Search Ontology:
Human Disease

congenital muscular dystrophy 1B

Term ID
DOID:0110634
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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