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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:E77.1 (Orphanet:79280)
  • GARD:0009161 (Orphanet-shared)
  • Orphanet:79280 (OMIM:609242)
  • OMIM:609242 (Orphanet:79280)
  • UMLS:C1836522 (Orphanet:79280)
Subsets

ordo_clinical_subtype

definition

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.

exactMatch

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

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

http://identifiers.org/omim/609242

has exact synonym

Kanzaki disease

Schindler disease type 2

adult-onset Alpha-N-acetylgalactosaminidase deficiency

NAGA deficiency type 2

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