charcot-Marie-Tooth disease type 2E PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NEFL Charcot-Marie-Tooth disease, type 2E 607684
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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