A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes.
ID
http://purl.bioontology.org/ontology/MESH/D020140
altLabel
Nervous System Lysosomal Enzyme Disorders
Nervous System Lysosomal Storage Diseases
Lysosomal Enzyme Disorders, Nervous System
AN
general or unspecified; prefer specifics
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
C0751738
DC
1
definition
A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes.