|
DOID:0111064 - distal spinal muscular atrophy 1
Disease Ontology Definition:A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.
Synonyms: DSMA1, SIANRF, SMARD1, autosomal recessive distal spinal muscular atrophy 1, autosomal recessive spinal muscular atrophy with respiratory distress, dHMN6, diaphragmatic spinal muscular atrophy, distal hereditary motor neuropathy type 6, distal-HMN type 6, severe infantile axonal neuropathy with respiratory failure type 1, spinal muscular atrophy with respiratory distress type 1,
Echinobase Genes : ighmbp2
MIM:604320 - spinal muscular atrophy, distal, autosomal recessive, 1; dsma1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
spinal muscular atrophy (is_a)