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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

1 clinical trial for this condition and its sub-types, 1 tagged with Autosomal recessive osteopetrosis 1 itself.

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Where it sits in the disease tree

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