Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Cockayne_syndrome> ?p ?o }
- Cockayne_syndrome abstract "Cockayne syndrome (CS) (also called Neill-Dingwall syndrome) is a rare autosomal recessive, neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), eye disorders and premature aging. Failure to thrive and neurological disorders are criteria for diagnosis, while photosensitivity, hearing loss, eye abnormalities, and cavities are other very common features. Problems with any or all of the internal organs are possible. It is associated with a group of disorders called leukodystrophies (conditions characterized by degradation of white matter). The underlying disorder is a defect in a DNA repair mechanism. Interestingly, unlike other defects of DNA repair, patients with CS are not predisposed to cancer or infection. Cockayne Syndrome is a rare but destructive disease usually resulting in death within the first or second decade of life. The mutation of specific genes in Cockayne Syndrome is known, but the widespread effects and its relationship with DNA repair is yet to be well understood.It is named after English physician Edward Alfred Cockayne (1880–1956) who first described it in 1936 and re-described in 1946 in a paper entitled “Dwarfism with Retinal Atrophy and Deafness”. Neill-Dingwall syndrome was named after Mary M. Dingwall and Catherine A. Neill. These women described the case of two brothers with Cockayne syndrome and assert it is the same disease described by Edward Alfred Cockayne. In their article the women contributed to the symptoms of the disease through their discovery of calcifications in the brain. They also compared Cockayne Syndrome to what is now known as Hutchinson-Gilford Progeria Syndrome (HGPS), then called progeria, due to the advanced aging that characterizes both disorders.".
- Cockayne_syndrome icd10 "Q87.1(ILDSQ87.110)".
- Cockayne_syndrome icd9 "759.8".
- Cockayne_syndrome meshId "D003057".
- Cockayne_syndrome omim "216400".
- Cockayne_syndrome wikiPageExternalLink ghr.nlm.nih.gov.
- Cockayne_syndrome wikiPageExternalLink www.amyandfriends.org.
- Cockayne_syndrome wikiPageExternalLink main.
- Cockayne_syndrome wikiPageID "1493053".
- Cockayne_syndrome wikiPageLength "15284".
- Cockayne_syndrome wikiPageOutDegree "48".
- Cockayne_syndrome wikiPageRevisionID "680424117".
- Cockayne_syndrome wikiPageWikiLink Accelerated_aging_disease.
- Cockayne_syndrome wikiPageWikiLink Autosomal.
- Cockayne_syndrome wikiPageWikiLink Autosome.
- Cockayne_syndrome wikiPageWikiLink Biogerontology.
- Cockayne_syndrome wikiPageWikiLink CAMFAK_syndrome.
- Cockayne_syndrome wikiPageWikiLink Cachetic.
- Cockayne_syndrome wikiPageWikiLink Cachexia.
- Cockayne_syndrome wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Cockayne_syndrome wikiPageWikiLink Category:DNA_replication_and_repair-deficiency_disorders.
- Cockayne_syndrome wikiPageWikiLink Category:Genodermatoses.
- Cockayne_syndrome wikiPageWikiLink Category:Neurological_disorders.
- Cockayne_syndrome wikiPageWikiLink Category:Progeroid_syndromes.
- Cockayne_syndrome wikiPageWikiLink Category:Rare_diseases.
- Cockayne_syndrome wikiPageWikiLink Category:Syndromes.
- Cockayne_syndrome wikiPageWikiLink Cerebellum.
- Cockayne_syndrome wikiPageWikiLink Cerebro-oculo-facio-skeletal.
- Cockayne_syndrome wikiPageWikiLink Cocaine.
- Cockayne_syndrome wikiPageWikiLink Cocaine_syndrome.
- Cockayne_syndrome wikiPageWikiLink Cockayne_syndrome.
- Cockayne_syndrome wikiPageWikiLink Congenital.
- Cockayne_syndrome wikiPageWikiLink Congenital_disorder.
- Cockayne_syndrome wikiPageWikiLink Corneal_opacity.
- Cockayne_syndrome wikiPageWikiLink DNA_repair.
- Cockayne_syndrome wikiPageWikiLink Degenerative_disease.
- Cockayne_syndrome wikiPageWikiLink Dominance_(genetics).
- Cockayne_syndrome wikiPageWikiLink Dwarfism.
- Cockayne_syndrome wikiPageWikiLink ERCC6.
- Cockayne_syndrome wikiPageWikiLink ERCC8.
- Cockayne_syndrome wikiPageWikiLink ERCC8_(gene).
- Cockayne_syndrome wikiPageWikiLink Edward_Alfred_Cockayne.
- Cockayne_syndrome wikiPageWikiLink File:Autorecessive.svg.
- Cockayne_syndrome wikiPageWikiLink Forebrain.
- Cockayne_syndrome wikiPageWikiLink Gene.
- Cockayne_syndrome wikiPageWikiLink Genetic_disorder.
- Cockayne_syndrome wikiPageWikiLink Gerontology.
- Cockayne_syndrome wikiPageWikiLink Hutchinson-Gilford_Progeria_Syndrome.
- Cockayne_syndrome wikiPageWikiLink ILDS.
- Cockayne_syndrome wikiPageWikiLink Joint_contractures.
- Cockayne_syndrome wikiPageWikiLink Kyphosis.
- Cockayne_syndrome wikiPageWikiLink Leukodystrophies.
- Cockayne_syndrome wikiPageWikiLink Leukodystrophy.
- Cockayne_syndrome wikiPageWikiLink Microcephaly.
- Cockayne_syndrome wikiPageWikiLink Nervous_system.
- Cockayne_syndrome wikiPageWikiLink Neurodegeneration.
- Cockayne_syndrome wikiPageWikiLink Neurodegenerative.
- Cockayne_syndrome wikiPageWikiLink Nystagmus.
- Cockayne_syndrome wikiPageWikiLink OMIM.
- Cockayne_syndrome wikiPageWikiLink Online_Mendelian_Inheritance_in_Man.
- Cockayne_syndrome wikiPageWikiLink Pena-Shokeir_Syndrome.
- Cockayne_syndrome wikiPageWikiLink Photosensitivity.
- Cockayne_syndrome wikiPageWikiLink Premature_aging.
- Cockayne_syndrome wikiPageWikiLink Progeria.
- Cockayne_syndrome wikiPageWikiLink Progeroid_syndromes.
- Cockayne_syndrome wikiPageWikiLink Putamen.
- Cockayne_syndrome wikiPageWikiLink Recessive.
- Cockayne_syndrome wikiPageWikiLink Sunlight.
- Cockayne_syndrome wikiPageWikiLink Syndrome.
- Cockayne_syndrome wikiPageWikiLink Telangiectasia.
- Cockayne_syndrome wikiPageWikiLink The_International_League_of_Dermatological_Societies.
- Cockayne_syndrome wikiPageWikiLink White_matter.
- Cockayne_syndrome wikiPageWikiLink Xeroderma_pigmentosum.
- Cockayne_syndrome wikiPageWikiLinkText "CSB".
- Cockayne_syndrome wikiPageWikiLinkText "Cockayne syndrome".
- Cockayne_syndrome wikiPageWikiLinkText "Cockayne's syndrome".
- Cockayne_syndrome wikiPageWikiLinkText "cockayne syndrome".
- Cockayne_syndrome caption "a child with cockayne syndrome".
- Cockayne_syndrome diseasesdb "2907".
- Cockayne_syndrome emedicinesubj "ped".
- Cockayne_syndrome emedicinetopic "424".
- Cockayne_syndrome hasPhotoCollection Cockayne_syndrome.
- Cockayne_syndrome icd "759.8".
- Cockayne_syndrome icd "Q87.1".
- Cockayne_syndrome meshid "D003057".
- Cockayne_syndrome name "Cockayne syndrome".
- Cockayne_syndrome omim "216400".
- Cockayne_syndrome wikiPageUsesTemplate Template:DNA_repair-deficiency_disorder.
- Cockayne_syndrome wikiPageUsesTemplate Template:GeneTests.
- Cockayne_syndrome wikiPageUsesTemplate Template:Hatlink.
- Cockayne_syndrome wikiPageUsesTemplate Template:Infobox_disease.
- Cockayne_syndrome wikiPageUsesTemplate Template:OMIM2.
- Cockayne_syndrome wikiPageUsesTemplate Template:Other_uses2.
- Cockayne_syndrome wikiPageUsesTemplate Template:Phakomatoses_and_other_congenital_malformations_not_elsewhere_classified.
- Cockayne_syndrome wikiPageUsesTemplate Template:Progeroid_syndromes.
- Cockayne_syndrome wikiPageUsesTemplate Template:Refimprove.
- Cockayne_syndrome wikiPageUsesTemplate Template:Reflist.
- Cockayne_syndrome subject Category:Autosomal_recessive_disorders.
- Cockayne_syndrome subject Category:DNA_replication_and_repair-deficiency_disorders.
- Cockayne_syndrome subject Category:Genodermatoses.