Term Name: autosomal dominant osteopetrosis 2
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 )

Relationships
is a type of: autosomal dominant disease osteopetrosis spinal disease
inverse disjoint_from: autosomal dominant osteopetrosis 1