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Statements

Subject Item
dbr:Langer–Giedion_syndrome
rdf:type
dbo:Disease yago:PathologicalState114051917 owl:Thing yago:Syndrome105870790 yago:Disease114070360 yago:Cognition100023271 yago:IllHealth114052046 yago:Attribute100024264 yago:Condition113920835 wikidata:Q12136 yago:Illness114061805 yago:Complex105870365 yago:Whole105869584 yago:GeneticDisease114151139 yago:WikicatGeneticDisorders yago:Concept105835747 yago:Idea105833840 yago:PsychologicalFeature100023100 yago:Abstraction100002137 yago:WikicatSyndromes yago:WikicatAutosomalDominantDisorders yago:AutosomalDominantDisease114162025 yago:State100024720 yago:Content105809192 yago:PhysicalCondition114034177
rdfs:label
Langer–Giedion syndrome Syndrome tricho-rhino-phalangien type 2 Sindrome di Langer-Giedon متلازمة لانجر-جيديون
rdfs:comment
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. 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.
foaf:name
Langer–Giedion syndrome
dbp:name
Langer–Giedion syndrome
foaf:depiction
n15:Langer-Giedion_syndrome.jpg n15:Langer-Giedion_syndromeFeet.jpg n15:Langer-Giedion_syndromeHands.jpg
dcterms:subject
dbc:Autosomal_dominant_disorders dbc:Syndromes_affecting_head_size dbc:Rare_syndromes dbc:Syndromes_affecting_teeth dbc:Syndromes_affecting_stature
dbo:wikiPageID
195631
dbo:wikiPageRevisionID
1100649791
dbo:wikiPageWikiLink
dbr:Micrognathia dbr:Retrognathia dbr:Thigh_bone dbr:Dominance_(genetics) dbc:Syndromes_affecting_head_size dbc:Autosomal_dominant_disorders dbc:Rare_syndromes dbr:Chromosome_8 dbr:Legg–Calvé–Perthes_disease dbr:Genetic_disorder dbr:Philtrum dbr:TRPS1 dbr:Genetic_deletion dbr:Autosome dbr:Clinodactyly dbr:Hypertelorism dbr:Microcephaly dbr:Human_skull dbc:Syndromes_affecting_teeth dbr:Human_skeleton dbr:Scoliosis dbr:Supernumerary_central_incisors dbr:External_fixation dbr:Winged_scapula dbr:Joint_hypermobility dbr:Gene dbc:Syndromes_affecting_stature dbr:Fibrodysplasia_Ossificans_Progressiva dbr:EXT1 dbr:Cytogenetics dbr:Ectodermal_dysplasia dbr:Tricho-rhino-phalangeal_syndrome_Type_1 dbr:Brachydactyly dbr:Hip_dysplasia
owl:sameAs
dbpedia-fr:Syndrome_tricho-rhino-phalangien_type_2 dbpedia-it:Sindrome_di_Langer-Giedon dbpedia-ar:متلازمة_لانجر-جيديون freebase:m.01bsry n21:Langer-Giedionov_sindrom n23:3EW4g wikidata:Q3508795
dbp:wikiPageUsesTemplate
dbt:Medical_resources n6:coregulator_deficiencies dbt:RareDiseases dbt:Infobox_medical_condition_(new) dbt:Reflist dbt:Citation_needed
dbo:thumbnail
n15:Langer-Giedion_syndrome.jpg?width=300
dbp:diseasesdb
31949
dbp:icd
ICD-10: Q87.8
dbp:meshid
D015826
dbp:omim
150230
dbp:orphanet
502
dbp:caption
A person showing the typical features of Langer–Giedion syndrome
dbp:synonyms
Deletion 8q24.1, monosomy 8q24.1, trichorhinophalangeal syndrome type II , Langer–Giedion chromosome region
dbo: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. 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. 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.
dbp:differential
Tricho-rhino-phalangeal syndrome Type 1, Fibrodysplasia Ossificans Progressiva, Trichorhinophalangeal syndrome type 3, multiple exostoses, Legg–Calvé–Perthes disease
dbp:wordnet_type
n16:synset-disease-noun-1
dbo:meshId
D015826
prov:wasDerivedFrom
wikipedia-en:Langer–Giedion_syndrome?oldid=1100649791&ns=0
dbo:wikiPageLength
8227
dbo:differentialDiagnosis
dbr:Legg–Calvé–Perthes_disease dbr:Fibrodysplasia_Ossificans_Progressiva dbr:Tricho-rhino-phalangeal_syndrome_Type_1
dbo:diseasesDB
31949
dbo:icd10
ICD-10: Q87.8
dbo:omim
150230
dbo:orpha
502
foaf:isPrimaryTopicOf
wikipedia-en:Langer–Giedion_syndrome