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 5
go back to main search page
Accession:DOID:0110667 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25. (DO)
Synonyms:exact_synonym: CMS Ic;   CMS1C;   CMS5;   EAD;   Endplate Acetylcholinesterase Deficiency;   Engel congenital myasthenic syndrome;   congenital myasthenic syndrome type Ic;   congenital myasthenic syndrome, Engel type;   end plate acetylcholinesterase deficiency
 narrow_synonym: congenital myasthenic syndrome, COLQ-related;   congenital myasthenic syndrome, due to COLQ
 primary_id: MESH:C566415
 alt_id: OMIA:001928;   OMIM:603034
 xref: NCI:C129304


show annotations for term's descendants           Sort by:
congenital myasthenic syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase IAGP
EXP
ISS		 ClinVar Annotator: match by term: Congenital myasthenic syndrome 5
CTD Direct Evidence: marker/mechanism|therapeutic
OMIM:603034		 ClinVar
OMIM
CTD
MouseDO		 PMID:214017 PMID:8390325 PMID:9536098 PMID:9689136 PMID:9758617 More... NCBI chr 3:15,450,133...15,521,706
Ensembl chr 3:15,450,133...15,521,751 		JBrowse link
G HACL1 2-hydroxyacyl-CoA lyase 1 ISO Myasthenic syndrome, congenital, COLQ-related OMIA PMID:25166616 PMID:27080328 PMID:29405353 PMID:31769119 PMID:32668077 NCBI chr 3:15,560,699...15,601,569
Ensembl chr 3:15,560,699...15,601,852 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35773
    physical disorder 7158
      congenital myasthenic syndrome 265
        congenital myasthenic syndrome 5 2
Path 2
Term Annotations click to browse term
  disease 35773
    disease of anatomical entity 32516
      nervous system disease 26410
        peripheral nervous system disease 5397
          neuropathy 5142
            neuromuscular disease 4050
              neuromuscular junction disease 296
                congenital myasthenic syndrome 265
                  congenital myasthenic syndrome 5 2
paths to the root