Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
ID
http://purl.bioontology.org/ontology/MESH/D016464
altLabel
Lysosomal Storage Disease
Enzyme Disorder, Lysosomal
Disorders, Lysosomal Enzyme
Lysosomal Enzyme Disorders
Disorder, Lysosomal Enzyme
Lysosomal Enzyme Disorder
Diseases, Lysosomal Storage
Disease, Lysosomal Storage
Enzyme Disorders, Lysosomal
AN
an inborn error of metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
AQL
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui
C0085078
DC
1
definition
Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
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