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Article

Development of a phenotype ontology for autism spectrum disorder by natural language processing on electronic health records.

Journal of neurodevelopmental disorders - 23 May 2022

Zhao Mengge, Havrilla James, Peng Jacqueline, Drye Madison, Fecher Maddie, Guthrie Whitney, Tunc Birkan, Schultz Robert, Wang Kai, Zhou Yunyun

Abstract excerpt

BACKGROUND: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by restricted, repetitive behavior, and impaired social communication and interactions. However, significant challenges remain in diagnosing and subtyping ASD due in part to the lack of a validated, standardized vocabulary to characterize clinical phenotypic presentation of ASD. Although the human phenotype ontology...

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PMID: 35606697
DOI: 10.1186/s11689-022-09442-0
PMCID: PMC9128253

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