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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:Auriculocondylar Syndrome 2
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Accession:DOID:9006036 term browser browse the term
Synonyms:exact_synonym: ARCND2
 primary_id: OMIM:614669
 alt_id: RDO:9000189
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Auriculocondylar Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plcb4 phospholipase C beta 4 ISO OMIM NCBI chrNW_004936485:9,991,731...10,353,231 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11962
    syndrome 5860
      Auriculocondylar Syndrome 3
        Auriculocondylar Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 11962
    disease of anatomical entity 11526
      nervous system disease 9457
        sensory system disease 4631
          Otorhinolaryngologic Diseases 1070
            auditory system disease 666
              Auriculocondylar Syndrome 3
                Auriculocondylar Syndrome 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.