FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital myasthenic syndrome ID (Ontology) DOID:3635 (Human Disease)
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).
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Records annotated with this term OR any of its CHILD TERMS
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 congenital myasthenic syndrome       1      1      1
 model of | congenital myasthenic syndrome       1       --       --
Spanning Tree (Parents/Children)
Only view relationship:
disease
neuromuscular disease
 |__neuromuscular junction disease__
 |__physical disorder_______________|
                                    congenital myasthenic syndrome  33 rec.
                                     |__congenital myasthenic syndrome 1A 7 rec.
                                     |__congenital myasthenic syndrome 1B 7 rec.
                                     |__congenital myasthenic syndrome 2A
                                     |__congenital myasthenic syndrome 2C
                                     |__congenital myasthenic syndrome 3A 1 rec.
                                     |__congenital myasthenic syndrome 3B 1 rec.
                                     |__congenital myasthenic syndrome 3C 1 rec.
                                     |__congenital myasthenic syndrome 4A
                                     |__congenital myasthenic syndrome 4B
                                     |__congenital myasthenic syndrome 4C
                                     |__congenital myasthenic syndrome 5
                                     |__congenital myasthenic syndrome 6 1 rec.
                                     |__congenital myasthenic syndrome 7 5 rec.
                                     |__congenital myasthenic syndrome 8 1 rec.
                                     |__congenital myasthenic syndrome 9 1 rec.
                                     |__congenital myasthenic syndrome 10
                                     |__congenital myasthenic syndrome 11 1 rec.
                                     |__congenital myasthenic syndrome 12 2 rec.
                                     |__congenital myasthenic syndrome 13 1 rec.
                                     |__congenital myasthenic syndrome 14 1 rec.
                                     |__congenital myasthenic syndrome 15 1 rec.
                                     |__congenital myasthenic syndrome 16 1 rec.
                                     |__congenital myasthenic syndrome 17 2 rec.
                                     |__congenital myasthenic syndrome 18 2 rec.
                                     |__congenital myasthenic syndrome 19 1 rec.
                                     |__congenital myasthenic syndrome 20 1 rec.
                                     |__congenital myasthenic syndrome 21 1 rec.
                                     |__congenital myasthenic syndrome 22 1 rec.
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Is a physical disorder
neuromuscular junction disease
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Synonyms
Secondary IDs
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GARD:11902
MESH:D020294
MIM:PS601462
NCI:C84647
ORDO:590
SNOMEDCT_US_2023_03_01:230672006
UMLS_CUI:C0751882