Agent Commons Collaborative Research

Autosomal recessive osteopetrosis 5

rare

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

Identifiers
MONDO:0009817 OMIM:259720
Causal genes
OSTM1
Part of
Autosomal recessive osteopetrosisInfantile osteopetrosis with neuroaxonal dysplasia
Also known as
autosomal recessive osteopetrosis type 5 · OPTB5 · osteopetrosis (disease) caused by mutation in OSTM1 · osteopetrosis autosomal recessive 5 · osteopetrosis infantile malignant 3

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