About: Snijders Blok-Campeau syndrome

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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.

Attributes	Values
rdf:type	Thing Disease disease
rdfs:label	Snijders Blok-Campeau syndrome (en)
rdfs:comment	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. (en)
name	Snijders Blok-Campeau syndrome (en)
foaf:depiction
dct:subject	Speech disorders Diseases and disorders Developmental disabilities Disorders of synthesis of DNA, RNA, and proteins Genetic diseases and disorders Syndromes affecting head size Rare diseases Rare syndromes Genetics Intellectual disability Syndromes Disorders of fascia Disorders causing seizures
Wikipage page ID	71345322 (xsd:integer)
Wikipage revision ID	1110908061 (xsd:integer)
Link from a Wikipage to another Wikipage	Speech disorders Prenatal testing Apraxia of speech DNA Visual impairment De novo mutation Developmental disorder Dysarthria Ligamentous laxity Genetic disorder Strabismus Macrocephaly Autism spectrum Diseases and disorders Hearing loss Developmental disabilities Disorders of synthesis of DNA, RNA, and proteins Genetic diseases and disorders Syndromes affecting head size Central nervous system disease Chromatin Chromatin remodeling Chromosome Rare diseases Rare syndromes Hypertelorism Hypotonia Skull bossing Genetics Intellectual disability Syndromes Disorders of fascia Disorders causing seizures Speech disorder Intellectual disability Microcephaly CHD3 Facies (medical) Nasal bridge Reproductive cells Early embryonic development Clinical geneticist Clinician-scientist dbr:Lot_Snijders_Blok dbr:Philippe_M_Campeau
sameAs	Snijders Blok-Campeau syndrome Snijders Blok-Campeau syndrome Snijders Blok-Campeau syndrome
dbp:wikiPageUsesTemplate	dbt:Genetic-disorder-stub dbt:Reflist dbt:Infobox_medical_condition dbt:Medical_condition_classification_and_resources
thumbnail	wiki-commons:Special:FilePath/Individuals_who_have_Snijders_Blok-Campeau_syndrome.jpg?width=300
OMIM	618205 (xsd:integer)
onset	Before birth (en)
Orphanet	ORPHA599082 (en)
symptoms	Intellectual disability, Macrocephaly, distinctive facial features (en)
synonym	SNIBCPS, IDDMSF (en)
alt	An image displaying 18 individuals who have Snijders Blok-Campeau syndrome (en)
caption	An image displaying 18 individuals who have Snijders Blok-Campeau syndrome (en)
causes	Mutations in the CHD3 gene (en)
duration	Life long (en)
frequency	Approximately 60 cases described in scientific literature, with an estimated 150 diagnosed worldwide (en)
has abstract	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. (en)
prov:wasDerivedFrom	wikipedia-en:Snijders_Blok-Campeau_syndrome?oldid=1110908061&ns=0
page length (characters) of wiki page	8091 (xsd:nonNegativeInteger)
OMIM id	618205 (xsd:integer)
ORPHA	ORPHA599082
foaf:isPrimaryTopicOf	wikipedia-en:Snijders_Blok-Campeau_syndrome
is Link from a Wikipage to another Wikipage of	Bifid nose CHD3 Facies (medical)
is foaf:primaryTopic of	wikipedia-en:Snijders_Blok-Campeau_syndrome

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