Search Ontology:
Human Disease

nemaline myopathy 5A

Term ID
DOID:0110936
Synonyms
  • Amish nemaline myopathy
  • ANM
  • NEM5
  • nemaline myopathy 5, Amish type
Definition
A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset. https://www.ncbi.nlm.nih.gov/pubmed/10952871
References
Ontology
Human Disease   ( DOID:0110936 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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