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DO Term : congenital myasthenic syndrome [DOID:3635] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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).
  • synonyms:
  • PS601462,
  • ORDO:590,
  • SNOMEDCT_US_2023_03_01:230672006,
  • OMIM:PS601462,
  • UMLS_CUI:C0751882,
  • NCI:C84647,
  • MESH:D020294,
  • GARD:11902
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents