BioAssay Ontology / 生物活性分析本体

Last uploaded: September 7, 2023

Preferred Name	sialuria
Definitions	A lysosomal storage disease characterized by increased sialic acid in the urine. OMIM mapping confirmed by DO. [LS]. OMIM mapping submitted by NeuroDevNet. [LS].
ID	http://purl.obolibrary.org/obo/DOID_3659
comment	OMIM mapping confirmed by DO. [LS]. OMIM mapping submitted by NeuroDevNet. [LS].
database_cross_reference	MESH:D029461 OMIM:604369 OMIM:269921 SNOMEDCT_US_2020_03_01:238051008 UMLS_CUI:C0342853 NCI:C85067
id	DOID:3659
in_subset	http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus
label	sialuria
notation	DOID:3659
prefLabel	sialuria
textual definition	A lysosomal storage disease characterized by increased sialic acid in the urine.
引自	http://purl.obolibrary.org/obo/doid.owl
有_obo_命名空间	disease_ontology
subClassOf	http://purl.obolibrary.org/obo/DOID_3211

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_3659	Human Disease Ontology / 人类疾病本体	LOOM
http://purl.obolibrary.org/obo/DOID_3659	Human Disease Ontology / 人类疾病本体	SAME_URI
http://purl.bioontology.org/ontology/OMIM/269921	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	LOOM
http://purl.obolibrary.org/obo/MONDO_0010028	Mondo Disease Ontology / Mondo疾病本体	LOOM
http://purl.obolibrary.org/obo/MONDO_0010028	Experimental Factor Ontology / 实验性因素本体	LOOM
http://www.orpha.net/ORDO/Orphanet_3166	Orphanet Rare Disease Ontology / Orphanet罕见病本体	LOOM