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loading...| Preferred Name | Genetic_Disease | |
| Synonyms |
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|
| ID |
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Genetic_Disease |
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| CUI |
D0000569 |
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| prefixIRI |
ESSO:Genetic_Disease |
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| prefLabel |
Genetic_Disease |
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| 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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| subClassOf |
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#disease |
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