Preferred Name | Fabry Disease | |
Synonyms |
Alpha-Galactosidase A Deficiency Angiokeratoma Corporis Diffusum Fabry's Disease Fabry Disease |
|
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://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#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 |
|
Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123272 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
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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. |
|
FULL_SYN |
Alpha-Galactosidase A Deficiency Angiokeratoma Corporis Diffusum Fabry's Disease Fabry Disease |
|
label |
Fabry Disease |
|
NCI_META_CUI |
CL412926 |
|
Preferred_Name |
Fabry Disease |
|
prefixIRI |
Thesaurus:C84701 |
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Semantic_Type |
Disease or Syndrome |
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subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61250 |