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

Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
episodic ataxia +     
pathologic nystagmus +     
congenital nystagmus +   
dissociated nystagmus 
episodic ataxia type 1  
episodic ataxia type 2  
An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A. (DO)
episodic ataxia type 3 
episodic ataxia type 4 
episodic ataxia type 5  
episodic ataxia type 6  
episodic ataxia type 7 
episodic ataxia type 8 
Episodic Ataxia Type 9  
Hereditary Vertical Nystagmus 
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis  
Myoclonic Nystagmus 
Neuhauser Daly Magnelli Syndrome 
Singh Chhaparwal Dhanda Syndrome 
Split Hand, Split Foot, Nystagmus 
spontaneous ocular nystagmus 
Zonular Cataract and Nystagmus 

Synonyms
Exact Synonyms: APCA ;   Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia ;   Ataxia, Familial Paroxysmal ;   CAPA ;   Cerebellar ataxia, paroxysmal, Acetazolamide-responsive ;   Cerebellopathy, hereditary paroxysmal ;   EA2 ;   Episodic ataxia with nystagmus ;   acetazolamide-responsive episodic ataxia syndrome ;   nystagmus-associated episodic ataxia
Narrow Synonyms: EPISODIC ATAXIA, TYPE 2, AND EPILEPSY
Primary IDs: MESH:C535506
Alternate IDs: OMIM:108500
Xrefs: NCI:C202603
Definition Sources: https://www.omim.org/entry/108500 "DO" "DO"

paths to the root