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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| 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.
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|
| 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
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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.
|
|
| 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 |
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