OBO ID: DOID:0111078
Term Name: tibial muscular dystrophy Search Ontology:
Synonyms:
  • distal titinopathy
  • Finnish tibial muscular dystrophy
  • Tardive tibial muscular dystrophy
  • TMD
  • Udd myopathy
  • Udd type distal myopathy
Definition: A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31. (3)
References:
Ontology: Human Disease   ( DOID:0111078 )
Relationships
is a type of:
OTHER tibial muscular dystrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TTN Tibial muscular dystrophy, tardive 600334
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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