autosomal dominant osteopetrosis 2

Term ID

DOID:0110938

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. (2)

References

• GARD:383
• MESH:D010022
• OMIM:166600
• ORDO:53
• SNOMEDCT_US_2023_03_01:725050005
• UMLS_CUI:C3179239

Ontology

Human Disease   ( DOID:0110938 )