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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 4A
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Accession:DOID:0110678 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: CMS Ia1;   CMS1A1;   CMS4A;   Congenital Myasthenic Syndrome Type Ia1;   Myasthenia, Familial Infantile, 1;   congenital myasthenic syndrome 4A, slow-channel;   congenital myasthenic syndrometype Ia1
 primary_id: MESH:C565289
 alt_id: OMIM:605809
For additional species annotation, visit the Alliance of Genome Resources.


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congenital myasthenic syndrome 4A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel OMIM
ClinVar		 PMID:3651795 PMID:7531341 PMID:7538206 PMID:7863154 PMID:8232384 More... NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530 		JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A ClinVar PMID:28492532 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774 		JBrowse link
G LOC687707 hypothetical protein LOC687707 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel ClinVar PMID:3651795 PMID:7531341 PMID:7538206 PMID:7863154 PMID:8232384 More... NCBI chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196 		JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A ClinVar PMID:28492532 NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631 		JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A ClinVar PMID:28492532 NCBI chr10:55,360,603...55,364,927
Ensembl chr10:55,360,543...55,364,927 		JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A ClinVar PMID:28492532 NCBI chr10:55,358,163...55,360,278
Ensembl chr10:55,357,597...55,360,410 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    physical disorder 4312
      congenital myasthenic syndrome 134
        congenital myasthenic syndrome 4A 6
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13207
        peripheral nervous system disease 3056
          neuropathy 2837
            neuromuscular disease 2227
              neuromuscular junction disease 163
                congenital myasthenic syndrome 134
                  congenital myasthenic syndrome 4A 6
paths to the root