PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Lysosomal Storage Diseases

Synonyms
Definitions

An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.

ID

http://www.phoc.org.cn/pmo/class/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

Definition

An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.

label

Lysosomal Storage Diseases

MCID

MC00043145

PMOID

PMO:00036680

prefixIRI

pmo:PMO_00036680

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

Tree Number

T9.8.4.14.3

T9.11.1.12.3

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00036639

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