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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Id | http://purl.obolibrary.org/obo/NCIT_C85036
http://purl.obolibrary.org/obo/NCIT_C85036
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|---|---|
| Preferred Name | Pseudoxanthoma Elasticum |
| Definitions |
A rare, progressive, autosomal recessive inherited disorder caused by mutations in the ABCC6 gene. It is characterized by calcification and fragmentation of the elastic fibers of the skin, retina, and cardiovascular system. Signs and symptoms include skin plaques and bumps, thickened skin, retinal hemorrhage and obstruction of the blood vessels.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare, progressive, autosomal recessive inherited disorder caused by mutations in the ABCC6 gene. It is characterized by calcification and fragmentation of the elastic fibers of the skin, retina, and cardiovascular system. Signs and symptoms include skin plaques and bumps, thickened skin, retinal hemorrhage and obstruction of the blood vessels. |
|---|---|
| label |
Pseudoxanthoma Elasticum
|
| prefLabel |
Pseudoxanthoma Elasticum
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| in_subset | |
| Preferred_Name |
Pseudoxanthoma Elasticum
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| UMLS_CUI |
C0033847
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| prefixIRI |
NCIT:C85036
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| Contributing_Source |
Cellosaurus
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| subClassOf | |
| code |
C85036
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| type | |
| Semantic_Type |
Disease or Syndrome
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