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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: Congenital myasthenic syndrome 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: Congenital myasthenic syndrome 1B, fast-channel ClinVar PMID:8755487 PMID:17878953 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: Congenital myasthenic syndrome 1B, fast-channel ClinVar PMID:8755487 PMID:17878953 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 17289
    physical disorder 3103
      congenital myasthenic syndrome 91
        Congenital Myasthenic Syndrome, Fast-Channel 4
          congenital myasthenic syndrome 1B 3
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              neuromuscular junction disease 118
                congenital myasthenic syndrome 91
                  Congenital Myasthenic Syndrome, Fast-Channel 4
                    congenital myasthenic syndrome 1B 3
paths to the root