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Disease Ontology Browser
autosomal recessive osteopetrosis 6 (DOID:0110945)
Alliance: disease page
Synonyms: autosomal recessive osteopetrosis intermediate form; OPTB6
Alt IDs: OMIM:611497
Definition: An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31.

Disease References using Mouse Models (1)
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)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory