Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Pfeiffer syndrome
Synonyms	ACS 5 Acrocephalosyndactyly type 5
ID	http://www.limics.org/hrdo/rdfns#pat_id_234
ageOfOnset	Neonatal/infancy
altLabel	ACS 5 Acrocephalosyndactyly type 5
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=acrocephalosyndactylia%5Bmajr%5D+AND+%28pfeiffer%5Btw%5D+OR+noack%5Btw%5D%29
id_MeSH	C538582
id_MIM	101600
id_OMS	Q87.0
id_Orpha	710
id_SNOMEDCT	70410008
id_UMLS	C2931888
inheritance	Autosomal dominant
patType	malformation syndrome
prefixIRI	hrdo:pat_id_234
prefLabel	Pfeiffer syndrome
prevalence	1-9 / 100 000
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/MONDO_0007043	EFO	LOOM
http://purl.obolibrary.org/obo/DOID_14705	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0007043	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007043	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0007043	HSPO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007043	DOVES	LOOM
http://purl.bioontology.org/ontology/OMIM/101600	OMIM	LOOM
http://www.gamuts.net/entity#Pfeiffer_syndrome	GAMUTS	LOOM
http://identifiers.org/omim/101600	REXO	LOOM
http://identifiers.org/omim/101600	GEXO	LOOM
http://identifiers.org/omim/101600	RETO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0265303	OCHV	LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00C02	SNMI	LOOM
http://id.nlm.nih.gov/mesh/D000168	MDM	LOOM
http://purl.obolibrary.org/obo/DOID_14705	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_14705	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_14705	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_14705	FNS-H	LOOM
http://www.orpha.net/ORDO/Orphanet_710	ORDO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#25882	OCHV	LOOM
http://purl.obolibrary.org/obo/OMIM_101600	CCO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10082289	MEDDRA	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14705	NATPRO	LOOM