OBO ID: DOID:0110935
Term Name: nemaline myopathy 6 Search Ontology:
Synonyms:
  • nemaline myopathy 6, autosomal dominant
Definition: A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22. https://www.ncbi.nlm.nih.gov/pubmed/21109227
References:
Ontology: Human Disease   ( DOID:0110935 )
Relationships
is a type of:
OTHER nemaline myopathy 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KBTBD13 Nemaline myopathy 6, autosomal dominant 609273
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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