Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Roberts_syndrome> ?p ?o }
Showing triples 1 to 93 of
93
with 100 triples per page.
- Roberts_syndrome abstract "Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs.Roberts syndrome is also known by many other names, including: Hypomelia-Hypotrichosis-Facial Hemangioma Syndrome, SC Syndrome (once thought to be an entirely separate disease), Pseudothalidomide Syndrome, Roberts-SC Phocomelia Syndrome, SC Phocomelia Syndrome, Appelt-Gerken-Lenz Syndrome, RBS, SC Pseudothalidomide Syndrome, and Tetraphocomelia-Cleft Palate Syndrome. It is a genetic disorder caused by the mutation of the ESCO2 gene on 8th chromosome. Named after John B. Roberts, who first described the syndrome in 1919, it is one of the rarest autosomal recessive disorders, affecting approximately 150 known individuals.The Syndrome is both autosomal, in that there are equal numbers of copies of the gene in both males and females, and recessive, meaning the child must inherit the defective gene from both parents. The mutation causes cell division to occur slowly or unevenly, and the cells with abnormal genetic content die. Roberts syndrome can affect both males and females. Although the disorder is rare, the affected group is diverse. The mortality rate is high in severely affected individuals.".
- Roberts_syndrome icd10 "Q73.8".
- Roberts_syndrome omim "268300".
- Roberts_syndrome thumbnail Virchow_fetus_1898.JPG?width=300.
- Roberts_syndrome wikiPageExternalLink roberts-syndrome.
- Roberts_syndrome wikiPageExternalLink condition=robertssyndrome.
- Roberts_syndrome wikiPageExternalLink 042205.htm.
- Roberts_syndrome wikiPageExternalLink www.TheFetus.net.
- Roberts_syndrome wikiPageExternalLink www.about.com.
- Roberts_syndrome wikiPageExternalLink 04_11_05.html.
- Roberts_syndrome wikiPageExternalLink br.fcgi?book=gene&part=rbs.
- Roberts_syndrome wikiPageExternalLink encephaloceles.htm.
- Roberts_syndrome wikiPageExternalLink rdbdetail_abstract.html?disname=Roberts%20Syndrome.
- Roberts_syndrome wikiPageExternalLink page.php?id=370.
- Roberts_syndrome wikiPageID "26855929".
- Roberts_syndrome wikiPageLength "17899".
- Roberts_syndrome wikiPageOutDegree "41".
- Roberts_syndrome wikiPageRevisionID "668494938".
- Roberts_syndrome wikiPageWikiLink Autosomal.
- Roberts_syndrome wikiPageWikiLink Autosome.
- Roberts_syndrome wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Roberts_syndrome wikiPageWikiLink Category:Cytogenetics.
- Roberts_syndrome wikiPageWikiLink Category:Rare_diseases.
- Roberts_syndrome wikiPageWikiLink Category:Syndromes.
- Roberts_syndrome wikiPageWikiLink Cell_division.
- Roberts_syndrome wikiPageWikiLink Centromere.
- Roberts_syndrome wikiPageWikiLink Chromosome_8_(human).
- Roberts_syndrome wikiPageWikiLink Cleft_Lip.
- Roberts_syndrome wikiPageWikiLink Cleft_Palate.
- Roberts_syndrome wikiPageWikiLink Cleft_lip_and_palate.
- Roberts_syndrome wikiPageWikiLink Clinodactyly.
- Roberts_syndrome wikiPageWikiLink Cytogenetics.
- Roberts_syndrome wikiPageWikiLink Dominance_(genetics).
- Roberts_syndrome wikiPageWikiLink ESCO2.
- Roberts_syndrome wikiPageWikiLink Encephalocele.
- Roberts_syndrome wikiPageWikiLink Exophthalmos.
- Roberts_syndrome wikiPageWikiLink Genetic_disorder.
- Roberts_syndrome wikiPageWikiLink Heterozygotes.
- Roberts_syndrome wikiPageWikiLink Hypertelorism.
- Roberts_syndrome wikiPageWikiLink Hypoplasia.
- Roberts_syndrome wikiPageWikiLink Intellectual_disability.
- Roberts_syndrome wikiPageWikiLink John_B._Roberts.
- Roberts_syndrome wikiPageWikiLink Malar_Hypoplasia.
- Roberts_syndrome wikiPageWikiLink Micrognathia.
- Roberts_syndrome wikiPageWikiLink Micrognathism.
- Roberts_syndrome wikiPageWikiLink National_University_of_Colombia.
- Roberts_syndrome wikiPageWikiLink Oligodactyly.
- Roberts_syndrome wikiPageWikiLink Palpebral_fissure.
- Roberts_syndrome wikiPageWikiLink Palpebral_fissures.
- Roberts_syndrome wikiPageWikiLink Recessive.
- Roberts_syndrome wikiPageWikiLink Syndactyly.
- Roberts_syndrome wikiPageWikiLink Tetraphocomelia.
- Roberts_syndrome wikiPageWikiLink Thalidomide.
- Roberts_syndrome wikiPageWikiLink Universidad_Nacional_de_Colombia.
- Roberts_syndrome wikiPageWikiLink Zygosity.
- Roberts_syndrome wikiPageWikiLink File:Roberts.jpeg.
- Roberts_syndrome wikiPageWikiLink File:Roberts_Syndrome.jpg.
- Roberts_syndrome wikiPageWikiLink File:Roberts_synd.JPG.
- Roberts_syndrome wikiPageWikiLinkText "Appelt–Gerken–Lenz syndrome".
- Roberts_syndrome wikiPageWikiLinkText "Roberts syndrome".
- Roberts_syndrome genereviewsname "Roberts syndrome".
- Roberts_syndrome genereviewsnbk "NBK1153".
- Roberts_syndrome hasPhotoCollection Roberts_syndrome.
- Roberts_syndrome icd "Q73.8".
- Roberts_syndrome name "Roberts syndrome".
- Roberts_syndrome omim "268300".
- Roberts_syndrome wikiPageUsesTemplate Template:Chromosomal_abnormalities.
- Roberts_syndrome wikiPageUsesTemplate Template:Infobox_disease.
- Roberts_syndrome wikiPageUsesTemplate Template:MeshName.
- Roberts_syndrome wikiPageUsesTemplate Template:Use_dmy_dates.
- Roberts_syndrome subject Category:Autosomal_recessive_disorders.
- Roberts_syndrome subject Category:Cytogenetics.
- Roberts_syndrome subject Category:Rare_diseases.
- Roberts_syndrome subject Category:Syndromes.
- Roberts_syndrome type Disease.
- Roberts_syndrome type Disorder.
- Roberts_syndrome type Syndrome.
- Roberts_syndrome type Thing.
- Roberts_syndrome type Q12136.
- Roberts_syndrome comment "Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs.Roberts syndrome is also known by many other names, including: Hypomelia-Hypotrichosis-Facial Hemangioma Syndrome, SC Syndrome (once thought to be an entirely separate disease), Pseudothalidomide Syndrome, Roberts-SC Phocomelia Syndrome, SC Phocomelia Syndrome, Appelt-Gerken-Lenz Syndrome, RBS, SC Pseudothalidomide Syndrome, and Tetraphocomelia-Cleft Palate Syndrome. ".
- Roberts_syndrome label "Roberts syndrome".
- Roberts_syndrome sameAs Roberts-Syndrom.
- Roberts_syndrome sameAs Síndrome_de_Roberts.
- Roberts_syndrome sameAs نشانگان_روبرت.
- Roberts_syndrome sameAs Syndrome_de_Roberts.
- Roberts_syndrome sameAs Zespół_Robertsa.
- Roberts_syndrome sameAs m.0bm8jxd.
- Roberts_syndrome sameAs Q619428.
- Roberts_syndrome sameAs Q619428.
- Roberts_syndrome wasDerivedFrom Roberts_syndrome?oldid=668494938.
- Roberts_syndrome depiction Virchow_fetus_1898.JPG.
- Roberts_syndrome isPrimaryTopicOf Roberts_syndrome.
- Roberts_syndrome name "Roberts syndrome".