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 19 ID (Ontology) DOID:0110673 (Human Disease)
Definition A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22.
Also Known As "CMS19"
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 Genes
 congenital myasthenic syndrome 19       1
 for disease ribbon | congenital myasthenic syndrome 19       1
 model of | congenital myasthenic syndrome 19       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_____
physical disorder                   |
 |__congenital myasthenic syndrome__|
neuromuscular junction disease      |
 |__congenital myasthenic syndrome__|
                                    congenital myasthenic syndrome 19  1 rec.
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Is a autosomal recessive disease
congenital myasthenic syndrome
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Synonyms
  • "CMS19" EXACT OMO:0003012
Secondary IDs
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MIM:616720