Autosomal recessive osteopetrosis 1

MONDO:0009815

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

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