Skip to main content
Diseases

Lysosomal Storage Diseases

lysosomal storage diseases

Entity Type
Diseases
Relation Groups
3
Relation Preview
24

Basic Information

Grouped by core information, identifiers, and descriptions.

Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.

Core Information

Disease Name
Lysosomal Storage Diseases
Standard Disease Name
lysosomal storage diseases
MeSH Tree
No data
ICD-10
No data

Identifiers

DO ID
No data
MeSH ID
D016464
OMIM ID
No data
UMLS ID
C0085078
HPO ID
No data

Description and Extensions

Description
NCI2016_CDISC_1602D: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)|NCI2016_02D: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.|MSH2017_2016_08_12:Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.|CSP2006:inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.