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 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
Advanced Search (OLGA)

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:jaw-winking syndrome
go back to main search page
Accession:DOID:560 term browser browse the term
Definition:A cranial nerve disease characterized by unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw. (DO)
Synonyms:exact_synonym: Familial Marcus Gunn phenomenon;   Jaw-winking;   Marcus Gunn Phenomenon;   Marcus-Gunn syndrome;   abnormal innervation syndrome of eyelid;   jaw-blinking;   maxillopalpebral synkinesis;   pterygoid-levator synkinesis
 primary_id: MESH:C535908
 alt_id: MIM:154600
 xref: ICD10CM:Q07.8;   ICD9CM:374.43
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
jaw-winking syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5c kinesin family member 5C ISO ClinVar Annotator: match by term: Jaw-winking syndrome ClinVar PMID:25741868 NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413 		JBrowse link
G Myh10 myosin heavy chain 10 ISO ClinVar Annotator: match by term: Jaw-winking syndrome ClinVar PMID:25741868 NCBI chr10:53,393,901...53,525,174
Ensembl chr10:53,394,389...53,525,165 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    physical disorder 5180
      congenital heart disease 1403
        jaw-winking syndrome 2
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13610
        Congenital Abnormalities 7780
          Musculoskeletal Abnormalities 3440
            Craniofacial Abnormalities 2765
              Maxillofacial Abnormalities 311
                Jaw Abnormalities 265
                  jaw-winking syndrome 2
paths to the root