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 14 ID (Ontology) DOID:0110669 (Human Disease)
Definition A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22.
Also Known As "CMS14" ; "CMSTA3" ; "congenital myasthenic syndrome 14, with tubular aggregates" (for all, see Synonyms field below)
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 Genes
 congenital myasthenic syndrome 14       1
 for disease ribbon | congenital myasthenic syndrome 14       1
 model of | congenital myasthenic syndrome 14       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 14  1 rec.
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Is a autosomal recessive disease
congenital myasthenic syndrome
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Synonyms
  • "CMS14" EXACT OMO:0003012
    "CMSTA3" EXACT OMO:0003012
    "congenital myasthenic syndrome 14, with tubular aggregates" EXACT
    "congenital myasthenic syndrome with tubular aggregates 3" EXACT
Secondary IDs
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MIM:616228