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alpha-N-acetylgalactosaminidase deficiency type 2

Go to external page http://purl.obolibrary.org/obo/MONDO_0012222

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy. [ Orphanet:79280 ]

Synonyms: Kanzaki disease adult-onset Alpha-N-acetylgalactosaminidase deficiency Schindler disease type 2 NAGA deficiency type 2

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:609242 (Orphanet:79280/e)
  • MEDGEN:324539 (MONDO:equivalentTo)
  • UMLS:C1836522 (MONDO:equivalentTo)
  • GARD:9161 (MONDO:GARD)
  • NANDO:1200136 (https://orcid.org/0000-0003-0011-764X)
  • DOID:0112319 (MONDO:equivalentTo)
  • Orphanet:79280 (OMIM:609242)
Subsets

gard_rare, otar, rare, ordo_subtype_of_a_disorder, nord_rare

exactMatch

http://linkedlifedata.com/resource/umls/id/C1836522

http://purl.obolibrary.org/obo/DOID_0112319

https://omim.org/entry/609242

http://identifiers.org/medgen/324539

http://www.orpha.net/ORDO/Orphanet_79280

has related synonym

Alpha-N-acetylgalactosaminidase deficiency, type 2

Alpha-N-acetylgalactosaminidase deficiency adult onset

Naga deficiency, type 2

Schindler disease, type 2

KANZAKI disease

Alpha-N-acetylgalactosaminidase deficiency, adult-onset

id

MONDO:0012222