spinal muscular atrophy with lower extremity predominant 1

Summary

DOID:0070351 - spinal muscular atrophy with lower extremity predominant 1

Disease Ontology Definition:A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.

Synonyms: spinal muscular atrophy with lower extremity predominance 1

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

MIM:

MIM:158600 - SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT; SMALED1

MIM:158600 - SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT; SMALED1

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

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

Parent(s): spinal muscular atrophy with lower extremity predominant (is_a)