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Cigarette Smoke Exposure Ontology
Last uploaded:
July 10, 2014
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| Preferred Name | Fabry Disease | |
| Synonyms |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Fabry_Disease |
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| DEFINITION |
A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure.
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| FULL_SYN |
Alpha-Galactosidase A Deficiency
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| isDefinedBy |
A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure.
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| label |
Fabry Disease
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| prefixIRI |
Thesaurus:Fabry_Disease
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| prefLabel |
Fabry Disease
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| Synonym |
Alpha-Galactosidase A Deficiency
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| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Lysosomal_Storage_Disease |
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