FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term neuromuscular junction disease ID (Ontology) DOID:439 (Human Disease)
Definition A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction.
Comment
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DO.org
Annotations
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       2
Human Disease Models (FBhh)  DOID       1
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes Human Disease Models
 neuromuscular junction disease       2      2      1
 model of | neuromuscular junction disease       2       --       --
Spanning Tree (Parents/Children)
Only view relationship:
musculoskeletal system disease__
neuropathy______________________|
                                neuromuscular disease
                                 |__neuromuscular junction disease  37 rec.
                                     |__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.
                                     |__Lambert-Eaton myasthenic syndrome
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Synonyms
Secondary IDs
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MESH:D020511
SNOMEDCT_US_2023_03_01:128213006
UMLS_CUI:C0751950