Epilepsy Syndrome Seizure Ontology

Last uploaded: November 10, 2015
Preferred Name

Constitutional_Genetic_Disease

Synonyms
ID

http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Constitutional_Genetic_Disease

prefLabel

Constitutional_Genetic_Disease

sources

Scheuermann 2009 Constitutional Genetic Disease: A disease whose physical basis is a constitutional genetic disorder. Examples: chronic: color blindness, polydactyly; progressive: Down syndrome, Tay-Sachs disease. Scheuermann 2009 Constitutional Genetic Disorder: A genetic disorder inherited during conception that is borne by all cells in the organism. Examples: mutation in the hexosaminidase gene leading to Tay-Sachs disease.

subClassOf

http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#A_Note_to_Myself

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