Search Ontology:
Human Disease

Charcot-Marie-Tooth disease axonal type 2X

Term ID
DOID:0110176
Synonyms
  • autosomal recessive axonal Charcot-Marie-Tooth disease type 2X
  • Charcot-Marie-Tooth neuropathy type 2X
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21. https://www.ncbi.nlm.nih.gov/pubmed/26556829
References
Ontology
Human Disease   ( DOID:0110176 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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