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Summary Literature (0)
DOID:0111065 - distal spinal muscular atrophy 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, spinal muscular atrophy Jerash type

Xenbase Genes : rax2, sigmar1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011585 - autosomal recessive distal spinal muscular atrophy 2

OMIM:
OMIM:605726 - SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2; DSMA2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): spinal muscular atrophy (is_a)