General Information of Disease (ID: DISHT1DZ)

Disease Name Inborn aminoacylase deficiency
Synonyms aminoacylase deficiency; inborn aminoacylase activity disorder; rare inborn error of aminoacylase activity; inborn error of aminoacylase activity
Definition An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity.
Disease Hierarchy
DISD715V: Hereditary neurological disease
DISO5FAY: Inborn error of metabolism
DISHT1DZ: Inborn aminoacylase deficiency
Disease Identifiers
MONDO ID
MONDO_0017686
UMLS CUI
C5681074
MedGen ID
1842952
Orphanet ID
308448