Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Heterotaxia
Synonyms	Heterotaxy syndrome Visceral heterotaxy Lateralization defect
ID	http://www.limics.org/hrdo/rdfns#pat_id_8556
ageOfOnset	Neonatal/infancy
altLabel	Heterotaxy syndrome Visceral heterotaxy Lateralization defect
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Heterotax%5Bti%5D+OR+situs+inversus%5Bmajr%5D+OR+right+isomerism%5Bti%5D+OR+left+isomerism%5Bti%5D+OR+lateralization+defect%5Bti%5D
id_MIM	208530 270100 306955 601086 605376 606325 613751
id_OMS	Q89.3
id_Orpha	450
inheritance	X-linked recessive Autosomal dominant Autosomal recessive
patType	group of phenomes
prefixIRI	hrdo:pat_id_8556
prefLabel	Heterotaxia
prevalence	1-9 / 100 000
subClassOf	http://www.limics.org/hrdo/rdfns#pat_id_13733

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MP_0004133	MP	LOOM
http://purl.obolibrary.org/obo/MP_0004133	UPHENO	LOOM
http://purl.obolibrary.org/obo/MP_0004133	CHIRO	LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Heterotaxia	PEDTERM	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10067265	MEDDRA	LOOM
http://www.ebi.ac.uk/efo/EFO_0009081	EFO	LOOM
http://www.orpha.net/ORDO/Orphanet_450	ORDO	LOOM