Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Mucolipidosis_type_IV> ?p ?o }
Showing triples 1 to 82 of
82
with 100 triples per page.
- Mucolipidosis_type_IV 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.".
- Mucolipidosis_type_IV icd10 "E75.1".
- Mucolipidosis_type_IV meshId "D009081".
- Mucolipidosis_type_IV omim "252650".
- Mucolipidosis_type_IV thumbnail Autorecessive.svg?width=300.
- Mucolipidosis_type_IV wikiPageExternalLink ml4.org.
- Mucolipidosis_type_IV wikiPageExternalLink www.genetests.org.
- Mucolipidosis_type_IV wikiPageID "5881304".
- Mucolipidosis_type_IV wikiPageLength "8695".
- Mucolipidosis_type_IV wikiPageOutDegree "29".
- Mucolipidosis_type_IV wikiPageRevisionID "705502381".
- Mucolipidosis_type_IV wikiPageWikiLink Achlorhydria.
- Mucolipidosis_type_IV wikiPageWikiLink Agenesis_of_the_corpus_callosum.
- Mucolipidosis_type_IV wikiPageWikiLink Anemia.
- Mucolipidosis_type_IV wikiPageWikiLink Ashkenazi_Jews.
- Mucolipidosis_type_IV wikiPageWikiLink Autosome.
- Mucolipidosis_type_IV wikiPageWikiLink C-terminus.
- Mucolipidosis_type_IV wikiPageWikiLink Category:Ashkenazi_Jews_topics.
- Mucolipidosis_type_IV wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Mucolipidosis_type_IV wikiPageWikiLink Category:Channelopathy.
- Mucolipidosis_type_IV wikiPageWikiLink Category:Lysosomal_storage_diseases.
- Mucolipidosis_type_IV wikiPageWikiLink Cerebral_palsy.
- Mucolipidosis_type_IV wikiPageWikiLink Cornea.
- Mucolipidosis_type_IV wikiPageWikiLink Dominance_(genetics).
- Mucolipidosis_type_IV wikiPageWikiLink Endocytosis.
- Mucolipidosis_type_IV wikiPageWikiLink Endosome.
- Mucolipidosis_type_IV wikiPageWikiLink Exocytosis.
- Mucolipidosis_type_IV wikiPageWikiLink File:Autorecessive.svg.
- Mucolipidosis_type_IV wikiPageWikiLink Gastrin.
- Mucolipidosis_type_IV wikiPageWikiLink Ion.
- Mucolipidosis_type_IV wikiPageWikiLink Ion_channel.
- Mucolipidosis_type_IV wikiPageWikiLink Iron.
- Mucolipidosis_type_IV wikiPageWikiLink Iron_deficiency.
- Mucolipidosis_type_IV wikiPageWikiLink Lysosomal_storage_disease.
- Mucolipidosis_type_IV wikiPageWikiLink MCOLN1.
- Mucolipidosis_type_IV wikiPageWikiLink Motor_coordination.
- Mucolipidosis_type_IV wikiPageWikiLink Mucolipidosis.
- Mucolipidosis_type_IV wikiPageWikiLink Ophthalmology.
- Mucolipidosis_type_IV wikiPageWikiLink Retina.
- Mucolipidosis_type_IV wikiPageWikiLinkText "Mucolipidin 1 deficiency".
- Mucolipidosis_type_IV wikiPageWikiLinkText "Mucolipidosis type IV".
- Mucolipidosis_type_IV wikiPageWikiLinkText "mucolipidosis type IV".
- Mucolipidosis_type_IV diseasesdb "32693".
- Mucolipidosis_type_IV genereviewsname "Mucolipidosis IV".
- Mucolipidosis_type_IV genereviewsnbk "NBK1214".
- Mucolipidosis_type_IV icd "E75.1".
- Mucolipidosis_type_IV meshid "D009081".
- Mucolipidosis_type_IV name "Mucolipidosis type IV".
- Mucolipidosis_type_IV omim "252650".
- Mucolipidosis_type_IV wikiPageUsesTemplate Template:Channelopathy.
- Mucolipidosis_type_IV wikiPageUsesTemplate Template:Citation_needed.
- Mucolipidosis_type_IV wikiPageUsesTemplate Template:Glycoproteinoses.
- Mucolipidosis_type_IV wikiPageUsesTemplate Template:Infobox_disease.
- Mucolipidosis_type_IV wikiPageUsesTemplate Template:Lipid_storage_disorders.
- Mucolipidosis_type_IV wikiPageUsesTemplate Template:RareDiseases.
- Mucolipidosis_type_IV wikiPageUsesTemplate Template:Refimprove.
- Mucolipidosis_type_IV wikiPageUsesTemplate Template:Reflist.
- Mucolipidosis_type_IV subject Category:Ashkenazi_Jews_topics.
- Mucolipidosis_type_IV subject Category:Autosomal_recessive_disorders.
- Mucolipidosis_type_IV subject Category:Channelopathy.
- Mucolipidosis_type_IV subject Category:Lysosomal_storage_diseases.
- Mucolipidosis_type_IV hypernym Disorder.
- Mucolipidosis_type_IV type Disease.
- Mucolipidosis_type_IV type Group.
- Mucolipidosis_type_IV type Channel.
- Mucolipidosis_type_IV type Disorder.
- Mucolipidosis_type_IV type Error.
- Mucolipidosis_type_IV type Group.
- Mucolipidosis_type_IV type Thing.
- Mucolipidosis_type_IV type Q12136.
- Mucolipidosis_type_IV 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.".
- Mucolipidosis_type_IV label "Mucolipidosis type IV".
- Mucolipidosis_type_IV sameAs Q931538.
- Mucolipidosis_type_IV sameAs موکولیپیدوز_نوع_چهار.
- Mucolipidosis_type_IV sameAs Mucolipidose_type_4.
- Mucolipidosis_type_IV sameAs m.0fbl7g.
- Mucolipidosis_type_IV sameAs Сиалолипидоз.
- Mucolipidosis_type_IV sameAs Q931538.
- Mucolipidosis_type_IV wasDerivedFrom Mucolipidosis_type_IV?oldid=705502381.
- Mucolipidosis_type_IV depiction Autorecessive.svg.
- Mucolipidosis_type_IV isPrimaryTopicOf Mucolipidosis_type_IV.
- Mucolipidosis_type_IV name "Mucolipidosis type IV".