About   Help   FAQ
Disease Ontology Browser
autosomal recessive craniometaphyseal dysplasia (DOID:0080802)
Alliance: disease page
Alt IDs: OMIM:218400
Definition: A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22.

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
MGI 6.23
The Jackson Laboratory