OBO ID: DOID:0110634
Term Name: congenital muscular dystrophy 1B Search Ontology:
Synonyms:
  • congenital muscular dystrophy type 1B
  • MDC1B
Definition: A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42. https://www.ncbi.nlm.nih.gov/pubmed/10677302
References:
Ontology: Human Disease   (DOID:0110634)
OTHER congenital muscular dystrophy 1B PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None