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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)
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Send questions and comments to User Support. 		last database update
03/18/2025
MGI 6.24 		The Jackson Laboratory