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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Autism
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Accession:HP:0000717 term browser browse the term
Definition:Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
Comment:The term refers to the diagnosis of autism and is left for convenience. However, it is preferable to annotate the exact phenotypic abnormalities rather than merely the diagnostic category autism.
Synonyms:xref: EFO:0003758;   MESH:D001321;   SNOMEDCT_US:408856003;   SNOMEDCT_US:408857007;   SNOMEDCT_US:43614003;   UMLS:C0004352


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      Human phenotype 21570
        Phenotypic abnormality 21560
          Abnormality of the nervous system 15611
            Abnormal nervous system physiology 14502
              Abnormality of mental function 13133
                Atypical behavior 7667
                  Autistic behavior 6503
                    Autism 5902
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