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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:Deafness, Congenital Heart Defects, and Posterior Embryotoxon
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Accession:DOID:9008743 term browser browse the term
Synonyms:primary_id: MESH:C566604;   RDO:0014917
For additional species annotation, visit the Alliance of Genome Resources.


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Deafness, Congenital Heart Defects, and Posterior Embryotoxon term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Deafness, congenital heart defects, and posterior embryotoxon ClinVar PMID:12022040 PMID:20437614 PMID:25741868 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      congenital heart disease 1057
        Deafness, Congenital Heart Defects, and Posterior Embryotoxon 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        sensory system disease 5168
          Otorhinolaryngologic Diseases 1152
            auditory system disease 740
              Hearing Disorders 600
                Hearing Loss 596
                  Deafness, Congenital Heart Defects, and Posterior Embryotoxon 1
paths to the root