autosomal dominant osteopetrosis 2 (DOID:0110938)
Alliance: disease page
Synonyms: Albers-Schonberg osteopetrosis; autosomal dominant Albers-Schonberg disease; autosomal dominant osteopetrosis type II; OPTA2; osteopetrosis autosomal dominant type 2
Alt IDs: OMIM:166600, MESH:D010022, ORDO:53, UMLS_CUI:C3179239
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.