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- Q3961695 subject Q6500135.
- Q3961695 subject Q7215443.
- Q3961695 subject Q7216519.
- Q3961695 abstract "Weill–Marchesani syndrome (also known as Spherophakia-brachymorphia syndrome, congenital mesodermal dystrophy, and GEMSS syndrome) is a rare genetic disorder characterized by short stature; an unusually short, broad head (brachycephaly) and other facial abnormalities; hand defects, including unusually short fingers (brachydactyly); and distinctive eye (ocular) abnormalities. It was named after ophthalmologists Georges Weill (1866-1952) and Oswald Marchesani (1900-1952) who first described it in 1932 and 1939, respectively.The eye manifestations typically include unusually small, round lenses of the eyes (spherophakia), which may be prone to dislocating (ectopia lentis), as well as other ocular defects. Due to such abnormalities, affected individuals may have varying degrees of visual impairment, ranging from nearsightedness myopia to blindness. Researchers suggest that Weill–Marchesani syndrome may have autosomal recessive or autosomal dominant inheritance.".
- Q3961695 icd9 "759.89".
- Q3961695 omim "608328".
- Q3961695 thumbnail Marchesani2.gif?width=300.
- Q3961695 wikiPageExternalLink br.fcgi?book=gene&part=weill-ms.
- Q3961695 wikiPageWikiLink Q159701.
- Q3961695 wikiPageWikiLink Q168403.
- Q3961695 wikiPageWikiLink Q17927651.
- Q3961695 wikiPageWikiLink Q18028695.
- Q3961695 wikiPageWikiLink Q18047097.
- Q3961695 wikiPageWikiLink Q18052971.
- Q3961695 wikiPageWikiLink Q1827028.
- Q3961695 wikiPageWikiLink Q186380.
- Q3961695 wikiPageWikiLink Q200779.
- Q3961695 wikiPageWikiLink Q3857010.
- Q3961695 wikiPageWikiLink Q40821.
- Q3961695 wikiPageWikiLink Q42649.
- Q3961695 wikiPageWikiLink Q430024.
- Q3961695 wikiPageWikiLink Q6500135.
- Q3961695 wikiPageWikiLink Q6531938.
- Q3961695 wikiPageWikiLink Q7215443.
- Q3961695 wikiPageWikiLink Q7216519.
- Q3961695 wikiPageWikiLink Q896643.
- Q3961695 icd "759.89".
- Q3961695 name "Weill–Marchesani syndrome".
- Q3961695 omim "608328".
- Q3961695 type Disease.
- Q3961695 type Thing.
- Q3961695 type Q12136.
- Q3961695 comment "Weill–Marchesani syndrome (also known as Spherophakia-brachymorphia syndrome, congenital mesodermal dystrophy, and GEMSS syndrome) is a rare genetic disorder characterized by short stature; an unusually short, broad head (brachycephaly) and other facial abnormalities; hand defects, including unusually short fingers (brachydactyly); and distinctive eye (ocular) abnormalities.".
- Q3961695 label "Weill–Marchesani syndrome".
- Q3961695 depiction Marchesani2.gif.
- Q3961695 name "Weill–Marchesani syndrome".