loading...| Preferred Name |
Darier Disease |
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| Synonyms |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Darier_Disease |
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| DEFINITION |
An autosomal dominant inherited chronic skin disorder caused by mutations in the ATP2A2 gene. It is characterized by the development of yellow-brown keratotic skin papules in the neck, ears, forehead, chest, back and groin. It is associated with fragility of the free margins of the nails. |
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| FULL_SYN |
Keratosis Follicularis |
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| isDefinedBy |
An autosomal dominant inherited chronic skin disorder caused by mutations in the ATP2A2 gene. It is characterized by the development of yellow-brown keratotic skin papules in the neck, ears, forehead, chest, back and groin. It is associated with fragility of the free margins of the nails. |
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| label |
Darier Disease |
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| prefixIRI |
Thesaurus:Darier_Disease |
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| prefLabel |
Darier Disease |
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| Synonym |
Keratosis Follicularis |
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| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder |