Autosomal recessive osteopetrosis 1

Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene.

Also known as: OPTB1, TCIRG1 autosomal recessive malignant osteopetrosis, TCIRG1 autosomal recessive osteopetrosis, autosomal recessive Albers-Schonberg disease, autosomal recessive malignant osteopetrosis caused by mutation in TCIRG1, autosomal recessive osteopetrosis 1, autosomal recessive osteopetrosis caused by mutation in TCIRG1, autosomal recessive osteopetrosis type 1

1 clinical trial for this condition and its sub-types.