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- Q931538 subject Q6902379.
- Q931538 subject Q6902466.
- Q931538 subject Q7195658.
- Q931538 subject Q7215462.
- Q931538 abstract "Mucolipidosis type IV (ML IV or ML4) is an autosomal recessive lysosomal storage disorder. Individuals with the disorder have many symptoms including delayed psychomotor development and various ocular aberrations. The disorder is caused by mutations in the MCOLN1 gene, which encodes a non-selective cation channel, mucolipin1. These mutations disrupt cellular functions and lead to a neurodevelopmental disorder through an unknown mechanism. Researchers dispute the physiological role of the protein product and which ion it transports.".
- Q931538 icd10 "E75.1".
- Q931538 meshId "D009081".
- Q931538 omim "252650".
- Q931538 thumbnail Autorecessive.svg?width=300.
- Q931538 wikiPageExternalLink ml4.org.
- Q931538 wikiPageExternalLink www.genetests.org.
- Q931538 wikiPageWikiLink Q1135124.
- Q931538 wikiPageWikiLink Q1313081.
- Q931538 wikiPageWikiLink Q14863369.
- Q931538 wikiPageWikiLink Q14914269.
- Q931538 wikiPageWikiLink Q161437.
- Q931538 wikiPageWikiLink Q168291.
- Q931538 wikiPageWikiLink Q169342.
- Q931538 wikiPageWikiLink Q186380.
- Q931538 wikiPageWikiLink Q189814.
- Q931538 wikiPageWikiLink Q1952032.
- Q931538 wikiPageWikiLink Q210427.
- Q931538 wikiPageWikiLink Q2463100.
- Q931538 wikiPageWikiLink Q310425.
- Q931538 wikiPageWikiLink Q323426.
- Q931538 wikiPageWikiLink Q340548.
- Q931538 wikiPageWikiLink Q34069.
- Q931538 wikiPageWikiLink Q36496.
- Q931538 wikiPageWikiLink Q5445.
- Q931538 wikiPageWikiLink Q62536.
- Q931538 wikiPageWikiLink Q6531938.
- Q931538 wikiPageWikiLink Q675010.
- Q931538 wikiPageWikiLink Q677.
- Q931538 wikiPageWikiLink Q6902379.
- Q931538 wikiPageWikiLink Q6902466.
- Q931538 wikiPageWikiLink Q7195658.
- Q931538 wikiPageWikiLink Q7215462.
- Q931538 wikiPageWikiLink Q824237.
- Q931538 icd "E75.1".
- Q931538 meshid "D009081".
- Q931538 name "Mucolipidosis type IV".
- Q931538 omim "252650".
- Q931538 type Disease.
- Q931538 type Thing.
- Q931538 type Q12136.
- Q931538 comment "Mucolipidosis type IV (ML IV or ML4) is an autosomal recessive lysosomal storage disorder. Individuals with the disorder have many symptoms including delayed psychomotor development and various ocular aberrations. The disorder is caused by mutations in the MCOLN1 gene, which encodes a non-selective cation channel, mucolipin1. These mutations disrupt cellular functions and lead to a neurodevelopmental disorder through an unknown mechanism.".
- Q931538 label "Mucolipidosis type IV".
- Q931538 depiction Autorecessive.svg.
- Q931538 name "Mucolipidosis type IV".