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- Q17332514 subject Q8413585.
- Q17332514 abstract "Knobloch syndrome is a rare genetic disorder presenting severe eyesight problems and often a defect in the skull. A usual occurrence is a degeneration of the vitreous humour and the retina, two components of the eye. This breakdown often results in the separation of the retina (the light-sensitive tissue at the back of the eye) from the eye, called retinal detachment, which can be recurrent.Knobloch syndrome is caused by mutations in an autosomal recessive inherited gene. These mutations have been found in the COL18A1 gene that instructs for the formation of a protein that builds collagen XVIII. This type of collagen is found in the basement membranes of various body tissues. Its deficiency in the eye is thought to be responsible for affecting normal eye development. There are three types of Knobloch syndrome. When caused by mutations in the COL18A1 gene it is called Knobloch syndrome type 1. The genes causing types II and III have yet to be identified.Knobloch syndrome is also characterised by cataracts, dislocated lens with skull defects such as occipital encephalocele and occipital aplasia. Encephalocele is a neural tube defect where the skull has not completely closed and sac-like protrusions of the brain can push through the skull; (it can also result from other causes).In Knobloch’s syndrome this is usually seen in the occipital region, and aplasia is the underdevelopment of tissue again in this reference in the occipital area. It is named after Knobloch who first described the syndrome in 1971.".
- Q17332514 wikiPageWikiLink Q1127402.
- Q17332514 wikiPageWikiLink Q127724.
- Q17332514 wikiPageWikiLink Q1346023.
- Q17332514 wikiPageWikiLink Q15467261.
- Q17332514 wikiPageWikiLink Q162668.
- Q17332514 wikiPageWikiLink Q169342.
- Q17332514 wikiPageWikiLink Q18046800.
- Q17332514 wikiPageWikiLink Q200779.
- Q17332514 wikiPageWikiLink Q26868.
- Q17332514 wikiPageWikiLink Q326710.
- Q17332514 wikiPageWikiLink Q32846.
- Q17332514 wikiPageWikiLink Q3321315.
- Q17332514 wikiPageWikiLink Q5488.
- Q17332514 wikiPageWikiLink Q625164.
- Q17332514 wikiPageWikiLink Q6531938.
- Q17332514 wikiPageWikiLink Q7187.
- Q17332514 wikiPageWikiLink Q8413585.
- Q17332514 wikiPageWikiLink Q9604.
- Q17332514 comment "Knobloch syndrome is a rare genetic disorder presenting severe eyesight problems and often a defect in the skull. A usual occurrence is a degeneration of the vitreous humour and the retina, two components of the eye. This breakdown often results in the separation of the retina (the light-sensitive tissue at the back of the eye) from the eye, called retinal detachment, which can be recurrent.Knobloch syndrome is caused by mutations in an autosomal recessive inherited gene.".
- Q17332514 label "Knobloch syndrome".