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RGD uses the Human Disease Ontology (DO, 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

show annotations for term's descendants           Sort by:
Asperger syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Disc1 DISC1 scaffold protein susceptibility ISO DNA:SNPs: :
CTD Direct Evidence: marker/mechanism
PMID:17579608 PMID:18317464 RGD:5509836 NCBI chr19:53,014,201...53,223,617
Ensembl chr19:53,014,616...53,219,778
JBrowse link
G Slc25a12 solute carrier family 25 member 12 susceptibility ISO DNA:SNP: :rs6716901(human) RGD PMID:24679184 RGD:13628740 NCBI chr 3:56,098,080...56,192,188
Ensembl chr 3:56,097,269...56,192,100
JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18197083 NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      Asperger syndrome 3
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      nervous system disease 13996
        central nervous system disease 12287
          brain disease 11531
            disease of mental health 8203
              developmental disorder of mental health 5446
                pervasive developmental disorder 2328
                  autism spectrum disorder 2312
                    Asperger syndrome 3
paths to the root