Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. [ Orphanet:83419 ]

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:12376 (MONDO:equivalentTo)
  • COHD:374634 (MONDO:equivalentTo)
  • ICD9:335.11 (i2s)
  • UMLS:C0152109 (Orphanet:83419)
  • ICD10:G12.1 (Orphanet:83419)
  • UMLS:C0700595 (MONDO:equivalentTo)
  • Orphanet:83419 (OMIM:253400)
  • GARD:0000198 (MONDO:equivalentTo)
  • NCIT:C118847 (MONDO:equivalentTo)
  • OMIM:253400 (Orphanet:83419)
  • SCTID:54280009 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_clinical_subtype

abbreviation
KWS [ GARD:0000198 ]

abbreviation
SMA3 [ Orphanet:83419 https://omim.org/entry/253400 MONDO:Lexical DOID:12376 GARD:0000198 ]

closeMatch

http://identifiers.org/mesh/D014897

http://purl.obolibrary.org/obo/NCIT_C85076

definition

Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

exactMatch

http://www.orpha.net/ORDO/Orphanet_83419

http://identifiers.org/omim/253400

http://linkedlifedata.com/resource/umls/id/C0152109

http://identifiers.org/snomedct/54280009

http://linkedlifedata.com/resource/umls/id/C0700595

http://purl.obolibrary.org/obo/NCIT_C118847

http://purl.obolibrary.org/obo/DOID_12376

has exact synonym

pediatric spinal muscular atrophy

type III spinal muscular atrophy

SMA3

juvenile spinal muscular atrophy

SMA type 3

SMA-III

spinal muscular atrophy of childhood

SMA type III

spinal muscular atrophy, familial

childhood spinal muscular atrophy

spinal muscular atrophy III

spinal muscular atrophy type 3

Kugelberg-Welander disease

has related synonym

spinal muscular atrophy, type III

Kugelberg-Welander syndrome

KWS

spinal muscular atrophy, mild childhood and adolescent form

muscular atrophy, juvenile

Sma 3

SMA 3

spinal muscular atrophy, type 3

proximal spinal muscular atrophy type 3

id

MONDO:0009672

Term relations