BioAssay Ontology / 生物活性分析本体

Last uploaded: September 7, 2023
Preferred Name

lysosomal storage disease

Synonyms

lysosomal storage metabolism disorder

Definitions

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

ID

http://purl.obolibrary.org/obo/DOID_3211

database_cross_reference

NCI:C61250

MESH:D016464

SNOMEDCT_US_2020_03_01:23585005

UMLS_CUI:C0085078

has exact synonym

lysosomal storage metabolism disorder

disorder of lysosomal enzyme

inborn lysosomal enzyme disorder

id

DOID:3211

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

label

lysosomal storage disease

notation

DOID:3211

prefLabel

lysosomal storage disease

textual definition

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

引自

http://purl.obolibrary.org/obo/doid.owl

有_obo_命名空间

disease_ontology

subClassOf

http://purl.obolibrary.org/obo/DOID_655

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http://purl.obolibrary.org/obo/MONDO_0002561 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0002561 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/DOID_3211 Ontology of Drug Adverse Events / 药物不良反应本体 LOOM
http://purl.obolibrary.org/obo/DOID_3211 Ontology of Drug Adverse Events / 药物不良反应本体 SAME_URI
http://purl.obolibrary.org/obo/DOID_3211 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/DOID_3211 Human Disease Ontology / 人类疾病本体 SAME_URI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61250 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM