Matches in DBpedia 2016-04 for { <http://wikidata.dbpedia.org/resource/Q2500124> ?p ?o }
- Q2500124 subject Q6902466.
- Q2500124 subject Q8591772.
- Q2500124 subject Q8750387.
- Q2500124 abstract "Urbach–Wiethe disease (also known as lipoid proteinosis and hyalinosis cutis et mucosae) is a rare recessive genetic disorder, with approximately 400 reported cases since its discovery. It was first officially reported in 1929 by Erich Urbach and Camillo Wiethe, although cases may be recognized dating back as early as 1908.The symptoms of the disease vary greatly from individual to individual. They may include a hoarse voice, lesions and scarring on the skin, easily damaged skin with poor wound healing, dry, wrinkly skin, and beading of the papules around the eyelids. All of these are results of a general thickening of the skin and mucous membranes. In some cases there is also a hardening of brain tissue in the medial temporal lobes, which can lead to epilepsy and neuropsychiatric abnormalities. The disease is typically not life-threatening and patients do not show a decreased life span.Because Urbach–Wiethe disease is an autosomal recessive condition, individuals can be carriers of the disease but show no symptoms. The disease is caused by loss-of-function mutations to chromosome 1 at 1q21, the extracellular matrix protein 1 (ECM1) gene. The dermatological symptoms are caused by a buildup of a hyaline material in the dermis and the thickening of the basement membranes in the skin. Urbach–Wiethe disease is typically diagnosed by its clinical dermatological manifestations, particularly the beaded papules on the eyelids. The discovery of the mutations within the ECM1 gene has allowed the use of genetic testing to confirm an initial clinical diagnosis. Periodic acid-Schiff (PAS) and immunohistochemical staining may also be used for diagnosis.Currently, there is no cure for Urbach–Wiethe disease although there are ways to individually treat many of its symptoms. The discovery of the mutations of the ECM1 gene has opened the possibility of gene therapy or a recombinant ECM1 protein for Urbach–Wiethe disease treatment, but neither of these options is currently available. Some researchers are examining patients with Urbach–Wiethe disease to learn more about other conditions that exhibit similar neurological symptoms, such as autism.".
- Q2500124 icd10 "E78.8".
- Q2500124 icd9 "272.8".
- Q2500124 meshId "D008065".
- Q2500124 omim "247100".
- Q2500124 wikiPageExternalLink 924.html.
- Q2500124 wikiPageExternalLink 15.pdf.
- Q2500124 wikiPageWikiLink Q1074.
- Q2500124 wikiPageWikiLink Q11367.
- Q2500124 wikiPageWikiLink Q116072.
- Q2500124 wikiPageWikiLink Q12128.
- Q2500124 wikiPageWikiLink Q12136.
- Q2500124 wikiPageWikiLink Q1219805.
- Q2500124 wikiPageWikiLink Q12252367.
- Q2500124 wikiPageWikiLink Q1282114.
- Q2500124 wikiPageWikiLink Q13048280.
- Q2500124 wikiPageWikiLink Q1369808.
- Q2500124 wikiPageWikiLink Q1391262.
- Q2500124 wikiPageWikiLink Q1425030.
- Q2500124 wikiPageWikiLink Q1432778.
- Q2500124 wikiPageWikiLink Q1436063.
- Q2500124 wikiPageWikiLink Q1440688.
- Q2500124 wikiPageWikiLink Q1479681.
- Q2500124 wikiPageWikiLink Q154430.
- Q2500124 wikiPageWikiLink Q161238.
- Q2500124 wikiPageWikiLink Q168291.
- Q2500124 wikiPageWikiLink Q169872.
- Q2500124 wikiPageWikiLink Q171171.
- Q2500124 wikiPageWikiLink Q1758383.
- Q2500124 wikiPageWikiLink Q1776131.
- Q2500124 wikiPageWikiLink Q17915405.
- Q2500124 wikiPageWikiLink Q179945.
- Q2500124 wikiPageWikiLink Q180569.
- Q2500124 wikiPageWikiLink Q187126.
- Q2500124 wikiPageWikiLink Q188419.
- Q2500124 wikiPageWikiLink Q189553.
- Q2500124 wikiPageWikiLink Q190016.
- Q2500124 wikiPageWikiLink Q1975850.
- Q2500124 wikiPageWikiLink Q19819850.
- Q2500124 wikiPageWikiLink Q19832450.
- Q2500124 wikiPageWikiLink Q199615.
- Q2500124 wikiPageWikiLink Q1997.
- Q2500124 wikiPageWikiLink Q200569.
- Q2500124 wikiPageWikiLink Q208376.
- Q2500124 wikiPageWikiLink Q215558.
- Q2500124 wikiPageWikiLink Q235378.
- Q2500124 wikiPageWikiLink Q246809.
- Q2500124 wikiPageWikiLink Q258.
- Q2500124 wikiPageWikiLink Q2622199.
- Q2500124 wikiPageWikiLink Q26868.
- Q2500124 wikiPageWikiLink Q2697787.
- Q2500124 wikiPageWikiLink Q271759.
- Q2500124 wikiPageWikiLink Q273538.
- Q2500124 wikiPageWikiLink Q285223.
- Q2500124 wikiPageWikiLink Q285697.
- Q2500124 wikiPageWikiLink Q3025900.
- Q2500124 wikiPageWikiLink Q324921.
- Q2500124 wikiPageWikiLink Q32566.
- Q2500124 wikiPageWikiLink Q32846.
- Q2500124 wikiPageWikiLink Q338924.
- Q2500124 wikiPageWikiLink Q37017.
- Q2500124 wikiPageWikiLink Q37748.
- Q2500124 wikiPageWikiLink Q38404.
- Q2500124 wikiPageWikiLink Q39.
- Q2500124 wikiPageWikiLink Q407553.
- Q2500124 wikiPageWikiLink Q407927.
- Q2500124 wikiPageWikiLink Q41571.
- Q2500124 wikiPageWikiLink Q421239.
- Q2500124 wikiPageWikiLink Q422882.
- Q2500124 wikiPageWikiLink Q42884.
- Q2500124 wikiPageWikiLink Q42918.
- Q2500124 wikiPageWikiLink Q459387.
- Q2500124 wikiPageWikiLink Q48228.
- Q2500124 wikiPageWikiLink Q488415.
- Q2500124 wikiPageWikiLink Q504568.
- Q2500124 wikiPageWikiLink Q518638.
- Q2500124 wikiPageWikiLink Q5262737.
- Q2500124 wikiPageWikiLink Q5388125.
- Q2500124 wikiPageWikiLink Q551875.
- Q2500124 wikiPageWikiLink Q554297.
- Q2500124 wikiPageWikiLink Q600813.
- Q2500124 wikiPageWikiLink Q6473911.
- Q2500124 wikiPageWikiLink Q6531938.
- Q2500124 wikiPageWikiLink Q656732.
- Q2500124 wikiPageWikiLink Q6635943.
- Q2500124 wikiPageWikiLink Q6806558.
- Q2500124 wikiPageWikiLink Q6902466.
- Q2500124 wikiPageWikiLink Q706.
- Q2500124 wikiPageWikiLink Q744385.
- Q2500124 wikiPageWikiLink Q747023.
- Q2500124 wikiPageWikiLink Q78.
- Q2500124 wikiPageWikiLink Q79460.
- Q2500124 wikiPageWikiLink Q8054.
- Q2500124 wikiPageWikiLink Q816798.
- Q2500124 wikiPageWikiLink Q827023.
- Q2500124 wikiPageWikiLink Q83042.
- Q2500124 wikiPageWikiLink Q836379.