Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
Accession:DOID:12849 term browser browse the term
Definition:A disorder beginning 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-V)
Synonyms:exact_synonym: AUTISM WITH OR WITHOUT SEIZURES;   AUTISTIC DISORDER OF CHILDHOOD ONSET;   CHROMOSOME 15q11-q13 DUPLICATION SYNDROME;   CHROMOSOME Xp22 DELETION SYNDROME;   Early Infantile Autism;   Epsilon-Trimethyllysine Hydroxylase Deficiency;   Kanner syndrome;   Kanner's syndrome;   Kanners syndrome;   TMLHED;   autism;   autism-related phrase speech delay;   autistic behavior;   autistic disorders;   childhood autism;   infantile autism
 narrow_synonym: ASD;   Autism 1;   Autism, Severe;   CHD8-RELATED DISORDERS;   CHROMOSOME 15q11.2 DUPLICATION SYNDROME;   X-linked mental retardation
 related_synonym: AUTISM, SUSCEPTIBILITY TO, 20;   AUTISTIC DISORDER AUTISM, SUSCEPTIBILITY TO, 1;   AUTS1;   AUTS10;   AUTS11;   AUTS12;   AUTS13;   AUTS15;   AUTS16;   AUTS17;   AUTS18;   AUTS19;   AUTS2;   AUTS20;   AUTS3;   AUTS4;   AUTS5;   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, 18;   autism, susceptibility to, 3;   autism, susceptibility to, 5;   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:606053;   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:615032;   OMIM:615091
 xref: ICD10CM:F84.0;   ICD9CM:299.0;   NCI:C126692;   NCI:C97161;   OMIM:PS209850;   ORDO:106
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 0
    Developmental Diseases 0
      Neurodevelopmental Disorders 0
        Pervasive Child Development Disorders 0
          autism spectrum disorder 0
            autistic disorder 0
              16p11.2 Deletion Syndrome 0
              Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies 0
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS 0
              NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES 0
              Timothy syndrome 0
              adenylosuccinase lyase deficiency 0
              branched-chain keto acid dehydrogenase kinase deficiency 0
              chromosome 1q21.1 duplication syndrome 0
              intellectual disability-severe speech delay-mild dysmorphism syndrome 0
              macrocephaly-autism syndrome 0
Path 2
Term Annotations click to browse term
  disease 0
    disease of anatomical entity 0
      nervous system disease 0
        central nervous system disease 0
          brain disease 0
            disease of mental health 0
              developmental disorder of mental health 0
                pervasive developmental disorder 0
                  autism spectrum disorder 0
                    autistic disorder 0
                      16p11.2 Deletion Syndrome 0
                      Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies 0
                      NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS 0
                      NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES 0
                      Timothy syndrome 0
                      adenylosuccinase lyase deficiency 0
                      branched-chain keto acid dehydrogenase kinase deficiency 0
                      chromosome 1q21.1 duplication syndrome 0
                      intellectual disability-severe speech delay-mild dysmorphism syndrome 0
                      macrocephaly-autism syndrome 0
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.