A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic). [ http://purl.obolibrary.org/obo/ECO_0007636 url:http://en.wikipedia.org/wiki/Congenital_myasthenic_syndrome url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=590 http://purl.obolibrary.org/obo/ECO_0007638 ]

This is just here as a test because I lose it

Term information

database cross reference
  • NCI:C84647
  • ORDO:590
  • MESH:D020294
  • OMIM:PS601462
  • SNOMEDCT_US_2022_03_01:230672006
  • UMLS_CUI:C0751882
  • GARD:11902
Subsets

DO_rare_slim, NCIthesaurus

comment
  • Xref MGI.
definition
  • A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).
has obo namespace
  • disease_ontology
id
  • DOID:3635