Disease-gene associations mined from literature

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,  OPTA2,  autosomal dominant Albers-Schonberg disease ...