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DO Term : myopathy with extrapyramidal signs [DOID:0111335] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1.
  • synonyms:
  • ORDO:401768,
  • 615673,
  • OMIM:615673,
  • proximal myopathy with extrapyramidal signs,
  • MPXPS,
  • GARD:12978
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents