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:Congenital Myasthenic Syndrome 24
go back to main search page
Accession:DOID:9009246 term browser browse the term
Synonyms:exact_synonym: CMS24;   MYO9A-RELATED CONDITION;   presynaptic congenital myasthenic syndrome-24
 primary_id: OMIM:618198


show annotations for term's descendants           Sort by:
Congenital Myasthenic Syndrome 24 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: MYO9A-related condition | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 24, presynaptic OMIM
ClinVar		 PMID:25741868 PMID:26752647 PMID:27259756 PMID:28492532 PMID:30237576 More... NCBI chr 8:60,149,234...60,352,330
Ensembl chr 8:60,149,234...60,350,514 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    physical disorder 4964
      congenital myasthenic syndrome 190
        Congenital Myasthenic Syndrome 24 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        peripheral nervous system disease 4123
          neuropathy 3906
            neuromuscular disease 3058
              neuromuscular junction disease 220
                congenital myasthenic syndrome 190
                  Congenital Myasthenic Syndrome 24 1
paths to the root