JSON

proximal spinal muscular atrophy

^ http://purl.obolibrary.org/obo/MONDO_0019079

Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. [ Orphanet:70 ]

Term info

database cross reference
  • Orphanet:70 (MONDO:equivalentTo)
  • EFO:0008929 (MONDO:equivalentTo)
  • UMLS:C4024957 (MONDO:equivalentTo)
  • GARD:0004531 (MONDO:equivalentTo)
  • UMLS:CN205570 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

abbreviation
SMA [ Orphanet:70 ]

definition

Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

exactMatch

http://linkedlifedata.com/resource/umls/id/C4024957, http://purl.obolibrary.org/obo/Orphanet_70, http://linkedlifedata.com/resource/umls/id/CN205570

id

MONDO:0019079

seeAlso

https://rarediseases.info.nih.gov/diseases/4531/proximal-spinal-muscular-atrophy