About: Ring chromosome 14 syndrome

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Ring chromosome 14 syndrome is a very rare human chromosome abnormality. It occurs when one or both of the telomeres that mark the ends of chromosome 14 are lost allowing the now uncapped ends to fuse together forming a ring chromosome. It causes a number of serious health issues.

Attributes	Values
rdf:type	Thing Disease yago:WikicatCongenitalDisorders yago:Abnormality114501726 yago:Abstraction100002137 yago:Anomaly114505821 yago:Attribute100024264 yago:BirthDefect114465048 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Defect114464005 yago:Disease114070360 yago:GeneticDisease114151139 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:Imperfection114462666 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatGeneticDisordersWithNoOMIM disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes
rdfs:label	Chromosome 14 en anneau (fr) Ring chromosome 14 syndrome (en)
rdfs:comment	Ring chromosome 14 syndrome is a very rare human chromosome abnormality. It occurs when one or both of the telomeres that mark the ends of chromosome 14 are lost allowing the now uncapped ends to fuse together forming a ring chromosome. It causes a number of serious health issues. (en) Le chromosome 14 en anneau est une aberration chromosomique extrêmement rare (moins de vingt cas publiés), notée r(14). Les manifestations en sont : * microcéphalie avec retard mental ; * hypotonie musculaire ; * dysmorphie cranio-faciale (dolichocéphalie, épicanthus, hypertélorisme, etc.) ; * vitiligo ou taches café au lait. * Portail de la médecine (fr)
foaf:name	Ring chromosome 14 syndrome (en)
name	Ring chromosome 14 syndrome (en)
foaf:depiction
dcterms:subject	Genetic disorders with no OMIM Ring chromosomes Congenital disorders Rare diseases Syndromes
Wikipage page ID	35643064 (xsd:integer)
Wikipage revision ID	1069075575 (xsd:integer)
Link from a Wikipage to another Wikipage	Retina Epilepsy MRI Deletion (genetics) Genetic disorders with no OMIM Chromosome 14 Ring chromosomes Congenital disorders Rare diseases Telomere EEG Syndromes Karyotyping Microcephaly Chromosome 14 (human) Chromosome abnormalities Immune Lymphedema Ring chromosome Ring chromosome 20 syndrome Ring chromosome 18 syndrome Respiratory infections Anti-epileptic Anticonvulsive
Link from a Wikipage to an external page	http://www.ring14.org/upload/1282121818-1.pdf https://books.google.com/books%3Fid=99YPDvFWBB0C&q=Ring+chromosome+14+syndrome&pg=PA64%7Ctitle=NORD
sameAs	Ring chromosome 14 syndrome Ring chromosome 14 syndrome Ring chromosome 14 syndrome Ring chromosome 14 syndrome Ring chromosome 14 syndrome
dbp:wikiPageUsesTemplate	dbt:Cite_book dbt:Cite_journal dbt:Infobox_medical_condition_(new) dbt:Medical_citation_needed dbt:Medical_resources dbt:Reflist dbt:Chromosomal_abnormalities dbt:Scholia
thumbnail	wiki-commons:Special:FilePath/NLM_ring_chromosome.jpg?width=300
diagnosis	MRI, EEG (en)
DiseasesDB	34753 (xsd:integer)
ICD	Q93.2 (en)
OMIM	616606 (xsd:integer)
Orphanet	1440 (xsd:integer)
symptoms	Seizures, intellectual disability (en)
treatment	Anticonvulsive medication (en)
caption	Formation of a ring chromosome. (en)
causes	Caused by a chromosomal abnormality (en)
synonyms	Ring 14, Ring chromosome 14 (en)
has abstract	Ring chromosome 14 syndrome is a very rare human chromosome abnormality. It occurs when one or both of the telomeres that mark the ends of chromosome 14 are lost allowing the now uncapped ends to fuse together forming a ring chromosome. It causes a number of serious health issues. (en)

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