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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital myasthenic syndrome 6
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Accession:DOID:0110671 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q. (DO)
Synonyms:exact_synonym: CMS Ia2;   CMS1A2;   CMS6;   CMSEA;   FIM;   FIMG2;   MYASTHENIA GRAVIS, FAMILIAL INFANTILE, 2;   Myasthenia familial infantile;   congenital myasthenic syndrome 6, presynaptic;   congenital myasthenic syndrome associated with episodic apnea;   congenital myasthenic syndrome type 1a;   congenital myasthenic syndrome type Ia;   congenital myasthenic syndrome type Ia2;   congenital myasthenic syndrome with episodic apnea;   congenital myasthenic syndrome, CHAT-related;   congenital myasthenic syndrome, due to CHAT;   congenital presynaptic myasthenic syndrome associated with episodic apnea
 primary_id: MESH:C535759
 alt_id: OMIA:002072;   OMIM:254210;   RDO:0001050
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congenital myasthenic syndrome 6 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:1600831
RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15619
    Pathological Conditions, Signs and Symptoms 8030
      Signs and Symptoms 4688
        Signs and Symptoms, Respiratory 212
          Apnea 64
            congenital myasthenic syndrome 6 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Immune & Inflammatory Diseases 3092
        immune system disease 2518
          Autoimmune Diseases 1478
            autoimmune hypersensitivity disease 1193
              autoimmune disease of the nervous system 404
                autoimmune disease of peripheral nervous system 55
                  myasthenia gravis 30
                    congenital myasthenic syndrome 6 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.