About   Help   FAQ
Disease Ontology Browser
autosomal recessive osteopetrosis 1 (DOID:0110942)
Alliance: disease page
Synonyms: autosomal recessive Albers-Schonberg disease; infantile malignant osteopetrosis 1; OPTB1
Alt IDs: OMIM:259700
Definition: An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2.

Disease References using Mouse Models (4)

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 6.24
The Jackson Laboratory