Matches in DBpedia 2016-04 for { <http://wikidata.dbpedia.org/resource/Q8058422> ?p ?o }
Showing triples 1 to 32 of
32
with 100 triples per page.
- Q8058422 subject Q6313232.
- Q8058422 subject Q6500135.
- Q8058422 subject Q6853484.
- Q8058422 subject Q8482266.
- Q8058422 abstract "Young–Simpson syndrome (YSS), is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation and postnatal growth retardation.Other symptoms include transient hypothyroidism, macular degeneration and torticollis. The condition was discovered in 1987 and the name arose from the individuals who first reported the syndrome. A individual with YSS has been identified with having symptoms to a similar syndrome known as Ohdo Blepharophimosis syndrome showing that it is quite difficult to diagnose the correct condition based on the symptoms present. Some doctors therefore consider the syndrome to be the same.The mode of inheritance has had mixed findings based on studies undertaken. One study showed that the parents of an individual with YSS are unrelated and phenotypically normal, indicating a sporadic mutation, thus making it difficult to base the cause of the condition on genetic make up alone. Another study however with an individual of YSS had first cousins as parents, giving the possibility of autosomal recessive inheritance.".
- Q8058422 omim "603736".
- Q8058422 wikiPageWikiLink Q1269290.
- Q8058422 wikiPageWikiLink Q16501.
- Q8058422 wikiPageWikiLink Q1753547.
- Q8058422 wikiPageWikiLink Q18037239.
- Q8058422 wikiPageWikiLink Q183560.
- Q8058422 wikiPageWikiLink Q2667974.
- Q8058422 wikiPageWikiLink Q42918.
- Q8058422 wikiPageWikiLink Q5253500.
- Q8058422 wikiPageWikiLink Q615363.
- Q8058422 wikiPageWikiLink Q6313232.
- Q8058422 wikiPageWikiLink Q6500135.
- Q8058422 wikiPageWikiLink Q6531938.
- Q8058422 wikiPageWikiLink Q6853484.
- Q8058422 wikiPageWikiLink Q727096.
- Q8058422 wikiPageWikiLink Q749115.
- Q8058422 wikiPageWikiLink Q8482266.
- Q8058422 wikiPageWikiLink Q939364.
- Q8058422 wikiPageWikiLink Q966052.
- Q8058422 name "Young–Simpson syndrome".
- Q8058422 omim "603736".
- Q8058422 type Disease.
- Q8058422 type Thing.
- Q8058422 type Q12136.
- Q8058422 comment "Young–Simpson syndrome (YSS), is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation and postnatal growth retardation.Other symptoms include transient hypothyroidism, macular degeneration and torticollis. The condition was discovered in 1987 and the name arose from the individuals who first reported the syndrome.".
- Q8058422 label "Young–Simpson syndrome".
- Q8058422 name "Young–Simpson syndrome".