loading...| Preferred Name | Pseudoxanthoma elasticum | |
| Synonyms |
PXE Gronblad-Strandberg-Touraine syndrome |
|
| Definitions |
A rare, genetic, metabolic disease with connective tissue and eye involvement, characterized by progressive ectopic mineralization and fragmented elastic fibers in the skin, retina and vascular walls. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_758 |
|
| alternative_term |
PXE Gronblad-Strandberg-Touraine syndrome |
|
| definition |
A rare, genetic, metabolic disease with connective tissue and eye involvement, characterized by progressive ectopic mineralization and fragmented elastic fibers in the skin, retina and vascular walls. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=758 |
|
| has_age_of_onset |
All ages |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
UMLS:C0033847 OMIM:177850 ICD-10:Q82.8 MeSH:D011561 OMIM:264800 MedDRA:10037150 ICD-11:EC40 |
|
| label |
Pseudoxanthoma elasticum |
|
| notation |
ORPHA:758 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_139030 http://www.orpha.net/ORDO/Orphanet_71281 http://www.orpha.net/ORDO/Orphanet_506213 http://www.orpha.net/ORDO/Orphanet_183503 http://www.orpha.net/ORDO/Orphanet_156629 http://www.orpha.net/ORDO/Orphanet_139027 http://www.orpha.net/ORDO/Orphanet_228215 |
|
| prefixIRI |
ORDO:Orphanet_758 |
|
| prefLabel |
Pseudoxanthoma elasticum |
|
| present_in |
Europe AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_139030 http://www.orpha.net/ORDO/Orphanet_71281 http://www.orpha.net/ORDO/Orphanet_506213 http://www.orpha.net/ORDO/Orphanet_183503 http://www.orpha.net/ORDO/Orphanet_156629 http://www.orpha.net/ORDO/Orphanet_139027 http://www.orpha.net/ORDO/Orphanet_228215 |
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| subClassOf |