About: Jordan's Syndrome

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Jordan's Syndrome (JS) or PPP2R5D-related intellectual disability is a rare autosomal dominant neurodevelopmental disorder caused by de novo mutations in the PPP2R5D gene. It is characterized by hypotonia, intellectual disability, and macrocephaly. Children with JS may also have epilepsy or meet criteria for diagnosis with autism spectrum disorder.

Attributes	Values
rdf:type	Thing Disease disease
rdfs:label	Jordan's Syndrome (en)
rdfs:comment	Jordan's Syndrome (JS) or PPP2R5D-related intellectual disability is a rare autosomal dominant neurodevelopmental disorder caused by de novo mutations in the PPP2R5D gene. It is characterized by hypotonia, intellectual disability, and macrocephaly. Children with JS may also have epilepsy or meet criteria for diagnosis with autism spectrum disorder. (en)
name	Jordan's syndrome (en)
dcterms:subject	Rare genetic syndromes Neurological disorders in children Mental disorders diagnosed in childhood Autosomal dominant disorders
Wikipage page ID	68790236 (xsd:integer)
Wikipage revision ID	1093643224 (xsd:integer)
Link from a Wikipage to another Wikipage	Cancer Epilepsy Mutation Megalencephaly Applied behavior analysis University of California, Davis University of Iowa University of Rochester University of South Alabama Vanderbilt University Dysmorphic feature Induced pluripotent stem cell Rare genetic syndromes Columbia University Cowden syndrome Genetic testing PPP2R5D PI3K/AKT/mTOR pathway Sotos syndrome Magnetic resonance imaging Parkinsonism Pediatrics Point mutation Macrocephaly Autism Autism spectrum disorder Autosomal dominant Neurological disorders in children Drosophila melanogaster 9q34 deletion syndrome Alpaca Alzheimer's disease Parkinson's disease Global developmental delay Speech delay Psychiatry Jan Nolta Hypotonia Mental disorders diagnosed in childhood Autosomal dominant disorders Presses universitaires de Louvain Wendy Chung Whole exome sequencing Physical therapy Speech–language pathology Intellectual disability Occupational medicine Occupational therapy Ophthalmology Seizure Macrocephaly-capillary malformation McArdle Laboratory White matter Neurodevelopmental disorder Neurology PP2A Seattle Children's Hospital Missense Lateral ventricle
sameAs	Jordan's Syndrome Jordan's Syndrome
specialty	Pediatrics Psychiatry Occupational medicine Ophthalmology Neurology
dbp:wikiPageUsesTemplate	dbt:Reflist dbt:Short_description dbt:Infobox_medical_condition
diagnosis	Molecular genetic testing (en)
symptoms	Mild to severe global developmental delay, seizure, macrocephaly, hypotonia, autism, dysmorphic facial features (en)
causes	Heterozygous PPP2R5D mutation (en)
duration	Lifelong (en)
frequency	23 (xsd:integer)
management	Applied behavior analysis Physical therapy Speech–language pathology Occupational therapy
synonyms	PPP2R5D-related intellectual disability, mental retardation, autosomal dominant 35 (en)
has abstract	Jordan's Syndrome (JS) or PPP2R5D-related intellectual disability is a rare autosomal dominant neurodevelopmental disorder caused by de novo mutations in the PPP2R5D gene. It is characterized by hypotonia, intellectual disability, and macrocephaly. Children with JS may also have epilepsy or meet criteria for diagnosis with autism spectrum disorder. (en)
differential	Cowden syndrome, Sotos syndrome, Smith-Kingsmore syndrome, M-CM, MPPH, 9q34 deletion syndrome, 16p11.2 deletion syndrome (en)
prov:wasDerivedFrom	wikipedia-en:Jordan's_Syndrome?oldid=1093643224&ns=0
page length (characters) of wiki page	9506 (xsd:nonNegativeInteger)
alias	(en) PPP2R5D-related intellectual disability, mental retardation, autosomal dominant 35(MRD35) (en)
foaf:isPrimaryTopicOf	wikipedia-en:Jordan's_Syndrome
is Link from a Wikipage to another Wikipage of	PPP2R5D
is foaf:primaryTopic of	wikipedia-en:Jordan's_Syndrome

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