Human Phenotype Ontology / 人类表型本体

Last uploaded: September 7, 2023
Preferred Name

Autism

Synonyms

Autism

Definitions

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). 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.

ID

http://purl.obolibrary.org/obo/HP_0000717

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.

database_cross_reference

SNOMEDCT_US:408857007

SNOMEDCT_US:43614003

UMLS:C0004352

SNOMEDCT_US:408856003

MSH:D001321

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).

has_exact_synonym

Autism

has_obo_namespace

human_phenotype

id

HP:0000717

label

Autism

notation

HP:0000717

prefLabel

Autism

treeView

http://purl.obolibrary.org/obo/HP_0000729

subClassOf

http://purl.obolibrary.org/obo/HP_0000729

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http://purl.obolibrary.org/obo/MONDO_0005260 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/209850 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU004240 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/LNC/MTHU020585 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/LNC/LP74518-9 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://www.ebi.ac.uk/efo/EFO_0003758 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/LNC/LA24638-1 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0004352 MedlinePlus Health Topics / MedlinePlus网站健康主题 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97161 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM