Preferred Name |
Fabry Disease |
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Synonyms |
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|
Definitions |
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. |
|
ID |
http://purl.obolibrary.org/obo/NCIT_C84701 |
|
ALT_DEFINITION |
An X-linked lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A, which 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. |
|
code |
C84701 |
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Contributing_Source |
Cellosaurus NICHD |
|
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. |
|
in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C123272 |
|
label |
Fabry Disease |
|
NCI_META_CUI |
CL412926 |
|
Preferred_Name |
Fabry Disease |
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prefixIRI |
NCIT:C84701 |
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prefLabel |
Fabry Disease |
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Semantic_Type |
Disease or Syndrome |
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subClassOf |