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DO Term : nemaline myopathy 5A [DOID:0110936] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:605355,
  • MESH:C538397,
  • Amish nemaline myopathy,
  • 605355,
  • GARD:8334,
  • ANM,
  • nemaline myopathy 5, Amish type,
  • NEM5,
  • ORDO:98902
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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