Cell Line Ontology

Last uploaded: June 28, 2024
Preferred Name

inborn errors of metabolism
Synonyms

"Inborn error of metabolism (disorder)" EXACT [SNOMEDCT_2005_07_31:86095007]

"Metabolic hereditary disorder" EXACT [SNOMEDCT_2005_07_31:363205007]

"Inborn Errors of Metabolism" EXACT [NCI2004_11_17:C34816]

"inborn metabolism disorder" EXACT [CSP2005:1849-0057]

Definitions

"A simple genetic disease that comprises a large class of genetic diseases involving disorders of metabolism." [url:http\://en.wikipedia.org/wiki/Inborn_errors_of_metabolism]

ID

http://purl.obolibrary.org/obo/DOID_655

comment

"A simple genetic disease that comprises a large class of genetic diseases involving disorders of metabolism." [url:http\://en.wikipedia.org/wiki/Inborn_errors_of_metabolism]

alternative term

"Inborn error of metabolism (disorder)" EXACT [SNOMEDCT_2005_07_31:86095007]

"Metabolic hereditary disorder" EXACT [SNOMEDCT_2005_07_31:363205007]

"Inborn Errors of Metabolism" EXACT [NCI2004_11_17:C34816]

"inborn metabolism disorder" EXACT [CSP2005:1849-0057]

label

inborn errors of metabolism

prefixIRI

DOID:655

prefLabel

inborn errors of metabolism

see also

UMLS_CUI:C0025521

URI: http://www.ebi.ac.uk/cellline#inborn_errors_of_metabolism

NCI2009_04D:C34816

SNOMEDCT_2010_1_31:86095007

SNOMEDCT_2010_1_31:363205007

MSH2010_2010_02_22:D008661

subClassOf

http://purl.obolibrary.org/obo/DOID_0050177

http://www.ebi.ac.uk/efo/EFO_0000589

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_655 HTN SAME_URI
http://purl.obolibrary.org/obo/DOID_655 EUPATH SAME_URI
http://purl.obolibrary.org/obo/DOID_655 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_655 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_655 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_655 EPIO SAME_URI
http://purl.obolibrary.org/obo/DOID_655 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_655 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_655 ODAE SAME_URI
http://purl.obolibrary.org/obo/DOID_655 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_655 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019052 MONDO LOOM
http://nanbyodata.jp/ontology/NANDO_2100159 NANDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_655 NATPRO LOOM
http://localhost/plosthes.2017-1#10522 PLOSTHES LOOM
http://purl.obolibrary.org/obo/MONDO_0019052 GCBO LOOM
http://purl.obolibrary.org/obo/MONDO_0019052 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0019052 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019052 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0019052 EPIO LOOM
http://purl.obolibrary.org/obo/MONDO_0019052 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019052 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0019052 KTAO LOOM
http://purl.obolibrary.org/obo/MONDO_0019052 OBA LOOM
http://doe-generated-ontology.com/OntoAD#C0025521 ONTOAD LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Inborn_errors_of_metabolism RPO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10021605 MEDDRA LOOM
http://purl.jp/bio/4/id/200906014283685150 IOBC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Inborn_Errors_of_Metabolism CSEO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_10507 HRDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0025521 OCHV LOOM