Definition

An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13.

Synonyms

Albers-Schonberg osteopetrosis
autosomal dominant Albers-Schonberg disease

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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autosomal dominant osteopetrosis 2

autosomal dominant osteopetrosis 2

Associated Genes

Associated Alleles

Associated Models