A group of autosomal recessive or X-linked inherited metabolic disorders caused by defects in the function of the lysosomes. Signs and symptoms include hepatomegaly, splenomegaly, nervous system manifestations, skeletal abnormalities, and mental deterioration. Representative examples include Gaucher disease, Niemann-Pick disease, Wolman disease, and Fabry disease. [ NCI ]

Synonyms: Lysosomal Storage Disorder Disorder of Lysosomal Enzymes PHOSPHOLIPIDOSIS Lysosomal Storage Disease

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Term information

Subsets

NCIT_C99147, NCIT_C90259, NCIT_C118168, NCIT_C61410, NCIT_C77526, NCIT_C116977, NCIT_C120531

ALT DEFINITION

Disorder caused by defects in the function of the lysosomes resulting in the presence of small clear vacuoles containing phospholipids within the cytoplasm of various cells. (INHAND)

Contributing Source

CTRP

CDISC

NICHD

Display Name

Lysosomal Storage Disease

Legacy Concept Name

Lysosomal_Storage_Disease

NICHD Hierarchy Term

Lysosomal Storage Disorder

Preferred Name

Lysosomal Storage Disease

Semantic Type

Disease or Syndrome

UMLS CUI

C0085078

code

C61250