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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 1A
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Accession:DOID:0110663 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. (DO)
Synonyms:exact_synonym: CMS1A;   congenital myasthenic syndrome 1A, slow-channel;   congenital myasthenic syndrome, postsynaptic slow-channel
 broad_synonym: CHRNA1-related congenital myasthenic syndrome
 related_synonym: CMS IIa (formerly);   CMS2A (formerly);   congenital myasthenic syndrome type IIa;   congenital myasthenic syndrome type IIa (formerly)
 alt_id: OMIM:601462


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congenital myasthenic syndrome 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10h17orf107 similar to human chromosome 17 open reading frame 107 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 1A | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic slow-channel ClinVar PMID:9097970 PMID:9668239 PMID:9708546 PMID:10496269 PMID:10514102 More... NCBI chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196 		JBrowse link
G Cast calpastatin ISO RGD PMID:17853947 RGD:5509810 NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659 		JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: CHRNA1-Related Congenital Myasthenic Syndrome | ClinVar Annotator: match by term: Congenital myasthenic syndrome 1A OMIM
ClinVar		 PMID:3651795 PMID:6287911 PMID:7619526 PMID:7863154 PMID:8872460 More... NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840 		JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 1A | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic slow-channel ClinVar PMID:9097970 PMID:9668239 PMID:9708546 PMID:10496269 PMID:10514102 More... NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530 		JBrowse link
G Mink1 misshapen-like kinase 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 1A ClinVar PMID:9097970 PMID:9668239 PMID:10496269 PMID:10514102 PMID:10534268 More... NCBI chr10:55,278,293...55,330,782
Ensembl chr10:55,278,391...55,330,782 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital myasthenic syndrome 190
        congenital myasthenic syndrome 1A 5
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              neuromuscular junction disease 220
                congenital myasthenic syndrome 190
                  congenital myasthenic syndrome 1A 5
paths to the root