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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital myasthenic syndrome 11
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Accession:DOID:0110675 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of AChR at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11. (DO)
Synonyms:exact_synonym: CMS IE;   CMS11;   CMS1E;   congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency;   congenital myasthenic syndrome 1E;   congenital myasthenic syndrome IE
 primary_id: MESH:C563831
 alt_id: DOID:9000376;   OMIM:616326;   RDO:0012990;   RDO:9004857
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congenital myasthenic syndrome 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rapsn receptor-associated protein of the synapse JBrowse link 3 79,859,815 79,869,486 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          congenital myasthenic syndrome 57
            congenital myasthenic syndrome 11 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        peripheral nervous system disease 2127
          neuropathy 1950
            neuromuscular disease 1522
              neuromuscular junction disease 85
                congenital myasthenic syndrome 57
                  Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency 4
                    congenital myasthenic syndrome 11 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.