"A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21."^^ . "autosomal recessive axonal Charcot-Marie-Tooth disease type 2X"@en . "ORDO:466775"^^ . "OMIM:616668"^^ . _:vb50942638 . "Charcot-Marie-Tooth neuropathy type 2X"@en . _:vb50942638 . _:vb50942638 . . "disease_ontology"^^ . _:vb50942638 . . . . _:vb50942638 . "Charcot-Marie-Tooth disease axonal type 2X"^^ . "DOID:0110176"^^ .