JSON

autosomal dominant childhood-onset proximal spinal muscular atrophy

^ http://purl.obolibrary.org/obo/MONDO_0018190

Term info

database cross reference
  • UMLS:CN227282 (MONDO:equivalentTo)
  • OMIMPS:158600 (MONDO:equivalentTo)
  • Orphanet:363447 (MONDO:equivalentTo)
  • DOID:0070348 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
SMALED [ Orphanet:363447 ]

exactMatch

https://omim.org/phenotypicSeries/PS158600, http://purl.obolibrary.org/obo/DOID_0070348, http://linkedlifedata.com/resource/umls/id/CN227282, http://purl.obolibrary.org/obo/Orphanet_363447

has exact synonym

lower extremity-predominant autosomal dominant proximal spinal muscular atrophy, SMALED

has related synonym

spinal muscular atrophy, lower extremity-predominant

id

MONDO:0018190