FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

maple syrup urine disease
Synonyms
Definitions

An organic acidemia that is 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.
ID

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

An organic acidemia that is 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.
imported from

http://purl.obolibrary.org/obo/doid.owl
label

maple syrup urine disease
prefixIRI

DOID:9269
prefLabel

maple syrup urine disease
subClassOf

http://purl.obolibrary.org/obo/DOID_0060159
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http://purl.obolibrary.org/obo/DOID_9269 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_9269 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_9269 DDSS 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 NIFSTD SAME_URI
rgo:07571 GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0009563 EFO LOOM
http://purl.obolibrary.org/obo/DOID_9269 CLO LOOM
http://purl.obolibrary.org/obo/DOID_9269 DOID LOOM
http://purl.obolibrary.org/obo/DOID_9269 DDSS LOOM
http://purl.obolibrary.org/obo/MONDO_0009563 MONDO LOOM
http://www.orpha.net/ORDO/Orphanet_511 ORDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_708 HRDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200791 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200473 NANDO 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
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://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 DOVES 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 NIFSTD 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/OMIM/248600 OMIM 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://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.520 RH-MESH 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