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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 type IIa;   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 (formerly)
 alt_id: OMIM:601462
For additional species annotation, visit the Alliance of Genome Resources.



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congenital myasthenic syndrome 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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: Myasthenic syndrome, congenital, postsynaptic slow-channel ClinVar PMID:9708546 PMID:20301347 PMID:20562457 PMID:22678886 PMID:24033266 More... NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530
JBrowse link
G LOC687707 hypothetical protein LOC687707 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic slow-channel ClinVar PMID:9708546 PMID:20301347 PMID:20562457 PMID:22678886 PMID:24033266 More... NCBI chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18110
    physical disorder 4091
      congenital myasthenic syndrome 134
        congenital myasthenic syndrome 1A 4
Path 2
Term Annotations click to browse term
  disease 18110
    disease of anatomical entity 17482
      nervous system disease 13149
        peripheral nervous system disease 2990
          neuropathy 2782
            neuromuscular disease 2200
              neuromuscular junction disease 162
                congenital myasthenic syndrome 134
                  congenital myasthenic syndrome 1A 4
paths to the root