Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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 PMID:25741868 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 More... 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 PMID:25741868 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 2A | 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
Auriculocondylar Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac9 histone deacetylase 9 ISO ClinVar Annotator: match by term: Auriculocondylar syndrome 4 OMIM
ClinVar		 PMID:18000524 PMID:34750192 NCBI chr 6:50,762,074...51,624,311
Ensembl chr 6:50,763,590...51,625,333 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Auriculocondylar Syndrome 4
        Auriculocondylar Syndrome 1 2
        Auriculocondylar Syndrome 2 1
        Auriculocondylar Syndrome 3 1
        Auriculocondylar Syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            Otorhinolaryngologic Diseases 1735
              auditory system disease 992
                Auriculocondylar Syndrome 4
                  Auriculocondylar Syndrome 1 2
                  Auriculocondylar Syndrome 2 1
                  Auriculocondylar Syndrome 3 1
                  Auriculocondylar Syndrome 4 1
paths to the root