About: SYNGAP1-related intellectual disability

Property	Value
dbo:description	Medical condition (en)
dbo:diseasesDB	36516
dbo:geneReviewsId	NBK8831
dbo:geneReviewsName	SYNGAP1 (en)
dbo:icd10	F78.A1
dbo:omim	612621 (xsd:integer)
dbo:orpha	544254
dbo:wikiPageExternalLink	https://hosting.med.upenn.edu/prosserlab/ https://leonandfriends.org/en/english/ https://www.ciitizen.com/SYNGAP1 https://www.qstatebio.com/ https://www.sfari.org/funded-project/development-of-antisense-oligonucleotides-for-syngap1-haploinsufficiency-associated-with-autism-spectrum-disorder-and-intellectual-disability/ https://www.simonssearchlight.org/research/what-we-study/syngap1/ https://www.stoketherapeutics.com/ https://www.syngapresearchfund.org/post/syngapcensus-1q21-57-new-patients https://patents.google.com/patent/WO2017106377A1/en https://medium.com/@syngapfund/we-know-of-at-least-364-syngap-patients-heres-where-they-are-d9f513d28ebd https://health.ucdavis.edu/health-news/newsroom/local-foundation-awards-125-million-to-mind-institute-to-study-rare-genetic-condition/2021/06 https://uspto.report/patent/app/20210180062 https://www.qstatebio.com/pipelines https://www.syngapresearchfund.org/grants-coll/19-3-dr-huganir-at-hopkins https://www.syngapresearchfund.org/post/why-are-we-so-sure-that-syngap1-related-intellectual-disability-is-under-diagnosed http://www.bridgesyngap.org http://www.syngapresearchfund.org https://syngap1registry.iamrare.org https://www.SyngapResearchFund.org https://www.overcomesyngap1.org https://www.syngap.de https://www.syngap1.es https://www.syngapglobal.net https://www.med.upenn.edu/hellerlab/
dbo:wikiPageWikiLink	dbr:MIND_Institute dbr:Hypotonia dbr:Chromosome_6 dbr:Central_nervous_system dbr:Hippocampus dbr:Atonic_seizure dbr:Reflex_seizure dbc:Learning_disabilities dbr:Penetrance dbr:Tuberous_sclerosis dbr:Gait dbr:Point_mutation dbc:Disorders_causing_seizures dbr:Infant dbr:Physical_therapy dbr:Wheelchair dbr:Cerebral_palsy dbr:Generalized_tonic–clonic_seizure dbr:Applied_behavior_analysis dbr:Absence_seizure dbr:Cortex_(anatomy) dbr:Cognitive_development dbr:Genetic_disorder dbr:Protein dbc:Rare_syndromes dbc:Syndromes_affecting_the_nervous_system dbr:Sensory_processing_disorder dbr:Electroencephalography dbr:Photosensitivity_in_humans dbr:Pervasive_developmental_disorder dbc:Neurological_disorders dbr:Epilepsy dbr:Encephalopathy dbr:University_of_California,_Davis dbr:Nonverbal_communication dbr:Antisense_therapy dbr:Autism-spectrum_disorder dbr:Angelman_syndrome dbr:Autism dbr:Ketogenic_diet dbr:Mutation dbr:Magnetic_resonance_imaging dbr:Jeavons_syndrome dbr:Genetic_testing dbr:Intellectual_disability dbr:Rett_syndrome dbr:Microdeletion_syndrome dbr:MAPK/ERK_pathway dbr:Occupational_therapy dbr:Haploinsufficiency dbr:Johns_Hopkins_School_of_Medicine dbr:Autosomal_dominant dbr:Gene_expression dbr:Lennox–Gastaut_syndrome dbr:Gross_motor_skill dbr:Richard_L._Huganir dbr:Missense_mutation dbr:Global_developmental_delay dbr:Generalized_epilepsy dbr:AAC_device dbr:Protein-truncating_variants dbr:SYNGAP1 dbr:Speech_and_Language_Therapy dbr:Whole_exome_sequencing dbr:Simons_Foundation_Autism_Research_Initiative dbr:Simons_Foundation dbr:Myoclonic_jerks dbr:Mosaicism dbr:Strollers dbr:Epileptic_seizure dbr:Heterozygous dbr:Ankle-foot_orthoses dbr:Balanced_translocation dbr:Behavioural_problems dbr:West_Syndrome dbr:Chromosomal_microarray_analysis dbr:Gastrostomy_tube dbr:Doose_syndrome dbr:Anti-epileptic_drugs dbr:Antisense_oligonucleotide_therapy dbr:Loss_of_function dbr:Infantile_spasms dbr:Occipital_region dbr:Single-gene_disorder dbr:Sleep_problems
dbp:diseasesdb	36516 (xsd:integer)
dbp:genereviewsname	SYNGAP1 (en)
dbp:genereviewsnbk	NBK8831 (en)
dbp:icd	F78.A1 (en)
dbp:omim	612621 (xsd:integer)
dbp:orphanet	544254 (xsd:integer)
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dct:subject	dbc:Autosomal_dominant_disorders dbc:Syndromic_autism dbc:Genetic_diseases_and_disorders dbc:Learning_disabilities dbc:Pervasive_developmental_disorders dbc:Intellectual_disability dbc:Disorders_causing_seizures dbc:Rare_syndromes dbc:Syndromes_affecting_the_nervous_system dbc:Neurological_disorders dbc:Neurogenetic_disorders dbc:Genetics_of_autism
rdf:type	owl:Thing wikidata:Q12136 dbo:Disease dbo:Disease
rdfs:label	SYNGAP1-related intellectual disability (en)
owl:sameAs	wikidata:SYNGAP1-related intellectual disability dbpedia-global:SYNGAP1-related intellectual disability dbr:SYNGAP1-related intellectual disability
prov:wasDerivedFrom	wikipedia-en:SYNGAP1-related_intellectual_disability?oldid=1266982145&ns=0
foaf:isPrimaryTopicOf	wikipedia-en:SYNGAP1-related_intellectual_disability
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