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:congenital myasthenic syndrome 19
go back to main search page
Accession:DOID:0110673 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22. (DO)
Synonyms:exact_synonym: CMS19;   COL13A1-RELATED CONDITION
 xref: MIM:616720;   MONDO:0014745


show annotations for term's descendants           Sort by:
congenital myasthenic syndrome 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col13a1 collagen type XIII alpha 1 chain ISO
ISS		 ClinVar Annotator: match by term: COL13A1-related condition | ClinVar Annotator: match by term: Congenital myasthenic syndrome 19
OMIM:616720		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26626625 More... NCBI chr20:29,783,965...29,924,116
Ensembl chr20:29,783,965...29,924,032 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    physical disorder 5165
      congenital myasthenic syndrome 191
        congenital myasthenic syndrome 19 1
Path 2
Term Annotations click to browse term
  disease 19055
    disease of anatomical entity 18391
      nervous system disease 14264
        peripheral nervous system disease 4264
          neuropathy 4051
            neuromuscular disease 3194
              neuromuscular junction disease 221
                congenital myasthenic syndrome 191
                  congenital myasthenic syndrome 19 1
paths to the root