Search Ontology:
Human Disease

Bethlem myopathy 1C

Term ID
DOID:0061200
Synonyms
Definition
A Bethlem myopathy that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the COL6A3 gene on chromosome 2q37. https://pubmed.ncbi.nlm.nih.gov/24038877/
References
Ontology
Human Disease   ( DOID:0061200 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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