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aminoacylase 1 deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0012368

Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms. [ Orphanet:137754 ]

Synonyms: N-acyl-L-amino acid amidohydrolase deficiency ACY1D aminoacylase 1 deficiency neurological conditions associated with aminoacylase 1 deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C538246 (MONDO:equivalentTo)
  • OMIM:609924 (Orphanet:137754/e)
  • UMLS:C1835922 (Orphanet:137754)
  • EFO:1001981 (MONDO:equivalentTo)
  • GARD:9741 (Orphanet:137754)
  • ICD9:270.8 (MONDO:relatedTo)
  • Orphanet:137754 (OMIM:609924)
  • SCTID:709282004 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985

exactMatch

http://www.orpha.net/ORDO/Orphanet_137754

https://omim.org/entry/609924

http://linkedlifedata.com/resource/umls/id/C1835922

http://identifiers.org/snomedct/709282004

http://identifiers.org/mesh/C538246

has related synonym

deficiency of the aminoacylase-1 enzyme

ACY1 deficiency

id

MONDO:0012368

seeAlso

https://rarediseases.info.nih.gov/diseases/9741/aminoacylase-1-deficiency

https://search.clinicalgenome.org/kb/conditions/MONDO:0012368