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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 1
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Accession:DOID:9002492 term browser browse the term
Synonyms:exact_synonym: ARCND1
 primary_id: MIM:602483


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 OMIM
ClinVar		 PMID:11102934 PMID:22560091 PMID:23315542 PMID:25026904 PMID:25741868 More... NCBI chr 1:111,925,668...111,971,941
Ensembl chr 1:111,154,060...111,198,768 		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:25741868 NCBI chr20:9,042,127...9,454,207
Ensembl chr20:9,192,061...9,456,443 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15809
    syndrome 10611
      Auriculocondylar Syndrome 4
        Auriculocondylar Syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 15809
    disease of anatomical entity 15486
      nervous system disease 13579
        Neurologic Manifestations 10044
          sensory system disease 7027
            Otorhinolaryngologic Diseases 1733
              auditory system disease 1003
                Auriculocondylar Syndrome 4
                  Auriculocondylar Syndrome 1 2
paths to the root