Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

MERRF syndrome
Synonyms

Myoclonus epilepsy associated with ragged-red fibers

Fukuhara syndrome
ID

http://www.limics.org/hrdo/rdfns#pat_id_64
ageOfOnset

Childhood
altLabel

Myoclonus epilepsy associated with ragged-red fibers

Fukuhara syndrome
id_MedDRA

10069825
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22merrf+syndrome%22%5BMH%5D+OR+%28MERRF+syndrome%5BTW%5D+NOT+medline%5Bsb%5D%29
id_MeSH

D017243
id_MIM

545000
id_OMS

G40.3
id_Orpha

551
id_SNOMEDCT

230426003

68448003
id_UMLS

C0162672
inheritance

Mitochondrial inheritance
patType

disease
prefixIRI

hrdo:pat_id_64
prefLabel

MERRF syndrome
prevalence

1-9 / 1 000 000
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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http://purl.obolibrary.org/obo/DOID_310 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0010790 MONDO LOOM
rgo:29740 GAMUTS LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038586 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.545 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0010790 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0010790 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010790 DOVES LOOM
http://purl.obolibrary.org/obo/DOID_310 CLO LOOM
http://purl.obolibrary.org/obo/DOID_310 DOID LOOM
http://purl.obolibrary.org/obo/DOID_310 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_310 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_310 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_310 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_310 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_310 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.660.560.620.530 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#17940 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#MERRF_Syndrome CSEO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10067603 MEDDRA LOOM
http://purl.obolibrary.org/obo/OMIT_0017628 OMIT LOOM
http://purl.bioontology.org/ontology/MESH/D017243 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.651.460.620.530 RH-MESH LOOM
http://purl.jp/bio/4/id/200906008736162862 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.668.491.500.500.550 RH-MESH LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12724 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12724 NIFSTD LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_310 NATPRO LOOM
http://purl.bioontology.org/ontology/ICD10CM/E88.42 ICD10CM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.490.250.650.700 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D017243 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D017243 MDM LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12724 BIRNLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.545 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.545 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.545 RH-MESH LOOM