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DO Term : nemaline myopathy 1 [DOID:0110926] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21.
  • synonyms:
  • 609284,
  • MESH:C538348,
  • nemaline myopathy 1, autosomal dominant or recessive,
  • NEM1,
  • OMIM:609284,
  • congenital myopathy 4B
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents