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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:CHROMOSOME 2p16.3 DELETION SYNDROME
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Accession:DOID:9001388 term browser browse the term
Synonyms:primary_id: OMIM:614332;   RDO:9001543
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
CHROMOSOME 2p16.3 DELETION SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrxn1 neurexin 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 2P16.3 deletion syndrome
OMIM
CTD
ClinVar
PMID:17034946 PMID:18179900 PMID:18945720 PMID:21424692 PMID:21681106 More... NCBI chr 6:3,177,788...4,323,848
Ensembl chr 6:3,177,897...4,322,710
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      CHROMOSOME 2p16.3 DELETION SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 18032
    Pathological Conditions, Signs and Symptoms 11168
      Pathologic Processes 7535
        Chromosome Aberrations 2123
          Aneuploidy 1374
            Monosomy 1102
              Chromosome Deletion 1102
                CHROMOSOME 2p16.3 DELETION SYNDROME 1
paths to the root