Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Id	http://www.limics.org/hrdo/rdfns#pat_id_1022 http://www.limics.org/hrdo/rdfns#pat_id_1022
Preferred Name	Joubert syndrome
Synonyms	Joubert syndrome type A Joubert-Boltshauser syndrome CPD IV Cerebelloparenchymal disorder IV Pure Joubert syndrome Classic Joubert syndrome
Type	http://www.w3.org/2002/07/owl#Class

altLabel	Joubert syndrome type A Joubert-Boltshauser syndrome CPD IV Cerebelloparenchymal disorder IV Pure Joubert syndrome Classic Joubert syndrome See more See less
prefLabel	Joubert syndrome
id_MIM	213300 610688 612291 614173 614424 614464 614615 614970 See more See less
prevalence	1-9 / 100 000
inheritance	Autosomal recessive
id_OMS	Q04.3
prefixIRI	hrdo:pat_id_1022
id_Orpha	475
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11
patType	disease
type	http://www.w3.org/2002/07/owl#Class
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=joubert+boltshauser%5Btw%5D+OR+joubert+synd%5Btw%5D+OR+%28cerebell%5Bti%5D+vermis%5Bti%5D+agenesis%5Bti%5D%29
ageOfOnset	Neonatal/infancy

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