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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 4B
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Accession:DOID:0110677 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: CMS4B;   congenital myasthenic syndrome 4B, fast-channel
 primary_id: OMIM:616324
 alt_id: RDO:9004318
For additional species annotation, visit the Alliance of Genome Resources.


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congenital myasthenic syndrome 4B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4b, fast-channel OMIM
ClinVar
PMID:8232384 PMID:8755487 PMID:9097970 PMID:9158150 PMID:9668239 PMID:10496269 PMID:10514102 PMID:10534268 PMID:10962020 PMID:15322984 PMID:15367858 PMID:22592360 PMID:25326635 PMID:25741868 PMID:26467025 PMID:27634344 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: Myasthenic syndrome, congenital, 4b, fast-channel ClinVar PMID:8232384 PMID:8755487 PMID:9158150 PMID:22592360 PMID:25741868 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 16085
    physical disorder 2526
      congenital myasthenic syndrome 88
        Congenital Myasthenic Syndrome, Fast-Channel 4
          congenital myasthenic syndrome 4B 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              neuromuscular junction disease 115
                congenital myasthenic syndrome 88
                  Congenital Myasthenic Syndrome, Fast-Channel 4
                    congenital myasthenic syndrome 4B 2
paths to the root