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Cigarette Smoke Exposure Ontology
Last uploaded:
July 10, 2014
| Acronym | CSEO |
| Visibility | Public |
| Description | The CSEO has potential to become a widely used standard within the academic and industrial community. Mainly because of the emerging need of systems toxicology to controlled vocabularies and also the lack of suitable ontologies for this domain, the CSEO prepares the ground for integrative systems-based research in the exposure science. |
| Status | Beta |
| Format | OWL |
| Contact | Dr. Sam Ansari , sam.ansari@pmi.com |
| Categories | Health |
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| Id | http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Smith-Lemli-Opitz_Syndrome
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Smith-Lemli-Opitz_Syndrome
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| Preferred Name | Smith-Lemli-Opitz Syndrome |
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label | Smith-Lemli-Opitz Syndrome
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| prefLabel | Smith-Lemli-Opitz Syndrome
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| DEFINITION | A rare, autosomal recessive syndrome caused by mutations in the DHCR7 gene. It is characterized by deficiency of the enzyme 3 beta-hydroxysterol-delta 7-reductase resulting in defects in the cholesterol synthesis. It is manifested with multiple congenital malformations, including facial abnormalities, microcephaly, and syndactyly. Behavioral abnormalities may also be present.
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| isDefinedBy | A rare, autosomal recessive syndrome caused by mutations in the DHCR7 gene. It is characterized by deficiency of the enzyme 3 beta-hydroxysterol-delta 7-reductase resulting in defects in the cholesterol synthesis. It is manifested with multiple congenital malformations, including facial abnormalities, microcephaly, and syndactyly. Behavioral abnormalities may also be present.
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| prefixIRI | Thesaurus:Smith-Lemli-Opitz_Syndrome
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