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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 ]

Synonyms: Schindler disease NAGA deficiency alpha-N-acetylgalactosaminidase activity disease disorder of alpha-N-acetylgalactosaminidase activity

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0112317 (MONDO:equivalentTo)
  • Orphanet:3137 (MONDO:equivalentTo)
  • GARD:16621 (MONDO:GARD)
  • NORD:1693 (MONDO:NORD)
  • ICD9:277.89 (MONDO:relatedTo)
  • NANDO:1200134 (https://orcid.org/0000-0003-0011-764X)
  • SCTID:238048001 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://identifiers.org/snomedct/238048001

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

http://purl.obolibrary.org/obo/DOID_0112317

id

MONDO:0017779

Term relations

Subclass of: