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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
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G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: CHRNA1-Related Congenital Myasthenic Syndrome OMIM
ClinVar
PMID:25741868 NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          congenital myasthenic syndrome 87
            congenital myasthenic syndrome 1A 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            neuromuscular disease 1777
              neuromuscular junction disease 114
                congenital myasthenic syndrome 87
                  congenital myasthenic syndrome 1A 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.