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Epilepsy Semiology
Last uploaded:
November 7, 2019
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| Id | http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Genetic_Disease
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Genetic_Disease
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| Preferred Name | Genetic_Disease |
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| prefLabel | Genetic_Disease
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| CUI | D0000569
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| prefixIRI | ESSO:Genetic_Disease
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| subClassOf | |
| sources | Scheuermann 2009
Genetic Disorder: A disorder whose etiology involves an abnormality in the nucleotide sequence of an organism’s genome.
Scheuermann 2009
Genetic Predisposition to Disease of Type X: A predisposition to disease of type X whose physical basis is a constitutional abnormality in an organism’s genome. This abnormality is the physical basis for the increased risk of acquiring disease X.
Examples: p53 mutation in Li-Fraumeni Syndrome predisposing to cancer; ApoE alleles predisposing to Alzheimer’s disease.
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