JSON

prenatal-onset spinal muscular atrophy with congenital bone fractures

^ http://purl.obolibrary.org/obo/MONDO_0000209


Term info

database cross reference
  • Orphanet:486811 (MONDO:equivalentTo)
  • OMIMPS:616866 (MONDO:equivalentTo)
  • UMLS:CN238807 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
SMABF [ Orphanet:486811 ]

exactMatch

http://linkedlifedata.com/resource/umls/id/CN238807, https://omim.org/phenotypicSeries/PS616866, http://purl.obolibrary.org/obo/Orphanet_486811

has exact synonym

spinal muscular atrophy with congenital bone fractures, SMABF

id

MONDO:0000209