Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Hemifacial microsomia
Synonyms	Disostosis otomandibular Otomandibular dysostosis
ID	http://www.limics.org/hrdo/rdfns#pat_id_17045
altLabel	Disostosis otomandibular Otomandibular dysostosis Syndrome du premier arc branchial Syndrome otomandibulaire First branchial arch syndrome Síndrome otomandibular Otomandibular syndrome Disostosis oromandibular Laterofacial microsomia Síndrome del primer arco branquial Microsomía laterofacial Síndrome oromandibular Microsomie latéro-faciale Dysostose oto-mandibulaire
id_Medline	neant
id_OMS	Q75.8
id_Orpha	141136
id_SNOMEDCT	254025006
patType	malformation syndrome
prefixIRI	hrdo:pat_id_17045
prefLabel	Microsomie hémifaciale Hemifacial microsomia Mikrosomie, hemifaziale Microssomia hemifacial Microsomía hemifacial Hemifacial microsomia
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_8

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
rgo:26793	GAMUTS	LOOM
rgo:26793	GAMUTS	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#4840	OCHV	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0015454	OCHV	LOOM
http://www.gamuts.net/entity#hemifacial_microsomia	GAMUTS	LOOM
http://purl.obolibrary.org/obo/MONDO_0015398	DOVES	LOOM
http://purl.bioontology.org/ontology/RCTV2/PE00000	RCTV2	LOOM
http://purl.org/skeletome/bonedysplasia#Hemifacial_microsomia	BDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/254025006	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/HL7/C3495417	HL7	LOOM
http://purl.bioontology.org/ontology/RCD/X7893	RCD	LOOM
http://purl.jp/bio/4/id/200906094736219663	IOBC	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU066818	OMIM	LOOM
http://id.nlm.nih.gov/mesh/D006053	MDM	LOOM
http://purl.bioontology.org/ontology/LNC/LA29638-6	LOINC	LOOM