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Summary Literature (0)
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,

Xenbase Genes : spg11

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014726 - Charcot-Marie-Tooth disease axonal type 2X


Other Model Organisms: Alliance, 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), autosomal recessive disease (is_a)