Preferred Name

Lysosomal Storage Diseases [Disease/Finding]

Synonyms

Lysosomal Enzyme Disorders

Lysosomal Storage Diseases

ID

http://purl.bioontology.org/ontology/NDFRT/N0000003414

altLabel

Lysosomal Enzyme Disorders

Lysosomal Storage Diseases

cui

C0085078

MESH DEFINITION

Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.

MESH DUI

D016464

MeSH name

Lysosomal Storage Diseases

MESH UI

M0025150

NDFRT kind

DISEASE_KIND

notation

N0000003414

NUI

N0000003414

prefLabel

Lysosomal Storage Diseases [Disease/Finding]

SNOMED CID

23585005

tui

T047

subClassOf

http://purl.bioontology.org/ontology/NDFRT/N0000002005

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