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Autosomal recessive osteopetrosis 6

rare

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

Identifiers
MONDO:0012679 OMIM:611497Orphanet:210110
Part of
Autosomal recessive osteopetrosis
Also known as
autosomal recessive intermediate osteopetrosis · autosomal recessive osteopetrosis type 6 · OPTB6 · osteopetrosis (disease) caused by mutation in PLEKHM1 · osteopetrosis autosomal recessive 6

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