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 QTLs Strains Markers Genome Information Ontologies Cell Lines References 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 VCMap
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 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 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:congenital myasthenic syndrome 2C
go back to main search page
Accession:DOID:0110680 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: CMS2C;   congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency
 primary_id: OMIM:616314
 alt_id: RDO:9004859
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
congenital myasthenic syndrome 2C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2C OMIM
ClinVar		 PMID:10562302 PMID:25741868 NCBI chr10:54,501,096...54,516,418
Ensembl chr10:54,501,093...54,516,345 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    physical disorder 4194
      congenital myasthenic syndrome 133
        congenital myasthenic syndrome 2C 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        peripheral nervous system disease 3018
          neuropathy 2804
            neuromuscular disease 2223
              neuromuscular junction disease 162
                congenital myasthenic syndrome 133
                  Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency 4
                    congenital myasthenic syndrome 2C 1
paths to the root