Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Craniofrontonasal_dysplasia> ?p ?o }
Showing triples 1 to 46 of
46
with 100 triples per page.
- Craniofrontonasal_dysplasia abstract "Craniofrontonasal dysplasia (craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very rare X-linked malformation syndrome caused by mutations in the ephrin-B1 gene (EFNB1). Phenotypic expression varies greatly amongst affected individuals, where females are more commonly and generally more severely affected than males.Common physical malformations are: craniosynostosis of the coronal suture(s), orbital hypertelorism, bifid nasal tip, dry frizzy curled hair, longitudinal ridging and/or splitting of the nails, and facial asymmetry.The diagnosis CFND is determined by the presence of a mutation in the EFNB1 gene. Physical characteristics may play a supportive role in establishing the diagnosis.The treatment is always surgical and is based on each patients specific phenotypic presentation.".
- Craniofrontonasal_dysplasia thumbnail CFND_CT-scan.jpg?width=300.
- Craniofrontonasal_dysplasia wikiPageID "7371336".
- Craniofrontonasal_dysplasia wikiPageLength "16425".
- Craniofrontonasal_dysplasia wikiPageOutDegree "34".
- Craniofrontonasal_dysplasia wikiPageRevisionID "675284917".
- Craniofrontonasal_dysplasia wikiPageWikiLink Amniocentesis.
- Craniofrontonasal_dysplasia wikiPageWikiLink Category:Extracellular_ligand_disorders.
- Craniofrontonasal_dysplasia wikiPageWikiLink Category:X-linked_dominant_disorders.
- Craniofrontonasal_dysplasia wikiPageWikiLink Chorionic_villus_sampling.
- Craniofrontonasal_dysplasia wikiPageWikiLink Clinodactyly.
- Craniofrontonasal_dysplasia wikiPageWikiLink Coronal_suture.
- Craniofrontonasal_dysplasia wikiPageWikiLink Craniosynostosis.
- Craniofrontonasal_dysplasia wikiPageWikiLink EFNB1.
- Craniofrontonasal_dysplasia wikiPageWikiLink Genetic_counseling.
- Craniofrontonasal_dysplasia wikiPageWikiLink Hypertelorism.
- Craniofrontonasal_dysplasia wikiPageWikiLink Intracranial_pressure.
- Craniofrontonasal_dysplasia wikiPageWikiLink Maxillary_hypoplasia.
- Craniofrontonasal_dysplasia wikiPageWikiLink Pectus_excavatum.
- Craniofrontonasal_dysplasia wikiPageWikiLink Prenatal_diagnosis.
- Craniofrontonasal_dysplasia wikiPageWikiLink Scoliosis.
- Craniofrontonasal_dysplasia wikiPageWikiLink Sex_linkage.
- Craniofrontonasal_dysplasia wikiPageWikiLink Syndactyly.
- Craniofrontonasal_dysplasia wikiPageWikiLink Ultrasound.
- Craniofrontonasal_dysplasia wikiPageWikiLink Webbed_neck.
- Craniofrontonasal_dysplasia wikiPageWikiLink Wikt:bifid.
- Craniofrontonasal_dysplasia wikiPageWikiLink X-inactivation.
- Craniofrontonasal_dysplasia wikiPageWikiLink File:CFND_CT-scan.jpg.
- Craniofrontonasal_dysplasia wikiPageWikiLink File:CFND_toenail.jpg.
- Craniofrontonasal_dysplasia wikiPageWikiLinkText "Craniofrontonasal dysplasia".
- Craniofrontonasal_dysplasia wikiPageWikiLinkText "craniofrontonasal dysplasia".
- Craniofrontonasal_dysplasia wikiPageUsesTemplate Template:Extracellular_ligand_disorders.
- Craniofrontonasal_dysplasia wikiPageUsesTemplate Template:RareDiseases.
- Craniofrontonasal_dysplasia wikiPageUsesTemplate Template:Reflist.
- Craniofrontonasal_dysplasia wikiPageUsesTemplate Template:X-linked_disorders.
- Craniofrontonasal_dysplasia subject Category:Extracellular_ligand_disorders.
- Craniofrontonasal_dysplasia subject Category:X-linked_dominant_disorders.
- Craniofrontonasal_dysplasia type Disorder.
- Craniofrontonasal_dysplasia comment "Craniofrontonasal dysplasia (craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very rare X-linked malformation syndrome caused by mutations in the ephrin-B1 gene (EFNB1).".
- Craniofrontonasal_dysplasia label "Craniofrontonasal dysplasia".
- Craniofrontonasal_dysplasia sameAs Q5182141.
- Craniofrontonasal_dysplasia sameAs m.025_n0d.
- Craniofrontonasal_dysplasia sameAs Q5182141.
- Craniofrontonasal_dysplasia wasDerivedFrom Craniofrontonasal_dysplasia?oldid=675284917.
- Craniofrontonasal_dysplasia depiction CFND_CT-scan.jpg.
- Craniofrontonasal_dysplasia isPrimaryTopicOf Craniofrontonasal_dysplasia.