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spinal muscular atrophy with respiratory distress type 2

^ http://purl.obolibrary.org/obo/MONDO_0018450

Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene. [ Orphanet:404521 ]

Term info

database cross reference
  • UMLS:CN226195 (MONDO:equivalentTo)
  • Orphanet:404521 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
SMARD2 [ Orphanet:404521 ]

definition

Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN226195, http://purl.obolibrary.org/obo/Orphanet_404521

has exact synonym

severe infantile axonal neuropathy with respiratory failure type 2, SMARD2, diaphragmatic spinal muscular atrophy type 2, X-linked spinal muscular atrophy with respiratory distress

id

MONDO:0018450

Term relations