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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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last database update
11/10/2020
MGI 6.16
The Jackson Laboratory