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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:Asperger syndrome
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Accession:DOID:0050432 term browser browse the term
Definition:An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. (DO)
Synonyms:exact_synonym: ASPG;   Asperger disease;   Asperger diseases;   Asperger disorder;   Asperger disorders;   Asperger's Disease;   Asperger's diseases;   Asperger's disorder;   Asperger's syndrome;   Aspergers disease;   Aspergers disorder;   Aspergers syndrome
 related_synonym: ASPG1;   ASPG2;   ASPG3;   ASPG4;   ASPGX1;   ASPGX2;   Asperger Syndrome, Susceptibility To, 1;   Asperger Syndrome, Susceptibility To, 2;   Asperger Syndrome, Susceptibility To, 3;   Asperger Syndrome, Susceptibility To, 4;   Asperger Syndrome, X-Linked, Susceptibility To, 1;   Asperger Syndrome, X-Linked, Susceptibility To, 2
 primary_id: MESH:D020817
 alt_id: OMIM:608631;   OMIM:608638;   OMIM:608781;   OMIM:609954
 xref: EFO:0003757;   GARD:5855;   ICD10CM:F84.5;   MONDO:0005259;   NCI:C97159;   OMIM:PS608638;   ORDO:1162


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Asperger syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Disc1 disrupted in schizophrenia 1 susceptibility ISO DNA:SNPs: :
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17579608 PMID:18317464 RGD:5509836 NCBI chr 8:125,773,928...125,991,882
Ensembl chr 8:125,780,934...125,988,597 		JBrowse link
G Slc25a12 solute carrier family 25 (mitochondrial carrier, Aralar), member 12 susceptibility ISO DNA:SNP: :rs6716901(human) RGD PMID:24679184 RGD:13628740 NCBI chr 2:71,104,614...71,198,125
Ensembl chr 2:71,101,407...71,198,093 		JBrowse link
G Slc6a4 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18197083 NCBI chr11:76,889,423...76,923,169
Ensembl chr11:76,889,429...76,923,166 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    syndrome 10334
      Asperger syndrome 3
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            disease of mental health 8197
              developmental disorder of mental health 5587
                pervasive developmental disorder 2404
                  autism spectrum disorder 2389
                    Asperger syndrome 3
paths to the root