loading...| Preferred Name | Pseudoxanthoma Elasticum | |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Pseudoxanthoma_Elasticum |
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| DEFINITION |
A rare, progressive, autosomal recessive inherited disorder caused by mutations in the ABCC6 gene. It is characterized by calcification and fragmentation of the elastic fibers of the skin, retina, and cardiovascular system. Signs and symptoms include skin plaques and bumps, thickened skin, retinal hemorrhage and obstruction of the blood vessels. |
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| isDefinedBy |
A rare, progressive, autosomal recessive inherited disorder caused by mutations in the ABCC6 gene. It is characterized by calcification and fragmentation of the elastic fibers of the skin, retina, and cardiovascular system. Signs and symptoms include skin plaques and bumps, thickened skin, retinal hemorrhage and obstruction of the blood vessels. |
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| label |
Pseudoxanthoma Elasticum |
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| prefixIRI |
Thesaurus:Pseudoxanthoma_Elasticum |
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| prefLabel |
Pseudoxanthoma Elasticum |
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| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder |