BioAssay Ontology / 生物活性分析本体

Last uploaded: September 7, 2023

Preferred Name	sphingolipidosis
Synonyms	Sphingolipidosis
Definitions	A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.
ID	http://purl.obolibrary.org/obo/DOID_1927
database_cross_reference	GARD:7672 UMLS_CUI:C0037899 NCI:C117254 SNOMEDCT_US_2020_03_01:58459009 MESH:D013106 ICD10CM:E75.3
has exact synonym	Sphingolipidosis sphingolipidoses
id	DOID:1927
in_subset	http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus
label	sphingolipidosis
notation	DOID:1927
prefLabel	sphingolipidosis
textual definition	A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.
引自	http://purl.obolibrary.org/obo/doid.owl
有_obo_命名空间	disease_ontology
subClassOf	http://purl.obolibrary.org/obo/DOID_9455

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_79225	Orphanet Rare Disease Ontology / Orphanet罕见病本体	LOOM
http://purl.obolibrary.org/obo/DOID_1927	Ontology of Drug Adverse Events / 药物不良反应本体	LOOM
http://purl.obolibrary.org/obo/DOID_1927	Ontology of Drug Adverse Events / 药物不良反应本体	SAME_URI
http://purl.obolibrary.org/obo/DOID_1927	Human Disease Ontology / 人类疾病本体	LOOM
http://purl.obolibrary.org/obo/DOID_1927	Human Disease Ontology / 人类疾病本体	SAME_URI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C117254	National Cancer Institute Thesaurus / 美国国家癌症研究所词典	LOOM
http://purl.obolibrary.org/obo/MONDO_0019255	Mondo Disease Ontology / Mondo疾病本体	LOOM
http://purl.obolibrary.org/obo/MONDO_0019255	Experimental Factor Ontology / 实验性因素本体	LOOM
http://purl.bmicc.cn/ontology/ICD11CN/5C56.0	《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China	LOOM