Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Oculopharyngeal_muscular_dystrophy> ?p ?o }
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- Oculopharyngeal_muscular_dystrophy 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.".
- Oculopharyngeal_muscular_dystrophy icd10 "G71.0".
- Oculopharyngeal_muscular_dystrophy icd9 "359.1".
- Oculopharyngeal_muscular_dystrophy meshId "D039141".
- Oculopharyngeal_muscular_dystrophy omim "164300".
- Oculopharyngeal_muscular_dystrophy thumbnail MuscularDystrophy.png?width=300.
- Oculopharyngeal_muscular_dystrophy wikiPageExternalLink www.mdahellas.gr.
- Oculopharyngeal_muscular_dystrophy wikiPageExternalLink br.fcgi?book=gene&part=opmd.
- Oculopharyngeal_muscular_dystrophy wikiPageID "1039516".
- Oculopharyngeal_muscular_dystrophy wikiPageLength "6470".
- Oculopharyngeal_muscular_dystrophy wikiPageOutDegree "18".
- Oculopharyngeal_muscular_dystrophy wikiPageRevisionID "678990485".
- Oculopharyngeal_muscular_dystrophy wikiPageWikiLink Anatomical_terms_of_location.
- Oculopharyngeal_muscular_dystrophy wikiPageWikiLink Atrophy.
- Oculopharyngeal_muscular_dystrophy wikiPageWikiLink Autosome.
- Oculopharyngeal_muscular_dystrophy wikiPageWikiLink Category:Autosomal_dominant_disorders.
- Oculopharyngeal_muscular_dystrophy wikiPageWikiLink Category:Muscular_dystrophy.
- Oculopharyngeal_muscular_dystrophy wikiPageWikiLink Category:Rare_diseases.
- Oculopharyngeal_muscular_dystrophy wikiPageWikiLink Dominance_(genetics).
- Oculopharyngeal_muscular_dystrophy wikiPageWikiLink Dysphagia.
- Oculopharyngeal_muscular_dystrophy wikiPageWikiLink Dystrophin.
- Oculopharyngeal_muscular_dystrophy wikiPageWikiLink Extraocular_muscles.
- Oculopharyngeal_muscular_dystrophy wikiPageWikiLink Middle_age.
- Oculopharyngeal_muscular_dystrophy wikiPageWikiLink Mitochondrial_myopathy.
- Oculopharyngeal_muscular_dystrophy wikiPageWikiLink Muscle_biopsy.
- Oculopharyngeal_muscular_dystrophy wikiPageWikiLink Muscular_dystrophy.
- Oculopharyngeal_muscular_dystrophy wikiPageWikiLink Myasthenia_gravis.
- Oculopharyngeal_muscular_dystrophy wikiPageWikiLink Ptosis_(eyelid).
- Oculopharyngeal_muscular_dystrophy wikiPageWikiLinkText "Oculopharyngeal muscular dystrophy".
- Oculopharyngeal_muscular_dystrophy wikiPageWikiLinkText "oculopharyngeal muscular dystrophy".
- Oculopharyngeal_muscular_dystrophy wikiPageWikiLinkText "oculopharyngeal".
- Oculopharyngeal_muscular_dystrophy caption "In affected muscle the tissue becomes disorganized and the concentration of dystrophin is greatly reduced, compared to normal muscle .".
- Oculopharyngeal_muscular_dystrophy diseasesdb "29869".
- Oculopharyngeal_muscular_dystrophy genereviewsname "Oculopharyngeal Muscular Dystrophy".
- Oculopharyngeal_muscular_dystrophy genereviewsnbk "NBK1126".
- Oculopharyngeal_muscular_dystrophy icd "359.1".
- Oculopharyngeal_muscular_dystrophy icd "G71.0".
- Oculopharyngeal_muscular_dystrophy meshid "D039141".
- Oculopharyngeal_muscular_dystrophy name "Oculopharyngeal muscular dystrophy".
- Oculopharyngeal_muscular_dystrophy omim "164300".
- Oculopharyngeal_muscular_dystrophy wikiPageUsesTemplate Template:Diseases_of_myoneural_junction_and_muscle.
- Oculopharyngeal_muscular_dystrophy wikiPageUsesTemplate Template:Disorders_of_transcription_and_post_transcriptional_modification.
- Oculopharyngeal_muscular_dystrophy wikiPageUsesTemplate Template:GeneTests.
- Oculopharyngeal_muscular_dystrophy wikiPageUsesTemplate Template:Infobox_disease.
- Oculopharyngeal_muscular_dystrophy wikiPageUsesTemplate Template:Muscular_Dystrophy.
- Oculopharyngeal_muscular_dystrophy wikiPageUsesTemplate Template:RareDiseases.
- Oculopharyngeal_muscular_dystrophy wikiPageUsesTemplate Template:Reflist.
- Oculopharyngeal_muscular_dystrophy subject Category:Autosomal_dominant_disorders.
- Oculopharyngeal_muscular_dystrophy subject Category:Muscular_dystrophy.
- Oculopharyngeal_muscular_dystrophy subject Category:Rare_diseases.
- Oculopharyngeal_muscular_dystrophy type Disease.
- Oculopharyngeal_muscular_dystrophy type Disorder.
- Oculopharyngeal_muscular_dystrophy type Thing.
- Oculopharyngeal_muscular_dystrophy type Q12136.
- Oculopharyngeal_muscular_dystrophy 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.".
- Oculopharyngeal_muscular_dystrophy label "Oculopharyngeal muscular dystrophy".
- Oculopharyngeal_muscular_dystrophy sameAs Q3042171.
- Oculopharyngeal_muscular_dystrophy sameAs Distrofia_muscular_oculofaríngea.
- Oculopharyngeal_muscular_dystrophy sameAs Dystrophie_musculaire_oculo-pharyngée.
- Oculopharyngeal_muscular_dystrophy sameAs m.040nl9.
- Oculopharyngeal_muscular_dystrophy sameAs Q3042171.
- Oculopharyngeal_muscular_dystrophy wasDerivedFrom Oculopharyngeal_muscular_dystrophy?oldid=678990485.
- Oculopharyngeal_muscular_dystrophy depiction MuscularDystrophy.png.
- Oculopharyngeal_muscular_dystrophy isPrimaryTopicOf Oculopharyngeal_muscular_dystrophy.
- Oculopharyngeal_muscular_dystrophy name "Oculopharyngeal muscular dystrophy".