Charcot-Marie-Tooth disease axonal type 2X

Summary

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: autosomal recessive axonal Charcot-Marie-Tooth disease type 2X, Charcot-Marie-Tooth neuropathy type 2X

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: spg11

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014726 - Charcot-Marie-Tooth disease axonal type 2X

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): autosomal recessive disease (is_a), Charcot-Marie-Tooth disease type 2 (is_a)