alpha-N-acetylgalactosaminidase deficiency type 1

Go to external page http://purl.obolibrary.org/obo/MONDO_0012221


Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy. [ Orphanet:79279 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:79279 (OMIM:609241)
  • ICD10:E77.1 (Orphanet:79279)
  • OMIM:609241 (Orphanet:79279)
  • GARD:0000116 (MONDO:equivalentTo)
  • GARD:0003903 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_clinical_subtype

closeMatch

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

definition

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.

exactMatch

http://www.orpha.net/ORDO/Orphanet_79279

http://identifiers.org/omim/609241

has exact synonym

NAGA deficiency type 1

Schindler disease type 1

has related synonym

Alpha-N-acetylgalactosaminidase deficiency, type 3

Schindler disease, type I

neuroaxonal dystrophy, Schindler type

Schindler disease type I

N-acetyl-alpha-D-galactosaminidase deficiency type III

alpha-N-acetylgalactosaminidase deficiency, type 1

NAGA deficiency, type 3

Schindler disease, type 3

NAGA deficiency, type 1

Schindler disease, type 1

Alpha-N-acetylgalactosaminidase deficiency, type 1

id

MONDO:0012221