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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital myasthenic syndrome 10
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Accession:DOID:0110668 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p. (DO)
Synonyms:exact_synonym: CMS Ib;   CMS10;   LGM;   congenital myasthenic syndrome type Ib
 related_synonym: CMS Ib (formerly);   CMS1B (formerly);   LGM (formerly);   congenital myasthenic syndrome type IB (formerly);   myasthenic myopathy (formerly)
 primary_id: MESH:C536089
 alt_id: OMIM:254300;   RDO:0001517
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congenital myasthenic syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dok7 docking protein 7 JBrowse link 14 80,925,409 80,963,454 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 10 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 10 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.