PMO Precision Medicine Ontology - Lysosomal Storage Diseases - Classes | NCBO BioPortal

PMO Precision Medicine Ontology

Last uploaded: December 16, 2020

Id	http://www.phoc.org.cn/pmo/class/PMO_00036680 http://www.phoc.org.cn/pmo/class/PMO_00036680
Preferred Name	Lysosomal Storage Diseases
Definitions	An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
Type	http://www.w3.org/2002/07/owl#Class

label	Lysosomal Storage Diseases
prefLabel	Lysosomal Storage Diseases
Synonym	Disorders, Lysosomal Enzyme Disorder of Lysosomal Enzymes DISORDERS OF LYSOSOMAL ENZYMES PHOSPHOLIPIDOSIS disorder of lysosomal enzyme lysosomal storage disorders Lysosomal Enzyme Disorders Lysosomal enzyme defect Lysosomal Storage Disorder SECTION 6-7 DISORDERS OF LYSOSOMAL ENZYMES Diseases, Lysosomal Storage Lysosomal storage disease Disorder of lysosomal enzyme (disorder) Lysosomal Storage Disease Disorder of lysosomal enzyme, NOS Disorder, Lysosomal Enzyme Lysosomal enzyme disorder lysosomal storage diseases Lysosomal storage disease (disorder) Lysosomal Storage Diseases [Disease/Finding] lysosomal storage disorder Lysosomal storage diseases lysosomal storage disease Lysosomal storage disorders lysosomal storage metabolism disorder Disorder of lysosomal enzyme Lysosomal Enzyme Disorder LYSOSOMAL ENZYME DIS Enzyme Disorders, Lysosomal LYSOSOMAL STORAGE DIS inborn lysosomal enzyme disorder Enzyme Disorder, Lysosomal Disease, Lysosomal Storage See more See less
Definition	An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
PMOID	PMO:00036680
MCID	MC00043145
prefixIRI	pmo:PMO_00036680
Database_Cross_Reference	NCI:C61250 DO:DOID:3211 LNC:LP111174-1 MTH:NOCODE LCH_NW:sh85079196 NDFRT:N0000003414 MSH:D016464 LNC:MTHU036683 NCI_NICHD:C61250 CSP:1849-5878 CHV:0000015411 NCI_CDISC:C61250 MDR:10024579 SNOMEDCT_US:23585005 SNMI:D6-70000 SNOMEDCT_VET:280081000009104 See more See less
Tree Number	T9.8.4.14.3 T9.11.1.12.3
subClassOf	http://www.phoc.org.cn/pmo/class/PMO_00036639
type	http://www.w3.org/2002/07/owl#Class

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