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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 IAGP ClinVar Annotator: match by term: Auriculocondylar syndrome 2 ClinVar
OMIM
PMID:16114046, PMID:18314001, PMID:18680186, PMID:18686566, PMID:19152421, PMID:22286465, PMID:22560091, PMID:23315542, PMID:25741868, PMID:27007857, PMID:28328130, PMID:28492532 NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,068,763...9,481,242
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    syndrome 7887
      Auriculocondylar Syndrome 3
        Auriculocondylar Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 18864
    disease of anatomical entity 17349
      nervous system disease 13439
        sensory system disease 5735
          Otorhinolaryngologic Diseases 1307
            auditory system disease 836
              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.