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congenital myasthenic syndrome 4B - Ontology Report - Rat Genome Database

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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
 xref: MIM:616324;   MONDO:0014586

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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: Congenital myasthenic syndrome 4B | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4b, fast-channel OMIM
ClinVar		 PMID:8232384 PMID:8663316 PMID:8755487 PMID:8957026 PMID:9097970 More... NCBI chrNW_004955467:10,312,620...10,318,700
Ensembl chrNW_004955467:10,312,620...10,318,638 		JBrowse link
G CUNH17orf107 chromosome unknown C17orf107 homolog ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4B | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4b, fast-channel ClinVar PMID:8232384 PMID:8663316 PMID:8755487 PMID:9097970 PMID:9158150 More... NCBI chrNW_004955467:10,313,693...10,314,724
Ensembl chrNW_004955467:10,313,769...10,314,694 		JBrowse link
G Mink1 misshapen like kinase 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4B ClinVar PMID:9097970 PMID:9668239 PMID:10496269 PMID:10514102 PMID:10534268 More... NCBI chrNW_004955467:10,256,722...10,312,011
Ensembl chrNW_004955467:10,256,434...10,313,834 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14338
    physical disorder 4838
      congenital myasthenic syndrome 179
        Congenital Myasthenic Syndrome, Fast-Channel 5
          congenital myasthenic syndrome 4B 3
Path 2
Term Annotations click to browse term
  disease 14338
    disease of anatomical entity 14031
      nervous system disease 12352
        peripheral nervous system disease 4091
          neuropathy 3913
            neuromuscular disease 3002
              neuromuscular junction disease 203
                congenital myasthenic syndrome 179
                  Congenital Myasthenic Syndrome, Fast-Channel 5
                    congenital myasthenic syndrome 4B 3
paths to the root