Cell Line Ontology

Last uploaded: June 28, 2024
Jump to:
Preferred Name

maple syrup urine disease
Synonyms

"Maple syrup urine disease" EXACT [MTHICD9_2006:270.3]

"Ketoacidaemia" EXACT [SNOMEDCT_2005_07_31:27718001]

"branched chain ketoaciduria" EXACT [CSP2005:1849-1063]
Definitions

"Maple syrup urine disease is a hereditary aminoaciduria caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures." [URL:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=maple%20syrup%20urine%20disease]
ID

http://purl.obolibrary.org/obo/DOID_9269
comment

"Maple syrup urine disease is a hereditary aminoaciduria caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures." [URL:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=maple%20syrup%20urine%20disease]
alternative term

"Maple syrup urine disease" EXACT [MTHICD9_2006:270.3]

"Ketoacidaemia" EXACT [SNOMEDCT_2005_07_31:27718001]

"branched chain ketoaciduria" EXACT [CSP2005:1849-1063]
label

maple syrup urine disease
prefixIRI

DOID:9269
prefLabel

maple syrup urine disease
see also

UMLS_CUI:C0024776

SNOMEDCT_2010_1_31:27718001

MSH2010_2010_02_22:D008375

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

NCI2009_04D:C34806

OMIM2009_05_01:248600
subClassOf

http://purl.obolibrary.org/obo/DOID_858

http://purl.obolibrary.org/obo/DOID_889
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_9269 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_9269 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_9269 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_9269 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_9269 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_9269 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_9269 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009563 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_9269 DOID LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.520 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_511 ORDO LOOM
http://purl.bioontology.org/ontology/LNC/LA21168-2 LOINC LOOM
rgo:07571 GAMUTS LOOM
http://purl.jp/bio/4/id/200906010796288126 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.520 RH-MESH LOOM
http://purl.bioontology.org/ontology/LNC/MTHU021578 LOINC LOOM
http://purl.obolibrary.org/obo/OMIT_0009446 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D008375 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_9269 NATPRO LOOM
http://purl.bioontology.org/ontology/ICD10/E71.0 ICD10 LOOM
http://nanbyodata.jp/ontology/NANDO_1200791 NANDO LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0024776 MEDLINEPLUS LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038500 PMAPP-PMO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#7741 OCHV LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/27718001 SNOMEDCT LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15092 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.100.608 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Maple_Syrup_Urine_Disease CSEO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10026818 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.520 RH-MESH LOOM
http://purl.bioontology.org/ontology/LNC/LP56746-8 LOINC LOOM
http://purl.obolibrary.org/obo/MONDO_0009563 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0009563 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0009563 EFO LOOM
http://purl.obolibrary.org/obo/DOID_9269 DTO LOOM
http://purl.obolibrary.org/obo/DOID_9269 BAO LOOM
http://purl.obolibrary.org/obo/DOID_9269 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_9269 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_9269 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_9269 FNS-H LOOM
http://purl.obolibrary.org/obo/OMIM_248600 CCO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.100.608 RH-MESH LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Maple_Syrup_Urine_Disease ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Maple_Syrup_Urine_Disease MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Maple_Syrup_Urine_Disease EPISEM LOOM
http://purl.bioontology.org/ontology/CSP/1849-1063 CRISP LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0024776 OCHV LOOM
http://purl.bioontology.org/ontology/RCD/C3033 RCD LOOM
http://purl.bioontology.org/ontology/MESH/D008375 MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/C303300 RCTV2 LOOM
http://purl.bioontology.org/ontology/ICD10CM/E71.0 ICD10CM LOOM
http://purl.obolibrary.org/obo/NCIT_C34806 BERO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_708 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.520 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_2200473 NANDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34806 NCIT LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Maple_Syrup_Urine_Disease PEDTERM LOOM