Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Bifid nose
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_2457
ageOfOnset	Neonatal/infancy
id_Medline	neant
id_MeSH	C535441
id_MIM	109740 210400
id_OMS	Q30.2
id_Orpha	2695
id_SNOMEDCT	204521002
id_UMLS	C0221363
inheritance	Autosomal dominant Autosomal recessive
patType	malformation syndrome
prefixIRI	hrdo:pat_id_2457
prefLabel	Bifid nose
prevalence	Unknown
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_8

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MP_0030117	MP	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535441	RH-MESH	LOOM
http://purl.bioontology.org/ontology/MESH/C535441	MESH	LOOM
rgo:25574	GAMUTS	LOOM
http://www.orpha.net/ORDO/Orphanet_2695	ORDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/787413007	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/HP_0011803	HP	LOOM
http://purl.obolibrary.org/obo/HP_0011803	UPHENO	LOOM
http://purl.obolibrary.org/obo/HP_0011803	OBA	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU012380	OMIM	LOOM
http://purl.obolibrary.org/obo/MP_0030117	UPHENO	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00001886	PMAPP-PMO	LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:0498	IFAR	LOOM
http://purl.obolibrary.org/obo/MONDO_0000110	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0000110	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0000110	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0000110	KTAO	LOOM
http://purl.obolibrary.org/obo/MONDO_0000110	EFO	LOOM