Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

AUTISM
Synonyms

AUTISM, SUSCEPTIBILITY TO, 1

AUTISM SPECTRUM DISORDER

AUTISTIC DISORDER

AUTS1

ASD
ID

http://purl.bioontology.org/ontology/OMIM/209850
altLabel

AUTISM, SUSCEPTIBILITY TO, 1

AUTISM SPECTRUM DISORDER

AUTISTIC DISORDER

AUTS1

ASD
cui

C1968924

C1510586

C0004352
Gene Locus

7q22
Gene Symbol

AUTS1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU001941

http://purl.bioontology.org/ontology/OMIM/MTHU001935

http://purl.bioontology.org/ontology/OMIM/MTHU001981

http://purl.bioontology.org/ontology/OMIM/MTHU001982

http://purl.bioontology.org/ontology/OMIM/MTHU022121

http://purl.bioontology.org/ontology/OMIM/MTHU001978

http://purl.bioontology.org/ontology/OMIM/MTHU001936

http://purl.bioontology.org/ontology/OMIM/MTHU022120

http://purl.bioontology.org/ontology/OMIM/MTHU001979

http://purl.bioontology.org/ontology/OMIM/MTHU001937

http://purl.bioontology.org/ontology/OMIM/MTHU001980

http://purl.bioontology.org/ontology/OMIM/MTHU001938
MIMTYPEMEANING

Mendelian phenotype or locus, molecular basis unknown.
notation

209850
OMIM Entry Type

5
OMIM MimType Value

perc
prefLabel

AUTISM
Scope Statement

Onset by 3 years of age [MISCELLANEOUS]

Associated with Fragile X syndrome (309550) [MISCELLANEOUS]

Genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496) [MISCELLANEOUS]

Occurs in 2-5 per 10,000 individuals [MISCELLANEOUS]

Associated with untreated phenylketonuria (261600) [MISCELLANEOUS]

Male to female ratio 4:1 [MISCELLANEOUS]

Associated with tuberous sclerosis (191100) [MISCELLANEOUS]
tui

T033

T048
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D000067877 MESH CUI
http://purl.bioontology.org/ontology/ICD10CM/F84.0 ICD10CM CUI
http://purl.bioontology.org/ontology/phenX/120900 PHENX CUI
http://purl.bioontology.org/ontology/MDRGER/10063844 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10063844 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000191889 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10063844 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D000067877 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C1510586 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MDRGER/10023277 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10003805 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/43614003 SCTSPA CUI
http://purl.bioontology.org/ontology/WHOFRE/1405 WHOFRE CUI
http://purl.bioontology.org/ontology/MESH/D001321 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D001321 MSHFRE CUI
http://purl.bioontology.org/ontology/ICPC2P/P99006 ICPC2P CUI
http://purl.bioontology.org/ontology/MEDDRA/10003808 MEDDRA CUI
http://purl.bioontology.org/ontology/CST/SCHIZOPHRENIC%20REACT COSTART CUI
http://purl.bioontology.org/ontology/SNMI/D9-18111 SNMI CUI
http://purl.bioontology.org/ontology/SNMI/F-94180 SNMI CUI
http://purl.bioontology.org/ontology/LNC/LP74518-9 LOINC CUI
http://purl.bioontology.org/ontology/CSP/2483-6241 CRISP CUI
http://purl.bioontology.org/ontology/RCD/XE2v2 RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10003805 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10CM/F84.0 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRGER/10003806 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10008520 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10008520 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10021737 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10003806 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10023277 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD9CM/299.0 ICD9CM CUI
http://purl.bioontology.org/ontology/ICPC2P/P99005 ICPC2P CUI
http://purl.bioontology.org/ontology/MDRFRE/10003805 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10003806 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0004352 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/SNMI/D9-18110 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10023277 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10008520 MDRFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000513 NDFRT CUI
http://purl.bioontology.org/ontology/LNC/LA24638-1 LOINC CUI
http://purl.bioontology.org/ontology/MDRFRE/10021737 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10003808 MDRFRE CUI
http://purl.bioontology.org/ontology/CSP/2484-9506 CRISP CUI
http://purl.bioontology.org/ontology/LNC/MTHU020585 LOINC CUI
http://purl.bioontology.org/ontology/SNOMEDCT/43614003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10014043 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10003808 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/408857007 SCTSPA CUI
http://purl.bioontology.org/ontology/WHO/1405 WHO-ART CUI
http://purl.bioontology.org/ontology/MEDDRA/10014043 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10021737 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10/F84.0 ICD10 CUI
http://purl.bioontology.org/ontology/MDRFRE/10014043 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/408857007 SNOMEDCT CUI
http://purl.obolibrary.org/obo/MONDO_0005260 MONDO LOOM
http://purl.obolibrary.org/obo/GSSO_003111 GSSO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10003805 MEDDRA LOOM
http://www.ebi.ac.uk/efo/EFO_0003758 CCONT LOOM
http://www.ebi.ac.uk/efo/EFO_0003758 EFO LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Autism APAEDUCLUSTER LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Autism APADISORDERS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Autism APAONTO LOOM
http://purl.obolibrary.org/obo/MONDO_0005260 DOVES LOOM
http://purl.org/autism-ontology/1.0/autism-rules.owl#Autism ADAR LOOM
http://localhost/plosthes.2017-1#2310 PLOSTHES LOOM
http://maven.renci.org/NeuroBridge/neurobridge#AutisticDisorder NEUROBRG LOOM
http://purl.bioontology.org/ontology/LNC/LP74518-9 LOINC LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12849 NATPRO LOOM
http://purl.bioontology.org/ontology/CSP/2483-6241 CRISP LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Autism PEDTERM LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:2045 IFAR LOOM
http://purl.obolibrary.org/obo/NCIT_C97161 BERO LOOM
http://purl.bioontology.org/ontology/ICPC2P/P99005 ICPC2P LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Autism CSEO LOOM
http://ontriscal#Autism ONTRISCAL LOOM
rgo:27506 GAMUTS LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0004352 MEDLINEPLUS LOOM
http://purl.jp/bio/4/id/200906044868102156 IOBC LOOM
http://www.phoc.org.cn/pmo/class/PMO_00011091 PMAPP-PMO LOOM
http://www.semanticweb.org/cjf/ontologies/2022/8/NeuralReprogrammingOntology(NRO)#autism NRO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97161 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97161 suicideo LOOM
http://purl.bioontology.org/ontology/LNC/LA24638-1 LOINC LOOM
http://www.limics.org/hrdo/rdfns#pat_id_312 HRDO LOOM
http://purl.obolibrary.org/obo/HP_0000717 CCONT LOOM
http://purl.obolibrary.org/obo/HP_0000717 EFO LOOM
http://purl.obolibrary.org/obo/HP_0000717 HP LOOM
http://purl.obolibrary.org/obo/HP_0000717 HHEAR LOOM
http://purl.obolibrary.org/obo/HP_0000717 UPHENO LOOM
http://purl.bioontology.org/ontology/LNC/MTHU020585 LOINC LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0004352 OCHV LOOM