National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
Jump to:
Id http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61250
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61250
Preferred Name

Lysosomal Storage Disease
Definitions
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.
Synonyms
PHOSPHOLIPIDOSIS
Lysosomal Storage Disease
Lysosomal Storage Disorder
Disorder of Lysosomal Enzymes
Type http://www.w3.org/2002/07/owl#Class

All Properties

label
Lysosomal Storage Disease
Legacy Concept Name
Lysosomal_Storage_Disease
Preferred_Name
Lysosomal Storage Disease
Display_Name
Lysosomal Storage Disease
Semantic_Type
Disease or Syndrome
prefixIRI
Thesaurus:C61250
DEFINITION
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.
UMLS_CUI
C0085078
code
C61250
subClassOf
type
FULL_SYN
PHOSPHOLIPIDOSIS
Lysosomal Storage Disease
Lysosomal Storage Disorder
Disorder of Lysosomal Enzymes
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
CDISC
CTRP
NICHD
Concept_In_Subset
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display