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Cigarette Smoke Exposure Ontology
Last uploaded:
July 10, 2014
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| Id | http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Harlequin_Ichthyosis
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Harlequin_Ichthyosis
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| Preferred Name | Harlequin Ichthyosis |
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
Harlequin Ichthyosis
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| prefLabel |
Harlequin Ichthyosis
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| DEFINITION |
A very rare and usually lethal autosomal recessive inherited disorder of the skin caused by mutations in the ABCA12 gene. It is characterized by the presence of hard and thick skin. There are diamond-like plates formed in the skin which are separated by fissures.
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| isDefinedBy |
A very rare and usually lethal autosomal recessive inherited disorder of the skin caused by mutations in the ABCA12 gene. It is characterized by the presence of hard and thick skin. There are diamond-like plates formed in the skin which are separated by fissures.
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| prefixIRI |
Thesaurus:Harlequin_Ichthyosis
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| subClassOf | |
| type |
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