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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
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Accession:DOID:9000208 term browser browse the term
Synonyms:exact_synonym: Question Mark Ears Syndrome;   Question mark ear;   Question-Mark Ear Syndrome;   auriculo-condylar syndrome;   ears prominent and constricted
 primary_id: MESH:C538270
 xref: OMIM:PS602483


show annotations for term's descendants           Sort by:
Auriculocondylar Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Gnai3 G protein subunit alpha i3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:195,742,765...195,780,720
Ensembl chr 2:195,742,642...195,780,742 		JBrowse link
G Plcb4 phospholipase C, beta 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Auriculocondylar syndrome		 CTD
ClinVar		 PMID:16114046 PMID:22560091 PMID:23315542 NCBI chr 3:122,952,965...123,322,522
Ensembl chr 3:122,953,196...123,322,392 		JBrowse link
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 NCBI chr 2:195,742,765...195,780,720
Ensembl chr 2:195,742,642...195,780,742 		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 NCBI chr 3:122,952,965...123,322,522
Ensembl chr 3:122,953,196...123,322,392 		JBrowse link
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 ClinVar Annotator: match by term: Auriculocondylar syndrome 2 OMIM
ClinVar		 PMID:16114046 PMID:18314001 PMID:18680186 PMID:18686566 PMID:19152421 More... NCBI chr 3:122,952,965...123,322,522
Ensembl chr 3:122,953,196...123,322,392 		JBrowse link
Auriculocondylar Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn1 endothelin 1 ISO ClinVar Annotator: match by term: Auriculocondylar syndrome 3 OMIM
ClinVar		 PMID:12244558 PMID:17357073 PMID:18288492 PMID:23315542 PMID:24268655 More... NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      Auriculocondylar Syndrome 3
        Auriculocondylar Syndrome 1 2
        Auriculocondylar Syndrome 2 1
        Auriculocondylar Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      nervous system disease 13996
        Neurologic Manifestations 9941
          sensory system disease 6836
            Otorhinolaryngologic Diseases 1778
              auditory system disease 1041
                Auriculocondylar Syndrome 3
                  Auriculocondylar Syndrome 1 2
                  Auriculocondylar Syndrome 2 1
                  Auriculocondylar Syndrome 3 1
paths to the root