ONTOLOGY REPORT - ANNOTATIONS

Term:Autistic Disorder
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Accession:RDO:0004948 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-IV)
Synonyms:exact_synonym: ASD;   AUTISM SPECTRUM DISORDER;   AUTISM WITH OR WITHOUT SEIZURES;   AUTISM, SUSCEPTIBILITY TO, 10;   AUTISM, SUSCEPTIBILITY TO, 11;   AUTISM, SUSCEPTIBILITY TO, 12;   AUTISM, SUSCEPTIBILITY TO, 13;   AUTISM, SUSCEPTIBILITY TO, 14A;   AUTISM, SUSCEPTIBILITY TO, 15;   AUTISM, SUSCEPTIBILITY TO, 16;   AUTISM, SUSCEPTIBILITY TO, 17;   AUTISM, SUSCEPTIBILITY TO, 3;   AUTISM, SUSCEPTIBILITY TO, 5;   AUTISM, SUSCEPTIBILITY TO, 6;   AUTISM, SUSCEPTIBILITY TO, 7;   AUTISM, SUSCEPTIBILITY TO, 8;   AUTISM, SUSCEPTIBILITY TO, 9;   AUTISTIC DISORDER AUTISM, SUSCEPTIBILITY TO, 1;   AUTS1;   AUTS10;   AUTS11;   AUTS12;   AUTS13;   AUTS14A;   AUTS15;   AUTS16;   AUTS17;   AUTS2;   AUTS3;   AUTS4;   AUTS5;   AUTS6;   AUTS7;   AUTS8;   AUTS9;   Autism;   Autisms;   CHROMOSOME 15q11-q13 DUPLICATION SYNDROME;   CHROMOSOME 15q11.2 MICRODUPLICATION SYNDROME;   CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB;   DUPLICATION 15q11-q13 SYNDROME AUTISM, SUSCEPTIBILITY TO, 4;   Disorders, Autistic;   Early Infantile Autism;   Infantile Autism;   Kanner Syndrome;   Kanner's Syndrome;   Kanners Syndrome;   PHRASE SPEECH DELAY, AUTISM-RELATED
 related_synonym: AUTISM-SPEECH DELAY
 primary_id: MESH:D001321
 alt_id: OMIM:209850;   OMIM:600565;   OMIM:601728;   OMIM:606053;   OMIM:607373;   OMIM:608049;   OMIM:608636;   OMIM:609378;   OMIM:610676;   OMIM:610836;   OMIM:610838;   OMIM:610908;   OMIM:611015;   OMIM:611016;   OMIM:611913;   OMIM:612100;   OMIM:613410;   OMIM:613436

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Autistic Disorder term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G C4b complement component 4B (Chido blood group) GBrowse link ISS 20 4,300,687 4,315,882 RGD:5688257 RGD
G Cntnap2 contactin associated protein-like 2 GBrowse link ISS 4 74,277,978 75,440,178 RGD:7240710 OMIM
G Cspg4 chondroitin sulfate proteoglycan 4 GBrowse link ISS 8 60,610,835 60,645,877 RGD:5686862 RGD
G Dab1 Dab, reelin signal transducer, homolog 1 (Drosophila) GBrowse link ISS 5 125,434,133 125,694,562 RGD:2317973 RGD
G Disc1 disrupted in schizophrenia 1 GBrowse link Susceptibility ISS 19 55,265,116 55,449,375 RGD:5509836 RGD
G Disc1 disrupted in schizophrenia 1 GBrowse link ISS 19 55,265,116 55,449,375 RGD:5509826 RGD
G En2 engrailed homeobox 2 GBrowse link ISS 4 2,469,889 2,475,729 RGD:7240710 OMIM
G Gabra2 gamma-aminobutyric acid (GABA) A receptor, alpha 2 GBrowse link ISS 14 39,568,677 39,705,897 RGD:6480256 RGD
G Gabra4 gamma-aminobutyric acid (GABA) A receptor, alpha 4 GBrowse link ISS 14 39,047,461 39,122,531 RGD:6480253 RGD
G Gabra4 gamma-aminobutyric acid (GABA) A receptor, alpha 4 GBrowse link ISS 14 39,047,461 39,122,531 RGD:6480254 RGD
G Gabra5 gamma-aminobutyric acid (GABA) A receptor, alpha 5 GBrowse link ISS 1 108,843,086 108,955,130 RGD:6480253 RGD
G Gabrb1 gamma-aminobutyric acid (GABA) A receptor, beta 1 GBrowse link ISS 14 38,530,259 39,005,615 RGD:6480253 RGD
G Gabrb1 gamma-aminobutyric acid (GABA) A receptor, beta 1 GBrowse link ISS 14 38,530,259 39,005,615 RGD:6480254 RGD
G Gabrb2 gamma-aminobutyric acid (GABA) A receptor, beta 2 GBrowse link ISS 10 27,602,085 27,819,145 RGD:6480256 RGD
G Gabrr2 gamma-aminobutyric acid (GABA) A receptor, rho 2 GBrowse link ISS 5 49,349,963 49,387,218 RGD:6480256 RGD
G Glo1 glyoxalase 1 GBrowse link Resistance ISS 20 8,900,984 8,919,001 RGD:7242568 RGD
G Grm8 glutamate receptor, metabotropic 8 GBrowse link ISS 4 53,976,781 54,902,331 RGD:1358645 RGD
G Grn granulin GBrowse link ISS 10 91,536,135 91,542,239 RGD:5509590 RGD
G Gstm1 glutathione S-transferase mu 1 GBrowse link ISS 2 203,575,444 203,580,821 RGD:5490260 RGD
G Gstm1 glutathione S-transferase mu 1 GBrowse link ISS 2 203,575,444 203,580,821 RGD:5148003 RGD
G Hoxa1 homeo box A1 GBrowse link ISS 4 80,456,728 80,458,388 RGD:1358730 RGD
G Hras Harvey rat sarcoma virus oncogene GBrowse link ISS 1 201,385,705 201,388,987 RGD:1358733 RGD
G Lamb1 laminin, beta 1 GBrowse link ISS 6 49,115,671 49,183,374 RGD:1624317 RGD
G Met met proto-oncogene GBrowse link ISS 4 43,134,183 43,211,355 RGD:1600124 RGD
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase GBrowse link Susceptibility ISS 17 68,782,708 68,867,101 RGD:5508202 RGD
G Nrxn1 neurexin 1 GBrowse link ISS 6 14,050,929 15,354,069 RGD:7240710 OMIM
G Ntrk2 neurotrophic tyrosine kinase, receptor, type 2 GBrowse link ISS 17 11,494,463 11,811,654 RGD:5684891 RGD
G Pecam1 platelet/endothelial cell adhesion molecule 1 GBrowse link ISS 10 96,056,220 96,057,232 RGD:6484728 RGD
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma GBrowse link ISS 6 50,441,892 50,476,931 RGD:6482702 RGD
G Pten phosphatase and tensin homolog GBrowse link ISS 1 236,771,027 236,837,261 RGD:7240710 OMIM
G Reln reelin GBrowse link ISS 4 8,150,873 8,609,141 RGD:2317973 RGD
G Reln reelin GBrowse link ISS 4 8,150,873 8,609,141 RGD:1358567 RGD
G RT1-Db1 RT1 class II, locus Db1 GBrowse link ISS 20 4,671,489 4,681,058 RGD:5147556 RGD
G Shank2 SH3 and multiple ankyrin repeat domains 2 GBrowse link ISS 1 204,399,856 204,855,474 RGD:7240710 OMIM
G Slc25a12 solute carrier family 25 (mitochondrial carrier, Aralar), member 12 GBrowse link ISS 3 53,620,160 53,680,498 RGD:1358576 RGD
G Slc6a4 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 GBrowse link ISS 10 67,134,790 67,155,891 RGD:1358567 RGD
G Slc9a9 solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 GBrowse link ISS 8 99,736,831 100,324,858 RGD:7240710 OMIM
G Stat3 signal transducer and activator of transcription 3 (acute-phase response factor) GBrowse link ISS 10 89,821,078 89,872,970 RGD:6483028 RGD
G Tph2 tryptophan hydroxylase 2 GBrowse link ISS 7 54,321,033 54,430,706 RGD:5686360 RGD
G Tph2 tryptophan hydroxylase 2 GBrowse link No_Association ISS 7 54,321,033 54,430,706 RGD:5686361 RGD
G Vldlr very low density lipoprotein receptor GBrowse link ISS 1 230,666,736 230,697,748 RGD:2317973 RGD
AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Nlgn3 neuroligin 3 GBrowse link ISS X 89,376,193 89,398,665 RGD:7240710 OMIM
AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mecp2 methyl CpG binding protein 2 GBrowse link ISS X 159,980,599 160,035,260 RGD:7240710 OMIM
Macrocephaly Autism Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pten phosphatase and tensin homolog GBrowse link ISS 1 236,771,027 236,837,261 RGD:7240710 OMIM
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Foxp1 forkhead box P1 GBrowse link ISS 4 133,773,373 134,007,018 RGD:7240710 OMIM
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  Diseases 30477
    Mental Disorders 1629
      Mental Disorders Diagnosed in Childhood 360
        Child Development Disorders, Pervasive 49
          Autistic Disorder 45
            AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 1
            AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 0
            AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 1
            Chromosome 1q21.1 Duplication Syndrome 0
            MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 1
            Macrocephaly Autism Syndrome 1
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