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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C4024957 (MONDO:equivalentTo)
  • EFO:0008929 (MONDO:equivalentTo)
  • ICD10:G12.1 (Orphanet:70)
  • UMLS:CN205570 (MONDO:equivalentTo)
  • GARD:0004531 (MONDO:equivalentTo)
  • Orphanet:70 (MONDO:equivalentTo)
  • ICD10:G12.0 (Orphanet:70)
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://linkedlifedata.com/resource/umls/id/CN205570

http://www.orpha.net/ORDO/Orphanet_70

id

MONDO:0019079

seeAlso

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