Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

3-methylglutaconic aciduria

Definitions

An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine.

ID

http://purl.obolibrary.org/obo/DOID_0060336

created_by

emitraka

creation_date

2015-04-16T10:50:48Z

database_cross_reference

ORDO:289902

MESH:C579867

OMIM:PS250950

ICD10CM:E71.111

definition

An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine.

has_obo_namespace

disease_ontology

id

DOID:0060336

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

3-methylglutaconic aciduria

notation

DOID:0060336

prefLabel

3-methylglutaconic aciduria

subClassOf

http://purl.obolibrary.org/obo/DOID_0060159

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http://purl.obolibrary.org/obo/MONDO_0017359 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0017359 Experimental Factor Ontology / 实验性因素本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98678 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/LNC/LA12468-7 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.obolibrary.org/obo/HP_0003535 Human Phenotype Ontology / 人类表型本体 LOOM
http://www.orpha.net/ORDO/Orphanet_289902 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C579867 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/ICD10CM/E71.111 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU039712 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM