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ONTOLOGY REPORT - ANNOTATIONS


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
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congenital myasthenic syndrome 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrne cholinergic receptor nicotinic epsilon subunit JBrowse link 10 57,238,960 57,246,750 RGD:7240710
RGD:8554872
G LOC687707 hypothetical protein LOC687707 JBrowse link 10 57,239,993 57,240,948 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          congenital myasthenic syndrome 57
            Congenital Myasthenic Syndrome, Fast-Channel 4
              congenital myasthenic syndrome 4B 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        peripheral nervous system disease 2125
          neuropathy 1948
            neuromuscular disease 1520
              neuromuscular junction disease 85
                congenital myasthenic syndrome 57
                  Congenital Myasthenic Syndrome, Fast-Channel 4
                    congenital myasthenic syndrome 4B 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.