Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Id	http://www.limics.org/hrdo/rdfns#pat_id_1391 http://www.limics.org/hrdo/rdfns#pat_id_1391
Preferred Name	Antley-Bixler syndrome
Type	http://www.w3.org/2002/07/owl#Class

prefLabel	Antley-Bixler syndrome
id_MIM	207410
prevalence	<1 / 1 000 000
inheritance	Autosomal recessive
id_UMLS	C0265307
id_OMS	Q87.0
prefixIRI	hrdo:pat_id_1391
id_Orpha	83
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_8
id_SNOMEDCT	62964007
patType	malformation syndrome
id_MeSH	C537780
type	http://www.w3.org/2002/07/owl#Class
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28multisynostotic+osteodysgenesis+OR+%28Antley%5BTI%5D+AND+bixler%5BTI%5D%29%29+NOT+steroidogenesis
ageOfOnset	Neonatal/infancy

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