autosomal dominant distal hereditary motor neuronopathy 12

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

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

: 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)