autosomal recessive distal hereditary motor neuronopathy 2

Summary

DOID:0111065 - autosomal recessive distal hereditary motor neuronopathy 2

Disease Ontology Definition: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.

Synonyms: DSMA2, autosomal recessive distal spinal muscular atrophy 2, dHMNJ, distal hereditary motor neuropathy Jerash type, distal spinal muscular atrophy 2, spinal muscular atrophy Jerash type,

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

: rax2, sigmar1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011585 - autosomal recessive distal spinal muscular atrophy 2

MONDO:0011585 - autosomal recessive distal spinal muscular atrophy 2

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

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

Parent(s): autosomal recessive distal hereditary motor neuronopathy (is_a), spinal muscular atrophy (is_a)