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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
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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;   Congenital Myasthenic Syndrome Type Ic;   EAD;   Endplate Acetylcholinesterase Deficiency;   Engel Congenital Myasthenic Syndrome;   Myasthenic Syndrome, Congenital, Engel Type;   end plate acetylcholinesterase deficiency
 narrow_synonym: Myasthenic syndrome, congenital, COLQ-related;   Myasthenic syndrome, congenital, due to COLQ
 primary_id: MESH:C566415
 alt_id: OMIA:001928;   OMIM:603034;   RDO:0014775
For additional species annotation, visit the Alliance of Genome Resources.


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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 ISO ClinVar Annotator: match by OMIM:603034
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by term: Endplate acetylcholinesterase deficiency
OMIM
ClinVar
CTD
PMID:214017, PMID:9689136, PMID:9758617, PMID:10441569, PMID:10665486, PMID:11865139, PMID:14702351, PMID:15248101, PMID:18180250, PMID:18414213, PMID:18567859, PMID:21952943, PMID:22088788, PMID:22490774, PMID:22678886, PMID:22981737, PMID:23108489, PMID:23553736, PMID:24033266, PMID:24281389, PMID:25557462, PMID:25741868, PMID:26467025, PMID:27830186, PMID:28024842, PMID:28492532, PMID:29395675, PMID:30124556 NCBI chr16:7,626,380...7,681,621
Ensembl chr16:7,627,603...7,681,576
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          congenital myasthenic syndrome 87
            congenital myasthenic syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              neuromuscular junction disease 114
                congenital myasthenic syndrome 87
                  congenital myasthenic syndrome 5 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.