autosomal recessive osteopetrosis 5
Disease
autosomal recessive osteopetrosis 5
- Definition
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21.
- Synonyms
- infantile malignant osteopetrosis 3
- OPTB5
- Cross References
- Parent Terms
- Child Terms
- None
- Sources of Associations
Associated Genes
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