Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

MELAS syndrome
Synonyms

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
ID

http://www.limics.org/hrdo/rdfns#pat_id_63
ageOfOnset

Childhood
altLabel

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
id_MedDRA

10053872
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22melas+syndrome%22%5BMeSH+Terms%5D+OR+%28MELAS%5BText+Word%5D+NOT+medline%5Bsb%5D%29
id_MeSH

D017241
id_MIM

540000
id_OMS

G71.3
id_Orpha

550
id_SNOMEDCT

39925003
id_UMLS

C0162671
inheritance

Mitochondrial inheritance

Sporadic
patType

disease
prefixIRI

hrdo:pat_id_63
prefLabel

MELAS syndrome
prevalence

Unknown
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0010789 MONDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.660.560.620.520 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.535 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C84885 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.535 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D017241 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D017241 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.535 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.651.460.620.520 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#17939 OCHV LOOM
http://purl.obolibrary.org/obo/DOID_3687 DOID LOOM
http://purl.obolibrary.org/obo/DOID_3687 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3687 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_3687 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3687 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_3687 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3687 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_3687 FNS-H LOOM
urn:agi-pathway:uuid-9662419c-8806-40b7-947d-2c6872258caa BPT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.300.275.500 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0017626 OMIT LOOM
http://purl.bioontology.org/ontology/MESH/D017241 MESH LOOM
http://purl.jp/bio/4/id/200906055206482716 IOBC LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038501 PMAPP-PMO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3687 NATPRO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#MELAS_Syndrome CSEO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84885 NCIT LOOM
http://purl.obolibrary.org/obo/MONDO_0010789 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0010789 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010789 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.535 RH-MESH LOOM
http://purl.bioontology.org/ontology/ICD10CM/E88.41 ICD10CM LOOM
http://purl.bioontology.org/ontology/MEDDRA/10053872 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.668.491.500.500.500 RH-MESH LOOM
urn:agi-folder:melas_syndrome BPT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.907.253.329.500 RH-MESH LOOM
rgo:24890 GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0162671 OCHV LOOM