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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:autistic disorder
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Accession:DOID:12849 term browser browse the term
Definition:An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years. (DO)
Synonyms:exact_synonym: AUTISM WITH OR WITHOUT SEIZURES;   AUTISTIC DISORDER OF CHILDHOOD ONSET;   CHROMOSOME 15q11-q13 DUPLICATION SYNDROME;   CHROMOSOME Xp22 DELETION SYNDROME;   Kanner syndrome;   Kanner's syndrome;   Kanners syndrome;   NLGN1-RELATED CONDITION;   PTCHD1-RELATED CONDITION;   TMLHED;   autism;   autistic behavior;   autistic disorders;   childhood autism;   early infantile autism;   epsilon-trimethyllysine hydroxylase deficiency;   infantile autism
 narrow_synonym: CHD8-RELATED DISORDER;   CHD8-RELATED DISORDERS;   CHROMOSOME 15q11.2 DUPLICATION SYNDROME;   SLC9A9-RELATED CONDITION;   X-linked mental retardation;   autism 1;   severe autism
 broad_synonym: AUTS2-RELATED CONDITION
 related_synonym: AUTISTIC DISORDER AUTISM, SUSCEPTIBILITY TO, 1;   AUTS1;   AUTS10;   AUTS11;   AUTS12;   AUTS13;   AUTS15;   AUTS16;   AUTS17;   AUTS19;   AUTS2;   AUTS20;   AUTS3;   AUTS4;   AUTS7;   AUTS8;   AUTS9;   AUTSX1;   AUTSX2;   AUTSX3;   AUTSX4;   AUTSX5;   AUTSX6;   Autism, Susceptibility to, X-Linked 1;   Autism, Susceptibility to, X-Linked 2;   Autism, Susceptibility to, X-Linked 3;   Autism, Susceptibility to, X-Linked 4;   Autism, Susceptibility to, X-Linked 5;   Autism, Susceptibility to, X-Linked 6;   Autism-Speech Delay;   DUPLICATION 15q11-q13 SYNDROME AUTISM, SUSCEPTIBILITY TO, 4;   autism, susceptibility to, 10;   autism, susceptibility to, 11;   autism, susceptibility to, 12;   autism, susceptibility to, 13;   autism, susceptibility to, 15;   autism, susceptibility to, 16;   autism, susceptibility to, 17;   autism, susceptibility to, 20;   autism, susceptibility to, 3;   autism, susceptibility to, 7;   autism, susceptibility to, 8;   autism, susceptibility to, 9;   autism, susceptibility to,19
 primary_id: MESH:D001321
 alt_id: OMIM:209850;   OMIM:300425;   OMIM:300495;   OMIM:300496;   OMIM:300830;   OMIM:300847;   OMIM:300872;   OMIM:607373;   OMIM:608049;   OMIM:608636;   OMIM:609378;   OMIM:610676;   OMIM:610836;   OMIM:610838;   OMIM:610908;   OMIM:611015;   OMIM:611016;   OMIM:612100;   OMIM:613410;   OMIM:613436;   OMIM:615091;   OMIM:618830
 xref: EFO:0003758;   ICD10CM:F84.0;   ICD9CM:299.0;   NCI:C126692;   NCI:C97161;   OMIM:PS209850;   ORDO:106
For additional species annotation, visit the Alliance of Genome Resources.



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  • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 35773
        Developmental Disease 28613
          Neurodevelopmental Disorders 13582
            pervasive developmental disorder 6936
              autism spectrum disorder 6921
                autistic disorder 6257
                  Intellectual Developmental Disorder with Autism and Dysmorphic Facies 1
                  Intellectual Developmental Disorder with Autism and Macrocephaly 4
                  Intellectual Developmental Disorder with Autism and Speech Delay 2
                  Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies 2
                  NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS 2
                  NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER 1
                  Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities 1
                  Timothy syndrome 4
                  adenylosuccinase lyase deficiency 134
                  branched-chain keto acid dehydrogenase kinase deficiency 40
                  chromosome 16p11.2 deletion syndrome, 593-kb 120
                  chromosome 1q21.1 duplication syndrome 53
                  intellectual disability-severe speech delay-mild dysmorphism syndrome 6
                  macrocephaly-autism syndrome 4
    Path 2
    Term Annotations click to browse term
      disease 35773
        disease of anatomical entity 32516
          nervous system disease 26410
            central nervous system disease 23611
              brain disease 22049
                disease of mental health 17235
                  developmental disorder of mental health 12024
                    pervasive developmental disorder 6936
                      autism spectrum disorder 6921
                        autistic disorder 6257
                          Intellectual Developmental Disorder with Autism and Dysmorphic Facies 1
                          Intellectual Developmental Disorder with Autism and Macrocephaly 4
                          Intellectual Developmental Disorder with Autism and Speech Delay 2
                          Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies 2
                          NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS 2
                          NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER 1
                          Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities 1
                          Timothy syndrome 4
                          adenylosuccinase lyase deficiency 134
                          branched-chain keto acid dehydrogenase kinase deficiency 40
                          chromosome 16p11.2 deletion syndrome, 593-kb 120
                          chromosome 1q21.1 duplication syndrome 53
                          intellectual disability-severe speech delay-mild dysmorphism syndrome 6
                          macrocephaly-autism syndrome 4
    paths to the root