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DO Term : myofibrillar myopathy 1 [DOID:0080092] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35.
  • synonyms:
  • ORDO:363543,
  • DOID:0110286,
  • desminopathy,
  • 601419,
  • autosomal recessive limb-girdle muscular dystrophy type 2R,
  • OMIM:601419,
  • ICD10CM:G71.0
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Disease

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Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents





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