loading...| Preferred Name | Pseudoxanthoma elasticum | |
| Synonyms |
|
|
| Definitions |
(PXE): A multisystem disorder characterized by accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Burch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye including peau d'orange, angioid streaks, and choroidal neovascularizations, of the skin including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces, and of the cardiovascular system with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings. |
|
| ID |
http://purl.obolibrary.org/obo/OMIM_264800 |
|
| definition |
(PXE): A multisystem disorder characterized by accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Burch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye including peau d'orange, angioid streaks, and choroidal neovascularizations, of the skin including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces, and of the cardiovascular system with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings. |
|
| has_obo_namespace |
cell_cycle_ontology |
|
| id |
OMIM:264800 |
|
| label |
Pseudoxanthoma elasticum |
|
| notation |
OMIM:264800 |
|
| prefLabel |
Pseudoxanthoma elasticum |
|
| treeView | ||
| subClassOf |