| http://dbpedia.org/ontology/abstract
|
Snijders Blok-Campeau syndrome is a geneti … Snijders Blok-Campeau syndrome is a genetic disorder caused by mutations in the CHD3 gene. It is characterized by impaired intellectual development, macrocephaly, dysarthria and apraxia of speech, and certain distinctive facial features. Snijders Blok-Campeau syndrome is typically a de novo mutation which generally occurs during the early embryonic stages of development or during the formation of the parent's reproductive cells. This allows for prenatal diagnosis.cells. This allows for prenatal diagnosis.
|
| http://dbpedia.org/ontology/omim
|
618205
|
| http://dbpedia.org/ontology/orpha
|
ORPHA599082
|
| http://dbpedia.org/ontology/thumbnail
|
http://commons.wikimedia.org/wiki/Special:FilePath/Individuals_who_have_Snijders_Blok-Campeau_syndrome.jpg?width=300 +
|
| http://dbpedia.org/ontology/wikiPageID
|
71345322
|
| http://dbpedia.org/ontology/wikiPageLength
|
8091
|
| http://dbpedia.org/ontology/wikiPageRevisionID
|
1110908061
|
| http://dbpedia.org/ontology/wikiPageWikiLink
|
http://dbpedia.org/resource/CHD3 +
, http://dbpedia.org/resource/Genetic_disorder +
, http://dbpedia.org/resource/Developmental_disorder +
, http://dbpedia.org/resource/Reproductive_cells +
, http://dbpedia.org/resource/Category:Rare_diseases +
, http://dbpedia.org/resource/Clinical_geneticist +
, http://dbpedia.org/resource/Category:Genetic_diseases_and_disorders +
, http://dbpedia.org/resource/Chromosome +
, http://dbpedia.org/resource/Facies_%28medical%29 +
, http://dbpedia.org/resource/Philippe_M_Campeau +
, http://dbpedia.org/resource/Lot_Snijders_Blok +
, http://dbpedia.org/resource/Autism_spectrum +
, http://dbpedia.org/resource/Speech_disorder +
, http://dbpedia.org/resource/DNA +
, http://dbpedia.org/resource/Apraxia_of_speech +
, http://dbpedia.org/resource/Hypertelorism +
, http://dbpedia.org/resource/Central_nervous_system_disease +
, http://dbpedia.org/resource/Early_embryonic_development +
, http://dbpedia.org/resource/Microcephaly +
, http://dbpedia.org/resource/Category:Intellectual_disability +
, http://dbpedia.org/resource/Category:Syndromes_affecting_head_size +
, http://dbpedia.org/resource/Category:Disorders_causing_seizures +
, http://dbpedia.org/resource/Category:Disorders_of_synthesis_of_DNA%2C_RNA%2C_and_proteins +
, http://dbpedia.org/resource/Skull_bossing +
, http://dbpedia.org/resource/Category:Genetics +
, http://dbpedia.org/resource/Chromatin_remodeling +
, http://dbpedia.org/resource/Nasal_bridge +
, http://dbpedia.org/resource/Category:Rare_syndromes +
, http://dbpedia.org/resource/Hearing_loss +
, http://dbpedia.org/resource/Visual_impairment +
, http://dbpedia.org/resource/Macrocephaly +
, http://dbpedia.org/resource/Ligamentous_laxity +
, http://dbpedia.org/resource/Category:Speech_disorders +
, http://dbpedia.org/resource/Chromatin +
, http://dbpedia.org/resource/Category:Developmental_disabilities +
, http://dbpedia.org/resource/Intellectual_disability +
, http://dbpedia.org/resource/Category:Disorders_of_fascia +
, http://dbpedia.org/resource/Clinician-scientist +
, http://dbpedia.org/resource/Category:Syndromes +
, http://dbpedia.org/resource/Prenatal_testing +
, http://dbpedia.org/resource/Category:Diseases_and_disorders +
, http://dbpedia.org/resource/Strabismus +
, http://dbpedia.org/resource/De_novo_mutation +
, http://dbpedia.org/resource/Dysarthria +
, http://dbpedia.org/resource/Hypotonia +
|
| http://dbpedia.org/property/alt
|
An image displaying 18 individuals who have Snijders Blok-Campeau syndrome
|
| http://dbpedia.org/property/caption
|
An image displaying 18 individuals who have Snijders Blok-Campeau syndrome
|
| http://dbpedia.org/property/causes
|
Mutations in the CHD3 gene
|
| http://dbpedia.org/property/duration
|
Life long
|
| http://dbpedia.org/property/frequency
|
Approximately 60 cases described in scientific literature, with an estimated 150 diagnosed worldwide
|
| http://dbpedia.org/property/name
|
Snijders Blok-Campeau syndrome
|
| http://dbpedia.org/property/omim
|
618205
|
| http://dbpedia.org/property/onset
|
Before birth
|
| http://dbpedia.org/property/orphanet
|
ORPHA599082
|
| http://dbpedia.org/property/symptoms
|
Intellectual disability, Macrocephaly, distinctive facial features
|
| http://dbpedia.org/property/synonym
|
SNIBCPS, IDDMSF
|
| http://dbpedia.org/property/wikiPageUsesTemplate
|
http://dbpedia.org/resource/Template:Infobox_medical_condition +
, http://dbpedia.org/resource/Template:Medical_condition_classification_and_resources +
, http://dbpedia.org/resource/Template:Genetic-disorder-stub +
, http://dbpedia.org/resource/Template:Reflist +
|
| http://purl.org/dc/terms/subject
|
http://dbpedia.org/resource/Category:Rare_syndromes +
, http://dbpedia.org/resource/Category:Developmental_disabilities +
, http://dbpedia.org/resource/Category:Syndromes +
, http://dbpedia.org/resource/Category:Genetics +
, http://dbpedia.org/resource/Category:Disorders_of_synthesis_of_DNA%2C_RNA%2C_and_proteins +
, http://dbpedia.org/resource/Category:Speech_disorders +
, http://dbpedia.org/resource/Category:Disorders_causing_seizures +
, http://dbpedia.org/resource/Category:Diseases_and_disorders +
, http://dbpedia.org/resource/Category:Intellectual_disability +
, http://dbpedia.org/resource/Category:Rare_diseases +
, http://dbpedia.org/resource/Category:Genetic_diseases_and_disorders +
, http://dbpedia.org/resource/Category:Syndromes_affecting_head_size +
, http://dbpedia.org/resource/Category:Disorders_of_fascia +
|
| http://www.w3.org/ns/prov#wasDerivedFrom
|
http://en.wikipedia.org/wiki/Snijders_Blok-Campeau_syndrome?oldid=1110908061&ns=0 +
|
| http://xmlns.com/foaf/0.1/depiction
|
http://commons.wikimedia.org/wiki/Special:FilePath/Individuals_who_have_Snijders_Blok-Campeau_syndrome.jpg +
|
| http://xmlns.com/foaf/0.1/isPrimaryTopicOf
|
http://en.wikipedia.org/wiki/Snijders_Blok-Campeau_syndrome +
|
| owl:sameAs |
https://global.dbpedia.org/id/GWtpF +
, http://www.wikidata.org/entity/Q113162104 +
, http://dbpedia.org/resource/Snijders_Blok-Campeau_syndrome +
, http://fa.dbpedia.org/resource/%D8%B3%D9%86%D8%AF%D8%B1%D9%85_%D8%A7%D8%B3%D9%86%D8%A7%DB%8C%D8%AF%D8%B1_%D8%A8%D9%84%D9%88%DA%A9-%DA%A9%D8%A7%D9%85%D9%BE%D8%A6%D9%88 +
|
| rdf:type |
http://www.wikidata.org/entity/Q12136 +
, http://dbpedia.org/ontology/Disease +
|
| rdfs:comment |
Snijders Blok-Campeau syndrome is a geneti … Snijders Blok-Campeau syndrome is a genetic disorder caused by mutations in the CHD3 gene. It is characterized by impaired intellectual development, macrocephaly, dysarthria and apraxia of speech, and certain distinctive facial features. Snijders Blok-Campeau syndrome is typically a de novo mutation which generally occurs during the early embryonic stages of development or during the formation of the parent's reproductive cells. This allows for prenatal diagnosis.cells. This allows for prenatal diagnosis.
|
| rdfs:label |
Snijders Blok-Campeau syndrome
|
