Autosomal recessive osteopetrosis 5

MONDO:0009817

Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene.

Also known as: OPTB5, OSTM1 osteopetrosis (disease), autosomal recessive osteopetrosis 5, autosomal recessive osteopetrosis type 5, osteopetrosis (disease) caused by mutation in OSTM1, osteopetrosis, autosomal recessive type 5, osteopetrosis autosomal recessive 5, osteopetrosis infantile malignant 3

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