FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term nemaline myopathy 8 ID (Ontology) DOID:0110930 (Human Disease)
Definition A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22.
Also Known As "NEM8" ; "nemaline myopathy 8, autosomal recessive"
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 Genes
 nemaline myopathy 8       7
 for disease ribbon | nemaline myopathy 8       7
 model of | nemaline myopathy 8       7
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
congenital myopathy              |
 |__nemaline myopathy____________|
                                 nemaline myopathy 8  7 rec.
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Is a autosomal recessive disease
nemaline myopathy
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Synonyms
  • "NEM8" EXACT OMO:0003012
    "nemaline myopathy 8, autosomal recessive" EXACT
Secondary IDs
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MIM:615348