Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Id	http://www.limics.org/hrdo/rdfns#pat_id_11 http://www.limics.org/hrdo/rdfns#pat_id_11
Preferred Name	Cystinosis
Synonyms	Protein defect of cystin transport
Type	http://www.w3.org/2002/07/owl#Class

altLabel	Protein defect of cystin transport
prefLabel	Cystinosis
id_MIM	219750 219800 219900
prevalence	1-9 / 1 000 000
inheritance	Autosomal recessive
id_UMLS	C0010690
id_OMS	E72.0
prefixIRI	hrdo:pat_id_11
id_Orpha	213
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_11
id_SNOMEDCT	190681003
patType	disease
id_MedDRA	10011777
id_MeSH	D003554
type	http://www.w3.org/2002/07/owl#Class
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=cystinosis%5Bmajr%5D
ageOfOnset	Variable
ageOfDeath	Adult

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