JSON

free sialic acid storage disease

Go to external page http://purl.obolibrary.org/obo/MONDO_0019366

Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD). [ Orphanet:834 ]

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:CN206051 (MONDO:equivalentTo)
  • UMLS:C2931872 (Orphanet:834)
  • MedDRA:10067529 (Orphanet:834)
  • Orphanet:834 (MONDO:equivalentTo)
  • GARD:0010870 (Orphanet-shared)
  • MESH:C538523 (Orphanet:834)
  • ICD10:E77.8 (Orphanet:834)
  • MedDRA:10067531 (Orphanet:834)
Subsets

ordo_disease

closeMatch

http://linkedlifedata.com/resource/umls/id/C0342853

definition

Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).

exactMatch

http://www.orpha.net/ORDO/Orphanet_834

http://identifiers.org/meddra/10067531

http://linkedlifedata.com/resource/umls/id/CN206051

http://linkedlifedata.com/resource/umls/id/C2931872

http://identifiers.org/mesh/C538523

http://identifiers.org/meddra/10067529

id

MONDO:0019366