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loading...| Preferred Name |
Fabry_s_Disease |
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| Synonyms |
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| ID |
http://www.owl-ontologies.com/Ontology1358660052.owl#Fabry_s_Disease |
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| ID |
C84701 |
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| NCI_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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| NCI_PT |
Fabry Disease |
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| NICHD_Definition |
_ |
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| prefixIRI |
Fabry_s_Disease |
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| prefLabel |
Fabry_s_Disease |
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| Subset_Association1 |
NICHD Pediatric Terminology |
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| Subset_Association2 |
Neonatal Research Network Terminology |
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| SYN | ||
| subClassOf |
http://www.owl-ontologies.com/Ontology1358660052.owl#Lysosomal_Enzyme_Disorder |
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