DO_rare_slim has material basis in has symptom autosomal recessive distal hereditary motor neuronopathy 2 UMLS_CUI:C1854023 GARD:10133 disease_ontology A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13. MIM:605726 DOID:0111065 DSMA2 MESH:C535715 ORDO:139552 SNOMEDCT_US_2025_09_01:763533003 autosomal recessive distal spinal muscular atrophy 2 dHMNJ distal hereditary motor neuropathy Jerash type distal spinal muscular atrophy 2 spinal muscular atrophy Jerash type autosomal recessive distal hereditary motor neuronopathy autosomal recessive inheritance muscle weakness