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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital myasthenic syndrome 15
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Accession:DOID:0110658 term browser browse the term
Definition:One of a heterogeneous group of disorders that arise from impaired signal transmission at the neuromuscular synapse and are characterized by fatigable muscle weakness. (OIM)
Synonyms:exact_synonym: CMS15;   CMSWTA;   congenital myasthenic syndrome 15 without tubular aggregates;   congenital myasthenic syndrome without tubular aggregates
 primary_id: OMIM:616227
 alt_id: RDO:9001469
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congenital myasthenic syndrome 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg14 ALG14, UDP-N-acetylglucosaminyltransferase subunit JBrowse link 2 224,851,352 224,931,461 RGD:8554872
RGD:7240710

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 15 1
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 15 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.