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loading...| Preferred Name |
Fabry's disease |
|
| Synonyms |
alpha galactosidase deficiency |
|
| Definitions |
x-linked lysosomal storage disease of glycosphingolipid catabolism, resulting from a deficiency of alpha-galactosidase A and leading to accumulation of ceramide trihexoside in the cardiovascular and renal systems. |
|
| ID |
http://purl.bioontology.org/ontology/CSP/1849-9034 |
|
| altLabel |
alpha galactosidase deficiency ceramide trihexosidase deficiency ceramide trihexosidosis angiokeratoma corporis diffusum |
|
| cui |
C0002986 |
|
| definition |
x-linked lysosomal storage disease of glycosphingolipid catabolism, resulting from a deficiency of alpha-galactosidase A and leading to accumulation of ceramide trihexoside in the cardiovascular and renal systems. |
|
| DID |
1849-9034 |
|
| Inverse of RB | ||
| Inverse of RO | ||
| notation |
1849-9034 |
|
| prefLabel |
Fabry's disease |
|
| tui |
T047 |
|
| subClassOf |
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