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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:exact_synonym: DCHE
 primary_id: MESH:C566604
 alt_id: MIM:617992



show annotations for term's descendants           Sort by:
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 OMIM
ClinVar
PMID:9585603 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 More... NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    Developmental Disease 14561
      congenital heart disease 1385
        Deafness, Congenital Heart Defects, and Posterior Embryotoxon 1
Path 2
Term Annotations click to browse term
  disease 19076
    disease of anatomical entity 18367
      nervous system disease 14218
        Neurologic Manifestations 10284
          sensory system disease 7183
            Otorhinolaryngologic Diseases 1782
              auditory system disease 1039
                Hearing Disorders 827
                  Hearing Loss 822
                    Deafness, Congenital Heart Defects, and Posterior Embryotoxon 1
paths to the root