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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital myasthenic syndrome 22
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Accession:DOID:0080587 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21. (DO)
Synonyms:exact_synonym: CMS22;   PREPL DEFICIENCY
 primary_id: OMIM:616224
 alt_id: DOID:9000377;   RDO:9001748
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congenital myasthenic syndrome 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prepl prolyl endopeptidase-like JBrowse link 6 8,316,861 8,346,293 RGD:8554872
RGD:7240710
G Slc3a1 solute carrier family 3 member 1 JBrowse link 6 8,284,937 8,318,649 RGD:8554872

Term paths to the root
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 22 2
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 22 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.