About   Help   FAQ
Disease Ontology Browser
Bethlem myopathy 2 (DOID:0061201)
Alliance: disease page
Synonyms: myopathic-type Ehlers-Danlos syndrome
Alt IDs: OMIM:616471
Definition: A Bethlem myopathy characterized by congenital hypotonia, myopathy and delayed motor development with eventual ambulation that has_material_basis_in heterozygous mutation in the COL12A1 gene on chromosome 6q.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
09/30/2025
MGI 6.24 		The Jackson Laboratory