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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:A disorder beginning in childhood whose essential features are persistent impairment in reciprocal social communication and social interaction, and restricted, repetitive patterns of behavior, interests, or activities. These symptoms may limit or impair everyday functioning. (From DSM-5)
Synonyms:exact_synonym: Asperger Disorder;   Asperger disease;   Asperger diseases;   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:300494;   OMIM:300497;   OMIM:608631;   OMIM:608638;   OMIM:608781;   OMIM:609954;   RDO:0007436;   RDO:0008601;   RDO:0008604
 xref: GARD:5855;   ICD10CM:F84.5;   NCI:C97159;   OMIM:PS608638;   ORDO:1162
For additional species annotation, visit the Alliance of Genome Resources.


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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
CTD PMID:17579608, PMID:18317464 RGD:5509836 NCBI chr19:57,818,838...58,069,992
Ensembl chr19:57,820,260...58,066,152
JBrowse link
G Nlgn3 neuroligin 3 susceptibility ISO ClinVar Annotator: match by term: ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:12669065, PMID:15150161, PMID:15152050 NCBI chr  X:71,199,390...71,227,460
Ensembl chr  X:71,199,491...71,222,732
JBrowse link
G Slc25a12 solute carrier family 25 member 12 susceptibility ISO DNA:SNP: :rs6716901(human) RGD PMID:24679184 RGD:13628740 NCBI chr 3:57,881,951...57,998,214
Ensembl chr 3:57,882,370...57,957,346
JBrowse link
G Slc6a4 solute carrier family 6 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18197083 NCBI chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Asperger syndrome 4
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                pervasive developmental disorder 1813
                  autism spectrum disorder 1807
                    Asperger syndrome 4
paths to the root

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