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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Gnai3 G protein subunit alpha i3 ISO CTD Direct Evidence: marker/mechanism CTD 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Auriculocondylar syndrome
CTD
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
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
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 OMIM:614669
ClinVar Annotator: match by term: Auriculocondylar syndrome 2
OMIM
ClinVar
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 chr 3:128,601,163...128,971,720
Ensembl chr 3:128,756,799...128,971,746
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 OMIM:615706 OMIM
ClinVar
PMID:12244558, PMID:23315542, PMID:24268655 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Auriculocondylar Syndrome 3
        Auriculocondylar Syndrome 1 2
        Auriculocondylar Syndrome 2 1
        Auriculocondylar Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          Otorhinolaryngologic Diseases 1190
            auditory system disease 754
              Auriculocondylar Syndrome 3
                Auriculocondylar Syndrome 1 2
                Auriculocondylar Syndrome 2 1
                Auriculocondylar Syndrome 3 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.