alpha-N-acetylgalactosaminidase deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0017779


Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity. [ Orphanet:3137 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:3137 (MONDO:equivalentTo)
  • SCTID:238048001 (MONDO:equivalentTo)
  • ICD9:277.89 (i2s)
  • ICD10:E77.1 (Orphanet:3137)
Subsets

ordo_disease

closeMatch

http://linkedlifedata.com/resource/umls/id/C1836544

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/basis_in_disruption_of_process.yaml

http://purl.obolibrary.org/obo/mondo/patterns/disrupts_process.yaml

definition

Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.

exactMatch

http://identifiers.org/snomedct/238048001

http://www.orpha.net/ORDO/Orphanet_3137

http://linkedlifedata.com/resource/umls/id/C0342850

has exact synonym

Schindler disease

NAGA deficiency

disorder of alpha-N-acetylgalactosaminidase activity

alpha-N-acetylgalactosaminidase activity disease

id

MONDO:0017779