Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Kohlschütter-Tönz_syndrome> ?p ?o }
Showing triples 1 to 61 of
61
with 100 triples per page.
- Kohlschütter-Tönz_syndrome abstract "Kohlschütter-Tönz syndrome (KTS), also called Amelo-cerebro-hypohidrotic syndrome is a rare inherited syndrome characterized by epilepsy, dementia, intellectual disability, and yellow teeth caused by amelogenesis imperfecta (abnormal formation of tooth enamel). It is a type A ectodermal dysplasia.It is autosomal recessive and symptoms appear in early childhood. The syndrome was first described in 1974 by Alfried Kohlschütter and colleagues. Only 24 affected individuals are known as of 2012. The disease has not been connected to any other known epileptic syndromes. Some but not all cases are associated with mutations in a gene called ROGDI. Diagnoses of this syndrome have occurred in Switzerland, Sicily, the Northern Israel Druze community as well as some other parts of Western Europe.".
- Kohlschütter-Tönz_syndrome icd10 "G40.8".
- Kohlschütter-Tönz_syndrome omim "226750".
- Kohlschütter-Tönz_syndrome wikiPageExternalLink carddisp.pl?gene=ROGDI.
- Kohlschütter-Tönz_syndrome wikiPageID "37699515".
- Kohlschütter-Tönz_syndrome wikiPageLength "15753".
- Kohlschütter-Tönz_syndrome wikiPageOutDegree "20".
- Kohlschütter-Tönz_syndrome wikiPageRevisionID "671106288".
- Kohlschütter-Tönz_syndrome wikiPageWikiLink Amelogenesis_Imperfecta.
- Kohlschütter-Tönz_syndrome wikiPageWikiLink Amelogenesis_imperfecta.
- Kohlschütter-Tönz_syndrome wikiPageWikiLink Autosomal_recessive.
- Kohlschütter-Tönz_syndrome wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Kohlschütter-Tönz_syndrome wikiPageWikiLink Category:Developmental_tooth_disorders.
- Kohlschütter-Tönz_syndrome wikiPageWikiLink Category:Epilepsy_types.
- Kohlschütter-Tönz_syndrome wikiPageWikiLink Category:Neurogenetic_disorders.
- Kohlschütter-Tönz_syndrome wikiPageWikiLink Category:Rare_diseases.
- Kohlschütter-Tönz_syndrome wikiPageWikiLink Category:Syndromes.
- Kohlschütter-Tönz_syndrome wikiPageWikiLink Dementia.
- Kohlschütter-Tönz_syndrome wikiPageWikiLink Dominance_(genetics).
- Kohlschütter-Tönz_syndrome wikiPageWikiLink Druze.
- Kohlschütter-Tönz_syndrome wikiPageWikiLink Ectodermal_dysplasia.
- Kohlschütter-Tönz_syndrome wikiPageWikiLink Electroencephalography.
- Kohlschütter-Tönz_syndrome wikiPageWikiLink Epilepsy.
- Kohlschütter-Tönz_syndrome wikiPageWikiLink Intellectual_disability.
- Kohlschütter-Tönz_syndrome wikiPageWikiLink Leucine_zipper.
- Kohlschütter-Tönz_syndrome wikiPageWikiLink Magnetic_Resonance_Imaging.
- Kohlschütter-Tönz_syndrome wikiPageWikiLink Magnetic_resonance_imaging.
- Kohlschütter-Tönz_syndrome wikiPageWikiLink Microcephaly.
- Kohlschütter-Tönz_syndrome wikiPageWikiLink Palpebral_fissure.
- Kohlschütter-Tönz_syndrome wikiPageWikiLink Palpebral_fissures.
- Kohlschütter-Tönz_syndrome wikiPageWikiLink Philtrum.
- Kohlschütter-Tönz_syndrome wikiPageWikiLinkText "Kohlschütter-Tönz syndrome".
- Kohlschütter-Tönz_syndrome course "Education Program:Georgia Institute of Technology/Introduction to Neuroscience".
- Kohlschütter-Tönz_syndrome diseasesdb "32947".
- Kohlschütter-Tönz_syndrome hasPhotoCollection Kohlschütter-Tönz_syndrome.
- Kohlschütter-Tönz_syndrome icd "G40.8".
- Kohlschütter-Tönz_syndrome name "Kohlschütter-Tönz syndrome".
- Kohlschütter-Tönz_syndrome omim "226750".
- Kohlschütter-Tönz_syndrome term "2013".
- Kohlschütter-Tönz_syndrome wikiPageUsesTemplate Template:Course_assignment.
- Kohlschütter-Tönz_syndrome wikiPageUsesTemplate Template:Infobox_disease.
- Kohlschütter-Tönz_syndrome wikiPageUsesTemplate Template:Reflist.
- Kohlschütter-Tönz_syndrome wikiPageUsesTemplate Template:Seizures_and_epilepsy.
- Kohlschütter-Tönz_syndrome wikiPageUsesTemplate Template:Tooth_disease.
- Kohlschütter-Tönz_syndrome subject Category:Autosomal_recessive_disorders.
- Kohlschütter-Tönz_syndrome subject Category:Developmental_tooth_disorders.
- Kohlschütter-Tönz_syndrome subject Category:Epilepsy_types.
- Kohlschütter-Tönz_syndrome subject Category:Neurogenetic_disorders.
- Kohlschütter-Tönz_syndrome subject Category:Rare_diseases.
- Kohlschütter-Tönz_syndrome subject Category:Syndromes.
- Kohlschütter-Tönz_syndrome type Disease.
- Kohlschütter-Tönz_syndrome type Thing.
- Kohlschütter-Tönz_syndrome type Q12136.
- Kohlschütter-Tönz_syndrome comment "Kohlschütter-Tönz syndrome (KTS), also called Amelo-cerebro-hypohidrotic syndrome is a rare inherited syndrome characterized by epilepsy, dementia, intellectual disability, and yellow teeth caused by amelogenesis imperfecta (abnormal formation of tooth enamel). It is a type A ectodermal dysplasia.It is autosomal recessive and symptoms appear in early childhood. The syndrome was first described in 1974 by Alfried Kohlschütter and colleagues. Only 24 affected individuals are known as of 2012.".
- Kohlschütter-Tönz_syndrome label "Kohlschütter-Tönz syndrome".
- Kohlschütter-Tönz_syndrome sameAs m.0ndwpw6.
- Kohlschütter-Tönz_syndrome sameAs Q6426064.
- Kohlschütter-Tönz_syndrome sameAs Q6426064.
- Kohlschütter-Tönz_syndrome wasDerivedFrom Kohlschütter-Tönz_syndrome?oldid=671106288.
- Kohlschütter-Tönz_syndrome isPrimaryTopicOf Kohlschütter-Tönz_syndrome.
- Kohlschütter-Tönz_syndrome name "Kohlschütter-Tönz syndrome".