loading...| Preferred Name |
Fabry disease |
| Definitions |
Fabry disease is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin called angiokeratomas; decreased sweating (hypohidrosis); corneal opacity; and hearing loss. Fabry disease can also involve potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. This disorder is caused by mutations in the GLA gene; it has an X-linked pattern of inheritance. |
| ID |
http://purl.bioontology.org/ontology/LNC/LA14036-0 |
| Answer to |
http://purl.bioontology.org/ontology/LNC/57719-7 http://purl.bioontology.org/ontology/LNC/57720-5 |
| cui |
C0002986 |
| definition |
Fabry disease is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin called angiokeratomas; decreased sweating (hypohidrosis); corneal opacity; and hearing loss. Fabry disease can also involve potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. This disorder is caused by mutations in the GLA gene; it has an X-linked pattern of inheritance. |
| notation |
LA14036-0 |
| prefLabel |
Fabry disease |
| tui |
T047 |