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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: MIM:614332;   RDO:9001543



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 ClinVar Annotator: match by term: Chromosome 2P16.3 deletion syndrome | ClinVar Annotator: match by term: Chromosome 2p16.3 deletion syndrome ClinVar
OMIM
PMID:18179900 PMID:18945720 PMID:21681106 PMID:23495017 PMID:25741868 More... NCBI chr 6:3,177,788...4,323,848
Ensembl chr 6:3,177,897...4,322,710
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    syndrome 11109
      CHROMOSOME 2p16.3 DELETION SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 19076
    Pathological Conditions, Signs and Symptoms 13489
      Pathologic Processes 8106
        Chromosome Aberrations 2574
          Aneuploidy 1862
            Monosomy 1586
              Chromosome Deletion 1586
                CHROMOSOME 2p16.3 DELETION SYNDROME 1
paths to the root