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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 ]

Synonyms: NAGA deficiency type 1 Schindler disease, type III Schindler disease type 1

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C1836544 (MONDO:equivalentTo)
  • Orphanet:79279 (OMIM:609241)
  • MEDGEN:373113 (MONDO:equivalentTo)
  • GARD:116 (MONDO:GARD)
  • OMIM:609241 (Orphanet:79279/e)
  • NANDO:1200135 (https://orcid.org/0000-0003-0011-764X)
  • DOID:0112318 (MONDO:equivalentTo)
Subsets

gard_rare, otar, rare, ordo_subtype_of_a_disorder, nord_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

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

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

http://identifiers.org/medgen/373113

https://omim.org/entry/609241

http://purl.obolibrary.org/obo/DOID_0112318

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