Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive 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:83330 ]

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:64383006 (MONDO:equivalentTo)
  • NCIT:C98670 (MONDO:equivalentTo)
  • DOID:0060160 (MONDO:equivalentTo)
  • ICD10:G12.0 (Orphanet:83330)
  • COHD:372616 (MONDO:equivalentTo)
  • GARD:0007883 (Orphanet-shared)
  • ICD9:335.11 (MONDO:superClassOf)
  • DOID:13137 (MONDO:equivalentTo)
  • OMIM:253300 (Orphanet:83330)
  • Orphanet:83330 (OMIM:253300)
  • ICD9:335.0 (i2s)
Subsets

ordo_clinical_subtype

abbreviation
SMA1 [ https://omim.org/entry/253300 Orphanet:83330 MONDO:Lexical ]

closeMatch

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

http://identifiers.org/mesh/D014897

http://identifiers.org/snomedct/155016008

http://linkedlifedata.com/resource/umls/id/C0393538

http://linkedlifedata.com/resource/umls/id/C0043116

http://identifiers.org/snomedct/267694009

definition

Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive 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://purl.obolibrary.org/obo/NCIT_C98670

http://identifiers.org/snomedct/64383006

http://identifiers.org/omim/253300

http://purl.obolibrary.org/obo/DOID_0060160

http://purl.obolibrary.org/obo/DOID_13137

http://www.orpha.net/ORDO/Orphanet_83330

has exact synonym

infantile muscular atrophy

survival motor neuron spinal muscular atrophy

SMA type 1

SMA1

SMA type I

severe infantile spinal muscular atrophy

SMA-I

HMN (hereditary motor neuropathy) proximal type I

spinal muscular atrophies of childhood

Werdnig-Hoffmann disease

hereditary motor neuropathy proximal type I

progressive muscular atrophy of infancy

infantile spinal muscular atrophy

has related synonym

spinal muscular atrophy, type I

muscular atrophy, infantile

Werdnig-Hoffman disease

proximal spinal muscular atrophy, type 1

spinal muscular atrophy 1

Werdnig Hoffmann disease

Sma, infantile acute form

Sma 1

proximal spinal muscular atrophy type 1

id

MONDO:0009669