OBO ID: DOID:0111559
Term Name: Charcot-Marie-Tooth disease type 2EE Search Ontology:
Synonyms:
  • Charcot-Marie-Tooth disease, axonal, type 2EE
  • CMT2EE
Definition: A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in MPV17 on chromosome 2p23.3. (2)
References:
Ontology: Human Disease   (DOID:0111559)
OTHER Charcot-Marie-Tooth disease type 2EE PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MPV17 Charcot-Marie-Tooth disease, axonal, type 2EE 618400
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None