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DOID:0111208 - distal hereditary motor neuronopathy type 2A
Disease Ontology Definition:A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in HSPB8 on 12q24.23.
Synonyms: HMN IIA, HMN2A, autosomal dominant adult spinal muscular atrophy IIA, distal hereditary motor neuropathy type IIA, spinal Charcot-Marie-Tooth disease IIA,
Echinobase Genes :
MIM:158590 - neuronopathy, distal hereditary motor, type iia; hmn2a |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee