Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Id	http://www.limics.org/hrdo/rdfns#pat_id_630 http://www.limics.org/hrdo/rdfns#pat_id_630
Preferred Name	Alport syndrome
Synonyms	Alport deafness-nephropathy
Type	http://www.w3.org/2002/07/owl#Class

altLabel	Alport deafness-nephropathy
prefLabel	Alport syndrome
id_MIM	104200 203780 301050
prevalence	1-9 / 100 000
inheritance	X-linked dominant Autosomal dominant Autosomal recessive
id_UMLS	C1567741
id_OMS	Q87.8
prefixIRI	hrdo:pat_id_630
id_Orpha	63
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11
id_SNOMEDCT	399340005
patType	disease
id_MedDRA	10001843
id_MeSH	D009394
type	http://www.w3.org/2002/07/owl#Class
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Alport+syndrome%5Btiab%5D+OR+(Nephritis,+Hereditary+(Hearing+Loss))
ageOfOnset	Childhood
ageOfDeath	No data available

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