Link to this page
Pediatric Terminology
Last uploaded:
January 25, 2013
Jump to:
| Preferred Name | Fabry_s_Disease | |
| Synonyms |
|
|
| ID |
http://www.owl-ontologies.com/Ontology1358660052.owl#Fabry_s_Disease |
|
| ID |
C84701
|
|
| 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.
|
|
| NCI_PT |
Fabry Disease
|
|
| NICHD_Definition |
_
|
|
| prefixIRI |
Fabry_s_Disease
|
|
| prefLabel |
Fabry_s_Disease
|
|
| Subset_Association1 |
NICHD Pediatric Terminology
|
|
| Subset_Association2 |
Neonatal Research Network Terminology
|
|
| SYN | ||
| subClassOf |
http://www.owl-ontologies.com/Ontology1358660052.owl#Lysosomal_Enzyme_Disorder |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping