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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;   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

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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 term: Congenital myasthenic syndrome 5 OMIM
ClinVar		 PMID:214017 PMID:8390325 PMID:9536098 PMID:9689136 PMID:9758617 More... NCBI chrNW_004936473:2,877,543...2,941,374
Ensembl chrNW_004936473:2,877,568...2,939,840 		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 chrNW_004936473:2,823,183...2,856,077
Ensembl chrNW_004936473:2,823,123...2,856,077 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    physical disorder 4664
      congenital myasthenic syndrome 183
        congenital myasthenic syndrome 5 2
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        peripheral nervous system disease 3883
          neuropathy 3701
            neuromuscular disease 2898
              neuromuscular junction disease 209
                congenital myasthenic syndrome 183
                  congenital myasthenic syndrome 5 2
paths to the root