OBO ID: DOID:0050558
Term Name: Ullrich congenital muscular dystrophy Search Ontology:
Synonyms:
  • ULLRICH DISEASE
  • Ullrich scleroatonic muscular dystrophy
Definition: A congenital muscular dystrophy that is characterized by muscle weakness and respiratory depression and has_material_basis_in mutation in the COL6A1, COL6A2 and COL6A3 that produce components of type VI collagen. https://en.wikipedia.org/wiki/Ullrich_congenital_muscular_dystrophy
References:
Ontology: Human Disease   (DOID:0050558)
OTHER Ullrich congenital muscular dystrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL6A1 Ullrich congenital muscular dystrophy 1 254090
COL6A2 Ullrich congenital muscular dystrophy 1 254090
COL6A3 Ullrich congenital muscular dystrophy 1 254090
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None