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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;   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
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 16085
    physical disorder 2526
      congenital myasthenic syndrome 88
        congenital myasthenic syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              neuromuscular junction disease 115
                congenital myasthenic syndrome 88
                  congenital myasthenic syndrome 5 1
paths to the root