Term Name: | autosomal dominant osteopetrosis 2 |
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Synonyms: | Albers-Schonberg osteopetrosis, autosomal dominant Albers-Schonberg disease, autosomal dominant osteopetrosis type II, OPTA2, osteopetrosis autosomal dominant type 2 |
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. |
Ontology: | Human Disease [DOID:0110938] ( DOID:0110938 ) |