Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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 1
go back to main search page
Accession:DOID:9002492 term browser browse the term
Synonyms:exact_synonym: ARCND1
 primary_id: OMIM:602483
 alt_id: RDO:0004227
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Auriculocondylar Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnai3 G protein subunit alpha i3 ISO ClinVar Annotator: match by term: Auriculocondylar syndrome 1
ClinVar Annotator: match by OMIM:602483
OMIM
ClinVar
PMID:11102934, PMID:22560091, PMID:23315542, PMID:25741868 NCBI chr 2:210,896,779...210,934,733
Ensembl chr 2:210,896,656...210,934,749
JBrowse link
G Plcb4 phospholipase C, beta 4 ISO ClinVar Annotator: match by term: Auriculocondylar syndrome 1 ClinVar PMID:16114046, PMID:18314001, PMID:22560091, PMID:23315542, PMID:27007857, PMID:28328130 NCBI chr 3:128,601,163...128,971,720
Ensembl chr 3:128,756,799...128,971,746
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Auriculocondylar Syndrome 3
        Auriculocondylar Syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          Otorhinolaryngologic Diseases 1190
            auditory system disease 754
              Auriculocondylar Syndrome 3
                Auriculocondylar Syndrome 1 2
paths to the root

NHLBI Logo

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