Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Hypodontia
Synonyms	Tooth agenesis
ID	http://www.limics.org/hrdo/rdfns#pat_id_2101
ageOfDeath	Normal
ageOfOnset	Childhood
altLabel	Tooth agenesis
id_MedDRA	10055001
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Hypodontia%5Bti%5D+OR+Anodontia%5Bti%5D+OR+Anodontia%5Bmajr%5D
id_MIM	106600 114600 147330 150400 302400 313500 602639 604625
id_OMS	K00.0
id_Orpha	2227
id_SNOMEDCT	64969001
id_UMLS	C0020608
inheritance	X-linked recessive Autosomal dominant Autosomal recessive
patType	morphological anomaly
prefixIRI	hrdo:pat_id_2101
prefLabel	Hypodontia
prevalence	>1 / 1000
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_1 http://www.limics.org/hrdo/rdfns#typ_id_11

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
rgo:19284	GAMUTS	LOOM
http://purl.obolibrary.org/obo/HP_0000668	EFO	LOOM
http://purl.obolibrary.org/obo/HP_0000668	HP	LOOM
http://purl.org/obo/owl/HP#HP_0000668	BDO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#6471	OCHV	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU002570	OMIM	LOOM
http://purl.obolibrary.org/obo/NCIT_C171426	BERO	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00001649	PMAPP-PMO	LOOM
http://purl.bioontology.org/ontology/RCD/J0004	RCD	LOOM
http://purl.bioontology.org/ontology/RCTV2/J000400	RCTV2	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C171426	NCIT	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10055001	MEDDRA	LOOM
http://purl.obolibrary.org/obo/HP_0000668	UPHENO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0020608	OCHV	LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Hypodontia	RPO	LOOM
http://id.nlm.nih.gov/mesh/D000848	MDM	LOOM