Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References FTP Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) 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 Poster 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:Cayler Cardiofacial Syndrome
go back to main search page
Accession:DOID:9006596 term browser browse the term
Synonyms:exact_synonym: ACF;   Asymmetric crying facies;   Cayler syndrome;   Cayler's syndrome;   Depressor Anguli Oris Muscle, Hypoplasia Of;   Facial paresis partial unilateral;   Partial unilateral facial paralysis
 primary_id: MESH:C535349;   RDO:0000419
 alt_id: OMIM:125520
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
Cayler Cardiofacial Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15493068 NCBI chr 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      Cayler Cardiofacial Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            cranial nerve disease 408
              facial nerve disease 48
                facial paralysis 5
                  Cayler Cardiofacial Syndrome 1
paths to the root