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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital myasthenic syndrome 20
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Accession:DOID:0110661 term browser browse the term
Definition:An autosomal recessive neuromuscular disorder characterized by severe hypotonia associated with episodic apnea soon after birth. Patients have muscle weakness resulting in delayed walking, ptosis, poor sucking and swallowing, and generalized limb fatigability and weakness. (OMIM)
Synonyms:exact_synonym: CMS20;   congenital myasthenic syndrome 20 presynaptic
 primary_id: OMIM:617143
 alt_id: RDO:9001486
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congenital myasthenic syndrome 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc5a7 solute carrier family 5 member 7 JBrowse link 9 5,294,377 5,330,822 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 20 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 20 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.