Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
Jump to:
Preferred Name

Maple syrup urine disease
Synonyms

BCKD deficiency

Leucinosis

BCKDH deficiency

Branched-chain ketoacid dehydrogenase deficiency

Branched-chain ketoaciduria

MSUD
ID

http://www.limics.org/hrdo/rdfns#pat_id_708
ageOfOnset

Neonatal/infancy
altLabel

BCKD deficiency

Leucinosis

BCKDH deficiency

Branched-chain ketoacid dehydrogenase deficiency

Branched-chain ketoaciduria

MSUD
id_MedDRA

10026817
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=maple+syrup+urine+disease+OR+Branched+chain+ketoaciduria%5Bti%5D
id_MeSH

D008375
id_MIM

248600

615135
id_OMS

E71.0
id_Orpha

511
id_SNOMEDCT

190700007

24013007

27718001
id_UMLS

C0024776

C0268576
inheritance

Autosomal recessive
patType

disease
prefixIRI

hrdo:pat_id_708
prefLabel

Maple syrup urine disease
prevalence

Unknown
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Mapping To Ontology Source
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 CLO 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://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