Autosomal recessive osteopetrosis 6

MONDO:0012679

Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene.

Also known as: OPTB6, PLEKHM1 osteopetrosis (disease), autosomal recessive intermediate osteopetrosis, autosomal recessive osteopetrosis type 6, osteopetrosis (disease) caused by mutation in PLEKHM1, osteopetrosis, autosomal recessive type 6, intermediate osteopetrosis, osteopetrosis autosomal recessive 6

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