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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, PMID:28492532 NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
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 chr10:57,238,960...57,246,750
Ensembl chr10:57,238,946...57,243,435
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 chr10:57,239,993...57,240,948
Ensembl chr10:57,239,993...57,240,947
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          congenital myasthenic syndrome 87
            Congenital Myasthenic Syndrome, Fast-Channel 4
              congenital myasthenic syndrome 1B 3
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        peripheral nervous system disease 2476
          neuropathy 2297
            neuromuscular disease 1778
              neuromuscular junction disease 114
                congenital myasthenic syndrome 87
                  Congenital Myasthenic Syndrome, Fast-Channel 4
                    congenital myasthenic syndrome 1B 3
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.