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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;   RDO:0001520
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 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464
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 PMID:9158151 PMID:9221765 PMID:16685696 PMID:25741868 PMID:28492532 PMID:29054425 NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    physical disorder 3070
      congenital myasthenic syndrome 90
        congenital myasthenic syndrome 1A 2
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        peripheral nervous system disease 2516
          neuropathy 2316
            neuromuscular disease 1829
              neuromuscular junction disease 117
                congenital myasthenic syndrome 90
                  congenital myasthenic syndrome 1A 2
paths to the root