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DOID:0110176 - Charcot-Marie-Tooth disease axonal type 2X
Disease Ontology 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.
Synonyms: Charcot-Marie-Tooth neuropathy type 2X, autosomal recessive axonal Charcot-Marie-Tooth disease type 2X,
Echinobase Genes :
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Charcot-Marie-Tooth disease type 2 (is_a)