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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 1B
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Accession:DOID:0110662 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. (DO)
Synonyms:exact_synonym: CMS1B;   congenital myasthenic syndrome 1B, fast-channel
 broad_synonym: CHRNA1-related congenital myasthenic syndrome
 primary_id: OMIM:608930
For additional species annotation, visit the Alliance of Genome Resources.



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congenital myasthenic syndrome 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 1B, fast-channel OMIM
ClinVar
PMID:7254233 PMID:10195214 PMID:12588888 PMID:15079006 PMID:18806275 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, 1B, fast-channel ClinVar PMID:26467025 PMID:28492532 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, 1B, fast-channel ClinVar PMID:26467025 PMID:28492532 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 18246
    physical disorder 4327
      congenital myasthenic syndrome 133
        Congenital Myasthenic Syndrome, Fast-Channel 4
          congenital myasthenic syndrome 1B 3
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      nervous system disease 13264
        peripheral nervous system disease 3064
          neuropathy 2846
            neuromuscular disease 2236
              neuromuscular junction disease 162
                congenital myasthenic syndrome 133
                  Congenital Myasthenic Syndrome, Fast-Channel 4
                    congenital myasthenic syndrome 1B 3
paths to the root