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DO Term : tibial muscular dystrophy [DOID:0111078] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior compartment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31.
  • synonyms:
  • Finnish tibial muscular dystrophy,
  • MESH:D049310,
  • TMD,
  • Tardive tibial muscular dystrophy,
  • distal titinopathy,
  • ORDO:609,
  • SNOMEDCT_US_2023_03_01:698846009,
  • OMIM:600334,
  • Udd type distal myopathy,
  • UMLS_CUI:C1838244,
  • 600334,
  • Udd myopathy
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Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents