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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital myasthenic syndrome 21
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Accession:DOID:0110672 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11. (DO)
Synonyms:exact_synonym: CMS21;   congenital myasthenic syndrome 21, presynaptic
 primary_id: OMIM:617239
 alt_id: RDO:9001487
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congenital myasthenic syndrome 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chat choline O-acetyltransferase JBrowse link 16 8,576,858 8,686,131 RGD:8554872
G Slc18a3 solute carrier family 18 member A3 JBrowse link 16 8,682,668 8,685,529 RGD:8554872
RGD:7240710

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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 21 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 21 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.