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loading...| Preferred Name | Pseudoxanthoma Elasticum [Disease/Finding] | |
| Synonyms |
Pseudoxanthoma Elasticum |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000002525 |
|
| altLabel |
Pseudoxanthoma Elasticum |
|
| cui |
C0033847 |
|
| MESH DEFINITION |
An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE. |
|
| MESH DUI |
D011561 |
|
| MeSH name |
Pseudoxanthoma Elasticum |
|
| MESH UI |
M0017968 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000002525 |
|
| NUI |
N0000002525 |
|
| prefLabel |
Pseudoxanthoma Elasticum [Disease/Finding] |
|
| SNOMED CID |
252246005 |
|
| tui |
T047 |
|
| subClassOf |
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