Term Name:	autosomal recessive osteopetrosis 1
Synonyms:	autosomal recessive Albers-Schonberg disease, infantile malignant osteopetrosis 1, OPTB1
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.
Ontology:	Human Disease [DOID:0110942]   ( DOID:0110942 )