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Summary Literature (0)
DOID:0111205 - autosomal dominant distal hereditary motor neuronopathy 12


Disease Ontology Definition:An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2.

Synonyms: distal HMN VB, distal hereditary motor neuronopathy type 5B, distal spinal muscular atrophy type VB,

Xenbase Genes : reep1



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant distal hereditary motor neuronopathy (is_a)