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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital myasthenic syndrome 1A
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Accession:DOID:0110663 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. (DO)
Synonyms:exact_synonym: CMS1A;   congenital myasthenic syndrome 1A, slow-channel;   congenital myasthenic syndrome type IIa;   congenital myasthenic syndrome, postsynaptic slow-channel
 broad_synonym: CHRNA1-related congenital myasthenic syndrome
 related_synonym: CMS IIa (formerly);   CMS2A (formerly);   congenital myasthenic syndrome type IIa (formerly)
 alt_id: OMIM:601462;   RDO:0001520
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congenital myasthenic syndrome 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cast calpastatin JBrowse link 2 1,452,111 1,561,669 RGD:5509810
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 3 60,445,657 60,460,724 RGD:7240710
RGD:8554872

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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 1A 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 1A 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.