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- Q3042171 subject Q6853345.
- Q3042171 subject Q6853484.
- Q3042171 subject Q6985910.
- Q3042171 abstract "Oculopharyngeal muscular dystrophy (OPMD) can be autosomal dominant neuromuscular disease or autosomal recessive which appears in early middle age (fifth decade). The most common inheritance of OPMD is autosomal dominant, which means only one copy of the mutated gene needs to be present in each cell. Children of an affected parent have a 50% chance of inheriting the mutant gene. Generally, autosomal dominant inheritance have a strong family tie. Less commonly, OPMD can be inherited in an autosomal recessive pattern, which means that two copies of the mutated gene need to be present in each cell, both parents need to be carriers of the mutated gene, and usually show no signs or symptoms. The PABPN1 mutation contains a GCG trinucleotide repeat at the 5' end of the coding region, and expansion of this repeat from the normal 6 copies to 8-13 copies which then leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease.".
- Q3042171 icd10 "G71.0".
- Q3042171 icd9 "359.1".
- Q3042171 meshId "D039141".
- Q3042171 omim "164300".
- Q3042171 thumbnail MuscularDystrophy.png?width=300.
- Q3042171 wikiPageExternalLink www.mdahellas.gr.
- Q3042171 wikiPageExternalLink br.fcgi?book=gene&part=opmd.
- Q3042171 wikiPageWikiLink Q1137767.
- Q3042171 wikiPageWikiLink Q1202615.
- Q3042171 wikiPageWikiLink Q14864292.
- Q3042171 wikiPageWikiLink Q186380.
- Q3042171 wikiPageWikiLink Q194520.
- Q3042171 wikiPageWikiLink Q2094702.
- Q3042171 wikiPageWikiLink Q488415.
- Q3042171 wikiPageWikiLink Q533979.
- Q3042171 wikiPageWikiLink Q622427.
- Q3042171 wikiPageWikiLink Q623289.
- Q3042171 wikiPageWikiLink Q6531938.
- Q3042171 wikiPageWikiLink Q6853345.
- Q3042171 wikiPageWikiLink Q6853484.
- Q3042171 wikiPageWikiLink Q6881881.
- Q3042171 wikiPageWikiLink Q6985910.
- Q3042171 wikiPageWikiLink Q8285.
- Q3042171 icd "359.1".
- Q3042171 icd "G71.0".
- Q3042171 meshid "D039141".
- Q3042171 name "Oculopharyngeal muscular dystrophy".
- Q3042171 omim "164300".
- Q3042171 type Disease.
- Q3042171 type Thing.
- Q3042171 type Q12136.
- Q3042171 comment "Oculopharyngeal muscular dystrophy (OPMD) can be autosomal dominant neuromuscular disease or autosomal recessive which appears in early middle age (fifth decade). The most common inheritance of OPMD is autosomal dominant, which means only one copy of the mutated gene needs to be present in each cell. Children of an affected parent have a 50% chance of inheriting the mutant gene. Generally, autosomal dominant inheritance have a strong family tie.".
- Q3042171 label "Oculopharyngeal muscular dystrophy".
- Q3042171 depiction MuscularDystrophy.png.
- Q3042171 name "Oculopharyngeal muscular dystrophy".