Human Disease Ontology 123

Last uploaded: September 28, 2023
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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://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98678 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/LNC/LA12468-7 Logical Observation Identifier Names and Codes LOOM
http://purl.obolibrary.org/obo/HP_0003535 Human Phenotype Ontology LOOM
http://purl.bioontology.org/ontology/MESH/C579867 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/ICD10CM/E71.111 International Classification of Diseases, Version 10 - Clinical Modification LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU039712 Online Mendelian Inheritance in Man LOOM