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Disease core ontology applied to Rare Diseases
Last uploaded:
February 7, 2014
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Id | http://www.limics.org/hrdo/rdfns#pat_id_11280
http://www.limics.org/hrdo/rdfns#pat_id_11280
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Preferred Name | Classical phenylketonuria |
Synonyms |
Classical PKU
Classic phenylketonuria
Classic PKU
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
altLabel |
Classical PKU
Classic phenylketonuria
Classic PKU
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prefLabel |
Classical phenylketonuria
|
prevalence |
1-9 / 100 000
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inheritance |
Autosomal recessive
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id_OMS |
E70.0
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prefixIRI |
hrdo:pat_id_11280
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id_Orpha |
79254
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subClassOf | |
patType |
clinical subtype
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type | |
id_Medline |
neant
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ageOfOnset |
Neonatal/infancy
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ageOfDeath |
Normal
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