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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: MIM:603034;   OMIA:001928
 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
ISS		 CTD Direct Evidence: marker/mechanism|therapeutic
OMIM:603034
ClinVar Annotator: match by term: Congenital myasthenic syndrome 5		 OMIM
CTD
MouseDO
ClinVar		 PMID:214017 PMID:8390325 PMID:9536098 PMID:9689136 PMID:9758617 More... NCBI chr16:6,731,850...6,824,973
Ensembl chr16:6,731,858...6,787,107 		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 chr16:6,826,881...6,863,027
Ensembl chr16:6,824,906...6,863,027 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    physical disorder 5170
      congenital myasthenic syndrome 190
        congenital myasthenic syndrome 5 2
Path 2
Term Annotations click to browse term
  disease 19047
    disease of anatomical entity 18381
      nervous system disease 14255
        peripheral nervous system disease 4261
          neuropathy 4047
            neuromuscular disease 3189
              neuromuscular junction disease 220
                congenital myasthenic syndrome 190
                  congenital myasthenic syndrome 5 2
paths to the root