Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Id	http://www.limics.org/hrdo/rdfns#pat_id_1265 http://www.limics.org/hrdo/rdfns#pat_id_1265
Preferred Name	Acrocephalosyndactyly
Type	http://www.w3.org/2002/07/owl#Class

prefLabel	Acrocephalosyndactyly
prevalence	1-9 / 100 000
inheritance	Autosomal dominant
id_OMS	Q87.0
prefixIRI	hrdo:pat_id_1265
id_Orpha	946
subClassOf	http://www.limics.org/hrdo/rdfns#pat_id_16883
id_SNOMEDCT	268262006
patType	group of phenomes
id_MedDRA	10000590
type	http://www.w3.org/2002/07/owl#Class
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Acrocephalosyndactylia%5Bmajr%5D+OR+Acrocephalosyndactyly%5Bti%5D
ageOfOnset	Neonatal/infancy

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