An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity. [ MONDO:patterns/inborn_metabolic ]

Synonyms: inborn aminoacylase activity disorder rare inborn error of aminoacylase activity inborn error of aminoacylase activity

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:308448 (MONDO:equivalentTo)
  • GARD:21304 (Orphanet:308448)
Subsets

gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6752

exactMatch

http://www.orpha.net/ORDO/Orphanet_308448

has related synonym

aminoacylase deficiency

id

MONDO:0017686