Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Leigh syndrome
Synonyms	Leigh disease Infantile subacute necrotizing encephalopathy
ID	http://www.limics.org/hrdo/rdfns#pat_id_532
ageOfDeath	Any age
ageOfOnset	Variable
altLabel	Leigh disease Infantile subacute necrotizing encephalopathy
id_MedDRA	10062950
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=leigh+disease+OR+Leigh+syndrome%5Btw%5D
id_MeSH	D007888
id_MIM	220111 256000 308930
id_OMS	G31.8
id_Orpha	506
id_SNOMEDCT	29570005
id_UMLS	C0023264 C0751267
inheritance	X-linked recessive Mitochondrial inheritance Autosomal recessive
patType	disease
prefixIRI	hrdo:pat_id_532
prefLabel	Leigh syndrome
prevalence	<1 / 1 000 000
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0009723	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0009723	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009723	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009723	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009723	DOVES	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU039986	OMIM	LOOM
http://nanbyodata.jp/ontology/NANDO_2200527	NANDO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10062950	MEDDRA	LOOM
http://localhost/plosthes.2017-1#6149	PLOSTHES	LOOM
http://www.orpha.net/ORDO/Orphanet_506	ORDO	LOOM
http://purl.bioontology.org/ontology/OMIM/256000	OMIM	LOOM
http://identifiers.org/omim/256000	REXO	LOOM
http://identifiers.org/omim/256000	GEXO	LOOM
http://identifiers.org/omim/256000	RETO	LOOM
http://purl.obolibrary.org/obo/OMIM_256000	CCO	LOOM
http://www.semanticweb.org/cjf/ontologies/2022/8/NeuralReprogrammingOntology(NRO)#Leigh_syndrome	NRO	LOOM