Human genes for autosomal dominant osteopetrosis 2
Autosomal dominant osteopetrosis 2 [DOID:0110938]
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: autosomal dominant osteopetrosis 2, DOID:0110938, Albers-Schonberg osteopetrosis, autosomal dominant Albers-Schonberg disease, autosomal dominant osteopetrosis type II ...