spinal muscular atrophy with lower extremity predominant

Summary

DOID:0070348 - spinal muscular atrophy with lower extremity predominant

Disease Ontology Definition:A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles.

Synonyms: spinal muscular atrophy with lower extremity predominance,

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

: dync1h1, bicd2l, bicd2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), spinal muscular atrophy (is_a)