FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term nemaline myopathy 5C ID (Ontology) DOID:0081375 (Human Disease)
Definition A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13.
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 Genes
 nemaline myopathy 5C       1
 for disease ribbon | nemaline myopathy 5C       1
 model of | nemaline myopathy 5C       1
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autosomal genetic disease
 |__autosomal dominant disease__
congenital myopathy             |
 |__nemaline myopathy___________|
                                nemaline myopathy 5C  1 rec.
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Is a autosomal dominant disease
nemaline myopathy
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MIM:620389