Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023

Preferred Name	cystinuria
Definitions	An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder. OMIM mapping confirmed by DO. [SN].
ID	http://purl.obolibrary.org/obo/DOID_9266
comment	OMIM mapping confirmed by DO. [SN].
database_cross_reference	MESH:D003555 GARD:6237 OMIM:220100 UMLS_CUI:C0010691 ORDO:214 NCI:C84664 SNOMEDCT_US_2022_09_01:154738008 ICD10CM:E72.01
definition	An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.
disease has location	http://purl.obolibrary.org/obo/UBERON_0000056 http://purl.obolibrary.org/obo/UBERON_0002113 http://purl.obolibrary.org/obo/UBERON_0001255
has_obo_namespace	disease_ontology
id	DOID:9266
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim http://purl.obolibrary.org/obo/doid#NCIthesaurus
label	cystinuria
notation	DOID:9266
prefLabel	cystinuria
subClassOf	http://purl.obolibrary.org/obo/DOID_557 http://purl.obolibrary.org/obo/DOID_9252 http://purl.obolibrary.org/obo/DOID_1426 http://purl.obolibrary.org/obo/DOID_365

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D003555	Medical Subject Headings / 医学主题词表	LOOM
http://www.orpha.net/ORDO/Orphanet_214	Orphanet Rare Disease Ontology / Orphanet罕见病本体	LOOM
http://purl.obolibrary.org/obo/HP_0003131	Human Phenotype Ontology / 人类表型本体	LOOM
http://purl.bmicc.cn/ontology/ICD11CN/5C60.2	《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China	LOOM
http://purl.obolibrary.org/obo/MONDO_0009067	Mondo Disease Ontology / Mondo疾病本体	LOOM
http://purl.obolibrary.org/obo/MONDO_0009067	Experimental Factor Ontology / 实验性因素本体	LOOM
http://purl.bioontology.org/ontology/OMIM/220100	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84664	National Cancer Institute Thesaurus / 美国国家癌症研究所词典	LOOM
http://purl.obolibrary.org/obo/DOID_9266	BioAssay Ontology / 生物活性分析本体	LOOM
http://purl.obolibrary.org/obo/DOID_9266	BioAssay Ontology / 生物活性分析本体	SAME_URI
http://purl.bioontology.org/ontology/ICD10CM/E72.01	International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改	LOOM