About: Langer?Giedion syndrome

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Langer–Giedion syndrome (LGS) is a very uncommon autosomal dominant genetic disorder caused by a deletion of a small section of material on chromosome 8. It is named after the two doctors who undertook the main research into the condition in the 1960s. Diagnosis is usually made at birth or in early childhood.

Attributes	Values
rdf:type	Thing yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatAutosomalDominantDisorders yago:WikicatSyndromes Disease yago:WikicatGeneticDisorders disease yago:Abstraction100002137 yago:Attribute100024264 yago:AutosomalDominantDisease114162025 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:GeneticDisease114151139 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805
rdfs:label	متلازمة لانجر-جيديون Langer–Giedion syndrome Syndrome tricho-rhino-phalangien type 2 Sindrome di Langer-Giedon
rdfs:comment	متلازمة لانجر-جيديون هو اضطراب وراثي جسمي غير شائع ناتج عن حذف مادة كروموسومية. يدعى اثنين من الأطباء الذين اضطلعوا بالبحوث الرئيسية في حالة في الستينيات. وعادة ما يتم التشخيص عند الولادة أو في مرحلة الطفولة المبكرة. Langer–Giedion syndrome (LGS) is a very uncommon autosomal dominant genetic disorder caused by a deletion of a small section of material on chromosome 8. It is named after the two doctors who undertook the main research into the condition in the 1960s. Diagnosis is usually made at birth or in early childhood. Le syndrome de Langer-Giedion, ou syndrome tricho-rhino-phalangien de type 2, est caractérisé par l'association d'un déficit intellectuel et de nombreuses anomalies incluant : * nez bulbeux, * oreilles décollées, * cheveux clairsemés, * épiphyses des phalanges en cône, * exostoses cartilagineuses multiples. Ce syndrome est dû à une microdélétion chromosomique de la région 8q23.3-q24.13 entraînant la perte d'au moins deux gènes : TRPS1 et EXT1. La sindrome di Langer-Giedon è una malattia genetica a trasmissione autosomica dominante causata da una delezione genica a livello del cromosoma 8.
foaf:name	Langer–Giedion syndrome
name	Langer–Giedion syndrome
foaf:depiction
foaf:isPrimaryTopicOf	wikipedia-en:Langer–Giedion_syndrome
thumbnail	wiki-commons:Special:FilePath/Langer-Giedion_syndrome.JPG?width=300
dct:subject	Syndromes affecting teeth Rare syndromes Autosomal dominant disorders Syndromes affecting stature Syndromes affecting head size
Wikipage page ID	195631(xsd:integer)
Wikipage revision ID	923894852(xsd:integer)
sameAs	Langer–Giedion syndrome Langer–Giedion syndrome Langer–Giedion syndrome Langer–Giedion syndrome Langer–Giedion syndrome Langer–Giedion syndrome
dbp:wikiPageUsesTemplate	dbt:Cn dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Transcription_factor/coregulator_deficiencies dbt:RareDiseases
caption	A person showing the typical features of Langer-Giedion syndrome
synonyms	Deletion 8q24.1, monosomy 8q24.1, trichorhinophalangeal syndrome type II , Langer-Giedion chromosome region
has abstract	متلازمة لانجر-جيديون هو اضطراب وراثي جسمي غير شائع ناتج عن حذف مادة كروموسومية. يدعى اثنين من الأطباء الذين اضطلعوا بالبحوث الرئيسية في حالة في الستينيات. وعادة ما يتم التشخيص عند الولادة أو في مرحلة الطفولة المبكرة. Langer–Giedion syndrome (LGS) is a very uncommon autosomal dominant genetic disorder caused by a deletion of a small section of material on chromosome 8. It is named after the two doctors who undertook the main research into the condition in the 1960s. Diagnosis is usually made at birth or in early childhood. Le syndrome de Langer-Giedion, ou syndrome tricho-rhino-phalangien de type 2, est caractérisé par l'association d'un déficit intellectuel et de nombreuses anomalies incluant : * nez bulbeux, * oreilles décollées, * cheveux clairsemés, * épiphyses des phalanges en cône, * exostoses cartilagineuses multiples. Ce syndrome est dû à une microdélétion chromosomique de la région 8q23.3-q24.13 entraînant la perte d'au moins deux gènes : TRPS1 et EXT1. La sindrome di Langer-Giedon è una malattia genetica a trasmissione autosomica dominante causata da una delezione genica a livello del cromosoma 8.
MeSH ID	D015826
DiseasesDB	31949(xsd:integer)
ICD	ICD-10: Q87.8
MeshID	D015826
OMIM	150230(xsd:integer)
Orphanet	502(xsd:integer)
DiseasesDB	31949
ICD10	ICD-10: Q87.8
OMIM id	150230(xsd:integer)
ORPHA	502
dbp:wordnet_type	http://www.w3.org/2006/03/wn/wn20/instances/synset-disease-noun-1
prov:wasDerivedFrom	wikipedia-en:Langer–Giedion_syndrome?oldid=923894852&ns=0
page length (characters) of wiki page	4365(xsd:integer)
is foaf:primaryTopic of	wikipedia-en:Langer–Giedion_syndrome
is Wikipage redirect of	Langer-Giedion chromosome region Langer-Giedion syndrome Langer-giedion syndrome LGCR

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