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.